A1BG P04217 VAR_018369 p.His52Arg Polymorphism rs893184 - A1BG P04217 VAR_018370 p.His395Arg Polymorphism rs2241788 - A1CF Q9NQ94 VAR_052201 p.Val555Met Polymorphism rs9073 - A1CF Q9NQ94 VAR_059821 p.Ala558Ser Polymorphism rs11817448 - A2ML1 A8K2U0 VAR_055463 p.Gly207Arg Polymorphism rs11047499 - A2ML1 A8K2U0 VAR_055464 p.Cys970Tyr Polymorphism rs1558526 - A2ML1 A8K2U0 VAR_055465 p.Thr1131Met Polymorphism rs7959680 - A2ML1 A8K2U0 VAR_055466 p.Thr1412Ala Polymorphism rs7315591 - A2ML1 A8K2U0 VAR_059083 p.Asp850Glu Polymorphism rs1860926 - A2ML1 A8K2U0 VAR_059084 p.His1229Arg Polymorphism rs10219561 - A2M P01023 VAR_000012 p.Arg704His Polymorphism rs1800434 - A2M P01023 VAR_000013 p.Cys972Tyr Polymorphism rs1800433 - A2M P01023 VAR_000014 p.Ile1000Val Polymorphism rs669 - A2M P01023 VAR_026820 p.Asn639Asp Polymorphism rs226405 - A2M P01023 VAR_026821 p.Leu815Gln Polymorphism rs3180392 - A4GALT Q9NPC4 VAR_014296 p.Met37Val Polymorphism rs11541159 - A4GALT Q9NPC4 VAR_014297 p.Met183Lys Unclassified - - A4GALT Q9NPC4 VAR_017508 p.Gly187Asp Polymorphism rs28940572 - A4GALT Q9NPC4 VAR_017509 p.Pro251Leu Polymorphism rs28940571 - A4GALT Q9NPC4 VAR_022320 p.Gln163Arg Polymorphism rs28915383 - A4GNT Q9UNA3 VAR_022096 p.Ala218Asp Polymorphism rs2246945 - n.a. A6NG73 VAR_046092 p.Ile16Val Polymorphism rs2402730 - n.a. A6NGZ7 VAR_042887 p.Gly192Arg Polymorphism rs4276583 - n.a. A6NLB4 VAR_042947 p.Trp263Arg Polymorphism rs11248317 - n.a. A8MXQ7 VAR_044540 p.Thr509Arg Polymorphism rs4875053 - AAAS Q9NRG9 VAR_012804 p.Gln15Lys Disease - Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] AAAS Q9NRG9 VAR_012805 p.His160Arg Disease - Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] AAAS Q9NRG9 VAR_012806 p.Ser263Pro Disease - Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] AAAS Q9NRG9 VAR_037060 p.Lys108Met Polymorphism rs13330 - AACS Q86V21 VAR_038303 p.Ile118Val Polymorphism rs12831803 - AACS Q86V21 VAR_060997 p.Ala470Val Polymorphism rs59883951 - AADACL2 Q6P093 VAR_038140 p.Ala186Ser Polymorphism rs1972977 - AADACL2 Q6P093 VAR_038141 p.Leu343Ile Polymorphism rs1052562 - AADACL3 Q5VUY0 VAR_060665 p.Cys195Phe Polymorphism rs7513079 - AADACL3 Q5VUY0 VAR_060666 p.Ser47Pro Polymorphism rs3010877 - AADACL3 Q5VUY0 VAR_060667 p.Leu71Met Polymorphism rs3000859 - AADACL3 Q5VUY0 VAR_060668 p.Arg129Trp Polymorphism rs17038445 - AADACL3 Q5VUY0 VAR_060670 p.Met250Ile Polymorphism rs3000931 - AADACL3 Q5VUY0 VAR_060671 p.Pro280Leu Polymorphism rs11121969 - AADAC P22760 VAR_014798 p.Val281Ile Polymorphism rs1803155 - AADAT Q8N5Z0 VAR_061005 p.Val243Ile Polymorphism rs56350236 - AAED1 Q7RTV5 VAR_052598 p.Arg83Lys Polymorphism rs9886834 - AAGAB Q6PD74 VAR_021533 p.Ile132Leu Polymorphism rs7173826 - AAK1 Q2M2I8 VAR_031129 p.Lys509Gln Polymorphism rs6715776 - AAK1 Q2M2I8 VAR_040348 p.Ile59Val Polymorphism rs34535244 - AAK1 Q2M2I8 VAR_040349 p.Gln533His Polymorphism - - AAK1 Q2M2I8 VAR_040350 p.Val603Ala Polymorphism rs56038532 - AAK1 Q2M2I8 VAR_040351 p.Thr694Met Polymorphism rs55889248 - AAK1 Q2M2I8 VAR_040352 p.Pro725Thr Polymorphism rs35285785 - AAK1 Q2M2I8 VAR_040353 p.Pro771Arg Polymorphism rs34422616 - AAK1 Q2M2I8 VAR_040354 p.Gly835Asp Polymorphism - - AAMDC Q9H7C9 VAR_052696 p.Val92Met Polymorphism rs2186564 - AAMP Q13685 VAR_037061 p.Ile250Val Polymorphism rs2305835 - AANAT Q16613 VAR_048168 p.Arg15Cys Polymorphism rs34470791 - AANAT Q16613 VAR_055086 p.Ala129Thr Disease rs28936679 Delayed sleep phase syndrome (DSPS) [MIM:614163] AAR2 Q9Y312 VAR_048127 p.Pro124Thr Polymorphism rs6121183 - AARD Q4LEZ3 VAR_043570 p.Gly96Arg Polymorphism rs16889283 - AARS2 Q5JTZ9 VAR_027609 p.Ile339Val Polymorphism rs324136 - AARS2 Q5JTZ9 VAR_027610 p.Ala484Asp Polymorphism rs495294 - AARS2 Q5JTZ9 VAR_057357 p.Met850Val Polymorphism rs35783144 - AARS P49588 VAR_028204 p.Gly275Asp Polymorphism rs11537667 - AARS P49588 VAR_063527 p.Arg329His Disease - Charcot-Marie-Tooth disease type 2N (CMT2N) [MIM:613287] AASDH Q4L235 VAR_038309 p.Lys368Arg Polymorphism rs3796543 - AASDH Q4L235 VAR_038310 p.Ala747Val Polymorphism rs3796544 - AASDH Q4L235 VAR_038311 p.Val774Ile Polymorphism rs3796545 - AASDH Q4L235 VAR_038312 p.Thr865Ala Polymorphism rs12498340 - AASDH Q4L235 VAR_038313 p.Tyr1030Asp Polymorphism rs8340 - AASDH Q4L235 VAR_061008 p.Ile61Val Polymorphism rs34543011 - AASDH Q4L235 VAR_061009 p.Pro93Arg Polymorphism rs34228795 - AATK Q6ZMQ8 VAR_027267 p.Thr118Met Polymorphism rs8082016 - AATK Q6ZMQ8 VAR_032679 p.Ser81Phe Unclassified - An ovarian mucinous carcinoma sample AATK Q6ZMQ8 VAR_032680 p.Leu97Val Unclassified - A lung adenocarcinoma sample AATK Q6ZMQ8 VAR_032681 p.Met104Val Unclassified - An ovarian mucinous carcinoma sample AATK Q6ZMQ8 VAR_032682 p.Gly703Cys Polymorphism rs7503604 - AATK Q6ZMQ8 VAR_032683 p.Ser815Arg Polymorphism rs56032966 - AATK Q6ZMQ8 VAR_032684 p.Ser923Leu Polymorphism rs56313973 - AATK Q6ZMQ8 VAR_032685 p.Glu1160Lys Polymorphism rs55793641 - AATK Q6ZMQ8 VAR_032686 p.Pro1192Ser Polymorphism rs55856613 - AATK Q6ZMQ8 VAR_032687 p.Phe1266Ser Polymorphism rs36000545 - AATK Q6ZMQ8 VAR_032688 p.Ala1332Thr Polymorphism rs55713566 - ABAT P80404 VAR_008883 p.Arg220Lys Disease - GABA transaminase deficiency (GABATD) [MIM:613163] ABAT P80404 VAR_018979 p.Gln56Arg Polymorphism rs1731017 - ABCA10 Q8WWZ4 VAR_028384 p.Pro203Ser Polymorphism rs9909216 - ABCA10 Q8WWZ4 VAR_028385 p.Ile287Val Polymorphism rs11657804 - ABCA10 Q8WWZ4 VAR_028386 p.Met916Thr Polymorphism rs4968849 - ABCA10 Q8WWZ4 VAR_055469 p.Arg1322Trp Polymorphism rs10491178 - ABCA12 Q86UK0 VAR_019597 p.Ser459Thr Polymorphism rs7560008 - ABCA12 Q86UK0 VAR_019598 p.Asn1380Ser Disease rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277] ABCA12 Q86UK0 VAR_019599 p.Gly1381Glu Disease rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277] ABCA12 Q86UK0 VAR_019600 p.Arg1514His Disease rs28940270 Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100] ABCA12 Q86UK0 VAR_019600 p.Arg1514His Disease rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277] ABCA12 Q86UK0 VAR_019601 p.Glu1539Lys Disease rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277] ABCA12 Q86UK0 VAR_019602 p.Gly1651Ser Disease rs28940568 Ichthyosis lamellar type 2 (LI2) [MIM:601277] ABCA12 Q86UK0 VAR_027444 p.Glu550Gly Polymorphism rs16853149 - ABCA12 Q86UK0 VAR_027445 p.Ser777Thr Polymorphism rs7560008 - ABCA12 Q86UK0 VAR_027446 p.Gly1251Asp Polymorphism rs13414448 - ABCA12 Q86UK0 VAR_027447 p.Arg1546Cys Polymorphism rs13401480 - ABCA12 Q86UK0 VAR_027448 p.Glu2064Lys Polymorphism rs1213011 - ABCA12 Q86UK0 VAR_027449 p.Asp2365Asn Disease rs726070 Ichthyosis harlequin (HI) [MIM:242500] ABCA12 Q86UK0 VAR_055473 p.Trp199Cys Polymorphism rs16853238 - ABCA12 Q86UK0 VAR_055474 p.Asn237His Polymorphism rs11890512 - ABCA12 Q86UK0 VAR_055475 p.Gln274Arg Polymorphism rs11890468 - ABCA12 Q86UK0 VAR_055476 p.Arg287Gly Polymorphism rs11891778 - ABCA12 Q86UK0 VAR_062663 p.Ala476Val Unclassified - A pancreatic ductal adenocarcinoma sample ABCA13 Q86UQ4 VAR_055470 p.Thr1508Ile Polymorphism rs6583483 - ABCA13 Q86UQ4 VAR_059087 p.Pro506Leu Polymorphism rs1880738 - ABCA13 Q86UQ4 VAR_059088 p.Arg555His Polymorphism rs2361519 - ABCA13 Q86UQ4 VAR_059089 p.Ile767Ser Polymorphism rs17712293 - ABCA13 Q86UQ4 VAR_059090 p.Glu799Lys Polymorphism rs17547816 - ABCA13 Q86UQ4 VAR_059091 p.Ile1434Val Polymorphism rs17132195 - ABCA13 Q86UQ4 VAR_059092 p.Phe1540Leu Polymorphism rs17712299 - ABCA13 Q86UQ4 VAR_059093 p.Ile1889Lys Polymorphism rs17132197 - ABCA13 Q86UQ4 VAR_059094 p.Asn2033Asp Polymorphism rs17661364 - ABCA13 Q86UQ4 VAR_059095 p.Ser2154Leu Polymorphism rs17092911 - ABCA13 Q86UQ4 VAR_059096 p.Ala2178Glu Polymorphism rs1880736 - ABCA13 Q86UQ4 VAR_059097 p.Leu2212Ser Polymorphism rs17132198 - ABCA13 Q86UQ4 VAR_059098 p.Lys2436Arg Polymorphism rs17132206 - ABCA13 Q86UQ4 VAR_059099 p.Ser2537Ala Polymorphism rs17132208 - ABCA13 Q86UQ4 VAR_059100 p.Arg2674Trp Polymorphism rs2222648 - ABCA13 Q86UQ4 VAR_059101 p.Ala3142Val Polymorphism rs3931814 - ABCA13 Q86UQ4 VAR_059102 p.Tyr3851Phe Polymorphism rs17132289 - ABCA13 Q86UQ4 VAR_059103 p.Asn4277Asp Polymorphism rs4917152 - ABCA13 Q86UQ4 VAR_059104 p.Gln4302Arg Polymorphism rs4917153 - ABCA13 Q86UQ4 VAR_059105 p.Pro4335Ala Polymorphism rs17132370 - ABCA1 O95477 VAR_009145 p.Val399Ala Polymorphism rs9282543 - ABCA1 O95477 VAR_009146 p.Arg587Trp Disease rs2853574 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009147 p.Trp590Ser Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009148 p.Gln597Arg Disease rs2853578 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009150 p.Asn935Ser Disease rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009151 p.Ala937Val Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009152 p.Asp1289Asn Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009153 p.Cys1477Arg Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009154 p.Ile1517Arg Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009155 p.Asn1800His Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_012618 p.Arg219Lys Polymorphism rs2230806 - ABCA1 O95477 VAR_012619 p.Arg230Cys Disease rs9282541 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] ABCA1 O95477 VAR_012620 p.Ala255Thr Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_012621 p.Val771Met Polymorphism rs2066718 - ABCA1 O95477 VAR_012622 p.Thr774Pro Polymorphism rs35819696 - ABCA1 O95477 VAR_012623 p.Lys776Asn Unclassified - - ABCA1 O95477 VAR_012624 p.Val825Ile Polymorphism rs2066715 - ABCA1 O95477 VAR_012625 p.Ile883Met Polymorphism rs2066714 - ABCA1 O95477 VAR_012626 p.Thr929Ile Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_012627 p.Ala1046Asp Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_012628 p.Met1091Thr Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] ABCA1 O95477 VAR_012629 p.Glu1172Asp Polymorphism rs33918808 - ABCA1 O95477 VAR_012630 p.Ser1506Leu Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_012631 p.Lys1587Arg Polymorphism rs2230808 - ABCA1 O95477 VAR_012632 p.Asn1611Asp Unclassified - - ABCA1 O95477 VAR_012633 p.Ser1731Cys Polymorphism - - ABCA1 O95477 VAR_012635 p.Arg2081Trp Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_012636 p.Pro2150Leu Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] ABCA1 O95477 VAR_012637 p.Leu2168Pro Polymorphism rs2853577 - ABCA1 O95477 VAR_012638 p.Ile1555Thr Polymorphism rs1997618 - ABCA1 O95477 VAR_012639 p.Leu1648Pro Polymorphism rs1883024 - ABCA1 O95477 VAR_017016 p.Ser1181Phe Unclassified - - ABCA1 O95477 VAR_017529 p.Pro85Leu Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] ABCA1 O95477 VAR_017530 p.Asp1099Tyr Disease rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] ABCA1 O95477 VAR_035724 p.Glu210Asp Unclassified - A colorectal cancer sample ABCA1 O95477 VAR_035725 p.Asp917Tyr Unclassified - A colorectal cancer sample ABCA1 O95477 VAR_035726 p.Ala1407Thr Unclassified - A colorectal cancer sample ABCA1 O95477 VAR_035727 p.Ala2109Thr Unclassified - A colorectal cancer sample ABCA1 O95477 VAR_037968 p.Asn935His Disease rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_037969 p.Val1054Ile Polymorphism rs13306072 - ABCA1 O95477 VAR_037970 p.Arg1680Trp Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_037971 p.Phe2009Ser Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] ABCA1 O95477 VAR_062481 p.Pro248Ala Polymorphism - - ABCA1 O95477 VAR_062482 p.Glu284Lys Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062483 p.Ser364Cys Polymorphism - - ABCA1 O95477 VAR_062484 p.Lys401Gln Polymorphism - - ABCA1 O95477 VAR_062485 p.Tyr482Cys Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062486 p.Arg496Trp Unclassified - - ABCA1 O95477 VAR_062487 p.Trp590Leu Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062488 p.Arg638Gln Unclassified - - ABCA1 O95477 VAR_062489 p.Thr774Ser Polymorphism - - ABCA1 O95477 VAR_062490 p.Glu815Gly Unclassified - - ABCA1 O95477 VAR_062491 p.Trp840Arg Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062492 p.Pro1065Ser Polymorphism - - ABCA1 O95477 VAR_062493 p.Arg1068Cys Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062494 p.Gly1216Val Polymorphism - - ABCA1 O95477 VAR_062495 p.Arg1341Thr Unclassified - - ABCA1 O95477 VAR_062496 p.Ser1376Gly Polymorphism - - ABCA1 O95477 VAR_062497 p.Leu1379Phe Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062498 p.Arg1615Gln Unclassified - - ABCA1 O95477 VAR_062499 p.Ala1670Thr Unclassified - - ABCA1 O95477 VAR_062500 p.Arg1680Gln Unclassified - - ABCA1 O95477 VAR_062501 p.Val1704Asp Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062502 p.Arg1851Gln Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062503 p.Arg1897Trp Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] ABCA1 O95477 VAR_062504 p.Arg1901Ser Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062505 p.Arg1925Gln Unclassified - - ABCA1 O95477 VAR_062506 p.Phe2163Ser Unclassified - - ABCA1 O95477 VAR_062507 p.Gln2196His Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062508 p.Asp2243Glu Polymorphism - - ABCA1 O95477 VAR_062509 p.Val2244Ile Unclassified - - ABCA2 Q9BZC7 VAR_044526 p.His583Pro Polymorphism rs908828 - ABCA2 Q9BZC7 VAR_044527 p.Phe674Val Polymorphism rs2090625 - ABCA3 Q99758 VAR_023497 p.Leu101Pro Disease rs28936412 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_023498 p.Asn568Asp Disease - Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_023499 p.Leu1553Pro Disease - Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_023500 p.Gln1591Pro Disease rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_025061 p.Asn140His Polymorphism rs45447801 - ABCA3 Q99758 VAR_025062 p.Pro766Ser Polymorphism rs45592239 - ABCA3 Q99758 VAR_035728 p.Leu290Met Unclassified - A breast cancer sample ABCA3 Q99758 VAR_035729 p.Glu801Asp Unclassified - A breast cancer sample ABCA3 Q99758 VAR_035730 p.His1069Gln Unclassified - A breast cancer sample ABCA4 P78363 VAR_008398 p.Arg18Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008399 p.Arg24His Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008400 p.Cys54Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008401 p.Gly65Glu Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008401 p.Gly65Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008402 p.Cys75Gly Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008403 p.Asn96Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008404 p.Asn96His Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008405 p.Ala192Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008406 p.Arg212Cys Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008406 p.Arg212Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008407 p.Asp249Gly Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008408 p.Thr300Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008409 p.Ser336Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008410 p.Tyr340Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008411 p.Ala407Val Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008411 p.Ala407Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008412 p.Ser445Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008413 p.Glu471Lys Disease rs1800548 Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008413 p.Glu471Lys Disease rs1800548 Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008414 p.Asp523Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008415 p.Leu541Pro Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008415 p.Leu541Pro Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008415 p.Leu541Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008416 p.Arg572Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008417 p.Arg572Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008418 p.Arg602Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008419 p.Phe608Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008420 p.Val643Gly Polymorphism - - ABCA4 P78363 VAR_008421 p.Asp645Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008422 p.Gly818Glu Disease - Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008422 p.Gly818Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008423 p.Trp821Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008424 p.Gly851Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008425 p.Gly863Ala Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008425 p.Gly863Ala Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008425 p.Gly863Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008426 p.Thr901Ala Polymorphism - - ABCA4 P78363 VAR_008427 p.Val931Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008428 p.Arg943Gln Polymorphism rs1801581 - ABCA4 P78363 VAR_008429 p.Gln957Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008430 p.Asn965Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008431 p.Gly978Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008432 p.Glu1036Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008433 p.Ala1038Val Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008433 p.Ala1038Val Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008433 p.Ala1038Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008434 p.Ser1071Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008435 p.Val1072Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008436 p.Glu1087Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008437 p.Thr1112Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008438 p.Glu1122Lys Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008438 p.Glu1122Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008439 p.Arg1129Leu Disease rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008439 p.Arg1129Leu Disease rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008440 p.Leu1201Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008441 p.Asp1204Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008442 p.Pro1314Thr Polymorphism - - ABCA4 P78363 VAR_008443 p.Pro1380Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008444 p.His1406Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008445 p.Trp1408Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008446 p.Trp1408Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008447 p.Thr1428Met Disease rs1800549 Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008448 p.Val1429Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008449 p.Val1433Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008450 p.Gly1439Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008451 p.Phe1440Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008452 p.Pro1486Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008453 p.Cys1488Arg Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008453 p.Cys1488Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008454 p.Cys1490Tyr Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008454 p.Cys1490Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008455 p.Arg1517Ser Disease rs1800550 Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008456 p.Thr1526Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008457 p.Asp1532Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008459 p.Gly1578Arg Disease rs1800551 Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008460 p.Leu1631Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008461 p.Arg1640Trp Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008461 p.Arg1640Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008462 p.Tyr1652Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008463 p.Ser1696Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008464 p.Gln1703Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008465 p.Leu1729Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008466 p.Ala1794Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008467 p.Arg1820Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008468 p.His1838Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008469 p.Arg1843Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008470 p.Asn1868Ile Polymorphism rs1801466 - ABCA4 P78363 VAR_008471 p.Gly1886Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008473 p.Arg1898His Disease rs1800552 Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008473 p.Arg1898His Disease rs1800552 Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008474 p.Pro1948Leu Polymorphism - - ABCA4 P78363 VAR_008475 p.Gly1961Glu Disease rs1800553 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008475 p.Gly1961Glu Disease rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008476 p.Leu1970Phe Disease rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008476 p.Leu1970Phe Disease rs1800554 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008477 p.Gly1977Ser Disease - Age-related macular degeneration type 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008477 p.Gly1977Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008478 p.Leu2027Phe Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008478 p.Leu2027Phe Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008480 p.Arg2030Gln Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008480 p.Arg2030Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008481 p.Val2050Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008482 p.Arg2077Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008483 p.Glu2096Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008484 p.Arg2106Cys Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008484 p.Arg2106Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008485 p.Arg2107His Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008486 p.His2128Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008487 p.Glu2131Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008488 p.Arg2139Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008489 p.Cys2150Tyr Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008489 p.Cys2150Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008490 p.Lys2160Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008491 p.Asp2177Asn Polymorphism rs1800555 - ABCA4 P78363 VAR_008492 p.Ala60Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008493 p.Asp846His Polymorphism - - ABCA4 P78363 VAR_008494 p.Ile1846Thr Polymorphism - - ABCA4 P78363 VAR_008495 p.Arg2038Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_009157 p.Ser2255Ile Polymorphism rs6666652 - ABCA4 P78363 VAR_012493 p.Leu11Pro Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012495 p.Asn58Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012496 p.Ala60Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012497 p.Ala60Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012498 p.Pro68Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012499 p.Pro68Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012500 p.Gly72Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012501 p.Val77Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012502 p.Ser100Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012503 p.Arg152Gln Polymorphism - - ABCA4 P78363 VAR_012504 p.Ile156Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012505 p.Gln190His Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012506 p.Ser206Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012507 p.Arg212His Polymorphism rs6657239 - ABCA4 P78363 VAR_012508 p.Arg220Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012509 p.Cys230Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012510 p.Leu244Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012511 p.Asn247Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012512 p.Pro309Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012513 p.Glu328Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012514 p.Arg333Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012515 p.Trp339Gly Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012516 p.Asn380Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012517 p.His423Arg Polymorphism rs3112831 - ABCA4 P78363 VAR_012518 p.Phe525Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012519 p.Arg537Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012520 p.Ala549Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012521 p.Gly550Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012522 p.Val552Ile Polymorphism - - ABCA4 P78363 VAR_012523 p.Arg602Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012524 p.Gly607Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012525 p.Gly607Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012526 p.Gln635Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012527 p.Gln636His Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012528 p.Val643Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012529 p.Arg653Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012530 p.Leu686Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012531 p.Thr716Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012532 p.Cys764Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012533 p.Ser765Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012534 p.Ser765Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012535 p.Val767Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012536 p.Leu797Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012537 p.Ile824Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012538 p.Val849Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012539 p.Ala854Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012541 p.Phe873Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012542 p.Thr897Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012543 p.His914Arg Polymorphism - - ABCA4 P78363 VAR_012544 p.Val935Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012545 p.Arg943Trp Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012545 p.Arg943Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012546 p.Thr959Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012547 p.Thr971Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012548 p.Thr972Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012549 p.Ser974Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012550 p.Val989Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012551 p.Gly991Arg Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012552 p.Leu1014Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012553 p.Thr1019Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012554 p.Thr1019Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012555 p.Glu1022Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012556 p.Lys1031Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012557 p.Arg1055Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012558 p.Ser1063Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012559 p.Glu1087Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012560 p.Gly1091Glu Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012561 p.Arg1097Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012562 p.Arg1108Cys Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012562 p.Arg1108Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012563 p.Arg1108His Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012564 p.Arg1108Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012565 p.Arg1129Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012566 p.Lys1148Thr Polymorphism - - ABCA4 P78363 VAR_012567 p.Leu1250Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012568 p.Thr1253Met Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012569 p.Arg1300Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012570 p.Leu1388Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012571 p.Glu1399Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012572 p.Leu1430Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012573 p.Phe1440Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012574 p.Arg1443His Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012575 p.Cys1488Phe Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012576 p.Cys1488Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012577 p.Gly1508Cys Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012578 p.Gln1513Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012579 p.Leu1525Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012580 p.Thr1537Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012581 p.Ala1598Asp Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012582 p.Ala1637Thr Polymorphism - - ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012585 p.Ser1689Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012586 p.Val1693Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012587 p.Arg1705Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012588 p.Met1733Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012589 p.Ser1736Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012590 p.Gly1748Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012592 p.Leu1763Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012593 p.Pro1776Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012594 p.Pro1780Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012595 p.Asn1799Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012596 p.Asn1805Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012597 p.Glu1817Asp Polymorphism - - ABCA4 P78363 VAR_012598 p.Val1884Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012599 p.Glu1885Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012600 p.Val1896Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012601 p.Val1921Met Polymorphism - - ABCA4 P78363 VAR_012602 p.Leu1940Pro Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012602 p.Leu1940Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012603 p.Leu1971Arg Disease - Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012604 p.Gly1975Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012605 p.Leu2035Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012606 p.Gly2059Ala Polymorphism - - ABCA4 P78363 VAR_012607 p.Leu2060Arg Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012608 p.Tyr2071Phe Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012609 p.Arg2077Gly Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012610 p.Arg2107Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012611 p.Gly2146Asp Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012612 p.Arg2149Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012613 p.Cys2150Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012614 p.Ala2216Val Polymorphism - - ABCA4 P78363 VAR_012615 p.Leu2229Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012616 p.Leu2241Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012617 p.Arg2263Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_014703 p.Ser752Ile Polymorphism rs1801369 - ABCA4 P78363 VAR_035736 p.Thr224Met Unclassified - A breast cancer sample ABCA5 Q8WWZ7 VAR_027571 p.Gln93Lys Polymorphism rs12383 - ABCA5 Q8WWZ7 VAR_027572 p.Gln484Arg Polymorphism rs17686569 - ABCA5 Q8WWZ7 VAR_027573 p.Met753Val Polymorphism rs9898003 - ABCA5 Q8WWZ7 VAR_027574 p.Ala832Ser Polymorphism rs536009 - ABCA5 Q8WWZ7 VAR_027575 p.Met960Val Polymorphism rs557491 - ABCA5 Q8WWZ7 VAR_048128 p.Ala178Thr Polymorphism rs11544715 - ABCA5 Q8WWZ7 VAR_048129 p.Asp1260Gly Polymorphism rs11544716 - ABCA6 Q8N139 VAR_027576 p.Val282Ile Polymorphism rs4968839 - ABCA6 Q8N139 VAR_027577 p.Asn610Tyr Polymorphism rs9282554 - ABCA6 Q8N139 VAR_027578 p.Met698Ile Polymorphism rs9282553 - ABCA6 Q8N139 VAR_027579 p.Met875Ile Polymorphism rs7212506 - ABCA6 Q8N139 VAR_027580 p.Asn1322Ser Polymorphism rs2302134 - ABCA7 Q8IZY2 VAR_027581 p.Glu188Gly Polymorphism rs3764645 - ABCA7 Q8IZY2 VAR_027582 p.Thr319Ala Polymorphism rs3752232 - ABCA7 Q8IZY2 VAR_027583 p.His395Arg Polymorphism rs3764647 - ABCA7 Q8IZY2 VAR_027584 p.Arg463His Polymorphism rs3752233 - ABCA7 Q8IZY2 VAR_027585 p.Asn718Thr Polymorphism rs3752239 - ABCA7 Q8IZY2 VAR_027586 p.Arg1349Gln Polymorphism rs3745842 - ABCA7 Q8IZY2 VAR_027587 p.Gly1527Ala Polymorphism rs3752246 - ABCA7 Q8IZY2 VAR_027588 p.Gln1686Arg Polymorphism rs4147918 - ABCA7 Q8IZY2 VAR_027589 p.Ala2045Ser Polymorphism rs4147934 - ABCA7 Q8IZY2 VAR_060985 p.Ala676Thr Polymorphism rs59851484 - ABCA8 O94911 VAR_027590 p.Thr256Ala Polymorphism rs16973446 - ABCA8 O94911 VAR_027591 p.Gly331Ser Polymorphism rs4147979 - ABCA8 O94911 VAR_027592 p.Tyr489Phe Polymorphism rs12150510 - ABCA8 O94911 VAR_027593 p.Cys680Gly Polymorphism rs16973424 - ABCA8 O94911 VAR_048130 p.Ala416Val Polymorphism rs35621847 - ABCA8 O94911 VAR_048131 p.Leu619Arg Polymorphism rs35844316 - ABCA8 O94911 VAR_048132 p.Gly1430Ser Polymorphism rs35403175 - ABCA9 Q8IUA7 VAR_027594 p.Arg353His Polymorphism rs1860447 - ABCA9 Q8IUA7 VAR_027595 p.Asn785Ser Polymorphism rs17684521 - ABCA9 Q8IUA7 VAR_027596 p.Lys1306Thr Polymorphism rs2302294 - ABCA9 Q8IUA7 VAR_027597 p.Gly1356Ser Polymorphism rs9916254 - ABCB10 Q9NRK6 VAR_013702 p.Ala150Ser Polymorphism rs4148756 - ABCB10 Q9NRK6 VAR_031435 p.Asp545Asn Polymorphism rs35698797 - ABCB10 Q9NRK6 VAR_035735 p.Arg471Thr Unclassified - A breast cancer sample ABCB10 Q9NRK6 VAR_048133 p.Arg242Gly Polymorphism rs17584642 - ABCB11 O95342 VAR_010271 p.Glu297Gly Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_010271 p.Glu297Gly Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013332 p.Val284Leu Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013333 p.Val444Ala Polymorphism rs2287622 - ABCB11 O95342 VAR_013334 p.Lys461Glu Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013335 p.Asp482Gly Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013336 p.Gly982Arg Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013337 p.Gly1004Asp Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013338 p.Arg1153Cys Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013339 p.Arg1268Gln Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_030386 p.Glu186Gly Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030387 p.Ile206Val Polymorphism rs11568357 - ABCB11 O95342 VAR_030388 p.Gly238Val Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_030389 p.Arg299Lys Polymorphism rs2287617 - ABCB11 O95342 VAR_030390 p.Cys336Ser Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_030391 p.Arg432Thr Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030392 p.Ala570Thr Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030393 p.Met677Val Polymorphism rs11568364 - ABCB11 O95342 VAR_030394 p.Thr923Pro Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030395 p.Ala926Pro Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030396 p.Arg1050Cys Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030397 p.Arg1128His Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030398 p.Glu1186Lys Polymorphism rs1521808 - ABCB11 O95342 VAR_035349 p.Val284Ala Polymorphism - - ABCB11 O95342 VAR_035350 p.Arg616Gly Polymorphism - - ABCB11 O95342 VAR_035351 p.Thr619Ala Polymorphism - - ABCB11 O95342 VAR_035352 p.Arg698His Polymorphism - - ABCB11 O95342 VAR_035353 p.Ala865Val Polymorphism - - ABCB11 O95342 VAR_035354 p.Arg958Gln Polymorphism - - ABCB11 O95342 VAR_043074 p.Arg415Gln Polymorphism - - ABCB11 O95342 VAR_043075 p.Asn591Ser Unclassified - - ABCB11 O95342 VAR_043076 p.Asp676Tyr Unclassified - - ABCB11 O95342 VAR_043077 p.Gly855Arg Unclassified - - ABCB11 O95342 VAR_055472 p.Ser56Leu Polymorphism rs11568361 - ABCB11 O95342 VAR_059106 p.Val444Asp Polymorphism rs2287622 - ABCB11 O95342 VAR_059107 p.Val444Gly Polymorphism rs2287622 - ABCB1 P08183 VAR_013361 p.Ser893Ala Polymorphism rs2032582 - ABCB1 P08183 VAR_013362 p.Ser893Thr Polymorphism rs2032582 - ABCB1 P08183 VAR_014704 p.Asn21Asp Polymorphism rs9282564 - ABCB1 P08183 VAR_015001 p.Phe103Leu Polymorphism - - ABCB1 P08183 VAR_015002 p.Gly185Val Polymorphism rs1128501 - ABCB1 P08183 VAR_015003 p.Ser400Asn Polymorphism rs2229109 - ABCB1 P08183 VAR_015004 p.Ala999Thr Polymorphism - - ABCB1 P08183 VAR_015005 p.Gln1107Pro Polymorphism rs55852620 - ABCB1 P08183 VAR_018351 p.Glu108Lys Polymorphism - - ABCB1 P08183 VAR_018352 p.Met986Val Polymorphism - - ABCB1 P08183 VAR_018353 p.Val1251Ile Polymorphism rs28364274 - ABCB1 P08183 VAR_022276 p.Phe17Leu Polymorphism rs28381804 - ABCB1 P08183 VAR_022277 p.Glu566Lys Polymorphism rs28381902 - ABCB1 P08183 VAR_022278 p.Arg593Cys Polymorphism rs28381914 - ABCB1 P08183 VAR_022279 p.Ile836Val Polymorphism rs28381967 - ABCB1 P08183 VAR_022280 p.Pro1051Ala Polymorphism rs28401798 - ABCB1 P08183 VAR_022281 p.Ser1141Thr Polymorphism rs2229107 - ABCB1 P08183 VAR_035737 p.Lys887Asn Unclassified - A colorectal cancer sample ABCB1 P08183 VAR_055423 p.Asn44Ser Polymorphism rs1202183 - ABCB1 P08183 VAR_055424 p.Ala80Glu Polymorphism rs9282565 - ABCB1 P08183 VAR_055425 p.Ile261Val Polymorphism rs36008564 - ABCB1 P08183 VAR_055426 p.Ala599Thr Polymorphism rs2235036 - ABCB1 P08183 VAR_055427 p.Arg669Cys Polymorphism rs35023033 - ABCB1 P08183 VAR_055428 p.Val801Met Polymorphism rs2235039 - ABCB1 P08183 VAR_055429 p.Ile829Val Polymorphism rs2032581 - ABCB4 P21439 VAR_020223 p.Leu238Val Polymorphism rs45596335 - ABCB4 P21439 VAR_020225 p.Arg652Gly Polymorphism rs2230028 - ABCB4 P21439 VAR_023501 p.Thr175Ala Polymorphism rs58238559 - ABCB4 P21439 VAR_023502 p.Ser320Phe Disease - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_023502 p.Ser320Phe Disease - Gallbladder disease type 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_023503 p.Ala546Asp Disease - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_023504 p.Pro1168Ser Disease - Gallbladder disease type 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_024359 p.Arg788Gln Polymorphism - - ABCB4 P21439 VAR_030763 p.Ile263Val Polymorphism rs45547936 - ABCB4 P21439 VAR_030765 p.Thr651Asn Polymorphism rs45476795 - ABCB4 P21439 VAR_043078 p.Asp87Glu Polymorphism - - ABCB4 P21439 VAR_043079 p.Pro95Ser Polymorphism - - ABCB4 P21439 VAR_043080 p.Trp138Arg Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043081 p.Arg150Lys Disease - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_043082 p.Phe165Ile Disease - Gallbladder disease type 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043083 p.Met301Thr Disease - Gallbladder disease type 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043084 p.Ser346Ile Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043085 p.Ile367Val Polymorphism - - ABCB4 P21439 VAR_043086 p.Glu395Gly Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043087 p.Thr424Ala Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043088 p.Val425Met Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043089 p.Glu450Gly Polymorphism - - ABCB4 P21439 VAR_043090 p.Glu528Asp Polymorphism rs8187797 - ABCB4 P21439 VAR_043091 p.Gly535Asp Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043092 p.Ile541Phe Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043093 p.Leu556Arg Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043094 p.Asp564Gly Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043095 p.Arg590Gln Polymorphism rs45575636 - ABCB4 P21439 VAR_043096 p.Leu591Gln Disease - Gallbladder disease type 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043097 p.Phe711Ser Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043098 p.Gly742Ser Polymorphism - - ABCB4 P21439 VAR_043099 p.Gly762Glu Disease - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_043100 p.Ile764Leu Unclassified - - ABCB4 P21439 VAR_043101 p.Thr775Met Polymorphism - - ABCB4 P21439 VAR_043102 p.Ala934Thr Disease - Gallbladder disease type 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043103 p.Gly983Ser Disease rs56187107 Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043104 p.Leu1082Gln Unclassified - - ABCB5 Q2M3G0 VAR_028387 p.Lys115Glu Polymorphism rs2301641 - ABCB5 Q2M3G0 VAR_028388 p.Lys224Arg Polymorphism rs13222448 - ABCB5 Q2M3G0 VAR_028389 p.Ala470Thr Polymorphism rs17143304 - ABCB5 Q2M3G0 VAR_028390 p.Glu525Lys Polymorphism rs6461515 - ABCB5 Q2M3G0 VAR_033456 p.Gln460His Polymorphism rs35885925 - ABCB5 Q2M3G0 VAR_035731 p.Glu230Val Unclassified - A colorectal cancer sample ABCB5 Q2M3G0 VAR_062662 p.Ala435Thr Unclassified - A pancreatic ductal adenocarcinoma sample ABCB6 Q9NP58 VAR_029749 p.Arg648Gln Polymorphism rs13402964 - ABCB6 Q9NP58 VAR_035732 p.Arg69Gly Unclassified - A breast cancer sample ABCB6 Q9NP58 VAR_047552 p.Leu293Val Polymorphism rs13018440 - ABCB6 Q9NP58 VAR_060986 p.Arg343Gln Polymorphism rs60322991 - ABCB7 O75027 VAR_009156 p.Ile400Met Disease - X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310] ABCB7 O75027 VAR_012640 p.Glu433Lys Disease - X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310] ABCB7 O75027 VAR_022872 p.Arg315Gly Polymorphism - - ABCB7 O75027 VAR_022873 p.Phe346Ile Polymorphism - - ABCB7 O75027 VAR_022874 p.Val411Leu Disease - X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310] ABCB7 O75027 VAR_037972 p.Val581Ala Polymorphism rs1340989 - ABCB7 O75027 VAR_055471 p.Ala580Val Polymorphism rs1340989 - ABCB8 Q9NUT2 VAR_013331 p.Val152Ile Polymorphism - - ABCB8 Q9NUT2 VAR_035733 p.Ile165Thr Unclassified - A breast cancer sample ABCB8 Q9NUT2 VAR_035734 p.Ala690Gly Unclassified - A breast cancer sample ABCB9 Q9NP78 VAR_013701 p.Val121Met Polymorphism rs3803002 - ABCC10 Q5T3U5 VAR_028391 p.Ile948Thr Polymorphism rs2125739 - ABCC11 Q96J66 VAR_025437 p.Arg19His Polymorphism rs16945988 - ABCC11 Q96J66 VAR_025438 p.Gly180Arg Polymorphism rs17822931 - ABCC11 Q96J66 VAR_048144 p.Ala317Glu Polymorphism rs11863236 - ABCC11 Q96J66 VAR_048145 p.Thr546Met Polymorphism rs17822471 - ABCC11 Q96J66 VAR_048146 p.Val648Ile Polymorphism rs16945930 - ABCC11 Q96J66 VAR_048147 p.Val687Ile Polymorphism rs16945928 - ABCC11 Q96J66 VAR_048148 p.Lys735Arg Polymorphism rs16945926 - ABCC11 Q96J66 VAR_048149 p.His1344Arg Polymorphism rs16945916 - ABCC12 Q96J65 VAR_028392 p.Ile9Leu Polymorphism rs16945901 - ABCC12 Q96J65 VAR_028393 p.Ala102Glu Polymorphism rs16945874 - ABCC12 Q96J65 VAR_028394 p.Asn587Tyr Polymorphism rs16945816 - ABCC12 Q96J65 VAR_028395 p.Lys894Met Polymorphism rs8057474 - ABCC12 Q96J65 VAR_028396 p.Thr989Ser Polymorphism rs6500305 - ABCC12 Q96J65 VAR_028397 p.Tyr1013His Polymorphism rs6500304 - ABCC12 Q96J65 VAR_028398 p.Arg1117Cys Polymorphism rs7193955 - ABCC12 Q96J65 VAR_028399 p.Glu1191Ala Polymorphism rs16945787 - ABCC12 Q96J65 VAR_028400 p.Phe1349Leu Polymorphism rs12373105 - ABCC12 Q96J65 VAR_048139 p.Glu690Val Polymorphism rs34135219 - ABCC12 Q96J65 VAR_048140 p.Ile1187Thr Polymorphism rs34106426 - ABCC13 Q9NSE7 VAR_020247 p.Ser228Asn Polymorphism rs2822558 - ABCC1 P33527 VAR_011488 p.Arg633Gln Polymorphism - - ABCC1 P33527 VAR_011489 p.Gly671Val Polymorphism rs45511401 - ABCC1 P33527 VAR_013317 p.Cys43Ser Polymorphism rs41395947 - ABCC1 P33527 VAR_013318 p.Thr73Ile Polymorphism rs41494447 - ABCC1 P33527 VAR_013319 p.Met117Thr Polymorphism - - ABCC1 P33527 VAR_013320 p.Arg433Ser Polymorphism rs60782127 - ABCC1 P33527 VAR_013321 p.Arg723Gln Polymorphism rs4148356 - ABCC1 P33527 VAR_013322 p.Arg1058Gln Polymorphism rs41410450 - ABCC1 P33527 VAR_013323 p.Ser1512Leu Polymorphism - - ABCC1 P33527 VAR_055384 p.Ala861Thr Polymorphism rs45517537 - ABCC1 P33527 VAR_055385 p.Cys1047Ser Polymorphism rs13337489 - ABCC1 P33527 VAR_055386 p.Val1146Ile Polymorphism rs28706727 - ABCC2 Q92887 VAR_000099 p.Arg768Trp Disease rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500] ABCC2 Q92887 VAR_010756 p.Gln1382Arg Disease - Dubin-Johnson syndrome (DJS) [MIM:237500] ABCC2 Q92887 VAR_013324 p.Ser281Asn Polymorphism rs56131651 - ABCC2 Q92887 VAR_013325 p.Val417Ile Polymorphism rs2273697 - ABCC2 Q92887 VAR_013326 p.Ser789Phe Polymorphism rs56220353 - ABCC2 Q92887 VAR_013327 p.Arg1150His Disease - Dubin-Johnson syndrome (DJS) [MIM:237500] ABCC2 Q92887 VAR_013328 p.Ile1173Phe Disease - Dubin-Johnson syndrome (DJS) [MIM:237500] ABCC2 Q92887 VAR_013330 p.Ala1450Thr Polymorphism rs56296335 - ABCC2 Q92887 VAR_020226 p.Asp333Gly Polymorphism rs17222674 - ABCC2 Q92887 VAR_020227 p.Arg353His Polymorphism rs7080681 - ABCC2 Q92887 VAR_020228 p.Ile670Thr Polymorphism rs17222632 - ABCC2 Q92887 VAR_020229 p.Leu849Arg Polymorphism rs17222617 - ABCC2 Q92887 VAR_020230 p.Ile1036Thr Polymorphism rs45441199 - ABCC2 Q92887 VAR_020231 p.Arg1181Leu Polymorphism rs8187692 - ABCC2 Q92887 VAR_020232 p.Val1188Glu Polymorphism rs17222723 - ABCC2 Q92887 VAR_020233 p.Pro1291Leu Polymorphism rs17216317 - ABCC2 Q92887 VAR_020234 p.Cys1515Tyr Polymorphism rs8187710 - ABCC2 Q92887 VAR_024360 p.Thr1273Ala Polymorphism rs8187699 - ABCC2 Q92887 VAR_029113 p.Met246Leu Polymorphism rs17222744 - ABCC2 Q92887 VAR_029115 p.Lys495Glu Polymorphism rs17222561 - ABCC2 Q92887 VAR_029116 p.Phe562Leu Polymorphism rs17216233 - ABCC2 Q92887 VAR_029117 p.Ile982Val Polymorphism rs17222554 - ABCC2 Q92887 VAR_029118 p.Asn1063Ser Polymorphism rs17222540 - ABCC2 Q92887 VAR_047152 p.Tyr39Phe Polymorphism rs927344 - ABCC3 O15438 VAR_020235 p.Ser346Phe Polymorphism rs11568605 - ABCC3 O15438 VAR_020237 p.Arg1297His Polymorphism rs11568591 - ABCC3 O15438 VAR_020239 p.Gln1365Arg Polymorphism rs11568590 - ABCC3 O15438 VAR_020240 p.Arg1381Ser Polymorphism rs45461799 - ABCC3 O15438 VAR_029119 p.Gly11Asp Polymorphism rs11568609 - ABCC3 O15438 VAR_029120 p.Arg1286Gly Polymorphism rs11568593 - ABCC4 O15439 VAR_020241 p.Met184Thr Polymorphism rs45454092 - ABCC4 O15439 VAR_020242 p.Gly187Trp Polymorphism rs11568658 - ABCC4 O15439 VAR_020243 p.Lys498Glu Polymorphism rs11568669 - ABCC4 O15439 VAR_020244 p.Met744Val Polymorphism rs9282570 - ABCC4 O15439 VAR_020245 p.Val860Met Polymorphism rs45477596 - ABCC4 O15439 VAR_020246 p.Val900Leu Polymorphism rs45504892 - ABCC4 O15439 VAR_022072 p.Lys304Asn Polymorphism rs2274407 - ABCC4 O15439 VAR_022073 p.Glu757Lys Polymorphism rs3765534 - ABCC4 O15439 VAR_029121 p.Pro78Ala Polymorphism rs11568689 - ABCC4 O15439 VAR_029122 p.Pro403Leu Polymorphism rs11568705 - ABCC4 O15439 VAR_029123 p.Gly487Glu Polymorphism rs11568668 - ABCC4 O15439 VAR_029124 p.Ile625Met Polymorphism rs11568699 - ABCC4 O15439 VAR_029125 p.Pro667Leu Polymorphism rs11568697 - ABCC4 O15439 VAR_029126 p.Thr1142Met Unclassified - - ABCC4 O15439 VAR_045684 p.Tyr556Cys Unclassified - - ABCC4 O15439 VAR_045685 p.Val776Ile Unclassified - - ABCC4 O15439 VAR_045686 p.Arg820Ile Polymorphism rs11568659 - ABCC4 O15439 VAR_045687 p.Val854Phe Unclassified - - ABCC4 O15439 VAR_045688 p.Ile866Val Unclassified - - ABCC4 O15439 VAR_046445 p.Leu18Ile Polymorphism rs11568681 - ABCC4 O15439 VAR_046446 p.Cys171Gly Polymorphism rs4148460 - ABCC4 O15439 VAR_046447 p.Lys293Glu Polymorphism rs11568684 - ABCC4 O15439 VAR_046448 p.Thr356Met Polymorphism rs11568701 - ABCC6 O95255 VAR_011490 p.Val614Ala Polymorphism rs12931472 - ABCC6 O95255 VAR_011491 p.Arg1114Pro Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_011492 p.Arg1138Gln Disease rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_011493 p.Arg1138Trp Disease rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_011494 p.Arg1268Gln Polymorphism rs2238472 - ABCC6 O95255 VAR_011495 p.Arg1314Trp Disease rs63750759 Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473] ABCC6 O95255 VAR_011495 p.Arg1314Trp Disease rs63750759 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013364 p.Gly61Asp Polymorphism - - ABCC6 O95255 VAR_013365 p.Arg64Trp Polymorphism - - ABCC6 O95255 VAR_013366 p.Gly207Arg Polymorphism - - ABCC6 O95255 VAR_013367 p.Arg265Gly Polymorphism rs78629019 - ABCC6 O95255 VAR_013368 p.Lys281Glu Polymorphism rs4780606 - ABCC6 O95255 VAR_013369 p.Ile319Val Polymorphism rs72657699 - ABCC6 O95255 VAR_013370 p.Thr364Arg Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013371 p.Asn411Lys Disease rs9930886 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013372 p.Ala455Pro Disease rs67996819 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013373 p.Asn497Lys Polymorphism rs72653770 - ABCC6 O95255 VAR_013374 p.Arg518Gln Disease rs72653772 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013375 p.Phe568Ser Disease rs66864704 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013376 p.His632Gln Polymorphism rs8058694 - ABCC6 O95255 VAR_013377 p.Leu673Pro Disease rs67470842 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013378 p.Arg765Gln Disease rs67561842 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013379 p.Leu953His Polymorphism rs72657700 - ABCC6 O95255 VAR_013380 p.Ser1121Trp Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013381 p.Arg1138Pro Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013382 p.Gly1203Asp Disease rs63750607 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013383 p.Trp1241Cys Polymorphism rs72657701 - ABCC6 O95255 VAR_013384 p.Val1298Phe Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013385 p.Thr1301Ile Disease rs63750494 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013386 p.Gly1302Arg Disease rs63749856 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013387 p.Ala1303Pro Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013388 p.Arg1314Gln Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013389 p.Gly1321Ser Disease rs63749823 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013390 p.Arg1339Cys Disease rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013391 p.Gln1347His Disease rs67720869 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013392 p.Gly1354Arg Disease rs63750018 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013393 p.Asp1361Asn Disease rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013394 p.Ile1424Thr Disease rs63750295 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_055477 p.Val665Ala Polymorphism rs4341770 - ABCC6 O95255 VAR_059108 p.Met848Val Polymorphism rs6416668 - ABCC6 O95255 VAR_060988 p.Leu1097Ile Polymorphism rs60707953 - ABCC8 Q09428 VAR_000100 p.Gly716Val Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008537 p.Arg1352Pro Disease rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008539 p.Arg1420Cys Disease rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008540 p.Arg1493Trp Disease rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008639 p.Arg74Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008640 p.His125Gln Disease rs60637558 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008641 p.Val187Asp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008642 p.Asn188Ser Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008643 p.Arg275Gln Polymorphism - - ABCC8 Q09428 VAR_008644 p.Asn406Asp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008645 p.Val560Met Polymorphism rs4148619 - ABCC8 Q09428 VAR_008646 p.Phe591Leu Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008647 p.Asp810Asn Polymorphism - - ABCC8 Q09428 VAR_008648 p.Arg834Cys Polymorphism - - ABCC8 Q09428 VAR_008649 p.Thr1138Met Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008650 p.Arg1214Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008651 p.Val1360Gly Polymorphism - - ABCC8 Q09428 VAR_008652 p.Ala1369Ser Polymorphism rs757110 - ABCC8 Q09428 VAR_008653 p.Gly1378Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008654 p.Gly1381Ser Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008655 p.Arg1393His Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008656 p.Gly1478Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008658 p.Val1572Ile Polymorphism rs8192690 - ABCC8 Q09428 VAR_015006 p.Asp673Asn Polymorphism - - ABCC8 Q09428 VAR_015007 p.Val1360Met Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015008 p.Arg1436Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015009 p.Glu1506Lys Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015010 p.Leu1543Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_029777 p.Leu104Val Polymorphism rs10400391 - ABCC8 Q09428 VAR_029778 p.Phe132Leu Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_029779 p.Leu213Arg Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_029780 p.Cys435Arg Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029781 p.Leu582Val Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029782 p.His1023Tyr Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029783 p.Arg1182Gln Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029784 p.Arg1352His Disease - Leucine-induced hypoglycemia (LIH) [MIM:240800] ABCC8 Q09428 VAR_029785 p.Arg1379Cys Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029787 p.Ile1424Val Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_031349 p.Gly7Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031350 p.Val21Asp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031351 p.Phe27Ser Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031352 p.Gly70Glu Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031353 p.Arg74Trp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031354 p.Val86Ala Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_031355 p.Gly111Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031356 p.Ala116Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031357 p.Met233Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031358 p.Asp310Asn Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031359 p.Cys418Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031360 p.Arg495Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031361 p.Glu501Lys Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031362 p.Leu503Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031363 p.Leu508Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031364 p.Pro551Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031365 p.Arg620Cys Disease rs58241708 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031366 p.Phe686Ser Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031367 p.Lys719Thr Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031368 p.Arg841Gly Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031369 p.Lys889Thr Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031370 p.Ser956Phe Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031371 p.Thr1130Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031372 p.Leu1147Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031373 p.Arg1214Trp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031374 p.Asn1295Lys Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031375 p.Lys1336Asn Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031376 p.Gly1342Glu Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031377 p.Leu1349Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031378 p.Lys1384Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031379 p.Ser1386Phe Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031380 p.Gly1400Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031381 p.Arg1418His Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031382 p.Leu1450Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031383 p.Ala1457Thr Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031384 p.Asp1471His Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031385 p.Asp1471Asn Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031386 p.Arg1486Lys Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031387 p.Arg1493Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031388 p.Val1550Asp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031389 p.Leu1551Val Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] ABCC9 O60706 VAR_018483 p.Ala1513Thr Disease - Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569] ABCC9 O60706 VAR_048143 p.Pro1108Ser Polymorphism rs35404804 - ABCD1 P33897 VAR_000024 p.Ser98Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000025 p.Arg104Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000026 p.Arg104His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000027 p.Thr105Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000028 p.Leu107Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000029 p.Ser108Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000030 p.Gly116Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000033 p.Ala141Thr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000034 p.Asn148Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000035 p.Ser149Asn Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000036 p.Arg152Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000037 p.Arg152Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000038 p.Arg163His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000039 p.Tyr174Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000040 p.Tyr174Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000041 p.Gln178Glu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000042 p.Tyr181Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000043 p.Arg182Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000044 p.Asp194His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000045 p.Asp200Val Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000046 p.Leu211Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000047 p.Leu220Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000048 p.Asp221Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000049 p.Thr254Met Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000050 p.Thr254Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000051 p.Pro263Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000052 p.Gly266Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000053 p.Lys276Glu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000054 p.Gly277Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000056 p.Gly277Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000057 p.Glu291Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000058 p.Glu291Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000060 p.Ala294Thr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000061 p.Ser342Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000062 p.Arg389Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000063 p.Arg389His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000064 p.Arg401Gln Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000065 p.Arg418Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000066 p.Pro484Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000067 p.Gly507Val Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000068 p.Gly512Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000069 p.Ser515Phe Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000070 p.Arg518Gln Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000071 p.Arg518Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000072 p.Gly522Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000074 p.Pro534Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000075 p.Pro560Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000076 p.Pro560Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000077 p.Met566Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000078 p.Arg591Gln Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000079 p.Ser606Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000080 p.Ser606Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000081 p.Glu609Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000082 p.Glu609Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000083 p.Arg617Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000084 p.Arg617Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000085 p.Arg617His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000086 p.Ala626Thr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000087 p.Asp629His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000089 p.Arg660Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_000090 p.Trp679Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009349 p.Glu90Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009350 p.Ser103Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009351 p.Thr105Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009352 p.Ser108Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009353 p.Arg113Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009354 p.Pro143Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009355 p.Arg152Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009356 p.Arg152Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009357 p.Ser161Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009358 p.Arg163Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009359 p.Tyr174Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009360 p.Arg189Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009361 p.Leu190Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009362 p.Thr198Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009363 p.Asp200Asn Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009364 p.Ser213Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009365 p.Asn214Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009366 p.Pro218Thr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009367 p.Leu229Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009368 p.Glu271Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009369 p.Arg285Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009370 p.Tyr296Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009371 p.Gly298Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009372 p.Glu302Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009373 p.Leu322Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009374 p.Lys336Met Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009375 p.Arg401Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009376 p.Gly529Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009377 p.Phe540Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009378 p.Pro543Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009379 p.Gln544Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009380 p.Ser552Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009381 p.Arg554His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009382 p.Arg591Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009383 p.Ala616Val Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009384 p.Glu630Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009385 p.Cys631Tyr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009386 p.Ser633Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009387 p.Ser636Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009388 p.Asp638Tyr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009389 p.Ala646Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009390 p.Leu654Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009391 p.His667Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009392 p.Thr668Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_009393 p.Thr693Met Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013340 p.Asn13Thr Polymorphism - - ABCD1 P33897 VAR_013341 p.Ala99Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013342 p.Arg113Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013344 p.Lys217Glu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013345 p.Val224Glu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013346 p.Arg274Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013347 p.Arg280Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013349 p.Trp339Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013350 p.Gly343Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013352 p.Gln556Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013353 p.Pro560Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013354 p.Arg591Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013355 p.Gly608Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013356 p.Ala626Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013357 p.Thr632Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013358 p.Ser633Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013359 p.Val635Met Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_013360 p.Arg660Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_023004 p.Cys88Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_023005 p.Gly343Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_023006 p.Leu503Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD1 P33897 VAR_023007 p.Ser514Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] ABCD2 Q9UBJ2 VAR_062664 p.Gln244Lys Unclassified - A pancreatic ductal adenocarcinoma sample ABCD3 P28288 VAR_000091 p.Gly17Asp Unclassified - - ABCD4 O14678 VAR_020222 p.Glu368Lys Polymorphism rs3742801 - ABCD4 O14678 VAR_020778 p.Ala304Thr Polymorphism rs4148077 - ABCD4 O14678 VAR_048134 p.Val172Ile Polymorphism rs34992370 - ABCD4 O14678 VAR_048135 p.Thr350Arg Polymorphism rs35073715 - ABCF1 Q8NE71 VAR_048136 p.Asn198Asp Polymorphism rs6902544 - ABCF3 Q9NUQ8 VAR_027247 p.Pro503Leu Polymorphism rs11706273 - ABCF3 Q9NUQ8 VAR_027248 p.Arg510His Polymorphism rs9811715 - ABCG1 P45844 VAR_012279 p.Phe668Leu Polymorphism - - ABCG2 Q9UNQ0 VAR_018349 p.Phe431Leu Polymorphism - - ABCG2 Q9UNQ0 VAR_018350 p.Phe489Leu Polymorphism - - ABCG2 Q9UNQ0 VAR_020779 p.Val12Met Polymorphism rs2231137 - ABCG2 Q9UNQ0 VAR_020780 p.Gln141Lys Polymorphism rs2231142 - ABCG2 Q9UNQ0 VAR_022443 p.Thr316Pro Polymorphism - - ABCG2 Q9UNQ0 VAR_022704 p.Gln166Glu Polymorphism rs1061017 - ABCG2 Q9UNQ0 VAR_022705 p.Ile206Leu Polymorphism - - ABCG2 Q9UNQ0 VAR_022706 p.Phe208Ser Polymorphism rs1061018 - ABCG2 Q9UNQ0 VAR_022707 p.Ser248Pro Polymorphism rs3116448 - ABCG2 Q9UNQ0 VAR_022708 p.Phe571Ile Polymorphism rs9282571 - ABCG2 Q9UNQ0 VAR_022709 p.Asp620Asn Polymorphism - - ABCG2 Q9UNQ0 VAR_030357 p.Asp296His Polymorphism rs41282401 - ABCG2 Q9UNQ0 VAR_030358 p.Ala528Thr Polymorphism rs45605536 - ABCG2 Q9UNQ0 VAR_035355 p.Asn590Tyr Polymorphism - - ABCG4 Q9H172 VAR_048141 p.Pro352Leu Polymorphism rs35060365 - ABCG5 Q9H222 VAR_012244 p.Glu146Gln Disease - Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_012245 p.Arg389His Disease - Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_012246 p.Arg419His Disease - Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_012247 p.Arg419Pro Disease - Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_012248 p.Arg550Ser Disease - Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_012249 p.Gln604Glu Polymorphism rs6720173 - ABCG5 Q9H222 VAR_020781 p.Asn437Lys Disease - Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_020782 p.Ile523Val Polymorphism - - ABCG5 Q9H222 VAR_020783 p.Cys600Tyr Polymorphism - - ABCG5 Q9H222 VAR_020784 p.Met622Val Polymorphism - - ABCG5 Q9H222 VAR_033457 p.Thr517Ser Polymorphism rs17031672 - ABCG5 Q9H222 VAR_048142 p.Arg50Cys Polymorphism rs6756629 - ABCG8 Q9H221 VAR_012250 p.Asp19His Polymorphism rs11887534 - ABCG8 Q9H221 VAR_012251 p.Tyr54Cys Polymorphism rs4148211 - ABCG8 Q9H221 VAR_012252 p.Arg184His Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012253 p.Pro231Thr Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012254 p.Glu238Lys Polymorphism rs34754243 - ABCG8 Q9H221 VAR_012255 p.Ala259Val Polymorphism rs35518570 - ABCG8 Q9H221 VAR_012256 p.Arg263Gln Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012257 p.Thr400Lys Polymorphism rs4148217 - ABCG8 Q9H221 VAR_012258 p.Arg405His Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012259 p.Leu501Pro Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012260 p.Arg543Ser Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012262 p.Leu572Pro Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012263 p.Gly574Glu Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012264 p.Gly574Arg Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012265 p.Gly575Arg Polymorphism rs36209700 - ABCG8 Q9H221 VAR_012266 p.Leu596Arg Disease - Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012267 p.Val632Ala Polymorphism rs6544718 - ABCG8 Q9H221 VAR_020785 p.Tyr641Phe Polymorphism - - ABCG8 Q9H221 VAR_022074 p.Val210Met Polymorphism rs9282574 - ABCG8 Q9H221 VAR_022075 p.Met655Val Polymorphism rs9282573 - ABHD10 Q9NUJ1 VAR_031194 p.Ile251Val Polymorphism rs17429033 - ABHD12B Q7Z5M8 VAR_019100 p.Phe334Leu Polymorphism rs7154732 - ABHD12B Q7Z5M8 VAR_035676 p.Ile282Val Unclassified - A breast cancer sample ABHD12 Q8N2K0 VAR_050630 p.Ala349Thr Polymorphism rs746748 - ABHD14A Q9BUJ0 VAR_031390 p.Arg32Gln Polymorphism rs17849626 - ABHD14A Q9BUJ0 VAR_031391 p.Cys61Trp Polymorphism rs404527 - ABHD15 Q6UXT9 VAR_045821 p.Thr334Ala Polymorphism rs542939 - ABHD16B Q9H3Z7 VAR_050920 p.Leu10Gln Polymorphism rs2281534 - ABHD1 Q96SE0 VAR_031087 p.Asp137Glu Polymorphism rs6715286 - ABHD1 Q96SE0 VAR_031088 p.Trp371Cys Polymorphism rs2304678 - ABHD1 Q96SE0 VAR_052484 p.Pro54Gln Polymorphism rs34127901 - ABHD2 P08910 VAR_031203 p.Arg253Gln Polymorphism rs17851730 - ABHD3 Q8WU67 VAR_031089 p.Arg3Cys Polymorphism rs17851878 - ABHD5 Q8WTS1 VAR_023387 p.Glu7Lys Disease - Chanarin-Dorfman syndrome (CDS) [MIM:275630] ABHD5 Q8WTS1 VAR_023388 p.Gln130Pro Disease rs28939077 Chanarin-Dorfman syndrome (CDS) [MIM:275630] ABHD5 Q8WTS1 VAR_023389 p.Glu260Lys Disease rs28939078 Chanarin-Dorfman syndrome (CDS) [MIM:275630] ABHD5 Q8WTS1 VAR_037574 p.Ile72Thr Polymorphism rs2302349 - ABHD5 Q8WTS1 VAR_057953 p.His82Arg Unclassified - - ABHD5 Q8WTS1 VAR_057954 p.Ser115Gly Disease - Chanarin-Dorfman syndrome (CDS) [MIM:275630] ABI1 Q8IZP0 VAR_048159 p.Gly331Ala Polymorphism rs2306236 - ABI3 Q9P2A4 VAR_022030 p.Arg44Gln Polymorphism rs2233369 - ABI3 Q9P2A4 VAR_060243 p.Ser203Phe Polymorphism rs616338 - ABI3 Q9P2A4 VAR_060993 p.Phe209Ser Polymorphism rs616338 - ABL1 P00519 VAR_025043 p.Gly706Val Polymorphism rs34634745 - ABL1 P00519 VAR_025044 p.Thr852Pro Polymorphism - - ABL1 P00519 VAR_025045 p.Pro900Ser Polymorphism rs35266696 - ABL1 P00519 VAR_025046 p.Ser972Leu Polymorphism rs2229067 - ABL1 P00519 VAR_032676 p.Arg47Gly Unclassified - A lung large cell carcinoma sample ABL1 P00519 VAR_032677 p.Arg166Lys Unclassified - A melanoma sample ABL1 P00519 VAR_032678 p.Pro810Leu Polymorphism rs2229071 - ABL1 P00519 VAR_051692 p.Leu140Pro Polymorphism rs1064152 - ABL1 P00519 VAR_051693 p.Lys247Arg Polymorphism rs34549764 - ABL1 P00519 VAR_051694 p.Ser968Pro Polymorphism rs1064165 - ABL2 P42684 VAR_029232 p.Lys930Arg Polymorphism rs17277288 - ABL2 P42684 VAR_029233 p.Val946Met Polymorphism rs28913889 - ABL2 P42684 VAR_029234 p.Pro996Arg Polymorphism rs28913890 - ABL2 P42684 VAR_029235 p.Ser1085Asn Polymorphism rs28913891 - ABL2 P42684 VAR_029236 p.Thr1101Ala Polymorphism rs28913892 - ABL2 P42684 VAR_055411 p.Arg78His Polymorphism rs55655202 - ABL2 P42684 VAR_055412 p.Glu99Gln Unclassified - - ABL2 P42684 VAR_055413 p.Arg519Ile Unclassified - - ABL2 P42684 VAR_055414 p.Thr769Ser Polymorphism rs55892721 - ABLIM1 O14639 VAR_050141 p.Pro434Thr Polymorphism rs11593544 - ABLIM1 O14639 VAR_050142 p.Arg637Gly Polymorphism rs7091419 - ABLIM2 Q6H8Q1 VAR_062665 p.Gly227Arg Unclassified - A pancreatic ductal adenocarcinoma sample ABLIM2 Q6H8Q1 VAR_062666 p.Lys274Met Unclassified - A pancreatic ductal adenocarcinoma sample ABLIM3 O94929 VAR_050143 p.Gly125Asp Polymorphism rs35907283 - ABO P16442 VAR_003409 p.Pro156Leu Polymorphism rs1053878 - ABO P16442 VAR_003410 p.Arg176Gly Polymorphism rs7853989 - ABO P16442 VAR_003411 p.Gly235Ser Polymorphism rs8176743 - ABO P16442 VAR_003412 p.Leu266Met Polymorphism rs8176746 - ABO P16442 VAR_003413 p.Gly268Ala Polymorphism rs8176747 - ABO P16442 VAR_003414 p.Arg352Trp Polymorphism - - ABO P16442 VAR_019147 p.Gly35Arg Polymorphism rs8176696 - ABO P16442 VAR_019148 p.Val36Phe Polymorphism rs688976 - ABO P16442 VAR_019149 p.Arg63His Polymorphism rs549446 - ABO P16442 VAR_019150 p.Pro74Ser Polymorphism rs512770 - ABO P16442 VAR_019151 p.Arg161His Polymorphism rs8176738 - ABO P16442 VAR_019152 p.Arg199Cys Polymorphism rs8176739 - ABO P16442 VAR_019153 p.Phe216Ile Polymorphism rs8176740 - ABO P16442 VAR_019154 p.Val277Met Polymorphism rs8176748 - ABO P16442 VAR_033540 p.Pro257Leu Polymorphism rs8176745 - ABO P16442 VAR_033541 p.Gly268Arg Polymorphism rs8176747 - ABO P16442 VAR_036738 p.Thr163Met Polymorphism rs55756402 - ABO P16442 VAR_036739 p.Arg198Trp Polymorphism rs56223957 - ABO P16442 VAR_036740 p.Met214Arg Polymorphism rs55827808 - ABO P16442 VAR_036741 p.Glu223Asp Polymorphism - - ABO P16442 VAR_036742 p.Met288Arg Polymorphism - - ABO P16442 VAR_036743 p.Asp291Asn Polymorphism - - ABO P16442 VAR_036744 p.Lys346Met Polymorphism - - ABO P16442 VAR_036745 p.Arg352Gly Polymorphism - - ABO P16442 VAR_055227 p.Gly230Arg Unclassified - - ABP1 P19801 VAR_007542 p.His645Asp Polymorphism rs1049793 - ABP1 P19801 VAR_025078 p.Thr16Met Polymorphism rs10156191 - ABP1 P19801 VAR_025079 p.Ser332Phe Polymorphism rs1049742 - ABP1 P19801 VAR_025080 p.Met479Ile Polymorphism rs45558339 - ABP1 P19801 VAR_025081 p.Asn659His Polymorphism rs35070995 - ABR Q12979 VAR_057186 p.Lys517Arg Polymorphism rs34169260 - ABTB2 Q8N961 VAR_022087 p.His64Gln Polymorphism rs1925368 - ABTB2 Q8N961 VAR_024171 p.Thr732Ala Polymorphism rs2473928 - ACAA1 P09110 VAR_011904 p.Glu172Asp Polymorphism rs156265 - ACAA2 P42765 VAR_052577 p.Met217Val Polymorphism rs11549285 - ACACA Q13085 VAR_028929 p.Ala2271Val Polymorphism - - ACACA Q13085 VAR_036514 p.Arg1687Gln Unclassified - A colorectal cancer sample ACACA Q13085 VAR_042941 p.Arg838Trp Polymorphism rs2287351 - ACACB O00763 VAR_031255 p.Ile552Val Polymorphism rs16940029 - ACACB O00763 VAR_031256 p.Ala651Thr Polymorphism rs2300455 - ACACB O00763 VAR_031257 p.Val2141Ile Polymorphism rs2075260 - ACACB O00763 VAR_062667 p.Arg193Leu Unclassified - A pancreatic ductal adenocarcinoma sample ACAD10 Q6JQN1 VAR_031811 p.Gln200Arg Polymorphism rs35276160 - ACAD10 Q6JQN1 VAR_031812 p.Thr216Pro Polymorphism rs35753710 - ACAD10 Q6JQN1 VAR_031813 p.Asp463Asn Polymorphism rs36046440 - ACAD10 Q6JQN1 VAR_031814 p.Ala880Val Polymorphism rs34245489 - ACAD11 Q709F0 VAR_028825 p.Arg157His Polymorphism rs821572 - ACAD11 Q709F0 VAR_028826 p.Val362Leu Polymorphism rs6776576 - ACAD8 Q9UKU7 VAR_035071 p.Met128Ile Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035072 p.Asp134Tyr Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035073 p.Gly137Arg Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035074 p.Met152Thr Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035075 p.Val203Ile Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035076 p.Arg302Gln Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035077 p.Ala320Thr Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035078 p.Arg334Cys Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035079 p.Gln385Arg Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD9 Q9H845 VAR_033459 p.Arg477Gln Polymorphism rs4494951 - ACADL P28330 VAR_000328 p.Ser303Thr Polymorphism rs1801204 - ACADL P28330 VAR_000329 p.Lys333Gln Polymorphism rs2286963 - ACADM P11310 VAR_000317 p.Arg53Cys Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000319 p.Met149Ile Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000320 p.Thr193Ala Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000321 p.Gly195Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000322 p.Cys244Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000323 p.Gly267Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000324 p.Met326Thr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000325 p.Lys329Glu Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000326 p.Ser336Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000327 p.Ile375Thr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_013698 p.Tyr67His Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_013699 p.Ser245Leu Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_013700 p.Arg281Thr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015954 p.Ile78Thr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015955 p.Cys116Tyr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015956 p.Thr121Ile Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015957 p.Arg206Leu Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015958 p.Gly310Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015959 p.Tyr352Cys Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_035716 p.Pro132Arg Unclassified - A breast cancer sample ACADSB P45954 VAR_013010 p.Leu255Phe Disease - Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006] ACADSB P45954 VAR_014749 p.Ser209Gly Polymorphism rs1799823 - ACADSB P45954 VAR_048177 p.Arg13Lys Polymorphism rs12263012 - ACADSB P45954 VAR_048178 p.Ile316Val Polymorphism rs1131430 - ACADSB P45954 VAR_048179 p.Glu376Gly Polymorphism rs12357783 - ACADS P16219 VAR_000310 p.Arg46Trp Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000311 p.Gly92Cys Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000312 p.Arg107Cys Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000314 p.Trp177Arg Disease rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000315 p.Gly209Ser Polymorphism rs1799958 - ACADS P16219 VAR_000316 p.Arg383Cys Disease rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013565 p.Gly90Ser Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013567 p.Arg171Trp Polymorphism rs1800556 - ACADS P16219 VAR_013568 p.Ala192Val Disease rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013569 p.Arg325Trp Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013570 p.Ser353Leu Disease rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_013571 p.Arg380Trp Disease rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_033458 p.Arg383His Polymorphism rs35233375 - ACADVL P49748 VAR_000330 p.Gly43Asp Polymorphism rs2230178 - ACADVL P49748 VAR_000332 p.Thr158Asn Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000333 p.Gln159Arg Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000334 p.Val174Met Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000335 p.Gly185Ser Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000336 p.Glu218Lys Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000337 p.Leu243Arg Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000338 p.Lys247Thr Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000339 p.Thr260Met Disease rs113994168 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000341 p.Ala281Asp Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000342 p.Val283Ala Disease rs113994167 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000343 p.Gly290Asp Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000344 p.Gly294Glu Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000345 p.Lys299Asn Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000347 p.Val317Ala Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000348 p.Met352Val Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000349 p.Arg366Cys Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000350 p.Arg366His Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000352 p.Lys382Gln Disease rs118204015 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000353 p.Asp405His Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000354 p.Gly441Asp Disease rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000355 p.Arg450His Disease rs118204016 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000356 p.Arg453Gln Disease rs138058572 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000357 p.Asp454Asn Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000358 p.Arg456His Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000359 p.Arg459Trp Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000360 p.Gly463Glu Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000361 p.Arg469Gln Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000362 p.Arg469Trp Disease rs113994170 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000363 p.Leu502Pro Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000364 p.Leu602Ile Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000365 p.Arg613Trp Disease rs118204014 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010101 p.Ala213Pro Disease rs140629318 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010102 p.Lys247Glu Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010103 p.Phe458Leu Disease rs118204017 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010104 p.Ala490Pro Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010105 p.Glu534Lys Disease rs2230180 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010106 p.Arg615Gln Disease rs148584617 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_011990 p.Ala359Ser Polymorphism rs1051701 - ACADVL P49748 VAR_011991 p.Ser623Phe Polymorphism rs13383 - ACADVL P49748 VAR_029286 p.Leu17Phe Polymorphism rs2230179 - ACADVL P49748 VAR_048176 p.Pro65Leu Polymorphism rs28934585 - ACAN P16112 VAR_056152 p.Asp102Glu Polymorphism rs16942318 - ACAN P16112 VAR_056153 p.Arg275Gln Polymorphism rs34949187 - ACAN P16112 VAR_056154 p.Pro1943Leu Polymorphism rs35061438 - ACAN P16112 VAR_056155 p.Ser2005Arg Polymorphism rs34153007 - ACAN P16112 VAR_063053 p.Asp2266Asn Disease - Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813] ACAN P16112 VAR_063765 p.Val2303Met Disease - Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800] ACAP1 Q15027 VAR_036178 p.Lys114Arg Unclassified - A breast cancer sample ACAP1 Q15027 VAR_036179 p.Arg129Gln Unclassified - A colorectal cancer sample ACAP1 Q15027 VAR_048328 p.Arg68Cys Polymorphism rs35933585 - ACAP1 Q15027 VAR_048329 p.Arg533Trp Polymorphism rs35019942 - ACAT1 P24752 VAR_007496 p.Ala5Pro Polymorphism rs3741056 - ACAT1 P24752 VAR_007498 p.Asn93Ser Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007499 p.Gly152Ala Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007500 p.Asn158Asp Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007501 p.Gly183Arg Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007502 p.Thr297Met Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007503 p.Ala301Pro Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007504 p.Ile312Thr Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007505 p.Ala333Pro Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007506 p.Gly379Val Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007507 p.Ala380Thr Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT2 Q9BWD1 VAR_019686 p.Lys211Arg Polymorphism rs25683 - ACBD3 Q9H3P7 VAR_019615 p.Glu187Asp Polymorphism rs2306120 - ACBD4 Q8NC06 VAR_055478 p.Pro118Leu Polymorphism rs901754 - ACBD4 Q8NC06 VAR_059109 p.Arg242Gly Polymorphism rs16939879 - ACBD5 Q5T8D3 VAR_032301 p.Thr472Met Polymorphism rs7918793 - ACCSL Q4AC99 VAR_060626 p.Cys529Arg Polymorphism rs2074051 - ACCS Q96QU6 VAR_038685 p.Gly221Glu Unclassified rs35514614 A breast cancer sample ACCS Q96QU6 VAR_038686 p.Ser393Leu Unclassified - A breast cancer sample ACCS Q96QU6 VAR_038687 p.Pro421Leu Polymorphism rs3107275 - ACCS Q96QU6 VAR_048227 p.Asp59Asn Polymorphism rs33952257 - ACCS Q96QU6 VAR_048228 p.Asp134Glu Polymorphism rs2018795 - ACD Q96AP0 VAR_060224 p.Thr301Met Polymorphism rs72547495 - ACD Q96AP0 VAR_060225 p.Val518Ala Polymorphism rs6979 - ACE2 Q9BYF1 VAR_023082 p.Lys26Arg Polymorphism rs4646116 - ACE2 Q9BYF1 VAR_023083 p.Asn638Ser Polymorphism - - ACE P12821 VAR_011707 p.Ala261Ser Polymorphism rs4303 - ACE P12821 VAR_011708 p.Arg561Trp Polymorphism rs4314 - ACE P12821 VAR_011709 p.Arg1286Ser Polymorphism rs4364 - ACE P12821 VAR_014189 p.Ile1018Thr Polymorphism rs4976 - ACE P12821 VAR_014190 p.Phe1051Val Polymorphism rs4977 - ACE P12821 VAR_014191 p.Arg1279Gln Polymorphism rs4980 - ACE P12821 VAR_014192 p.Gln1296Pro Polymorphism rs4981 - ACE P12821 VAR_020053 p.Asp592Gly Polymorphism rs12709426 - ACE P12821 VAR_023430 p.Tyr244Cys Polymorphism rs3730025 - ACE P12821 VAR_023431 p.Pro351Leu Polymorphism rs2229839 - ACE P12821 VAR_023432 p.Thr916Met Polymorphism rs3730043 - ACE P12821 VAR_023433 p.Thr1187Met Polymorphism rs12709442 - ACE P12821 VAR_023434 p.Pro1228Leu Unclassified - - ACE P12821 VAR_029139 p.Ala154Thr Polymorphism rs13306087 - ACE P12821 VAR_029140 p.Ala183Thr Polymorphism rs12720754 - ACE P12821 VAR_029141 p.Arg379Gln Polymorphism rs13306085 - ACE P12821 VAR_029142 p.Val524Ala Polymorphism rs12720746 - ACE P12821 VAR_034602 p.Met828Thr Polymorphism rs13306091 - ACE P12821 VAR_035434 p.Gly354Arg Polymorphism rs56394458 - ACE P12821 VAR_054000 p.Arg260Cys Polymorphism rs4302 - ACE P12821 VAR_054001 p.Arg260Leu Polymorphism rs4303 - ACER2 Q5QJU3 VAR_027150 p.Ala134Val Polymorphism rs10964136 - ACHE P22303 VAR_002359 p.His353Asn Polymorphism rs1799805 - ACHE P22303 VAR_011934 p.Val333Glu Polymorphism rs8286 - ACHE P22303 VAR_021325 p.Arg34Gln Polymorphism rs17881553 - ACHE P22303 VAR_021326 p.Pro135Ala Polymorphism rs17885778 - ACIN1 Q9UKV3 VAR_022031 p.Ile311Met Polymorphism rs3811182 - ACIN1 Q9UKV3 VAR_022032 p.Ser467Pro Polymorphism rs1885097 - ACIN1 Q9UKV3 VAR_022033 p.Ser478Phe Polymorphism rs3751501 - ACIN1 Q9UKV3 VAR_035777 p.Arg1160Gln Unclassified - A colorectal cancer sample ACIN1 Q9UKV3 VAR_050632 p.Arg257Lys Polymorphism rs11555803 - ACIN1 Q9UKV3 VAR_061547 p.Ala447Pro Polymorphism rs941719 - ACLY P53396 VAR_028230 p.Glu175Asp Polymorphism rs2304497 - ACO1 P21399 VAR_048180 p.Ala395Asp Polymorphism rs3814519 - ACO1 P21399 VAR_048181 p.Gly486Arg Polymorphism rs34630459 - ACO2 Q99798 VAR_033297 p.Ala768Ser Polymorphism rs1804785 - ACO2 Q99798 VAR_036572 p.Thr697Asn Unclassified - A breast cancer sample ACOT11 Q8WXI4 VAR_022119 p.Pro165Leu Polymorphism rs2304306 - ACOT11 Q8WXI4 VAR_022120 p.Gly202Asp Polymorphism rs1702003 - ACOT11 Q8WXI4 VAR_022121 p.Met212Ile Polymorphism rs2304305 - ACOT11 Q8WXI4 VAR_048190 p.Arg11Trp Polymorphism rs34630746 - ACOT11 Q8WXI4 VAR_048191 p.Arg536His Polymorphism rs12403630 - ACOT12 Q8WYK0 VAR_048192 p.Val230Ile Polymorphism rs34607174 - ACOT12 Q8WYK0 VAR_048193 p.Ala403Thr Polymorphism rs10371 - ACOT12 Q8WYK0 VAR_064691 p.Leu190His Unclassified - - ACOT1 Q86TX2 VAR_059830 p.Arg266His Polymorphism rs1049568 - ACOT2 P49753 VAR_016136 p.His475Arg Polymorphism rs7494 - ACOT2 P49753 VAR_057271 p.Arg16Ser Polymorphism rs11545741 - ACOT4 Q8N9L9 VAR_052300 p.Arg57Cys Polymorphism rs3742819 - ACOT4 Q8N9L9 VAR_052301 p.Ala187Asp Polymorphism rs35724886 - ACOT6 Q3I5F7 VAR_052302 p.Glu166Lys Polymorphism rs17782052 - ACOT9 Q9Y305 VAR_062668 p.Asn305His Unclassified - A pancreatic ductal adenocarcinoma sample ACOX1 Q15067 VAR_021529 p.Ile312Met Polymorphism rs1135640 - ACOX1 Q15067 VAR_025789 p.Gly178Cys Disease - Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_025790 p.Met278Val Disease - Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_030619 p.Thr153Ile Polymorphism rs17855420 - ACOX1 Q15067 VAR_048182 p.Gly101Ser Polymorphism rs3744032 - ACOX3 O15254 VAR_030802 p.Glu34Ala Polymorphism rs12513296 - ACOX3 O15254 VAR_030803 p.Asp497Asn Polymorphism rs13434465 - ACOXL Q9NUZ1 VAR_035164 p.Thr255Met Polymorphism rs1554005 - ACOXL Q9NUZ1 VAR_035165 p.Pro535Leu Polymorphism rs17041850 - ACP1 P24666 VAR_006171 p.Gln106Arg Polymorphism rs7576247 - ACP1 P24666 VAR_050526 p.Lys7Asn Polymorphism rs11691572 - ACP1 P24666 VAR_050527 p.Ser137Phe Polymorphism rs35569198 - ACP2 P11117 VAR_027801 p.Arg29Gln Polymorphism rs2167079 - ACP2 P11117 VAR_034394 p.Ser320Phe Polymorphism rs34425282 - ACP2 P11117 VAR_050519 p.Val402Ile Polymorphism rs4647764 - ACP5 P13686 VAR_020602 p.Val148Met Polymorphism rs2305799 - ACP5 P13686 VAR_020603 p.Val200Met Polymorphism rs2229531 - ACP5 P13686 VAR_029288 p.Val221Ile Polymorphism rs2229532 - ACP6 Q9NPH0 VAR_022678 p.Val316Met Polymorphism rs6593795 - ACPP P15309 VAR_047960 p.Ser15Asn Polymorphism rs17850347 - ACPP P15309 VAR_047961 p.Phe124Val Polymorphism rs17856254 - ACPP P15309 VAR_047962 p.Trp226Arg Polymorphism rs17856253 - ACPP P15309 VAR_047963 p.Tyr330His Polymorphism rs17851392 - ACPP P15309 VAR_047964 p.Val360Ala Polymorphism rs17850198 - ACRBP Q8NEB7 VAR_050633 p.Thr336Ala Polymorphism rs3741923 - ACRC Q96QF7 VAR_038520 p.Thr662Ile Polymorphism rs2280962 - ACRC Q96QF7 VAR_050634 p.Arg471His Polymorphism rs10217999 - ACR P10323 VAR_011650 p.Leu120Val Polymorphism rs1064734 - ACR P10323 VAR_011651 p.Phe166Leu Polymorphism rs1064735 - ACRV1 P26436 VAR_050680 p.Gly126Arg Polymorphism rs34788353 - ACSBG1 Q96GR2 VAR_038314 p.Glu194Val Polymorphism rs12899901 - ACSBG1 Q96GR2 VAR_038315 p.Met633Val Polymorphism rs2304824 - ACSBG1 Q96GR2 VAR_038316 p.Ala673Val Polymorphism rs11072735 - ACSBG2 Q5FVE4 VAR_038317 p.Val143Ala Polymorphism rs4807840 - ACSBG2 Q5FVE4 VAR_038318 p.Lys152Arg Polymorphism rs33937754 - ACSBG2 Q5FVE4 VAR_038319 p.Gly584Asp Polymorphism rs17851959 - ACSBG2 Q5FVE4 VAR_038320 p.Gly586Asp Polymorphism rs17851960 - ACSBG2 Q5FVE4 VAR_038321 p.Pro601Arg Polymorphism rs35609668 - ACSBG2 Q5FVE4 VAR_038322 p.Arg624Lys Polymorphism rs17856650 - ACSBG2 Q5FVE4 VAR_038323 p.Glu626Gln Polymorphism rs17856651 - ACSBG2 Q5FVE4 VAR_038324 p.Arg650Ser Polymorphism rs35605352 - ACSF2 Q96CM8 VAR_038304 p.Gly75Val Polymorphism rs17856448 - ACSF2 Q96CM8 VAR_038305 p.Val316Met Polymorphism rs3744523 - ACSF3 Q4G176 VAR_038306 p.Leu2Pro Polymorphism rs7188200 - ACSF3 Q4G176 VAR_038307 p.Ala17Pro Polymorphism rs11547019 - ACSF3 Q4G176 VAR_038308 p.Val372Met Polymorphism rs3743979 - ACSL3 O95573 VAR_026716 p.Phe551Ser Polymorphism rs1046032 - ACSL4 O60488 VAR_013180 p.Arg570Ser Disease - Mental retardation X-linked type 63 (MRX63) [MIM:300387] ACSL4 O60488 VAR_036376 p.Arg133Cys Unclassified - A colorectal cancer sample ACSL5 Q9ULC5 VAR_022117 p.Met182Val Polymorphism rs3736946 - ACSL5 Q9ULC5 VAR_036377 p.Lys388Arg Unclassified - A colorectal cancer sample ACSL5 Q9ULC5 VAR_036378 p.Gly466Asp Unclassified - A colorectal cancer sample ACSL5 Q9ULC5 VAR_048240 p.Thr486Ala Polymorphism rs12254915 - ACSM1 Q08AH1 VAR_035245 p.Ile479Val Polymorphism rs8056709 - ACSM1 Q08AH1 VAR_035246 p.Ile515Thr Polymorphism rs16970453 - ACSM1 Q08AH1 VAR_048238 p.Ile272Met Polymorphism rs16970511 - ACSM2A Q08AH3 VAR_035247 p.Ser513Leu Polymorphism rs1133607 - ACSM2A Q08AH3 VAR_035248 p.Ala561Thr Polymorphism rs1054977 - ACSM2A Q08AH3 VAR_058692 p.Val335Leu Polymorphism rs4643305 - ACSM2A Q08AH3 VAR_058693 p.Thr336Ala Polymorphism rs5002299 - ACSM2A Q08AH3 VAR_058694 p.Val337Gly Polymorphism rs4586421 - ACSM3 Q53FZ2 VAR_035249 p.Leu100Pro Polymorphism rs5713 - ACSM3 Q53FZ2 VAR_035250 p.Pro308Thr Polymorphism rs7196188 - ACSM3 Q53FZ2 VAR_035251 p.Lys367Asn Polymorphism rs5716 - ACSM3 Q53FZ2 VAR_048239 p.Asp270His Polymorphism rs13306603 - ACSM4 P0C7M7 VAR_061010 p.Arg481His Polymorphism rs61584783 - ACSM5 Q6NUN0 VAR_035252 p.Gln159His Polymorphism - - ACSM5 Q6NUN0 VAR_035253 p.Pro352Arg Polymorphism rs8062344 - ACSM5 Q6NUN0 VAR_035254 p.His360Arg Polymorphism rs12931877 - ACSM5 Q6NUN0 VAR_035255 p.Thr533Met Polymorphism rs56308819 - ACSM5 Q6NUN0 VAR_055495 p.Arg65Gln Polymorphism rs9928053 - ACSM5 Q6NUN0 VAR_055496 p.Glu182Lys Polymorphism rs7192210 - ACSM5 Q6NUN0 VAR_061011 p.Met217Val Polymorphism rs59025904 - ACSM6 Q6P461 VAR_043606 p.Lys227Arg Polymorphism rs7090248 - ACSM6 Q6P461 VAR_063090 p.Glu19Gly Polymorphism rs591157 - ACSM6 Q6P461 VAR_063091 p.Cys40Ser Polymorphism rs11188225 - ACSS1 Q9NUB1 VAR_048184 p.Val488Met Polymorphism rs6050249 - ACTA1 P68133 VAR_011680 p.Gly17Arg Disease - Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800] ACTA1 P68133 VAR_011681 p.Leu96Pro Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011682 p.Asn117Ser Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011683 p.Ile138Met Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011684 p.Val165Leu Disease - Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800] ACTA1 P68133 VAR_011685 p.Glu261Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011686 p.Gly270Cys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011687 p.Val372Phe Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_013470 p.Met134Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_013471 p.Met271Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015579 p.His42Tyr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015580 p.Gly184Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015581 p.Arg185Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015582 p.Arg185Cys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015583 p.Arg258His Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015584 p.Gln265Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015585 p.Asn282Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015586 p.Asp288Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_015587 p.Ile359Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_032917 p.Leu223Pro Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] ACTA1 P68133 VAR_032918 p.Asp294Val Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] ACTA1 P68133 VAR_032919 p.Pro334Ser Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] ACTA1 P68133 VAR_062424 p.Asp3Tyr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062425 p.Asp27Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062426 p.Val37Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062427 p.Pro40Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062428 p.Gln43Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062429 p.Gly44Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062430 p.Val45Phe Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062431 p.Ile66Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062432 p.Thr68Ile Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062433 p.Glu74Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062434 p.His75Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062435 p.His75Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062436 p.Ile77Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062437 p.Thr79Ala Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062438 p.Glu85Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062439 p.Ala116Thr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062440 p.Asn117Thr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062441 p.Arg118His Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062442 p.Val136Ala Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062443 p.Ala140Pro Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062444 p.Leu142Pro Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062445 p.Gly148Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062446 p.Thr150Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062447 p.Asp156Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062448 p.Val165Met Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062449 p.Ala172Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062450 p.Asp181Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062451 p.Asp181His Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062452 p.Asp181Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062453 p.Arg185Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062454 p.Arg185Ser Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062455 p.Arg198Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062456 p.Gly199Ser Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062457 p.Glu226Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062458 p.Glu226Gln Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062459 p.Asn227Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062460 p.Met229Ile Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062461 p.Met229Thr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062462 p.Met229Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062463 p.Glu243Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062464 p.Gln248Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062465 p.Gln248Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062466 p.Gly253Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062467 p.Arg258Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062468 p.Gly270Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062469 p.Gly270Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062470 p.Ala274Glu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062471 p.Tyr281His Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062472 p.Met285Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062473 p.Glu336Ala Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062474 p.Lys338Glu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062475 p.Lys338Ile Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062476 p.Ser350Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062477 p.Arg374Ser Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062478 p.Lys375Glu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062479 p.Lys375Gln Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800] ACTA2 P62736 VAR_011944 p.Thr196Ser Polymorphism rs1803028 - ACTA2 P62736 VAR_011945 p.Thr320Ala Polymorphism rs1803027 - ACTA2 P62736 VAR_011946 p.His373Pro Polymorphism rs1062398 - ACTA2 P62736 VAR_045915 p.Asn117Thr Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045916 p.Arg118Gln Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045917 p.Tyr135His Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045918 p.Arg149Cys Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045919 p.Val154Ala Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045920 p.Arg258Cys Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045921 p.Arg258His Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045922 p.Arg292Gly Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045923 p.Thr353Asn Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062577 p.Arg39His Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062578 p.Tyr145Cys Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062579 p.Arg185Gln Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062580 p.Arg212Gln Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062581 p.Thr326Asn Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_064516 p.Arg179His Disease - Moyamoya disease type 5 (MYMY5) [MIM:614042] ACTA2 P62736 VAR_064516 p.Arg179His Disease - Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834] ACTB P60709 VAR_030026 p.Arg183Trp Disease - Dystonia juvenile-onset (DYTJ) [MIM:607371] ACTB P60709 VAR_048185 p.Pro243Leu Polymorphism rs11546899 - ACTC1 P68032 VAR_012857 p.Glu101Lys Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012858 p.Pro166Ala Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012859 p.Ala297Ser Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012860 p.Arg314His Disease - Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424] ACTC1 P68032 VAR_012861 p.Ala333Pro Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012862 p.Glu363Gly Disease - Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424] ACTC1 P68032 VAR_045924 p.His90Tyr Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_045925 p.Arg97Cys Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_046502 p.Met125Val Disease - Atrial septal defect type 5 (ASD5) [MIM:612794] ACTC1 P68032 VAR_046503 p.Tyr168Cys Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_046504 p.Met307Leu Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] ACTG1 P63261 VAR_032434 p.Thr89Ile Disease rs28999111 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032435 p.Lys118Met Disease - Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032436 p.Pro264Leu Disease - Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032437 p.Thr278Ile Disease rs28999112 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032438 p.Pro332Ala Disease - Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032439 p.Val370Ala Disease - Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_048186 p.Thr160Ile Polymorphism rs11549206 - ACTG1 P63261 VAR_055482 p.Pro243Leu Polymorphism rs11546899 - ACTL7A Q9Y615 VAR_024362 p.Val340Met Polymorphism rs7872077 - ACTL7A Q9Y615 VAR_031425 p.Arg45Cys Polymorphism - - ACTL7A Q9Y615 VAR_033460 p.Ala161Pro Polymorphism rs35995497 - ACTL7A Q9Y615 VAR_060998 p.Leu343Val Polymorphism rs56031956 - ACTL8 Q9H568 VAR_032079 p.Ala3Ser Polymorphism rs694214 - ACTL8 Q9H568 VAR_032080 p.Arg245Cys Polymorphism rs3795322 - ACTL9 Q8TC94 VAR_043000 p.Phe37Ser Polymorphism rs2340550 - ACTL9 Q8TC94 VAR_043001 p.Ala42Asp Unclassified - A colorectal cancer sample ACTL9 Q8TC94 VAR_043002 p.Val51Ala Polymorphism rs10410943 - ACTL9 Q8TC94 VAR_043003 p.His227Asn Polymorphism rs4804079 - ACTL9 Q8TC94 VAR_043004 p.Ala332Thr Unclassified - A colorectal cancer sample ACTN1 P12814 VAR_053883 p.Asn707Thr Polymorphism rs7157661 - ACTN1 P12814 VAR_053884 p.Thr868Ser Polymorphism rs11557769 - ACTN2 P35609 VAR_033487 p.Met604Val Polymorphism rs35997569 - ACTN2 P35609 VAR_054628 p.Gln9Arg Disease - Cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158] ACTN3 Q08043 VAR_012705 p.Arg523Gln Polymorphism rs1671064 - ACTN3 Q08043 VAR_033488 p.Glu635Ala Polymorphism rs2229456 - ACTN3 Q08043 VAR_047528 p.Cys628Arg Polymorphism rs618838 - ACTN3 Q08043 VAR_047529 p.Gln776Arg Polymorphism rs540874 - ACTN4 O43707 VAR_010378 p.Lys255Glu Disease rs28939374 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_010379 p.Thr259Ile Disease rs28939375 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_010380 p.Ser262Pro Disease rs28939376 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278] ACTR1B P42025 VAR_025315 p.Val93Ala Polymorphism rs11547231 - ACTR1B P42025 VAR_048187 p.Ala143Val Polymorphism rs11692435 - ACTR3B Q9P1U1 VAR_048188 p.Arg250Gln Polymorphism rs2260545 - ACTR5 Q9H9F9 VAR_027158 p.Arg298Leu Polymorphism rs17853829 - ACTR5 Q9H9F9 VAR_027159 p.Ile483Val Polymorphism rs2245231 - ACTR5 Q9H9F9 VAR_027160 p.Pro580Leu Polymorphism rs3752289 - ACTR5 Q9H9F9 VAR_048189 p.Ile461Leu Polymorphism rs35805905 - ACTR8 Q9H981 VAR_028033 p.Thr56Ile Polymorphism rs3733082 - ACTRT2 Q8TDY3 VAR_020416 p.Gly247Arg Polymorphism rs3795263 - ACTRT3 Q9BYD9 VAR_055483 p.Glu234Lys Polymorphism rs2068178 - ACVR1B P36896 VAR_011716 p.Leu408Val Polymorphism rs928906 - ACVR1B P36896 VAR_041406 p.Phe146Leu Polymorphism rs34488074 - ACVR1C Q8NER5 VAR_041407 p.Ile195Thr Polymorphism - - ACVR1C Q8NER5 VAR_041408 p.Gly216Arg Polymorphism - - ACVR1C Q8NER5 VAR_041409 p.Trp267Arg Unclassified - A lung squamous cell carcinoma sample ACVR1C Q8NER5 VAR_041410 p.Ile355Val Polymorphism - - ACVR1C Q8NER5 VAR_041411 p.Ile482Val Polymorphism rs7594480 - ACVR1 Q04771 VAR_028444 p.Arg206His Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_041392 p.Ala15Gly Polymorphism rs13406336 - ACVR1 Q04771 VAR_041393 p.Ser41Phe Polymorphism rs55957214 - ACVR1 Q04771 VAR_041394 p.His47Gln Polymorphism rs34056189 - ACVR1 Q04771 VAR_041395 p.Pro115Ser Unclassified - A melanoma sample ACVR1 Q04771 VAR_058419 p.Arg202Ile Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058420 p.Gln207Glu Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058421 p.Gly328Glu Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058422 p.Gly328Arg Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058423 p.Gly328Trp Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058424 p.Gly356Asp Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058425 p.Arg375Pro Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR2A P27037 VAR_032809 p.Ser258Arg Polymorphism rs34917571 - ACVR2A P27037 VAR_032810 p.Asp306Asn Unclassified - A gastric adenocarcinoma sample ACVR2A P27037 VAR_064692 p.Ala367Thr Unclassified - - ACVR2B Q13705 VAR_013281 p.Arg40His Disease - Visceral heterotaxy autosomal type 4 (HTX4) [MIM:613751] ACVR2B Q13705 VAR_013282 p.Val494Ile Disease - Visceral heterotaxy autosomal type 4 (HTX4) [MIM:613751] ACVR2B Q13705 VAR_041396 p.Pro176Arg Polymorphism rs35882617 - ACVR2B Q13705 VAR_050594 p.Glu459Asp Polymorphism rs500611 - ACVRL1 P37023 VAR_006204 p.Trp50Cys Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006205 p.Cys51Tyr Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006206 p.Arg67Gln Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006207 p.Cys77Trp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006208 p.Asn96Asp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006210 p.Ser333Ile Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006211 p.Arg374Trp Disease rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006212 p.Met376Arg Disease rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006213 p.Arg411Gln Disease rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006214 p.Pro424Thr Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_011717 p.Ile245Asn Polymorphism rs1804508 - ACVRL1 P37023 VAR_026785 p.Gly48Arg Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026786 p.Arg67Trp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026787 p.Asp179Ala Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026788 p.Gly211Asp Disease rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026789 p.Glu215Lys Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026790 p.Gly223Arg Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026791 p.Lys229Arg Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026794 p.Leu285Phe Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026795 p.Ala306Pro Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026796 p.His314Tyr Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026797 p.Leu337Pro Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026798 p.Cys344Tyr Disease rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026799 p.Ala347Pro Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026800 p.Arg374Gln Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026801 p.Met376Val Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026802 p.Pro378Leu Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026803 p.Glu379Lys Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026804 p.Asp397Gly Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026805 p.Ile398Asn Disease rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026806 p.Trp399Ser Disease rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026807 p.Glu407Asp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026808 p.Arg411Pro Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026809 p.Arg411Trp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026810 p.Phe425Leu Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026811 p.Phe425Val Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026813 p.Arg479Leu Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026814 p.Ala482Val Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026815 p.Arg484Trp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026816 p.Lys487Thr Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] ACY1 Q03154 VAR_020452 p.Arg386Cys Disease rs2229152 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_026104 p.Glu233Asp Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_026105 p.Arg353Cys Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_036076 p.Glu381Asp Unclassified - A breast cancer sample ACY1 Q03154 VAR_043113 p.Arg197Trp Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_043114 p.Arg393His Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_051805 p.Asn179Ser Polymorphism rs887540 - ACY1 Q03154 VAR_065562 p.Arg378Gln Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_065563 p.Arg378Trp Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY3 Q96HD9 VAR_048341 p.Arg8Gln Polymorphism rs948445 - ACY3 Q96HD9 VAR_048342 p.Val281Met Polymorphism rs2290959 - ADAD2 Q8NCV1 VAR_036976 p.Gly44Glu Polymorphism rs8044695 - ADAD2 Q8NCV1 VAR_055650 p.Gly235Arg Polymorphism rs11149631 - ADAM11 O75078 VAR_062669 p.Ser693Arg Unclassified - A pancreatic ductal adenocarcinoma sample ADAM12 O43184 VAR_036143 p.Asp301His Unclassified - A breast cancer sample ADAM12 O43184 VAR_036144 p.Gly479Glu Unclassified - A breast cancer sample ADAM12 O43184 VAR_036145 p.Leu792Phe Unclassified - A breast cancer sample ADAM12 O43184 VAR_038542 p.Gly48Arg Polymorphism rs3740199 - ADAM15 Q13444 VAR_054339 p.Pro502Gln Polymorphism rs17093828 - ADAM15 Q13444 VAR_060315 p.Lys191Thr Polymorphism rs6427128 - ADAM15 Q13444 VAR_060316 p.Pro294His Polymorphism rs2306122 - ADAM17 P78536 VAR_051586 p.Lys162Glu Polymorphism rs34431503 - ADAM17 P78536 VAR_051587 p.Arg202Gly Polymorphism rs2230818 - ADAM18 Q9Y3Q7 VAR_051588 p.Val212Phe Polymorphism rs10093794 - ADAM19 Q9H013 VAR_036146 p.Arg133Gln Unclassified - A colorectal cancer sample ADAM19 Q9H013 VAR_036147 p.Ala298Thr Unclassified - A colorectal cancer sample ADAM19 Q9H013 VAR_057066 p.Gly4Ser Polymorphism rs11465228 - ADAM19 Q9H013 VAR_062670 p.His609Gln Unclassified - A pancreatic ductal adenocarcinoma sample ADAM20 O43506 VAR_047311 p.Phe19Leu Polymorphism rs1059166 - ADAM22 Q9P0K1 VAR_020057 p.Pro81Arg Polymorphism rs2279542 - ADAM22 Q9P0K1 VAR_051589 p.His119Tyr Polymorphism rs4728730 - ADAM22 Q9P0K1 VAR_051590 p.Val207Ile Polymorphism rs17255978 - ADAM28 Q9UKQ2 VAR_024596 p.Val765Met Polymorphism rs7814768 - ADAM28 Q9UKQ2 VAR_057067 p.Arg219Met Polymorphism rs9314282 - ADAM28 Q9UKQ2 VAR_057068 p.Glu226Asp Polymorphism rs17736699 - ADAM28 Q9UKQ2 VAR_057069 p.Asn493Ser Polymorphism rs7001647 - ADAM28 Q9UKQ2 VAR_057070 p.Thr593Lys Polymorphism rs36041430 - ADAM28 Q9UKQ2 VAR_057071 p.Thr604Pro Polymorphism rs35617826 - ADAM28 Q9UKQ2 VAR_057072 p.Met684Ile Polymorphism rs7829965 - ADAM29 Q9UKF5 VAR_036148 p.Pro31Leu Unclassified - A colorectal cancer sample ADAM29 Q9UKF5 VAR_036149 p.Val205Ile Unclassified - A colorectal cancer sample ADAM2 Q99965 VAR_035217 p.Gly10Trp Polymorphism rs34800519 - ADAM30 Q9UKF2 VAR_024597 p.Leu359Pro Polymorphism rs2641348 - ADAM30 Q9UKF2 VAR_061738 p.Thr737Ala Polymorphism rs35273427 - ADAM32 Q8TC27 VAR_051591 p.Thr467Ser Polymorphism rs7845771 - ADAM32 Q8TC27 VAR_055241 p.Gln98Arg Polymorphism rs17856744 - ADAM32 Q8TC27 VAR_055242 p.Ser160Gly Polymorphism rs17852343 - ADAM32 Q8TC27 VAR_055243 p.Leu327Val Polymorphism rs9643859 - ADAM32 Q8TC27 VAR_055244 p.Lys658Asn Polymorphism rs13277386 - ADAM32 Q8TC27 VAR_061739 p.Asp778Glu Polymorphism rs28705715 - ADAM33 Q9BZ11 VAR_021847 p.Met764Thr Polymorphism rs2280091 - ADAM33 Q9BZ11 VAR_029143 p.Thr178Ala Polymorphism rs3918392 - ADAM33 Q9BZ11 VAR_029144 p.Pro774Ser Polymorphism rs2280090 - ADAM33 Q9BZ11 VAR_030512 p.Asn109Ser Polymorphism rs41467948 - ADAM33 Q9BZ11 VAR_030513 p.Thr272Met Polymorphism rs41534847 - ADAM33 Q9BZ11 VAR_030514 p.Val316Ile Polymorphism rs41459049 - ADAM33 Q9BZ11 VAR_030515 p.Pro336Ser Polymorphism rs41483049 - ADAM33 Q9BZ11 VAR_030516 p.Ala365Ser Polymorphism rs41419248 - ADAM33 Q9BZ11 VAR_030517 p.Asp441Glu Polymorphism rs41382144 - ADAM33 Q9BZ11 VAR_030518 p.Trp515Arg Polymorphism rs615436 - ADAM33 Q9BZ11 VAR_030519 p.Leu612His Polymorphism rs41453444 - ADAM33 Q9BZ11 VAR_030520 p.Val710Ile Polymorphism rs3918396 - ADAM33 Q9BZ11 VAR_030521 p.Cys739Gly Polymorphism rs41434648 - ADAM33 Q9BZ11 VAR_030522 p.Asp742Tyr Polymorphism rs41462450 - ADAM7 Q9H2U9 VAR_046728 p.Glu25Gln Polymorphism rs34852692 - ADAM7 Q9H2U9 VAR_046729 p.Ile205Val Polymorphism rs7829386 - ADAM7 Q9H2U9 VAR_046730 p.Val244Met Polymorphism rs13255694 - ADAM7 Q9H2U9 VAR_046731 p.Ile453Thr Polymorphism rs3736281 - ADAM7 Q9H2U9 VAR_046732 p.Leu570Val Polymorphism rs2307044 - ADAM7 Q9H2U9 VAR_046733 p.Asn638His Polymorphism rs13259668 - ADAM7 Q9H2U9 VAR_046734 p.Leu735Pro Polymorphism rs6980829 - ADAM8 P78325 VAR_059760 p.Gly101Arg Polymorphism rs11101675 - ADAM8 P78325 VAR_061735 p.Arg189Trp Polymorphism rs45451297 - ADAM8 P78325 VAR_061736 p.Arg433Cys Polymorphism rs12257830 - ADAM8 P78325 VAR_061737 p.Ile775Thr Polymorphism rs3008319 - ADAMDEC1 O15204 VAR_021848 p.Asn444Ser Polymorphism rs3765124 - ADAMDEC1 O15204 VAR_024598 p.Met121Thr Polymorphism rs7007084 - ADAMTS10 Q9H324 VAR_054439 p.Ala25Thr Disease - Weill-Marchesani syndrome 1 (WMS1) [MIM:277600] ADAMTS10 Q9H324 VAR_054440 p.Arg119Gln Polymorphism rs3814291 - ADAMTS10 Q9H324 VAR_054441 p.Thr134Ser Polymorphism rs7255721 - ADAMTS12 P58397 VAR_057074 p.Gln110Glu Polymorphism rs16891862 - ADAMTS12 P58397 VAR_057075 p.Arg1000Gln Polymorphism rs13362345 - ADAMTS12 P58397 VAR_058972 p.Thr1495Ile Polymorphism rs25754 - ADAMTS12 P58397 VAR_059761 p.Trp1177Arg Polymorphism rs3813474 - ADAMTS12 P58397 VAR_059762 p.Ser1591Pro Polymorphism rs16891281 - ADAMTS13 Q76LX8 VAR_027109 p.Arg7Trp Polymorphism rs34024143 - ADAMTS13 Q76LX8 VAR_027110 p.Val88Met Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027111 p.His96Asp Disease rs121908467 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027112 p.Arg102Cys Disease rs121908469 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027113 p.Arg193Trp Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027114 p.Thr196Ile Disease rs121908470 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027115 p.His234Gln Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027116 p.Ala250Val Disease rs121908478 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027117 p.Arg268Pro Disease rs121908477 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027118 p.Trp390Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027119 p.Arg398His Disease rs121908471 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027120 p.Gln448Glu Polymorphism rs2301612 - ADAMTS13 Q76LX8 VAR_027121 p.Pro475Ser Polymorphism rs11575933 - ADAMTS13 Q76LX8 VAR_027122 p.Cys508Tyr Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027123 p.Arg528Gly Disease rs121908473 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027124 p.Pro618Ala Polymorphism rs28647808 - ADAMTS13 Q76LX8 VAR_027125 p.Arg625His Polymorphism rs36090624 - ADAMTS13 Q76LX8 VAR_027126 p.Ile673Phe Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027127 p.Arg692Cys Disease rs121908475 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027128 p.Ala732Val Polymorphism rs41314453 - ADAMTS13 Q76LX8 VAR_027129 p.Ala900Val Polymorphism rs685523 - ADAMTS13 Q76LX8 VAR_027130 p.Ser903Leu Polymorphism rs78977446 - ADAMTS13 Q76LX8 VAR_027131 p.Cys908Tyr Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027132 p.Cys951Gly Disease rs121908468 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027133 p.Cys1024Gly Disease rs121908472 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027134 p.Ala1033Thr Polymorphism rs28503257 - ADAMTS13 Q76LX8 VAR_027135 p.Arg1095Trp Unclassified - - ADAMTS13 Q76LX8 VAR_027136 p.Arg1123Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027137 p.Cys1213Tyr Disease rs121908474 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027138 p.Gly1239Val Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027139 p.Arg1336Trp Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027162 p.Gln456His Polymorphism rs36220239 - ADAMTS13 Q76LX8 VAR_027163 p.Pro457Leu Polymorphism rs36220240 - ADAMTS13 Q76LX8 VAR_027164 p.Glu740Lys Polymorphism rs36221451 - ADAMTS13 Q76LX8 VAR_027165 p.Gly982Arg Polymorphism rs36222275 - ADAMTS13 Q76LX8 VAR_027166 p.Thr1226Ile Polymorphism rs36222894 - ADAMTS14 Q8WXS8 VAR_047837 p.Arg179Cys Polymorphism rs34022601 - ADAMTS14 Q8WXS8 VAR_047838 p.Leu590Pro Polymorphism rs10823607 - ADAMTS14 Q8WXS8 VAR_047839 p.Leu937Met Polymorphism rs12774070 - ADAMTS14 Q8WXS8 VAR_047840 p.Ser1017Asn Polymorphism rs10999516 - ADAMTS14 Q8WXS8 VAR_047841 p.Glu1049Gly Polymorphism rs4747096 - ADAMTS15 Q8TE58 VAR_036150 p.Gln770Arg Unclassified - A colorectal cancer sample ADAMTS15 Q8TE58 VAR_036151 p.Cys878Gly Unclassified - A colorectal cancer sample ADAMTS15 Q8TE58 VAR_051594 p.Asn623Ser Polymorphism rs11222114 - ADAMTS16 Q8TE57 VAR_057076 p.Met110Val Polymorphism rs1863968 - ADAMTS16 Q8TE57 VAR_057077 p.Ala486Thr Polymorphism rs16875054 - ADAMTS16 Q8TE57 VAR_057078 p.Arg789Cys Polymorphism rs9313105 - ADAMTS16 Q8TE57 VAR_057079 p.Arg859Leu Polymorphism rs16875122 - ADAMTS16 Q8TE57 VAR_057080 p.Glu863Lys Polymorphism rs35394775 - ADAMTS17 Q8TE56 VAR_057081 p.Ser216Leu Polymorphism rs7496668 - ADAMTS17 Q8TE56 VAR_057082 p.Met482Thr Polymorphism rs28567966 - ADAMTS17 Q8TE56 VAR_060317 p.Asn1094Ser Polymorphism rs2573652 - ADAMTS17 Q8TE56 VAR_064041 p.Arg566Thr Polymorphism - - ADAMTS18 Q8TE60 VAR_036152 p.Arg382Lys Unclassified - A colorectal cancer sample ADAMTS18 Q8TE60 VAR_036153 p.Lys455Thr Unclassified - A colorectal cancer sample ADAMTS18 Q8TE60 VAR_057083 p.Leu769Ile Polymorphism rs9930984 - ADAMTS18 Q8TE60 VAR_057084 p.Ala946Ser Polymorphism rs12935394 - ADAMTS18 Q8TE60 VAR_057085 p.Ser1080Arg Polymorphism rs35478105 - ADAMTS18 Q8TE60 VAR_057086 p.Ser1159Thr Polymorphism rs3743749 - ADAMTS18 Q8TE60 VAR_060231 p.Tyr191His Polymorphism rs11643211 - ADAMTS18 Q8TE60 VAR_060232 p.Leu626Ile Polymorphism rs11640912 - ADAMTS19 Q8TE59 VAR_024599 p.Tyr1089Phe Polymorphism rs11749126 - ADAMTS19 Q8TE59 VAR_036154 p.Leu360Ile Unclassified - A breast cancer sample ADAMTS19 Q8TE59 VAR_057087 p.Glu582Gly Polymorphism rs10062501 - ADAMTS1 Q9UHI8 VAR_030001 p.Ala227Pro Polymorphism rs428785 - ADAMTS20 P59510 VAR_057088 p.Lys876Met Polymorphism rs7302446 - ADAMTS20 P59510 VAR_057089 p.Arg1000His Polymorphism rs7297737 - ADAMTS20 P59510 VAR_057090 p.Ser1273Phe Polymorphism rs7310011 - ADAMTS2 O95450 VAR_020058 p.Val245Ile Polymorphism rs398829 - ADAMTS2 O95450 VAR_020059 p.Pro1177Ser Polymorphism rs1054480 - ADAMTS2 O95450 VAR_047927 p.Val74Met Polymorphism rs2271211 - ADAMTS2 O95450 VAR_047928 p.Arg241His Polymorphism rs11750821 - ADAMTS2 O95450 VAR_047929 p.Glu331Lys Polymorphism rs17667857 - ADAMTS2 O95450 VAR_047930 p.Gly665Arg Polymorphism rs35372714 - ADAMTS2 O95450 VAR_047931 p.Arg827Gln Polymorphism rs35445112 - ADAMTS3 O15072 VAR_055012 p.Arg138Lys Polymorphism rs788908 - ADAMTS3 O15072 VAR_055013 p.Ser1074Pro Polymorphism rs35864003 - ADAMTS4 O75173 VAR_022450 p.Gln626Arg Polymorphism rs4233367 - ADAMTS4 O75173 VAR_030636 p.Thr4Ile Polymorphism rs17855814 - ADAMTS4 O75173 VAR_030637 p.Asp304Asn Polymorphism rs17855813 - ADAMTS4 O75173 VAR_030638 p.Met369Val Polymorphism rs17855812 - ADAMTS4 O75173 VAR_030639 p.Pro552Thr Polymorphism rs17855815 - ADAMTS4 O75173 VAR_030640 p.Thr564Ala Polymorphism rs17855816 - ADAMTS4 O75173 VAR_030641 p.Arg836Lys Polymorphism rs11807350 - ADAMTS4 O75173 VAR_057073 p.Ala77Thr Polymorphism rs34448954 - ADAMTS5 Q9UNA0 VAR_021849 p.Arg614His Polymorphism rs2830585 - ADAMTS5 Q9UNA0 VAR_028199 p.Gly138Ala Polymorphism rs457947 - ADAMTS5 Q9UNA0 VAR_028200 p.Leu692Pro Polymorphism rs226794 - ADAMTS7 Q9UKP4 VAR_046112 p.Ser214Pro Polymorphism rs3825807 - ADAMTS7 Q9UKP4 VAR_046113 p.Thr307Met Polymorphism rs2127898 - ADAMTS7 Q9UKP4 VAR_046114 p.Thr1319Ala Polymorphism rs11630236 - ADAMTS7 Q9UKP4 VAR_046115 p.Gly1414Ser Polymorphism rs2929155 - ADAMTS7 Q9UKP4 VAR_046116 p.Gly1583Ala Polymorphism rs7495616 - ADAMTS9 Q9P2N4 VAR_047081 p.Ser96Pro Polymorphism rs36115950 - ADAMTS9 Q9P2N4 VAR_047082 p.Lys1579Glu Polymorphism rs17071010 - ADAMTS9 Q9P2N4 VAR_047083 p.Asp1674Glu Polymorphism rs6787633 - ADAMTS9 Q9P2N4 VAR_047084 p.Lys1740Arg Polymorphism rs17070967 - ADAMTS9 Q9P2N4 VAR_047085 p.Glu1791Gln Polymorphism rs3796381 - ADAMTS9 Q9P2N4 VAR_047086 p.Arg1933Gln Polymorphism rs17070905 - ADAMTS9 Q9P2N4 VAR_051592 p.Ser96Thr Polymorphism rs36115950 - ADAMTS9 Q9P2N4 VAR_051593 p.Lys1921Glu Polymorphism rs17070909 - ADAMTSL1 Q8N6G6 VAR_017174 p.Ser242Asn Polymorphism rs776755 - ADAMTSL2 Q86TH1 VAR_046011 p.Val364Ile Polymorphism rs35767802 - ADAMTSL2 Q86TH1 VAR_054874 p.Arg113His Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_054875 p.Glu114Lys Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_054876 p.Pro147Leu Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_054877 p.Gly811Arg Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] ADAMTSL3 P82987 VAR_027478 p.His146Arg Polymorphism rs4483821 - ADAMTSL3 P82987 VAR_027479 p.Leu290Val Polymorphism rs4144691 - ADAMTSL3 P82987 VAR_027480 p.Val661Leu Polymorphism rs4842838 - ADAMTSL3 P82987 VAR_027481 p.Arg855His Polymorphism rs2277848 - ADAMTSL3 P82987 VAR_027482 p.Leu869Phe Polymorphism rs2277849 - ADAMTSL3 P82987 VAR_027483 p.Thr1370Ala Polymorphism rs17158450 - ADAMTSL3 P82987 VAR_027484 p.Met1558Thr Polymorphism rs7175910 - ADAMTSL3 P82987 VAR_027485 p.Thr1660Ile Polymorphism rs950169 - ADAMTSL3 P82987 VAR_027486 p.Arg1679His Polymorphism rs11857906 - ADAMTSL3 P82987 VAR_035809 p.Val330Met Unclassified - A colorectal cancer sample ADAMTSL3 P82987 VAR_035810 p.Arg587His Unclassified - A colorectal cancer sample ADAMTSL3 P82987 VAR_035811 p.Arg855Cys Unclassified - A colorectal cancer sample ADAMTSL3 P82987 VAR_035812 p.Ala1315Glu Unclassified - A colorectal cancer sample ADAMTSL3 P82987 VAR_057365 p.Gly713Arg Polymorphism rs34047645 - ADAMTSL4 Q6UY14 VAR_061918 p.Ala193Pro Polymorphism rs41317515 - ADAMTSL4 Q6UY14 VAR_061919 p.Arg1028His Polymorphism rs56411234 - ADA P00813 VAR_002209 p.Asp8Asn Polymorphism - - ADA P00813 VAR_002210 p.His15Asp Disease rs121908725 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002211 p.Gly20Arg Disease rs121908724 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002212 p.Gly74Cys Disease rs121908730 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002213 p.Arg76Trp Disease rs121908736 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002214 p.Lys80Arg Polymorphism rs11555566 - ADA P00813 VAR_002215 p.Ala83Asp Disease rs121908726 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002216 p.Arg101Leu Disease rs121908720 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002217 p.Arg101Trp Disease rs28930969 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002218 p.Arg101Gln Disease rs28930970 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002219 p.Leu107Pro Disease rs121908739 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002220 p.Val129Met Disease rs121908731 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002221 p.Gly140Glu Disease rs121908732 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002222 p.Arg142Gln Unclassified rs61732239 A pancreatic ductal adenocarcinoma sample ADA P00813 VAR_002223 p.Arg149Gln Disease rs121908737 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002224 p.Arg149Trp Disease rs121908733 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002225 p.Leu152Met Polymorphism rs121908728 - ADA P00813 VAR_002226 p.Arg156Cys Disease rs121908735 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002227 p.Arg156His Disease rs121908722 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002228 p.Val177Met Disease rs121908719 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002229 p.Ala179Asp Disease rs121908727 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002230 p.Gln199Pro Disease rs121908734 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002231 p.Arg211Cys Disease rs121908740 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002232 p.Arg211His Disease rs121908716 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002233 p.Ala215Thr Disease rs114025668 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002234 p.Gly216Arg Disease rs121908723 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002235 p.Thr233Ile Polymorphism rs121908729 - ADA P00813 VAR_002236 p.Pro274Leu Disease rs121908738 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002237 p.Ser291Leu Disease rs121908721 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002238 p.Pro297Gln Disease rs121908718 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002239 p.Leu304Arg Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADA P00813 VAR_002240 p.Ala329Val Disease rs121908715 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] ADAP1 O75689 VAR_047470 p.Gly241Ser Polymorphism rs10256887 - ADARB2 Q9NS39 VAR_020438 p.Ala44Thr Polymorphism rs3793733 - ADARB2 Q9NS39 VAR_035806 p.Thr210Met Unclassified - A colorectal cancer sample ADARB2 Q9NS39 VAR_035807 p.Val512Ile Unclassified - A colorectal cancer sample ADARB2 Q9NS39 VAR_048726 p.Ala626Thr Polymorphism rs2271275 - ADAR P55265 VAR_017240 p.Lys384Arg Polymorphism rs2229857 - ADAR P55265 VAR_017604 p.Leu923Pro Disease rs28936680 Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_017605 p.Phe1165Ser Disease rs28936681 Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_021729 p.Cys966Phe Disease - Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_024407 p.Tyr587Cys Polymorphism rs17843865 - ADAR P55265 VAR_026669 p.Arg1155Trp Disease - Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_035805 p.Glu806Val Unclassified - A breast cancer sample ADAR P55265 VAR_048725 p.Arg100Gly Polymorphism rs1466731 - ADAT1 Q9BUB4 VAR_032340 p.His167Asn Polymorphism rs3743598 - ADAT1 Q9BUB4 VAR_032341 p.Thr203Asn Polymorphism rs3743599 - ADAT1 Q9BUB4 VAR_055649 p.Thr242Pro Polymorphism rs3743600 - ADAT1 Q9BUB4 VAR_061098 p.Ile226Val Polymorphism rs56029288 - ADAT3 Q96EY9 VAR_035804 p.Arg332Cys Unclassified - A breast cancer sample ADCK2 Q7Z695 VAR_029992 p.Ser307Pro Polymorphism rs1140034 - ADCK2 Q7Z695 VAR_029993 p.Val418Met Polymorphism rs3748092 - ADCK2 Q7Z695 VAR_029994 p.Pro622Leu Polymorphism rs1046515 - ADCK2 Q7Z695 VAR_041418 p.Val418Leu Polymorphism - - ADCK2 Q7Z695 VAR_041419 p.Pro626Leu Polymorphism rs55922126 - ADCK2 Q7Z695 VAR_060990 p.Ser66Gly Polymorphism rs2968558 - ADCK3 Q8NI60 VAR_020319 p.His85Gln Polymorphism rs2297411 - ADCK3 Q8NI60 VAR_044402 p.Arg213Trp Disease - Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016] ADCK3 Q8NI60 VAR_044403 p.Gly272Asp Disease - Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016] ADCK3 Q8NI60 VAR_044404 p.Gly272Val Disease - Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016] ADCK3 Q8NI60 VAR_044405 p.Tyr514Cys Disease - Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016] ADCK3 Q8NI60 VAR_044406 p.Gly549Ser Disease - Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016] ADCK3 Q8NI60 VAR_044407 p.Glu551Lys Disease - Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016] ADCK3 Q8NI60 VAR_045576 p.Ile341Thr Polymorphism rs55798516 - ADCK4 Q96D53 VAR_029995 p.His174Arg Polymorphism rs3865452 - ADCK4 Q96D53 VAR_041420 p.Arg78Cys Polymorphism rs11538384 - ADCK4 Q96D53 VAR_041421 p.Thr318Met Polymorphism rs55899516 - ADCK4 Q96D53 VAR_041422 p.Thr352Arg Polymorphism rs36012476 - ADCK4 Q96D53 VAR_041423 p.Thr462Met Polymorphism rs56083906 - ADCK5 Q3MIX3 VAR_029996 p.Arg17Ser Polymorphism rs6599528 - ADC Q96A70 VAR_050611 p.Ala288Ser Polymorphism rs16835244 - ADCY10 Q96PN6 VAR_038476 p.Thr234Met Polymorphism rs16859886 - ADCY10 Q96PN6 VAR_038477 p.Ile697Val Polymorphism rs2071921 - ADCY1 Q08828 VAR_029186 p.Pro456Leu Polymorphism rs12721473 - ADCY1 Q08828 VAR_029187 p.Ala940Thr Polymorphism rs45444695 - ADCY1 Q08828 VAR_048246 p.Val984Met Polymorphism rs2293106 - ADCY2 Q08462 VAR_029012 p.Val147Leu Polymorphism rs13166360 - ADCY2 Q08462 VAR_048247 p.Val163Ile Polymorphism rs34043481 - ADCY3 O60266 VAR_048248 p.Ser107Pro Polymorphism rs11676272 - ADCY6 O43306 VAR_048249 p.Ala674Ser Polymorphism rs3730071 - ADCY8 P40145 VAR_029188 p.Ala80Thr Polymorphism rs2228949 - ADCY8 P40145 VAR_036328 p.Phe881Leu Unclassified - A colorectal cancer sample ADCY9 O60503 VAR_023750 p.Ile772Met Polymorphism rs2230739 - ADCYAP1 P18509 VAR_014597 p.Asp54Gly Polymorphism rs2856966 - ADD1 P35611 VAR_014184 p.Gly460Trp Polymorphism rs4961 - ADD1 P35611 VAR_014185 p.Ser586Cys Polymorphism rs4963 - ADD1 P35611 VAR_014863 p.Tyr270Asn Polymorphism rs4971 - ADD1 P35611 VAR_014864 p.Glu376Asp Polymorphism rs4972 - ADD1 P35611 VAR_014865 p.Asn510Ile Polymorphism rs4962 - ADD1 P35611 VAR_022108 p.Arg6Cys Polymorphism rs2295497 - ADD2 P35612 VAR_014866 p.Asp28Asn Polymorphism rs4986 - ADD2 P35612 VAR_014867 p.Glu335Asp Polymorphism rs4982 - ADD2 P35612 VAR_014868 p.Ser663Arg Polymorphism rs4985 - ADD2 P35612 VAR_025318 p.Thr439Ala Polymorphism rs17855969 - ADD2 P35612 VAR_048195 p.Ser98Cys Polymorphism rs4987 - ADGB Q8N7X0 VAR_025948 p.Ile310Thr Polymorphism rs9497606 - ADGB Q8N7X0 VAR_063158 p.Thr1637Ala Polymorphism rs1052445 - ADH1B P00325 VAR_000426 p.Arg48His Polymorphism rs1229984 - ADH1B P00325 VAR_000427 p.Arg370Cys Polymorphism rs2066702 - ADH1B P00325 VAR_019322 p.Asn57Lys Polymorphism rs1041969 - ADH1B P00325 VAR_019323 p.Thr60Ser Polymorphism rs6413413 - ADH1C P00326 VAR_000428 p.Arg272Gln Polymorphism rs1693482 - ADH1C P00326 VAR_000429 p.Ile350Val Polymorphism rs698 - ADH1C P00326 VAR_023992 p.Arg48His Polymorphism rs35385902 - ADH1C P00326 VAR_023993 p.Pro166Ser Polymorphism - - ADH1C P00326 VAR_023994 p.Pro352Thr Polymorphism rs35719513 - ADH4 P08319 VAR_023461 p.Ile309Val Polymorphism rs1126671 - ADH4 P08319 VAR_023462 p.Arg318His Polymorphism rs29001219 - ADH4 P08319 VAR_023463 p.Val374Ile Polymorphism rs1126673 - ADH5 P11766 VAR_025823 p.Leu163Ser Polymorphism rs28730623 - ADH5 P11766 VAR_025824 p.Val309Ile Polymorphism rs28730628 - ADH5 P11766 VAR_048199 p.Asp353Glu Polymorphism rs16996593 - ADH6 P28332 VAR_022655 p.Cys102Gly Polymorphism rs28720152 - ADH6 P28332 VAR_022656 p.Ile114Val Polymorphism rs28720153 - ADH6 P28332 VAR_048198 p.Thr151Pro Polymorphism rs34582580 - ADH7 P40394 VAR_024364 p.Gly92Ala Polymorphism rs1573496 - ADHFE1 Q8IWW8 VAR_039470 p.Asp242Val Unclassified - A breast cancer sample ADHFE1 Q8IWW8 VAR_054015 p.Cys449Arg Polymorphism rs1060242 - ADIPOQ Q15848 VAR_013273 p.Gly84Arg Unclassified - - ADIPOQ Q15848 VAR_013274 p.Arg112Cys Disease - Adiponectin deficiency (ADPND) [MIM:612556] ADIPOQ Q15848 VAR_013275 p.Val117Met Polymorphism - - ADIPOQ Q15848 VAR_013276 p.Ile164Thr Unclassified - - ADIPOQ Q15848 VAR_013277 p.Arg221Ser Polymorphism - - ADIPOQ Q15848 VAR_013278 p.His241Pro Polymorphism - - ADIPOQ Q15848 VAR_027395 p.Gly90Ser Unclassified - - ADIPOQ Q15848 VAR_027396 p.Tyr111His Polymorphism rs17366743 - ADIPOR2 Q86V24 VAR_048203 p.Gln39Arg Polymorphism rs12298275 - ADM P35318 VAR_014861 p.Ser50Arg Polymorphism rs5005 - ADM P35318 VAR_048205 p.Pro85Arg Polymorphism rs2228573 - ADO Q96SZ5 VAR_025333 p.Gly25Trp Polymorphism rs2236295 - ADO Q96SZ5 VAR_025334 p.Pro39Ala Polymorphism rs10995311 - ADO Q96SZ5 VAR_033691 p.Pro266Ser Polymorphism rs569705 - ADORA1 P30542 VAR_035754 p.Glu170Lys Unclassified - A colorectal cancer sample ADORA1 P30542 VAR_044138 p.Ala43Ser Polymorphism rs11547175 - ADORA1 P30542 VAR_044139 p.Ser50Pro Polymorphism rs11547174 - ADORA1 P30542 VAR_044140 p.Arg105His Polymorphism rs11547176 - ADORA1 P30542 VAR_044141 p.Pro261Gln Polymorphism rs17852405 - ADORA2A P29274 VAR_003451 p.Gly392Arg Polymorphism - - ADORA2A P29274 VAR_011835 p.Ala50Val Polymorphism rs4530 - ADORA2A P29274 VAR_011836 p.Arg300His Polymorphism rs4990 - ADORA3 P33765 VAR_035755 p.Ala105Thr Unclassified - A colorectal cancer sample ADORA3 P33765 VAR_049366 p.Ile248Leu Polymorphism rs35511654 - ADORA3 P33765 VAR_049367 p.Met266Lys Polymorphism rs2800889 - ADPGK Q9BRR6 VAR_060085 p.Lys184Arg Polymorphism rs8024644 - ADPRHL1 Q8NDY3 VAR_048890 p.Ala7Val Polymorphism rs9577273 - ADPRHL2 Q9NX46 VAR_030579 p.Glu209Lys Polymorphism rs2236387 - ADPRM Q3LIE5 VAR_032125 p.Leu92Arg Polymorphism rs34940296 - ADPRM Q3LIE5 VAR_032126 p.Glu337Gly Polymorphism rs406446 - ADRA1A P35348 VAR_019509 p.Cys347Arg Polymorphism rs1048101 - ADRA1A P35348 VAR_035756 p.Gly40Trp Unclassified - A breast cancer sample ADRA1A P35348 VAR_049370 p.Ile200Ser Polymorphism rs2229125 - ADRA1A P35348 VAR_049371 p.Lys414Arg Polymorphism rs3730247 - ADRA1A P35348 VAR_049372 p.Glu465Asp Polymorphism rs2229126 - ADRA1B P35368 VAR_019510 p.Val51Gly Polymorphism rs8192448 - ADRA2A P08913 VAR_014957 p.Asn251Lys Polymorphism rs1800035 - ADRA2A P08913 VAR_055908 p.Cys401Ser Polymorphism rs35658213 - ADRA2B P18089 VAR_025099 p.Gly211Ala Polymorphism rs9333568 - ADRA2B P18089 VAR_025100 p.Val379Gly Polymorphism - - ADRA2B P18089 VAR_033462 p.Val376Ile Polymorphism rs29000569 - ADRA2B P18089 VAR_033463 p.Val379Ile Polymorphism rs29000569 - ADRB1 P08588 VAR_009879 p.Ser49Gly Polymorphism rs1801252 - ADRB1 P08588 VAR_009880 p.Arg389Gly Polymorphism rs1801253 - ADRB1 P08588 VAR_018742 p.Arg389Leu Polymorphism - - ADRB1 P08588 VAR_055909 p.Ala26Val Polymorphism rs34844626 - ADRB1 P08588 VAR_055910 p.Ala29Thr Polymorphism rs35720093 - ADRB1 P08588 VAR_055911 p.Arg31Gln Polymorphism rs35230616 - ADRB1 P08588 VAR_055912 p.Arg399His Polymorphism rs36052953 - ADRB1 P08588 VAR_055913 p.His405Tyr Polymorphism rs35705839 - ADRB2 P07550 VAR_003452 p.Gly16Arg Polymorphism rs1042713 - ADRB2 P07550 VAR_003453 p.Glu27Gln Polymorphism rs1042714 - ADRB2 P07550 VAR_003454 p.Val34Met Polymorphism - - ADRB2 P07550 VAR_003455 p.Thr164Ile Polymorphism rs1800888 - ADRB2 P07550 VAR_009124 p.Ile159Leu Polymorphism - - ADRB2 P07550 VAR_009125 p.Ile159Phe Polymorphism - - ADRB2 P07550 VAR_009394 p.Lys375Arg Polymorphism - - ADRB2 P07550 VAR_025101 p.Ser220Cys Polymorphism rs3729943 - ADRB2 P07550 VAR_049373 p.Asn15Ser Polymorphism rs33973603 - ADRB3 P13945 VAR_003456 p.Trp64Arg Polymorphism rs4994 - ADRB3 P13945 VAR_014166 p.Thr265Met Polymorphism rs4995 - ADRB3 P13945 VAR_025102 p.Arg353Cys Polymorphism rs36031925 - ADRB3 P13945 VAR_029205 p.Glu249Lys Polymorphism rs28364012 - ADRBK1 P25098 VAR_040378 p.Ile184Thr Polymorphism rs55696045 - ADRBK1 P25098 VAR_040379 p.Arg578Gln Unclassified - A colorectal adenocarcinoma sample ADRBK2 P35626 VAR_028005 p.Val409Met Polymorphism rs2272859 - ADRBK2 P35626 VAR_040380 p.Arg50Ser Polymorphism rs55700971 - ADRBK2 P35626 VAR_040381 p.Asn60Ser Polymorphism rs55740593 - ADRBK2 P35626 VAR_040382 p.Arg104Lys Unclassified - A lung bronchoalveolar carcinoma sample ADSL P30566 VAR_000680 p.Ser438Pro Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_007972 p.Ile72Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_007973 p.Arg141Trp Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_007974 p.Arg190Gln Disease rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_007975 p.Lys246Glu Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_007976 p.Arg303Cys Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_007977 p.Ser395Arg Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_007978 p.Arg426His Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_016930 p.Ala2Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_016931 p.Met26Leu Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_016932 p.Thr450Ser Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017078 p.Ala3Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017079 p.Pro100Ala Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017080 p.Tyr114His Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017081 p.Arg194Cys Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017082 p.Asp268Asn Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017083 p.Leu311Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017084 p.Pro318Leu Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017085 p.Val364Met Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017086 p.Arg374Trp Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017087 p.Arg396Cys Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017088 p.Arg396His Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017089 p.Asp422Tyr Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017090 p.Leu423Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017091 p.Asp430Asn Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017092 p.Ser447Pro Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_017093 p.Arg452Pro Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] ADSL P30566 VAR_037883 p.Ser31Asn Polymorphism rs5757921 - ADSL P30566 VAR_037884 p.Lys147Met Polymorphism rs11089991 - ADSS P30520 VAR_051881 p.Leu179Phe Polymorphism rs12134870 - ADTRP Q96IZ2 VAR_024365 p.Val202Ile Polymorphism rs2076185 - AEBP1 Q8IUX7 VAR_043118 p.Pro273Thr Polymorphism rs2537188 - AEBP1 Q8IUX7 VAR_043119 p.Asp648Glu Polymorphism rs11770649 - AEBP1 Q8IUX7 VAR_043120 p.Pro1001Leu Polymorphism rs4724285 - AEBP1 Q8IUX7 VAR_043121 p.Lys1133Glu Polymorphism rs13928 - AEBP1 Q8IUX7 VAR_043122 p.Val1148Ile Polymorphism rs13898 - AEN Q8WTP8 VAR_039651 p.Pro15Leu Polymorphism rs3743477 - AEN Q8WTP8 VAR_039652 p.Ser88Cys Polymorphism rs8026929 - AEN Q8WTP8 VAR_039653 p.Asn140Asp Polymorphism rs8027765 - AES Q08117 VAR_011958 p.Ala168Glu Polymorphism rs1802578 - AFAP1L2 Q8N4X5 VAR_050505 p.Gly138Arg Polymorphism rs11196689 - AFAP1L2 Q8N4X5 VAR_050506 p.Ser366Arg Polymorphism rs7075067 - AFAP1L2 Q8N4X5 VAR_050507 p.Thr522Ser Polymorphism rs2781806 - AFAP1L2 Q8N4X5 VAR_054214 p.Glu726Lys Polymorphism rs11599051 - AFAP1 Q8N556 VAR_038578 p.Ser403Cys Polymorphism rs28406288 - AFAP1 Q8N556 VAR_038579 p.Val518Met Polymorphism rs41264705 - AFF1 P51825 VAR_020370 p.Pro209Ala Polymorphism rs3733378 - AFF1 P51825 VAR_036130 p.Gln1204Lys Unclassified - A breast cancer sample AFF2 P51816 VAR_028217 p.Leu1185Met Polymorphism rs12858959 - AFF3 P51826 VAR_030805 p.Ser358Asn Polymorphism rs4851223 - AFF3 P51826 VAR_030806 p.Asn494Ser Polymorphism rs1047265 - AFF4 Q9UHB7 VAR_053003 p.Thr136Pro Polymorphism rs34527550 - AFF4 Q9UHB7 VAR_064693 p.Ser757Thr Unclassified - - AFG3L2 Q9Y4W6 VAR_063544 p.Asn432Thr Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_063545 p.Glu691Lys Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_063546 p.Ala694Glu Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_063547 p.Arg702Gln Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064402 p.Thr654Ile Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064403 p.Met666Arg Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064404 p.Met666Thr Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064405 p.Met666Val Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064406 p.Gly671Glu Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064407 p.Gly671Arg Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064408 p.Glu700Lys Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] AFM P43652 VAR_048218 p.Thr404Ser Polymorphism rs2276444 - AFM P43652 VAR_061003 p.Arg395His Polymorphism rs41265665 - AFP P02771 VAR_012049 p.Ala570Gly Polymorphism rs7790 - AFP P02771 VAR_033928 p.Lys187Gln Polymorphism rs35765619 - AFTPH Q6ULP2 VAR_056728 p.Asp233Gly Polymorphism rs35986567 - AFTPH Q6ULP2 VAR_056729 p.Glu301Lys Polymorphism rs3770740 - AFTPH Q6ULP2 VAR_056730 p.Asn550Ser Polymorphism rs3770739 - AGAP11 Q8TF27 VAR_042518 p.Ile82Val Polymorphism rs2641563 - AGAP1 Q9UPQ3 VAR_019550 p.Glu829Lys Polymorphism rs15718 - AGAP1 Q9UPQ3 VAR_026446 p.Ser82Gly Unclassified - - AGAP1 Q9UPQ3 VAR_026447 p.Asp148Gly Polymorphism rs17855721 - AGAP1 Q9UPQ3 VAR_026448 p.Val671Ile Polymorphism rs2034648 - AGAP1 Q9UPQ3 VAR_026449 p.Arg798Gly Unclassified - - AGAP1 Q9UPQ3 VAR_026450 p.Pro854Thr Unclassified - - AGAP1 Q9UPQ3 VAR_048331 p.Pro522Leu Polymorphism rs17840725 - AGA P20933 VAR_005069 p.Gly60Asp Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005070 p.Ser72Pro Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005071 p.Ala101Val Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005072 p.Arg161Gln Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005073 p.Cys163Ser Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005074 p.Gly302Arg Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005075 p.Cys306Arg Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015427 p.Val12Leu Unclassified - - AGA P20933 VAR_015428 p.Gly100Glu Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015429 p.Phe135Ser Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015430 p.Gly252Glu Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015431 p.Gly252Arg Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015432 p.Thr257Ile Disease - Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_033533 p.Thr149Ser Polymorphism rs2228119 - AGA P20933 VAR_061026 p.Thr322Ile Polymorphism rs56849061 - AGAP2 Q99490 VAR_022046 p.Gly507Ser Polymorphism rs2301553 - AGAP2 Q99490 VAR_026438 p.Val455Ala Unclassified - A glioblastoma cell line AGAP2 Q99490 VAR_026439 p.Arg518Gly Unclassified - A sarcoma cell line AGAP2 Q99490 VAR_026440 p.Thr568Ile Unclassified - - AGAP2 Q99490 VAR_026441 p.Ala651Val Unclassified - A glioblastoma cell line AGAP2 Q99490 VAR_026442 p.Glu767Val Unclassified - A glioblastoma cell line AGAP2 Q99490 VAR_026443 p.Asn939Asp Unclassified - A glioblastoma cell line AGAP2 Q99490 VAR_026444 p.Val947Met Unclassified - A sarcoma cell line AGAP2 Q99490 VAR_026445 p.Ser1022Pro Unclassified - A glioblastoma cell line AGAP2 Q99490 VAR_036183 p.Thr339Ala Unclassified - A breast cancer sample AGAP2 Q99490 VAR_036184 p.Asp816Tyr Unclassified - A breast cancer sample AGAP2 Q99490 VAR_055532 p.Gly1124Val Polymorphism rs238521 - AGAP4 Q96P64 VAR_031804 p.Lys661Glu Polymorphism rs15718 - AGAP8 Q5SRD3 VAR_064767 p.Gln567His Polymorphism - - AGBL1 Q96MI9 VAR_048604 p.Pro417Leu Polymorphism rs8029810 - AGBL1 Q96MI9 VAR_048605 p.Ser435Pro Polymorphism rs11857527 - AGBL1 Q96MI9 VAR_059195 p.Gln1010Arg Polymorphism rs8028043 - AGBL2 Q5U5Z8 VAR_031572 p.Arg349His Polymorphism rs7941404 - AGBL2 Q5U5Z8 VAR_046637 p.Ile90Arg Polymorphism rs12795414 - AGBL2 Q5U5Z8 VAR_046638 p.Thr333Pro Polymorphism rs35898124 - AGBL2 Q5U5Z8 VAR_046639 p.Asp368Gly Polymorphism rs1870545 - AGBL2 Q5U5Z8 VAR_046640 p.Met671Ile Polymorphism rs12286721 - AGBL3 Q8NEM8 VAR_031573 p.Phe45Tyr Polymorphism rs2348049 - AGBL3 Q8NEM8 VAR_031574 p.Glu122Gln Polymorphism rs4236655 - AGBL3 Q8NEM8 VAR_031575 p.Thr360Ile Polymorphism rs17804854 - AGBL4 Q5VU57 VAR_061078 p.Val443Met Polymorphism rs60977321 - AGBL5 Q8NDL9 VAR_035231 p.Gly649Asp Polymorphism rs35804461 - AGER Q15109 VAR_011338 p.Gln100Arg Polymorphism - - AGER Q15109 VAR_024500 p.Gly82Ser Polymorphism rs2070600 - AGFG2 O95081 VAR_050566 p.Thr365Asn Polymorphism rs34731997 - AGGF1 Q8N302 VAR_017901 p.Glu133Lys Disease rs34203073 Klippel-Trenaunay syndrome (KTS) [MIM:149000] AGGF1 Q8N302 VAR_017902 p.Pro698Thr Polymorphism rs34400049 - AGGF1 Q8N302 VAR_037446 p.Thr180Ala Polymorphism rs9715897 - AGGF1 Q8N302 VAR_037447 p.Leu471Pro Polymorphism rs17856835 - AGK Q53H12 VAR_027848 p.Val3Met Polymorphism rs10262855 - AGL P35573 VAR_009230 p.Gly1115Arg Polymorphism rs2230307 - AGL P35573 VAR_009231 p.Gly1448Arg Disease - Glycogen storage disease type 3 (GSD3) [MIM:232400] AGL P35573 VAR_009621 p.Arg387Gln Polymorphism rs17121464 - AGL P35573 VAR_009622 p.Glu1343Lys Polymorphism - - AGL P35573 VAR_020389 p.Pro1067Ser Polymorphism rs3753494 - AGL P35573 VAR_028051 p.Gln229Arg Polymorphism rs17121403 - AGL P35573 VAR_028052 p.Ala701Ser Polymorphism rs3736297 - AGL P35573 VAR_028053 p.Ile1144Asn Polymorphism rs2230308 - AGL P35573 VAR_028054 p.Arg1253His Polymorphism rs12043139 - AGL P35573 VAR_028055 p.Arg1487Gly Polymorphism rs12118058 - AGL P35573 VAR_032084 p.Thr38Ala Polymorphism rs35278779 - AGL P35573 VAR_032085 p.Ser962Cys Polymorphism rs34714252 - AGL P35573 VAR_051010 p.Ala1207Thr Polymorphism rs11807956 - AGMAT Q9BSE5 VAR_023485 p.Gly105Arg Polymorphism rs6429757 - AGMAT Q9BSE5 VAR_048332 p.Arg140Gln Polymorphism rs11580170 - AGMO Q6ZNB7 VAR_062201 p.Phe279Leu Polymorphism rs58564185 - AGMO Q6ZNB7 VAR_062202 p.Ser280Tyr Polymorphism rs59160822 - AGPAT1 Q99943 VAR_050593 p.Pro30Ser Polymorphism rs11964847 - AGPAT2 O15120 VAR_017325 p.Ala239Val Disease - Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594] AGPAT2 O15120 VAR_017327 p.Leu228Pro Disease - Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594] AGPAT2 O15120 VAR_017328 p.Gly136Arg Disease - Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594] AGPAT5 Q9NUQ2 VAR_022696 p.Tyr77Cys Polymorphism rs17077958 - AGPS O00116 VAR_005002 p.Arg419His Disease - Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121] AGPS O00116 VAR_025895 p.Thr309Ile Disease - Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121] AGPS O00116 VAR_025896 p.Leu469Pro Disease - Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121] AGRN O00468 VAR_048966 p.Val1666Ile Polymorphism rs17160775 - AGRP O00253 VAR_015385 p.Ala67Thr Polymorphism rs5030980 - AGT P01019 VAR_007093 p.Thr207Met Polymorphism rs4762 - AGT P01019 VAR_007094 p.Thr242Ile Unclassified - - AGT P01019 VAR_007095 p.Leu244Arg Polymorphism rs5041 - AGT P01019 VAR_007096 p.Met268Thr Polymorphism rs699 - AGT P01019 VAR_007097 p.Tyr281Cys Polymorphism rs56073403 - AGT P01019 VAR_014573 p.Leu392Met Polymorphism rs1805090 - AGT P01019 VAR_022933 p.Leu43Phe Polymorphism rs41271499 - AGT P01019 VAR_029166 p.Glu98Lys Polymorphism rs11568032 - AGT P01019 VAR_029167 p.Met268Ile Polymorphism rs11568053 - AGT P01019 VAR_035431 p.Thr137Met Polymorphism rs34829218 - AGT P01019 VAR_035432 p.Pro335Ser Polymorphism rs17856352 - AGT P01019 VAR_035433 p.Arg375Gln Disease - Renal tubular dysgenesis (RTD) [MIM:267430] AGT P01019 VAR_051939 p.Gly114Cys Polymorphism rs2229389 - AGTPBP1 Q9UPW5 VAR_036884 p.Glu423Lys Unclassified - A colorectal cancer sample AGTR1 P30556 VAR_011846 p.Leu48Val Polymorphism rs2011425 - AGTR1 P30556 VAR_011847 p.Cys289Trp Polymorphism rs1064533 - AGTR1 P30556 VAR_011848 p.Thr336Pro Polymorphism rs1801021 - AGTR1 P30556 VAR_029206 p.Ala163Thr Polymorphism rs12721226 - AGTR1 P30556 VAR_029207 p.Ala244Ser Polymorphism rs12721225 - AGTR1 P30556 VAR_035086 p.Thr282Met Disease - Renal tubular dysgenesis (RTD) [MIM:267430] AGTR2 P50052 VAR_011849 p.Arg248Lys Polymorphism rs5191 - AGTR2 P50052 VAR_011850 p.Cys268Trp Polymorphism rs1042860 - AGTR2 P50052 VAR_049374 p.Tyr231His Polymorphism rs3729977 - AGTRAP Q6RW13 VAR_023075 p.Ala143Val Polymorphism rs17875960 - AGXT2L1 Q8TBG4 VAR_032342 p.Ser185Pro Polymorphism rs1377210 - AGXT2L2 Q8IUZ5 VAR_048233 p.His126Arg Polymorphism rs7707147 - AGXT2 Q9BYV1 VAR_022140 p.Val140Ile Polymorphism rs37369 - AGXT2 Q9BYV1 VAR_022141 p.Thr212Ile Polymorphism rs180749 - AGXT2 Q9BYV1 VAR_023483 p.Ser102Asn Polymorphism rs37370 - AGXT2 Q9BYV1 VAR_029513 p.Val498Leu Polymorphism rs16899974 - AGXT2 Q9BYV1 VAR_048231 p.Gly132Arg Polymorphism rs16870794 - AGXT2 Q9BYV1 VAR_048232 p.Pro492Arg Polymorphism rs17245714 - AGXT2 Q9BYV1 VAR_061006 p.Ser102Ile Polymorphism rs37370 - AGXT2 Q9BYV1 VAR_061007 p.Ser102Thr Polymorphism rs37370 - AGXT P21549 VAR_000587 p.Pro11Leu Polymorphism rs34116584 - AGXT P21549 VAR_000588 p.Gly41Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_000589 p.Phe152Ile Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_000590 p.Gly170Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_000591 p.Ser187Phe Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_000592 p.Ser205Pro Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_000593 p.Ile340Met Polymorphism rs4426527 - AGXT P21549 VAR_008878 p.Gly82Glu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_008879 p.Arg233Cys Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_008880 p.Arg233His Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_008881 p.Ile244Thr Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_010969 p.Gly41Val Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_010971 p.Gly116Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_010972 p.Gly156Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_010973 p.Asp183Asn Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_048236 p.Asn22Ser Polymorphism rs34885252 - AGXT P21549 VAR_048237 p.Ala295Thr Polymorphism rs13408961 - AGXT P21549 VAR_060547 p.Thr9Asn Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060548 p.Gly82Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060549 p.Trp108Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060550 p.Ala112Asp Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060552 p.Leu153Val Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060553 p.Ser158Leu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060554 p.Gly161Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060555 p.Cys173Tyr Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060556 p.Gly190Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060557 p.Met195Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060558 p.Asp201Glu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060559 p.Ser218Leu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060560 p.Arg233Leu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060561 p.Asp243His Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060562 p.Cys253Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060563 p.Ile279Met Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060564 p.Ile279Thr Polymorphism - - AGXT P21549 VAR_060565 p.Ala280Val Polymorphism - - AGXT P21549 VAR_060566 p.Ser287Thr Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060567 p.Arg289Cys Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060569 p.Leu298Pro Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060570 p.Val326Ile Polymorphism - - AGXT P21549 VAR_060571 p.Val336Asp Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AGXT P21549 VAR_060572 p.Gly350Asp Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900] AHCTF1 Q8WYP5 VAR_027037 p.Asn874Ser Polymorphism rs2642990 - AHCTF1 Q8WYP5 VAR_027038 p.Leu2185Val Polymorphism rs12410563 - AHCY P23526 VAR_006934 p.Asp86Asn Polymorphism - - AHCY P23526 VAR_052286 p.Arg38Trp Polymorphism rs13043752 - AHCY P23526 VAR_058588 p.Arg49Cys Disease - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_058589 p.Asp86Gly Disease - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_058590 p.Ala89Val Disease - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_058591 p.Tyr143Cys Disease - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHDC1 Q5TGY3 VAR_037765 p.Ala935Thr Polymorphism rs4908364 - AHI1 Q8N157 VAR_023391 p.Val443Asp Disease - Joubert syndrome type 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_037892 p.Ile49Asn Polymorphism - - AHI1 Q8N157 VAR_037893 p.Arg548His Polymorphism rs35433555 - AHI1 Q8N157 VAR_037894 p.Arg723Gln Disease - Joubert syndrome type 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_037895 p.Ser761Leu Polymorphism - - AHI1 Q8N157 VAR_037896 p.Arg830Trp Polymorphism rs13312995 - AHI1 Q8N157 VAR_037897 p.Thr856Ser Polymorphism - - AHI1 Q8N157 VAR_037898 p.Tyr933Cys Polymorphism rs41288013 - AHI1 Q8N157 VAR_037899 p.Gln1018Pro Polymorphism rs6940875 - AHI1 Q8N157 VAR_037900 p.Ser1123Phe Polymorphism - - AHI1 Q8N157 VAR_037901 p.Pro1140Ser Polymorphism - - AHNAK2 Q8IVF2 VAR_039069 p.Val1266Met Polymorphism rs11850930 - AHNAK2 Q8IVF2 VAR_039070 p.Leu1470Val Polymorphism rs12890949 - AHNAK2 Q8IVF2 VAR_039071 p.Ser2115Arg Polymorphism rs2582514 - AHNAK2 Q8IVF2 VAR_039072 p.Asp2429Glu Polymorphism rs11160826 - AHNAK2 Q8IVF2 VAR_039073 p.Leu2430Val Polymorphism rs2819426 - AHNAK2 Q8IVF2 VAR_039074 p.Val2616Ala Polymorphism rs4264326 - AHNAK2 Q8IVF2 VAR_039075 p.Leu5028Met Polymorphism rs9672139 - AHNAK2 Q8IVF2 VAR_039076 p.Gly5564Arg Polymorphism rs2819420 - AHNAK2 Q8IVF2 VAR_050635 p.Thr525Ala Polymorphism rs2278607 - AHNAK2 Q8IVF2 VAR_050636 p.Met2107Val Polymorphism rs11846918 - AHNAK2 Q8IVF2 VAR_050637 p.Lys2410Arg Polymorphism rs11845746 - AHNAK2 Q8IVF2 VAR_050638 p.Val3796Leu Polymorphism rs12890949 - AHNAK2 Q8IVF2 VAR_050639 p.Met3961Val Polymorphism rs10141053 - AHNAK2 Q8IVF2 VAR_050640 p.Ile4071Met Polymorphism rs2582511 - AHNAK2 Q8IVF2 VAR_050641 p.Phe4138Leu Polymorphism rs2582505 - AHNAK2 Q8IVF2 VAR_050642 p.Lys4232Asn Polymorphism rs2819423 - AHNAK2 Q8IVF2 VAR_050643 p.Val4278Ala Polymorphism rs2819422 - AHNAK2 Q8IVF2 VAR_050644 p.Met4536Leu Polymorphism rs9672139 - AHNAK2 Q8IVF2 VAR_050645 p.Thr4664Ala Polymorphism rs4465542 - AHNAK2 Q8IVF2 VAR_050646 p.Gly5072Arg Polymorphism rs2819420 - AHNAK2 Q8IVF2 VAR_050647 p.Tyr5184Asp Polymorphism rs2819419 - AHNAK2 Q8IVF2 VAR_050648 p.Pro5397Ala Polymorphism rs3742935 - AHNAK2 Q8IVF2 VAR_050649 p.Thr5732Met Polymorphism rs748358 - AHNAK2 Q8IVF2 VAR_059560 p.Glu1856Asp Polymorphism rs2819435 - AHNAK2 Q8IVF2 VAR_059561 p.Leu2146Val Polymorphism rs12890949 - AHNAK2 Q8IVF2 VAR_059562 p.Glu2503Ala Polymorphism rs2819429 - AHNAK2 Q8IVF2 VAR_059563 p.Arg2862Ser Polymorphism rs2582514 - AHNAK2 Q8IVF2 VAR_059564 p.Asp3176Glu Polymorphism rs11160826 - AHNAK2 Q8IVF2 VAR_059565 p.Leu3177Val Polymorphism rs2819426 - AHNAK2 Q8IVF2 VAR_059566 p.Pro3336Leu Polymorphism rs10438247 - AHNAK2 Q8IVF2 VAR_059567 p.Val3363Ala Polymorphism rs4264326 - AHNAK2 Q8IVF2 VAR_059568 p.Asp3793Asn Polymorphism rs11160825 - AHNAK2 Q8IVF2 VAR_059569 p.Met3869Val Polymorphism rs10438246 - AHNAK2 Q8IVF2 VAR_059570 p.Lys3902Asn Polymorphism rs2819423 - AHNAK2 Q8IVF2 VAR_059571 p.Ala4085Val Polymorphism rs2013462 - AHNAK2 Q8IVF2 VAR_059572 p.Asp4198Asn Polymorphism rs11848082 - AHNAK2 Q8IVF2 VAR_059573 p.Leu4326Pro Polymorphism rs2819421 - AHNAK2 Q8IVF2 VAR_059574 p.Pro4478Leu Polymorphism rs2582513 - AHNAK2 Q8IVF2 VAR_061548 p.Met1298Ile Polymorphism rs2819440 - AHNAK2 Q8IVF2 VAR_061549 p.Gly3654Glu Polymorphism rs28380382 - AHNAK2 Q8IVF2 VAR_061550 p.Gly5139Glu Polymorphism rs61421370 - AHNAK Q09666 VAR_039058 p.Gly962Val Polymorphism rs664761 - AHNAK Q09666 VAR_039059 p.Ala2114Thr Polymorphism rs1298288 - AHNAK Q09666 VAR_039060 p.Pro2439Leu Polymorphism rs11824660 - AHNAK Q09666 VAR_039061 p.Gln3003Lys Polymorphism rs566144 - AHNAK Q09666 VAR_039062 p.Val3190Ile Polymorphism rs11231129 - AHNAK Q09666 VAR_039063 p.Ser3724Pro Polymorphism rs11231128 - AHNAK Q09666 VAR_039064 p.Gly4561Asp Polymorphism rs12795508 - AHNAK Q09666 VAR_039065 p.Met4611Val Polymorphism rs12801302 - AHNAK Q09666 VAR_039066 p.Ile4613Val Polymorphism rs12801153 - AHNAK Q09666 VAR_039067 p.Asp4631Gly Polymorphism rs12801123 - AHNAK Q09666 VAR_039068 p.Thr5415Ala Polymorphism rs11231126 - AHNAK Q09666 VAR_061551 p.Lys2247Thr Polymorphism rs61524789 - AHNAK Q09666 VAR_061552 p.Asp4304Gly Polymorphism rs11828907 - AHR P35869 VAR_009281 p.Arg554Lys Polymorphism rs2066853 - AHR P35869 VAR_009282 p.Val570Ile Polymorphism rs4986826 - AHR P35869 VAR_015516 p.Pro517Ser Polymorphism - - AHR P35869 VAR_015517 p.Met786Val Polymorphism - - AHRR A9YTQ3 VAR_043308 p.Leu114Pro Polymorphism rs35008248 - AHRR A9YTQ3 VAR_043309 p.Pro189Ala Polymorphism rs2292596 - AHRR A9YTQ3 VAR_043310 p.Gly373Val Polymorphism rs2303738 - AHRR A9YTQ3 VAR_043311 p.Asp627His Polymorphism rs34453673 - AHSA2 Q719I0 VAR_038256 p.Met248Thr Unclassified - A breast cancer sample AHSG P02765 VAR_002388 p.Thr248Met Polymorphism rs4917 - AHSG P02765 VAR_002389 p.Thr256Ser Polymorphism rs4918 - AHSG P02765 VAR_012474 p.Asp276Asn Polymorphism - - AHSG P02765 VAR_012475 p.Arg317Cys Polymorphism rs35457250 - AHSG P02765 VAR_055802 p.Val142Leu Polymorphism rs7633550 - AHSP Q9NZD4 VAR_050650 p.Pro100Thr Polymorphism rs36018996 - AICDA Q9GZX7 VAR_013774 p.Arg24Trp Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013775 p.Trp80Arg Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013776 p.Leu106Pro Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013777 p.Met139Val Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013778 p.Phe151Ser Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_014091 p.Arg25Cys Polymorphism - - AIF1 P55008 VAR_048665 p.Gly14Arg Polymorphism rs2736182 - AIFM2 Q9BRQ8 VAR_050651 p.Met135Thr Polymorphism rs10999147 - AIFM2 Q9BRQ8 VAR_050652 p.Asp288Asn Polymorphism rs2271694 - AIFM3 Q96NN9 VAR_061553 p.Ser508Thr Polymorphism rs61356271 - AIG1 Q9NVV5 VAR_057502 p.Gln151Glu Polymorphism rs1053193 - AIM1L Q8N1P7 VAR_048835 p.Ser249Asn Polymorphism rs10751735 - AIM1 Q9Y4K1 VAR_055687 p.Gly267Asp Polymorphism rs11968933 - AIM1 Q9Y4K1 VAR_055688 p.Gln293Pro Polymorphism rs1159148 - AIM1 Q9Y4K1 VAR_055689 p.Cys491Arg Polymorphism rs3747787 - AIM1 Q9Y4K1 VAR_055690 p.Leu1096Val Polymorphism rs1350902 - AIM1 Q9Y4K1 VAR_055691 p.Glu1196Ala Polymorphism rs783396 - AIM1 Q9Y4K1 VAR_055692 p.Cys1395Tyr Polymorphism rs2297970 - AIM1 Q9Y4K1 VAR_055693 p.Thr1445Ser Polymorphism rs1676015 - AIM2 O14862 VAR_022022 p.Glu32Lys Polymorphism rs2276405 - AIM2 O14862 VAR_043379 p.Cys304Tyr Polymorphism - - AIMP1 Q12904 VAR_025212 p.Pro79Ala Polymorphism rs1134648 - AIMP1 Q12904 VAR_029156 p.Thr104Ala Polymorphism rs2230254 - AIMP1 Q12904 VAR_050124 p.Thr117Ala Polymorphism rs2230255 - AIMP2 Q13155 VAR_025521 p.Ala129Gly Polymorphism rs17855441 - AIMP2 Q13155 VAR_050125 p.Leu166Ile Polymorphism rs34525431 - AIMP2 Q13155 VAR_058392 p.Ile92Val Unclassified - A lung cancer cell line AIMP2 Q13155 VAR_058394 p.Gly209Ser Unclassified - A lung cancer cell line AIPL1 Q9NZN9 VAR_010139 p.Cys239Arg Disease - Leber congenital amaurosis type 4 (LCA4) [MIM:604393] AIPL1 Q9NZN9 VAR_010140 p.Asp90His Polymorphism rs12449580 - AIPL1 Q9NZN9 VAR_050626 p.Val33Ala Polymorphism rs16955859 - AIPL1 Q9NZN9 VAR_050627 p.Tyr134Phe Polymorphism rs16955851 - AIP O00170 VAR_043908 p.Arg16His Polymorphism - - AIP O00170 VAR_043909 p.Gln228Lys Polymorphism rs641081 - AIP O00170 VAR_043910 p.Lys241Glu Unclassified - - AIP O00170 VAR_043912 p.Arg271Trp Unclassified - - AIP O00170 VAR_043913 p.Arg304Gln Unclassified - - AIP O00170 VAR_061545 p.Gln307Arg Polymorphism rs4930199 - AIRE O43918 VAR_005004 p.Leu28Pro Disease rs179363878 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_005005 p.Lys83Glu Disease - Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_005006 p.Ser278Arg Polymorphism rs1800520 - AIRE O43918 VAR_013713 p.Arg15Leu Disease rs179363876 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013714 p.Thr16Met Disease rs179363877 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013715 p.Leu29Pro Disease rs179363879 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013716 p.Trp78Arg Disease rs179363880 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013717 p.Val80Leu Disease rs179363881 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013718 p.Tyr85Cys Disease rs179363882 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013719 p.Tyr90Cys Disease rs179363883 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013720 p.Leu93Arg Disease rs179363884 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013721 p.Val301Met Disease - Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013722 p.Gly305Ser Polymorphism - - AIRE O43918 VAR_013723 p.Cys311Tyr Disease - Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_013724 p.Pro326Gln Disease rs179363885 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_014422 p.Gly228Trp Disease - Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_026480 p.Arg15Cys Disease rs179363875 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_026481 p.Ala21Val Disease rs179363886 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_026483 p.Phe77Ser Disease rs179363887 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_026484 p.Pro252Leu Disease rs34397615 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_026485 p.Pro326Leu Disease rs179363888 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AIRE O43918 VAR_026486 p.Pro539Leu Disease rs179363889 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] AJAP1 Q9UKB5 VAR_031821 p.Gly263Arg Polymorphism rs242056 - AK1 P00568 VAR_004021 p.Arg128Trp Disease rs28930974 Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK1 P00568 VAR_034046 p.Glu123Gln Polymorphism rs8192462 - AK1 P00568 VAR_055337 p.Gly40Arg Disease - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK1 P00568 VAR_055338 p.Gly64Arg Disease - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK1 P00568 VAR_055340 p.Tyr164Cys Disease - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK2 P54819 VAR_050032 p.Ala209Thr Polymorphism rs12116440 - AK2 P54819 VAR_054630 p.Arg103Trp Disease - Reticular dysgenesis (RDYS) [MIM:267500] AK2 P54819 VAR_054631 p.Asp165Gly Disease - Reticular dysgenesis (RDYS) [MIM:267500] AK5 Q9Y6K8 VAR_059435 p.Arg465Gln Polymorphism rs2803140 - AK7 Q96M32 VAR_017059 p.Arg102Gln Polymorphism rs2275554 - AK7 Q96M32 VAR_057950 p.Asn389Lys Polymorphism rs2369679 - AK8 Q96MA6 VAR_030873 p.Ile5Thr Polymorphism rs2231400 - AK8 Q96MA6 VAR_030874 p.Asp130Gly Polymorphism rs17407084 - AKAP10 O43572 VAR_024607 p.Arg249His Polymorphism rs2108978 - AKAP10 O43572 VAR_024608 p.Ile646Val Polymorphism rs203462 - AKAP11 Q9UKA4 VAR_020131 p.Ser721Cys Polymorphism rs2236364 - AKAP11 Q9UKA4 VAR_048207 p.His1070Arg Polymorphism rs17063163 - AKAP11 Q9UKA4 VAR_048208 p.Leu1410Phe Polymorphism rs17063167 - AKAP12 Q02952 VAR_035115 p.Lys117Glu Polymorphism rs10872670 - AKAP12 Q02952 VAR_035116 p.Lys216Gln Polymorphism rs3734799 - AKAP12 Q02952 VAR_035117 p.Glu920Gly Polymorphism rs13212161 - AKAP12 Q02952 VAR_035118 p.Val1096Ile Polymorphism rs3734797 - AKAP12 Q02952 VAR_035119 p.Arg1296Leu Polymorphism rs9478198 - AKAP12 Q02952 VAR_035120 p.Glu1355Lys Polymorphism rs12201388 - AKAP12 Q02952 VAR_035121 p.Glu1600Asp Polymorphism rs3823310 - AKAP12 Q02952 VAR_035122 p.Glu1689Asp Polymorphism rs3734795 - AKAP12 Q02952 VAR_035780 p.Glu240Lys Unclassified - A colorectal cancer sample AKAP12 Q02952 VAR_056731 p.Ala987Ser Polymorphism rs1042069 - AKAP13 Q12802 VAR_030925 p.Met452Thr Polymorphism rs2061821 - AKAP13 Q12802 VAR_030926 p.Trp494Arg Polymorphism rs2061822 - AKAP13 Q12802 VAR_030927 p.Arg574Cys Polymorphism rs2061824 - AKAP13 Q12802 VAR_030928 p.Gly624Val Polymorphism rs745191 - AKAP13 Q12802 VAR_030929 p.Glu689Lys Polymorphism rs7177107 - AKAP13 Q12802 VAR_030930 p.Val845Ala Polymorphism rs4075256 - AKAP13 Q12802 VAR_030931 p.Val897Met Polymorphism rs4075254 - AKAP13 Q12802 VAR_030932 p.Pro1062Ala Polymorphism rs4843074 - AKAP13 Q12802 VAR_030933 p.Asp1086Asn Polymorphism rs4843075 - AKAP13 Q12802 VAR_030934 p.Met1216Thr Polymorphism rs7162168 - AKAP13 Q12802 VAR_030935 p.Gly2457Ser Polymorphism rs2241268 - AKAP13 Q12802 VAR_030936 p.Ala2801Thr Polymorphism rs2614668 - AKAP13 Q12802 VAR_051986 p.Lys526Gln Polymorphism rs34434221 - AKAP13 Q12802 VAR_051987 p.Ser1525Gly Polymorphism rs35079107 - AKAP17A Q02040 VAR_055353 p.Pro194Ser Polymorphism rs17852504 - AKAP1 Q92667 VAR_024512 p.Val60Met Polymorphism rs2230770 - AKAP1 Q92667 VAR_049676 p.Ala18Val Polymorphism rs17761023 - AKAP1 Q92667 VAR_049677 p.Cys102Tyr Polymorphism rs2230771 - AKAP1 Q92667 VAR_049678 p.Arg124Cys Polymorphism rs17833723 - AKAP2 Q9Y2D5 VAR_024248 p.Leu561Ser Polymorphism rs914358 - AKAP3 O75969 VAR_036428 p.Arg831Cys Unclassified - A colorectal cancer sample AKAP3 O75969 VAR_055488 p.Gly118Glu Polymorphism rs2072355 - AKAP3 O75969 VAR_055489 p.Ile500Thr Polymorphism rs12366671 - AKAP3 O75969 VAR_055490 p.Ile661Thr Polymorphism rs1990313 - AKAP3 O75969 VAR_055491 p.Ser700Phe Polymorphism rs2041291 - AKAP3 O75969 VAR_055492 p.Ser725Leu Polymorphism rs2072357 - AKAP3 O75969 VAR_059112 p.Ser700Pro Polymorphism rs2041290 - AKAP3 O75969 VAR_060730 p.Thr464Ser Polymorphism rs11063266 - AKAP3 O75969 VAR_061000 p.Glu525Lys Polymorphism rs1990312 - AKAP4 Q5JQC9 VAR_027266 p.Ala673Gly Polymorphism rs12012704 - AKAP4 Q5JQC9 VAR_048206 p.His233Arg Polymorphism rs17174078 - AKAP5 P24588 VAR_056732 p.Pro100Leu Polymorphism rs2230491 - AKAP5 P24588 VAR_056733 p.Glu314Lys Polymorphism rs34433837 - AKAP5 P24588 VAR_060735 p.Thr203Ile Polymorphism rs1256149 - AKAP6 Q13023 VAR_028171 p.Ala337Val Polymorphism rs3742926 - AKAP6 Q13023 VAR_028172 p.Asn408Ser Polymorphism rs17099240 - AKAP6 Q13023 VAR_028173 p.Ala1492Val Polymorphism rs11845640 - AKAP6 Q13023 VAR_028174 p.Asn2035Asp Polymorphism rs1051695 - AKAP6 Q13023 VAR_028175 p.Phe2171Tyr Polymorphism rs4647899 - AKAP6 Q13023 VAR_028176 p.Asp2209His Polymorphism rs4402458 - AKAP6 Q13023 VAR_035781 p.Lys910Met Unclassified - A breast cancer sample AKAP6 Q13023 VAR_035782 p.Met1192Ile Unclassified - A breast cancer sample AKAP6 Q13023 VAR_035783 p.Glu1702Gln Unclassified - A breast cancer sample AKAP6 Q13023 VAR_035784 p.Pro1839Thr Unclassified - A colorectal cancer sample AKAP6 Q13023 VAR_050653 p.Asn558Asp Polymorphism rs35210906 - AKAP6 Q13023 VAR_050654 p.Glu892Lys Polymorphism rs34572259 - AKAP6 Q13023 VAR_050655 p.Thr1516Ala Polymorphism rs17099587 - AKAP6 Q13023 VAR_050656 p.Val1522Ile Polymorphism rs34711402 - AKAP6 Q13023 VAR_050657 p.Glu2267Asp Polymorphism rs35977369 - AKAP7 Q9P0M2 VAR_024246 p.Glu26Lys Polymorphism rs7771473 - AKAP7 Q9P0M2 VAR_024247 p.Ser215Asn Polymorphism rs1190788 - AKAP8 O43823 VAR_036534 p.Gln664His Unclassified - A breast cancer sample AKAP9 Q99996 VAR_024249 p.Met475Ile Polymorphism rs6964587 - AKAP9 Q99996 VAR_030162 p.Asn2804Ser Polymorphism rs6960867 - AKAP9 Q99996 VAR_030163 p.Pro2983Ser Polymorphism rs1063242 - AKAP9 Q99996 VAR_035785 p.Met2421Ile Unclassified - A colorectal cancer sample AKAP9 Q99996 VAR_035786 p.Glu3301Gln Unclassified - A breast cancer sample AKAP9 Q99996 VAR_043489 p.Ser1582Leu Disease - Long QT syndrome type 11 (LQT11) [MIM:611820] AKAP9 Q99996 VAR_043490 p.Lys2496Arg Polymorphism rs35759833 - AKAP9 Q99996 VAR_043491 p.Gln3448Arg Polymorphism rs34956633 - AKAP9 Q99996 VAR_043492 p.Met3618Val Polymorphism rs34327395 - AKIP1 Q9NQ31 VAR_021565 p.Arg23Lys Polymorphism rs1133833 - AKIP1 Q9NQ31 VAR_050688 p.Ile132Thr Polymorphism rs35131475 - AKNAD1 Q5T1N1 VAR_044198 p.Ser61Asn Polymorphism rs1277207 - AKNAD1 Q5T1N1 VAR_044199 p.Ala104Val Polymorphism rs17621411 - AKNAD1 Q5T1N1 VAR_044200 p.Glu167Gly Polymorphism rs17852793 - AKNAD1 Q5T1N1 VAR_044201 p.His255Tyr Polymorphism rs9440631 - AKNAD1 Q5T1N1 VAR_044202 p.Leu352Val Polymorphism rs11580913 - AKNAD1 Q5T1N1 VAR_044203 p.Asn616Lys Polymorphism rs7551421 - AKNAD1 Q5T1N1 VAR_044204 p.Cys654Tyr Polymorphism rs7522157 - AKNAD1 Q5T1N1 VAR_061565 p.Gly582Val Polymorphism rs12060255 - AKNA Q7Z591 VAR_032586 p.Pro624Leu Polymorphism rs3748176 - AKNA Q7Z591 VAR_032587 p.Gln1097Arg Polymorphism rs1265891 - AKNA Q7Z591 VAR_032588 p.Arg1119Gln Polymorphism rs3748178 - AKNA Q7Z591 VAR_032589 p.Ser1303Pro Polymorphism rs2250242 - AKNA Q7Z591 VAR_032590 p.Tyr1327Cys Polymorphism rs2787344 - AKR1A1 P14550 VAR_048212 p.Asn52Ser Polymorphism rs2229540 - AKR1A1 P14550 VAR_058909 p.Glu55Asp Polymorphism rs6690497 - AKR1B10 O60218 VAR_013287 p.Asn313Asp Polymorphism rs4728329 - AKR1B10 O60218 VAR_020077 p.Pro87Ser Polymorphism rs2303312 - AKR1B10 O60218 VAR_020078 p.Met286Thr Polymorphism rs3735042 - AKR1B1 P15121 VAR_014743 p.Ile15Phe Polymorphism rs5054 - AKR1B1 P15121 VAR_014744 p.His42Leu Polymorphism rs5056 - AKR1B1 P15121 VAR_014745 p.Leu73Val Polymorphism rs5057 - AKR1B1 P15121 VAR_014746 p.Gly204Ser Polymorphism rs5061 - AKR1B1 P15121 VAR_014747 p.Thr288Ile Polymorphism rs5062 - AKR1B1 P15121 VAR_048213 p.Lys90Glu Polymorphism rs2229542 - AKR1C1 Q04828 VAR_048214 p.Arg170His Polymorphism rs17295755 - AKR1C1 Q04828 VAR_048215 p.Gln172Leu Polymorphism rs17354444 - AKR1C2 P52895 VAR_014748 p.Leu172Gln Polymorphism rs11474 - AKR1C2 P52895 VAR_048216 p.Phe46Tyr Polymorphism rs2854482 - AKR1C3 P42330 VAR_013288 p.His5Gln Polymorphism rs12529 - AKR1C3 P42330 VAR_013289 p.Met175Ile Polymorphism rs1131132 - AKR1C3 P42330 VAR_032767 p.Arg66Gln Polymorphism rs35961894 - AKR1C3 P42330 VAR_032768 p.Arg170Cys Polymorphism rs35575889 - AKR1C3 P42330 VAR_032769 p.Pro180Ser Polymorphism rs34186955 - AKR1C3 P42330 VAR_061001 p.Glu77Gly Polymorphism rs41306308 - AKR1C4 P17516 VAR_013290 p.Ser145Cys Polymorphism rs3829125 - AKR1C4 P17516 VAR_013291 p.Leu311Val Polymorphism rs17134592 - AKR1C4 P17516 VAR_028240 p.Gly135Glu Polymorphism rs11253043 - AKR1C4 P17516 VAR_028241 p.Cys170Tyr Polymorphism rs17851824 - AKR1C4 P17516 VAR_028242 p.Gln250Arg Polymorphism rs4880718 - AKR1CL1 Q5T2L2 VAR_032355 p.Arg50His Polymorphism rs7097295 - AKR1D1 P51857 VAR_033007 p.Leu106Phe Disease - Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_033008 p.Pro198Leu Disease - Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_044430 p.Pro133Arg Disease - Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_044431 p.Arg261Cys Disease - Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555] AKR1E2 Q96JD6 VAR_032356 p.Cys52Gly Polymorphism rs35429729 - AKR1E2 Q96JD6 VAR_032357 p.Lys86Arg Polymorphism rs17133693 - AKR7A2 O43488 VAR_017413 p.Ala142Thr Polymorphism rs1043657 - AKR7A2 O43488 VAR_017414 p.Gln157His Polymorphism rs859208 - AKR7A2 O43488 VAR_017415 p.Cys214Tyr Polymorphism rs2235794 - AKR7A2 O43488 VAR_048209 p.Val135Met Polymorphism rs6670759 - AKR7A2 O43488 VAR_048210 p.Gly198Ser Polymorphism rs2231200 - AKR7A2 O43488 VAR_048211 p.Ser255Asn Polymorphism rs2231203 - AKR7A2 O43488 VAR_060222 p.Glu180Lys Polymorphism rs859210 - AKR7A3 O95154 VAR_017416 p.Val138Met Polymorphism rs2231198 - AKR7A3 O95154 VAR_017417 p.Asn215Asp Polymorphism rs1738023 - AKR7A3 O95154 VAR_017418 p.Thr323Ala Polymorphism rs1738025 - AKR7L Q8NHP1 VAR_046190 p.Ala255Thr Polymorphism rs2235795 - AKR7L Q8NHP1 VAR_046191 p.Phe322Val Polymorphism rs2982534 - AKT1 P31749 VAR_051617 p.Val167Ala Polymorphism rs11555433 - AKT1 P31749 VAR_055422 p.Glu17Lys Disease rs121434592 Breast cancer (BC) [MIM:114480] AKT1 P31749 VAR_055422 p.Glu17Lys Disease rs121434592 Proteus syndrome (PROTEUSS) [MIM:176920] AKT1S1 Q96B36 VAR_028239 p.Ala47Pro Polymorphism rs17850191 - AKT2 P31751 VAR_040356 p.Ile188Val Polymorphism rs55859611 - AKT2 P31751 VAR_040357 p.Arg208Lys Polymorphism rs35817154 - AKT3 Q9Y243 VAR_040358 p.Gly171Arg Unclassified - A glioblastoma multiforme sample ALAD P13716 VAR_003633 p.Lys59Asn Polymorphism rs1800435 - ALAD P13716 VAR_003634 p.Gly133Arg Disease - Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_003635 p.Arg240Trp Disease - Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_003636 p.Ala274Thr Disease - Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_003637 p.Val275Met Disease - Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_020973 p.Phe12Leu Unclassified - - ALAD P13716 VAR_020974 p.Val153Met Disease - Acute hepatic porphyria (AHEPP) [MIM:612740] ALAS2 P22557 VAR_000562 p.Thr388Ser Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751] ALAS2 P22557 VAR_000563 p.Arg411Cys Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751] ALAS2 P22557 VAR_000564 p.Ile476Asn Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751] ALAS2 P22557 VAR_012334 p.Tyr199His Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751] ALAS2 P22557 VAR_012335 p.Arg204Gln Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751] ALAS2 P22557 VAR_012336 p.Arg448Gln Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751] ALAS2 P22557 VAR_012337 p.Arg452Cys Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751] ALAS2 P22557 VAR_018604 p.Asp159Tyr Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751] ALAS2 P22557 VAR_018605 p.Arg560His Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751] ALB P02768 VAR_000499 p.Arg23Cys Unclassified - - ALB P02768 VAR_000500 p.Arg23His Unclassified - - ALB P02768 VAR_000501 p.Arg24Leu Unclassified - - ALB P02768 VAR_000502 p.Arg24Pro Unclassified - - ALB P02768 VAR_000503 p.Arg24Gln Unclassified - - ALB P02768 VAR_000504 p.Asp25Val Unclassified - - ALB P02768 VAR_000505 p.His27Gln Unclassified - - ALB P02768 VAR_000506 p.His27Tyr Unclassified - - ALB P02768 VAR_000507 p.Glu84Lys Unclassified - - ALB P02768 VAR_000508 p.Asp87Asn Unclassified - - ALB P02768 VAR_000509 p.Glu106Lys Unclassified - - ALB P02768 VAR_000510 p.Arg138Gly Unclassified - - ALB P02768 VAR_000511 p.Glu143Lys Unclassified - - ALB P02768 VAR_000512 p.His152Arg Unclassified - - ALB P02768 VAR_000513 p.Cys201Phe Unclassified - - ALB P02768 VAR_000514 p.Arg242His Disease - Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600] ALB P02768 VAR_000515 p.Lys249Gln Unclassified - - ALB P02768 VAR_000516 p.Lys264Glu Unclassified - - ALB P02768 VAR_000517 p.Gln292Arg Unclassified - - ALB P02768 VAR_000518 p.Asp293Gly Unclassified - - ALB P02768 VAR_000519 p.Lys300Asn Unclassified - - ALB P02768 VAR_000520 p.Lys337Asn Unclassified - - ALB P02768 VAR_000521 p.Asn342Lys Unclassified - - ALB P02768 VAR_000522 p.Ala344Thr Unclassified - - ALB P02768 VAR_000523 p.Glu345Lys Unclassified - - ALB P02768 VAR_000524 p.Glu357Lys Unclassified - - ALB P02768 VAR_000525 p.Glu378Lys Unclassified - - ALB P02768 VAR_000526 p.Glu382Lys Unclassified - - ALB P02768 VAR_000527 p.Asp389His Unclassified - - ALB P02768 VAR_000528 p.Asp389Val Unclassified - - ALB P02768 VAR_000529 p.Lys396Glu Unclassified - - ALB P02768 VAR_000530 p.Asp399Asn Unclassified - - ALB P02768 VAR_000531 p.Glu400Lys Unclassified - - ALB P02768 VAR_000532 p.Glu400Gln Unclassified - - ALB P02768 VAR_000533 p.Glu406Lys Unclassified - - ALB P02768 VAR_000534 p.Glu503Lys Unclassified - - ALB P02768 VAR_000535 p.Asp518Asn Unclassified - - ALB P02768 VAR_000536 p.Glu525Lys Unclassified - - ALB P02768 VAR_000537 p.Glu529Lys Unclassified - - ALB P02768 VAR_000538 p.Lys560Glu Unclassified - - ALB P02768 VAR_000539 p.Lys565Glu Unclassified - - ALB P02768 VAR_000540 p.Asp574Gly Unclassified - - ALB P02768 VAR_000541 p.Asp574Ala Unclassified - - ALB P02768 VAR_000542 p.Asp587Asn Unclassified - - ALB P02768 VAR_000543 p.Glu589Lys Unclassified - - ALB P02768 VAR_000544 p.Glu594Lys Unclassified - - ALB P02768 VAR_000545 p.Lys597Glu Unclassified - - ALB P02768 VAR_000546 p.Lys598Asn Unclassified - - ALB P02768 VAR_010657 p.Phe73Tyr Polymorphism - - ALB P02768 VAR_013011 p.Leu90Pro Disease - Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600] ALB P02768 VAR_013012 p.Val146Glu Unclassified - - ALB P02768 VAR_013013 p.Arg242Pro Disease - Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600] ALB P02768 VAR_013014 p.Asp338Gly Unclassified - - ALB P02768 VAR_013015 p.Asp338Val Unclassified - - ALB P02768 VAR_013016 p.Lys383Asn Unclassified - - ALB P02768 VAR_013017 p.Arg434Cys Unclassified - - ALB P02768 VAR_013018 p.Val557Met Unclassified - - ALB P02768 VAR_013019 p.Lys584Glu Unclassified - - ALB P02768 VAR_014290 p.Glu121Gly Polymorphism - - ALB P02768 VAR_014291 p.Ala215Thr Polymorphism rs3210154 - ALB P02768 VAR_014292 p.Ala215Val Polymorphism rs3204504 - ALB P02768 VAR_014293 p.Gln220Leu Polymorphism rs3210163 - ALB P02768 VAR_014294 p.Glu420Lys Polymorphism - - ALB P02768 VAR_014295 p.Lys490Glu Polymorphism rs1063469 - ALCAM Q13740 VAR_003907 p.Asn258Ser Polymorphism rs1044240 - ALCAM Q13740 VAR_003908 p.Thr301Met Polymorphism rs1044243 - ALCAM Q13740 VAR_029514 p.Gly229Asp Polymorphism rs10933819 - ALCAM Q13740 VAR_029515 p.Leu315Met Polymorphism rs12629872 - ALCAM Q13740 VAR_029516 p.Val352Met Polymorphism rs2291375 - ALCAM Q13740 VAR_049856 p.Met367Ile Polymorphism rs34926152 - ALDH16A1 Q8IZ83 VAR_037638 p.Glu110Lys Polymorphism rs3745312 - ALDH16A1 Q8IZ83 VAR_037639 p.Leu227Val Polymorphism rs1320303 - ALDH18A1 P54886 VAR_038482 p.Arg84Gln Disease - Cutis laxa, autosomal recessive, type 3A (ARCL3A) [MIM:219150] ALDH18A1 P54886 VAR_051792 p.Thr299Ile Polymorphism rs2275272 - ALDH18A1 P54886 VAR_051793 p.Ser372Tyr Polymorphism rs3765571 - ALDH18A1 P54886 VAR_058006 p.His784Tyr Disease - Cutis laxa, autosomal recessive, type 3A (ARCL3A) [MIM:219150] ALDH1A1 P00352 VAR_017778 p.Ile177Phe Polymorphism rs8187929 - ALDH1A1 P00352 VAR_048901 p.Asn121Ser Polymorphism rs1049981 - ALDH1A1 P00352 VAR_048902 p.Gly125Arg Polymorphism rs11554423 - ALDH1A2 O94788 VAR_025439 p.Glu50Gly Polymorphism rs34266719 - ALDH1A2 O94788 VAR_025440 p.Ala110Val Polymorphism rs35365164 - ALDH1A2 O94788 VAR_025441 p.Val348Ile Polymorphism rs4646626 - ALDH1A2 O94788 VAR_025442 p.Glu436Lys Polymorphism rs34744827 - ALDH1A3 P47895 VAR_019706 p.Met386Val Polymorphism rs3803430 - ALDH1B1 P30837 VAR_002257 p.Ala86Val Polymorphism rs2228093 - ALDH1B1 P30837 VAR_002258 p.Leu107Arg Polymorphism rs2073478 - ALDH1B1 P30837 VAR_029891 p.Thr202Ile Polymorphism rs4646773 - ALDH1B1 P30837 VAR_029892 p.Val253Met Polymorphism rs4878199 - ALDH1L1 O75891 VAR_036101 p.Ala511Val Unclassified - A colorectal cancer sample ALDH1L1 O75891 VAR_052290 p.Leu254Pro Polymorphism rs3796191 - ALDH1L1 O75891 VAR_052291 p.Val330Phe Polymorphism rs2886059 - ALDH1L1 O75891 VAR_052292 p.Glu429Ala Polymorphism rs9282691 - ALDH1L1 O75891 VAR_052293 p.Ala436Thr Polymorphism rs9282692 - ALDH1L1 O75891 VAR_052294 p.Ala436Val Polymorphism rs9282693 - ALDH1L1 O75891 VAR_052295 p.Ser448Asn Polymorphism rs9282697 - ALDH1L1 O75891 VAR_052296 p.Ser481Gly Polymorphism rs2276724 - ALDH1L1 O75891 VAR_052297 p.Asp793Gly Polymorphism rs1127717 - ALDH1L1 O75891 VAR_052298 p.Glu803Lys Polymorphism rs9282689 - ALDH1L1 O75891 VAR_052299 p.Ile812Val Polymorphism rs4646750 - ALDH2 P05091 VAR_002248 p.Glu504Lys Polymorphism rs671 - ALDH2 P05091 VAR_011302 p.Glu496Lys Polymorphism - - ALDH2 P05091 VAR_011869 p.Glu337Val Polymorphism rs1062136 - ALDH3A1 P30838 VAR_011303 p.Pro329Ala Polymorphism rs2228100 - ALDH3A1 P30838 VAR_018981 p.Ser134Ala Polymorphism rs887241 - ALDH3A1 P30838 VAR_018982 p.Gly309Glu Polymorphism rs3744692 - ALDH3A2 P51648 VAR_002249 p.Leu106Arg Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002250 p.Cys214Tyr Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002251 p.Cys226Trp Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002252 p.Asp245Asn Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002254 p.Pro315Ser Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002255 p.Ser365Leu Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002256 p.Gly412Arg Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017510 p.Ile45Phe Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017511 p.Val64Asp Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017512 p.Pro114Leu Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017513 p.Pro121Leu Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017514 p.Thr184Met Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017515 p.Thr184Arg Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017516 p.Gly185Ala Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017517 p.Arg228Cys Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017518 p.Cys237Tyr Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017519 p.Lys266Asn Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017520 p.Tyr279Asn Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017521 p.Met328Ile Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017522 p.Asn386Ser Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017523 p.Gly406Arg Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017524 p.His411Tyr Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017525 p.Ser415Asn Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017526 p.Phe419Ser Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017527 p.Arg423His Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017528 p.Lys447Glu Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3B2 P48448 VAR_022058 p.Ala50Thr Polymorphism rs3741178 - ALDH3B2 P48448 VAR_055699 p.Ser302Arg Polymorphism rs4646826 - ALDH3B2 P48448 VAR_058696 p.Ser52Asn Polymorphism rs1551888 - ALDH3B2 P48448 VAR_058697 p.His203Arg Polymorphism rs6591270 - ALDH3B2 P48448 VAR_058698 p.Ser220Gly Polymorphism rs2447571 - ALDH3B2 P48448 VAR_058699 p.Arg276Trp Polymorphism rs17856219 - ALDH3B2 P48448 VAR_058700 p.His361Arg Polymorphism rs1551886 - ALDH4A1 P30038 VAR_002259 p.Pro16Leu Polymorphism - - ALDH4A1 P30038 VAR_002260 p.Ser352Leu Disease - Hyperprolinemia type 2 (HP-2) [MIM:239510] ALDH4A1 P30038 VAR_029337 p.Val470Ile Polymorphism rs2230709 - ALDH4A1 P30038 VAR_048903 p.Thr473Ala Polymorphism rs6695033 - ALDH5A1 P51649 VAR_016758 p.His180Tyr Polymorphism rs2760118 - ALDH5A1 P51649 VAR_016759 p.Pro182Leu Polymorphism rs3765310 - ALDH5A1 P51649 VAR_026199 p.Cys93Phe Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026200 p.Gly176Arg Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026201 p.Cys223Tyr Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026202 p.Thr233Met Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026203 p.Asn255Ser Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026204 p.Gly268Glu Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026205 p.Asn335Lys Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026206 p.Pro382Leu Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026207 p.Pro382Gln Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026208 p.Gly409Asp Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026209 p.Val487Glu Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026210 p.Gly533Arg Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] ALDH5A1 P51649 VAR_026227 p.Gly36Arg Polymorphism rs4646832 - ALDH5A1 P51649 VAR_026228 p.Ala237Ser Unclassified - - ALDH5A1 P51649 VAR_026229 p.Val406Ile Polymorphism - - ALDH6A1 Q02252 VAR_010244 p.Gly446Arg Disease - Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105] ALDH7A1 P49419 VAR_028202 p.Thr412Ala Polymorphism rs2306618 - ALDH7A1 P49419 VAR_028203 p.Lys439Gln Polymorphism rs12514417 - ALDH7A1 P49419 VAR_031718 p.Ala199Val Disease - Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_031719 p.Glu427Gln Disease - Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH8A1 Q9H2A2 VAR_037618 p.Phe402Ser Polymorphism rs2294315 - ALDH9A1 P49189 VAR_011304 p.Cys116Ser Polymorphism - - ALDOA P04075 VAR_000550 p.Asp129Gly Disease - Glycogen storage disease type 12 (GSD12) [MIM:611881] ALDOA P04075 VAR_044142 p.Glu207Lys Disease - Glycogen storage disease type 12 (GSD12) [MIM:611881] ALDOA P04075 VAR_044143 p.Cys339Tyr Disease - Glycogen storage disease type 12 (GSD12) [MIM:611881] ALDOA P04075 VAR_044144 p.Gly347Ser Disease - Glycogen storage disease type 12 (GSD12) [MIM:611881] ALDOA P04075 VAR_048219 p.Glu82Gln Polymorphism rs11553107 - ALDOA P04075 VAR_048220 p.Gly142Val Polymorphism rs11553108 - ALDOB P05062 VAR_000551 p.Cys135Arg Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000552 p.Trp148Arg Unclassified - - ALDOB P05062 VAR_000553 p.Ala150Pro Disease rs1800546 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000554 p.Ala175Asp Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000555 p.Leu257Pro Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000556 p.Arg304Trp Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000557 p.Asn335Lys Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000558 p.Ala338Val Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020822 p.Ile74Thr Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020824 p.Pro185Arg Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020825 p.Glu207Gln Polymorphism rs3739721 - ALDOB P05062 VAR_020826 p.Val222Phe Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020827 p.Leu229Pro Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020828 p.Arg304Gln Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_038429 p.Arg134Ser Polymorphism rs10123355 - ALDOB P05062 VAR_038430 p.Ile268Asn Polymorphism rs10989495 - ALDOB P05062 VAR_058211 p.Cys178Arg Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_058212 p.Leu284Pro Disease - Hereditary fructose intolerance (HFI) [MIM:229600] ALG10B Q5I7T1 VAR_023753 p.Ile446Val Unclassified - - ALG10B Q5I7T1 VAR_048217 p.Ala84Gly Polymorphism rs6582584 - ALG10B Q5I7T1 VAR_061002 p.Ser383Asn Polymorphism rs57963306 - ALG11 Q2TAA5 VAR_055902 p.Asn108Ser Polymorphism rs17480245 - ALG11 Q2TAA5 VAR_064908 p.Leu86Ser Disease - Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661] ALG12 Q9BV10 VAR_017904 p.Thr67Met Disease - Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_017905 p.Phe142Val Disease rs28942090 Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_017906 p.Arg146Gln Disease - Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_017907 p.Leu158Pro Disease - Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_024466 p.Ile393Val Polymorphism rs3922872 - ALG12 Q9BV10 VAR_038428 p.Gly101Arg Disease - Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] ALG14 Q96F25 VAR_029635 p.Val14Met Polymorphism rs11165298 - ALG1L Q6GMV1 VAR_039962 p.Asn135Asp Polymorphism rs3828357 - ALG1L Q6GMV1 VAR_039963 p.Ile159Thr Polymorphism rs3811679 - ALG1L Q6GMV1 VAR_039964 p.Gly184Ser Polymorphism rs3187686 - ALG1 Q9BT22 VAR_023364 p.Ser150Arg Disease - Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_023365 p.Ser258Leu Disease rs28939378 Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_023366 p.Gln342Pro Disease - Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_023367 p.Asp429Glu Polymorphism rs9745522 - ALG1 Q9BT22 VAR_038425 p.Ser267Asn Polymorphism rs17849848 - ALG1 Q9BT22 VAR_038426 p.Leu325Met Polymorphism rs17852920 - ALG1 Q9BT22 VAR_038427 p.Gln455Arg Polymorphism rs17856919 - ALG1 Q9BT22 VAR_049350 p.Arg438Trp Polymorphism rs16835020 - ALG2 Q9H553 VAR_049351 p.Ser11Pro Polymorphism rs11545137 - ALG2 Q9H553 VAR_049352 p.Val367Ala Polymorphism rs35626507 - ALG3 Q92685 VAR_010306 p.Gly118Asp Disease rs28940588 Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110] ALG3 Q92685 VAR_037805 p.Ile107Val Polymorphism rs2233463 - ALG3 Q92685 VAR_037806 p.Arg171Gln Disease - Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110] ALG6 Q9Y672 VAR_013442 p.Phe304Ser Polymorphism rs4630153 - ALG6 Q9Y672 VAR_013443 p.Ala333Val Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_013444 p.Ser478Pro Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_022511 p.Tyr131His Disease rs35383149 Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_022512 p.Ser170Ile Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_022513 p.Gly227Glu Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_022514 p.Ser308Arg Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_055493 p.Lys226Asn Polymorphism rs35604168 - ALG8 Q9BVK2 VAR_023480 p.Thr47Pro Disease - Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104] ALG8 Q9BVK2 VAR_023481 p.Asn222Ser Polymorphism rs665278 - ALG8 Q9BVK2 VAR_023482 p.Gly275Asp Disease - Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104] ALG8 Q9BVK2 VAR_031596 p.Ile439Thr Polymorphism rs17825668 - ALG9 Q9H6U8 VAR_023410 p.Tyr287Cys Disease - Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776] ALG9 Q9H6U8 VAR_023411 p.Val289Ile Polymorphism rs10502151 - ALG9 Q9H6U8 VAR_023412 p.Pro506Leu Polymorphism - - ALG9 Q9H6U8 VAR_023413 p.Glu523Lys Disease - Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776] ALG9 Q9H6U8 VAR_049221 p.Ala232Pro Polymorphism rs36111204 - ALG9 Q9H6U8 VAR_049222 p.Ser255Leu Polymorphism rs17113312 - ALG9 Q9H6U8 VAR_049223 p.Ile528Ser Polymorphism rs12575909 - ALKBH1 Q13686 VAR_048221 p.Met135Ile Polymorphism rs17825440 - ALKBH1 Q13686 VAR_048222 p.Met324Leu Polymorphism rs6494 - ALKBH2 Q6NS38 VAR_048223 p.Arg203His Polymorphism rs33962311 - ALKBH3 Q96Q83 VAR_026631 p.Asp228Glu Polymorphism rs2434470 - ALKBH3 Q96Q83 VAR_026632 p.Arg164Cys Polymorphism rs2271815 - ALKBH4 Q9NXW9 VAR_061004 p.Ala247Val Polymorphism rs41275227 - ALKBH7 Q9BT30 VAR_048224 p.Arg191Gln Polymorphism rs7540 - ALK Q9UM73 VAR_031042 p.Ile1461Val Polymorphism rs1670283 - ALK Q9UM73 VAR_031043 p.Lys1491Arg Polymorphism rs1881420 - ALK Q9UM73 VAR_031044 p.Asp1529Glu Polymorphism rs1881421 - ALK Q9UM73 VAR_041477 p.Ser90Leu Polymorphism rs34617074 - ALK Q9UM73 VAR_041478 p.Val163Leu Polymorphism rs55697431 - ALK Q9UM73 VAR_041479 p.Glu296Gln Polymorphism rs56077855 - ALK Q9UM73 VAR_041480 p.Val476Ala Polymorphism rs35093491 - ALK Q9UM73 VAR_041481 p.Leu560Phe Unclassified - A breast pleomorphic lobular carcinoma sample ALK Q9UM73 VAR_041482 p.Thr680Ile Polymorphism rs35228363 - ALK Q9UM73 VAR_041483 p.Ala704Thr Polymorphism rs34829159 - ALK Q9UM73 VAR_041484 p.Ala877Ser Unclassified - An ovarian serous carcinoma sample ALK Q9UM73 VAR_041485 p.Thr1012Met Polymorphism rs35073634 - ALK Q9UM73 VAR_041486 p.Gly1121Asp Polymorphism rs55760835 - ALK Q9UM73 VAR_041487 p.Ala1274Thr Polymorphism rs45502292 - ALK Q9UM73 VAR_041488 p.Met1328Leu Polymorphism rs56160491 - ALK Q9UM73 VAR_041489 p.Lys1416Asn Polymorphism rs55782189 - ALK Q9UM73 VAR_041490 p.Glu1419Lys Polymorphism rs56181542 - ALK Q9UM73 VAR_041491 p.Gln1429Arg Polymorphism rs55906201 - ALK Q9UM73 VAR_055987 p.Phe1376Ser Polymorphism rs17694720 - ALK Q9UM73 VAR_055988 p.Pro1599His Polymorphism rs1881423 - ALK Q9UM73 VAR_061288 p.Leu868Gln Polymorphism rs55941323 - ALK Q9UM73 VAR_063850 p.Asp1091Asn Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063851 p.Gly1128Ala Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063852 p.Thr1151Met Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063853 p.Met1166Arg Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063854 p.Ile1171Asn Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063855 p.Phe1174Cys Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063856 p.Phe1174Ile Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063857 p.Phe1174Leu Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063858 p.Phe1174Val Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063859 p.Arg1192Pro Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063860 p.Ala1234Thr Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063861 p.Phe1245Cys Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063862 p.Phe1245Val Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063863 p.Ile1250Thr Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063864 p.Arg1275Leu Unclassified - - ALK Q9UM73 VAR_063865 p.Arg1275Gln Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063866 p.Tyr1278Ser Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014] ALMS1P Q96L16 VAR_039260 p.Asn52Ser Polymorphism rs11885953 - ALMS1 Q8TCU4 VAR_025433 p.Val671Gly Polymorphism rs2037814 - ALMS1 Q8TCU4 VAR_025434 p.Ser2111Arg Polymorphism rs6724782 - ALMS1 Q8TCU4 VAR_025435 p.Ser2574Asn Polymorphism rs3820700 - ALMS1 Q8TCU4 VAR_025436 p.Asp2672His Polymorphism rs2017116 - ALMS1 Q8TCU4 VAR_056734 p.Gly1412Ala Polymorphism rs6546837 - ALMS1 Q8TCU4 VAR_059575 p.Ile1875Val Polymorphism rs6546838 - ALMS1 Q8TCU4 VAR_059576 p.Arg2284Pro Polymorphism rs6546839 - ALMS1 Q8TCU4 VAR_059577 p.Asn2856Ser Polymorphism rs10193972 - ALMS1 Q8TCU4 VAR_059578 p.Lys3434Glu Polymorphism rs34071195 - ALOX12B O75342 VAR_015173 p.Leu426Pro Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] ALOX12B O75342 VAR_015174 p.His578Gln Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] ALOX12B O75342 VAR_050000 p.Gly94Ser Polymorphism rs8077661 - ALOX12 P18054 VAR_004279 p.Ala298Thr Polymorphism - - ALOX12 P18054 VAR_018743 p.Gln261Arg Polymorphism rs1126667 - ALOX12 P18054 VAR_018744 p.Asn322Ser Polymorphism rs434473 - ALOX12 P18054 VAR_018745 p.Arg430His Polymorphism rs11571342 - ALOX12 P18054 VAR_030471 p.Glu259Lys Polymorphism rs4987104 - ALOX15B O15296 VAR_024524 p.Gln656Arg Polymorphism rs4792147 - ALOX15B O15296 VAR_024525 p.Ile676Val Polymorphism rs7225107 - ALOX15B O15296 VAR_061334 p.Arg486His Polymorphism rs9895916 - ALOX15 P16050 VAR_018746 p.Asp90His Polymorphism rs11568142 - ALOX15 P16050 VAR_018747 p.Asn103Lys Polymorphism rs11568099 - ALOX15 P16050 VAR_018748 p.Arg205Gln Polymorphism rs11568101 - ALOX15 P16050 VAR_035036 p.Gly102Val Polymorphism rs41439950 - ALOX15 P16050 VAR_035037 p.Val239Met Polymorphism rs3892408 - ALOX15 P16050 VAR_035038 p.Ala461Pro Polymorphism rs17852628 - ALOX15 P16050 VAR_035039 p.Thr560Met Polymorphism rs34210653 - ALOX5 P09917 VAR_028018 p.Glu254Lys Polymorphism rs2228065 - ALOXE3 Q9BYJ1 VAR_015175 p.Arg396Ser Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] ALOXE3 Q9BYJ1 VAR_015176 p.Val500Phe Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] ALPI P09923 VAR_011816 p.His298Leu Polymorphism rs1047223 - ALPI P09923 VAR_050524 p.Arg144His Polymorphism rs7559279 - ALPK1 Q96QP1 VAR_028982 p.Asn175Asp Polymorphism rs6533616 - ALPK1 Q96QP1 VAR_028983 p.Gly565Asp Polymorphism rs2074388 - ALPK1 Q96QP1 VAR_028984 p.His642Arg Polymorphism rs13148353 - ALPK1 Q96QP1 VAR_028985 p.Met732Ile Polymorphism rs2074379 - ALPK1 Q96QP1 VAR_028986 p.Met861Thr Polymorphism rs11726117 - ALPK1 Q96QP1 VAR_028987 p.Gly870Ser Polymorphism rs2074380 - ALPK1 Q96QP1 VAR_028988 p.Asn916Asp Polymorphism rs2074381 - ALPK1 Q96QP1 VAR_041511 p.Gln67Arg Polymorphism rs33943680 - ALPK1 Q96QP1 VAR_041512 p.Thr292Met Polymorphism rs34120296 - ALPK1 Q96QP1 VAR_041513 p.Leu320Met Polymorphism - - ALPK1 Q96QP1 VAR_041514 p.Lys339Glu Unclassified - An ovarian mucinous carcinoma sample ALPK1 Q96QP1 VAR_041515 p.Lys383Glu Polymorphism - - ALPK1 Q96QP1 VAR_041516 p.Pro660Leu Polymorphism rs35389530 - ALPK1 Q96QP1 VAR_041517 p.Gly681Asp Polymorphism rs35519493 - ALPK1 Q96QP1 VAR_041518 p.Arg873Ile Polymorphism rs34946272 - ALPK1 Q96QP1 VAR_041519 p.Glu910Asp Polymorphism rs35308602 - ALPK1 Q96QP1 VAR_041520 p.Pro935Leu Polymorphism rs34780600 - ALPK1 Q96QP1 VAR_041521 p.Arg1084Gln Polymorphism rs34677416 - ALPK1 Q96QP1 VAR_041522 p.Leu1117Pro Polymorphism rs35756863 - ALPK1 Q96QP1 VAR_041523 p.Ala1160Gly Polymorphism rs55696324 - ALPK1 Q96QP1 VAR_057741 p.His1008Pro Polymorphism rs34079946 - ALPK2 Q86TB3 VAR_045591 p.Glu942Lys Unclassified - An ovarian undifferentiated carcinoma sample ALPK2 Q86TB3 VAR_045593 p.Leu1296Val Polymorphism rs3809976 - ALPK2 Q86TB3 VAR_045594 p.Lys1476Thr Unclassified - A melanoma metastatic sample ALPK2 Q86TB3 VAR_045595 p.Glu1969Lys Polymorphism rs17065127 - ALPK2 Q86TB3 VAR_054914 p.Lys2Thr Polymorphism rs6566987 - ALPK2 Q86TB3 VAR_054915 p.Arg136Ser Polymorphism rs9944810 - ALPK2 Q86TB3 VAR_054916 p.His719Gln Polymorphism rs12103986 - ALPK2 Q86TB3 VAR_054917 p.Gly810Ser Polymorphism rs3809970 - ALPK2 Q86TB3 VAR_054918 p.Arg825Thr Polymorphism rs3809972 - ALPK2 Q86TB3 VAR_054919 p.Lys829Asn Polymorphism rs3809973 - ALPK2 Q86TB3 VAR_054920 p.Ser884Leu Polymorphism rs3809974 - ALPK2 Q86TB3 VAR_054921 p.Thr891Ile Polymorphism rs3826593 - ALPK2 Q86TB3 VAR_054922 p.Asn916Lys Polymorphism rs4940404 - ALPK2 Q86TB3 VAR_054923 p.Ser977Thr Polymorphism rs3809975 - ALPK2 Q86TB3 VAR_054924 p.Leu1057Val Polymorphism rs3809976 - ALPK2 Q86TB3 VAR_054925 p.Lys1134Asn Polymorphism rs35791514 - ALPK2 Q86TB3 VAR_054926 p.His1174Pro Polymorphism rs3809977 - ALPK2 Q86TB3 VAR_054927 p.Pro1449Ser Polymorphism rs3809982 - ALPK2 Q86TB3 VAR_054928 p.Ala1551Ser Polymorphism rs3809983 - ALPK2 Q86TB3 VAR_054929 p.Gln1579Arg Polymorphism rs33910491 - ALPK2 Q86TB3 VAR_054930 p.Lys1729Glu Polymorphism rs34409558 - ALPK2 Q86TB3 VAR_054931 p.Lys1730Glu Polymorphism rs17065127 - ALPK2 Q86TB3 VAR_054932 p.His1767Tyr Polymorphism rs7234999 - ALPK2 Q86TB3 VAR_054933 p.Ile2157Val Polymorphism rs7240666 - ALPK2 Q86TB3 VAR_057742 p.Arg1884Cys Polymorphism rs33969768 - ALPK2 Q86TB3 VAR_062168 p.Gly1063Val Polymorphism rs34347938 - ALPK3 Q96L96 VAR_028989 p.Thr414Ser Polymorphism rs3803403 - ALPK3 Q96L96 VAR_028990 p.Gly579Glu Polymorphism rs3803405 - ALPK3 Q96L96 VAR_028991 p.Thr761Met Polymorphism rs16974569 - ALPK3 Q96L96 VAR_028992 p.Pro1299Leu Polymorphism rs306197 - ALPK3 Q96L96 VAR_028993 p.Leu1622Pro Polymorphism rs187316 - ALPK3 Q96L96 VAR_041524 p.Arg336His Polymorphism rs34407151 - ALPK3 Q96L96 VAR_041525 p.Thr338Ile Polymorphism - - ALPK3 Q96L96 VAR_041526 p.Gln433Glu Unclassified - A lung large cell carcinoma sample ALPK3 Q96L96 VAR_041527 p.Gln602Arg Polymorphism - - ALPK3 Q96L96 VAR_041528 p.Gly663Asp Polymorphism - - ALPK3 Q96L96 VAR_041529 p.Arg836Leu Polymorphism - - ALPK3 Q96L96 VAR_041530 p.Glu929Asp Polymorphism - - ALPK3 Q96L96 VAR_041531 p.Gly1364Glu Unclassified - A metastatic melanoma sample ALPK3 Q96L96 VAR_041532 p.Arg1412Trp Polymorphism - - ALPK3 Q96L96 VAR_041533 p.Ala1557Asp Polymorphism rs34775428 - ALPK3 Q96L96 VAR_057743 p.Glu1013Lys Polymorphism rs35633849 - ALPK3 Q96L96 VAR_057744 p.Ala1137Gly Polymorphism rs34173528 - ALPK3 Q96L96 VAR_057745 p.Ala1873Val Polymorphism rs36002219 - ALPL P05186 VAR_006147 p.Ala33Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006148 p.Met62Leu Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006149 p.Arg71Cys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006150 p.Arg71Pro Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006151 p.Ala111Thr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006152 p.Arg136His Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006153 p.Gly162Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006154 p.His171Tyr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006155 p.Ala177Thr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006156 p.Ala179Thr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006157 p.Glu191Gly Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006158 p.Glu191Lys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006159 p.Cys201Tyr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006160 p.Gln207Pro Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006161 p.Tyr263His Polymorphism rs3200254 - ALPL P05186 VAR_006162 p.Leu289Phe Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006163 p.Asp294Ala Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006164 p.Asp306Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006165 p.Phe327Leu Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006166 p.Gly334Asp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006167 p.Asp378Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006168 p.Val382Ile Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006169 p.Tyr436His Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006170 p.Glu476Lys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011081 p.Ala40Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011082 p.Thr134Asn Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011083 p.Ala176Thr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011084 p.Lys224Glu Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011085 p.Arg246Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011086 p.Ala348Thr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011087 p.His381Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011088 p.Asp406Gly Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011089 p.Gly426Cys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011090 p.Arg450His Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011091 p.Gly456Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011092 p.Asn478Ile Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011093 p.Cys489Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011094 p.Val522Ala Polymorphism rs34605986 - ALPL P05186 VAR_013146 p.Ala132Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013972 p.Tyr28Cys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013973 p.Ala51Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013974 p.Gly63Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013975 p.Arg71His Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013976 p.Gly75Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013977 p.Ala116Thr Disease rs28933974 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013978 p.Gly120Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013979 p.Gly129Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013980 p.Arg152His Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013981 p.Asn170Asp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013982 p.Ser181Leu Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013983 p.Arg184Trp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013984 p.Asn211Asp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013985 p.Gly220Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013986 p.Arg223Trp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013987 p.Glu235Gly Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013988 p.Gly249Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013989 p.Glu291Lys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013990 p.Asp294Tyr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013991 p.Gly326Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013992 p.Phe327Gly Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013993 p.Arg391Cys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013994 p.Ala399Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013995 p.Val423Ala Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013996 p.Ser445Pro Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013997 p.Arg450Cys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013998 p.Val459Met Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013999 p.Gly473Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_014000 p.Ile490Phe Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_014001 p.Gly491Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025903 p.Ser17Phe Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025904 p.Ala51Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025905 p.Met62Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025906 p.Gly63Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025907 p.Thr68Met Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025908 p.Arg71Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025909 p.Gln76Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025910 p.Pro108Leu Disease rs28933975 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025911 p.Ala114Gly Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025912 p.Val128Met Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025913 p.Thr134His Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025914 p.Thr148Ile Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025915 p.Gly162Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025916 p.His171Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025917 p.Asp189Glu Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025918 p.Ile212Phe Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025919 p.Gly220Ala Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025920 p.Arg223Gln Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025921 p.Arg272His Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025922 p.Arg272Leu Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025923 p.Leu275Pro Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025924 p.Pro292Thr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025926 p.Met295Thr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025927 p.Tyr297Asp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025928 p.Glu298Lys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025929 p.Leu299Pro Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025930 p.Glu311Lys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025932 p.Gly339Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025933 p.Glu354Asp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025934 p.Arg391His Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025935 p.Thr411Ala Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025936 p.Leu414Met Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025937 p.Asn417Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025938 p.Gly426Asp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025939 p.Glu452Lys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025940 p.Ala468Thr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPPL2 P10696 VAR_027552 p.Gln34Glu Polymorphism rs1048983 - ALPPL2 P10696 VAR_027553 p.Leu273Met Polymorphism rs17416141 - ALPPL2 P10696 VAR_027554 p.Leu316Arg Polymorphism rs1048992 - ALPPL2 P10696 VAR_027555 p.Gly527Glu Polymorphism rs1048999 - ALPP P05187 VAR_017419 p.Pro25Leu Polymorphism rs1130335 - ALPP P05187 VAR_050520 p.Ile89Leu Polymorphism rs13026692 - ALPP P05187 VAR_050521 p.Arg231Pro Polymorphism rs1048988 - ALPP P05187 VAR_050522 p.Arg263His Polymorphism rs2853378 - ALPP P05187 VAR_050523 p.Glu451Gly Polymorphism rs1048994 - ALS2CL Q60I27 VAR_037791 p.Glu45Gln Polymorphism rs7642448 - ALS2CL Q60I27 VAR_037792 p.Gln280Glu Unclassified - A breast cancer sample ALS2CL Q60I27 VAR_037793 p.Leu576Phe Unclassified - A breast cancer sample ALS2CL Q60I27 VAR_061554 p.Gln29Arg Polymorphism rs59661801 - ALS2CR11 Q53TS8 VAR_024769 p.His376Gln Polymorphism rs10804117 - ALS2CR11 Q53TS8 VAR_035787 p.Lys123Met Unclassified - A colorectal cancer sample ALS2CR12 Q96Q35 VAR_045625 p.Val43Leu Polymorphism rs13014235 - ALS2 Q96Q42 VAR_015655 p.His102Arg Polymorphism - - ALS2 Q96Q42 VAR_015656 p.Val368Met Polymorphism rs3219156 - ALS2 Q96Q42 VAR_015657 p.Arg1406Lys Polymorphism - - ALS2 Q96Q42 VAR_036747 p.Ile94Val Polymorphism rs3219154 - ALS2 Q96Q42 VAR_036748 p.Glu159Lys Polymorphism rs3219155 - ALS2 Q96Q42 VAR_036749 p.Ser1255Phe Polymorphism rs10206276 - ALX3 O95076 VAR_047475 p.Pro234Ala Polymorphism rs12749726 - ALX3 O95076 VAR_063226 p.Leu168Val Disease - Frontonasal dysplasia type 1 (FND1) [MIM:136760] ALX3 O95076 VAR_063227 p.Arg183Trp Disease - Frontonasal dysplasia type 1 (FND1) [MIM:136760] ALX3 O95076 VAR_063228 p.Arg196Trp Disease - Frontonasal dysplasia type 1 (FND1) [MIM:136760] ALX3 O95076 VAR_063229 p.Asn203Ser Disease - Frontonasal dysplasia type 1 (FND1) [MIM:136760] ALX4 Q9H161 VAR_010783 p.Arg35Thr Polymorphism - - ALX4 Q9H161 VAR_010784 p.Pro102Ser Polymorphism rs12421995 - ALX4 Q9H161 VAR_010785 p.Arg218Gln Disease - Parietal foramina 2 (PFM2) [MIM:609597] ALX4 Q9H161 VAR_010897 p.Arg272Pro Disease - Parietal foramina 2 (PFM2) [MIM:609597] ALX4 Q9H161 VAR_058413 p.Arg257Thr Polymorphism rs3824915 - AMACR Q9UHK6 VAR_010660 p.Val9Met Polymorphism rs3195676 - AMACR Q9UHK6 VAR_010661 p.Ser52Pro Disease - Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307] AMACR Q9UHK6 VAR_010661 p.Ser52Pro Disease - Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950] AMACR Q9UHK6 VAR_010662 p.Gly175Asp Polymorphism rs10941112 - AMACR Q9UHK6 VAR_010663 p.Leu201Ser Polymorphism rs2287939 - AMACR Q9UHK6 VAR_010664 p.Glu277Lys Polymorphism rs2278008 - AMACR Q9UHK6 VAR_010665 p.Leu107Pro Disease - Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950] AMACR Q9UHK6 VAR_055616 p.Arg118Gln Polymorphism rs16892150 - AMACR Q9UHK6 VAR_055617 p.Pro238Ser Polymorphism rs9282594 - AMACR Q9UHK6 VAR_055618 p.Gln239His Polymorphism rs34677 - AMACR Q9UHK6 VAR_055619 p.Met261Ile Polymorphism rs9282593 - AMACR Q9UHK6 VAR_055620 p.Met261Thr Polymorphism rs3195678 - AMBN Q9NP70 VAR_014066 p.Met11Thr Unclassified - - AMBN Q9NP70 VAR_014067 p.Leu354Pro Polymorphism - - AMBN Q9NP70 VAR_014069 p.His439Arg Unclassified - - AMBN Q9NP70 VAR_048225 p.Ala255Val Polymorphism rs7439186 - AMDHD1 Q96NU7 VAR_031419 p.Ser3Gly Polymorphism rs7955450 - AMDHD1 Q96NU7 VAR_031420 p.Pro360His Polymorphism rs17024904 - AMDHD2 Q9Y303 VAR_038301 p.Asp294Asn Unclassified - A colorectal cancer sample AMELX Q99217 VAR_037581 p.Trp4Ser Disease - Amelogenesis imperfecta type 1E (AI1E) [MIM:301200] AMELX Q99217 VAR_037582 p.Thr37Ile Disease - Amelogenesis imperfecta type 1E (AI1E) [MIM:301200] AMELX Q99217 VAR_037583 p.Pro56Thr Disease - Amelogenesis imperfecta type 1E (AI1E) [MIM:301200] AMER1 Q5JTC6 VAR_031304 p.Lys292Asn Polymorphism - - AMER1 Q5JTC6 VAR_053870 p.Phe159Leu Polymorphism rs34677493 - AMER1 Q5JTC6 VAR_053871 p.Ala278Ser Polymorphism rs35718712 - AMER2 Q8N7J2 VAR_031303 p.Ile659Met Polymorphism rs2282406 - AMER2 Q8N7J2 VAR_036448 p.Ala457Thr Unclassified - A colorectal cancer sample AMER3 Q8N944 VAR_039218 p.Ser340Pro Polymorphism rs1905235 - AMFR Q9UKV5 VAR_035790 p.Asp605Val Unclassified - A breast cancer sample AMH P03971 VAR_007483 p.Val12Gly Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007484 p.Ser49Ile Polymorphism rs10407022 - AMH P03971 VAR_007485 p.Leu70Pro Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007486 p.Gly101Val Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007487 p.Arg123Trp Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007488 p.Tyr167Cys Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007489 p.Gln185Glu Polymorphism - - AMH P03971 VAR_007490 p.Arg194Cys Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007491 p.Gln325Arg Polymorphism - - AMH P03971 VAR_007492 p.Val477Ala Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] AMH P03971 VAR_031027 p.His506Gln Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] AMH P03971 VAR_031028 p.Cys525Tyr Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] AMH P03971 VAR_065100 p.Val515Ala Polymorphism rs10417628 - AMHR2 Q16671 VAR_015525 p.Arg54Cys Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015526 p.Gly142Val Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015527 p.His282Gln Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015528 p.Arg406Gln Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015529 p.Asp426Gly Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015530 p.Val458Ala Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015531 p.Asp491His Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015532 p.Arg504Cys Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] AMICA1 Q86YT9 VAR_049974 p.Ile94Asn Polymorphism rs17121881 - AMICA1 Q86YT9 VAR_049975 p.Val193Ala Polymorphism rs1793174 - AMICA1 Q86YT9 VAR_049976 p.Ile322Met Polymorphism rs2298831 - AMN Q9BXJ7 VAR_015733 p.Thr41Ile Disease rs28939377 Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100] AMOTL1 Q8IY63 VAR_033498 p.Pro847Leu Polymorphism rs11020968 - AMOTL2 Q9Y2J4 VAR_023535 p.Glu731Asp Polymorphism rs1353776 - AMOTL2 Q9Y2J4 VAR_055497 p.Thr227Ile Polymorphism rs35377537 - AMOTL2 Q9Y2J4 VAR_055498 p.Ala342Pro Polymorphism rs2303635 - AMOTL2 Q9Y2J4 VAR_055499 p.Gly415Ser Polymorphism rs2241559 - AMPD1 P23109 VAR_013270 p.Pro81Leu Polymorphism - - AMPD1 P23109 VAR_013271 p.Arg421Trp Disease rs35859650 Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770] AMPD1 P23109 VAR_013272 p.Arg458His Disease - Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770] AMPD1 P23109 VAR_035801 p.Pro666His Unclassified - A colorectal cancer sample AMPD1 P23109 VAR_048860 p.Glu55Lys Polymorphism rs2273268 - AMPD3 Q01432 VAR_009881 p.Arg573Cys Disease rs3741040 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_033499 p.Arg185Trp Polymorphism rs11042836 - AMPD3 Q01432 VAR_042606 p.Asn310Lys Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042607 p.Val311Leu Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042608 p.Ala320Val Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042609 p.Met324Thr Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042610 p.Arg331Cys Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042611 p.Arg402Cys Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042612 p.Trp450Arg Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042613 p.Tyr455His Polymorphism rs36003153 - AMPD3 Q01432 VAR_042614 p.Pro585Leu Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042615 p.Gln712Pro Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPH P49418 VAR_053004 p.Lys218Glu Polymorphism rs35166354 - AMPH P49418 VAR_053005 p.Met376Ile Polymorphism rs17171345 - AMPH P49418 VAR_053006 p.Lys496Thr Polymorphism rs35024632 - AMTN Q6UX39 VAR_035791 p.Gly78Ser Unclassified - A colorectal cancer sample AMTN Q6UX39 VAR_050661 p.Asn45Ser Polymorphism rs7660807 - AMTN Q6UX39 VAR_050662 p.Ser50Pro Polymorphism rs34803339 - AMT P48728 VAR_007951 p.His42Arg Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007952 p.Gly47Arg Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007953 p.Gly269Asp Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007954 p.Asp276His Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007955 p.Arg320His Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_016847 p.Asn145Ile Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_016848 p.Glu211Lys Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMZ1 Q400G9 VAR_024849 p.Arg491His Polymorphism rs7776970 - AMZ2 Q86W34 VAR_024850 p.Asn30Asp Polymorphism rs3213690 - AMZ2 Q86W34 VAR_047343 p.His146Gln Polymorphism rs3207194 - ANAPC10 Q9UM13 VAR_025200 p.Arg46Gln Polymorphism rs35257136 - ANAPC4 Q9UJX5 VAR_035792 p.Ile155Val Unclassified - A colorectal cancer sample ANAPC4 Q9UJX5 VAR_054044 p.Arg465Gln Polymorphism rs34811474 - ANAPC4 Q9UJX5 VAR_054045 p.Glu800Gly Polymorphism rs11550697 - ANAPC5 Q9UJX4 VAR_035793 p.Gln617His Unclassified - A breast cancer sample ANGEL1 Q9UNK9 VAR_056239 p.Gly141Trp Polymorphism rs34270005 - ANGEL1 Q9UNK9 VAR_056240 p.Phe515Cys Polymorphism rs2075773 - ANGEL1 Q9UNK9 VAR_061374 p.Val383Leu Polymorphism rs45499197 - ANGEL2 Q5VTE6 VAR_050290 p.Pro97Ser Polymorphism rs11542154 - ANG P03950 VAR_013148 p.Lys84Glu Polymorphism rs17560 - ANG P03950 VAR_044145 p.Phe12Ser Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044146 p.Pro20Ser Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044147 p.Gln36Leu Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044148 p.Lys41Glu Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044149 p.Lys41Ile Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044150 p.Ser52Asn Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044151 p.Arg55Lys Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044152 p.Cys63Trp Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044153 p.Lys64Ile Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044154 p.Ile70Val Unclassified - - ANG P03950 VAR_044155 p.Pro136Leu Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044156 p.Val137Ile Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANG P03950 VAR_044157 p.His138Arg Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] ANGPT2 O15123 VAR_049069 p.Val333Ile Polymorphism rs7813215 - ANGPT4 Q9Y264 VAR_049070 p.Glu395Lys Polymorphism rs869171 - ANGPTL3 Q9Y5C1 VAR_049071 p.Asn418Tyr Polymorphism rs4145257 - ANGPTL4 Q9BY76 VAR_020428 p.Thr266Met Polymorphism rs1044250 - ANGPTL4 Q9BY76 VAR_032642 p.Pro5Leu Polymorphism - - ANGPTL4 Q9BY76 VAR_032643 p.Glu40Lys Unclassified - - ANGPTL4 Q9BY76 VAR_032644 p.Met41Ile Polymorphism - - ANGPTL4 Q9BY76 VAR_032645 p.Ser67Arg Polymorphism - - ANGPTL4 Q9BY76 VAR_032646 p.Arg72Leu Polymorphism - - ANGPTL4 Q9BY76 VAR_032647 p.Gly77Arg Polymorphism - - ANGPTL4 Q9BY76 VAR_032648 p.Glu167Lys Polymorphism - - ANGPTL4 Q9BY76 VAR_032649 p.Pro174Ser Polymorphism - - ANGPTL4 Q9BY76 VAR_032650 p.Glu190Gln Polymorphism - - ANGPTL4 Q9BY76 VAR_032651 p.Glu196Lys Polymorphism - - ANGPTL4 Q9BY76 VAR_032652 p.Arg230Cys Polymorphism - - ANGPTL4 Q9BY76 VAR_032653 p.Gly233Arg Polymorphism - - ANGPTL4 Q9BY76 VAR_032654 p.Phe237Val Polymorphism - - ANGPTL4 Q9BY76 VAR_032655 p.Pro251Thr Polymorphism - - ANGPTL4 Q9BY76 VAR_032656 p.Arg278Gln Polymorphism rs35061979 - ANGPTL4 Q9BY76 VAR_032657 p.Val291Met Polymorphism - - ANGPTL4 Q9BY76 VAR_032658 p.Leu293Met Polymorphism - - ANGPTL4 Q9BY76 VAR_032659 p.Glu296Val Polymorphism - - ANGPTL4 Q9BY76 VAR_032660 p.Pro307Ser Polymorphism - - ANGPTL4 Q9BY76 VAR_032661 p.Val308Met Polymorphism - - ANGPTL4 Q9BY76 VAR_032662 p.Arg336Cys Polymorphism - - ANGPTL4 Q9BY76 VAR_032663 p.Asp338Glu Polymorphism - - ANGPTL4 Q9BY76 VAR_032664 p.Trp349Cys Polymorphism - - ANGPTL4 Q9BY76 VAR_032665 p.Gly361Arg Polymorphism - - ANGPTL4 Q9BY76 VAR_032666 p.Gly361Ser Polymorphism - - ANGPTL4 Q9BY76 VAR_032667 p.Arg371Gln Polymorphism - - ANGPTL4 Q9BY76 VAR_032668 p.Arg384Trp Polymorphism - - ANGPTL5 Q86XS5 VAR_055803 p.Ser175Pro Polymorphism rs7946238 - ANGPTL7 O43827 VAR_025075 p.Glu51Asp Polymorphism rs28990992 - ANGPTL7 O43827 VAR_025076 p.Arg140His Polymorphism rs28991002 - ANGPTL7 O43827 VAR_025077 p.Gln175His Polymorphism rs28991009 - ANK1 P16157 VAR_000595 p.Arg21Thr Polymorphism - - ANK1 P16157 VAR_000596 p.Val463Ile Disease - Spherocytosis type 1 (SPH1) [MIM:182900] ANK1 P16157 VAR_000597 p.Arg619His Polymorphism rs2304877 - ANK1 P16157 VAR_000598 p.Val750Ala Polymorphism - - ANK1 P16157 VAR_000599 p.Asp845Glu Polymorphism - - ANK1 P16157 VAR_000600 p.Ser1392Thr Polymorphism - - ANK1 P16157 VAR_000601 p.Glu1286Asp Polymorphism - - ANK1 P16157 VAR_000602 p.Asp1592Asn Unclassified - - ANK1 P16157 VAR_026411 p.Val991Leu Polymorphism - - ANK1 P16157 VAR_028769 p.Leu733Ile Polymorphism rs11778936 - ANK1 P16157 VAR_028770 p.Ala1126Pro Polymorphism rs504465 - ANK1 P16157 VAR_028771 p.Thr1192Pro Polymorphism rs486770 - ANK1 P16157 VAR_028772 p.Met1325Val Polymorphism rs10093583 - ANK1 P16157 VAR_028773 p.Val1546Ile Polymorphism rs1060130 - ANK1 P16157 VAR_035605 p.Asp332His Unclassified - A breast cancer sample ANK1 P16157 VAR_048263 p.Thr1075Ile Polymorphism rs35213384 - ANK1 P16157 VAR_054991 p.Leu276Arg Disease - Spherocytosis type 1 (SPH1) [MIM:182900] ANK1 P16157 VAR_054992 p.Ile1054Thr Disease - Spherocytosis type 1 (SPH1) [MIM:182900] ANK1 P16157 VAR_061012 p.Arg832Gln Polymorphism rs34523608 - ANK2 Q01484 VAR_022934 p.Glu1458Gly Disease - Long QT syndrome type 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022935 p.Leu3740Ile Disease - Long QT syndrome type 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022936 p.Thr3744Asn Disease - Long QT syndrome type 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022937 p.Arg3906Trp Disease - Long QT syndrome type 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022938 p.Glu3931Lys Disease - Long QT syndrome type 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_035606 p.Gly685Glu Unclassified - A breast cancer sample ANK2 Q01484 VAR_035607 p.Gly1267Arg Unclassified - A colorectal cancer sample ANK2 Q01484 VAR_035608 p.Thr3653Lys Unclassified - A colorectal cancer sample ANK2 Q01484 VAR_055504 p.Asn687Ser Polymorphism rs29372 - ANK2 Q01484 VAR_055505 p.Val2369Ala Polymorphism rs28377576 - ANK3 Q12955 VAR_054333 p.Ile4257Val Polymorphism rs12261793 - ANK3 Q12955 VAR_059115 p.His2885Gln Polymorphism rs11599164 - ANK3 Q12955 VAR_059116 p.Ile3117Val Polymorphism rs28932171 - ANK3 Q12955 VAR_059117 p.Lys3123Arg Polymorphism rs10821668 - ANK3 Q12955 VAR_061013 p.Lys2318Arg Polymorphism rs59021407 - ANK3 Q12955 VAR_061014 p.Gln2996His Polymorphism rs41274672 - ANKAR Q7Z5J8 VAR_032164 p.Ile675Val Polymorphism rs16831887 - ANKAR Q7Z5J8 VAR_032165 p.Leu1077Phe Polymorphism rs1225090 - ANKDD1A Q495B1 VAR_032358 p.Lys355Glu Polymorphism rs34988193 - ANKEF1 Q9NU02 VAR_024172 p.Leu324Gln Polymorphism rs652633 - ANKEF1 Q9NU02 VAR_033500 p.Pro74Thr Polymorphism rs7260784 - ANKEF1 Q9NU02 VAR_033501 p.Gly412Glu Polymorphism rs524625 - ANKEF1 Q9NU02 VAR_033502 p.Arg742Gln Polymorphism rs6087119 - ANKEF1 Q9NU02 VAR_035609 p.Lys694Asn Unclassified - A breast cancer sample ANKFN1 Q8N957 VAR_060725 p.Val445Ile Polymorphism rs10852985 - ANKHD1 Q8IWZ3 VAR_035291 p.Leu175Met Polymorphism rs17850570 - ANKHD1 Q8IWZ3 VAR_035292 p.Gly228Cys Polymorphism rs17850572 - ANKHD1 Q8IWZ3 VAR_035293 p.Asn1760Ser Polymorphism rs3752704 - ANKHD1 Q8IWZ3 VAR_048281 p.Gly1586Ser Polymorphism rs1051309 - ANKH Q9HCJ1 VAR_012192 p.Trp292Arg Disease - Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000] ANKH Q9HCJ1 VAR_012193 p.Cys331Arg Disease - Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000] ANKH Q9HCJ1 VAR_012198 p.Gly389Arg Disease rs28939080 Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000] ANKH Q9HCJ1 VAR_017556 p.Met48Thr Disease - Chondrocalcinosis 2 (CCAL2) [MIM:118600] ANKH Q9HCJ1 VAR_022606 p.Pro5Leu Disease - Chondrocalcinosis 2 (CCAL2) [MIM:118600] ANKH Q9HCJ1 VAR_022607 p.Pro5Thr Disease - Chondrocalcinosis 2 (CCAL2) [MIM:118600] ANKIB1 Q9P2G1 VAR_030862 p.Leu1016Met Polymorphism rs38794 - ANKK1 Q8NFD2 VAR_025010 p.Glu713Lys Polymorphism rs1800497 - ANKK1 Q8NFD2 VAR_036784 p.Ala239Thr Polymorphism rs7118900 - ANKK1 Q8NFD2 VAR_036785 p.Gly318Arg Polymorphism rs11604671 - ANKK1 Q8NFD2 VAR_036786 p.Gly442Arg Polymorphism rs4938016 - ANKK1 Q8NFD2 VAR_036787 p.His490Arg Polymorphism rs2734849 - ANKK1 Q8NFD2 VAR_040359 p.Asp4Tyr Polymorphism rs35657708 - ANKK1 Q8NFD2 VAR_040360 p.Arg122His Polymorphism rs35877321 - ANKK1 Q8NFD2 VAR_040361 p.Pro276Leu Polymorphism rs35488601 - ANKK1 Q8NFD2 VAR_040362 p.Lys347Thr Unclassified - A breast infiltrating ductal carcinoma sample ANKK1 Q8NFD2 VAR_040363 p.Leu366Phe Polymorphism rs56339158 - ANKK1 Q8NFD2 VAR_040364 p.His367Gln Polymorphism rs34298987 - ANKK1 Q8NFD2 VAR_040365 p.Glu376Lys Polymorphism rs56299709 - ANKK1 Q8NFD2 VAR_040366 p.Glu426Lys Polymorphism rs55699907 - ANKK1 Q8NFD2 VAR_040367 p.Gly451Arg Polymorphism rs34983219 - ANKK1 Q8NFD2 VAR_040368 p.Thr595Ile Polymorphism rs55787008 - ANKK1 Q8NFD2 VAR_040369 p.Pro596Leu Polymorphism rs7104979 - ANKK1 Q8NFD2 VAR_040370 p.Asn653Ser Polymorphism rs55849504 - ANKK1 Q8NFD2 VAR_040371 p.Ser670Gly Polymorphism rs56006094 - ANKK1 Q8NFD2 VAR_040372 p.Gln717Leu Unclassified - A lung large cell carcinoma sample ANKK1 Q8NFD2 VAR_040373 p.Arg736Leu Unclassified - A lung squamous cell carcinoma sample ANKK1 Q8NFD2 VAR_040374 p.Glu764Lys Unclassified - A lung neuroendocrine carcinoma sample ANKLE1 Q8NAG6 VAR_033507 p.Leu94Gln Polymorphism rs8108174 - ANKLE1 Q8NAG6 VAR_033508 p.Leu184Trp Polymorphism rs2363956 - ANKLE1 Q8NAG6 VAR_033509 p.Thr311Pro Polymorphism rs891017 - ANKLE1 Q8NAG6 VAR_033510 p.Gln435Arg Polymorphism rs11086065 - ANKLE1 Q8NAG6 VAR_033511 p.Val447Met Polymorphism rs34112069 - ANKLE1 Q8NAG6 VAR_061015 p.Pro160Ser Polymorphism rs59119993 - ANKLE1 Q8NAG6 VAR_063681 p.Ala31Thr Polymorphism rs8100241 - ANKLE1 Q8NAG6 VAR_063682 p.Ala71Val Polymorphism rs1864116 - ANKLE2 Q86XL3 VAR_031097 p.His122Tyr Polymorphism rs1132375 - ANKLE2 Q86XL3 VAR_031098 p.Gln148Glu Polymorphism rs7968520 - ANKLE2 Q86XL3 VAR_031099 p.Arg720His Polymorphism rs10781634 - ANKMY1 Q9P2S6 VAR_048264 p.Asp89Asn Polymorphism rs35278753 - ANKMY1 Q9P2S6 VAR_048265 p.Ile424Met Polymorphism rs35996697 - ANKMY1 Q9P2S6 VAR_048266 p.Asp451Val Polymorphism rs3796118 - ANKMY1 Q9P2S6 VAR_048267 p.Val472Leu Polymorphism rs3821348 - ANKMY1 Q9P2S6 VAR_048268 p.Thr649Met Polymorphism rs35044862 - ANKRD10 Q9NXR5 VAR_020095 p.Pro320Leu Polymorphism rs3742185 - ANKRD12 Q6UB98 VAR_019425 p.Ser171Thr Polymorphism - - ANKRD12 Q6UB98 VAR_022088 p.Ser818Asn Polymorphism rs2298546 - ANKRD12 Q6UB98 VAR_024173 p.Lys906Arg Polymorphism rs4798791 - ANKRD12 Q6UB98 VAR_026042 p.Pro277Ala Polymorphism rs2298548 - ANKRD12 Q6UB98 VAR_048271 p.Glu390Asp Polymorphism rs35101529 - ANKRD12 Q6UB98 VAR_048272 p.Thr507Ile Polymorphism rs17498752 - ANKRD12 Q6UB98 VAR_048273 p.Thr531Ser Polymorphism rs7243088 - ANKRD12 Q6UB98 VAR_048274 p.Leu998Ser Polymorphism rs34996750 - ANKRD12 Q6UB98 VAR_048275 p.Ser1758Pro Polymorphism rs3744822 - ANKRD13A Q8IZ07 VAR_048276 p.Leu505Pro Polymorphism rs2287174 - ANKRD13C Q8N6S4 VAR_026825 p.Thr413Ser Polymorphism rs17852616 - ANKRD16 Q6P6B7 VAR_026832 p.Gln353Arg Polymorphism rs1052420 - ANKRD16 Q6P6B7 VAR_033503 p.Ala128Gly Polymorphism rs2296136 - ANKRD17 O75179 VAR_036711 p.His2560Tyr Polymorphism rs2306059 - ANKRD18A Q8IVF6 VAR_055507 p.Glu130Lys Polymorphism rs1832313 - ANKRD18A Q8IVF6 VAR_055508 p.Ala277Glu Polymorphism rs632200 - ANKRD18A Q8IVF6 VAR_055509 p.Asn484Ser Polymorphism rs2996347 - ANKRD18A Q8IVF6 VAR_055510 p.Tyr688Cys Polymorphism rs2799163 - ANKRD18A Q8IVF6 VAR_055511 p.Thr942Ile Polymorphism rs11999308 - ANKRD18A Q8IVF6 VAR_055512 p.Glu945Asp Polymorphism rs12341435 - ANKRD18A Q8IVF6 VAR_059118 p.Glu838Asp Polymorphism rs12341435 - ANKRD1 Q15327 VAR_047112 p.Thr116Met Disease - Total anomalous pulmonary venous return (TAPVR) [MIM:106700] ANKRD22 Q5VYY1 VAR_027628 p.Glu73Gly Polymorphism rs17113412 - ANKRD22 Q5VYY1 VAR_027629 p.Tyr79His Polymorphism rs17851907 - ANKRD22 Q5VYY1 VAR_027630 p.Gln148Pro Polymorphism rs2304804 - ANKRD22 Q5VYY1 VAR_027631 p.Arg177Ile Polymorphism rs7912706 - ANKRD24 Q8TF21 VAR_042536 p.Ala111Thr Polymorphism rs2052191 - ANKRD24 Q8TF21 VAR_042537 p.Arg349Gln Polymorphism rs12978469 - ANKRD24 Q8TF21 VAR_042538 p.Glu585Lys Polymorphism rs10413818 - ANKRD24 Q8TF21 VAR_042539 p.Ser684Ala Polymorphism rs353693 - ANKRD26P1 Q6NSI1 VAR_040003 p.Lys265Thr Polymorphism rs1436436 - ANKRD26 Q9UPS8 VAR_026833 p.Gln20Arg Polymorphism rs7897309 - ANKRD26 Q9UPS8 VAR_026834 p.Val1304Ile Polymorphism rs10829163 - ANKRD26 Q9UPS8 VAR_026835 p.Phe1513Leu Polymorphism rs2274741 - ANKRD26 Q9UPS8 VAR_055513 p.Ile425Val Polymorphism rs12359281 - ANKRD26 Q9UPS8 VAR_055514 p.Val1219Leu Polymorphism rs12572862 - ANKRD27 Q96NW4 VAR_030317 p.Ser657Gly Polymorphism rs2287669 - ANKRD27 Q96NW4 VAR_030318 p.Pro761Arg Polymorphism rs2302970 - ANKRD29 Q8N6D5 VAR_026869 p.Gly112Glu Polymorphism rs17855552 - ANKRD29 Q8N6D5 VAR_035610 p.Val95Met Unclassified - A breast cancer sample ANKRD2 Q9GZV1 VAR_042498 p.Ala62Thr Polymorphism rs7094973 - ANKRD30A Q9BXX3 VAR_033504 p.Thr611Ala Polymorphism rs16937417 - ANKRD30A Q9BXX3 VAR_033505 p.Lys917Asn Polymorphism rs1209750 - ANKRD30A Q9BXX3 VAR_035611 p.Gln227Glu Unclassified - A breast cancer sample ANKRD30A Q9BXX3 VAR_055515 p.Arg985Cys Polymorphism rs1200875 - ANKRD30B Q9BXX2 VAR_042540 p.Val375Met Polymorphism rs9748611 - ANKRD30B Q9BXX2 VAR_042541 p.Phe477Leu Polymorphism rs9675365 - ANKRD31 Q8N7Z5 VAR_042542 p.Asp702Asn Polymorphism rs1422698 - ANKRD31 Q8N7Z5 VAR_042543 p.Arg758Gly Polymorphism rs6893216 - ANKRD31 Q8N7Z5 VAR_042544 p.Asp1609Glu Polymorphism rs961098 - ANKRD31 Q8N7Z5 VAR_042545 p.Arg1777Lys Polymorphism rs4489037 - ANKRD32 Q9BQI6 VAR_059120 p.Ser288Arg Polymorphism rs6891545 - ANKRD33 Q7Z3H0 VAR_059121 p.Tyr5Phe Polymorphism rs697636 - ANKRD33 Q7Z3H0 VAR_059122 p.Gln132Arg Polymorphism rs34494292 - ANKRD33 Q7Z3H0 VAR_059123 p.Thr188Asn Polymorphism rs12368048 - ANKRD33 Q7Z3H0 VAR_059124 p.Val261Ile Polymorphism rs3180417 - ANKRD34B A5PLL1 VAR_038952 p.Leu156Ser Polymorphism rs32857 - ANKRD34C P0C6C1 VAR_038953 p.Pro369Arg Polymorphism rs410400 - ANKRD34C P0C6C1 VAR_038954 p.Pro427His Polymorphism rs449340 - ANKRD34C P0C6C1 VAR_038955 p.Leu442Ile Polymorphism rs422777 - ANKRD35 Q8N283 VAR_026870 p.Pro428Ser Polymorphism rs6670984 - ANKRD35 Q8N283 VAR_033506 p.Asn978Asp Polymorphism rs16827032 - ANKRD35 Q8N283 VAR_048278 p.Asn53Lys Polymorphism rs6658371 - ANKRD35 Q8N283 VAR_061017 p.Arg592Gln Polymorphism rs41315701 - ANKRD36B Q8N2N9 VAR_057818 p.Glu496Asp Polymorphism rs13001728 - ANKRD36B Q8N2N9 VAR_060687 p.Glu483Gly Polymorphism rs1839230 - ANKRD36B Q8N2N9 VAR_060688 p.Ser534Ala Polymorphism rs6761299 - ANKRD37 Q7Z713 VAR_048279 p.Thr152Ser Polymorphism rs4317244 - ANKRD39 Q53RE8 VAR_026905 p.Ala113Thr Polymorphism rs17852947 - ANKRD42 Q8N9B4 VAR_028366 p.Asn198Asp Polymorphism rs17515016 - ANKRD53 Q8N9V6 VAR_030300 p.Leu153Ile Polymorphism rs17853403 - ANKRD53 Q8N9V6 VAR_054427 p.Met243Thr Polymorphism rs36123544 - ANKRD53 Q8N9V6 VAR_061018 p.Ala105Gly Polymorphism rs35096506 - ANKRD55 Q3KP44 VAR_030283 p.Val345Met Polymorphism rs321776 - ANKRD55 Q3KP44 VAR_055516 p.Arg594Gln Polymorphism rs34879141 - ANKRD60 Q9BZ19 VAR_014400 p.Arg295Cys Polymorphism rs584855 - ANKRD62 A6NC57 VAR_042527 p.Ala188Ser Polymorphism rs1986751 - ANKRD62 A6NC57 VAR_042528 p.Cys265Arg Polymorphism rs6505715 - ANKRD62 A6NC57 VAR_042529 p.Glu406Lys Polymorphism rs4519391 - ANKRD62 A6NC57 VAR_042530 p.Ala613Thr Polymorphism rs7243248 - ANKRD6 Q9Y2G4 VAR_039114 p.Gln122Glu Polymorphism rs16881983 - ANKRD6 Q9Y2G4 VAR_039115 p.Ile128Val Polymorphism rs3748085 - ANKRD6 Q9Y2G4 VAR_039116 p.Thr233Met Polymorphism rs2273238 - ANKRD6 Q9Y2G4 VAR_039117 p.Thr545Ala Polymorphism rs9362667 - ANKRD6 Q9Y2G4 VAR_055506 p.Ala550Thr Polymorphism rs9362667 - ANKS1A Q92625 VAR_021168 p.Leu694Ser Polymorphism rs820085 - ANKS1A Q92625 VAR_048282 p.Ala355Asp Polymorphism rs6930932 - ANKS3 Q6ZW76 VAR_048283 p.Ala404Thr Polymorphism rs863980 - ANKS3 Q6ZW76 VAR_048284 p.Ala593Thr Polymorphism rs9936675 - ANKS6 Q68DC2 VAR_034794 p.Val644Ile Polymorphism rs6415847 - ANKUB1 A6NFN9 VAR_045621 p.Arg217Trp Polymorphism rs7645720 - ANKUB1 A6NFN9 VAR_045622 p.Ile306Met Polymorphism rs3821406 - ANKUB1 A6NFN9 VAR_045623 p.Ser386Gly Polymorphism rs7610425 - ANKZF1 Q9H8Y5 VAR_048269 p.Arg569Trp Polymorphism rs2293076 - ANKZF1 Q9H8Y5 VAR_048270 p.Pro676Leu Polymorphism rs2293079 - ANLN Q9NQW6 VAR_025661 p.Ser65Trp Polymorphism rs3735400 - ANLN Q9NQW6 VAR_025662 p.Arg185Lys Polymorphism rs197367 - ANO10 Q9NW15 VAR_032638 p.Arg462Gln Polymorphism rs3772165 - ANO10 Q9NW15 VAR_032639 p.Thr561Met Polymorphism rs17409162 - ANO10 Q9NW15 VAR_032640 p.Val583Ala Polymorphism rs17853862 - ANO10 Q9NW15 VAR_064888 p.Leu510Arg Disease - Spinocerebellar ataxia autosomal recessive type 10 (SCAR10) [MIM:613728] ANO1 Q5XXA6 VAR_032417 p.Phe608Ser Polymorphism rs2186797 - ANO1 Q5XXA6 VAR_032418 p.Gly983Arg Polymorphism rs3740722 - ANO2 Q9NQ90 VAR_020331 p.Ser505Ala Polymorphism rs1860961 - ANO2 Q9NQ90 VAR_021932 p.Val112Ala Polymorphism rs3741903 - ANO2 Q9NQ90 VAR_057286 p.Pro147Ser Polymorphism rs3741901 - ANO2 Q9NQ90 VAR_061853 p.Met401Ile Polymorphism rs17788563 - ANO3 Q9BYT9 VAR_057287 p.Leu781Val Polymorphism rs11825056 - ANO4 Q32M45 VAR_032453 p.Gly115Ala Polymorphism rs34162417 - ANO5 Q75V66 VAR_023524 p.Cys356Gly Disease - Gnathodiaphyseal dysplasia (GDD) [MIM:166260] ANO5 Q75V66 VAR_023525 p.Cys356Arg Disease - Gnathodiaphyseal dysplasia (GDD) [MIM:166260] ANO5 Q75V66 VAR_052339 p.Leu322Phe Polymorphism rs7481951 - ANO5 Q75V66 VAR_052340 p.Asn882Lys Polymorphism rs34969327 - ANO5 Q75V66 VAR_063582 p.Gly231Val Disease - Limb-girdle muscular dystrophy type 2L (LGMD2L) [MIM:611307] ANO5 Q75V66 VAR_063583 p.Arg758Cys Disease - Miyoshi muscular dystrophy type 3 (MMD3) [MIM:613319] ANO6 Q4KMQ2 VAR_028109 p.Ala128Thr Polymorphism rs2162321 - ANO7 Q6IWH7 VAR_032616 p.Val67Ile Polymorphism rs2302054 - ANO7 Q6IWH7 VAR_065166 p.Glu912Lys Polymorphism rs7590653 - ANO9 A1A5B4 VAR_032617 p.Ile391Val Polymorphism rs10794324 - ANO9 A1A5B4 VAR_032618 p.Cys399Arg Polymorphism rs10794323 - ANO9 A1A5B4 VAR_054621 p.Phe93Leu Polymorphism rs7395065 - ANP32C O43423 VAR_020419 p.Arg71Lys Polymorphism rs2288675 - ANP32C O43423 VAR_020420 p.Glu204Gly Polymorphism rs2288676 - ANP32C O43423 VAR_026702 p.Ala23Val Polymorphism rs2288674 - ANP32C O43423 VAR_026703 p.Tyr140His Polymorphism - - ANP32C O43423 VAR_048314 p.Leu105Pro Polymorphism rs17008716 - ANP32D O95626 VAR_027832 p.Leu46Phe Polymorphism rs7956679 - ANPEP P15144 VAR_006727 p.Asp242Tyr Polymorphism - - ANPEP P15144 VAR_006728 p.Leu243Pro Polymorphism - - ANPEP P15144 VAR_014736 p.Arg86Gln Polymorphism rs25653 - ANPEP P15144 VAR_014737 p.Ser752Asn Polymorphism rs25651 - ANPEP P15144 VAR_031262 p.Val20Met Polymorphism rs10152474 - ANPEP P15144 VAR_031263 p.Ala311Val Polymorphism rs17240268 - ANPEP P15144 VAR_031264 p.Thr321Met Polymorphism rs8179199 - ANPEP P15144 VAR_031265 p.Ile603Lys Polymorphism rs17240212 - ANPEP P15144 VAR_031266 p.Ile603Met Polymorphism rs8192297 - ANTXR1 Q9H6X2 VAR_053015 p.Arg7Lys Polymorphism rs28365986 - ANTXR1 Q9H6X2 VAR_063146 p.Ala326Thr Unclassified - - ANTXR2 P58335 VAR_022687 p.Leu45Pro Disease - Infantile systemic hyalinosis (ISH) [MIM:236490] ANTXR2 P58335 VAR_022688 p.Gly105Asp Disease - Juvenile hyaline fibromatosis (JHF) [MIM:228600] ANTXR2 P58335 VAR_022689 p.Ile189Thr Disease - Infantile systemic hyalinosis (ISH) [MIM:236490] ANTXR2 P58335 VAR_022690 p.Cys218Arg Disease - Infantile systemic hyalinosis (ISH) [MIM:236490] ANTXR2 P58335 VAR_022692 p.Leu329Arg Disease - Juvenile hyaline fibromatosis (JHF) [MIM:228600] ANTXR2 P58335 VAR_022693 p.Ala357Pro Polymorphism rs12647691 - ANTXR2 P58335 VAR_022694 p.Tyr381Cys Disease - Juvenile hyaline fibromatosis (JHF) [MIM:228600] ANTXRL A6NF34 VAR_042963 p.Pro547Arg Polymorphism rs7091749 - ANXA10 Q9UJ72 VAR_030786 p.Met71Leu Polymorphism rs6836994 - ANXA11 P50995 VAR_012006 p.Arg230Cys Polymorphism rs1049550 - ANXA11 P50995 VAR_012007 p.Ile457Val Polymorphism rs1802932 - ANXA11 P50995 VAR_048259 p.Arg191Gln Polymorphism rs2229554 - ANXA13 P27216 VAR_055501 p.Arg86His Polymorphism rs2294013 - ANXA13 P27216 VAR_055502 p.Val108Ile Polymorphism rs6995099 - ANXA13 P27216 VAR_055503 p.Val272Ile Polymorphism rs2294015 - ANXA2 P07355 VAR_012982 p.Val98Leu Polymorphism - - ANXA2R Q3ZCQ2 VAR_033348 p.Gln119Arg Polymorphism rs1054428 - ANXA2R Q3ZCQ2 VAR_033349 p.Arg186Trp Polymorphism rs10971 - ANXA3 P12429 VAR_013914 p.Ser19Asn Polymorphism rs5951 - ANXA3 P12429 VAR_013915 p.Ile219Asn Polymorphism rs5948 - ANXA3 P12429 VAR_013916 p.Pro251Leu Polymorphism rs5949 - ANXA3 P12429 VAR_013917 p.Phe291Ser Polymorphism rs5941 - ANXA4 P09525 VAR_055500 p.Thr85Met Polymorphism rs2228203 - ANXA7 P20073 VAR_048253 p.Arg441Gln Polymorphism rs3750575 - ANXA8L2 Q5VT79 VAR_048254 p.Ala177Gly Polymorphism rs3013886 - ANXA8 P13928 VAR_000604 p.Ser6Ala Polymorphism - - ANXA8 P13928 VAR_030630 p.Gly177Ala Polymorphism rs3013886 - ANXA9 O76027 VAR_022814 p.Asp166Gly Polymorphism rs267733 - ANXA9 O76027 VAR_031212 p.Arg225Gln Polymorphism rs7542365 - ANXA9 O76027 VAR_048255 p.Ala28Thr Polymorphism rs16832595 - ANXA9 O76027 VAR_048256 p.Thr114Ala Polymorphism rs7536645 - ANXA9 O76027 VAR_048257 p.Ala119Thr Polymorphism rs16832602 - ANXA9 O76027 VAR_048258 p.Arg232Gln Polymorphism rs7542365 - AOAH P28039 VAR_020133 p.Ala166Thr Polymorphism rs3735384 - AOAH P28039 VAR_033513 p.Ala266Gly Polymorphism rs3735386 - AOAH P28039 VAR_050663 p.Asp28Asn Polymorphism rs11976480 - AOC2 O75106 VAR_025022 p.Ile5Val Polymorphism rs34230945 - AOC2 O75106 VAR_025023 p.Tyr22Cys Polymorphism rs34435306 - AOC2 O75106 VAR_025024 p.Pro141Leu Polymorphism rs35833794 - AOC2 O75106 VAR_025025 p.Arg273Gln Polymorphism rs35508987 - AOC2 O75106 VAR_025026 p.Glu427Asp Polymorphism rs34351794 - AOC3 Q16853 VAR_012064 p.Tyr317His Polymorphism rs438287 - AOC3 Q16853 VAR_024343 p.Arg329Gln Polymorphism rs2229595 - AOC3 Q16853 VAR_025027 p.His167Tyr Polymorphism rs2228470 - AOC3 Q16853 VAR_025028 p.Ile371Thr Polymorphism rs35097308 - AOC3 Q16853 VAR_025029 p.Ala408Ser Polymorphism rs35643019 - AOC3 Q16853 VAR_025030 p.Arg426His Polymorphism rs33986943 - AOC3 Q16853 VAR_025031 p.Arg441Trp Polymorphism rs2229596 - AOC3 Q16853 VAR_025032 p.Ala582Thr Polymorphism rs34987927 - AOC3 Q16853 VAR_025033 p.Gly700Ser Polymorphism rs477207 - AOC3 Q16853 VAR_025034 p.Ala749Val Polymorphism rs34012919 - AOC3 Q16853 VAR_025035 p.Thr5Arg Polymorphism rs33954211 - AOC3 Q16853 VAR_052603 p.Arg78Gln Polymorphism rs402680 - AOC3 Q16853 VAR_052604 p.Val171Met Polymorphism rs408038 - AOC3 Q16853 VAR_052605 p.His203Arg Polymorphism rs630079 - AOPEP Q8N6M6 VAR_021511 p.Val179Ala Polymorphism rs16911679 - AOPEP Q8N6M6 VAR_057053 p.Val179Ile Polymorphism rs16911679 - AOPEP Q8N6M6 VAR_057054 p.Arg255Gln Polymorphism rs16911681 - AOPEP Q8N6M6 VAR_057055 p.Arg386Cys Polymorphism rs34557833 - AOX1 Q06278 VAR_047517 p.Arg802Cys Polymorphism rs41309768 - AOX1 Q06278 VAR_047518 p.His1297Arg Polymorphism rs3731722 - AOX1 Q06278 VAR_061136 p.Gln314Arg Polymorphism rs58185012 - AP1AR Q63HQ0 VAR_050769 p.Thr297Ile Polymorphism rs34900583 - AP1B1 Q10567 VAR_062816 p.Thr777Ala Polymorphism rs2857465 - AP1G1 O43747 VAR_013572 p.Pro685His Polymorphism rs904763 - AP1G1 O43747 VAR_048194 p.Val195Gly Polymorphism rs36037071 - AP1G2 O75843 VAR_024363 p.Ser377Phe Polymorphism rs12897422 - AP1M1 Q9BXS5 VAR_036536 p.Arg303Gln Unclassified - A breast cancer sample AP2A1 O95782 VAR_060544 p.Pro270Leu Polymorphism rs17851121 - AP3B1 O00203 VAR_011596 p.Leu580Arg Disease - Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233] AP3B1 O00203 VAR_058404 p.Val585Glu Polymorphism rs6453373 - AP3D1 O14617 VAR_033517 p.Gly541Arg Polymorphism rs34569645 - AP3D1 O14617 VAR_033518 p.Ile1072Val Polymorphism rs25673 - AP3S1 Q92572 VAR_059111 p.Pro158Leu Polymorphism rs7733604 - AP4B1 Q9Y6B7 VAR_030804 p.Leu480Ser Polymorphism rs1217401 - AP4E1 Q9UPM8 VAR_031621 p.Cys163Arg Polymorphism rs2306331 - AP5M1 Q9H0R1 VAR_055484 p.Gly226Arg Polymorphism rs10137359 - AP5M1 Q9H0R1 VAR_055485 p.Glu379Asp Polymorphism rs10140245 - AP5Z1 O43299 VAR_049511 p.Ser94Cys Polymorphism rs11549839 - APBA1 Q02410 VAR_050664 p.Ser184Ala Polymorphism rs34788368 - APBA2 Q99767 VAR_050665 p.Leu311Pro Polymorphism rs8040932 - APBA3 O96018 VAR_011822 p.Ile527Phe Polymorphism rs1045236 - APBA3 O96018 VAR_020134 p.Lys276Thr Polymorphism rs3746119 - APBA3 O96018 VAR_047952 p.Cys376Arg Polymorphism rs8102086 - APBA3 O96018 VAR_050666 p.Trp154Leu Polymorphism rs35932323 - APBB1IP Q7Z5R6 VAR_050098 p.Thr404Ala Polymorphism rs34081356 - APBB1IP Q7Z5R6 VAR_059447 p.Ala617Thr Polymorphism rs7903226 - APBB1 O00213 VAR_014444 p.Met327Val Polymorphism rs1800423 - APBB1 O00213 VAR_014445 p.Asn396Ser Polymorphism rs1800425 - APBB3 O95704 VAR_024702 p.Cys231Arg Polymorphism rs250430 - APBB3 O95704 VAR_029518 p.Gly165Arg Polymorphism rs7715021 - APC2 O95996 VAR_037703 p.Ala562Ser Unclassified - A breast cancer sample APC2 O95996 VAR_037704 p.Gly2003Ser Unclassified - A breast cancer sample APC2 O95996 VAR_037705 p.Ser2241Ala Polymorphism rs265277 - APCDD1L Q8NCL9 VAR_029625 p.Cys30Arg Polymorphism rs3946003 - APCDD1L Q8NCL9 VAR_029626 p.Tyr80His Polymorphism rs7265854 - APCDD1L Q8NCL9 VAR_029627 p.Arg261Cys Polymorphism rs16981999 - APCDD1L Q8NCL9 VAR_050668 p.Arg83Gln Polymorphism rs7265902 - APCDD1 Q8J025 VAR_050667 p.Val150Ile Polymorphism rs3748415 - APCDD1 Q8J025 VAR_063497 p.Leu9Arg Disease - Hypotrichosis type 1 (HYPT1) [MIM:605389] APC P25054 VAR_005032 p.Ser171Ile Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005033 p.Arg414Cys Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005034 p.Ser784Thr Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005035 p.Gly817Cys Disease - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005036 p.Ile880Thr Unclassified - Colorectal carcinoma APC P25054 VAR_005036 p.Ile880Thr Disease - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005037 p.Ser906Tyr Unclassified - Colorectal tumor APC P25054 VAR_005038 p.Glu911Gly Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005039 p.Asn942Asp Disease - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005040 p.Tyr1027Cys Unclassified - Colorectal tumor APC P25054 VAR_005041 p.Asn1118Asp Polymorphism - - APC P25054 VAR_005042 p.Gly1120Glu Disease rs28933379 Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005043 p.Arg1171His Disease - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005044 p.Pro1176Leu Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005045 p.Phe1197Ser Disease - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005046 p.Ile1259Thr Disease - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005047 p.Thr1292Met Polymorphism - - APC P25054 VAR_005048 p.Ile1304Val Polymorphism - - APC P25054 VAR_005049 p.Ile1307Lys Polymorphism rs1801155 - APC P25054 VAR_005050 p.Gly1312Glu Disease - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005051 p.Thr1313Ala Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005052 p.Val1326Ala Disease - Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005053 p.Arg1348Trp Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005054 p.Asp1422His Unclassified - Colorectal tumor APC P25054 VAR_005055 p.Gly2502Ser Polymorphism rs2229995 - APC P25054 VAR_005056 p.Ser2621Cys Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005057 p.Leu2839Phe Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_008992 p.Arg1171Cys Polymorphism - - APC P25054 VAR_008993 p.Val1822Asp Polymorphism rs459552 - APC P25054 VAR_008994 p.Ile2738Thr Polymorphism - - APC P25054 VAR_009613 p.Arg99Trp Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_009614 p.Ser722Gly Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_009615 p.Glu1057Gly Unclassified - - APC P25054 VAR_009616 p.Ala1184Pro Disease - Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_009617 p.Glu1317Gln Polymorphism rs1801166 - APC P25054 VAR_012975 p.Val890Ile Unclassified - Colorectal carcinoma APC P25054 VAR_012976 p.Ala1508Val Unclassified - Colorectal carcinoma from a patient with MMRCS APC P25054 VAR_017653 p.Ala1296Val Disease - Medulloblastoma (MDB) [MIM:155255] APC P25054 VAR_017654 p.Val1472Ile Disease - Medulloblastoma (MDB) [MIM:155255] APC P25054 VAR_017655 p.Ser1495Gly Disease - Medulloblastoma (MDB) [MIM:155255] APC P25054 VAR_020141 p.Thr1496Ser Polymorphism rs2229996 - APC P25054 VAR_020142 p.Ser1973Thr Polymorphism rs4987109 - APC P25054 VAR_035794 p.Ile1254Phe Unclassified - A colorectal cancer sample APC P25054 VAR_053976 p.Pro870Ser Polymorphism rs33974176 - APC P25054 VAR_053977 p.Arg1882Thr Polymorphism rs34157245 - APC P25054 VAR_053978 p.Val2499Leu Polymorphism rs33941929 - APC P25054 VAR_065133 p.Ser1395Cys Unclassified - - APCS P02743 VAR_006054 p.Glu155Gly Polymorphism - - APCS P02743 VAR_006055 p.Ser158Gly Polymorphism - - APCS P02743 VAR_035814 p.Gly141Ser Unclassified - A breast cancer sample APEH P13798 VAR_051580 p.Thr541Met Polymorphism rs3816877 - APEX1 P27695 VAR_013455 p.Gln51His Polymorphism rs1048945 - APEX1 P27695 VAR_014823 p.Ile64Val Polymorphism rs2307486 - APEX1 P27695 VAR_019790 p.Asp148Glu Polymorphism rs1130409 - APEX2 Q9UBZ4 VAR_023390 p.Arg141Cys Polymorphism rs2301416 - APEX2 Q9UBZ4 VAR_048261 p.Arg141Trp Polymorphism rs2301416 - APEX2 Q9UBZ4 VAR_064033 p.His269Tyr Unclassified - - APEX2 Q9UBZ4 VAR_064034 p.Asn392His Unclassified - - APH1B Q8WW43 VAR_048315 p.Phe217Leu Polymorphism rs1047552 - API5 Q9BZZ5 VAR_021519 p.Pro276Ser Polymorphism - - API5 Q9BZZ5 VAR_021520 p.Met300Val Polymorphism rs5743240 - API5 Q9BZZ5 VAR_021521 p.Gly493Ser Polymorphism rs2862934 - APIP Q96GX9 VAR_026575 p.Arg7Trp Polymorphism rs2956114 - APIP Q96GX9 VAR_026576 p.His23Arg Polymorphism rs17850326 - APIP Q96GX9 VAR_026577 p.Cys76Tyr Polymorphism rs1977420 - APIP Q96GX9 VAR_026578 p.Met181Val Polymorphism rs17850327 - APLF Q8IW19 VAR_032299 p.Ile100Val Polymorphism rs11902811 - APLF Q8IW19 VAR_032300 p.Leu336Phe Polymorphism rs13404469 - APLF Q8IW19 VAR_061557 p.Ser224Thr Polymorphism rs35002937 - APLNR P35414 VAR_049375 p.Val300Ile Polymorphism rs7943508 - APLP2 Q06481 VAR_022039 p.Asp632Asn Polymorphism rs3740881 - APMAP Q9HDC9 VAR_014128 p.Ile65Val Polymorphism rs17298715 - APMAP Q9HDC9 VAR_055039 p.Arg282Gln Polymorphism rs35097515 - APMAP Q9HDC9 VAR_055040 p.Arg374Trp Polymorphism rs28364786 - APOA1BP Q8NCW5 VAR_032992 p.Val19Leu Polymorphism rs7516274 - APOA1 P02647 VAR_000605 p.Pro27His Unclassified - - APOA1 P02647 VAR_000606 p.Pro27Arg Polymorphism - - APOA1 P02647 VAR_000607 p.Pro28Arg Unclassified - - APOA1 P02647 VAR_000608 p.Arg34Leu Polymorphism rs28929476 - APOA1 P02647 VAR_000609 p.Gly50Arg Disease rs28931574 Amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA) APOA1 P02647 VAR_000610 p.Leu84Arg Disease - Amyloidosis type 8 (AMYL8) [MIM:105200] APOA1 P02647 VAR_000611 p.Asp113Glu Polymorphism - - APOA1 P02647 VAR_000612 p.Ala119Asp Unclassified - - APOA1 P02647 VAR_000613 p.Asp127Asn Unclassified - - APOA1 P02647 VAR_000615 p.Lys131Met Polymorphism rs4882 - APOA1 P02647 VAR_000616 p.Trp132Arg Unclassified - - APOA1 P02647 VAR_000617 p.Glu134Lys Unclassified - - APOA1 P02647 VAR_000618 p.Glu160Lys Unclassified - - APOA1 P02647 VAR_000619 p.Glu163Gly Polymorphism - - APOA1 P02647 VAR_000620 p.Pro167Arg Unclassified - - APOA1 P02647 VAR_000621 p.Leu168Arg Unclassified - - APOA1 P02647 VAR_000622 p.Glu171Val Polymorphism - - APOA1 P02647 VAR_000623 p.Pro189Arg Polymorphism - - APOA1 P02647 VAR_000624 p.Arg197Cys Polymorphism rs28931573 - APOA1 P02647 VAR_000625 p.Glu222Lys Unclassified - - APOA1 P02647 VAR_014609 p.Arg184Pro Polymorphism rs5078 - APOA1 P02647 VAR_016189 p.Asp126His Polymorphism rs5077 - APOA1 P02647 VAR_017017 p.Thr92Ile Polymorphism - - APOA1 P02647 VAR_021362 p.Val180Glu Unclassified - - APOA1 P02647 VAR_025445 p.Ala61Thr Polymorphism - - APOA4 P06727 VAR_000626 p.Val13Met Polymorphism - - APOA4 P06727 VAR_000627 p.Glu44Lys Unclassified - - APOA4 P06727 VAR_000628 p.Asn147Ser Polymorphism rs5104 - APOA4 P06727 VAR_000629 p.Ala161Ser Unclassified - - APOA4 P06727 VAR_000630 p.Ser178Leu Unclassified - - APOA4 P06727 VAR_000631 p.Glu185Lys Polymorphism - - APOA4 P06727 VAR_000632 p.Lys187Glu Polymorphism - - APOA4 P06727 VAR_000633 p.Glu250Lys Polymorphism - - APOA4 P06727 VAR_000634 p.Arg264Gln Polymorphism rs2238008 - APOA4 P06727 VAR_000635 p.Arg305Cys Unclassified - - APOA4 P06727 VAR_000636 p.Thr367Ser Polymorphism rs675 - APOA4 P06727 VAR_000637 p.Gln380His Polymorphism rs5110 - APOA4 P06727 VAR_014610 p.Gly74Ser Polymorphism rs5102 - APOA4 P06727 VAR_014611 p.Val307Leu Polymorphism rs5108 - APOA4 P06727 VAR_025443 p.Arg279Lys Polymorphism rs1042372 - APOA4 P06727 VAR_025444 p.Gln77His Polymorphism - - APOA5 Q6Q788 VAR_021165 p.Ser19Trp Polymorphism rs3135506 - APOA5 Q6Q788 VAR_021166 p.Val153Met Polymorphism rs3135507 - APOA5 Q6Q788 VAR_021167 p.Gly185Cys Polymorphism rs2075291 - APOA5 Q6Q788 VAR_035124 p.Asp37Glu Polymorphism rs34282181 - APOBEC1 P41238 VAR_013779 p.Met80Ile Polymorphism rs2302515 - APOBEC1 P41238 VAR_048720 p.Arg236Lys Polymorphism rs12820011 - APOBEC2 Q9Y235 VAR_024406 p.Ile136Thr Polymorphism rs2076472 - APOBEC3A P31941 VAR_048721 p.Thr19Ala Polymorphism rs17000556 - APOBEC3B Q9UH17 VAR_018142 p.Lys62Glu Polymorphism rs2076109 - APOBEC3B Q9UH17 VAR_018143 p.Pro98Leu Polymorphism rs2076110 - APOBEC3B Q9UH17 VAR_018144 p.Thr146Lys Polymorphism rs5995649 - APOBEC3B Q9UH17 VAR_033455 p.Ser109Ala Polymorphism rs17000697 - APOBEC3B Q9UH17 VAR_048722 p.Arg351His Polymorphism rs1053813 - APOBEC3F Q8IUX4 VAR_018145 p.Gln61Leu Polymorphism rs2076109 - APOBEC3F Q8IUX4 VAR_018146 p.Pro97Leu Polymorphism rs2076110 - APOBEC3F Q8IUX4 VAR_018147 p.Ala108Ser Polymorphism rs2020390 - APOBEC3F Q8IUX4 VAR_018148 p.Val231Ile Polymorphism rs2076101 - APOBEC3F Q8IUX4 VAR_025058 p.Ala178Thr Polymorphism rs34182094 - APOBEC3F Q8IUX4 VAR_025059 p.Tyr307Cys Polymorphism rs12157816 - APOBEC3F Q8IUX4 VAR_038355 p.Arg48Pro Polymorphism rs35053197 - APOBEC3G Q9HC16 VAR_017837 p.His186Arg Polymorphism rs8177832 - APOBEC3G Q9HC16 VAR_025060 p.Gln275Glu Polymorphism rs17496046 - APOBEC3G Q9HC16 VAR_048723 p.Arg256His Polymorphism rs17000736 - APOBEC3H Q6NTF7 VAR_032835 p.Arg18Leu Polymorphism rs139293 - APOBEC3H Q6NTF7 VAR_032836 p.Gly105Arg Polymorphism rs139297 - APOBEC3H Q6NTF7 VAR_032837 p.Lys121Glu Polymorphism rs139298 - APOBEC3H Q6NTF7 VAR_032838 p.Lys121Asn Polymorphism rs139299 - APOBEC3H Q6NTF7 VAR_032839 p.Glu178Asp Polymorphism rs139302 - APOBEC4 Q8WW27 VAR_026639 p.Ser75Phe Polymorphism rs16861394 - APOBEC4 Q8WW27 VAR_026640 p.Phe271Ser Polymorphism rs1174658 - APOBEC4 Q8WW27 VAR_026641 p.Pro275Ser Polymorphism rs10911391 - APOBEC4 Q8WW27 VAR_026642 p.Lys331Glu Polymorphism rs1174657 - APOBEC4 Q8WW27 VAR_026643 p.Val345Met Polymorphism rs10911390 - APOBEC4 Q8WW27 VAR_048724 p.Asp300Gly Polymorphism rs16861381 - APOB P04114 VAR_005016 p.Phe1437Leu Polymorphism rs1801697 - APOB P04114 VAR_005017 p.Asn1914Ser Polymorphism rs1801699 - APOB P04114 VAR_005018 p.His1923Arg Polymorphism rs533617 - APOB P04114 VAR_005019 p.Glu2566Lys Polymorphism rs1801696 - APOB P04114 VAR_005020 p.Pro2739Leu Polymorphism rs676210 - APOB P04114 VAR_005021 p.Ala3121Thr Polymorphism rs1801694 - APOB P04114 VAR_005022 p.Asp3319His Polymorphism - - APOB P04114 VAR_005023 p.Thr3427Lys Polymorphism - - APOB P04114 VAR_005024 p.Gln3432Glu Polymorphism rs1042023 - APOB P04114 VAR_005025 p.Arg3527Gln Disease rs5742904 Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010] APOB P04114 VAR_005026 p.Arg3558Cys Disease rs12713559 Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010] APOB P04114 VAR_005027 p.Val3921Ile Polymorphism - - APOB P04114 VAR_005028 p.Thr3945Ala Polymorphism rs1801698 - APOB P04114 VAR_005029 p.Val4128Met Polymorphism rs1801703 - APOB P04114 VAR_005030 p.Ser4338Asn Polymorphism rs1042034 - APOB P04114 VAR_005031 p.Ala4481Thr Polymorphism rs1801695 - APOB P04114 VAR_016184 p.Thr98Ile Polymorphism rs1367117 - APOB P04114 VAR_016185 p.Val733Ile Polymorphism rs1800476 - APOB P04114 VAR_016186 p.Arg3638Gln Polymorphism rs1801701 - APOB P04114 VAR_016187 p.Glu4181Lys Polymorphism rs1042031 - APOB P04114 VAR_016188 p.Arg4270Thr Polymorphism rs1801702 - APOB P04114 VAR_019827 p.Lys273Asn Polymorphism rs1126419 - APOB P04114 VAR_019828 p.Ala618Val Polymorphism rs679899 - APOB P04114 VAR_019829 p.Gln1218Glu Polymorphism rs1041956 - APOB P04114 VAR_019830 p.Leu2092Val Polymorphism rs1041960 - APOB P04114 VAR_019831 p.Ala2365Thr Polymorphism rs1041971 - APOB P04114 VAR_019832 p.Leu2680Gln Polymorphism rs1042013 - APOB P04114 VAR_019833 p.Ile3732Thr Polymorphism rs1042025 - APOB P04114 VAR_019834 p.Phe3949Leu Polymorphism rs1042027 - APOB P04114 VAR_019835 p.Tyr3964Phe Polymorphism rs1126468 - APOB P04114 VAR_020135 p.Pro554Leu Polymorphism rs12714214 - APOB P04114 VAR_020136 p.Val730Ile Polymorphism rs12691202 - APOB P04114 VAR_020137 p.Thr741Asn Polymorphism rs12714192 - APOB P04114 VAR_020138 p.Ala2456Asp Polymorphism rs12713675 - APOB P04114 VAR_020139 p.Ser3294Pro Polymorphism rs12720855 - APOB P04114 VAR_020140 p.Thr4484Met Polymorphism rs12713450 - APOB P04114 VAR_022036 p.Tyr103His Polymorphism rs9282603 - APOB P04114 VAR_022037 p.Pro145Ser Polymorphism rs6752026 - APOB P04114 VAR_022038 p.Asn2785His Polymorphism rs2163204 - APOB P04114 VAR_022610 p.Arg490Trp Disease - Familial hypobetalipoproteinemia type 1 (FHBL1) [MIM:107730] APOB P04114 VAR_022611 p.Arg1128His Polymorphism rs12713843 - APOB P04114 VAR_029341 p.Ile408Thr Polymorphism rs12714225 - APOB P04114 VAR_029342 p.Pro877Leu Polymorphism rs12714097 - APOB P04114 VAR_029343 p.Gly1086Ser Polymorphism rs12720801 - APOB P04114 VAR_029344 p.Asp1113His Polymorphism rs12713844 - APOB P04114 VAR_029345 p.Arg1388His Polymorphism rs13306187 - APOB P04114 VAR_029346 p.Asp2299His Polymorphism rs12713681 - APOB P04114 VAR_029347 p.His3182Asn Polymorphism rs12720848 - APOB P04114 VAR_029348 p.Ser3279Gly Polymorphism rs12720854 - APOB P04114 VAR_029349 p.Ser3801Thr Polymorphism rs12713540 - APOB P04114 VAR_029350 p.Val4394Ala Polymorphism rs12720843 - APOB P04114 VAR_035795 p.Phe2564Cys Unclassified - A colorectal cancer sample APOB P04114 VAR_056737 p.Thr194Met Polymorphism rs13306198 - APOB P04114 VAR_056738 p.Pro955Ser Polymorphism rs13306206 - APOB P04114 VAR_059582 p.Ile2313Val Polymorphism rs584542 - APOB P04114 VAR_061558 p.Tyr1422Cys Polymorphism rs568413 - APOBR Q0VD83 VAR_042432 p.Ala419Pro Polymorphism rs180743 - APOC1 P02654 VAR_014183 p.Ile16Met Polymorphism rs5112 - APOC1 P02654 VAR_029011 p.Thr71Ser Polymorphism - - APOC2 P02655 VAR_000639 p.Lys41Thr Polymorphism - - APOC2 P02655 VAR_000640 p.Trp48Arg Disease - Hyperlipoproteinemia type 1B (HLPP1B) [MIM:207750] APOC2 P02655 VAR_000641 p.Glu60Lys Polymorphism rs5122 - APOC2 P02655 VAR_000642 p.Lys77Gln Polymorphism rs5126 - APOC3 P02656 VAR_000643 p.Lys78Glu Disease - Hyperalphalipoproteinemia type 2 (HALP2) [MIM:614028] APOC3 P02656 VAR_000644 p.Thr94Ala Unclassified - - APOC4 P55056 VAR_012068 p.Leu96Arg Polymorphism rs5167 - APOC4 P55056 VAR_012069 p.Gln126Leu Polymorphism rs5168 - APOC4 P55056 VAR_012081 p.Leu36Pro Polymorphism rs1132899 - APOC4 P55056 VAR_012082 p.Gly52Asp Polymorphism - - APOC4 P55056 VAR_036540 p.Pro75Gln Unclassified - A breast cancer sample APOD P05090 VAR_011931 p.Phe15Ser Polymorphism rs5952 - APOD P05090 VAR_011932 p.Ser115Leu Polymorphism rs5954 - APOD P05090 VAR_011933 p.Thr178Lys Polymorphism rs5955 - APOE P02649 VAR_000645 p.Glu21Lys Polymorphism - - APOE P02649 VAR_000646 p.Glu31Lys Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] APOE P02649 VAR_000647 p.Leu46Pro Polymorphism rs769452 - APOE P02649 VAR_000648 p.Thr60Ala Polymorphism rs28931576 - APOE P02649 VAR_000649 p.Gln99Lys Polymorphism - - APOE P02649 VAR_000650 p.Pro102Arg Polymorphism rs28931578 - APOE P02649 VAR_000651 p.Ala117Thr Polymorphism rs28931577 - APOE P02649 VAR_000652 p.Cys130Arg Disease rs429358 Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] APOE P02649 VAR_000653 p.Gly145Asp Polymorphism - - APOE P02649 VAR_000655 p.Arg152Gln Polymorphism rs28931578 - APOE P02649 VAR_000656 p.Arg154Ser Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] APOE P02649 VAR_000657 p.Arg154Cys Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] APOE P02649 VAR_000658 p.Arg160Cys Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] APOE P02649 VAR_000659 p.Arg163Cys Disease rs769455 Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] APOE P02649 VAR_000660 p.Arg163His Unclassified - - APOE P02649 VAR_000661 p.Lys164Gln Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] APOE P02649 VAR_000662 p.Lys164Glu Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] APOE P02649 VAR_000663 p.Ala170Pro Polymorphism - - APOE P02649 VAR_000664 p.Arg176Cys Disease rs7412 Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] APOE P02649 VAR_000665 p.Arg242Gln Polymorphism - - APOE P02649 VAR_000666 p.Arg246Cys Polymorphism - - APOE P02649 VAR_000667 p.Val254Glu Polymorphism - - APOE P02649 VAR_000669 p.Arg269Gly Polymorphism - - APOE P02649 VAR_000670 p.Leu270Glu Polymorphism - - APOE P02649 VAR_000671 p.Arg292His Polymorphism - - APOE P02649 VAR_000672 p.Ser314Arg Polymorphism rs28931579 - APOE P02649 VAR_014114 p.Gln64His Polymorphism - - APOE P02649 VAR_016789 p.Ala124Val Polymorphism - - APOE P02649 VAR_042734 p.Arg43Cys Disease - Lipoprotein glomerulopathy (LPG) [MIM:611771] APOE P02649 VAR_042735 p.Arg163Pro Disease - Lipoprotein glomerulopathy (LPG) [MIM:611771] APOF Q13790 VAR_055520 p.Ala178Gly Polymorphism rs11575216 - APOH P02749 VAR_000673 p.Val266Leu Polymorphism rs4581 - APOH P02749 VAR_008169 p.Ser107Asn Polymorphism rs1801692 - APOH P02749 VAR_008170 p.Cys325Gly Polymorphism rs1801689 - APOH P02749 VAR_008171 p.Trp335Ser Polymorphism rs1801690 - APOH P02749 VAR_019155 p.Arg154His Polymorphism rs8178847 - APOH P02749 VAR_048316 p.Val5Ala Polymorphism rs3826358 - APOL1 O14791 VAR_011383 p.Glu150Lys Polymorphism rs2239785 - APOL1 O14791 VAR_011384 p.Met228Ile Polymorphism rs136175 - APOL1 O14791 VAR_011385 p.Arg255Lys Polymorphism rs136176 - APOL1 O14791 VAR_036568 p.Ile188Thr Unclassified - A breast cancer sample APOL1 O14791 VAR_046641 p.Asp337Asn Polymorphism rs16996616 - APOL1 O14791 VAR_061995 p.Ile384Met Disease rs60910145 Focal segmental glomerulosclerosis type 4 (FSGS4) [MIM:612551] APOL1 O14791 VAR_063598 p.Ser342Gly Disease rs73885319 Focal segmental glomerulosclerosis type 4 (FSGS4) [MIM:612551] APOL2 Q9BQE5 VAR_012978 p.Ile245Val Polymorphism rs132760 - APOL2 Q9BQE5 VAR_024366 p.Arg182Cys Polymorphism rs7285167 - APOL3 O95236 VAR_047488 p.Ala135Val Polymorphism rs6000152 - APOL3 O95236 VAR_053007 p.Ser39Arg Polymorphism rs132653 - APOL4 Q9BPW4 VAR_053008 p.Ile9Val Polymorphism rs132736 - APOL4 Q9BPW4 VAR_053009 p.Val12Leu Polymorphism rs80587 - APOL4 Q9BPW4 VAR_053010 p.Met159Val Polymorphism rs132700 - APOL4 Q9BPW4 VAR_059966 p.Arg223His Polymorphism rs2227168 - APOL4 Q9BPW4 VAR_059967 p.Ala319Glu Polymorphism rs6000173 - APOL4 Q9BPW4 VAR_059968 p.Ser326Leu Polymorphism rs6000172 - APOL5 Q9BWW9 VAR_020355 p.Thr272Met Polymorphism rs2076671 - APOL5 Q9BWW9 VAR_020356 p.Thr323Met Polymorphism rs2076672 - APOL5 Q9BWW9 VAR_020357 p.Ser406Cys Polymorphism rs2076673 - APOL5 Q9BWW9 VAR_053012 p.Glu81Lys Polymorphism rs5999985 - APOL6 Q9BWW8 VAR_053013 p.Asn173Lys Polymorphism rs5999923 - APOPT1 Q96IL0 VAR_023000 p.Pro27Ala Polymorphism rs2274268 - APOPT1 Q96IL0 VAR_033745 p.Asn88Ser Polymorphism rs35960830 - APPBP2 Q92624 VAR_052606 p.Ser561Asn Polymorphism rs34146848 - APPL1 Q9UKG1 VAR_035909 p.Glu643Gln Unclassified - A breast cancer sample APPL1 Q9UKG1 VAR_050958 p.Ala108Val Polymorphism rs4381906 - APPL1 Q9UKG1 VAR_050959 p.Glu700Gly Polymorphism rs11544593 - APPL2 Q8NEU8 VAR_021505 p.Ala433Val Polymorphism rs2272495 - APP P05067 VAR_000016 p.Ala692Gly Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_000017 p.Glu693Gln Disease - Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_000018 p.Ala713Val Unclassified rs1800557 - APP P05067 VAR_000019 p.Ala713Thr Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_000020 p.Ile716Val Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_000021 p.Val717Ile Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_000022 p.Val717Gly Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_000023 p.Val717Phe Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_010107 p.Glu665Asp Unclassified - - APP P05067 VAR_010108 p.Val715Met Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_010109 p.Leu723Pro Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_014215 p.Glu693Gly Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_014216 p.Glu693Lys Disease - Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_014217 p.Asp694Asn Disease - Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_014218 p.Thr714Ile Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_014219 p.Val717Leu Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_022315 p.Glu501Lys Polymorphism rs45588932 - APP P05067 VAR_032276 p.Leu705Val Disease - Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_032277 p.Thr714Ala Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APP P05067 VAR_044424 p.Asp678Asn Disease - Alzheimer disease type 1 (AD1) [MIM:104300] APRG1 Q8IVJ8 VAR_032538 p.His107Tyr Polymorphism rs17266511 - APRT P07741 VAR_006747 p.Asp65Val Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_006748 p.Leu110Pro Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_006749 p.Met136Thr Disease rs28999113 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_019055 p.Gln121Arg Polymorphism rs8191494 - APRT P07741 VAR_022608 p.Val150Phe Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_022609 p.Cys153Arg Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APTX Q7Z2E3 VAR_018794 p.Lys211Gln Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018795 p.Ala212Val Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018796 p.Arg213His Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018797 p.His215Arg Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018798 p.Pro220Leu Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018799 p.Val277Gly Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018800 p.Asp281Gly Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018801 p.Trp293Arg Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_025365 p.Leu237Pro Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] AQP10 Q96PS8 VAR_033519 p.Arg15Gln Polymorphism rs6668968 - AQP10 Q96PS8 VAR_050063 p.His123Tyr Polymorphism rs6685323 - AQP11 Q8NBQ7 VAR_020446 p.Gly102Ser Polymorphism rs2276415 - AQP1 P29972 VAR_004400 p.Ala45Val Polymorphism rs28362692 - AQP1 P29972 VAR_013279 p.Pro38Leu Polymorphism - - AQP1 P29972 VAR_022318 p.Gly165Asp Polymorphism rs28362731 - AQP2 P41181 VAR_004401 p.Gly64Arg Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_004402 p.Arg187Cys Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_004403 p.Ser216Pro Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015239 p.Leu22Val Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015240 p.Leu28Pro Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015241 p.Ala47Val Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015242 p.Asn68Ser Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015243 p.Val71Met Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015244 p.Thr125Met Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015245 p.Thr126Met Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015246 p.Ala147Thr Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015247 p.Val168Met Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015248 p.Gly175Arg Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015249 p.Cys181Trp Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015250 p.Pro185Ala Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015251 p.Ala190Thr Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015252 p.Val194Ile Polymorphism - - AQP2 P41181 VAR_015253 p.Trp202Cys Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015254 p.Glu258Lys Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015255 p.Pro262Leu Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015256 p.Gln57Pro Disease rs28931580 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015257 p.Gly100Val Disease rs28929477 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_037577 p.Leu121Phe Polymorphism rs11169226 - AQP2 P41181 VAR_062585 p.Ala70Asp Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062586 p.Gly100Arg Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062587 p.Gly180Ser Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062588 p.Arg187His Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062589 p.Arg254Leu Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062590 p.Arg254Gln Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] AQP3 Q92482 VAR_025089 p.Val43Met Polymorphism rs34942735 - AQP6 Q13520 VAR_047233 p.Val234Ile Polymorphism rs17124220 - AQP7 O14520 VAR_061343 p.Leu38Val Polymorphism rs2381003 - AQP7 O14520 VAR_061344 p.Lys63Thr Polymorphism rs4008658 - AQP8 O94778 VAR_021933 p.Ala260Pro Polymorphism rs2287798 - AQP8 O94778 VAR_036484 p.Ile229Met Unclassified - A breast cancer sample AQP9 O43315 VAR_024538 p.Thr279Ala Polymorphism rs1867380 - AQPEP Q6Q4G3 VAR_027059 p.Val640Phe Polymorphism rs17138632 - AQPEP Q6Q4G3 VAR_027060 p.Leu689Phe Polymorphism rs10078759 - AQPEP Q6Q4G3 VAR_027061 p.Val936Ile Polymorphism rs17138681 - ARAF P10398 VAR_040375 p.Met98Thr Polymorphism rs56197559 - ARAF P10398 VAR_040376 p.Gly331Cys Unclassified - A colorectal adenocarcinoma sample ARAF P10398 VAR_040377 p.Glu578Asp Polymorphism rs55852926 - ARAP1 Q96P48 VAR_055529 p.Arg358Gln Polymorphism rs34976830 - ARAP1 Q96P48 VAR_061023 p.Gln1047Glu Polymorphism rs56200889 - ARAP2 Q8WZ64 VAR_027952 p.Arg1523Gln Polymorphism rs4833069 - ARAP2 Q8WZ64 VAR_055530 p.Lys384Asn Polymorphism rs35468501 - ARAP2 Q8WZ64 VAR_055531 p.Phe1006Leu Polymorphism rs35218548 - ARAP3 Q8WWN8 VAR_036180 p.Arg471Trp Unclassified - A colorectal cancer sample ARAP3 Q8WWN8 VAR_036181 p.Ile1085Met Unclassified - A breast cancer sample ARAP3 Q8WWN8 VAR_036182 p.Thr1428Pro Unclassified - A breast cancer sample ARAP3 Q8WWN8 VAR_048330 p.Asp218His Polymorphism rs1031904 - ARCN1 P48444 VAR_011788 p.Phe186Leu Polymorphism rs682327 - ARCN1 P48444 VAR_011789 p.Lys309Asn Polymorphism rs1063124 - AREG P15514 VAR_018918 p.Asp80Val Polymorphism - - AREG P15514 VAR_018919 p.Tyr81Cys Polymorphism - - ARF4 P18085 VAR_048317 p.Val68Ala Polymorphism rs11550597 - ARFGAP1 Q8N6T3 VAR_015187 p.Val184Met Polymorphism rs2273499 - ARFGAP2 Q8N6H7 VAR_030780 p.Ser411Asn Polymorphism rs3740691 - ARFGAP2 Q8N6H7 VAR_048321 p.Pro143Arg Polymorphism rs11542793 - ARFGAP2 Q8N6H7 VAR_048322 p.Arg339His Polymorphism rs34662994 - ARFGAP2 Q8N6H7 VAR_048323 p.Arg406Trp Polymorphism rs35950498 - ARFGAP3 Q9NP61 VAR_013447 p.Ser355Arg Polymorphism rs1018448 - ARFGAP3 Q9NP61 VAR_036177 p.Glu290Gly Unclassified - A breast cancer sample ARFGAP3 Q9NP61 VAR_055523 p.Ser231Gly Polymorphism rs9607957 - ARFGAP3 Q9NP61 VAR_055524 p.Ser370Gly Polymorphism rs16986123 - ARFGAP3 Q9NP61 VAR_055525 p.Gln468His Polymorphism rs35498349 - ARFGAP3 Q9NP61 VAR_055526 p.Ala482Thr Polymorphism rs36003980 - ARFGAP3 Q9NP61 VAR_055527 p.Gln490Arg Polymorphism rs11551619 - ARFGEF1 Q9Y6D6 VAR_028749 p.Asp273Tyr Polymorphism rs4321984 - ARFGEF1 Q9Y6D6 VAR_036155 p.Gly316Glu Unclassified - A colorectal cancer sample ARFGEF2 Q9Y6D5 VAR_028750 p.Ala527Val Polymorphism rs6063343 - ARFGEF2 Q9Y6D5 VAR_036156 p.Lys794Glu Unclassified - A breast cancer sample ARFGEF2 Q9Y6D5 VAR_037438 p.Glu209Lys Disease rs28937880 Autosomal recessive periventricular nodular heterotopia type 2 (PVNH2) [MIM:608097] ARFGEF3 Q5TH69 VAR_032154 p.Ser689Ala Polymorphism rs7764091 - ARFGEF3 Q5TH69 VAR_032155 p.Ala1571Thr Polymorphism rs3736706 - ARFGEF3 Q5TH69 VAR_032156 p.Lys2031Arg Polymorphism rs35964895 - ARFGEF3 Q5TH69 VAR_051925 p.Glu413Asp Polymorphism rs9376338 - ARFRP1 Q13795 VAR_036559 p.Leu108Val Unclassified - A breast cancer sample ARG1 P05089 VAR_000674 p.Gly235Arg Disease - Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_000675 p.Thr290Ser Polymorphism - - ARG1 P05089 VAR_015594 p.Ile11Thr Disease rs28941474 Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_015595 p.Gly138Val Disease - Argininemia (ARGIN) [MIM:207800] ARG2 P78540 VAR_033520 p.Gly240Arg Polymorphism rs17104534 - ARGFX A6NJG6 VAR_037226 p.Arg145Gln Polymorphism rs9813391 - ARHGAP10 A1A4S6 VAR_035114 p.Met684Val Polymorphism rs2276932 - ARHGAP10 A1A4S6 VAR_049141 p.Pro488Ser Polymorphism rs17024215 - ARHGAP11A Q6P4F7 VAR_035546 p.Glu605Lys Unclassified - A breast cancer sample ARHGAP12 Q8IWW6 VAR_024454 p.Phe442Ser Polymorphism rs2808096 - ARHGAP18 Q8N392 VAR_060460 p.Thr23Ala Polymorphism rs3752536 - ARHGAP18 Q8N392 VAR_060461 p.Asn91Ser Polymorphism rs11544371 - ARHGAP18 Q8N392 VAR_060462 p.Gln165His Polymorphism rs11544372 - ARHGAP19 Q14CB8 VAR_031152 p.Gln305Arg Polymorphism rs17112598 - ARHGAP1 Q07960 VAR_049137 p.Arg369Cys Polymorphism rs11822837 - ARHGAP20 Q9P2F6 VAR_031489 p.Ala522Thr Polymorphism rs7936020 - ARHGAP20 Q9P2F6 VAR_031490 p.Gly632Asp Polymorphism rs17853925 - ARHGAP21 Q5T5U3 VAR_035187 p.Asn712Ser Polymorphism rs3748222 - ARHGAP21 Q5T5U3 VAR_035188 p.Thr1593Ala Polymorphism rs1133897 - ARHGAP21 Q5T5U3 VAR_035189 p.Val1610Ala Polymorphism rs1143051 - ARHGAP21 Q5T5U3 VAR_035190 p.Glu1628Lys Polymorphism rs1143057 - ARHGAP21 Q5T5U3 VAR_035191 p.Ala1726Thr Polymorphism rs1143075 - ARHGAP21 Q5T5U3 VAR_035192 p.Ser1949Asn Polymorphism rs1127893 - ARHGAP22 Q7Z5H3 VAR_031153 p.Thr410Lys Polymorphism rs1867586 - ARHGAP22 Q7Z5H3 VAR_031154 p.Arg612Cys Polymorphism rs3747853 - ARHGAP25 P42331 VAR_049142 p.Arg192Trp Polymorphism rs3749130 - ARHGAP25 P42331 VAR_049143 p.Arg555Ser Polymorphism rs4241344 - ARHGAP25 P42331 VAR_049144 p.Met556Thr Polymorphism rs10177248 - ARHGAP26 Q9UNA1 VAR_013623 p.Asn417Ser Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] ARHGAP27 Q6ZUM4 VAR_038551 p.His889Gln Polymorphism rs34793644 - ARHGAP28 Q9P2N2 VAR_031155 p.Thr190Ser Polymorphism rs6506448 - ARHGAP28 Q9P2N2 VAR_031156 p.Gln727Pro Polymorphism rs1056408 - ARHGAP28 Q9P2N2 VAR_055833 p.Ile168Val Polymorphism rs2303978 - ARHGAP29 Q52LW3 VAR_038552 p.Ser552Cys Unclassified - A breast cancer sample ARHGAP29 Q52LW3 VAR_038553 p.Gly1255Asp Polymorphism rs1999272 - ARHGAP29 Q52LW3 VAR_049145 p.Pro1192Leu Polymorphism rs11165091 - ARHGAP30 Q7Z6I6 VAR_031157 p.Phe70Leu Polymorphism rs17854839 - ARHGAP30 Q7Z6I6 VAR_031158 p.Leu591Val Polymorphism rs3813609 - ARHGAP31 Q2M1Z3 VAR_039122 p.Pro221Leu Polymorphism rs751793 - ARHGAP31 Q2M1Z3 VAR_039123 p.Gly803Ser Polymorphism rs3732413 - ARHGAP31 Q2M1Z3 VAR_039124 p.Ile1115Leu Polymorphism rs12107254 - ARHGAP31 Q2M1Z3 VAR_039125 p.Val1366Met Polymorphism rs3796360 - ARHGAP31 Q2M1Z3 VAR_039126 p.Thr1380Ile Polymorphism rs9852894 - ARHGAP40 Q5TG30 VAR_042892 p.Gly133Arg Polymorphism rs6100455 - ARHGAP40 Q5TG30 VAR_042893 p.Arg413Leu Polymorphism rs6070872 - ARHGAP40 Q5TG30 VAR_042894 p.His463Asn Polymorphism rs16987460 - ARHGAP44 Q17R89 VAR_031159 p.Val463Met Polymorphism rs3213688 - ARHGAP4 P98171 VAR_028413 p.Ala104Val Polymorphism rs5987182 - ARHGAP5 Q13017 VAR_043980 p.Ile17Val Polymorphism rs17386818 - ARHGAP6 O43182 VAR_024453 p.Asp791Glu Polymorphism rs1009758 - ARHGAP8 P85298 VAR_049138 p.Tyr172Cys Polymorphism rs16992915 - ARHGAP8 P85298 VAR_049139 p.Gly333Arg Polymorphism rs6007344 - ARHGAP8 P85298 VAR_049140 p.Pro415Leu Polymorphism rs2071762 - ARHGAP8 P85298 VAR_061182 p.Pro418Arg Polymorphism rs9614957 - ARHGAP9 Q9BRR9 VAR_055830 p.Arg50Gly Polymorphism rs33927108 - ARHGAP9 Q9BRR9 VAR_055831 p.Arg137Cys Polymorphism rs3802989 - ARHGAP9 Q9BRR9 VAR_055832 p.Ser370Ala Polymorphism rs11544238 - ARHGEF10L Q9HCE6 VAR_044183 p.Asp69Asn Polymorphism rs35497285 - ARHGEF10L Q9HCE6 VAR_044184 p.Ala96Val Unclassified - A colorectal cancer sample ARHGEF10L Q9HCE6 VAR_044185 p.Trp991Arg Polymorphism rs6695710 - ARHGEF10L Q9HCE6 VAR_044186 p.Ile1219Val Polymorphism rs2270976 - ARHGEF10L Q9HCE6 VAR_061794 p.Ser47Asn Polymorphism rs34417109 - ARHGEF10 O15013 VAR_019118 p.Thr357Ile Disease - Slowed nerve conduction velocity (SNCV) [MIM:608236] ARHGEF10 O15013 VAR_038603 p.Val700Ile Polymorphism rs2294039 - ARHGEF10 O15013 VAR_057188 p.Val725Ile Polymorphism rs2294039 - ARHGEF11 O15085 VAR_024285 p.His1427Arg Polymorphism rs945508 - ARHGEF11 O15085 VAR_061795 p.Ser1416Gly Polymorphism rs868188 - ARHGEF12 Q9NZN5 VAR_020191 p.Tyr973Phe Polymorphism rs2305013 - ARHGEF15 O94989 VAR_054215 p.Gly155Val Polymorphism rs17857129 - ARHGEF15 O94989 VAR_054216 p.Leu277Pro Polymorphism rs871841 - ARHGEF15 O94989 VAR_054217 p.Ser831Pro Polymorphism rs3744647 - ARHGEF15 O94989 VAR_057189 p.Pro73Ser Polymorphism rs9890841 - ARHGEF16 Q5VV41 VAR_059796 p.Val137Met Polymorphism rs3806164 - ARHGEF16 Q5VV41 VAR_059797 p.His370Tyr Polymorphism rs2185639 - ARHGEF16 Q5VV41 VAR_061796 p.Glu681Lys Polymorphism rs56309807 - ARHGEF17 Q96PE2 VAR_032132 p.Gly450Glu Polymorphism rs3741150 - ARHGEF17 Q96PE2 VAR_032133 p.Ala1465Asp Polymorphism rs2298808 - ARHGEF18 Q6ZSZ5 VAR_044066 p.Gln701Arg Polymorphism rs2287918 - ARHGEF18 Q6ZSZ5 VAR_044067 p.Arg752Gln Polymorphism rs2287920 - ARHGEF18 Q6ZSZ5 VAR_063099 p.Asn1019Ser Polymorphism rs9329368 - ARHGEF19 Q8IW93 VAR_031950 p.Gly163Arg Polymorphism rs221058 - ARHGEF19 Q8IW93 VAR_031951 p.Glu238Gln Polymorphism rs221057 - ARHGEF1 Q92888 VAR_033521 p.Pro375Leu Polymorphism rs2303797 - ARHGEF1 Q92888 VAR_035969 p.Met165Val Unclassified - A colorectal cancer sample ARHGEF25 Q86VW2 VAR_039402 p.Cys253Tyr Polymorphism rs17857333 - ARHGEF25 Q86VW2 VAR_039403 p.Gly397Arg Polymorphism rs17854492 - ARHGEF25 Q86VW2 VAR_039404 p.Gln506Arg Polymorphism rs1564374 - ARHGEF26 Q96DR7 VAR_039425 p.Val29Leu Polymorphism rs12493885 - ARHGEF26 Q96DR7 VAR_039426 p.Phe203Ser Polymorphism rs13096373 - ARHGEF26 Q96DR7 VAR_058205 p.Leu60Pro Polymorphism rs12497267 - ARHGEF28 Q8N1W1 VAR_039657 p.Arg98Met Polymorphism rs12659447 - ARHGEF28 Q8N1W1 VAR_039658 p.Trp225Arg Polymorphism rs7714670 - ARHGEF28 Q8N1W1 VAR_039659 p.Pro284Gln Polymorphism rs6453022 - ARHGEF28 Q8N1W1 VAR_039660 p.Ser544Leu Polymorphism rs2973571 - ARHGEF28 Q8N1W1 VAR_039661 p.Arg585Lys Polymorphism rs2973566 - ARHGEF28 Q8N1W1 VAR_039662 p.His780Asn Polymorphism rs2973558 - ARHGEF28 Q8N1W1 VAR_039663 p.Pro1548Ser Polymorphism rs17634865 - ARHGEF28 Q8N1W1 VAR_039664 p.His1640Gln Polymorphism rs1478453 - ARHGEF37 A1IGU5 VAR_043579 p.Met421Leu Polymorphism rs4629585 - ARHGEF37 A1IGU5 VAR_043580 p.Pro489Leu Polymorphism rs9324624 - ARHGEF37 A1IGU5 VAR_043581 p.Ser518Arg Polymorphism rs7732714 - ARHGEF37 A1IGU5 VAR_043582 p.Pro586Thr Polymorphism rs3733662 - ARHGEF37 A1IGU5 VAR_043583 p.Met604Val Polymorphism rs1135093 - ARHGEF38 Q9NXL2 VAR_038928 p.Lys67Asn Unclassified - A breast cancer sample ARHGEF38 Q9NXL2 VAR_038929 p.Met88Val Polymorphism rs2276970 - ARHGEF39 Q8N4T4 VAR_032876 p.His306Arg Polymorphism rs2297879 - ARHGEF39 Q8N4T4 VAR_061801 p.Cys5Phe Polymorphism rs45567235 - ARHGEF3 Q9NR81 VAR_021935 p.Lys13Arg Polymorphism rs3732507 - ARHGEF3 Q9NR81 VAR_021936 p.Leu335Val Polymorphism rs3772219 - ARHGEF40 Q8TER5 VAR_038061 p.Val956Leu Polymorphism rs7143633 - ARHGEF40 Q8TER5 VAR_038062 p.Leu1189Ser Polymorphism rs1958396 - ARHGEF40 Q8TER5 VAR_038063 p.Met1312Thr Polymorphism rs943992 - ARHGEF40 Q8TER5 VAR_060541 p.Thr1418Pro Polymorphism rs17855344 - ARHGEF4 Q9NR80 VAR_035970 p.Lys100Arg Unclassified - A breast cancer sample ARHGEF4 Q9NR80 VAR_035971 p.Thr441Arg Unclassified - A breast cancer sample ARHGEF4 Q9NR80 VAR_057187 p.Asp33His Polymorphism rs10188052 - ARHGEF6 Q15052 VAR_051981 p.Gln297His Polymorphism rs5974620 - ARHGEF7 Q14155 VAR_064694 p.Thr790Ala Unclassified - - ARHGEF9 O43307 VAR_028752 p.Gly55Ala Disease - Pileptic encephalopathy, early infantile, type 8 (EIEE8) [MIM:300607] ARID1A O14497 VAR_064695 p.Arg1020Lys Unclassified - - ARID1A O14497 VAR_064696 p.Leu2089Pro Unclassified - - ARID1B Q8NFD5 VAR_036257 p.Gly814Ala Unclassified - A breast cancer sample ARID3A Q99856 VAR_033203 p.Pro36His Polymorphism rs17857499 - ARID3A Q99856 VAR_033204 p.Lys320Glu Polymorphism rs17857501 - ARID3A Q99856 VAR_033205 p.Gly556Ser Polymorphism rs1051505 - ARID3C A6NKF2 VAR_043033 p.Arg310Gln Polymorphism rs12337871 - ARID3C A6NKF2 VAR_043034 p.Cys335Gly Polymorphism rs3808869 - ARID4A P29374 VAR_031566 p.His412Pro Polymorphism rs34982206 - ARID4A P29374 VAR_031567 p.Asn724Ser Polymorphism rs2230098 - ARID4A P29374 VAR_031568 p.Thr779Ala Polymorphism rs1051858 - ARIH2 O95376 VAR_054105 p.Glu24Lys Polymorphism rs11507 - ARIH2 O95376 VAR_054106 p.Glu29Asp Polymorphism rs34221642 - ARL11 Q969Q4 VAR_023742 p.Ser22Leu Polymorphism - - ARL11 Q969Q4 VAR_023743 p.Pro131Leu Polymorphism - - ARL11 Q969Q4 VAR_023744 p.Cys148Arg Polymorphism rs3803185 - ARL11 Q969Q4 VAR_023745 p.Glu164Lys Polymorphism - - ARL11 Q969Q4 VAR_048318 p.Leu120Met Polymorphism rs35712316 - ARL13B Q3SXY8 VAR_048319 p.Thr348Ser Polymorphism rs33944211 - ARL13B Q3SXY8 VAR_054371 p.Arg79Gln Disease - Joubert syndrome type 8 (JBTS8) [MIM:612291] ARL13B Q3SXY8 VAR_054372 p.Arg200Cys Disease - Joubert syndrome type 8 (JBTS8) [MIM:612291] ARL14EP Q8N8R7 VAR_033740 p.Thr180Pro Polymorphism rs7940297 - ARL14 Q8N4G2 VAR_055521 p.Asp83Asn Polymorphism rs35634980 - ARL14 Q8N4G2 VAR_055522 p.Pro117Thr Polymorphism rs35633732 - ARL16 Q0P5N6 VAR_059129 p.Ser10Arg Polymorphism rs8066889 - ARL17A Q8IVW1 VAR_017170 p.Leu170Ile Polymorphism - - ARL2BP Q9Y2Y0 VAR_053904 p.Glu87Lys Polymorphism rs7198865 - ARL2 P36404 VAR_028056 p.Val141Ala Polymorphism rs664226 - ARL3 P36405 VAR_014869 p.Leu34Met Polymorphism rs1141895 - ARL4A P40617 VAR_024367 p.Arg139Lys Polymorphism rs2953325 - ARL4D P49703 VAR_028205 p.Thr91Asn Polymorphism rs1059968 - ARL6IP4 Q66PJ3 VAR_058333 p.Lys225Arg Polymorphism rs3178165 - ARL6IP4 Q66PJ3 VAR_059583 p.Pro88Ala Polymorphism rs12825243 - ARL6 Q9H0F7 VAR_027643 p.Thr31Met Disease - Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900] ARL6 Q9H0F7 VAR_027644 p.Thr31Arg Disease - Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900] ARL6 Q9H0F7 VAR_027645 p.Gly169Ala Disease - Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900] ARL6 Q9H0F7 VAR_027646 p.Leu170Trp Disease - Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900] ARL6 Q9H0F7 VAR_064184 p.Ala89Val Disease - Retinitis pigmentosa type 55 (RP55) [MIM:613575] ARMC10 Q8N2F6 VAR_034681 p.Pro190Ser Polymorphism rs17849774 - ARMC2 Q8NEN0 VAR_031948 p.Met166Thr Polymorphism rs9386758 - ARMC2 Q8NEN0 VAR_031949 p.Asn433Asp Polymorphism rs17852775 - ARMC3 Q5W041 VAR_050669 p.Glu345Gly Polymorphism rs16922864 - ARMC3 Q5W041 VAR_050670 p.Ser608Pro Polymorphism rs11013233 - ARMC3 Q5W041 VAR_050671 p.Arg626Gln Polymorphism rs10828395 - ARMC4 Q5T2S8 VAR_033514 p.Asn935Lys Polymorphism rs35181927 - ARMC4 Q5T2S8 VAR_050672 p.Ile343Thr Polymorphism rs4405206 - ARMC4 Q5T2S8 VAR_050673 p.Ala1041Ser Polymorphism rs3737184 - ARMC5 Q96C12 VAR_050674 p.Ile170Val Polymorphism rs35923277 - ARMC9 Q7Z3E5 VAR_031170 p.Leu108Phe Polymorphism rs11558175 - ARMC9 Q7Z3E5 VAR_031171 p.Ile209Thr Polymorphism rs16827883 - ARMC9 Q7Z3E5 VAR_031172 p.Arg222His Polymorphism rs3752780 - ARMC9 Q7Z3E5 VAR_056739 p.Ile180Val Polymorphism rs1626450 - ARMCX4 Q5H9R4 VAR_024761 p.Arg188Gly Polymorphism rs5951332 - ARMS2 P0C7Q2 VAR_044330 p.Arg3His Polymorphism rs10490923 - ARMS2 P0C7Q2 VAR_044331 p.Ala69Ser Polymorphism rs10490924 - ARNT2 Q9HBZ2 VAR_049538 p.Gly679Ser Polymorphism rs4072568 - ARNTL2 Q8WYA1 VAR_030158 p.Asn340Ser Polymorphism rs1037921 - ARNTL2 Q8WYA1 VAR_030159 p.Ala574Val Polymorphism rs11049005 - ARNT P27540 VAR_014819 p.Asp511Asn Polymorphism rs1805133 - ARNT P27540 VAR_018906 p.Asp517Glu Polymorphism rs10305741 - ARNT P27540 VAR_020189 p.Pro706Leu Polymorphism rs2275237 - ARNT P27540 VAR_024280 p.Arg430Gln Polymorphism rs2229175 - ARNT P27540 VAR_049537 p.Glu435Lys Polymorphism rs2229176 - AR P10275 VAR_004679 p.Glu2Lys Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004680 p.Leu54Ser Unclassified - Prostate cancer AR P10275 VAR_004681 p.Leu57Gln Unclassified - Prostate cancer AR P10275 VAR_004684 p.Arg607Gln Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004685 p.Arg608Lys Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004686 p.Ala645Asp Polymorphism rs1800053 - AR P10275 VAR_004687 p.Ile664Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004687 p.Ile664Asn Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004688 p.Leu677Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004690 p.Asp695His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004691 p.Asp695Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004692 p.Asp695Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004693 p.Ser703Gly Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004693 p.Ser703Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004694 p.Leu707Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004695 p.Val730Met Unclassified - Prostate cancer AR P10275 VAR_004696 p.Asp732Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004697 p.Asp732Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004698 p.Met742Ile Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004699 p.Gly743Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004699 p.Gly743Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004700 p.Met749Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004700 p.Met749Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004701 p.Gly750Asp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004702 p.Arg752Gln Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004703 p.Phe754Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004704 p.Leu762Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004705 p.Tyr763Cys Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004707 p.Ala765Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004708 p.Arg774His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004708 p.Arg774His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004709 p.Arg774Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004710 p.Arg779Trp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004711 p.Met780Ile Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004711 p.Met780Ile Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004712 p.Cys784Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004713 p.Met787Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004714 p.Phe794Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004715 p.Gln798Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004715 p.Gln798Glu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004716 p.Met807Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004717 p.Met807Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004718 p.Ser814Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004718 p.Ser814Asn Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004719 p.Arg831Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004720 p.Arg831Gln Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004721 p.Arg840Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004722 p.Arg840Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004723 p.Arg840His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004724 p.Ile842Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004725 p.Arg855Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004726 p.Arg855His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004727 p.Asp864Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004728 p.Val866Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004729 p.Val866Leu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004730 p.Val866Met Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004731 p.Ile869Met Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_004732 p.Thr877Ala Unclassified - Prostate cancer AR P10275 VAR_004733 p.Pro892Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004734 p.Met895Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004735 p.Leu907Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004736 p.Pro913Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009224 p.Gln194Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009225 p.Leu255Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009226 p.Pro390Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009227 p.Pro390Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009228 p.Gln443Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009229 p.Arg840Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009711 p.Gln64Arg Unclassified - Prostate cancer AR P10275 VAR_009712 p.Gln112His Unclassified - Prostate cancer AR P10275 VAR_009713 p.Lys180Arg Unclassified - Prostate cancer AR P10275 VAR_009714 p.Ser205Arg Polymorphism - - AR P10275 VAR_009715 p.Gly214Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009716 p.Met266Thr Unclassified - Prostate cancer AR P10275 VAR_009717 p.Pro269Ser Unclassified - Prostate cancer AR P10275 VAR_009718 p.Pro340Leu Unclassified - Prostate cancer AR P10275 VAR_009719 p.Gly491Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009720 p.Asp528Gly Unclassified - Prostate cancer AR P10275 VAR_009721 p.Leu547Phe Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009722 p.Pro548Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009723 p.Cys559Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009725 p.Gly568Val Unclassified - - AR P10275 VAR_009726 p.Gly568Trp Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009727 p.Tyr571Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009728 p.Ala573Asp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009729 p.Leu574Pro Unclassified - Prostate cancer AR P10275 VAR_009730 p.Thr575Ala Unclassified - Prostate cancer AR P10275 VAR_009731 p.Cys576Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009732 p.Cys576Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009733 p.Cys579Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009734 p.Cys579Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009735 p.Lys580Arg Unclassified - Prostate cancer AR P10275 VAR_009736 p.Val581Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009737 p.Phe582Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009738 p.Phe582Tyr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009740 p.Arg585Lys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009741 p.Ala586Val Unclassified - Prostate cancer AR P10275 VAR_009742 p.Ala587Ser Unclassified - Prostate cancer AR P10275 VAR_009743 p.Ala596Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009744 p.Ser597Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009745 p.Ser597Thr Unclassified - - AR P10275 VAR_009746 p.Cys601Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009747 p.Asp604Tyr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009748 p.Asn610Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009749 p.Cys611Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009751 p.Arg615His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009751 p.Arg615His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009752 p.Arg615Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009753 p.Leu616Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009754 p.Leu616Arg Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009755 p.Arg617Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009755 p.Arg617Pro Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009756 p.Cys619Tyr Unclassified - Prostate cancer AR P10275 VAR_009757 p.Arg629Gln Unclassified - Prostate cancer AR P10275 VAR_009758 p.Lys630Thr Unclassified - Prostate cancer AR P10275 VAR_009760 p.Ser647Asn Unclassified - Prostate cancer AR P10275 VAR_009761 p.Gln670Arg Unclassified - Prostate cancer AR P10275 VAR_009762 p.Pro671His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009763 p.Ile672Thr Unclassified - Prostate cancer AR P10275 VAR_009764 p.Glu681Lys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009765 p.Gly683Ala Unclassified - Prostate cancer AR P10275 VAR_009766 p.Val684Ile Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009767 p.Cys686Arg Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009768 p.Ala687Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009769 p.Gly688Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009771 p.Leu700Met Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009772 p.Leu701Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009773 p.Leu701His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009774 p.Ser702Ala Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009775 p.Ser703Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009776 p.Asn705Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009777 p.Gly708Ala Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009778 p.Gly708Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009779 p.Arg710Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009780 p.Leu712Phe Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009781 p.Val715Met Unclassified - Prostate cancer AR P10275 VAR_009782 p.Lys717Glu Unclassified - Prostate cancer AR P10275 VAR_009783 p.Lys720Glu Unclassified - Prostate cancer AR P10275 VAR_009784 p.Ala721Thr Unclassified - Prostate cancer AR P10275 VAR_009785 p.Leu722Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009786 p.Pro723Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009787 p.Gly724Asp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009788 p.Phe725Leu Unclassified - - AR P10275 VAR_009789 p.Arg726Leu Unclassified - Prostate cancer AR P10275 VAR_009790 p.Asn727Lys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009791 p.Leu728Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009792 p.Gln733His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009793 p.Ile737Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009794 p.Trp741Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009795 p.Met742Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009796 p.Leu744Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009797 p.Met745Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009798 p.Val746Met Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009799 p.Ala748Asp Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009800 p.Ala748Thr Unclassified - Prostate cancer AR P10275 VAR_009801 p.Ala748Val Unclassified - Prostate cancer AR P10275 VAR_009802 p.Met749Ile Unclassified - Prostate cancer AR P10275 VAR_009803 p.Gly750Ser Unclassified - Prostate cancer AR P10275 VAR_009804 p.Trp751Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009805 p.Phe754Leu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009806 p.Thr755Ala Unclassified - Prostate cancer AR P10275 VAR_009807 p.Asn756Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009808 p.Val757Ala Unclassified - Prostate cancer AR P10275 VAR_009809 p.Asn758Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009810 p.Ser759Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009811 p.Ser759Pro Unclassified - Prostate cancer AR P10275 VAR_009812 p.Tyr763His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009813 p.Phe764Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009814 p.Ala765Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009815 p.Pro766Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009816 p.Asp767Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009817 p.Leu768Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009818 p.Asn771His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009819 p.Glu772Ala Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009820 p.Glu772Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009821 p.Ser782Asn Unclassified - Prostate cancer AR P10275 VAR_009822 p.Arg788Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009823 p.Leu790Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009824 p.Ser791Pro Unclassified - Prostate cancer AR P10275 VAR_009825 p.Glu793Asp Polymorphism - - AR P10275 VAR_009826 p.Cys806Tyr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009827 p.Met807Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009828 p.Leu812Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009829 p.Gly820Ala Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009830 p.Leu821Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009831 p.Leu830Pro Unclassified - Prostate cancer AR P10275 VAR_009832 p.Tyr834Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009833 p.Ile841Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009834 p.Arg846Gly Unclassified - Prostate cancer AR P10275 VAR_009835 p.Arg854Lys Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009836 p.Phe856Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009837 p.Leu863Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009838 p.Asp864Gly Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009839 p.Ser865Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009840 p.Ala870Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009841 p.Ala870Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009842 p.Arg871Gly Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009843 p.His874Tyr Unclassified - Prostate cancer AR P10275 VAR_009844 p.Thr877Ser Unclassified - Prostate cancer AR P10275 VAR_009845 p.Leu880Gln Unclassified - Prostate cancer AR P10275 VAR_009846 p.Leu881Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009847 p.Met886Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009848 p.Val889Met Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009848 p.Val889Met Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009849 p.Asp890Asn Unclassified - Prostate cancer AR P10275 VAR_009850 p.Phe891Leu Unclassified - Prostate cancer AR P10275 VAR_009851 p.Ala896Thr Unclassified - Prostate cancer AR P10275 VAR_009852 p.Ile898Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009853 p.Gln902Arg Unclassified - Prostate cancer AR P10275 VAR_009854 p.Val903Met Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009855 p.Pro904His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009856 p.Pro904Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009857 p.Gly909Glu Unclassified - Prostate cancer AR P10275 VAR_009858 p.Gly909Arg Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009859 p.Lys910Arg Unclassified - Prostate cancer AR P10275 VAR_009860 p.Val911Leu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_009861 p.Phe916Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009862 p.His917Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009863 p.Gln919Arg Unclassified - Prostate cancer AR P10275 VAR_013474 p.Pro682Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_013475 p.Asn705Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_013476 p.Gln711Glu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_013477 p.Gly743Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_013478 p.Phe827Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300] AR P10275 VAR_013479 p.His874Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_013480 p.Asp879Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] ARPC1B O15143 VAR_014477 p.Lys37Asn Polymorphism rs1045012 - ARR3 P36575 VAR_025520 p.Leu44Phe Polymorphism rs17855428 - ARRDC1 Q8N5I2 VAR_048335 p.Gly363Cys Polymorphism rs35018943 - ARRDC2 Q8TBH0 VAR_026895 p.Arg181His Polymorphism rs17852061 - ARRDC2 Q8TBH0 VAR_026896 p.Arg192His Polymorphism rs17852062 - ARRDC2 Q8TBH0 VAR_026897 p.Ala244Thr Polymorphism rs8110271 - ARRDC2 Q8TBH0 VAR_026898 p.Leu396Pro Polymorphism rs7259041 - ARRDC4 Q8NCT1 VAR_026899 p.Thr79Ala Polymorphism rs12101554 - ARRDC4 Q8NCT1 VAR_026900 p.Pro347Ser Polymorphism rs17856817 - ARRDC4 Q8NCT1 VAR_026901 p.Ser358Pro Polymorphism rs2130882 - ARSA P15289 VAR_007243 p.Leu76Pro Polymorphism rs199476362 - ARSA P15289 VAR_007244 p.Pro82Leu Disease rs6151411 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007245 p.Arg84Gln Disease rs74315458 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007246 p.Gly86Asp Disease rs74315460 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007247 p.Ser95Asn Disease rs199476363 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007248 p.Ser96Phe Disease rs74315456 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007249 p.Ser96Leu Disease rs199476371 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007250 p.Gly99Asp Disease rs74315455 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007251 p.Gly119Arg Disease rs199476364 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007252 p.Gly122Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007253 p.Leu135Pro Disease rs121434215 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007254 p.Pro136Leu Disease rs74315462 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007255 p.Asp152Tyr Disease rs199476365 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007256 p.Gly154Asp Disease rs74315463 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007257 p.Pro155Arg Disease rs74315464 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007258 p.Pro167Arg Disease rs74315465 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007259 p.Asp169Asn Disease rs74315466 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007260 p.Cys172Tyr Disease rs199476381 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007261 p.Ile179Ser Disease rs74315457 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007262 p.Trp193Cys Polymorphism rs6151415 - ARSA P15289 VAR_007263 p.Tyr201Cys Disease rs199476345 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007264 p.Ala212Val Disease rs74315467 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007265 p.Ala224Val Disease rs74315468 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007266 p.Pro231Thr Disease rs74315469 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007267 p.Arg244Cys Disease rs74315470 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007268 p.Arg244His Disease rs199476366 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007269 p.Gly245Arg Disease rs74315471 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007270 p.Ser250Tyr Disease rs199476367 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007271 p.Thr274Met Disease rs74315472 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007272 p.Arg288Cys Disease rs74315473 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007273 p.Ser295Tyr Disease rs74315474 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007274 p.Gly309Ser Disease rs74315459 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007275 p.Arg311Gln Disease rs199476382 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007276 p.Ala314Thr Disease rs199476368 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007277 p.Asp335Val Disease rs74315475 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007278 p.Asn350Ser Polymorphism rs2071421 - ARSA P15289 VAR_007279 p.Lys367Asn Disease rs199476369 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007280 p.Arg370Gln Disease rs74315477 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007281 p.Arg370Trp Disease rs74315476 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007282 p.Pro377Leu Disease rs74315478 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007283 p.Glu382Lys Disease rs74315479 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007284 p.Arg384Cys Disease rs199476370 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007285 p.Arg390Gln Disease rs199476391 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007286 p.Arg390Trp Disease rs74315480 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007287 p.Thr391Ser Polymorphism rs743616 - ARSA P15289 VAR_007288 p.His397Tyr Disease rs199476376 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007291 p.Pro426Leu Disease rs28940893 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_007292 p.Ala464Val Polymorphism - - ARSA P15289 VAR_007293 p.Arg496His Polymorphism rs6151428 - ARSA P15289 VAR_008132 p.Cys300Phe Disease rs74315484 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_008133 p.Pro425Thr Disease rs74315485 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_018838 p.Phe356Val Polymorphism rs6151422 - ARSA P15289 VAR_018839 p.Asn440Ser Polymorphism rs6151427 - ARSA P15289 VAR_054164 p.Ala18Asp Disease rs199476339 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054165 p.Asp29Asn Disease rs199476346 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054166 p.Asp30His Disease rs199476340 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054167 p.Gly32Ser Disease rs199476350 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054168 p.Leu68Pro Disease rs199476351 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054169 p.Arg84Trp Disease rs199476352 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054170 p.Pro94Ala Disease rs199476353 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054171 p.Gly99Val Disease rs74315455 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054172 p.Pro136Ser Disease rs60504011 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054174 p.Arg143Gly Disease rs199476373 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054175 p.Pro148Leu Disease rs199476375 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054176 p.Gln153His Disease rs199476377 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054177 p.Pro155Leu Disease rs74315464 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054178 p.Cys156Arg Disease rs199476348 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054179 p.Leu181Gln Disease rs199476378 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054180 p.Gln190His Disease rs199476372 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054181 p.Pro191Thr Disease rs199476374 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054182 p.Ala212Pro Disease rs199476341 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054183 p.Arg217His Disease rs148403406 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054184 p.Phe219Val Disease rs199476383 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054185 p.His227Tyr Disease rs199476354 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054186 p.Phe247Ser Disease rs199476384 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054187 p.Glu253Lys Disease rs74315483 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054188 p.Asp255His Disease rs80338819 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054189 p.Asp281Tyr Disease rs199476386 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054190 p.Asn282Ser Disease rs199476342 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054191 p.Thr286Pro Disease rs28940894 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054192 p.Arg288His Disease rs199476355 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054193 p.Gly293Asp Disease rs199476387 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054194 p.Gly293Ser Disease rs199476349 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054195 p.Cys294Tyr Disease rs199476347 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054196 p.Leu298Ser Disease rs199476389 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054197 p.Lys302Asn Disease rs199476343 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054198 p.Tyr306His Disease rs199476379 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054199 p.Gly308Asp Disease rs199476356 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054200 p.Gly308Val Disease rs199476356 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054201 p.Glu312Asp Disease rs199476390 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054202 p.Gly325Ser Disease rs148092995 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054203 p.Thr327Ile Disease - Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054204 p.Tyr376Asn Disease rs199476344 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054205 p.Asp381Glu Disease rs6151425 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054206 p.Thr408Ile Disease rs28940895 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054207 p.Thr409Ile Disease rs74315481 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054208 p.Leu428Pro Disease rs199476392 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054209 p.Tyr429Ser Disease rs199476380 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054210 p.Ala469Gly Disease rs199476385 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSA P15289 VAR_054211 p.Cys489Gly Disease rs199476388 Leukodystrophy metachromatic (MLD) [MIM:250100] ARSB P15848 VAR_007294 p.Thr92Met Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007295 p.Arg95Gln Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007296 p.Cys117Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007297 p.Gly137Val Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007298 p.Arg152Trp Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007299 p.Arg160Gln Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007300 p.Tyr210Cys Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007301 p.Leu236Pro Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007302 p.Gly302Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007303 p.Val376Met Polymorphism rs17220759 - ARSB P15848 VAR_007304 p.His393Pro Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007305 p.Cys405Tyr Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007306 p.Leu498Pro Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_016061 p.Val358Met Polymorphism rs1065757 - ARSB P15848 VAR_019017 p.Ser65Phe Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019019 p.Pro116His Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019020 p.Met142Ile Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019021 p.Gly144Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019022 p.Trp146Leu Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019023 p.Trp146Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019024 p.Trp146Ser Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019025 p.Cys192Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019026 p.Gln239Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019027 p.Trp312Cys Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019028 p.Arg315Gln Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019029 p.Leu321Pro Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019030 p.Ser384Asn Disease rs25414 Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019031 p.Phe399Leu Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019032 p.Arg484Gly Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019033 p.Cys521Tyr Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019034 p.Pro531Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] ARSB P15848 VAR_061883 p.Val358Leu Polymorphism rs1065757 - ARSD P51689 VAR_052508 p.Ser224Cys Polymorphism rs211653 - ARSD P51689 VAR_052509 p.Val500Ile Polymorphism rs2229557 - ARSD P51689 VAR_052510 p.Met564Thr Polymorphism rs2228431 - ARSE P51690 VAR_007307 p.Arg12Ser Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] ARSE P51690 VAR_007308 p.Arg111Pro Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] ARSE P51690 VAR_007309 p.Gly117Arg Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] ARSE P51690 VAR_007310 p.Gly137Val Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] ARSE P51690 VAR_007311 p.Gly245Arg Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] ARSE P51690 VAR_007312 p.Cys492Tyr Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] ARSE P51690 VAR_023570 p.Ile80Asn Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] ARSE P51690 VAR_023571 p.Thr481Met Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] ARSE P51690 VAR_023572 p.Pro578Ser Disease rs28935474 Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] ARSE P51690 VAR_037974 p.Arg183His Polymorphism rs34412194 - ARSE P51690 VAR_037975 p.Gly424Ser Polymorphism rs35143646 - ARSF P54793 VAR_058846 p.His527Tyr Polymorphism rs1052638 - ARSG Q96EG1 VAR_052511 p.Ala11Val Polymorphism rs8074806 - ARSG Q96EG1 VAR_052512 p.Thr236Ser Polymorphism rs1558876 - ARSG Q96EG1 VAR_052513 p.Trp274Arg Polymorphism rs1558878 - ARSG Q96EG1 VAR_052514 p.Arg385His Polymorphism rs9972951 - ARSJ Q5FYB0 VAR_052515 p.Ser565Arg Polymorphism rs17046588 - ARSK Q6UWY0 VAR_052516 p.Gln525Arg Polymorphism rs17084927 - ART1 P52961 VAR_034125 p.Pro105Leu Polymorphism rs35123761 - ART1 P52961 VAR_034126 p.Pro126Arg Polymorphism rs35619488 - ART1 P52961 VAR_053526 p.Leu257Pro Polymorphism rs2280134 - ART3 Q13508 VAR_060072 p.Ser363Leu Polymorphism rs1128864 - ART4 Q93070 VAR_013707 p.Gly108Val Polymorphism rs28362797 - ART4 Q93070 VAR_013708 p.Thr117Ile Polymorphism rs28362798 - ART4 Q93070 VAR_013709 p.Asn265Asp Polymorphism rs11276 - ART4 Q93070 VAR_013710 p.Leu300Val Polymorphism rs3088190 - ART4 Q93070 VAR_022266 p.Asp135Glu Polymorphism rs28362799 - ART4 Q93070 VAR_022267 p.Thr189Met Polymorphism rs28362800 - ARTN Q5T4W7 VAR_026718 p.Gln19Arg Polymorphism rs2242637 - ARV1 Q9H2C2 VAR_033525 p.Gly101Glu Polymorphism rs35764859 - ARVCF O00192 VAR_020408 p.Val175Ala Polymorphism rs2240717 - ARVCF O00192 VAR_024692 p.Arg906Gln Polymorphism rs165815 - ARVCF O00192 VAR_033529 p.Pro220Leu Polymorphism rs2073748 - ARVCF O00192 VAR_033530 p.Arg909Trp Polymorphism rs34687532 - ARVCF O00192 VAR_033531 p.Arg909Gln Polymorphism rs34638476 - ARVCF O00192 VAR_033532 p.Arg912Trp Polymorphism rs34445280 - ARVCF O00192 VAR_053812 p.Arg539Gln Polymorphism rs16982871 - ARX Q96QS3 VAR_015178 p.Arg332His Disease rs28936075 Lissencephaly X-linked type 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_015179 p.Leu343Gln Disease rs28936076 Lissencephaly X-linked type 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_015180 p.Pro353Leu Disease rs28936074 Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350] ARX Q96QS3 VAR_015669 p.Leu33Pro Disease rs28936077 Mental retardation X-linked ARX-related (MRXARX) [MIM:300419] ARX Q96QS3 VAR_015671 p.Gly286Ser Disease rs28935479 Mental retardation X-linked ARX-related (MRXARX) [MIM:300419] ARX Q96QS3 VAR_033260 p.Arg332Pro Disease - Lissencephaly X-linked type 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_033261 p.Thr333Asn Disease rs28936078 Agenesis of the corpus callosum with abnormal genitalia (ACCAG) [MIM:300004] ARX Q96QS3 VAR_033262 p.Pro353Arg Disease - Lissencephaly X-linked type 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_033263 p.Ala521Thr Disease - Lissencephaly X-linked type 2 (LISX2) [MIM:300215] AS3MT Q9HBK9 VAR_027392 p.Arg173Trp Polymorphism rs35232887 - AS3MT Q9HBK9 VAR_027393 p.Met287Thr Polymorphism rs11191439 - AS3MT Q9HBK9 VAR_027394 p.Thr306Ile Polymorphism rs34556438 - ASAH1 Q13510 VAR_008860 p.Val72Met Polymorphism rs1071645 - ASAH1 Q13510 VAR_008861 p.Ile93Val Polymorphism rs1049874 - ASAH1 Q13510 VAR_008862 p.Thr222Lys Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_021579 p.Tyr36Cys Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_021581 p.Val97Glu Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_021582 p.Glu138Val Disease rs28934273 Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_021583 p.Gly235Arg Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_021584 p.Arg254Gly Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_021585 p.Asn320Asp Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_021586 p.Pro362Arg Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_021587 p.Val369Ile Polymorphism rs17636067 - ASAH1 Q13510 VAR_038166 p.Gln22His Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_038167 p.His23Asp Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_038168 p.Asp124Glu Polymorphism rs2472205 - ASAH1 Q13510 VAR_038169 p.Leu182Val Disease - Farber lipogranulomatosis (FL) [MIM:228000] ASAH1 Q13510 VAR_038170 p.Val246Ala Polymorphism rs10103355 - ASAH1 Q13510 VAR_057979 p.Ala70Val Polymorphism rs10103355 - ASAH1 Q13510 VAR_057980 p.Val88Met Polymorphism rs1071645 - ASAH2 Q9NR71 VAR_027064 p.Thr51Ala Polymorphism rs7067625 - ASAH2 Q9NR71 VAR_027065 p.Ala346Ser Polymorphism rs993869 - ASAP1 Q9ULH1 VAR_055528 p.Ile728Val Polymorphism rs966185 - ASAP2 O43150 VAR_020307 p.Glu748Asp Polymorphism rs2715860 - ASAP3 Q8TDY4 VAR_035612 p.Ala617Thr Unclassified - A colorectal cancer sample ASAP3 Q8TDY4 VAR_048295 p.Glu377Ala Polymorphism rs16828486 - ASB10 Q8WXI3 VAR_022090 p.Arg453Cys Polymorphism rs3800791 - ASB11 Q8WXH4 VAR_048286 p.Asp249Asn Polymorphism rs34025595 - ASB11 Q8WXH4 VAR_048287 p.Ser263Gly Polymorphism rs35859007 - ASB15 Q8WXK1 VAR_060466 p.Pro57Leu Polymorphism rs6962756 - ASB15 Q8WXK1 VAR_060467 p.Gly357Ala Polymorphism rs4731112 - ASB16-AS1 Q495Z4 VAR_032127 p.Ser32Arg Polymorphism rs7217858 - ASB16-AS1 Q495Z4 VAR_061623 p.Cys114Arg Polymorphism rs7212573 - ASB16 Q96NS5 VAR_059127 p.Thr240Ile Polymorphism rs7224330 - ASB16 Q96NS5 VAR_064697 p.Thr173Pro Unclassified - - ASB17 Q8WXJ9 VAR_024174 p.Ser2Asn Polymorphism rs3795251 - ASB17 Q8WXJ9 VAR_048288 p.Val101Ala Polymorphism rs1796814 - ASB18 Q6ZVZ8 VAR_037331 p.Ala127Pro Polymorphism rs7588748 - ASB18 Q6ZVZ8 VAR_048289 p.Ala104Thr Polymorphism rs6756597 - ASB18 Q6ZVZ8 VAR_048290 p.His407Asn Polymorphism rs10177957 - ASB18 Q6ZVZ8 VAR_059128 p.Gly261Ser Polymorphism rs6431437 - ASB2 Q96Q27 VAR_022089 p.Pro160Ser Polymorphism rs2295213 - ASB4 Q9Y574 VAR_033512 p.Val17Leu Polymorphism rs35047380 - ASCC1 Q8N9N2 VAR_061278 p.Asp34Asn Polymorphism rs11558719 - ASCC2 Q9H1I8 VAR_019464 p.Arg509Gln Polymorphism rs4823054 - ASCC2 Q9H1I8 VAR_025512 p.Asp407His Polymorphism rs28265 - ASCC2 Q9H1I8 VAR_025513 p.Pro423Ser Polymorphism rs36571 - ASCC2 Q9H1I8 VAR_025514 p.Arg639Leu Polymorphism rs6006259 - ASCC2 Q9H1I8 VAR_050675 p.Arg96Cys Polymorphism rs1894473 - ASCC2 Q9H1I8 VAR_050676 p.Val123Ile Polymorphism rs11549795 - ASCC2 Q9H1I8 VAR_050677 p.Asp546Gly Polymorphism rs34833047 - ASCC2 Q9H1I8 VAR_050678 p.Glu588Lys Polymorphism rs34062345 - ASCC3 Q8N3C0 VAR_034859 p.Leu146Phe Polymorphism rs9390698 - ASCC3 Q8N3C0 VAR_034860 p.Val1050Ile Polymorphism rs9497983 - ASCC3 Q8N3C0 VAR_034861 p.Cys1800Trp Polymorphism rs35011147 - ASCC3 Q8N3C0 VAR_034862 p.Val1930Met Polymorphism rs3213542 - ASCC3 Q8N3C0 VAR_034863 p.Ser1995Cys Polymorphism rs240780 - ASCC3 Q8N3C0 VAR_034864 p.Tyr2176Cys Polymorphism rs240768 - ASCC3 Q8N3C0 VAR_049339 p.Glu344Lys Polymorphism rs6918004 - ASCC3 Q8N3C0 VAR_049340 p.Asn478Ser Polymorphism rs7750940 - ASCC3 Q8N3C0 VAR_049341 p.Val1425Ala Polymorphism rs17246013 - ASCC3 Q8N3C0 VAR_049342 p.Arg1497Thr Polymorphism rs17305382 - ASCC3 Q8N3C0 VAR_061212 p.Ser1016Cys Polymorphism rs57534235 - ASCL1 P50553 VAR_013179 p.Glu158Gly Polymorphism rs1803157 - ASCL3 Q9NQ33 VAR_055948 p.Arg54Leu Polymorphism rs4909951 - ASH1L Q9NR48 VAR_028949 p.Thr1771Ala Polymorphism rs4971053 - ASH1L Q9NR48 VAR_055905 p.Ser1416Pro Polymorphism rs13373934 - ASH2L Q9UBL3 VAR_050679 p.Ser478Phe Polymorphism rs34167006 - ASIC2 Q16515 VAR_052036 p.Asp354Gly Polymorphism rs16967895 - ASIC3 Q9UHC3 VAR_052037 p.Asn228Ser Polymorphism rs1864545 - ASIC4 Q96FT7 VAR_052038 p.Pro614Gln Polymorphism rs6436153 - ASIC4 Q96FT7 VAR_052039 p.Arg616Leu Polymorphism rs11689281 - ASIC4 Q96FT7 VAR_059806 p.Val619Ala Polymorphism rs11695248 - ASIP P42127 VAR_005003 p.Gln61Pro Polymorphism rs1129414 - ASIP P42127 VAR_022125 p.Val13Ala Polymorphism rs2296151 - ASL P04424 VAR_000676 p.Arg95Cys Disease rs28940585 Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_000677 p.Arg111Trp Disease - Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_000678 p.Arg193Gln Disease - Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_000679 p.Gln286Arg Disease rs28941472 Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_017572 p.Val178Met Disease rs28941473 Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_017573 p.Arg379Cys Disease rs28940287 Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_017574 p.Arg385Cys Disease rs28940286 Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_036281 p.Thr181Ser Unclassified - A breast cancer sample ASL P04424 VAR_036282 p.Gly200Val Unclassified - A breast cancer sample ASL P04424 VAR_043106 p.Asp31Asn Disease - Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043107 p.Arg113Gln Disease - Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043108 p.Arg186Gln Disease - Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043109 p.Arg236Trp Disease - Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043110 p.Val335Leu Disease - Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043111 p.Met382Arg Disease - Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043112 p.Arg456Trp Disease - Arginosuccinic aciduria (ARGINSA) [MIM:207900] ASMTL O95671 VAR_054802 p.Val458Met Polymorphism rs4503285 - ASMTL O95671 VAR_054803 p.Arg541Lys Polymorphism rs1127297 - ASMT P46597 VAR_045991 p.Asn17Lys Polymorphism rs17149149 - ASNA1 O43681 VAR_018844 p.Asn332Ser Polymorphism rs8177499 - ASNSD1 Q9NWL6 VAR_039876 p.Gly190Arg Polymorphism rs1437880 - ASNSD1 Q9NWL6 VAR_039877 p.Met434Thr Polymorphism rs35137531 - ASNS P08243 VAR_023443 p.Val210Glu Polymorphism rs1049674 - ASPA P45381 VAR_004995 p.Ile143Thr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_004996 p.Cys152Arg Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_004998 p.Gly274Arg Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_004999 p.Glu285Ala Disease rs28940279 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_005000 p.Phe295Ser Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_005001 p.Ala305Glu Disease rs28940574 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016778 p.His21Pro Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016779 p.Ala57Thr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016780 p.Arg168His Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016781 p.Pro181Thr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016782 p.Glu24Gly Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016783 p.Asp68Ala Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016784 p.Asp114Tyr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016785 p.Cys152Trp Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016786 p.Tyr231Cys Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016787 p.His244Arg Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016788 p.Asp249Val Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039079 p.Ile16Thr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039080 p.Gly27Arg Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039081 p.Asp114Glu Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039082 p.Gly123Glu Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039083 p.Cys152Tyr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039084 p.Arg168Cys Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039085 p.Pro183His Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039086 p.Val186Phe Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039087 p.Met195Arg Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039088 p.Pro280Leu Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039089 p.Pro280Ser Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039090 p.Ala287Thr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039091 p.Cys310Gly Polymorphism - - ASPDH A6ND91 VAR_062676 p.Gln266Arg Polymorphism rs12977172 - ASPG Q86U10 VAR_059131 p.Cys95Arg Polymorphism rs1770984 - ASPG Q86U10 VAR_059132 p.Leu96Val Polymorphism rs1744284 - ASPG Q86U10 VAR_059133 p.Ser344Arg Polymorphism rs8012505 - ASPHD2 Q6ICH7 VAR_060123 p.Asn235Ser Polymorphism rs34902186 - ASPH Q12797 VAR_053781 p.Arg354Met Polymorphism rs6995412 - ASPM Q8IZT6 VAR_019084 p.Ser2562Gly Polymorphism rs41310927 - ASPM Q8IZT6 VAR_019085 p.Leu2647Ile Polymorphism rs3762271 - ASPM Q8IZT6 VAR_019086 p.Leu3132Arg Polymorphism rs36004306 - ASPM Q8IZT6 VAR_024369 p.Arg430Gly Polymorphism rs6428388 - ASPM Q8IZT6 VAR_046758 p.Thr869Ser Polymorphism rs7551108 - ASPM Q8IZT6 VAR_046759 p.Ser1090Phe Polymorphism rs16841081 - ASPM Q8IZT6 VAR_046760 p.Tyr2494His Polymorphism rs964201 - ASPM Q8IZT6 VAR_046761 p.Gln2620His Polymorphism rs12138336 - ASPM Q8IZT6 VAR_046762 p.His3258Arg Polymorphism rs7528827 - ASPM Q8IZT6 VAR_047263 p.Ile313Val Polymorphism rs12025066 - ASPRV1 Q53RT3 VAR_051508 p.Thr49Ala Polymorphism rs3796097 - ASPSCR1 Q9BZE9 VAR_027503 p.Leu252Gln Polymorphism rs8074498 - ASPSCR1 Q9BZE9 VAR_027504 p.Asp487Glu Polymorphism rs13087 - ASPSCR1 Q9BZE9 VAR_034745 p.Val318Met Polymorphism rs34085048 - ASS1 P00966 VAR_000681 p.Gly14Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000682 p.Ser18Leu Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000683 p.Arg86Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000684 p.Ala118Thr Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000685 p.Arg157His Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000686 p.Ser180Asn Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000687 p.Ala192Val Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000688 p.Arg272Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000689 p.Gly280Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000690 p.Arg304Trp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000691 p.Gly324Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000692 p.Arg363Leu Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000693 p.Arg363Trp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000694 p.Gly390Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015891 p.Cys19Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015892 p.Arg86His Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015893 p.Arg95Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015894 p.Pro96Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015895 p.Gly117Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015896 p.Gly117Asp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015897 p.Arg157Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015898 p.Trp179Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015899 p.Glu191Lys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015900 p.Arg265His Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015901 p.Val269Met Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015902 p.Glu283Lys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015903 p.Lys310Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015904 p.Gly362Val Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016007 p.Glu270Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016008 p.Arg279Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016009 p.Lys310Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016010 p.Arg363Gly Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016011 p.Arg363Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016012 p.Thr389Ile Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016013 p.Val69Ala Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016014 p.Arg108Leu Disease rs35269064 Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016015 p.Thr119Ile Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_050427 p.Ser65Ile Polymorphism rs2229556 - ASS1 P00966 VAR_058337 p.Gln40Leu Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058338 p.Ser79Pro Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058339 p.Pro96His Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058340 p.Asp124Asn Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058341 p.Arg127Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058342 p.Arg127Trp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058343 p.Leu160Pro Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058344 p.Tyr190Asp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058345 p.Glu191Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058346 p.Ala202Glu Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058347 p.Leu206Pro Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058348 p.Val263Met Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058349 p.Arg265Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058350 p.Lys277Thr Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058351 p.Thr284Ile Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058352 p.Tyr291Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058353 p.Asp296Gly Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058354 p.Met302Val Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058355 p.Arg307Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058356 p.Gly324Val Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058357 p.Ser341Phe Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058358 p.Val345Gly Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058359 p.Gly347Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058360 p.Tyr359Asp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700] ASTL Q6HA08 VAR_033491 p.Gln222Arg Polymorphism rs749458 - ASTL Q6HA08 VAR_057063 p.Lys277Gln Polymorphism rs1657502 - ASTL Q6HA08 VAR_061734 p.Arg204His Polymorphism rs56238667 - ASTN1 O14525 VAR_036764 p.Gly1270Arg Polymorphism rs12118933 - ASTN1 O14525 VAR_055713 p.Arg1278Gly Polymorphism rs12118933 - ASTN2 O75129 VAR_036765 p.Val70Ile Polymorphism rs16933591 - ASTN2 O75129 VAR_036766 p.Arg865His Polymorphism rs3818503 - ASTN2 O75129 VAR_036767 p.Val1149Ile Polymorphism rs16933591 - ASTN2 O75129 VAR_036768 p.Val1293Leu Unclassified - A breast cancer sample ASTN2 O75129 VAR_064699 p.Ala229Val Unclassified - - Asun Q9NVM9 VAR_035673 p.Ser227Pro Unclassified - A colorectal cancer sample Asun Q9NVM9 VAR_050864 p.Met66Thr Polymorphism rs2306852 - ASXL1 Q8IXJ9 VAR_028157 p.Leu815Pro Polymorphism rs6058694 - ASXL1 Q8IXJ9 VAR_028158 p.Leu1325Phe Polymorphism rs6057581 - ASXL1 Q8IXJ9 VAR_051602 p.Val751Ile Polymorphism rs6058693 - ASXL1 Q8IXJ9 VAR_051603 p.Leu983Arg Polymorphism rs34359205 - ASXL2 Q76L83 VAR_037773 p.Leu731Pro Polymorphism rs13385963 - ASXL2 Q76L83 VAR_037774 p.Ala796Val Polymorphism rs17854251 - ASXL2 Q76L83 VAR_037775 p.Thr1210Pro Polymorphism rs12991178 - ASXL2 Q76L83 VAR_037776 p.Thr1242Pro Polymorphism rs12990978 - ASXL3 Q9C0F0 VAR_039267 p.Asn954Ser Polymorphism rs2282632 - ASXL3 Q9C0F0 VAR_039268 p.Met1415Arg Polymorphism rs16964887 - ASXL3 Q9C0F0 VAR_039269 p.Val1652Met Polymorphism rs17746949 - ASXL3 Q9C0F0 VAR_039270 p.Met1708Val Polymorphism rs7232237 - ASZ1 Q8WWH4 VAR_024175 p.Lys216Thr Polymorphism rs1029396 - ATAD1 Q8NBU5 VAR_035903 p.Val107Ile Unclassified - A colorectal cancer sample ATAD2B Q9ULI0 VAR_055467 p.Ser118Pro Polymorphism rs10210982 - ATAD2 Q6PL18 VAR_047625 p.Ile1280Thr Polymorphism rs3758122 - ATAD3A Q9NVI7 VAR_023526 p.Gly15Asp Polymorphism rs2274435 - ATAD3A Q9NVI7 VAR_055468 p.Ser101Asn Polymorphism rs1619896 - ATAD3B Q5T9A4 VAR_048120 p.Val7Ile Polymorphism rs1240504 - ATAD5 Q96QE3 VAR_038572 p.Thr35Ser Polymorphism rs9910051 - ATAD5 Q96QE3 VAR_038573 p.Pro87Ser Polymorphism rs3816780 - ATAD5 Q96QE3 VAR_038574 p.Glu135Gly Polymorphism rs11080134 - ATAD5 Q96QE3 VAR_038575 p.Arg249Lys Polymorphism rs17826219 - ATAD5 Q96QE3 VAR_038576 p.Asn699His Polymorphism rs3764421 - ATAD5 Q96QE3 VAR_038577 p.Tyr1419His Polymorphism rs11657270 - ATCAY Q86WG3 VAR_017164 p.Ser301Arg Disease - Cerebellar ataxia, cayman type (ATCAY) [MIM:601238] ATF1 P18846 VAR_024382 p.Pro191Ala Polymorphism rs2230674 - ATF2 P15336 VAR_035999 p.Asp352His Unclassified - A breast cancer sample ATF3 P18847 VAR_048442 p.Thr38Met Polymorphism rs11571541 - ATF4 P18848 VAR_014768 p.Glu322Asp Polymorphism rs1803324 - ATF4 P18848 VAR_028253 p.Gln22Pro Polymorphism rs4894 - ATF4 P18848 VAR_029259 p.Pro258Ala Polymorphism rs1803323 - ATF5 Q9Y2D1 VAR_022786 p.Pro121Leu Polymorphism rs283526 - ATF6 P18850 VAR_022455 p.Met67Leu Polymorphism rs1058405 - ATF6 P18850 VAR_022456 p.Met67Val Polymorphism rs1058405 - ATF6 P18850 VAR_022457 p.Ala145Pro Polymorphism rs2070150 - ATF6 P18850 VAR_022458 p.Pro157Ser Polymorphism rs1135983 - ATF7IP2 Q5U623 VAR_031286 p.Thr537Ile Polymorphism rs9932051 - ATF7IP2 Q5U623 VAR_031287 p.Ala543Thr Polymorphism rs9931441 - ATF7IP2 Q5U623 VAR_053872 p.Ser527Leu Polymorphism rs34834862 - ATF7IP Q6VMQ6 VAR_031283 p.Glu278Lys Polymorphism rs2231908 - ATF7IP Q6VMQ6 VAR_031284 p.Asn348Ile Polymorphism rs2231909 - ATF7IP Q6VMQ6 VAR_031285 p.Lys530Arg Polymorphism rs3213764 - ATG10 Q9H0Y0 VAR_021562 p.Thr212Met Polymorphism rs1864183 - ATG10 Q9H0Y0 VAR_021563 p.Pro220His Polymorphism rs1864182 - ATG10 Q9H0Y0 VAR_024370 p.Ser62Pro Polymorphism rs3734114 - ATG14 Q6ZNE5 VAR_049514 p.Asn131Lys Polymorphism rs17675076 - ATG14 Q6ZNE5 VAR_061240 p.Val59Ile Polymorphism rs57295720 - ATG16L1 Q676U5 VAR_021834 p.Thr300Ala Polymorphism rs2241880 - ATG16L1 Q676U5 VAR_053386 p.Glu307Lys Polymorphism rs1866878 - ATG16L2 Q8NAA4 VAR_043605 p.Arg220Trp Polymorphism rs11235604 - ATG2A Q2TAZ0 VAR_038158 p.Val175Ile Polymorphism rs12293826 - ATG2A Q2TAZ0 VAR_038159 p.Ala627Val Polymorphism rs2285347 - ATG2A Q2TAZ0 VAR_038160 p.Gly948Arg Polymorphism rs11827140 - ATG2A Q2TAZ0 VAR_061027 p.Arg394Cys Polymorphism rs35115827 - ATG2A Q2TAZ0 VAR_061028 p.Ala404Val Polymorphism rs60711419 - ATG2A Q2TAZ0 VAR_061029 p.Pro656Arg Polymorphism rs656195 - ATG2B Q96BY7 VAR_021523 p.Gln1383Glu Polymorphism rs3759601 - ATG2B Q96BY7 VAR_023096 p.Ile1567Thr Polymorphism rs2289622 - ATG2B Q96BY7 VAR_045956 p.Asn1124Asp Polymorphism rs9323945 - ATG4B Q9Y4P1 VAR_021486 p.Leu354Gln Polymorphism rs7601000 - ATG5 Q9H1Y0 VAR_036243 p.Lys58Met Unclassified - A colorectal cancer sample ATG7 O95352 VAR_053014 p.Val471Ala Polymorphism rs36117895 - ATG9A Q7Z3C6 VAR_021835 p.Ser592Gly Polymorphism rs2276635 - ATG9A Q7Z3C6 VAR_055534 p.Gln659His Polymorphism rs2276634 - ATG9B Q674R7 VAR_061030 p.Pro166Leu Polymorphism rs61078191 - ATIC P31939 VAR_019306 p.Thr116Ser Polymorphism rs2372536 - ATIC P31939 VAR_019307 p.Lys426Arg Disease - AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688] ATL1 Q8WXF7 VAR_017146 p.Arg217Gln Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_017147 p.Arg239Cys Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_017148 p.His258Arg Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_017149 p.Ser259Tyr Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_019446 p.Ala161Pro Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_019447 p.His247Pro Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_058963 p.Asp43Glu Polymorphism rs17850684 - ATL1 Q8WXF7 VAR_058964 p.Phe193Cys Polymorphism rs17850683 - ATL1 Q8WXF7 VAR_065508 p.Glu66Gln Disease - Hereditary sensory neuropathy type 1D (HSN1D) [MIM:613708] ATL1 Q8WXF7 VAR_065509 p.Leu157Trp Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_065510 p.Asn355Lys Disease - Hereditary sensory neuropathy type 1D (HSN1D) [MIM:613708] ATL1 Q8WXF7 VAR_065511 p.Met408Val Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_065512 p.Arg415Trp Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] ATL2 Q8NHH9 VAR_032265 p.Trp18Arg Polymorphism rs3731847 - ATL2 Q8NHH9 VAR_032266 p.Asn272Ser Polymorphism rs34873284 - ATL2 Q8NHH9 VAR_032267 p.Asp420His Polymorphism rs7582826 - ATMIN O43313 VAR_050681 p.Ser240Pro Polymorphism rs2278022 - ATMIN O43313 VAR_050682 p.Lys305Glu Polymorphism rs2278023 - ATM Q13315 VAR_010798 p.Ser49Cys Polymorphism rs1800054 - ATM Q13315 VAR_010799 p.Asp126Glu Polymorphism rs2234997 - ATM Q13315 VAR_010800 p.Val182Leu Polymorphism rs3218707 - ATM Q13315 VAR_010801 p.Lys224Glu Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010802 p.Pro292Leu Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010803 p.Ile323Val Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010804 p.Tyr332Cys Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010805 p.Ala350Thr Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010806 p.Ile352Thr Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010807 p.Gly514Asp Polymorphism rs2235000 - ATM Q13315 VAR_010808 p.Phe570Ser Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010810 p.Ser707Pro Polymorphism rs4986761 - ATM Q13315 VAR_010812 p.Asn768Asp Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010813 p.Arg785Cys Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010814 p.Phe858Leu Polymorphism rs1800056 - ATM Q13315 VAR_010815 p.Leu950Arg Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010816 p.Leu1001Gln Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010817 p.Met1040Val Unclassified rs3092857 B-cell non-Hodgkin lymphoma ATM Q13315 VAR_010818 p.Pro1054Arg Polymorphism rs1800057 - ATM Q13315 VAR_010819 p.His1082Leu Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010820 p.Glu1091Asp Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010821 p.Ile1407Thr Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010822 p.Leu1420Phe Polymorphism rs1800058 - ATM Q13315 VAR_010823 p.Leu1420Pro Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010824 p.Lys1454Asn Polymorphism - - ATM Q13315 VAR_010825 p.Phe1463Ser Unclassified - B-cell non-Hodgkin lymphoma ATM Q13315 VAR_010826 p.Leu1465Pro Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010827 p.Pro1566Arg Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010828 p.Val1570Ala Polymorphism - - ATM Q13315 VAR_010829 p.Asp1682His Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010830 p.Ser1691Arg Disease rs1800059 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010830 p.Ser1691Arg Disease rs1800059 B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010831 p.Thr1743Ile Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010833 p.Asp1853Asn Polymorphism rs1801516 - ATM Q13315 VAR_010834 p.Asp1853Val Polymorphism rs1801673 - ATM Q13315 VAR_010835 p.Leu1910His Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010836 p.Val1913Gly Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010837 p.Thr1953Arg Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010838 p.Asp2016Gly Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010839 p.Gly2063Glu Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010840 p.Ala2067Asp Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010841 p.Val2079Ile Polymorphism rs1800060 - ATM Q13315 VAR_010842 p.Glu2139Gly Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010843 p.Glu2164Lys Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010844 p.Ser2218Cys Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010846 p.Arg2227Cys Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010848 p.Ala2274Thr Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010849 p.Gly2287Ala Polymorphism rs1800061 - ATM Q13315 VAR_010850 p.Thr2396Ser Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010852 p.Ala2420Pro Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010853 p.Glu2423Gly Unclassified - Mantle cell lymphoma ATM Q13315 VAR_010854 p.Val2424Gly Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010854 p.Val2424Gly Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010856 p.Thr2438Ile Polymorphism - - ATM Q13315 VAR_010857 p.Gln2442Pro Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010858 p.Tyr2470Asp Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010859 p.Arg2486Gly Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010860 p.Trp2491Arg Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010862 p.His2554Asp Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010863 p.Asp2625Gln Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010865 p.Leu2656Pro Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010868 p.Glu2668Gly Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010869 p.Gly2695Ala Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010869 p.Gly2695Ala Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010870 p.Ile2702Arg Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010871 p.Leu2722Arg Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010872 p.Asp2725Gly Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010873 p.Asp2725Val Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010874 p.Ala2726Val Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010875 p.Phe2732Leu Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010876 p.Gly2765Ser Unclassified - - ATM Q13315 VAR_010878 p.Cys2824Tyr Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010879 p.Phe2827Cys Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010880 p.Pro2829Leu Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010881 p.Arg2832Cys Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010882 p.Arg2849Pro Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010883 p.Ser2855Arg Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010886 p.Gly2867Arg Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010888 p.Leu2890Val Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010889 p.Glu2904Gly Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010890 p.Arg2909Gly Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010892 p.Ala3006Pro Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010893 p.Arg3008Cys Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010894 p.Arg3008His Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_010895 p.Lys3018Asn Disease - B-cell chronic lymphocytic leukemia (BCLL) ATM Q13315 VAR_041545 p.Arg23Gln Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041546 p.Asp140His Polymorphism - - ATM Q13315 VAR_041547 p.Arg250Gln Polymorphism - - ATM Q13315 VAR_041548 p.Ser333Phe Polymorphism - - ATM Q13315 VAR_041549 p.Arg337Cys Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041550 p.Arg337His Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041551 p.Val410Ala Polymorphism - - ATM Q13315 VAR_041552 p.Asn504Ser Polymorphism - - ATM Q13315 VAR_041553 p.Cys540Tyr Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041554 p.Leu546Val Polymorphism rs2227924 - ATM Q13315 VAR_041555 p.Phe582Leu Polymorphism rs2235006 - ATM Q13315 VAR_041556 p.Glu848Gln Unclassified - A lung adenocarcinoma sample ATM Q13315 VAR_041557 p.Pro872Ser Polymorphism - - ATM Q13315 VAR_041558 p.Arg924Trp Polymorphism - - ATM Q13315 VAR_041559 p.Thr935Ala Polymorphism - - ATM Q13315 VAR_041560 p.Ser1179Phe Unclassified - A gastric adenocarcinoma sample ATM Q13315 VAR_041561 p.Met1321Ile Polymorphism - - ATM Q13315 VAR_041562 p.His1380Tyr Polymorphism - - ATM Q13315 VAR_041563 p.Pro1382Ser Polymorphism - - ATM Q13315 VAR_041564 p.Ile1469Met Unclassified - A renal papillary cancer sample ATM Q13315 VAR_041565 p.Tyr1475Cys Polymorphism - - ATM Q13315 VAR_041566 p.Asn1650Ser Polymorphism - - ATM Q13315 VAR_041567 p.Asn1739Thr Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041568 p.Met1916Ile Unclassified - A breast pleomorphic lobular carcinoma sample ATM Q13315 VAR_041569 p.Ala1945Thr Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041570 p.Tyr1961Cys Polymorphism - - ATM Q13315 VAR_041571 p.Asn1983Ser Polymorphism - - ATM Q13315 VAR_041572 p.Glu1991Asp Unclassified - A renal clear cell carcinoma sample ATM Q13315 VAR_041573 p.Leu2307Phe Polymorphism - - ATM Q13315 VAR_041574 p.Leu2332Pro Polymorphism - - ATM Q13315 VAR_041575 p.Ile2356Phe Unclassified - A renal clear cell carcinoma sample ATM Q13315 VAR_041576 p.Ser2408Leu Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041577 p.Arg2443Gln Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041578 p.Cys2464Arg Polymorphism - - ATM Q13315 VAR_041579 p.Leu2492Arg Polymorphism - - ATM Q13315 VAR_041580 p.Thr2666Ala Unclassified - A lung adenocarcinoma sample ATM Q13315 VAR_041581 p.Arg2719His Polymorphism - - ATM Q13315 VAR_041582 p.Pro2842Arg Unclassified - A lung adenocarcinoma sample ATM Q13315 VAR_041583 p.Asp2870Asn Polymorphism - - ATM Q13315 VAR_056678 p.Arg45Trp Polymorphism rs3218684 - ATM Q13315 VAR_056679 p.Thr761Ser Polymorphism rs2235011 - ATM Q13315 VAR_056680 p.Ser788Arg Polymorphism rs641252 - ATM Q13315 VAR_056681 p.Asp814Glu Polymorphism rs3218695 - ATM Q13315 VAR_056682 p.Thr935Met Polymorphism rs3218708 - ATM Q13315 VAR_056683 p.Leu942Phe Polymorphism rs3218688 - ATM Q13315 VAR_056684 p.Glu1313Gln Polymorphism rs3092841 - ATM Q13315 VAR_056685 p.Ala1427Thr Polymorphism rs2229021 - ATM Q13315 VAR_056686 p.Leu1541Phe Polymorphism rs3092849 - ATM Q13315 VAR_056687 p.Val1729Leu Polymorphism rs3092907 - ATM Q13315 VAR_056688 p.Arg2034Gln Polymorphism rs3218670 - ATM Q13315 VAR_056689 p.Thr2335Lys Polymorphism rs3092831 - ATM Q13315 VAR_056690 p.Glu2570Gly Polymorphism rs28904920 - ATM Q13315 VAR_056691 p.Thr2640Ile Polymorphism rs4988125 - ATM Q13315 VAR_056692 p.Gly2709Ser Polymorphism rs3218680 - ATN1 P54259 VAR_030937 p.Met339Ile Polymorphism rs1058045 - ATOH1 Q92858 VAR_049539 p.His237Gln Polymorphism rs35182771 - ATOH8 Q96SQ7 VAR_039582 p.Leu150Pro Polymorphism rs17851881 - ATP10A O60312 VAR_022004 p.Thr532Met Polymorphism rs2066703 - ATP10A O60312 VAR_022005 p.Ala784Thr Polymorphism rs2066704 - ATP10A O60312 VAR_022006 p.Trp1172Cys Polymorphism rs2076742 - ATP10A O60312 VAR_022007 p.Ala1179Thr Polymorphism rs2076744 - ATP10A O60312 VAR_022008 p.Ile1188Val Polymorphism rs2076745 - ATP10A O60312 VAR_022009 p.Arg1298Ser Polymorphism rs3816800 - ATP10A O60312 VAR_048380 p.Ser353Tyr Polymorphism rs17116056 - ATP10A O60312 VAR_048381 p.Glu834Lys Polymorphism rs17555920 - ATP10A O60312 VAR_048382 p.Val1198Met Polymorphism rs2076746 - ATP10A O60312 VAR_048383 p.Ala1397Val Polymorphism rs9324127 - ATP10A O60312 VAR_061038 p.Arg504His Polymorphism rs56724944 - ATP10B O94823 VAR_048384 p.Cys217Arg Polymorphism rs958912 - ATP10D Q9P241 VAR_020187 p.Val1240Ile Polymorphism rs1058793 - ATP10D Q9P241 VAR_024371 p.Ser1389Thr Polymorphism rs4145944 - ATP10D Q9P241 VAR_048385 p.Thr43Ile Polymorphism rs33995001 - ATP10D Q9P241 VAR_048386 p.Cys171Arg Polymorphism rs7683838 - ATP10D Q9P241 VAR_048387 p.Thr320Ile Polymorphism rs35596623 - ATP10D Q9P241 VAR_048388 p.Ala337Thr Polymorphism rs35012290 - ATP10D Q9P241 VAR_048389 p.Asn511Ser Polymorphism rs10003238 - ATP10D Q9P241 VAR_048390 p.Phe522Leu Polymorphism rs6843325 - ATP10D Q9P241 VAR_048391 p.Pro716Thr Polymorphism rs34208443 - ATP10D Q9P241 VAR_048392 p.Asn720Ser Polymorphism rs34169638 - ATP10D Q9P241 VAR_048393 p.Ser959Asn Polymorphism rs17462252 - ATP10D Q9P241 VAR_048394 p.Arg1183Lys Polymorphism rs16851681 - ATP10D Q9P241 VAR_048395 p.Ala1392Gly Polymorphism rs35375547 - ATP11A P98196 VAR_048379 p.Val1091Ile Polymorphism rs11616795 - ATP11A P98196 VAR_059139 p.Met317Val Polymorphism rs368865 - ATP11C Q8NB49 VAR_021827 p.Cys114Trp Polymorphism rs2491014 - ATP11C Q8NB49 VAR_036501 p.Thr157Ile Unclassified - A colorectal cancer sample ATP11C Q8NB49 VAR_036502 p.Gln931Pro Unclassified - A colorectal cancer sample ATP11C Q8NB49 VAR_055546 p.Tyr522Cys Polymorphism rs17281983 - ATP11C Q8NB49 VAR_061036 p.Val972Met Polymorphism rs55724992 - ATP12A P54707 VAR_020186 p.Pro863Leu Polymorphism rs2289909 - ATP13A2 Q9NQ11 VAR_058451 p.Thr12Met Polymorphism rs151117874 - ATP13A2 Q9NQ11 VAR_058452 p.Gly49Ser Polymorphism rs56379718 - ATP13A2 Q9NQ11 VAR_058453 p.Arg294Gln Polymorphism rs56367069 - ATP13A2 Q9NQ11 VAR_058454 p.Pro389Leu Polymorphism rs56275621 - ATP13A2 Q9NQ11 VAR_058455 p.Gly504Arg Disease rs121918227 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_058456 p.Gly533Arg Unclassified - - ATP13A2 Q9NQ11 VAR_058457 p.Val578Gly Polymorphism rs56186751 - ATP13A2 Q9NQ11 VAR_058458 p.Ala746Thr Polymorphism rs147277743 - ATP13A2 Q9NQ11 VAR_058459 p.Arg762Trp Polymorphism rs55635527 - ATP13A2 Q9NQ11 VAR_058460 p.Val776Ile Polymorphism rs56170027 - ATP13A2 Q9NQ11 VAR_058461 p.Ile946Phe Polymorphism rs55708915 - ATP13A4 Q4VNC1 VAR_038849 p.Ile181Met Polymorphism rs6788448 - ATP13A4 Q4VNC1 VAR_038850 p.Val353Ala Polymorphism - - ATP13A4 Q4VNC1 VAR_038851 p.Glu646Asp Polymorphism rs35424709 - ATP13A5 Q4VNC0 VAR_043614 p.Glu133Gln Polymorphism rs6797429 - ATP13A5 Q4VNC0 VAR_043615 p.Gly739Ser Polymorphism rs2280268 - ATP13A5 Q4VNC0 VAR_043616 p.Ile1053Val Polymorphism rs6787746 - ATP13A5 Q4VNC0 VAR_043617 p.Val1131Ala Polymorphism rs2271791 - ATP13A5 Q4VNC0 VAR_043618 p.Lys1204Gln Polymorphism rs7428010 - ATP13A5 Q4VNC0 VAR_061039 p.Ser96Tyr Polymorphism rs12637558 - ATP1A1 P05023 VAR_048374 p.Ser47Ile Polymorphism rs12564026 - ATP1A2 P50993 VAR_019934 p.Thr378Asn Disease rs28934002 Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290] ATP1A2 P50993 VAR_019935 p.Arg689Gln Disease rs28933401 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_019936 p.Met731Thr Disease rs28933400 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_019937 p.Leu764Pro Disease rs28933398 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_019938 p.Trp887Arg Disease rs28933399 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_065685 p.Gly715Arg Disease - Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] ATP1A3 P13637 VAR_026735 p.Ile274Thr Disease - Dystonia type 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026736 p.Glu277Lys Disease - Dystonia type 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026737 p.Thr613Met Disease - Dystonia type 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026738 p.Ile758Ser Disease - Dystonia type 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026739 p.Phe780Leu Disease - Dystonia type 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026740 p.Asp801Tyr Disease - Dystonia type 12 (DYT12) [MIM:128235] ATP1A4 Q13733 VAR_048375 p.Gly83Asp Polymorphism rs6427504 - ATP1A4 Q13733 VAR_048376 p.Glu297Lys Polymorphism rs17368402 - ATP1A4 Q13733 VAR_048377 p.Met541Arg Polymorphism rs16831482 - ATP1A4 Q13733 VAR_048378 p.Met586Ile Polymorphism rs7528360 - ATP1B2 P14415 VAR_030339 p.Thr199Ala Polymorphism rs2227866 - ATP1B2 P14415 VAR_061031 p.Gln124Leu Polymorphism rs34745087 - ATP1B4 Q9UN42 VAR_055535 p.Val48Ala Polymorphism rs2072452 - ATP2A1 O14983 VAR_015588 p.Pro789Leu Disease - Brody myopathy (BRM) [MIM:601003] ATP2A2 P16615 VAR_008608 p.Gly23Glu Disease rs28929478 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008609 p.Asn39Thr Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008611 p.Leu65Ser Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008612 p.Arg131Gln Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008613 p.Pro160Leu Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008614 p.Ser186Pro Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008615 p.Gly211Asp Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008616 p.Val223Met Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008617 p.Cys268Phe Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008618 p.Gly310Val Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008619 p.Cys318Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008620 p.Ile348Thr Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008621 p.Glu412Gly Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008622 p.Ser495Phe Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008623 p.Cys560Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008624 p.Phe675Ser Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008625 p.Lys683Glu Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008626 p.Asp702Asn Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008627 p.Ala745Asp Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008629 p.Ser765Leu Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008630 p.Asn767Ser Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008631 p.Gly769Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008632 p.Ala803Thr Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008633 p.Ala838Pro Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008634 p.Val843Phe Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008635 p.Cys875Gly Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008636 p.Ser920Tyr Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008637 p.His943Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008638 p.Pro975Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_009508 p.Thr357Lys Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_009509 p.Gly749Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_017532 p.Pro602Leu Disease - Acrokeratosis verruciformis (AKV) [MIM:101900] ATP2A3 Q93084 VAR_036498 p.Arg674His Unclassified - A breast cancer sample ATP2A3 Q93084 VAR_048372 p.Gln869His Polymorphism rs11654827 - ATP2B1 P20020 VAR_000698 p.Met267Arg Polymorphism - - ATP2B3 Q16720 VAR_027928 p.Ile198Met Polymorphism rs2269409 - ATP2C1 P98194 VAR_008803 p.Ala304Thr Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008804 p.Leu318Pro Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008805 p.Met641Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008806 p.Gly645Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008807 p.Thr709Met Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008808 p.Pro744Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_010130 p.Pro201Leu Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_010131 p.Cys344Tyr Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_010132 p.Thr570Ile Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_019523 p.Cys490Phe Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_019524 p.Leu584Pro Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022672 p.Gly309Cys Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022673 p.Leu341Pro Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022674 p.Cys411Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022675 p.Ile580Val Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022676 p.Asp742Tyr Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022677 p.Gly789Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_048373 p.Ala450Thr Polymorphism rs41434650 - ATP2C2 O75185 VAR_047935 p.Gly411Ser Polymorphism rs2303853 - ATP2C2 O75185 VAR_047936 p.Met466Leu Polymorphism rs247897 - ATP2C2 O75185 VAR_047937 p.Leu907Pro Polymorphism rs16973859 - ATP2C2 O75185 VAR_059137 p.Met165Leu Polymorphism rs247818 - ATP4A P20648 VAR_019428 p.Val265Ala Polymorphism rs2733743 - ATP5A1 P25705 VAR_048369 p.Ala32Ser Polymorphism rs2228437 - ATP5A1 P25705 VAR_048370 p.Ile223Val Polymorphism rs2228436 - ATP5B P06576 VAR_048371 p.Glu274Gln Polymorphism rs1042001 - ATP5F1 P24539 VAR_013176 p.Thr152Asn Polymorphism rs1264895 - ATP5F1 P24539 VAR_033534 p.Thr152Met Polymorphism rs1264895 - ATP5G2 Q06055 VAR_011920 p.Ser58Ile Polymorphism rs13819 - ATP5G2 Q06055 VAR_011921 p.Met141Lys Polymorphism rs1803177 - ATP5G3 P48201 VAR_011922 p.Gly93Glu Polymorphism rs1802622 - ATP5O P48047 VAR_011930 p.Lys98Arg Polymorphism rs4842 - ATP5SL Q9NW81 VAR_057798 p.Arg9Cys Polymorphism rs2231938 - ATP5SL Q9NW81 VAR_057799 p.His23Arg Polymorphism rs2231939 - ATP5SL Q9NW81 VAR_057800 p.Asn34Ser Polymorphism rs2231940 - ATP5SL Q9NW81 VAR_057801 p.Glu230Lys Polymorphism rs2231943 - ATP5SL Q9NW81 VAR_060165 p.Cys159Ser Polymorphism rs1043413 - ATP5S Q99766 VAR_060296 p.Pro18Leu Polymorphism rs2275592 - ATP6AP2 O75787 VAR_051313 p.Pro90Ala Polymorphism rs9014 - ATP6AP2 O75787 VAR_051314 p.Ala290Pro Polymorphism rs35798522 - ATP6V0A2 Q9Y487 VAR_042730 p.Arg685Gln Polymorphism rs7969410 - ATP6V0A2 Q9Y487 VAR_042731 p.Ala813Val Polymorphism rs17883456 - ATP6V0A4 Q9HBG4 VAR_017255 p.Pro524Leu Disease - Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_017256 p.Met580Thr Disease rs3807153 Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_017257 p.Gly820Arg Disease - Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020992 p.Val2Ala Polymorphism rs10258719 - ATP6V0A4 Q9HBG4 VAR_020993 p.Gly175Asp Disease - Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020995 p.Arg449His Disease - Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020996 p.Arg807Gln Disease rs28939081 Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] ATP6V0B Q99437 VAR_035703 p.Val155Met Unclassified - A breast cancer sample ATP6V0D2 Q8N8Y2 VAR_032039 p.Gly272Arg Polymorphism rs10094744 - ATP6V0D2 Q8N8Y2 VAR_032040 p.Glu295Lys Polymorphism rs4263741 - ATP6V1B1 P15313 VAR_007866 p.Leu81Pro Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007867 p.Arg124Trp Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007868 p.Met174Arg Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007869 p.Thr275Pro Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007870 p.Gly316Glu Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007871 p.Pro346Arg Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007872 p.Gly364Ser Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_021011 p.Thr30Ile Polymorphism rs17720303 - ATP6V1B1 P15313 VAR_021012 p.Gly123Val Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_021013 p.Arg157Cys Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_021014 p.Glu161Lys Polymorphism - - ATP6V1B1 P15313 VAR_021015 p.Arg465His Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] ATP6V1C2 Q8NEY4 VAR_032041 p.Asn143Asp Polymorphism rs1198849 - ATP6V1E1 P36543 VAR_036565 p.Arg50Gly Unclassified - A colorectal cancer sample ATP6V1F Q16864 VAR_048348 p.Gly24Val Polymorphism rs10958 - ATP6V1G3 Q96LB4 VAR_048343 p.Glu54Gln Polymorphism rs16843254 - ATP7A Q04656 VAR_000699 p.Ala629Pro Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_000700 p.Gly727Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_000701 p.Leu1006Pro Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_000702 p.Gly1019Asp Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_009999 p.Ser637Leu Disease rs28936068 Occipital horn syndrome (OHS) [MIM:304150] ATP7A Q04656 VAR_010000 p.Val767Leu Polymorphism rs2227291 - ATP7A Q04656 VAR_010001 p.Leu873Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010002 p.Gly876Glu Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010003 p.Cys1000Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010004 p.Gly1300Glu Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010005 p.Gly1302Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010006 p.Gly1302Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010007 p.Asp1305Ala Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010008 p.Ala1362Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_016119 p.Ile669Thr Polymorphism rs2234935 - ATP7A Q04656 VAR_016120 p.Arg703His Polymorphism rs2234936 - ATP7A Q04656 VAR_016121 p.Ile1464Val Polymorphism rs2234938 - ATP7A Q04656 VAR_023261 p.Leu706Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023262 p.Arg844His Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023263 p.Gly853Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023264 p.Gly860Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023265 p.Gly876Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023266 p.Gln924Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023267 p.Ala1007Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023268 p.Gly1015Asp Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023269 p.Asp1044Gly Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023270 p.Leu1100Pro Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023271 p.Gly1118Asp Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023272 p.Gly1255Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023273 p.Lys1282Glu Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023274 p.Asn1304Lys Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023275 p.Gly1315Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023276 p.Ala1325Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023277 p.Ser1344Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023278 p.Ile1345Phe Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023279 p.Gly1369Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023280 p.Ser1397Phe Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_063882 p.Thr994Ile Disease - Distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489] ATP7A Q04656 VAR_063883 p.Asn1304Ser Disease - Occipital horn syndrome (OHS) [MIM:304150] ATP7A Q04656 VAR_063884 p.Pro1386Ser Disease - Distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489] ATP7B P35670 VAR_000703 p.Gly85Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000704 p.Gly96Asp Polymorphism - - ATP7B P35670 VAR_000705 p.Ile390Val Polymorphism - - ATP7B P35670 VAR_000706 p.Ser406Ala Polymorphism rs1801243 - ATP7B P35670 VAR_000707 p.Val446Leu Polymorphism - - ATP7B P35670 VAR_000708 p.Val456Leu Polymorphism rs1801244 - ATP7B P35670 VAR_000709 p.Leu466Val Polymorphism - - ATP7B P35670 VAR_000710 p.Leu492Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000711 p.Asn565Ser Polymorphism - - ATP7B P35670 VAR_000712 p.Gly626Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000713 p.Asp642His Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000714 p.Met645Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000715 p.Met665Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000716 p.Gly691Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000717 p.Leu708Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000718 p.Gly710Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000719 p.Gly710Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000720 p.Gly711Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000721 p.Tyr713Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000722 p.Arg723Gly Polymorphism - - ATP7B P35670 VAR_000723 p.Ile747Phe Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000724 p.Asp765Asn Disease rs28942075 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000725 p.Met769Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000726 p.Leu776Val Polymorphism - - ATP7B P35670 VAR_000727 p.Arg778Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000728 p.Arg778Leu Disease rs28942074 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000729 p.Arg778Gln Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000730 p.Arg778Trp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000731 p.Leu795Phe Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000732 p.Lys832Arg Polymorphism rs1061472 - ATP7B P35670 VAR_000733 p.Pro840Leu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000734 p.Ile857Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000735 p.Val864Ile Polymorphism - - ATP7B P35670 VAR_000736 p.Gly869Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000737 p.Ala874Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000738 p.Asp918Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000739 p.Arg919Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000740 p.Arg919Trp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000741 p.Ser921Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000742 p.Thr933Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000743 p.Thr935Met Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000744 p.Gly943Asp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000745 p.Gly943Ser Disease rs28942076 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000746 p.Arg952Lys Polymorphism rs732774 - ATP7B P35670 VAR_000747 p.Arg969Gln Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000748 p.Thr977Met Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000749 p.Pro992Leu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000750 p.Val995Ala Polymorphism - - ATP7B P35670 VAR_000751 p.Ala1003Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000752 p.Ala1018Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000753 p.Gly1035Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000754 p.Arg1041Trp Unclassified - - ATP7B P35670 VAR_000755 p.Leu1043Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000756 p.Glu1064Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000757 p.Glu1064Lys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000758 p.His1069Gln Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000759 p.Leu1083Phe Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000760 p.Gly1089Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000761 p.Gly1089Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000762 p.Gly1101Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000763 p.Ile1102Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000764 p.Val1109Met Polymorphism - - ATP7B P35670 VAR_000765 p.Val1140Ala Polymorphism rs1801249 - ATP7B P35670 VAR_000766 p.Gln1142His Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000767 p.Val1146Met Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000768 p.Ile1148Thr Disease rs60431989 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000769 p.Trp1153Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000770 p.Met1169Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000771 p.Ala1183Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000772 p.Ala1183Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000773 p.Gly1186Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000774 p.Gly1186Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000775 p.Gly1213Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000776 p.Val1216Met Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000778 p.Thr1220Met Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000779 p.Asp1222Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000781 p.Gly1266Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000782 p.Asp1267Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000783 p.Asn1270Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000784 p.Pro1273Leu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000785 p.Ala1278Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000787 p.Ser1310Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000788 p.Arg1322Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000789 p.Gly1341Asp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000790 p.Trp1353Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000791 p.Ala1358Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009004 p.Arg616Gln Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009006 p.Gly711Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009007 p.Gly711Trp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009008 p.Ser744Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009009 p.Met769Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009010 p.Leu795Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009011 p.Gly869Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009012 p.Cys985Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009013 p.Ala1003Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009014 p.Thr1033Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009015 p.Arg1041Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009016 p.Pro1052Leu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009017 p.Gly1061Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009018 p.Ala1063Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009019 p.Glu1068Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009020 p.Gln1095Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009021 p.Cys1104Phe Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009022 p.Arg1151His Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009023 p.Met1169Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009024 p.Glu1173Lys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009025 p.His1207Arg Polymorphism rs7334118 - ATP7B P35670 VAR_009026 p.Val1239Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009027 p.Val1262Phe Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009028 p.Gly1266Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009029 p.Val1297Ile Polymorphism - - ATP7B P35670 VAR_009030 p.Leu1327Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009031 p.Ser1363Phe Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009032 p.Thr1434Met Disease rs60986317 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010010 p.Gly710Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010011 p.Tyr741Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010012 p.Gly891Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010013 p.Ile967Phe Disease rs60003608 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010014 p.Thr1031Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010015 p.Arg1038Lys Disease rs59959366 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010017 p.Val1106Asp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010018 p.Trp1153Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010019 p.Gly1176Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010020 p.Asp1222Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010021 p.Gly1355Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023010 p.Ala14Asp Polymorphism - - ATP7B P35670 VAR_023011 p.Asn41Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023012 p.Arg616Trp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023013 p.Leu641Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023014 p.Pro690Leu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023015 p.Ser693Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023016 p.Ser721Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023017 p.Thr737Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023018 p.Pro760Leu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023019 p.Asp765Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023020 p.Pro768His Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023021 p.Met769Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023022 p.Gly875Arg Polymorphism - - ATP7B P35670 VAR_023023 p.Val890Met Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023024 p.Gln898Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023025 p.Asp918Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023026 p.Val949Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023027 p.Ser975Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023028 p.Thr1033Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023029 p.Phe1094Leu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023030 p.Pro1098Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023031 p.Gly1099Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023032 p.Gly1111Asp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023033 p.Thr1143Asn Polymorphism - - ATP7B P35670 VAR_023034 p.Ala1168Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023035 p.Thr1232Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023036 p.Pro1245Ser Polymorphism - - ATP7B P35670 VAR_023037 p.Lys1248Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023038 p.Leu1255Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023039 p.Asp1271Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023040 p.Asp1279Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023041 p.Leu1305Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023042 p.Ile1336Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023043 p.Gly1355Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023044 p.Leu1373Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023045 p.Leu1373Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044453 p.Val290Leu Polymorphism - - ATP7B P35670 VAR_044454 p.Ala486Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044455 p.Tyr532His Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044456 p.Gly591Asp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044457 p.Ala604Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044458 p.His639Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044459 p.Ser653Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044460 p.Cys703Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044461 p.Gly710Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044462 p.Ala756Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044463 p.Thr766Met Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044464 p.Thr766Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044465 p.Leu776Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044466 p.Ala861Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044467 p.Gly875Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044468 p.Gly943Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044469 p.Gly988Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044470 p.Thr991Met Disease rs41292782 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044471 p.Pro992His Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044472 p.Met996Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044473 p.Gly1000Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044474 p.Thr1029Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044475 p.Ala1065Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044476 p.Cys1104Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044477 p.Val1106Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044478 p.Gly1176Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044480 p.Gly1221Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044481 p.Asp1222Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044482 p.Val1252Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044483 p.Gln1256Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044484 p.Asp1279Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044485 p.Gly1287Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044486 p.Asp1296Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044488 p.Tyr1331Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044489 p.Gly1341Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044490 p.Gly1341Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044491 p.Pro1352Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044492 p.Leu1368Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044493 p.Cys1375Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044494 p.Pro1379Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044495 p.Asp1407Glu Polymorphism - - ATP7B P35670 VAR_058925 p.Val536Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058926 p.Ser657Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058927 p.Ala971Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058928 p.Thr974Met Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058929 p.Gln1004Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058930 p.Gly1149Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058931 p.Asp1164Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058932 p.Glu1173Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058933 p.Arg1228Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058934 p.Ile1230Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058935 p.Asp1267Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058936 p.Ala1328Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058937 p.Met1359Ile Disease - Wilson disease (WD) [MIM:277900] ATP8A1 Q9Y2Q0 VAR_022003 p.Thr673Met Polymorphism rs3792687 - ATP8A2 Q9NTI2 VAR_055543 p.Ala1029Thr Polymorphism rs2296242 - ATP8B1 O43520 VAR_008809 p.Leu288Ser Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_008810 p.Gly308Val Disease rs28939685 Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_008812 p.Ile661Thr Disease rs28939686 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_008812 p.Ile661Thr Disease rs28939686 Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_008813 p.Gly892Arg Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_008813 p.Gly892Arg Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_015423 p.Asp554Asn Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_029271 p.His78Gln Polymorphism rs3745079 - ATP8B1 O43520 VAR_029272 p.Ile577Val Polymorphism rs3745078 - ATP8B1 O43520 VAR_029273 p.Arg952Gln Polymorphism rs12968116 - ATP8B1 O43520 VAR_036499 p.Ala886Val Unclassified - A breast cancer sample ATP8B1 O43520 VAR_036500 p.Ile1178Met Unclassified - A breast cancer sample ATP8B1 O43520 VAR_043044 p.Asn45Thr Disease - Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043045 p.Asp70Asn Unclassified rs34719006 - ATP8B1 O43520 VAR_043046 p.Leu127Pro Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043047 p.Lys203Glu Disease rs56355310 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043048 p.Phe305Ile Polymorphism - - ATP8B1 O43520 VAR_043049 p.Gly308Asp Disease rs28939685 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043050 p.Ile344Phe Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043051 p.Arg384His Polymorphism rs2271260 - ATP8B1 O43520 VAR_043052 p.Ile393Val Polymorphism rs34315917 - ATP8B1 O43520 VAR_043053 p.Ser403Tyr Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043054 p.Arg412Pro Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043055 p.Glu429Ala Polymorphism rs34018205 - ATP8B1 O43520 VAR_043056 p.Ser453Tyr Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043057 p.Asp454Gly Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043058 p.Thr456Met Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043059 p.Tyr500His Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043061 p.His535Leu Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043062 p.Ser580Asn Polymorphism rs33963153 - ATP8B1 O43520 VAR_043063 p.Arg600Gln Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043064 p.Arg600Trp Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043065 p.Arg628Trp Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043066 p.Met674Thr Polymorphism rs35470719 - ATP8B1 O43520 VAR_043067 p.Asp688Gly Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043068 p.Ile694Thr Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043069 p.Gly733Arg Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043070 p.Lys814Asn Polymorphism rs34018300 - ATP8B1 O43520 VAR_043071 p.Phe853Ser Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043072 p.Arg867Cys Disease - Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043073 p.Gly1040Arg Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_055045 p.Ala1152Thr Polymorphism rs222581 - ATP8B3 O60423 VAR_055544 p.Gly45Arg Polymorphism rs7250872 - ATP8B3 O60423 VAR_055545 p.Val618Ile Polymorphism rs8100856 - ATP8B4 Q8TF62 VAR_046962 p.Asn225Ser Polymorphism rs16963151 - ATP8B4 Q8TF62 VAR_046963 p.His452Asn Polymorphism rs2452524 - ATP8B4 Q8TF62 VAR_046964 p.Asn1165Lys Polymorphism rs16962989 - ATP8B4 Q8TF62 VAR_046965 p.Val1190Gly Polymorphism rs16962987 - ATP9B O43861 VAR_047557 p.Ser39Gly Polymorphism rs4078115 - ATP9B O43861 VAR_047558 p.Asp504Asn Polymorphism rs36034863 - ATP9B O43861 VAR_047559 p.Met732Leu Polymorphism rs585033 - ATP9B O43861 VAR_061037 p.Arg108Gln Polymorphism rs34938281 - ATPAF1 Q5TC12 VAR_038906 p.Ser62Gly Polymorphism rs11211337 - ATPAF2 Q8N5M1 VAR_023386 p.Trp94Arg Disease - Mitochondrial complex V deficiency nuclear type 1 (MC5DN1) [MIM:604273] ATPBD4 Q7L8W6 VAR_031403 p.Gly41Glu Polymorphism rs34907758 - ATPBD4 Q7L8W6 VAR_031404 p.Pro236Arg Polymorphism rs10519996 - ATRAID Q6UW56 VAR_057991 p.Ala209Ser Polymorphism rs7437 - ATRIP Q8WXE1 VAR_050683 p.Lys125Gln Polymorphism rs11925638 - ATRIP Q8WXE1 VAR_050684 p.Pro240Leu Polymorphism rs35240314 - ATRNL1 Q5VV63 VAR_043446 p.Ser989Asn Polymorphism rs1953758 - ATRN O75882 VAR_048967 p.Asp303Ala Polymorphism rs6107308 - ATRN O75882 VAR_048968 p.Ile426Thr Polymorphism rs17782078 - ATRN O75882 VAR_048969 p.Arg1152Lys Polymorphism rs3886999 - ATRN O75882 VAR_048970 p.Val1226Ile Polymorphism rs12329487 - ATR Q13535 VAR_041584 p.Thr64Ala Polymorphism rs35306038 - ATR Q13535 VAR_041585 p.His90Tyr Polymorphism rs28897763 - ATR Q13535 VAR_041586 p.Lys297Asn Polymorphism rs2229033 - ATR Q13535 VAR_041587 p.Val316Ile Polymorphism rs28897764 - ATR Q13535 VAR_041588 p.Val959Met Polymorphism rs28910271 - ATR Q13535 VAR_041589 p.Tyr1087His Polymorphism rs34253059 - ATR Q13535 VAR_041590 p.Ser1213Gly Polymorphism rs34766606 - ATR Q13535 VAR_041591 p.Ala1488Pro Unclassified - A lung squamous cell carcinoma sample ATR Q13535 VAR_041592 p.Ser1607Asn Polymorphism rs55724025 - ATR Q13535 VAR_041593 p.Asn1612Ser Polymorphism rs55894265 - ATR Q13535 VAR_041594 p.Ala2002Gly Unclassified - A lung adenocarcinoma sample ATR Q13535 VAR_041595 p.Gly2120Ala Polymorphism rs35134774 - ATR Q13535 VAR_041596 p.Tyr2132Asp Polymorphism rs28910273 - ATR Q13535 VAR_041597 p.Ser2233Ile Unclassified - A lung large cell carcinoma sample ATR Q13535 VAR_041598 p.Arg2425Gln Polymorphism rs2229032 - ATR Q13535 VAR_041599 p.Pro2434Ala Polymorphism rs33972295 - ATR Q13535 VAR_041600 p.Glu2438Lys Unclassified - A breast pleomorphic lobular carcinoma sample ATR Q13535 VAR_041601 p.Glu2537Gln Unclassified - A breast infiltrating ductal carcinoma sample ATR Q13535 VAR_050532 p.Met211Thr Polymorphism rs2227928 - ATR Q13535 VAR_050533 p.Ile1526Val Polymorphism rs34124242 - ATRX P46100 VAR_001226 p.Pro190Ala Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001227 p.Leu192Phe Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001228 p.Cys200Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001229 p.Cys220Arg Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001230 p.Trp222Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001231 p.Cys243Phe Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001232 p.Arg246Cys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001233 p.Gly249Asp Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001234 p.His1609Arg Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001235 p.Cys1614Arg Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001236 p.Lys1650Asn Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001237 p.Asn1860Ser Polymorphism rs45439799 - ATRX P46100 VAR_001238 p.Asp2035Val Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001239 p.Tyr2084His Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001240 p.Arg2131Gln Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_001241 p.Tyr2163Cys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_010914 p.Arg246Leu Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012113 p.Gly175Glu Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012115 p.Asn179Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012116 p.Pro190Leu Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012117 p.Pro190Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012118 p.Val194Ile Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012119 p.Gln219Pro Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012120 p.Gly249Cys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012121 p.Val1538Gly Unclassified - - ATRX P46100 VAR_012122 p.Val1552Phe Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012123 p.Leu1645Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012124 p.Pro1713Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012125 p.Arg1742Lys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012126 p.Tyr1847Cys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012127 p.Ile2050Thr Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_016914 p.Ser596Pro Polymorphism rs1051678 - ATRX P46100 VAR_016915 p.Glu740Gly Polymorphism rs1051680 - ATRX P46100 VAR_016916 p.Thr1621Met Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_023438 p.Gln929Glu Polymorphism rs3088074 - ATRX P46100 VAR_032625 p.Cys220Tyr Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_032626 p.Leu409Ser Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_032627 p.Arg2271Gly Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_055939 p.Gln545Glu Polymorphism rs35738915 - ATXN1L P0C7T5 VAR_044496 p.Ser313Pro Polymorphism rs7194407 - ATXN1 P54253 VAR_046616 p.His209Gln Polymorphism rs11969612 - ATXN1 P54253 VAR_046617 p.Pro753Ser Polymorphism rs16885 - ATXN2 Q99700 VAR_047629 p.Leu107Val Polymorphism rs695871 - ATXN2 Q99700 VAR_047630 p.Ser248Asn Polymorphism rs7969300 - ATXN3L Q9H3M9 VAR_029861 p.Leu266Phe Polymorphism rs16999010 - ATXN3L Q9H3M9 VAR_029862 p.Gly332Asp Polymorphism rs4830842 - ATXN3 P54252 VAR_013688 p.Val212Met Polymorphism rs1048755 - ATXN7L2 Q5T6C5 VAR_053780 p.Pro495Ser Polymorphism rs1149172 - ATXN7 O15265 VAR_011823 p.Lys264Arg Polymorphism rs1053338 - ATXN7 O15265 VAR_011824 p.Pro663Ser Polymorphism rs1053340 - ATXN7 O15265 VAR_020143 p.Val862Met Polymorphism rs3774729 - ATXN7 O15265 VAR_053779 p.Ile573Val Polymorphism rs3733124 - AUH Q13825 VAR_016911 p.Ala240Val Disease - 3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950] AUNIP Q9H7T9 VAR_031776 p.Lys82Thr Polymorphism rs34449716 - AURKAIP1 Q9NWT8 VAR_020132 p.Gln107His Polymorphism rs3736374 - AURKA O14965 VAR_030840 p.Gly11Arg Polymorphism rs6069717 - AURKA O14965 VAR_030841 p.Phe31Ile Polymorphism rs2273535 - AURKA O14965 VAR_030842 p.Val57Ile Polymorphism rs1047972 - AURKA O14965 VAR_041127 p.Pro50Leu Polymorphism rs34572020 - AURKA O14965 VAR_041128 p.Ser155Arg Unclassified - A colorectal adenocarcinoma sample AURKA O14965 VAR_041129 p.Val174Met Unclassified - A metastatic melanoma sample AURKA O14965 VAR_041130 p.Met373Val Polymorphism rs33923703 - AURKA O14965 VAR_061745 p.Ser104Leu Polymorphism rs2230743 - AURKB Q96GD4 VAR_027970 p.His100Gln Polymorphism rs3027254 - AURKB Q96GD4 VAR_027971 p.Met298Thr Polymorphism rs1059476 - AURKB Q96GD4 VAR_040383 p.Ala52Val Polymorphism - - AURKB Q96GD4 VAR_040384 p.Thr179Met Polymorphism - - AURKC Q9UQB9 VAR_040385 p.Gly52Glu Unclassified - A lung adenocarcinoma sample AURKC Q9UQB9 VAR_040386 p.Glu148Gln Unclassified - A lung squamous cell carcinoma sample AURKC Q9UQB9 VAR_040387 p.His244Gln Unclassified - A lung adenocarcinoma sample AUTS2 Q8WXX7 VAR_013864 p.Ala303Ser Polymorphism rs2293507 - AVEN Q9NQS1 VAR_020144 p.Gln228Arg Polymorphism rs2241647 - AVIL O75366 VAR_054974 p.Lys204Glu Polymorphism rs2172521 - AVL9 Q8NBF6 VAR_027083 p.Cys257Ser Polymorphism rs2290213 - AVPI1 Q5T686 VAR_031405 p.Ala41Gly Polymorphism rs2275047 - AVP P01185 VAR_004980 p.Ser17Phe Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004981 p.Ala19Thr Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004982 p.Ala19Val Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004983 p.Gly45Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004984 p.Gly48Val Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004985 p.Arg51Cys Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004986 p.Pro55Leu Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004988 p.Glu78Gly Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004989 p.Leu81Pro Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004990 p.Gly88Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004991 p.Gly88Ser Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004992 p.Cys92Ser Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004993 p.Gly93Trp Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004994 p.Gly96Cys Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_011894 p.Pro82Leu Polymorphism rs5195 - AVP P01185 VAR_011895 p.Gly119Val Polymorphism rs1051744 - AVP P01185 VAR_015262 p.Tyr21His Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015263 p.Pro26Leu Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015264 p.Cys52Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015265 p.Gly54Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015266 p.Gly54Val Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015267 p.Cys59Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015268 p.Cys59Tyr Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015269 p.Ser87Phe Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015270 p.Cys92Tyr Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015271 p.Gly96Val Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015272 p.Arg97Cys Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015273 p.Arg97Pro Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015274 p.Cys98Gly Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015275 p.Cys104Phe Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015276 p.Cys105Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015277 p.Cys116Gly Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015278 p.Cys116Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015279 p.Cys105Tyr Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019273 p.Val67Ala Disease rs28934878 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019274 p.Gly96Asp Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019275 p.Cys104Gly Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019276 p.Cys116Trp Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_029997 p.Cys58Phe Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_029998 p.Cys98Ser Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_029999 p.Ala99Pro Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVPR1A P37288 VAR_022065 p.Gly6Ser Polymorphism rs2228154 - AVPR1B P47901 VAR_025159 p.Lys65Asn Polymorphism rs35369693 - AVPR1B P47901 VAR_025160 p.Gly191Arg Polymorphism rs33990840 - AVPR1B P47901 VAR_025161 p.Ser267Gly Polymorphism - - AVPR1B P47901 VAR_025162 p.Arg364His Polymorphism rs28632197 - AVPR1B P47901 VAR_061228 p.His224Gln Polymorphism rs3891058 - AVPR2 P30518 VAR_003516 p.Thr7Ser Polymorphism rs5196 - AVPR2 P30518 VAR_003517 p.Leu44Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003519 p.Arg64Trp Polymorphism - - AVPR2 P30518 VAR_003520 p.His80Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003521 p.Val88Met Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003522 p.Arg106Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003523 p.Cys112Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003524 p.Arg113Trp Disease rs28935496 Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003525 p.Ser126Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003526 p.Tyr128Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003527 p.Ala132Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003528 p.Arg137His Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003529 p.Arg143Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003530 p.Ala147Val Polymorphism rs5200 - AVPR2 P30518 VAR_003531 p.Trp164Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003532 p.Ser167Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003533 p.Ser167Thr Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003534 p.Arg181Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003535 p.Gly185Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003536 p.Arg202Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003537 p.Arg203Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003538 p.Tyr205Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003541 p.Tyr280Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003542 p.Ala285Pro Unclassified - - AVPR2 P30518 VAR_003543 p.Pro286Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003544 p.Pro286Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003545 p.Leu292Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003546 p.Leu309Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003547 p.Asn317Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003548 p.Trp323Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_011858 p.Ala42Val Polymorphism rs5198 - AVPR2 P30518 VAR_015296 p.Gly12Glu Polymorphism rs2071126 - AVPR2 P30518 VAR_015297 p.Leu43Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015298 p.Ile46Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015299 p.Leu53Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015300 p.Asn55Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015301 p.Asn55His Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015302 p.Leu59Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015303 p.Ala61Val Polymorphism - - AVPR2 P30518 VAR_015304 p.Leu62Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015305 p.Leu81Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015306 p.Leu83Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015307 p.Leu83Gln Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015308 p.Ala84Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015309 p.Asp85Asn Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015310 p.Gln92Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015311 p.Leu94Gln Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015312 p.Pro95Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015313 p.Trp99Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015314 p.Arg104Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015315 p.Phe105Val Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015316 p.Gly107Glu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015317 p.Cys112Tyr Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015318 p.Gly122Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015319 p.Met123Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015320 p.Ser127Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015321 p.Ile130Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015322 p.Leu135Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015323 p.Arg139Ser Polymorphism - - AVPR2 P30518 VAR_015324 p.Ala163Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015325 p.Pro173Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015326 p.Gln174Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015327 p.Asp191Gly Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015328 p.Gly201Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015329 p.Thr204Asn Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015330 p.Val206Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015331 p.Thr207Asn Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015332 p.Ile209Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015333 p.Phe214Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015334 p.Val215Met Polymorphism - - AVPR2 P30518 VAR_015335 p.Pro217Thr Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015336 p.Leu219Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015337 p.Leu219Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015338 p.Arg252Trp Polymorphism - - AVPR2 P30518 VAR_015339 p.Met272Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015340 p.Val277Ala Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015341 p.Leu282Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015342 p.Pro286Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015343 p.Phe287Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015344 p.Leu289Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015345 p.Ala294Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015346 p.Leu309Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015347 p.Ser315Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015348 p.Ser318Thr Polymorphism - - AVPR2 P30518 VAR_015349 p.Cys319Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015350 p.Asn321Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015351 p.Asn321Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015352 p.Asn321Tyr Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015353 p.Pro322His Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015354 p.Pro322Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015355 p.Trp323Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015356 p.Gly352Asp Polymorphism - - AVPR2 P30518 VAR_025901 p.Arg137Cys Disease - Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] AVPR2 P30518 VAR_025902 p.Arg137Leu Disease - Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] AVPR2 P30518 VAR_035769 p.Arg247His Unclassified - A breast cancer sample AVPR2 P30518 VAR_062591 p.Gly122Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] AXDND1 Q5T1B0 VAR_031841 p.Ala742Val Polymorphism rs17369441 - AXDND1 Q5T1B0 VAR_031842 p.Glu991Gln Polymorphism rs6425573 - AXDND1 Q5T1B0 VAR_050705 p.Ile522Leu Polymorphism rs11577579 - AXDND1 Q5T1B0 VAR_050706 p.Gln993Glu Polymorphism rs6658180 - AXIN1 O15169 VAR_015589 p.Leu106Arg Disease - Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015590 p.Pro345Leu Disease - Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015591 p.Gly425Ser Disease - Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015592 p.Gly650Ser Disease - Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015593 p.Arg841Gln Polymorphism rs34015754 - AXIN2 Q9Y2T1 VAR_054860 p.Ser50Pro Unclassified rs2240308 Polymorphism associated with increased risk of lung cancer AXL P30530 VAR_041877 p.Arg499Cys Unclassified - A gastric adenocarcinoma sample AXL P30530 VAR_041878 p.Ser515Gly Polymorphism - - AXL P30530 VAR_045596 p.Thr112Met Polymorphism rs35202236 - AXL P30530 VAR_045597 p.Arg295Trp Unclassified - A lung neuroendocrine carcinoma sample AXL P30530 VAR_057990 p.Asn266Asp Polymorphism rs7249222 - AZI1 Q9UPN4 VAR_056740 p.Val43Ile Polymorphism rs8067409 - AZI1 Q9UPN4 VAR_060226 p.Ile70Val Polymorphism rs8067409 - AZI1 Q9UPN4 VAR_060227 p.Thr272Ala Polymorphism rs2466773 - AZI1 Q9UPN4 VAR_060228 p.Thr397Ala Polymorphism rs2659015 - AZI1 Q9UPN4 VAR_060229 p.Val473Ala Polymorphism rs2659016 - B2M P61769 VAR_030660 p.Ala11Pro Disease - Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600] B3GALNT1 O75752 VAR_019646 p.Glu266Ala Polymorphism rs28937582 - B3GALNT1 O75752 VAR_019647 p.Gly271Arg Unclassified - - B3GALNT1 O75752 VAR_025091 p.Asp126Asn Polymorphism rs2231257 - B3GALNT2 Q8NCR0 VAR_035860 p.Asn203Ser Unclassified - A breast cancer sample B3GALT5 Q9Y2C3 VAR_020460 p.Met85Thr Polymorphism rs3746887 - B3GALT5 Q9Y2C3 VAR_033536 p.Arg144His Polymorphism rs734411 - B3GALT5 Q9Y2C3 VAR_049347 p.Ser27Arg Polymorphism rs12627708 - B3GALT6 Q96L58 VAR_059317 p.Glu174Asp Polymorphism rs12085009 - B3GALTL Q6Y288 VAR_027849 p.Glu370Lys Polymorphism rs1041073 - B3GAT1 Q9P2W7 VAR_044538 p.Ala131Thr Polymorphism rs35434644 - B3GNT1 O43505 VAR_025019 p.Thr253Ser Polymorphism rs35429253 - B3GNT3 Q9Y2A9 VAR_022644 p.Arg328His Polymorphism rs36686 - B3GNT4 Q9C0J1 VAR_032600 p.Pro6Ala Polymorphism rs7136356 - B3GNT4 Q9C0J1 VAR_032601 p.Ser83Thr Polymorphism rs1001178 - B3GNT4 Q9C0J1 VAR_032602 p.Leu87Pro Polymorphism rs35203505 - B3GNT7 Q8NFL0 VAR_029633 p.Val233Ile Polymorphism rs2290130 - B3GNT8 Q7Z7M8 VAR_049348 p.Ser137Gly Polymorphism rs284662 - B3GNTL1 Q67FW5 VAR_032603 p.Ala341Thr Polymorphism rs7225887 - B4GALNT1 Q00973 VAR_012052 p.Leu35Val Polymorphism rs774896 - B4GALNT1 Q00973 VAR_012053 p.Gly172Arg Polymorphism rs810205 - B4GALNT1 Q00973 VAR_049237 p.Ala516Val Polymorphism rs17454674 - B4GALNT2 Q8NHY0 VAR_035990 p.Pro459His Unclassified - A colorectal cancer sample B4GALNT2 Q8NHY0 VAR_049238 p.Ala40Asp Polymorphism rs7207403 - B4GALNT2 Q8NHY0 VAR_049239 p.Cys466Arg Polymorphism rs7224888 - B4GALNT3 Q6L9W6 VAR_027842 p.Gly59Ser Polymorphism rs2075033 - B4GALNT3 Q6L9W6 VAR_027843 p.Arg265Gln Polymorphism rs11063529 - B4GALNT3 Q6L9W6 VAR_027844 p.Lys411Arg Polymorphism rs7298766 - B4GALNT3 Q6L9W6 VAR_048717 p.Arg768Gln Polymorphism rs11063570 - B4GALNT3 Q6L9W6 VAR_048718 p.Arg992His Polymorphism rs36078145 - B4GALNT4 Q76KP1 VAR_061096 p.Ala67Val Polymorphism rs34063493 - B4GALNT4 Q76KP1 VAR_061097 p.Gly88Val Polymorphism rs11822725 - B4GALT1 P15291 VAR_054019 p.Arg21Trp Polymorphism rs1065764 - B4GALT1 P15291 VAR_054020 p.His257Arg Polymorphism rs9169 - B4GALT2 O60909 VAR_020487 p.Gln122His Polymorphism rs1859728 - B4GALT2 O60909 VAR_054021 p.Gly338Arg Polymorphism rs35904809 - B4GALT4 O60513 VAR_022697 p.Gln116Glu Polymorphism rs3764779 - B4GALT5 O43286 VAR_024468 p.Gly61Ser Polymorphism rs2273086 - B4GALT5 O43286 VAR_033538 p.Tyr371Asp Polymorphism rs35195217 - B4GALT5 O43286 VAR_054022 p.Asp368Asn Polymorphism rs235035 - B4GALT6 Q9UBX8 VAR_054023 p.Ile379Val Polymorphism rs34683195 - B4GALT7 Q9UBV7 VAR_010293 p.Ala186Asp Disease - Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070] B4GALT7 Q9UBV7 VAR_010294 p.Leu206Pro Disease - Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070] B9D2 Q9BPU9 VAR_036626 p.Ser101Arg Disease - Meckel syndrome type 10 (MKS10) [MIM:614175] BAALC Q8WXS3 VAR_056741 p.Ser164Thr Polymorphism rs34542607 - BAAT Q14032 VAR_023737 p.Met76Val Disease rs28937579 Familial hypercholanemia (FHCA) [MIM:607748] BAAT Q14032 VAR_052303 p.Arg20Gln Polymorphism rs1572983 - BACE1 P56817 VAR_051509 p.Cys481Arg Polymorphism rs539765 - BACE1 P56817 VAR_060692 p.Val265Ala Polymorphism - - BACH1 O14867 VAR_048441 p.Ser314Pro Polymorphism rs35474725 - BACH2 Q9BYV9 VAR_033535 p.Ala418Thr Polymorphism rs34335140 - BAD Q92934 VAR_015380 p.Ala107Ser Polymorphism rs3729933 - BAG3 O95817 VAR_048344 p.Arg71Gln Polymorphism rs35434411 - BAG3 O95817 VAR_048345 p.Cys151Arg Polymorphism rs2234962 - BAG3 O95817 VAR_048346 p.Ala405Val Polymorphism rs11199064 - BAG3 O95817 VAR_048347 p.Pro407Leu Polymorphism rs3858340 - BAG3 O95817 VAR_063089 p.Pro209Leu Disease rs121918312 Myopathy myofibrillar type 6 (MFM6) [MIM:612954] BAG3 O95817 VAR_065479 p.Arg71Trp Disease - Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_065480 p.Arg477His Disease - Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881] BAG5 Q9UL15 VAR_058712 p.Cys157Trp Polymorphism rs17854644 - BAG6 P46379 VAR_023531 p.Ser625Pro Polymorphism rs1052486 - BAG6 P46379 VAR_037150 p.Ala728Val Polymorphism rs11548856 - BAGE2 Q86Y30 VAR_059585 p.Arg95Thr Polymorphism rs2740327 - BAGE2 Q86Y30 VAR_059586 p.Arg106Gln Polymorphism rs9808647 - BAGE3 Q86Y29 VAR_059587 p.Arg95Thr Polymorphism rs2740327 - BAGE3 Q86Y29 VAR_059588 p.Gln106Arg Polymorphism rs9808647 - BAHCC1 Q9P281 VAR_050685 p.Arg2479Cys Polymorphism rs8746 - BAHCC1 Q9P281 VAR_059589 p.Thr1137Ala Polymorphism rs7213444 - BAHCC1 Q9P281 VAR_061559 p.Ala272Thr Polymorphism rs12952981 - BAHCC1 Q9P281 VAR_061560 p.Arg1403Gln Polymorphism rs35572189 - BAHCC1 Q9P281 VAR_061561 p.Thr1647Ala Polymorphism rs12601317 - BAHCC1 Q9P281 VAR_061562 p.Val1998Ile Polymorphism rs34680524 - BAHD1 Q8TBE0 VAR_032359 p.Glu26Gly Polymorphism rs3743143 - BAHD1 Q8TBE0 VAR_032360 p.Asp182His Polymorphism rs17856679 - BAHD1 Q8TBE0 VAR_032361 p.Gln298Lys Polymorphism rs3803357 - BAI3 O60242 VAR_046525 p.Asn503Ser Polymorphism rs1932618 - BAIAP2L1 Q9UHR4 VAR_033515 p.Ser460Thr Polymorphism rs2269966 - BAIAP2 Q9UQB8 VAR_050686 p.Gln519Arg Polymorphism rs4969391 - BAIAP3 O94812 VAR_026667 p.Asp582Ala Polymorphism rs1132356 - BAIAP3 O94812 VAR_050687 p.Ser879Ile Polymorphism rs36074509 - BAK1 Q16611 VAR_018829 p.Ala28Val Polymorphism rs4987115 - BAK1 Q16611 VAR_018830 p.Ser69Arg Polymorphism rs5745592 - BAK1 Q16611 VAR_048417 p.Arg42His Polymorphism rs1051911 - BANF2 Q9H503 VAR_013693 p.Thr78Ser Polymorphism rs1053993 - BANF2 Q9H503 VAR_024372 p.Asn3Asp Polymorphism rs4814640 - BANK1 Q8NDB2 VAR_027729 p.Arg61His Polymorphism rs10516487 - BANK1 Q8NDB2 VAR_027730 p.Ala383Thr Polymorphism rs3733197 - BANK1 Q8NDB2 VAR_027731 p.Cys650Arg Polymorphism rs3113676 - BAP1 Q92560 VAR_051517 p.Val616Glu Polymorphism rs35353781 - BAP1 Q92560 VAR_063498 p.Ala95Asp Unclassified - A lung cancer sample BAP1 Q92560 VAR_063499 p.Gly178Val Unclassified - A lung cancer sample BARD1 Q99728 VAR_010354 p.Pro24Ser Polymorphism rs1048108 - BARD1 Q99728 VAR_010355 p.Lys153Glu Polymorphism - - BARD1 Q99728 VAR_010356 p.Val507Met Polymorphism rs2070094 - BARD1 Q99728 VAR_010357 p.Cys557Ser Polymorphism rs28997576 - BARD1 Q99728 VAR_010358 p.Gln564His Unclassified - An ovarian clear cell adenocarcinoma BARD1 Q99728 VAR_010359 p.Arg658Cys Polymorphism rs3738888 - BARD1 Q99728 VAR_010360 p.Val695Leu Unclassified - A breast cancer sample BARD1 Q99728 VAR_010361 p.Ser761Asn Unclassified - An uterine cancer sample BARD1 Q99728 VAR_020109 p.Ser241Cys Polymorphism rs3738885 - BARD1 Q99728 VAR_024611 p.Arg378Ser Polymorphism rs2229571 - BARD1 Q99728 VAR_028309 p.Ser728Phe Polymorphism rs13389423 - BARD1 Q99728 VAR_038371 p.Ser186Gly Polymorphism rs16852741 - BARD1 Q99728 VAR_038372 p.Cys645Arg Polymorphism rs34744268 - BARX1 Q9HBU1 VAR_010927 p.Ala48Thr Polymorphism - - BASP1 P80723 VAR_048396 p.Ala76Val Polymorphism rs3733748 - BATF2 Q8N1L9 VAR_048443 p.Gly6Ser Polymorphism rs12419103 - BATF3 Q9NR55 VAR_039988 p.Val11Ile Polymorphism rs2202683 - BAX Q07812 VAR_007809 p.Gly67Arg Unclassified - A T-cell acute lymphoblastic leukemia cell line BAX Q07812 VAR_013575 p.Gly11Glu Unclassified - - BAX Q07812 VAR_013576 p.Gly108Val Unclassified - A Burkitt lymphoma BAX Q07812 VAR_047053 p.Gly39Arg Polymorphism rs36017265 - BAZ1A Q9NRL2 VAR_028049 p.Asp344Glu Polymorphism rs1133285 - BAZ1A Q9NRL2 VAR_048423 p.Asn1366Lys Polymorphism rs1044140 - BAZ2A Q9UIF9 VAR_055548 p.Val498Glu Polymorphism rs2230579 - BAZ2B Q9UIF8 VAR_055549 p.Met71Thr Polymorphism rs10202670 - BAZ2B Q9UIF8 VAR_055550 p.Leu422Ser Polymorphism rs3213790 - BAZ2B Q9UIF8 VAR_055551 p.Pro530Leu Polymorphism rs3732287 - BAZ2B Q9UIF8 VAR_055552 p.Gly702Val Polymorphism rs2302924 - BAZ2B Q9UIF8 VAR_055553 p.Ser2024Asn Polymorphism rs415793 - BBS10 Q8TAM1 VAR_026391 p.Arg34Pro Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026392 p.Arg49Trp Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026393 p.Cys91Trp Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026394 p.Leu170Ser Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026395 p.Cys195Trp Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026396 p.Tyr197Cys Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026397 p.Val240Gly Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026398 p.Leu308Phe Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026399 p.Ser311Ala Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026400 p.Ser329Leu Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026401 p.Pro363Leu Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026402 p.Leu376Phe Polymorphism rs11109474 - BBS10 Q8TAM1 VAR_026403 p.Leu414Ser Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026404 p.Lys579Arg Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026405 p.Tyr613Cys Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026406 p.Tyr613His Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026407 p.Gly677Val Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_026408 p.Thr689Pro Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] BBS10 Q8TAM1 VAR_052272 p.Pro539Leu Polymorphism rs35676114 - BBS12 Q6ZW61 VAR_034919 p.Ile39Thr Polymorphism - - BBS12 Q6ZW61 VAR_034921 p.Glu126Asp Polymorphism rs309369 - BBS12 Q6ZW61 VAR_034922 p.Pro159Leu Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] BBS12 Q6ZW61 VAR_034923 p.Ile170Val Polymorphism - - BBS12 Q6ZW61 VAR_034924 p.Lys195Arg Polymorphism rs17854892 - BBS12 Q6ZW61 VAR_034925 p.Asn238Lys Polymorphism rs17006082 - BBS12 Q6ZW61 VAR_034926 p.Ala289Pro Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] BBS12 Q6ZW61 VAR_034927 p.Arg386Gln Polymorphism rs309370 - BBS12 Q6ZW61 VAR_034928 p.Ser429Thr Polymorphism rs7665271 - BBS12 Q6ZW61 VAR_034929 p.Asn461His Polymorphism rs10027479 - BBS12 Q6ZW61 VAR_034930 p.Asp467Asn Polymorphism rs13135778 - BBS12 Q6ZW61 VAR_034931 p.Arg484Lys Polymorphism rs35690634 - BBS12 Q6ZW61 VAR_034932 p.Gly540Val Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] BBS12 Q6ZW61 VAR_034933 p.Ala615Val Polymorphism rs17857451 - BBS12 Q6ZW61 VAR_062964 p.Ile346Thr Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] BBS12 Q6ZW61 VAR_062965 p.Thr501Met Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] BBS1 Q8NFJ9 VAR_017215 p.Glu234Lys Disease rs35520756 Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_017216 p.Met390Arg Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_017217 p.Leu518Pro Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038880 p.His35Arg Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038881 p.Lys53Glu Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038882 p.Asp148Asn Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038883 p.Arg160Gln Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038884 p.Gly305Ser Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038886 p.Tyr434Ser Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038887 p.Leu503His Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038888 p.Leu518Gln Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_065554 p.Gly559Asp Unclassified - - BBS2 Q9BXC9 VAR_013162 p.Asn70Ser Disease rs4784677 Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_013163 p.Val75Gly Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_013164 p.Asp104Ala Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_013165 p.Ile123Val Polymorphism rs11373 - BBS2 Q9BXC9 VAR_013166 p.Arg315Gln Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_013167 p.Arg315Trp Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_013168 p.Thr558Ile Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_013169 p.Arg632Pro Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_029747 p.Ala122Val Polymorphism rs17856449 - BBS2 Q9BXC9 VAR_029748 p.Ala504Val Polymorphism rs16957538 - BBS2 Q9BXC9 VAR_038889 p.Arg23Pro Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_038890 p.Asp174Glu Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_038891 p.Leu349Trp Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS2 Q9BXC9 VAR_038892 p.Arg643His Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] BBS4 Q96RK4 VAR_013170 p.Arg295Pro Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] BBS4 Q96RK4 VAR_017049 p.Asn165His Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] BBS4 Q96RK4 VAR_017050 p.Leu327Pro Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] BBS4 Q96RK4 VAR_017051 p.Ala364Glu Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] BBS4 Q96RK4 VAR_017052 p.Ser457Ile Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] BBS4 Q96RK4 VAR_017053 p.Met472Val Disease rs2277596 Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] BBS4 Q96RK4 VAR_017054 p.Ile354Thr Polymorphism rs2277598 - BBS4 Q96RK4 VAR_028722 p.Glu268Lys Polymorphism rs11638283 - BBS4 Q96RK4 VAR_028723 p.Ala393Val Polymorphism rs17852452 - BBS4 Q96RK4 VAR_038894 p.Lys46Arg Polymorphism rs75295839 - BBS4 Q96RK4 VAR_038895 p.Leu351Arg Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] BBS4 Q96RK4 VAR_038896 p.Asp368Gly Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] BBS4 Q96RK4 VAR_038897 p.Pro503Leu Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] BBS5 Q8N3I7 VAR_025316 p.Asn184Ser Polymorphism rs150063999 - BBS5 Q8N3I7 VAR_025317 p.Arg207His Polymorphism rs35487251 - BBS7 Q8IWZ6 VAR_017212 p.Thr211Ile Disease - Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900] BBS7 Q8IWZ6 VAR_017213 p.His323Arg Disease - Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900] BBS7 Q8IWZ6 VAR_038893 p.Ile66Phe Disease - Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900] BBS7 Q8IWZ6 VAR_065555 p.Tyr671Cys Unclassified - - BBS9 Q3SYG4 VAR_026389 p.Gly141Arg Disease - Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900] BBS9 Q3SYG4 VAR_026390 p.Ala455Val Polymorphism rs11773504 - BBS9 Q3SYG4 VAR_051289 p.Thr12Ala Polymorphism rs4498440 - BBS9 Q3SYG4 VAR_051290 p.Ala455Thr Polymorphism rs11773504 - BBS9 Q3SYG4 VAR_051291 p.Arg521Gln Polymorphism rs34218557 - BBX Q8WY36 VAR_061264 p.Pro576Ser Polymorphism rs59781647 - BCAM P50895 VAR_021348 p.Arg77His Polymorphism rs28399653 - BCAM P50895 VAR_021349 p.Val196Ile Polymorphism rs28399654 - BCAM P50895 VAR_021350 p.Met204Lys Polymorphism rs28399656 - BCAM P50895 VAR_021351 p.Arg282His Polymorphism rs9967601 - BCAM P50895 VAR_021352 p.Val381Ile Polymorphism rs28399626 - BCAM P50895 VAR_021353 p.Lys451Gln Polymorphism rs28399630 - BCAM P50895 VAR_021354 p.Thr539Ala Polymorphism rs1135062 - BCAM P50895 VAR_021355 p.Gln581Leu Polymorphism rs28399659 - BCAN Q96GW7 VAR_019551 p.Glu504Lys Polymorphism rs1056695 - BCAN Q96GW7 VAR_050123 p.Ser356Leu Polymorphism rs12065791 - BCAR1 P56945 VAR_035798 p.Ser407Thr Unclassified - A breast cancer sample BCAR1 P56945 VAR_057820 p.Arg491Leu Polymorphism rs16957558 - BCAR1 P56945 VAR_057821 p.His558Arg Polymorphism rs16957552 - BCAR1 P56945 VAR_058970 p.Pro76Ser Polymorphism rs1035539 - BCAR3 O75815 VAR_050689 p.Glu464Gly Polymorphism rs12062278 - BCAR3 O75815 VAR_050690 p.Gln593His Polymorphism rs17110107 - BCAS1 O75363 VAR_024251 p.Gly255Glu Polymorphism rs6022903 - BCAS1 O75363 VAR_026674 p.Gln24Lys Polymorphism rs394732 - BCAS1 O75363 VAR_026675 p.Val163Ala Polymorphism rs158551 - BCAS1 O75363 VAR_026676 p.Ser583Pro Polymorphism rs1055246 - BCAS1 O75363 VAR_050691 p.Gln472His Polymorphism rs35575210 - BCAS2 O75934 VAR_035799 p.Asn139Ser Unclassified - A colorectal cancer sample BCAS3 Q9H6U6 VAR_057583 p.Ile106Val Polymorphism rs34712615 - BCAS3 Q9H6U6 VAR_065093 p.Asn87Ser Polymorphism rs2643103 - BCAS4 Q8TDM0 VAR_016031 p.Glu56Asp Polymorphism rs2272962 - BCAS4 Q8TDM0 VAR_059590 p.Arg173His Polymorphism rs7273412 - BCAT1 P54687 VAR_019614 p.Glu321Lys Polymorphism rs7313020 - BCAT1 P54687 VAR_047681 p.Thr59Met Polymorphism rs17374285 - BCAT1 P54687 VAR_047682 p.Gly330Ser Polymorphism rs1057204 - BCAT2 O15382 VAR_048234 p.Thr186Arg Polymorphism rs11548193 - BCCIP Q9P287 VAR_046642 p.Glu254Gln Polymorphism rs17153610 - BCDIN3D Q7Z5W3 VAR_032614 p.Ser288Arg Polymorphism rs11169172 - BCHE P06276 VAR_002360 p.Asp98Gly Disease rs1799807 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_002362 p.Leu358Ile Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_002364 p.Ala567Thr Disease rs1803274 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040012 p.Thr52Met Disease rs56309853 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040013 p.Phe56Ile Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040014 p.Tyr61Cys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040015 p.Pro65Ser Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040016 p.Asp98His Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040017 p.Asn124Tyr Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040018 p.Pro128Ser Disease rs3732880 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040019 p.Gly143Asp Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040020 p.Leu153Phe Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040021 p.Tyr156Cys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040022 p.Val170Met Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040023 p.Asp198Glu Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040024 p.Ser226Gly Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040025 p.Ala227Val Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040026 p.Ala229Thr Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040027 p.Thr271Met Disease rs28933389 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040028 p.Thr278Pro Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040029 p.Glu283Asp Polymorphism rs16849700 - BCHE P06276 VAR_040030 p.Lys295Arg Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040031 p.Leu335Pro Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040032 p.Ala356Asp Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040033 p.Gly393Arg Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040034 p.Arg414Cys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040035 p.Gly418Val Disease rs28933390 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040036 p.Phe446Ser Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040037 p.Glu488Lys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040038 p.Trp499Arg Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040039 p.Phe502Leu Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040040 p.Glu525Val Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040041 p.Arg543Cys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCHE P06276 VAR_040042 p.Gln546Leu Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] BCKDHA P12694 VAR_004968 p.Arg159Trp Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004969 p.Gln190Lys Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004970 p.Ala253Thr Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004971 p.Ile326Thr Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004972 p.Tyr413Cys Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004973 p.Tyr438Asn Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_015101 p.Gly290Arg Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_015102 p.Phe409Cys Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_034360 p.Pro39His Polymorphism rs34589432 - BCKDHA P12694 VAR_034361 p.Thr151Met Polymorphism rs34442879 - BCKDHB P21953 VAR_004974 p.His206Arg Disease - Maple syrup urine disease type IB (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_024851 p.Arg183Pro Disease rs28934895 Maple syrup urine disease type IB (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_024852 p.Gly278Ser Disease - Maple syrup urine disease type IB (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_050437 p.Thr41Ile Polymorphism rs35470366 - BCL10 O95999 VAR_013208 p.Ala5Ser Unclassified rs12037217 MALT lymphoma BCL10 O95999 VAR_013209 p.Val16Glu Unclassified - MALT lymphoma BCL10 O95999 VAR_013210 p.Lys31Glu Unclassified - MALT lymphoma BCL10 O95999 VAR_013211 p.Lys45Gln Unclassified - - BCL10 O95999 VAR_013212 p.Thr52Ile Unclassified - - BCL10 O95999 VAR_013213 p.Cys57Arg Unclassified - MALT lymphoma BCL10 O95999 VAR_013214 p.Arg58Gly Unclassified - Germ cell tumor BCL10 O95999 VAR_013215 p.Arg58Gln Unclassified - - BCL10 O95999 VAR_013216 p.Arg64Lys Unclassified - MALT lymphoma BCL10 O95999 VAR_013217 p.Asn93Ser Unclassified - - BCL10 O95999 VAR_013218 p.Asp101Glu Unclassified - MALT lymphoma BCL10 O95999 VAR_013219 p.Ser134Pro Unclassified - MALT lymphoma BCL10 O95999 VAR_013220 p.Met153Val Unclassified - - BCL10 O95999 VAR_013221 p.Thr168Ala Unclassified - MALT lymphoma BCL10 O95999 VAR_013222 p.Leu174Ser Unclassified - MALT lymphoma BCL10 O95999 VAR_013224 p.Gly213Glu Unclassified rs3768235 MALT lymphoma BCL10 O95999 VAR_013225 p.Ser218Phe Unclassified - Germ cell tumor BCL10 O95999 VAR_013226 p.Val230Ile Unclassified - MALT lymphoma BCL11A Q9H165 VAR_035553 p.Ser142Phe Unclassified - A breast cancer sample BCL11B Q9C0K0 VAR_035554 p.Ser331Pro Unclassified - A colorectal cancer sample BCL11B Q9C0K0 VAR_065741 p.Glu32Val Unclassified - - BCL11B Q9C0K0 VAR_065742 p.Pro229Ser Unclassified - - BCL2A1 Q16548 VAR_020342 p.Cys19Tyr Polymorphism rs1138357 - BCL2A1 Q16548 VAR_020343 p.Asn39Lys Polymorphism rs1138358 - BCL2A1 Q16548 VAR_020344 p.Gly82Asp Polymorphism rs3826007 - BCL2A1 Q16548 VAR_044059 p.Glu117Asp Polymorphism rs34080999 - BCL2L10 Q9HD36 VAR_047113 p.Leu11Arg Polymorphism rs2231292 - BCL2L12 Q9HB09 VAR_048419 p.Gly47Val Polymorphism rs2060263 - BCL2L13 Q9BXK5 VAR_024377 p.Ile55Val Polymorphism rs16981016 - BCL2L13 Q9BXK5 VAR_024378 p.Pro360Ser Polymorphism rs9306198 - BCL2L13 Q9BXK5 VAR_059141 p.Ile46Arg Polymorphism rs2587070 - BCL2L13 Q9BXK5 VAR_059142 p.Ile46Thr Polymorphism rs2587070 - BCL2L15 Q5TBC7 VAR_031475 p.Asp90Asn Polymorphism rs1217381 - BCL2L2 Q92843 VAR_048418 p.Gln133Arg Polymorphism rs910332 - BCL2 P10415 VAR_000827 p.Thr7Ser Polymorphism - - BCL2 P10415 VAR_000828 p.Pro59Ser Unclassified - Non-Hodgkin lymphoma BCL2 P10415 VAR_000829 p.Val93Ile Unclassified - Non-Hodgkin lymphoma BCL2 P10415 VAR_014716 p.Ala43Thr Polymorphism rs1800477 - BCL6 P41182 VAR_014825 p.His676Tyr Polymorphism rs1056936 - BCL6 P41182 VAR_019970 p.Ala493Thr Polymorphism rs2229362 - BCL6 P41182 VAR_052709 p.Asn252Ser Polymorphism rs34463990 - BCL7A Q4VC05 VAR_033539 p.Asn120Thr Polymorphism rs34821485 - BCL9 O00512 VAR_046545 p.Pro671Ser Polymorphism rs3820129 - BCL9 O00512 VAR_046546 p.Arg782Lys Polymorphism rs34002844 - BCLAF1 Q9NYF8 VAR_050692 p.Ser209Cys Polymorphism rs6940018 - BCLAF1 Q9NYF8 VAR_050693 p.Tyr459Asp Polymorphism rs1967446 - BCLAF1 Q9NYF8 VAR_050694 p.Leu461His Polymorphism rs1967445 - BCLAF1 Q9NYF8 VAR_050695 p.Asn629Ser Polymorphism rs7381749 - BCLAF1 Q9NYF8 VAR_050696 p.Arg875Cys Polymorphism rs34541670 - BCLAF1 Q9NYF8 VAR_059591 p.Gly66Ala Polymorphism rs9942517 - BCMO1 Q9HAY6 VAR_048406 p.Arg267Ser Polymorphism rs12934922 - BCMO1 Q9HAY6 VAR_048407 p.Ala379Val Polymorphism rs7501331 - BCMO1 Q9HAY6 VAR_058112 p.Thr170Met Disease - Autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD) [MIM:115300] BCO2 Q9BYV7 VAR_047047 p.Leu231Pro Polymorphism rs10891338 - BCO2 Q9BYV7 VAR_047048 p.Gly289Glu Polymorphism rs17113607 - BCO2 Q9BYV7 VAR_047049 p.Ile548Leu Polymorphism rs2217401 - BCORL1 Q5H9F3 VAR_037467 p.Gly209Ser Polymorphism rs5932715 - BCORL1 Q5H9F3 VAR_037468 p.Gly832Asp Unclassified - A breast cancer sample BCORL1 Q5H9F3 VAR_061020 p.Phe111Leu Polymorphism rs4830173 - BCOR Q6W2J9 VAR_020921 p.Pro85Leu Disease rs28935183 Microphthalmia syndromic type 2 (MCOPS2) [MIM:300166] BCR P11274 VAR_031552 p.Asn796Ser Polymorphism rs140504 - BCR P11274 VAR_031553 p.Glu1037Lys Polymorphism rs16999516 - BCR P11274 VAR_031554 p.Thr1127Met Polymorphism rs35812689 - BCR P11274 VAR_041883 p.Ser400Pro Unclassified - A bladder transitional cell carcinoma sample BCR P11274 VAR_041884 p.Ile413Met Polymorphism rs56321828 - BCR P11274 VAR_041885 p.Asp752Glu Polymorphism rs12484731 - BCR P11274 VAR_041886 p.Tyr910Cys Polymorphism rs35537221 - BCR P11274 VAR_041887 p.Val949Ile Polymorphism rs2229038 - BCR P11274 VAR_041888 p.Val1091Met Polymorphism - - BCR P11274 VAR_041889 p.Thr1096Ala Polymorphism - - BCR P11274 VAR_041890 p.Ala1104Gly Polymorphism - - BCR P11274 VAR_041891 p.Asp1106Asn Polymorphism - - BCR P11274 VAR_041892 p.Ala1149Thr Polymorphism - - BCR P11274 VAR_041893 p.Glu1161Lys Polymorphism - - BCR P11274 VAR_041894 p.Lys1187Glu Polymorphism - - BCR P11274 VAR_041895 p.Val1189Met Polymorphism rs55816482 - BCR P11274 VAR_041896 p.Ala1204Gly Polymorphism rs56265970 - BCR P11274 VAR_041897 p.Trp1235Arg Polymorphism rs55719322 - BCR P11274 VAR_051983 p.Lys558Thr Polymorphism rs4437065 - BCS1L Q9Y276 VAR_018149 p.Ser78Gly Disease rs28937590 GRACILE syndrome (GRACILE) [MIM:603358] BCS1L Q9Y276 VAR_018159 p.Pro99Leu Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BCS1L Q9Y276 VAR_018160 p.Arg144Gln Disease - GRACILE syndrome (GRACILE) [MIM:603358] BCS1L Q9Y276 VAR_018161 p.Arg155Pro Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BCS1L Q9Y276 VAR_018162 p.Ser277Asn Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BCS1L Q9Y276 VAR_018163 p.Val327Ala Disease - GRACILE syndrome (GRACILE) [MIM:603358] BCS1L Q9Y276 VAR_018164 p.Val353Met Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BCS1L Q9Y276 VAR_032086 p.Gly35Arg Disease - Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032087 p.Arg45Cys Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BCS1L Q9Y276 VAR_032088 p.Arg114Trp Disease - Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032089 p.Arg183His Disease - Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032090 p.Arg184Cys Disease - Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032090 p.Arg184Cys Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BCS1L Q9Y276 VAR_032091 p.Gln302Glu Disease - Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032092 p.Arg306His Disease - Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_064615 p.Thr50Ala Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BCS1L Q9Y276 VAR_064616 p.Arg73Cys Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BCS1L Q9Y276 VAR_064617 p.Arg183Cys Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BCS1L Q9Y276 VAR_064618 p.Phe368Ile Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] BDH2 Q9BUT1 VAR_023602 p.Asn70Ser Polymorphism rs1054707 - BDKRB1 P46663 VAR_014359 p.Ala250Val Polymorphism rs2229459 - BDKRB1 P46663 VAR_049376 p.Arg317Gln Polymorphism rs8004609 - BDKRB2 P30411 VAR_003457 p.Arg14Cys Polymorphism rs1046248 - BDKRB2 P30411 VAR_012284 p.Gly354Glu Polymorphism rs2227279 - BDNF P23560 VAR_004626 p.Val66Met Polymorphism rs6265 - BDNF P23560 VAR_011797 p.Gln75His Polymorphism rs1048218 - BDNF P23560 VAR_011798 p.Arg125Met Polymorphism rs1048220 - BDNF P23560 VAR_011799 p.Arg127Leu Polymorphism rs1048221 - BDNF P23560 VAR_018260 p.Thr2Ile Disease rs8192466 Congenital central hypoventilation syndrome (CCHS) [MIM:209880] BDP1 A6H8Y1 VAR_043312 p.Asp38Glu Polymorphism rs3748043 - BDP1 A6H8Y1 VAR_043313 p.Arg757Cys Polymorphism rs3761966 - BDP1 A6H8Y1 VAR_043314 p.Val778Met Polymorphism rs3761967 - BDP1 A6H8Y1 VAR_043315 p.Ile1264Met Polymorphism rs715747 - BDP1 A6H8Y1 VAR_043316 p.Val1347Met Polymorphism rs6886336 - BDP1 A6H8Y1 VAR_043317 p.Lys1469Glu Polymorphism rs1698063 - BDP1 A6H8Y1 VAR_043318 p.Ile2013Leu Polymorphism rs6453014 - BDP1 A6H8Y1 VAR_056743 p.Asn26Ser Polymorphism rs3748042 - BDP1 A6H8Y1 VAR_056744 p.Ala125Val Polymorphism rs9687593 - BDP1 A6H8Y1 VAR_056745 p.Lys722Glu Polymorphism rs36009281 - BDP1 A6H8Y1 VAR_056746 p.Gly1180Ser Polymorphism rs715748 - BDP1 A6H8Y1 VAR_056747 p.Phe1244Ile Polymorphism rs1961760 - BDP1 A6H8Y1 VAR_056748 p.Gln1676Glu Polymorphism rs12187098 - BDP1 A6H8Y1 VAR_056749 p.Asn2555Ser Polymorphism rs17276250 - BECN1 Q14457 VAR_005236 p.Ile403Thr Polymorphism - - BECN1 Q14457 VAR_010384 p.Ala103Val Polymorphism - - BEND2 Q8NDZ0 VAR_022885 p.Phe154Leu Polymorphism rs17274127 - BEND2 Q8NDZ0 VAR_050935 p.Ser188Phe Polymorphism rs12859329 - BEND7 Q8N7W2 VAR_035501 p.Arg313Thr Unclassified - A breast cancer sample BEND7 Q8N7W2 VAR_057830 p.Asn341Ser Polymorphism rs12247033 - BEST1 O76090 VAR_000830 p.Thr6Pro Disease rs28940275 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] BEST1 O76090 VAR_000830 p.Thr6Pro Disease rs28940275 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000831 p.Val9Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000832 p.Val9Met Disease rs28940276 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000833 p.Ala10Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000834 p.Leu21Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000835 p.Trp24Cys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000836 p.Arg25Gln Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000837 p.Arg25Trp Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000838 p.Ser27Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000839 p.Gln58Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000840 p.Leu67Val Polymorphism - - BEST1 O76090 VAR_000841 p.Tyr85His Disease rs28940274 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000842 p.Arg92Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000843 p.Trp93Cys Disease rs28940273 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000844 p.Asn99Lys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000845 p.Leu100Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000846 p.Asp104Glu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000847 p.Arg141His Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_000847 p.Arg141His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000848 p.Ser209Asn Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000849 p.Arg218Cys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000850 p.Arg218Gln Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000851 p.Arg218Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000852 p.Leu224Met Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000853 p.Tyr227Cys Disease - Retinitis pigmentosa type 50 (RP50) [MIM:613194] BEST1 O76090 VAR_000854 p.Tyr227Asn Disease rs28941469 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000855 p.Ser231Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000856 p.Val235Met Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000857 p.Thr237Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000858 p.Ala243Val Disease rs28940570 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] BEST1 O76090 VAR_000858 p.Ala243Val Disease rs28940570 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000860 p.Pro297Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000861 p.Gly299Glu Disease rs28941468 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000862 p.Glu300Lys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000863 p.Asp301Glu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000864 p.Asp301Asn Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000865 p.Phe305Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000866 p.Ile310Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000867 p.Val311Gly Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000868 p.Asp312Asn Disease - Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] BEST1 O76090 VAR_000868 p.Asp312Asn Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_009278 p.Glu578Val Polymorphism rs1800010 - BEST1 O76090 VAR_010468 p.Ala10Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010469 p.Arg13His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010470 p.Ser16Phe Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010471 p.Phe17Cys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010472 p.Ile73Asn Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010473 p.Leu82Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010474 p.Arg92Cys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010475 p.Arg92His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010476 p.Gln96His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010477 p.Glu119Gln Polymorphism rs1805142 - BEST1 O76090 VAR_010478 p.Gly135Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010479 p.Ala146Lys Disease rs1800995 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] BEST1 O76090 VAR_010480 p.Thr216Ile Unclassified - - BEST1 O76090 VAR_010481 p.Arg218His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010482 p.Val235Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010483 p.Gln293Lys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010484 p.Asn296Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010485 p.Pro297Ser Disease rs1805143 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010486 p.Glu300Asp Disease rs1805144 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010487 p.Thr307Ile Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010488 p.Glu525Ala Polymorphism - - BEST1 O76090 VAR_010489 p.Glu557Lys Polymorphism - - BEST1 O76090 VAR_010490 p.Thr561Ala Polymorphism - - BEST1 O76090 VAR_010491 p.Leu567Phe Polymorphism - - BEST1 O76090 VAR_017366 p.Thr6Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017367 p.Asn11Ile Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017368 p.Gly26Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017369 p.Tyr29His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017370 p.Lys30Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017371 p.Leu41Pro Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_017371 p.Leu41Pro Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017372 p.Arg47His Disease rs28940278 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] BEST1 O76090 VAR_017373 p.Phe80Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017374 p.Val89Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017375 p.Thr91Ile Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017376 p.Pro101Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017377 p.Trp102Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017378 p.Asp104His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017379 p.Asn133Lys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017380 p.Leu140Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017381 p.Ala195Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025731 p.Arg105Cys Unclassified - - BEST1 O76090 VAR_025732 p.Phe113Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025733 p.Ile201Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025734 p.Leu207Ile Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025735 p.Cys221Trp Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025736 p.Gly222Val Unclassified - - BEST1 O76090 VAR_025737 p.Leu224Pro Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025738 p.Thr241Asn Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025739 p.Ala243Thr Disease rs28940570 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025740 p.Val275Ile Unclassified - - BEST1 O76090 VAR_025741 p.Phe276Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025742 p.Leu294Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025743 p.Ile295Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025744 p.Asn296His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025745 p.Phe298Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025746 p.Asp302Gly Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025747 p.Asp302His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025748 p.Asp302Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025749 p.Asp303Glu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025750 p.Glu306Asp Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025751 p.Glu306Gly Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025752 p.Thr307Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025753 p.Asn308Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_043493 p.Pro152Ala Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_043494 p.Val317Met Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_043495 p.Met325Thr Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_043496 p.Ala357Val Polymorphism rs17854138 - BEST1 O76090 VAR_058273 p.Ile3Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_058274 p.Val86Met Disease - Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220] BEST1 O76090 VAR_058275 p.Tyr236Cys Disease - Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220] BEST1 O76090 VAR_058276 p.Val239Met Disease - Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220] BEST1 O76090 VAR_058277 p.Val242Met Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_058313 p.Gly299Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_063169 p.Leu140Val Disease - Retinitis pigmentosa type 50 (RP50) [MIM:613194] BEST1 O76090 VAR_063170 p.Ile205Thr Disease - Retinitis pigmentosa type 50 (RP50) [MIM:613194] BEST1 O76090 VAR_063171 p.Asp228Asn Disease - Retinitis pigmentosa type 50 (RP50) [MIM:613194] BEST3 Q8N1M1 VAR_048409 p.Tyr43His Polymorphism rs1025016 - BEST3 Q8N1M1 VAR_048410 p.Glu622Gly Polymorphism rs17106884 - BEST4 Q8NFU0 VAR_048411 p.Tyr62Cys Polymorphism rs16832245 - BEST4 Q8NFU0 VAR_048412 p.Tyr217Ser Polymorphism rs16832242 - BEST4 Q8NFU0 VAR_048413 p.Gln331Glu Polymorphism rs16832241 - BEST4 Q8NFU0 VAR_048414 p.Arg402Leu Polymorphism rs16832239 - BEX1 Q9HBH7 VAR_025756 p.Ala40Val Polymorphism rs709036 - BEX1 Q9HBH7 VAR_025757 p.Met66Ile Polymorphism rs1045082 - BEX1 Q9HBH7 VAR_042667 p.Val9Leu Polymorphism rs3174500 - BEX1 Q9HBH7 VAR_042668 p.Ser11Asn Polymorphism rs1045058 - BEX1 Q9HBH7 VAR_042669 p.Ser13Ile Polymorphism rs1045061 - BEX1 Q9HBH7 VAR_042670 p.Met14Val Polymorphism rs1045063 - BEX1 Q9HBH7 VAR_042671 p.Ala17Val Polymorphism rs1045065 - BFAR Q9NZS9 VAR_052075 p.Met140Arg Polymorphism rs11546303 - BFAR Q9NZS9 VAR_052076 p.Arg245His Polymorphism rs35377618 - BFSP1 Q12934 VAR_024492 p.Gly345Ser Polymorphism rs6080719 - BFSP1 Q12934 VAR_036683 p.Asp656Glu Polymorphism rs16999317 - BFSP2 Q13515 VAR_012164 p.Arg287Trp Disease - Cataract autosomal dominant multiple types 1 (ADC-MT1) [MIM:611597] BGLAP P02818 VAR_038743 p.Arg94Gln Polymorphism rs34702397 - BGN P21810 VAR_036605 p.Arg266Thr Unclassified - A breast cancer sample BGN P21810 VAR_036606 p.Lys288Asn Unclassified - A breast cancer sample BHLHB9 Q6PI77 VAR_049266 p.Ser132Gly Polymorphism rs2179675 - BHLHB9 Q6PI77 VAR_049267 p.Cys318Arg Polymorphism rs4514179 - BHLHE22 Q8NFJ8 VAR_061255 p.Ser28Ala Polymorphism rs7016250 - BHLHE41 Q9C0J9 VAR_063259 p.Pro384Arg Unclassified - - BHMT Q93088 VAR_015886 p.Arg239Gln Polymorphism rs3733890 - BHMT Q93088 VAR_061345 p.Gly199Ser Polymorphism rs59866108 - BICC1 Q9H694 VAR_029658 p.Gly8Asp Polymorphism rs7905025 - BICC1 Q9H694 VAR_033542 p.Ser943Pro Polymorphism rs4948550 - BICC1 Q9H694 VAR_060133 p.Asn945Ser Polymorphism rs7895817 - BID P55957 VAR_018845 p.Ser10Gly Polymorphism rs8190315 - BID P55957 VAR_025332 p.His162Gln Polymorphism rs17853595 - BID P55957 VAR_061041 p.Met194Thr Polymorphism rs59225839 - BIK Q13323 VAR_029179 p.Glu19Lys Polymorphism rs4988415 - BIK Q13323 VAR_029180 p.Leu148Pro Polymorphism rs11574527 - BIK Q13323 VAR_048420 p.Thr26Ile Polymorphism rs11090143 - BIN1 O00499 VAR_037425 p.Lys35Asn Disease - Centronuclear myopathy type 2 (CNM2) [MIM:255200] BIN1 O00499 VAR_037426 p.Asp151Asn Disease - Centronuclear myopathy type 2 (CNM2) [MIM:255200] BIN2 Q9UBW5 VAR_028883 p.Ser48Asn Polymorphism rs7312857 - BIN2 Q9UBW5 VAR_028884 p.Asn529Asp Polymorphism rs7954976 - BIRC2 Q13490 VAR_025016 p.Met453Val Polymorphism - - BIRC2 Q13490 VAR_025017 p.Ala506Val Polymorphism rs34510872 - BIRC2 Q13490 VAR_025018 p.Pro549Ser Polymorphism rs35494784 - BIRC2 Q13490 VAR_049535 p.Met453Ile Polymorphism rs34749508 - BIRC3 Q13489 VAR_021069 p.Lys260Arg Polymorphism rs2276113 - BIRC3 Q13489 VAR_021070 p.Arg401Lys Polymorphism rs17881197 - BIRC3 Q13489 VAR_049536 p.Val386Met Polymorphism rs12222256 - BIRC5 O15392 VAR_021071 p.Lys129Glu Polymorphism rs2071214 - BIRC7 Q96CA5 VAR_020253 p.Glu223Gln Polymorphism rs1077019 - BIRC8 Q96P09 VAR_028282 p.His196Tyr Polymorphism rs8109165 - BIRC8 Q96P09 VAR_055944 p.Ala156Thr Polymorphism rs35880972 - BIRC8 Q96P09 VAR_055945 p.Leu165Ser Polymorphism rs34092035 - BIRC8 Q96P09 VAR_055946 p.Ala225Thr Polymorphism rs35700345 - BIRC8 Q96P09 VAR_055947 p.Ala225Val Polymorphism rs34683072 - BLID Q8IZY5 VAR_056750 p.Ala76Asp Polymorphism rs7116084 - BLK P51451 VAR_041672 p.Thr48Ile Polymorphism rs35339715 - BLK P51451 VAR_041673 p.Ala71Thr Polymorphism rs55758736 - BLMH Q13867 VAR_010896 p.Ile443Val Polymorphism rs1050565 - BLM P54132 VAR_006901 p.Gln672Arg Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_006902 p.Thr843Ile Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_006903 p.Cys1055Ser Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_009138 p.Gly891Glu Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_009139 p.Cys901Tyr Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_009140 p.Cys1036Phe Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_014912 p.Ser1209Thr Polymorphism rs1801256 - BLM P54132 VAR_016032 p.Ile841Thr Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_016033 p.Cys878Arg Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_022295 p.Lys137Arg Polymorphism rs28384988 - BLM P54132 VAR_022296 p.Thr298Met Polymorphism rs28384991 - BLM P54132 VAR_022297 p.Arg591Gln Polymorphism rs28385012 - BLM P54132 VAR_022298 p.Pro868Leu Polymorphism rs11852361 - BLM P54132 VAR_022299 p.Val1205Ile Polymorphism rs28385141 - BLM P54132 VAR_022300 p.Glu1213Lys Polymorphism rs28385142 - BLM P54132 VAR_022301 p.Val1321Ile Polymorphism rs7167216 - BLM P54132 VAR_051731 p.Ala1043Asp Polymorphism rs2229035 - BLOC1S2 Q6QNY1 VAR_054068 p.Ser13Arg Polymorphism rs33965491 - BLVRA P53004 VAR_014851 p.Gln56Arg Polymorphism rs1050916 - BLVRA P53004 VAR_019230 p.Ala3Thr Polymorphism rs699512 - BLVRA P53004 VAR_019231 p.Leu37Val Polymorphism rs17245918 - BLVRB P30043 VAR_019168 p.Arg46Gln Polymorphism rs11547746 - BLZF1 Q9H2G9 VAR_028142 p.Gln40Arg Polymorphism rs1028180 - BLZF1 Q9H2G9 VAR_028143 p.Arg196Gln Polymorphism rs1064274 - BMI1 P35226 VAR_052087 p.Cys18Tyr Polymorphism rs1042059 - BMP10 O95393 VAR_052572 p.Thr200Ser Polymorphism rs2231342 - BMP10 O95393 VAR_052573 p.Asn250Lys Polymorphism rs2231345 - BMP15 O95972 VAR_021195 p.Tyr235Cys Disease - Ovarian dysgenesis type 2 (ODG2) [MIM:300510] BMP15 O95972 VAR_058974 p.Ser5Arg Polymorphism rs113099187 - BMP15 O95972 VAR_058975 p.Arg61Gln Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058976 p.Arg61Trp Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058977 p.Arg68Trp Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058978 p.Arg76Cys Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058979 p.Arg76His Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058980 p.Asn103Ser Polymorphism rs41308602 - BMP15 O95972 VAR_058981 p.Arg138His Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058982 p.Leu148Pro Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058983 p.Ala180Phe Unclassified - - BMP15 O95972 VAR_058984 p.Ala180Thr Unclassified - - BMP15 O95972 VAR_058985 p.Asn196Lys Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058986 p.Arg206His Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058987 p.Trp221Arg Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058988 p.Ile243Val Disease - Premature ovarian failure type 4 (POF4) [MIM:300510] BMP1 P13497 VAR_036141 p.Asp45His Unclassified - A breast cancer sample BMP1 P13497 VAR_051584 p.Val719Ile Polymorphism rs11996036 - BMP2K Q9NSY1 VAR_040388 p.Val68Met Unclassified - A lung squamous cell carcinoma sample BMP2K Q9NSY1 VAR_040389 p.Asp212Val Polymorphism - - BMP2K Q9NSY1 VAR_040390 p.Arg288His Polymorphism - - BMP2K Q9NSY1 VAR_051618 p.Gly405Ser Polymorphism rs2288255 - BMP2K Q9NSY1 VAR_051619 p.Thr1002Ser Polymorphism rs12507099 - BMP2K Q9NSY1 VAR_059765 p.Gln486His Polymorphism rs2114202 - BMP2 P12643 VAR_020061 p.Ser37Ala Polymorphism rs2273073 - BMP2 P12643 VAR_020062 p.Ala106Thr Polymorphism rs2273074 - BMP2 P12643 VAR_024232 p.Arg190Ser Polymorphism rs235768 - BMP2 P12643 VAR_052568 p.Pro77Ser Polymorphism rs36105541 - BMP2 P12643 VAR_052569 p.Leu161Ser Polymorphism rs34183594 - BMP2 P12643 VAR_052570 p.Asp387Gly Polymorphism rs11545591 - BMP3 P12645 VAR_020063 p.Arg192Gln Polymorphism rs3733549 - BMP3 P12645 VAR_047418 p.Gln176Lys Polymorphism rs34213771 - BMP3 P12645 VAR_047419 p.Gln176Leu Polymorphism rs34847147 - BMP3 P12645 VAR_047420 p.Leu205Phe Polymorphism rs6831040 - BMP3 P12645 VAR_047421 p.Thr222Met Polymorphism rs34505126 - BMP4 P12644 VAR_016174 p.Val152Ala Polymorphism rs17563 - BMP4 P12644 VAR_043531 p.Ser91Cys Disease - Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625] BMP4 P12644 VAR_043532 p.Glu93Gly Disease - Microphthalmia syndromic type 6 (MCOPS6) [MIM:607932] BMP4 P12644 VAR_043533 p.Thr116Ser Unclassified - - BMP4 P12644 VAR_043534 p.Asn150Lys Unclassified - - BMP4 P12644 VAR_043535 p.Thr225Ala Polymorphism - - BMP4 P12644 VAR_043536 p.Arg226Trp Polymorphism - - BMP4 P12644 VAR_043537 p.Ser367Thr Polymorphism - - BMP4 P12644 VAR_058314 p.Thr102Ala Polymorphism - - BMP4 P12644 VAR_058315 p.Arg162Gln Disease - Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625] BMP4 P12644 VAR_058316 p.Gly168Ala Polymorphism - - BMP4 P12644 VAR_058317 p.Arg287His Disease - Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625] BMP4 P12644 VAR_058318 p.Ala346Val Disease - Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625] BMP5 P22003 VAR_047054 p.His2Tyr Polymorphism rs9475437 - BMP5 P22003 VAR_061896 p.Asn121Ser Polymorphism rs35124644 - BMP6 P22004 VAR_036200 p.Ala343Asp Unclassified - A colorectal cancer sample BMP6 P22004 VAR_036201 p.Pro476Leu Unclassified - A colorectal cancer sample BMP6 P22004 VAR_047055 p.Arg257Cys Polymorphism rs10458105 - BMP7 P18075 VAR_064058 p.Leu198Pro Unclassified - - BMP7 P18075 VAR_064059 p.Asn321Ser Polymorphism - - BMP8A Q7Z5Y6 VAR_052571 p.Arg293His Polymorphism rs6525 - BMP8A Q7Z5Y6 VAR_059859 p.Met84Val Polymorphism rs4660269 - BMP8B P34820 VAR_014474 p.His293Arg Polymorphism rs6525 - BMPER Q8N8U9 VAR_028166 p.Arg555Trp Polymorphism rs10249320 - BMPR1A P36894 VAR_015533 p.Cys124Arg Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_015534 p.Ala338Asp Disease - Cowden disease (CD) [MIM:158350] BMPR1A P36894 VAR_015535 p.Cys376Tyr Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022828 p.Tyr62Asp Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022829 p.Cys82Tyr Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022830 p.Cys130Arg Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022831 p.Arg443Cys Disease rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022832 p.Met470Thr Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_041397 p.Pro2Thr Polymorphism rs11528010 - BMPR1A P36894 VAR_041398 p.Phe58Tyr Unclassified - A renal clear cell carcinoma sample BMPR1A P36894 VAR_041399 p.Val450Met Polymorphism rs55932635 - BMPR1A P36894 VAR_041400 p.Arg486Gln Unclassified - A gastric adenocarcinoma sample BMPR1B O00238 VAR_023819 p.Ile200Lys Disease rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600] BMPR1B O00238 VAR_023820 p.Arg486Trp Disease rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600] BMPR1B O00238 VAR_037967 p.Arg486Gln Disease - Brachydactyly type A2 (BDA2) [MIM:112600] BMPR1B O00238 VAR_041401 p.Arg31His Unclassified - A gastric adenocarcinoma sample BMPR1B O00238 VAR_041402 p.Arg149Trp Polymorphism rs34231464 - BMPR1B O00238 VAR_041403 p.Arg224His Polymorphism rs35973133 - BMPR1B O00238 VAR_041404 p.Asp297Asn Unclassified - A metastatic melanoma sample BMPR1B O00238 VAR_041405 p.Arg371Gln Polymorphism rs34970181 - BMPR2 Q13873 VAR_013670 p.Cys60Tyr Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013671 p.Cys117Tyr Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013672 p.Cys118Trp Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013673 p.Cys123Arg Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013674 p.Cys123Ser Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013675 p.Glu224Asp Polymorphism - - BMPR2 Q13873 VAR_013676 p.Cys347Tyr Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013677 p.Cys420Arg Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013678 p.Cys483Arg Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013679 p.Asp485Gly Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013680 p.Arg491Gln Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013681 p.Arg491Trp Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013682 p.Lys512Thr Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013683 p.Asn519Lys Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_019996 p.Ser775Asn Polymorphism rs2228545 - BMPR2 Q13873 VAR_033109 p.Gln82His Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_033110 p.Gly182Asp Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMPR2 Q13873 VAR_033111 p.Arg899Pro Disease - Primary pulmonary hypertension (PPH1) [MIM:178600] BMS1 Q14692 VAR_057503 p.Arg237His Polymorphism rs2272881 - BMS1 Q14692 VAR_057504 p.Ser552Pro Polymorphism rs3814621 - BMS1 Q14692 VAR_057505 p.Lys652Arg Polymorphism rs787795 - BMS1 Q14692 VAR_057506 p.Met884Val Polymorphism rs2419109 - BMS1 Q14692 VAR_057507 p.Val1141Ile Polymorphism rs12764004 - BMX P51813 VAR_041674 p.Ser284Leu Polymorphism rs35353387 - BMX P51813 VAR_041675 p.Arg670Trp Unclassified - A lung large cell carcinoma sample BNC2 Q6ZN30 VAR_033543 p.Thr782Ala Polymorphism rs3739714 - BNC2 Q6ZN30 VAR_052707 p.Leu550Val Polymorphism rs4961490 - BNIP1 Q12981 VAR_019169 p.Gln14His Polymorphism rs5745100 - BNIP2 Q12982 VAR_018837 p.Ser24Thr Polymorphism rs6151509 - BNIPL Q7Z465 VAR_051917 p.Ser65Asn Polymorphism rs12068365 - BNIPL Q7Z465 VAR_051918 p.Ser226Asn Polymorphism rs12068365 - BOC Q9BWV1 VAR_033600 p.Lys883Asn Polymorphism rs35536878 - BOC Q9BWV1 VAR_033601 p.Gln915His Polymorphism rs3814405 - BOC Q9BWV1 VAR_035503 p.Val713Met Unclassified - A breast cancer sample BOD1L1 Q8NFC6 VAR_035220 p.Thr429Met Polymorphism rs2035820 - BOD1L1 Q8NFC6 VAR_035221 p.Leu650Ile Polymorphism rs1971278 - BOD1L1 Q8NFC6 VAR_035222 p.Ala1369Gly Polymorphism rs17745712 - BOD1L1 Q8NFC6 VAR_035223 p.Thr1448Ala Polymorphism rs17745676 - BOD1L1 Q8NFC6 VAR_035224 p.Thr1515Ala Polymorphism rs16888885 - BOD1L1 Q8NFC6 VAR_035225 p.Val1645Ile Polymorphism rs17807493 - BOD1L1 Q8NFC6 VAR_035226 p.Gly2361Ser Polymorphism rs3822227 - BOD1L1 Q8NFC6 VAR_035227 p.Pro2396Leu Polymorphism rs3733557 - BOD1L1 Q8NFC6 VAR_036124 p.Ser246Ile Unclassified - A breast cancer sample BOD1L1 Q8NFC6 VAR_061166 p.Val2944Met Polymorphism rs28538279 - BOLA1 Q9Y3E2 VAR_033630 p.Gly98Ala Polymorphism rs1044808 - BOP Q7L3V2 VAR_034590 p.Arg116His Polymorphism rs17745302 - BOP Q7L3V2 VAR_034591 p.Asp123Tyr Polymorphism rs34027839 - BORA Q6PGQ7 VAR_030110 p.Ser210Leu Polymorphism rs9543107 - BORA Q6PGQ7 VAR_030111 p.Ser308Phe Polymorphism rs1146858 - BPGM P07738 VAR_065367 p.Arg62Gln Disease - Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] BPGM P07738 VAR_065368 p.Arg90Cys Disease - Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] BPIFA2 Q96DR5 VAR_049751 p.Gly43Arg Polymorphism rs6059139 - BPIFA2 Q96DR5 VAR_049752 p.Lys113Glu Polymorphism rs17304572 - BPIFA2 Q96DR5 VAR_049753 p.Arg221Cys Polymorphism rs6120140 - BPIFA3 Q9BQP9 VAR_049754 p.Ala41Glu Polymorphism rs17124391 - BPIFA3 Q9BQP9 VAR_049755 p.Val136Ile Polymorphism rs3818222 - BPIFB1 Q8TDL5 VAR_016756 p.Ile84Val Polymorphism rs1078761 - BPIFB1 Q8TDL5 VAR_016757 p.Ser479Thr Polymorphism rs1999663 - BPIFB1 Q8TDL5 VAR_023361 p.Ser298Pro Polymorphism rs6120221 - BPIFB1 Q8TDL5 VAR_023362 p.Ser313Ile Polymorphism rs6120222 - BPIFB1 Q8TDL5 VAR_049747 p.Thr140Ala Polymorphism rs34578060 - BPIFB1 Q8TDL5 VAR_049748 p.Val284Met Polymorphism rs6141383 - BPIFB1 Q8TDL5 VAR_049749 p.Asp287His Polymorphism rs34548457 - BPIFB1 Q8TDL5 VAR_049750 p.Thr464Ser Polymorphism rs17856249 - BPIFB2 Q8N4F0 VAR_024515 p.Lys31Met Polymorphism rs6088066 - BPIFB2 Q8N4F0 VAR_036550 p.Ala20Val Unclassified - A colorectal cancer sample BPIFB2 Q8N4F0 VAR_049740 p.Ala63Val Polymorphism rs34128772 - BPIFB3 P59826 VAR_049742 p.Val228Met Polymorphism rs4911290 - BPIFB3 P59826 VAR_049743 p.Thr290Met Polymorphism rs2093066 - BPIFB3 P59826 VAR_049744 p.His334Gln Polymorphism rs6057717 - BPIFB3 P59826 VAR_049745 p.Tyr369Cys Polymorphism rs6059063 - BPIFB3 P59826 VAR_049746 p.Pro449Ser Polymorphism rs378098 - BPIFB4 P59827 VAR_055998 p.Asp199Gly Polymorphism rs4339026 - BPIFB4 P59827 VAR_055999 p.Gly206Trp Polymorphism rs2424943 - BPIFB4 P59827 VAR_056000 p.Ile268Val Polymorphism rs2070325 - BPIFB4 P59827 VAR_056001 p.Asn320Thr Polymorphism rs2889732 - BPIFB4 P59827 VAR_059372 p.Gly167Trp Polymorphism rs2424943 - BPIFB4 P59827 VAR_059373 p.Ile229Val Polymorphism rs2070325 - BPIFB6 Q8NFQ5 VAR_024518 p.Val97Ile Polymorphism rs2070317 - BPIFB6 Q8NFQ5 VAR_033632 p.Thr16Met Polymorphism rs17301126 - BPIFB6 Q8NFQ5 VAR_033633 p.Pro149Thr Polymorphism rs11907355 - BPIFB6 Q8NFQ5 VAR_033634 p.Ser347Gly Polymorphism rs4911287 - BPIFB6 Q8NFQ5 VAR_065088 p.Arg296His Unclassified - - BPIFC Q8NFQ6 VAR_024516 p.Val269Ala Polymorphism rs2076051 - BPIFC Q8NFQ6 VAR_024517 p.Ser451Pro Polymorphism rs5998478 - BPIFC Q8NFQ6 VAR_033631 p.Val302Leu Polymorphism rs5994570 - BPIFC Q8NFQ6 VAR_049741 p.Glu479Ala Polymorphism rs35856742 - BPI P17213 VAR_018401 p.Ala16Val Polymorphism rs1341023 - BPI P17213 VAR_018402 p.Ala196Val Polymorphism rs5743509 - BPI P17213 VAR_018403 p.Glu216Lys Polymorphism rs4358188 - BPI P17213 VAR_049728 p.Ala12Thr Polymorphism rs5743497 - BPI P17213 VAR_049729 p.Ala12Val Polymorphism rs5743498 - BPI P17213 VAR_049730 p.Arg90Cys Polymorphism rs5743500 - BPI P17213 VAR_049732 p.Glu140Gln Polymorphism rs5743506 - BPI P17213 VAR_049733 p.Ala280Val Polymorphism rs5741804 - BPI P17213 VAR_049734 p.Val377Ile Polymorphism rs5743524 - BPI P17213 VAR_049735 p.Asn404Asp Polymorphism rs5741809 - BPI P17213 VAR_049736 p.Lys451Glu Polymorphism rs5743542 - BRAF P15056 VAR_018512 p.Gly466Val Disease - Lung cancer (LNCR) [MIM:211980] BRAF P15056 VAR_018513 p.Leu597Arg Disease - Lung cancer (LNCR) [MIM:211980] BRAF P15056 VAR_018613 p.Arg462Ile Disease - Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018614 p.Ile463Ser Disease - Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018615 p.Gly464Glu Disease - Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018616 p.Gly464Val Unclassified - A colorectal cancer cell line BRAF P15056 VAR_018617 p.Gly466Ala Unclassified - Melanoma BRAF P15056 VAR_018618 p.Gly466Glu Unclassified - Melanoma BRAF P15056 VAR_018620 p.Gly469Ala Disease - Non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF P15056 VAR_018621 p.Gly469Glu Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_018622 p.Gly469Arg Disease - Non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF P15056 VAR_018623 p.Glu586Lys Unclassified - Ovarian cancer BRAF P15056 VAR_018624 p.Asp594Gly Disease - Non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF P15056 VAR_018625 p.Phe595Leu Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_018625 p.Phe595Leu Unclassified - Colon cancer BRAF P15056 VAR_018626 p.Gly596Arg Unclassified - A colorectal adenocarcinoma sample BRAF P15056 VAR_018627 p.Leu597Val Disease - Noonan syndrome type 7 (NS7) [MIM:613706] BRAF P15056 VAR_018628 p.Val600Asp Unclassified - A melanoma cell line BRAF P15056 VAR_018629 p.Val600Glu Unclassified - Sarcoma BRAF P15056 VAR_018630 p.Lys601Glu Disease - Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_026113 p.Ala246Pro Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_026114 p.Gln257Arg Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_026115 p.Leu485Phe Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_026116 p.Lys499Glu Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_026117 p.Glu501Gly Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_026118 p.Glu501Lys Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_026119 p.Asn581Asp Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_035096 p.Ser467Ala Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_035097 p.Phe468Ser Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_035098 p.Gly596Val Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_040391 p.Pro301Ser Polymorphism rs34776339 - BRAF P15056 VAR_040392 p.Gly469Val Unclassified - A colorectal adenocarcinoma sample BRAF P15056 VAR_040393 p.Asn581Ser Unclassified - A colorectal adenocarcinoma sample BRAF P15056 VAR_058620 p.Thr241Met Unclassified - - BRAF P15056 VAR_058621 p.Thr241Pro Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_058621 p.Thr241Pro Disease - LEOPARD syndrome type 3 (LEOPARD3) [MIM:613707] BRAF P15056 VAR_058622 p.Thr241Arg Unclassified - - BRAF P15056 VAR_058623 p.Leu245Phe Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_058624 p.Glu275Lys Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_058625 p.Lys499Asn Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_058626 p.Leu525Pro Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_058627 p.Trp531Cys Disease - Noonan syndrome type 7 (NS7) [MIM:613706] BRAF P15056 VAR_058628 p.Thr599Arg Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_058629 p.Lys601Gln Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_058630 p.Asp638Glu Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_058631 p.Gln709Arg Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_065171 p.Thr244Pro Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_065172 p.Gln262Lys Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAF P15056 VAR_065173 p.Asn580Asp Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] BRAT1 Q6PJG6 VAR_031202 p.Arg20Gly Polymorphism rs17856488 - BRAT1 Q6PJG6 VAR_061594 p.Arg737Trp Polymorphism rs60152725 - BRCA1 P38398 VAR_007754 p.Val11Ala Unclassified - - BRCA1 P38398 VAR_007755 p.Ile21Val Unclassified - - BRCA1 P38398 VAR_007756 p.Leu22Ser Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007757 p.Cys61Gly Disease rs28897672 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007757 p.Cys61Gly Disease rs28897672 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_007758 p.Cys64Gly Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007759 p.Cys64Tyr Polymorphism rs55851803 - BRCA1 P38398 VAR_007760 p.His239Arg Polymorphism - - BRCA1 P38398 VAR_007761 p.Val271Met Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007762 p.Gln356Arg Polymorphism rs1799950 - BRCA1 P38398 VAR_007764 p.Ile379Met Polymorphism rs56128296 - BRCA1 P38398 VAR_007765 p.Phe461Leu Disease rs56046357 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007766 p.Tyr465Asp Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007767 p.Arg507Ile Unclassified - - BRCA1 P38398 VAR_007768 p.Gly552Val Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007769 p.Asp693Asn Polymorphism rs4986850 - BRCA1 P38398 VAR_007770 p.Val772Ala Polymorphism - - BRCA1 P38398 VAR_007771 p.Lys820Glu Polymorphism - - BRCA1 P38398 VAR_007772 p.Thr826Lys Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007773 p.Arg841Trp Unclassified rs1800709 - BRCA1 P38398 VAR_007774 p.Pro871Leu Polymorphism rs799917 - BRCA1 P38398 VAR_007775 p.Leu892Ser Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007776 p.Gly960Asp Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007777 p.Met1008Ile Polymorphism rs1800704 - BRCA1 P38398 VAR_007778 p.Thr1025Ile Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007779 p.Glu1038Gly Polymorphism rs16941 - BRCA1 P38398 VAR_007780 p.Ser1040Asn Polymorphism rs4986852 - BRCA1 P38398 VAR_007781 p.Val1047Ala Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007782 p.Pro1150Ser Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007783 p.Lys1183Arg Polymorphism rs16942 - BRCA1 P38398 VAR_007784 p.Glu1219Asp Unclassified - - BRCA1 P38398 VAR_007785 p.Arg1347Gly Polymorphism - - BRCA1 P38398 VAR_007786 p.Ser1431Pro Polymorphism - - BRCA1 P38398 VAR_007787 p.Arg1443Gly Polymorphism - - BRCA1 P38398 VAR_007788 p.Ser1512Ile Polymorphism rs1800744 - BRCA1 P38398 VAR_007789 p.Thr1561Ile Unclassified - - BRCA1 P38398 VAR_007790 p.Lys1606Glu Unclassified - - BRCA1 P38398 VAR_007791 p.Ser1613Gly Polymorphism rs1799966 - BRCA1 P38398 VAR_007792 p.Met1628Val Unclassified - - BRCA1 P38398 VAR_007793 p.Met1628Thr Unclassified rs4986854 - BRCA1 P38398 VAR_007794 p.Pro1637Leu Polymorphism - - BRCA1 P38398 VAR_007795 p.Met1652Ile Polymorphism rs1799967 - BRCA1 P38398 VAR_007796 p.Ala1708Glu Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007797 p.Val1713Gly Polymorphism - - BRCA1 P38398 VAR_007798 p.Pro1749Arg Unclassified - - BRCA1 P38398 VAR_007799 p.Met1775Arg Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_008759 p.Glu227Lys Unclassified - - BRCA1 P38398 VAR_008760 p.Pro346Ser Unclassified - - BRCA1 P38398 VAR_008761 p.Lys1406Asn Polymorphism rs1800707 - BRCA1 P38398 VAR_008762 p.Ala1641Pro Unclassified rs1800726 - BRCA1 P38398 VAR_008763 p.Asp1692Asn Unclassified - - BRCA1 P38398 VAR_008764 p.Pro1776Ser Unclassified rs1800757 - BRCA1 P38398 VAR_008765 p.Pro1812Ser Unclassified rs1800751 - BRCA1 P38398 VAR_019944 p.Gly275Ser Polymorphism rs8176153 - BRCA1 P38398 VAR_019945 p.Ser1140Gly Polymorphism rs2227945 - BRCA1 P38398 VAR_019946 p.Thr1620Ala Polymorphism rs8176219 - BRCA1 P38398 VAR_020110 p.Asn723Asp Polymorphism rs4986845 - BRCA1 P38398 VAR_020111 p.Phe989Ser Polymorphism rs4986848 - BRCA1 P38398 VAR_020112 p.Arg1443Gln Polymorphism rs4986849 - BRCA1 P38398 VAR_020679 p.Glu10Lys Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020679 p.Glu10Lys Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020680 p.Glu23Lys Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020680 p.Glu23Lys Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020681 p.Arg71Lys Unclassified - - BRCA1 P38398 VAR_020682 p.Asn656Ile Polymorphism - - BRCA1 P38398 VAR_020683 p.Asp749Tyr Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020684 p.His835Tyr Unclassified - - BRCA1 P38398 VAR_020685 p.Tyr856His Unclassified - - BRCA1 P38398 VAR_020686 p.Arg866Gln Unclassified - - BRCA1 P38398 VAR_020687 p.His888Tyr Unclassified - - BRCA1 P38398 VAR_020688 p.Glu1060Ala Polymorphism - - BRCA1 P38398 VAR_020689 p.Ser1139Ile Unclassified - - BRCA1 P38398 VAR_020690 p.Ser1187Ile Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020690 p.Ser1187Ile Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020691 p.Gln1200His Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020691 p.Gln1200His Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020692 p.Arg1204Ile Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020693 p.Lys1207Asn Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020694 p.Glu1210Gly Unclassified - - BRCA1 P38398 VAR_020695 p.Ser1217Tyr Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020695 p.Ser1217Tyr Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020696 p.Phe1226Leu Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020697 p.Arg1243Gly Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020698 p.Ser1297Pro Unclassified - - BRCA1 P38398 VAR_020699 p.Met1411Thr Unclassified - - BRCA1 P38398 VAR_020700 p.Val1665Met Polymorphism - - BRCA1 P38398 VAR_020701 p.Lys1690Gln Unclassified - - BRCA1 P38398 VAR_020702 p.Cys1697Arg Disease - Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_020703 p.Arg1699Trp Disease - Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_020704 p.Leu1786Pro Unclassified - - BRCA1 P38398 VAR_021913 p.Ile925Leu Polymorphism rs4986847 - BRCA1 P38398 VAR_035947 p.Leu30Phe Unclassified - A breast cancer sample BRCA1 P38398 VAR_035948 p.Leu758Phe Unclassified - A breast cancer sample BRCA1 P38398 VAR_035949 p.Gly778Cys Unclassified - A breast cancer sample BRCA1 P38398 VAR_052077 p.Ser153Arg Polymorphism rs28897674 - BRCA1 P38398 VAR_052078 p.Asn1236Lys Polymorphism rs28897687 - BRCA1 P38398 VAR_052079 p.Glu1250Lys Polymorphism rs28897686 - BRCA1 P38398 VAR_052080 p.Phe1662Cys Polymorphism rs28897695 - BRCA1 P38398 VAR_063212 p.Met1775Lys Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063899 p.Met18Thr Unclassified - - BRCA1 P38398 VAR_063900 p.Arg1495Met Unclassified - - BRCA1 P38398 VAR_063901 p.Ala1623Gly Unclassified - - BRCA1 P38398 VAR_063902 p.Thr1685Ala Unclassified - - BRCA1 P38398 VAR_063903 p.Thr1685Ile Unclassified - - BRCA1 P38398 VAR_063904 p.Met1689Arg Unclassified - - BRCA1 P38398 VAR_063905 p.Gly1706Glu Unclassified - - BRCA1 P38398 VAR_063906 p.Ser1715Arg Unclassified - - BRCA1 P38398 VAR_063907 p.Gly1738Arg Unclassified - - BRCA1 P38398 VAR_063908 p.Leu1764Pro Unclassified - - BRCA1 P38398 VAR_063909 p.Ile1766Ser Unclassified - - BRCA1 P38398 VAR_063910 p.Gly1788Val Unclassified - - BRCA2 P51587 VAR_005085 p.Phe32Leu Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005086 p.Lys53Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005087 p.Ala75Pro Unclassified rs28897701 - BRCA2 P51587 VAR_005088 p.Phe81Leu Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005089 p.Pro201Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005090 p.Val211Ala Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005091 p.Pro222Ser Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005092 p.Asn289His Polymorphism rs766173 - BRCA2 P51587 VAR_005093 p.Val355Leu Unclassified - Lung cancer BRCA2 P51587 VAR_005094 p.His372Asn Polymorphism rs144848 - BRCA2 P51587 VAR_005095 p.Cys554Trp Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005096 p.Thr630Ile Unclassified - Ovarian cancer BRCA2 P51587 VAR_005097 p.Asp728Ala Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005098 p.Asn991Asp Polymorphism rs1799944 - BRCA2 P51587 VAR_005099 p.Asn1147Ser Polymorphism rs1799951 - BRCA2 P51587 VAR_005101 p.Gly1529Arg Unclassified - Bladder cancer BRCA2 P51587 VAR_005102 p.Asn1880Lys Polymorphism rs11571657 - BRCA2 P51587 VAR_005103 p.Thr1915Met Polymorphism rs4987117 - BRCA2 P51587 VAR_005104 p.Arg2034Cys Polymorphism rs1799954 - BRCA2 P51587 VAR_005105 p.Gly2274Val Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005106 p.His2415Asn Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005107 p.Gln2421His Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005108 p.Asp3095Glu Unclassified - - BRCA2 P51587 VAR_005109 p.Ile3103Met Unclassified - Melanoma BRCA2 P51587 VAR_005110 p.Met3118Thr Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005111 p.Thr3357Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005112 p.Ile3412Val Polymorphism rs1801426 - BRCA2 P51587 VAR_008766 p.Asn108His Polymorphism - - BRCA2 P51587 VAR_008767 p.Lys327Glu Unclassified - - BRCA2 P51587 VAR_008768 p.Thr582Pro Polymorphism - - BRCA2 P51587 VAR_008769 p.Asp707Tyr Polymorphism - - BRCA2 P51587 VAR_008770 p.Met784Val Polymorphism rs11571653 - BRCA2 P51587 VAR_008771 p.Asn886Ile Polymorphism - - BRCA2 P51587 VAR_008772 p.Asp935Asn Unclassified rs28897716 - BRCA2 P51587 VAR_008774 p.Cys1290Tyr Polymorphism - - BRCA2 P51587 VAR_008775 p.Thr1414Met Polymorphism - - BRCA2 P51587 VAR_008776 p.Asp1420Tyr Polymorphism - - BRCA2 P51587 VAR_008777 p.Asp1513Asn Polymorphism - - BRCA2 P51587 VAR_008778 p.Glu1593Asp Polymorphism - - BRCA2 P51587 VAR_008779 p.Gly1771Asp Unclassified - - BRCA2 P51587 VAR_008780 p.Asn1805Ser Polymorphism - - BRCA2 P51587 VAR_008781 p.Asp1902Asn Polymorphism - - BRCA2 P51587 VAR_008782 p.His2074Asn Polymorphism - - BRCA2 P51587 VAR_008783 p.Glu2089Asp Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008784 p.Val2138Phe Polymorphism - - BRCA2 P51587 VAR_008785 p.Ala2466Val Polymorphism - - BRCA2 P51587 VAR_008786 p.Leu2480Val Polymorphism - - BRCA2 P51587 VAR_008787 p.Ile2490Thr Polymorphism - - BRCA2 P51587 VAR_008788 p.Arg2502His Unclassified - - BRCA2 P51587 VAR_008789 p.Thr2515Ile Unclassified - - BRCA2 P51587 VAR_008790 p.Arg2787His Unclassified - Ovarian cancer BRCA2 P51587 VAR_008791 p.Ile2944Phe Polymorphism - - BRCA2 P51587 VAR_008792 p.Ala2951Thr Polymorphism - - BRCA2 P51587 VAR_008793 p.Val2969Met Polymorphism - - BRCA2 P51587 VAR_008794 p.Tyr3098His Unclassified - - BRCA2 P51587 VAR_008795 p.Lys3257Arg Polymorphism - - BRCA2 P51587 VAR_008796 p.Arg3276Ser Polymorphism - - BRCA2 P51587 VAR_018661 p.Thr2722Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_018908 p.Lys322Gln Polymorphism rs11571640 - BRCA2 P51587 VAR_018909 p.Leu929Ser Polymorphism rs2227943 - BRCA2 P51587 VAR_018910 p.Ser976Phe Polymorphism rs11571656 - BRCA2 P51587 VAR_018911 p.Asn987Ile Polymorphism rs2227944 - BRCA2 P51587 VAR_018912 p.His1561Asn Polymorphism - - BRCA2 P51587 VAR_018913 p.Lys2162Arg Polymorphism - - BRCA2 P51587 VAR_018914 p.His2440Arg Polymorphism - - BRCA2 P51587 VAR_018915 p.Ser2835Pro Polymorphism - - BRCA2 P51587 VAR_018916 p.Glu2856Ala Polymorphism - - BRCA2 P51587 VAR_018917 p.Val3244Ile Polymorphism - - BRCA2 P51587 VAR_020705 p.Tyr42Cys Unclassified rs4987046 - BRCA2 P51587 VAR_020706 p.Asn60Ser Unclassified - - BRCA2 P51587 VAR_020707 p.Gly405Arg Unclassified - - BRCA2 P51587 VAR_020708 p.Thr431Ile Unclassified - - BRCA2 P51587 VAR_020709 p.Arg448His Unclassified - - BRCA2 P51587 VAR_020710 p.Glu462Gly Unclassified rs56403624 - BRCA2 P51587 VAR_020711 p.Thr598Ala Polymorphism rs28897710 - BRCA2 P51587 VAR_020712 p.Leu613Arg Unclassified - - BRCA2 P51587 VAR_020713 p.Glu1036Lys Unclassified - - BRCA2 P51587 VAR_020714 p.Ser1106Arg Unclassified - - BRCA2 P51587 VAR_020715 p.Ser1179Asn Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020716 p.Asn1279Ser Polymorphism - - BRCA2 P51587 VAR_020717 p.Lys1445Thr Unclassified - - BRCA2 P51587 VAR_020718 p.Phe1524Val Unclassified - - BRCA2 P51587 VAR_020719 p.Cys1580Tyr Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020720 p.Thr1679Ile Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020721 p.Val1804Ala Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020722 p.Glu1901Lys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020723 p.Ile1929Val Unclassified - - BRCA2 P51587 VAR_020724 p.Thr2031Ala Unclassified - - BRCA2 P51587 VAR_020725 p.Ser2072Cys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020726 p.Tyr2094Cys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020727 p.Pro2096Leu Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020728 p.Val2118Leu Unclassified - - BRCA2 P51587 VAR_020729 p.Lys2128Asn Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020730 p.Glu2275Gly Unclassified - - BRCA2 P51587 VAR_020731 p.Phe2293Leu Unclassified - - BRCA2 P51587 VAR_020732 p.Gly2353Arg Unclassified - - BRCA2 P51587 VAR_020733 p.Arg2488Lys Unclassified - - BRCA2 P51587 VAR_020734 p.Asn2706Ser Polymorphism - - BRCA2 P51587 VAR_020735 p.Asp2723His Unclassified - - BRCA2 P51587 VAR_020736 p.Val2728Ile Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020737 p.Lys2729Asn Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020738 p.Gly2793Arg Unclassified - - BRCA2 P51587 VAR_020739 p.Lys2950Asn Unclassified - - BRCA2 P51587 VAR_020740 p.Thr3013Ile Unclassified - - BRCA2 P51587 VAR_020741 p.Pro3063Ser Unclassified - - BRCA2 P51587 VAR_020742 p.Gly3076Glu Polymorphism - - BRCA2 P51587 VAR_020743 p.Asn3124Ile Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020744 p.Lys3196Glu Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020745 p.Thr3374Ile Polymorphism - - BRCA2 P51587 VAR_028167 p.Gly25Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_028168 p.Trp31Cys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_028169 p.Trp31Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032712 p.Thr64Ile Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032713 p.Arg118His Unclassified - One patient with esophageal carcinoma BRCA2 P51587 VAR_032714 p.Met192Thr Unclassified - One patient with pancreatic cancer BRCA2 P51587 VAR_032715 p.Thr225Ala Unclassified - - BRCA2 P51587 VAR_032716 p.Cys315Ser Unclassified - One patient with esophageal carcinoma BRCA2 P51587 VAR_032717 p.Ser326Arg Disease rs28897706 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032718 p.Ile505Thr Disease rs28897708 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032719 p.Ile729Met Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032720 p.Ser1172Leu Unclassified - - BRCA2 P51587 VAR_032721 p.Leu1522Phe Unclassified - - BRCA2 P51587 VAR_032722 p.Lys1690Asn Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032723 p.Asn1730Tyr Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032724 p.Thr1887Met Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032725 p.Val1988Ile Unclassified - One patient with esophageal carcinoma BRCA2 P51587 VAR_032726 p.Gly2044Val Unclassified - - BRCA2 P51587 VAR_032727 p.Arg2108Cys Polymorphism - - BRCA2 P51587 VAR_032728 p.Asn2135His Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032729 p.Tyr2222Cys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032730 p.Arg2336His Disease - Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724] BRCA2 P51587 VAR_032731 p.Gln2456Glu Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032732 p.Leu2510Pro Disease - Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724] BRCA2 P51587 VAR_032733 p.Trp2626Cys Disease - Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724] BRCA2 P51587 VAR_032734 p.Arg2842Cys Unclassified - One patient with esophageal carcinoma BRCA2 P51587 VAR_032735 p.Pro3300Ser Unclassified - One patient with esophageal carcinoma BRCA2 P51587 VAR_035436 p.Ser599Phe Polymorphism rs1046984 - BRCA2 P51587 VAR_056751 p.Lys513Arg Polymorphism rs28897709 - BRCA2 P51587 VAR_056752 p.Ile982Leu Polymorphism rs28897717 - BRCA2 P51587 VAR_056753 p.Val1542Met Polymorphism rs28897729 - BRCA2 P51587 VAR_056754 p.Val1643Ala Polymorphism rs28897731 - BRCA2 P51587 VAR_056755 p.Ser1979Arg Polymorphism rs28897737 - BRCA2 P51587 VAR_056756 p.Asp2238Glu Polymorphism rs28897742 - BRCA2 P51587 VAR_056757 p.Arg2336Gln Polymorphism rs28897743 - BRCA2 P51587 VAR_056758 p.Asn2447Asp Polymorphism rs4986859 - BRCA2 P51587 VAR_056759 p.Leu2686Pro Polymorphism rs28897746 - BRCA2 P51587 VAR_056760 p.Leu2792Pro Polymorphism rs28897751 - BRCA2 P51587 VAR_056761 p.Leu3101Arg Polymorphism rs28897758 - BRCA2 P51587 VAR_061563 p.His2116Arg Polymorphism rs55953736 - BRCA2 P51587 VAR_063911 p.Arg2502Cys Unclassified - - BRCA2 P51587 VAR_063912 p.Ile2627Phe Unclassified - - BRCA2 P51587 VAR_063913 p.Leu2653Pro Unclassified - - BRCA2 P51587 VAR_063914 p.Arg2659Lys Unclassified - - BRCA2 P51587 VAR_063915 p.Glu2663Val Unclassified - - BRCA2 P51587 VAR_063916 p.Asp2723Gly Unclassified - - BRCA2 P51587 VAR_063917 p.Gly2748Asp Unclassified - - BRCA2 P51587 VAR_063918 p.Arg3052Trp Unclassified - - BRCC3 P46736 VAR_050097 p.Ile74Val Polymorphism rs28997578 - BRD1 O95696 VAR_048424 p.Arg38Gly Polymorphism rs11549978 - BRD1 O95696 VAR_048425 p.Ala321Ser Polymorphism rs12157714 - BRD1 O95696 VAR_048426 p.Ala730Thr Polymorphism rs35331092 - BRD2 P25440 VAR_022132 p.Leu238Phe Polymorphism rs176250 - BRD2 P25440 VAR_029300 p.Ala474Val Polymorphism rs3918143 - BRD2 P25440 VAR_029301 p.Arg547Lys Polymorphism rs1049369 - BRD2 P25440 VAR_041904 p.Gly30Glu Unclassified - A glioblastoma multiforme sample BRD2 P25440 VAR_041905 p.Ala49Gly Polymorphism - - BRD2 P25440 VAR_041906 p.Ala49Ser Polymorphism rs55669504 - BRD2 P25440 VAR_041907 p.Ala212Pro Polymorphism rs35952031 - BRD2 P25440 VAR_041908 p.Pro260Gln Polymorphism rs35294809 - BRD2 P25440 VAR_041909 p.Arg558Gly Unclassified - A gastric adenocarcinoma sample BRD2 P25440 VAR_041910 p.Ala569Thr Polymorphism rs34530779 - BRD2 P25440 VAR_041911 p.Ala599Pro Polymorphism rs55952113 - BRD2 P25440 VAR_041912 p.Pro714Leu Unclassified - A glioblastoma multiforme sample BRD3 Q15059 VAR_041913 p.Thr36Asn Unclassified - A renal clear cell carcinoma sample BRD3 Q15059 VAR_041914 p.Ala161Thr Unclassified - A gastric adenocarcinoma sample BRD3 Q15059 VAR_041915 p.Ala172Val Polymorphism rs34609592 - BRD3 Q15059 VAR_041916 p.Lys435Gln Polymorphism rs36093130 - BRD3 Q15059 VAR_041917 p.Arg441His Polymorphism rs56017928 - BRD3 Q15059 VAR_041918 p.Ser447Pro Polymorphism rs55754444 - BRD4 O60885 VAR_041919 p.Pro37Ser Polymorphism rs35177876 - BRD4 O60885 VAR_041920 p.Ala371Gly Polymorphism rs55805532 - BRD4 O60885 VAR_041921 p.Ser563Asn Polymorphism rs55970906 - BRD4 O60885 VAR_041922 p.Thr598Ser Polymorphism rs34362023 - BRD4 O60885 VAR_041923 p.Arg669His Polymorphism rs35824241 - BRD4 O60885 VAR_048427 p.Arg1097His Polymorphism rs35676845 - BRD8 Q9H0E9 VAR_030695 p.Thr490Met Polymorphism rs11750814 - BRD8 Q9H0E9 VAR_048428 p.Leu896Pro Polymorphism rs6883021 - BRD8 Q9H0E9 VAR_048429 p.Gln1198Arg Polymorphism rs412051 - BRD9 Q9H8M2 VAR_033635 p.Ala266Thr Polymorphism rs34292369 - BRD9 Q9H8M2 VAR_033636 p.Ala389Thr Polymorphism rs414349 - BRD9 Q9H8M2 VAR_059143 p.Ala170Thr Polymorphism rs34292369 - BRDT Q58F21 VAR_026584 p.Gln62Lys Polymorphism rs10783071 - BRDT Q58F21 VAR_026585 p.Lys238Asn Polymorphism rs1156281 - BRDT Q58F21 VAR_026586 p.Asn410Lys Polymorphism rs3088232 - BRDT Q58F21 VAR_041924 p.Ser2Phe Polymorphism rs55806733 - BRDT Q58F21 VAR_041925 p.Arg6Gln Polymorphism rs56273490 - BRDT Q58F21 VAR_041926 p.Ala89Val Unclassified - A gastric adenocarcinoma sample BRDT Q58F21 VAR_041927 p.His288Tyr Unclassified - A lung neuroendocrine carcinoma sample BRDT Q58F21 VAR_041928 p.Glu357Lys Polymorphism rs34674879 - BRDT Q58F21 VAR_041929 p.Pro542Ala Polymorphism rs55912588 - BRDT Q58F21 VAR_047327 p.Lys336Thr Polymorphism rs1064567 - BRDT Q58F21 VAR_047328 p.Arg605Gln Polymorphism rs35327986 - BRDT Q58F21 VAR_047329 p.Pro696Leu Polymorphism rs10747493 - BRF1 Q92994 VAR_035723 p.Val542Met Unclassified - A colorectal cancer sample BRI3 O95415 VAR_033516 p.Thr123Ala Polymorphism rs12865 - BRICD5 Q6PL45 VAR_031629 p.Val46Ile Polymorphism rs26857 - BRICD5 Q6PL45 VAR_061620 p.Ser31Gly Polymorphism rs26856 - BRICD5 Q6PL45 VAR_061621 p.His122Tyr Polymorphism rs58292351 - BRIP1 Q9BX63 VAR_020896 p.Pro47Ala Disease rs28903098 Breast cancer (BC) [MIM:114480] BRIP1 Q9BX63 VAR_020897 p.Arg173Cys Polymorphism rs4988345 - BRIP1 Q9BX63 VAR_020898 p.Val193Ile Polymorphism rs4988346 - BRIP1 Q9BX63 VAR_020899 p.Leu195Pro Polymorphism rs4988347 - BRIP1 Q9BX63 VAR_020900 p.Met299Ile Disease - Breast cancer (BC) [MIM:114480] BRIP1 Q9BX63 VAR_020901 p.Arg419Trp Polymorphism - - BRIP1 Q9BX63 VAR_020902 p.Phe531Val Polymorphism rs4988350 - BRIP1 Q9BX63 VAR_020903 p.Gln540Leu Polymorphism rs4988349 - BRIP1 Q9BX63 VAR_020904 p.Cys832Tyr Polymorphism rs4988355 - BRIP1 Q9BX63 VAR_020905 p.Pro919Ser Polymorphism rs4986764 - BRIP1 Q9BX63 VAR_020906 p.Val935Gly Polymorphism rs4988356 - BRIP1 Q9BX63 VAR_020907 p.Pro1034Leu Unclassified - - BRIP1 Q9BX63 VAR_023700 p.Gln255His Disease - Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_023701 p.Arg264Trp Polymorphism rs28997569 - BRIP1 Q9BX63 VAR_023702 p.Ala349Pro Disease - Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_023703 p.Trp647Cys Disease - Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_023704 p.Arg707Cys Disease - Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_052192 p.Ile633Met Polymorphism rs28997572 - BRIP1 Q9BX63 VAR_052193 p.Asp1148Glu Polymorphism rs28997573 - BROMI Q96NH3 VAR_046958 p.Arg82Gln Polymorphism rs7767455 - BROMI Q96NH3 VAR_046959 p.Ile280Val Polymorphism rs9490157 - BROMI Q96NH3 VAR_046960 p.Thr375Lys Polymorphism rs9387944 - BROMI Q96NH3 VAR_046961 p.Ile599Val Polymorphism rs7745023 - BRPF1 P55201 VAR_028232 p.Gly1117Glu Polymorphism rs1042294 - BRPF1 P55201 VAR_048430 p.His1193Gln Polymorphism rs36081837 - BRPF3 Q9ULD4 VAR_048431 p.Ala278Gly Polymorphism rs17658935 - BRPF3 Q9ULD4 VAR_061042 p.Ser177Gly Polymorphism rs45504893 - BRS3 P32247 VAR_011844 p.Thr53Pro Polymorphism rs5232 - BRS3 P32247 VAR_011845 p.Leu162Gln Polymorphism rs5234 - BRSK1 Q8TDC3 VAR_040394 p.Arg303Trp Unclassified - A gastric adenocarcinoma sample BRSK1 Q8TDC3 VAR_040395 p.Val319Ile Unclassified - A lung large cell carcinoma sample BRSK1 Q8TDC3 VAR_040396 p.Gly391Glu Unclassified - A metastatic melanoma sample BRSK1 Q8TDC3 VAR_040397 p.Thr531Asn Polymorphism rs55892637 - BRSK1 Q8TDC3 VAR_040398 p.Gly749Ser Polymorphism - - BRSK1 Q8TDC3 VAR_040399 p.Pro764Ala Polymorphism rs55796422 - BRWD1 Q9NSI6 VAR_026435 p.Gln83Glu Polymorphism rs2056844 - BRWD1 Q9NSI6 VAR_026436 p.Ser1511Pro Polymorphism rs2183573 - BRWD1 Q9NSI6 VAR_026437 p.Leu1699Pro Polymorphism rs1041439 - BRWD1 Q9NSI6 VAR_057584 p.Lys2156Arg Polymorphism rs2234548 - BRWD3 Q6RI45 VAR_031491 p.Lys1288Arg Polymorphism rs3122407 - BRWD3 Q6RI45 VAR_036940 p.Lys1596Glu Disease - Mental retardation X-linked type 93 (MRX93) [MIM:300659] BSCL2 Q96G97 VAR_022375 p.Asn88Ser Disease - Distal hereditary motor neuronopathy type 5A (HMN5A) [MIM:600794] BSCL2 Q96G97 VAR_022375 p.Asn88Ser Disease - Spastic paraplegia type 17 (SPG17) [MIM:270685] BSCL2 Q96G97 VAR_022376 p.Ser90Leu Disease - Distal hereditary motor neuronopathy type 5A (HMN5A) [MIM:600794] BSCL2 Q96G97 VAR_022376 p.Ser90Leu Disease - Spastic paraplegia type 17 (SPG17) [MIM:270685] BSCL2 Q96G97 VAR_022377 p.Ala212Pro Disease - Congenital generalized lipodystrophy type 2 (CGL2) [MIM:269700] BSG P35613 VAR_011720 p.Gly269Val Polymorphism rs1803203 - BSG P35613 VAR_013574 p.Glu208Lys Unclassified - - BSND Q8WZ55 VAR_019783 p.Arg8Leu Disease - Bartter syndrome type 4A (BS4A) [MIM:602522] BSND Q8WZ55 VAR_019784 p.Arg8Trp Disease - Bartter syndrome type 4A (BS4A) [MIM:602522] BSND Q8WZ55 VAR_019785 p.Gly10Ser Disease - Bartter syndrome type 4A (BS4A) [MIM:602522] BSND Q8WZ55 VAR_019786 p.Gly47Arg Disease - Bartter syndrome type 4A (BS4A) [MIM:602522] BSND Q8WZ55 VAR_061564 p.Val43Ile Polymorphism rs34561376 - BSN Q9UPA5 VAR_055105 p.Ala741Thr Polymorphism rs34762726 - BSN Q9UPA5 VAR_055106 p.Gly1213Asp Polymorphism rs35762866 - BSN Q9UPA5 VAR_055107 p.Ala3863Thr Polymorphism rs2005557 - BSPRY Q5W0U4 VAR_026882 p.Gln293His Polymorphism rs818711 - BSPRY Q5W0U4 VAR_026883 p.Thr374Ile Polymorphism rs3088235 - BSPRY Q5W0U4 VAR_048397 p.Ala261Pro Polymorphism rs34089316 - BST1 Q10588 VAR_021964 p.Arg125His Polymorphism rs2302465 - BST1 Q10588 VAR_021965 p.Arg145Gln Polymorphism rs2302464 - BST1 Q10588 VAR_028438 p.Ala77Val Polymorphism rs2302466 - BST1 Q10588 VAR_028439 p.Ile101Val Polymorphism rs6840615 - BST2 Q10589 VAR_012067 p.Val143Phe Polymorphism rs1804402 - BTBD10 Q9BSF8 VAR_033638 p.Thr145Ala Polymorphism rs34185489 - BTBD11 A6QL63 VAR_042534 p.Ala1002Asp Polymorphism rs11610050 - BTBD11 A6QL63 VAR_042535 p.Gly1076Ser Polymorphism rs12303478 - BTBD11 A6QL63 VAR_055560 p.Gly448Ser Polymorphism rs1558781 - BTBD16 Q32M84 VAR_027070 p.Arg318Gln Polymorphism rs2421013 - BTBD16 Q32M84 VAR_027071 p.Gly331Asp Polymorphism rs986178 - BTBD16 Q32M84 VAR_027072 p.His439Pro Polymorphism rs1048347 - BTBD16 Q32M84 VAR_027073 p.Gln472Arg Polymorphism rs10510108 - BTBD18 B2RXH4 VAR_063155 p.Ser302Thr Polymorphism rs78162678 - BTBD18 B2RXH4 VAR_063156 p.Glu352Gly Polymorphism rs77600568 - BTBD19 C9JJ37 VAR_063157 p.Glu110Gly Polymorphism rs78531751 - BTBD8 Q5XKL5 VAR_033637 p.Lys136Arg Polymorphism rs17131602 - BTBD8 Q5XKL5 VAR_048436 p.Val60Ile Polymorphism rs34856868 - BTC P35070 VAR_029307 p.Cys7Gly Polymorphism rs28549760 - BTC P35070 VAR_029308 p.Leu124Met Polymorphism rs11938093 - BTC P35070 VAR_061151 p.Leu44Phe Polymorphism rs56320257 - BTD P43251 VAR_005113 p.Phe128Val Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005114 p.Ala171Thr Disease rs13073139 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005115 p.Asp228Tyr Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005116 p.His323Arg Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005117 p.Asp444His Disease rs13078881 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005118 p.Gly451Asp Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005119 p.Gln456His Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005120 p.Thr532Met Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005121 p.Arg538Cys Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_056238 p.Pro391Ser Polymorphism rs35034250 - BTG1 P62324 VAR_021345 p.Asn139Ser Polymorphism rs28399541 - BTG1 P62324 VAR_021346 p.Gln141Glu Polymorphism rs28399542 - BTG2 P78543 VAR_048437 p.Val153Met Polymorphism rs12039961 - BTK Q06187 VAR_006216 p.Leu11Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006217 p.Lys12Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006218 p.Ser14Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006219 p.Phe25Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006220 p.Arg28His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006221 p.Arg28Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006222 p.Thr33Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006223 p.Val64Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006225 p.Val113Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006227 p.Arg288Trp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006228 p.Leu295Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006230 p.Gly302Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006231 p.Arg307Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006232 p.Tyr334Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006233 p.Leu358Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006234 p.Tyr361Cys Disease rs28935478 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006235 p.His362Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006236 p.His364Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006237 p.Asn365Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006238 p.Ile370Met Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006239 p.Leu408Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006240 p.Tyr418His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006241 p.Ile429Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006242 p.Lys430Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006243 p.Tyr476Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006244 p.Met477Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006245 p.Cys502Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006246 p.Cys502Trp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006247 p.Cys506Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006248 p.Cys506Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006249 p.Met509Val Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006251 p.Arg520Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006252 p.Asp521His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006253 p.Asp521Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006254 p.Arg525Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006255 p.Arg525Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006256 p.Asn526Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006257 p.Leu542Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006258 p.Arg544Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006259 p.Arg562Pro Disease rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006260 p.Arg562Trp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006261 p.Glu567Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006262 p.Trp581Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006263 p.Ala582Val Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006264 p.Met587Leu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006265 p.Glu589Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006267 p.Ser592Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006268 p.Gly594Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006269 p.Gly594Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006270 p.Tyr598Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006271 p.Ala607Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006272 p.Gly613Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006273 p.Pro619Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006274 p.Met630Ile Polymorphism - - BTK Q06187 VAR_006275 p.Met630Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006276 p.Cys633Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006277 p.Arg641Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006278 p.Arg641His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006279 p.Phe644Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006280 p.Leu647Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006281 p.Leu652Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008291 p.Lys19Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008292 p.Lys27Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008293 p.Arg28Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008294 p.Tyr40Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008295 p.Tyr40Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008296 p.Ile61Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008297 p.Val64Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008298 p.Ser115Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008299 p.Thr117Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008300 p.Gln127His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008301 p.Cys154Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008302 p.Cys155Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008303 p.Cys155Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008304 p.Thr184Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008305 p.Arg288Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008306 p.Gly302Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008307 p.Arg307Thr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008308 p.Asp308Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008309 p.Val319Ala Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008310 p.Ser366Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008311 p.Leu369Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008312 p.Arg372Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008313 p.Gly414Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008314 p.Lys430Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008315 p.Glu445Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008316 p.Gly462Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008317 p.Gly462Val Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008318 p.Ala508Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008319 p.Met509Ile Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008320 p.Leu518Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008321 p.Asp521Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008322 p.Ala523Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008323 p.Arg525Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008324 p.Val535Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008325 p.Phe559Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008326 p.Trp563Leu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008327 p.Phe583Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008328 p.Glu589Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008330 p.Pro619Ala Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008331 p.Pro619Thr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008332 p.Ala622Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008333 p.Val626Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008334 p.Met630Thr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008335 p.Phe644Leu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008960 p.Tyr39Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008961 p.Leu512Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008962 p.Leu512Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008963 p.Arg544Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008964 p.Ser578Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008965 p.Glu589Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_041676 p.Arg82Lys Polymorphism rs56035945 - BTK Q06187 VAR_041677 p.Pro190Lys Unclassified - A lung large cell carcinoma sample BTLA Q7Z6A9 VAR_027607 p.Arg157Ser Polymorphism rs2931761 - BTLA Q7Z6A9 VAR_027608 p.Pro267Leu Polymorphism rs9288952 - BTLA Q7Z6A9 VAR_056027 p.Ile124Val Polymorphism rs16859633 - BTN1A1 Q13410 VAR_021169 p.Ala213Thr Polymorphism rs3736781 - BTN1A1 Q13410 VAR_026546 p.Asp503Glu Polymorphism rs9393728 - BTN1A1 Q13410 VAR_030770 p.Val303Ala Polymorphism rs1980600 - BTN1A1 Q13410 VAR_061302 p.Pro521Ser Polymorphism rs35555795 - BTN2A1 Q7KYR7 VAR_049825 p.Arg124Cys Polymorphism rs3734539 - BTN2A1 Q7KYR7 VAR_049826 p.Val207Met Polymorphism rs13195509 - BTN2A1 Q7KYR7 VAR_049827 p.Arg378Gln Polymorphism rs3734542 - BTN2A1 Q7KYR7 VAR_049828 p.Gly451Ala Polymorphism rs3734543 - BTN2A1 Q7KYR7 VAR_061303 p.Trp178Cys Polymorphism rs13195402 - BTN2A1 Q7KYR7 VAR_061304 p.Trp178Leu Polymorphism rs13195401 - BTN2A2 Q8WVV5 VAR_049829 p.Pro479Ser Polymorphism rs16891646 - BTN2A3P Q96KV6 VAR_049830 p.Gly79Asp Polymorphism rs7745238 - BTN2A3P Q96KV6 VAR_049831 p.Val148Ile Polymorphism rs10946829 - BTN2A3P Q96KV6 VAR_049832 p.Asn300Ser Polymorphism rs2893848 - BTN3A1 O00481 VAR_021170 p.Ser224Asn Polymorphism rs1057933 - BTN3A1 O00481 VAR_028788 p.Pro456Thr Polymorphism rs4712990 - BTN3A1 O00481 VAR_061305 p.Arg15His Polymorphism rs56161420 - BTN3A1 O00481 VAR_061306 p.Arg282Thr Polymorphism rs41266839 - BTN3A2 P78410 VAR_026211 p.Asn181Asp Polymorphism rs9358936 - BTN3A2 P78410 VAR_049833 p.Arg167Thr Polymorphism rs9379861 - BTN3A2 P78410 VAR_049834 p.Ala182Thr Polymorphism rs12205731 - BTN3A2 P78410 VAR_049835 p.Arg211Lys Polymorphism rs35183513 - BTN3A2 P78410 VAR_049836 p.Ser307Asn Polymorphism rs13216828 - BTNL2 Q9UIR0 VAR_021171 p.Lys196Glu Polymorphism rs2076523 - BTNL2 Q9UIR0 VAR_029128 p.Ser334Leu Polymorphism rs28362679 - BTNL2 Q9UIR0 VAR_033602 p.Trp94Arg Polymorphism rs28362682 - BTNL2 Q9UIR0 VAR_033603 p.Asp283Val Polymorphism rs34423804 - BTNL2 Q9UIR0 VAR_033604 p.Ala352Thr Polymorphism rs35037492 - BTNL2 Q9UIR0 VAR_033605 p.Pro379Leu Polymorphism rs28362678 - BTNL2 Q9UIR0 VAR_033606 p.Met380Ile Polymorphism rs28362677 - BTNL2 Q9UIR0 VAR_033607 p.Pro393Gln Polymorphism rs41521946 - BTNL2 Q9UIR0 VAR_049837 p.Val188Met Polymorphism rs9461742 - BTNL2 Q9UIR0 VAR_049838 p.Ser360Gly Polymorphism rs2076530 - BTNL2 Q9UIR0 VAR_061307 p.Arg181Gln Polymorphism rs28362681 - BTNL2 Q9UIR0 VAR_061308 p.Ala202Val Polymorphism rs28362680 - BTNL8 Q6UX41 VAR_049839 p.Thr143Ala Polymorphism rs2276995 - BTNL8 Q6UX41 VAR_049840 p.Glu229Lys Polymorphism rs7724813 - BTNL9 Q6UXG8 VAR_049841 p.Gly511Arg Polymorphism rs10068763 - BTRC Q9Y297 VAR_020119 p.Pro592His Polymorphism rs2270439 - BTRC Q9Y297 VAR_022027 p.Ala543Ser Polymorphism rs4151060 - BUB1B O60566 VAR_008852 p.Met15Thr Unclassified - A colorectal cancer cell line BUB1B O60566 VAR_008853 p.Arg349Gln Polymorphism rs1801376 - BUB1B O60566 VAR_008854 p.Val618Ala Unclassified rs1801528 Colorectal cancer BUB1B O60566 VAR_028921 p.Arg36Gln Disease - Premature chromatid separation trait (PCS) [MIM:176430] BUB1B O60566 VAR_028922 p.Glu390Asp Polymorphism rs1017842 - BUB1B O60566 VAR_028923 p.Arg550Gln Disease rs28989187 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028924 p.Arg814His Disease rs28989182 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028925 p.Leu844Phe Disease rs28989181 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028926 p.Ile909Thr Disease rs28989184 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028927 p.Gln921His Disease rs28989183 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028928 p.Leu1012Pro Disease rs28989185 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_040402 p.Thr40Met Polymorphism rs56079734 - BUB1B O60566 VAR_054549 p.Pro378Ser Polymorphism rs17851677 - BUB1 O43683 VAR_008849 p.Glu36Asp Unclassified rs1801328 Colorectal cancer BUB1 O43683 VAR_008850 p.Ser492Tyr Unclassified - Colorectal cancer BUB1 O43683 VAR_008851 p.Pro648Arg Unclassified - Colorectal cancer BUB1 O43683 VAR_015687 p.Tyr259Cys Unclassified - Pancreatic cancer BUB1 O43683 VAR_015688 p.His265Asn Unclassified - Pancreatic cancer BUB1 O43683 VAR_040400 p.Gly20Asp Polymorphism rs35890336 - BUB1 O43683 VAR_040401 p.Asn534Asp Polymorphism rs36109304 - BUD13 Q9BRD0 VAR_032343 p.Arg120Cys Polymorphism rs10488698 - BUD13 Q9BRD0 VAR_032344 p.Pro148Leu Polymorphism rs11820589 - BUD13 Q9BRD0 VAR_032345 p.Arg242Ile Polymorphism rs11216131 - BUD13 Q9BRD0 VAR_053908 p.Ser388Cys Polymorphism rs35004487 - BVES Q8NE79 VAR_017155 p.Arg129Trp Polymorphism rs2275289 - BVES Q8NE79 VAR_053600 p.Met127Ile Polymorphism rs9486039 - BYSL Q13895 VAR_033641 p.Glu103Lys Polymorphism rs2296916 - BYSL Q13895 VAR_048439 p.Pro426Ser Polymorphism rs3828855 - BZRAP1 O95153 VAR_017446 p.Gln514Arg Polymorphism rs2072145 - BZRAP1 O95153 VAR_017447 p.Ala586Thr Polymorphism rs2072147 - BZRAP1 O95153 VAR_017448 p.His1118Leu Polymorphism rs3744099 - BZRAP1 O95153 VAR_017449 p.Ala1140Pro Polymorphism rs2680704 - BZRAP1 O95153 VAR_017450 p.Arg1253Cys Polymorphism rs3744101 - BZRAP1 O95153 VAR_017451 p.Gly1830Glu Polymorphism rs2301868 - BZRAP1 O95153 VAR_031662 p.Gln817Arg Polymorphism rs9913145 - BZRAP1 O95153 VAR_031663 p.Trp851Arg Polymorphism rs9905604 - BZRAP1 O95153 VAR_031664 p.His1728Arg Polymorphism rs11079346 - BZW2 Q9Y6E2 VAR_033642 p.Asp44Ala Polymorphism rs35233079 - C10orf111 Q8N326 VAR_050857 p.Arg70Lys Polymorphism rs7896053 - C10orf112 Q5VYJ5 VAR_042585 p.Asp562Ala Polymorphism rs7100382 - C10orf112 Q5VYJ5 VAR_042586 p.Ile573Val Polymorphism rs7100403 - C10orf112 Q5VYJ5 VAR_042587 p.Lys653Asn Polymorphism rs1609746 - C10orf112 Q5VYJ5 VAR_042588 p.Val713Ala Polymorphism rs10827306 - C10orf112 Q5VYJ5 VAR_042589 p.Asp809Gly Polymorphism rs12773592 - C10orf112 Q5VYJ5 VAR_042590 p.Glu812Lys Polymorphism rs12771333 - C10orf112 Q5VYJ5 VAR_042591 p.Thr917Met Polymorphism rs10763974 - C10orf112 Q5VYJ5 VAR_042592 p.Val958Ile Polymorphism rs10763975 - C10orf112 Q5VYJ5 VAR_042593 p.Lys1033Glu Polymorphism rs2184035 - C10orf112 Q5VYJ5 VAR_042594 p.Leu1049Ile Polymorphism rs16918863 - C10orf112 Q5VYJ5 VAR_042595 p.His1087Gln Polymorphism rs12256835 - C10orf112 Q5VYJ5 VAR_042596 p.Met1173Thr Polymorphism rs7100661 - C10orf112 Q5VYJ5 VAR_042597 p.Pro1261Ser Polymorphism rs16919132 - C10orf112 Q5VYJ5 VAR_042598 p.Ser1307Asn Polymorphism rs10827628 - C10orf112 Q5VYJ5 VAR_042599 p.Met1379Arg Polymorphism rs16919148 - C10orf113 Q5VZT2 VAR_028801 p.Asp110His Polymorphism rs625223 - C10orf113 Q5VZT2 VAR_050858 p.Arg72Gly Polymorphism rs11591355 - C10orf114 Q5T4H9 VAR_033739 p.Arg73Pro Polymorphism rs11012724 - C10orf118 Q7Z3E2 VAR_023047 p.Thr85Ile Polymorphism rs1061159 - C10orf118 Q7Z3E2 VAR_023048 p.Arg179Gln Polymorphism rs12782946 - C10orf118 Q7Z3E2 VAR_023049 p.Gln271Lys Polymorphism rs7095762 - C10orf11 Q9H2I8 VAR_033686 p.Ser153Phe Polymorphism rs35349706 - C10orf120 Q5SQS8 VAR_050859 p.Thr20Lys Polymorphism rs41448048 - C10orf120 Q5SQS8 VAR_050860 p.Ala269Thr Polymorphism rs2947594 - C10orf128 Q5T292 VAR_035409 p.Pro83Leu Polymorphism rs12257132 - C10orf12 Q8N655 VAR_033687 p.Asn49Ser Polymorphism rs11188980 - C10orf12 Q8N655 VAR_033688 p.Leu314Pro Polymorphism rs7082522 - C10orf12 Q8N655 VAR_033689 p.Pro401Ala Polymorphism rs34104025 - C10orf12 Q8N655 VAR_033690 p.Ile535Leu Polymorphism rs3829856 - C10orf12 Q8N655 VAR_050846 p.Glu396Gly Polymorphism rs35128733 - C10orf12 Q8N655 VAR_050847 p.Thr556Pro Polymorphism rs7894200 - C10orf12 Q8N655 VAR_059605 p.Asn579Ser Polymorphism rs7894315 - C10orf12 Q8N655 VAR_059606 p.Arg614Gly Polymorphism rs7894545 - C10orf12 Q8N655 VAR_059607 p.Ala716Pro Polymorphism rs7895159 - C10orf25 Q5T742 VAR_047102 p.Ile63Asn Polymorphism rs12269028 - C10orf25 Q5T742 VAR_061603 p.Pro61Leu Polymorphism rs41301609 - C10orf54 Q9H7M9 VAR_028036 p.Asp187Glu Polymorphism rs3747869 - C10orf62 Q5T681 VAR_030216 p.Glu121Asp Polymorphism rs7093840 - C10orf68 Q9H943 VAR_024308 p.Met510Thr Polymorphism rs2504011 - C10orf68 Q9H943 VAR_033692 p.Gly388Ala Polymorphism rs4448627 - C10orf68 Q9H943 VAR_033693 p.Val607Ile Polymorphism rs1418538 - C10orf71 Q711Q0 VAR_031441 p.Asn208Lys Polymorphism rs4838383 - C10orf71 Q711Q0 VAR_031442 p.His666Gln Polymorphism rs10857469 - C10orf71 Q711Q0 VAR_059608 p.Phe698Ser Polymorphism rs7921186 - C10orf71 Q711Q0 VAR_059609 p.Asp741Gly Polymorphism rs11101093 - C10orf71 Q711Q0 VAR_059610 p.Asp883Asn Polymorphism rs12217617 - C10orf71 Q711Q0 VAR_059611 p.Phe958Tyr Polymorphism rs10857470 - C10orf71 Q711Q0 VAR_059612 p.Gly1084Ala Polymorphism rs11101094 - C10orf71 Q711Q0 VAR_059613 p.Val1254Ile Polymorphism rs11101095 - C10orf71 Q711Q0 VAR_059614 p.Gly1337Ser Polymorphism rs10857472 - C10orf71 Q711Q0 VAR_061604 p.Arg320Leu Polymorphism rs56206226 - C10orf71 Q711Q0 VAR_061605 p.Asp461Ala Polymorphism rs45554335 - C10orf71 Q711Q0 VAR_061606 p.Val522Gly Polymorphism rs61453891 - C10orf82 Q8WW14 VAR_050854 p.Thr124Met Polymorphism rs11551267 - C10orf90 Q96M02 VAR_030908 p.Arg134His Polymorphism rs11245008 - C10orf90 Q96M02 VAR_030909 p.Asp262Asn Polymorphism rs11245007 - C10orf90 Q96M02 VAR_050855 p.Met57Ile Polymorphism rs11558415 - C10orf90 Q96M02 VAR_050856 p.Asp531Glu Polymorphism rs12412320 - C10orf91 Q5T1B1 VAR_033694 p.Glu144Gly Polymorphism rs11146376 - C11orf16 Q9NQ32 VAR_056827 p.Pro144Leu Polymorphism rs2568076 - C11orf16 Q9NQ32 VAR_056828 p.Val210Leu Polymorphism rs11042127 - C11orf1 Q9H5F2 VAR_050861 p.Lys49Gln Polymorphism rs11540721 - C11orf1 Q9H5F2 VAR_050862 p.Gln85His Polymorphism rs3180820 - C11orf1 Q9H5F2 VAR_054163 p.Val40Ala Polymorphism rs9280 - C11orf24 Q96F05 VAR_027713 p.Gly97Val Polymorphism rs3802746 - C11orf24 Q96F05 VAR_027714 p.Ala150Thr Polymorphism rs901827 - C11orf35 Q8IXW0 VAR_027732 p.Ala44Thr Polymorphism rs2061586 - C11orf40 Q8WZ69 VAR_029581 p.Phe100Ser Polymorphism rs12795289 - C11orf42 Q8N5U0 VAR_026831 p.Pro242Ser Polymorphism rs10769671 - C11orf52 Q96A22 VAR_029587 p.Thr23Arg Polymorphism rs7124407 - C11orf63 Q6NUN7 VAR_050863 p.His486Arg Polymorphism rs33999612 - C11orf68 Q9H3H3 VAR_060319 p.Gln154Arg Polymorphism rs7947504 - C11orf72 Q8NBR9 VAR_029584 p.Pro22Thr Polymorphism rs12421329 - C11orf73 Q53FT3 VAR_026968 p.Pro47Ala Polymorphism rs11539213 - C11orf84 Q9BUA3 VAR_061607 p.Glu58Gln Polymorphism rs35875163 - C11orf94 C9JXX5 VAR_063154 p.Gln80His Polymorphism rs2271849 - C11orf96 Q7Z7L8 VAR_039242 p.Thr26Ala Polymorphism rs1973717 - C11orf96 Q7Z7L8 VAR_039243 p.Ser47Pro Polymorphism rs12797684 - C11orf96 Q7Z7L8 VAR_039244 p.Arg110Ser Polymorphism rs12796438 - C11orf96 Q7Z7L8 VAR_039245 p.Arg144Cys Polymorphism rs12796667 - C11orf96 Q7Z7L8 VAR_039246 p.Phe151Ser Polymorphism rs12798337 - C11orf96 Q7Z7L8 VAR_039247 p.Pro352Ser Polymorphism rs2434483 - C12orf10 Q9HB07 VAR_059854 p.Thr349Ile Polymorphism rs1534282 - C12orf29 Q8N999 VAR_035197 p.Pro23Leu Polymorphism rs11541954 - C12orf29 Q8N999 VAR_035198 p.Val238Leu Polymorphism rs9262 - C12orf36 Q495D7 VAR_030221 p.Pro38Leu Polymorphism rs11055389 - C12orf36 Q495D7 VAR_030222 p.Ala76Glu Polymorphism rs17821405 - C12orf36 Q495D7 VAR_030223 p.Ile84Val Polymorphism rs7308685 - C12orf40 Q86WS4 VAR_061610 p.Ile13Leu Polymorphism rs58302581 - C12orf42 Q96LP6 VAR_030229 p.Glu11Asp Polymorphism rs10778257 - C12orf42 Q96LP6 VAR_030230 p.Pro182Arg Polymorphism rs7484376 - C12orf43 Q96C57 VAR_030491 p.Gly44Arg Polymorphism rs16950706 - C12orf45 Q8N5I9 VAR_056833 p.Gly5Ser Polymorphism rs12580271 - C12orf45 Q8N5I9 VAR_060438 p.Lys8Gln Polymorphism rs1129593 - C12orf49 Q9H741 VAR_033154 p.Gln55Arg Polymorphism rs10507274 - C12orf50 Q8NA57 VAR_033266 p.Gln306Arg Polymorphism rs10777084 - C12orf50 Q8NA57 VAR_033267 p.Arg322His Polymorphism rs11104703 - C12orf54 Q6X4T0 VAR_030252 p.Pro86Ser Polymorphism rs11458 - C12orf55 Q96N23 VAR_056834 p.Pro11Ser Polymorphism rs3809197 - C12orf55 Q96N23 VAR_056835 p.Thr558Ala Polymorphism rs2160501 - C12orf55 Q96N23 VAR_056836 p.Leu562Phe Polymorphism rs2160502 - C12orf60 Q5U649 VAR_030226 p.Lys51Arg Polymorphism rs17853860 - C12orf60 Q5U649 VAR_030227 p.Lys65Arg Polymorphism rs7304054 - C12orf60 Q5U649 VAR_030228 p.Asn103Lys Polymorphism rs7307438 - C12orf63 Q6ZTY8 VAR_029606 p.Gly387Ser Polymorphism rs11108639 - C12orf63 Q6ZTY8 VAR_029607 p.Leu593Pro Polymorphism rs11108643 - C12orf63 Q6ZTY8 VAR_029608 p.Glu666Lys Polymorphism rs7968231 - C12orf63 Q6ZTY8 VAR_029609 p.Glu710Lys Polymorphism rs10860073 - C12orf63 Q6ZTY8 VAR_029610 p.Val783Ala Polymorphism rs7978894 - C12orf63 Q6ZTY8 VAR_029611 p.Ser790Asn Polymorphism rs1990828 - C12orf63 Q6ZTY8 VAR_029612 p.Pro1107His Polymorphism rs12581184 - C12orf65 Q9H3J6 VAR_037325 p.Ala134Thr Polymorphism rs1045496 - C12orf66 Q96MD2 VAR_039371 p.Met139Ile Polymorphism rs2335390 - C12orf66 Q96MD2 VAR_039372 p.Ala443Ser Polymorphism rs699638 - C12orf68 Q52MB2 VAR_060278 p.Glu140Asp Polymorphism rs10783231 - C12orf69 A2RU48 VAR_043558 p.Cys49Arg Polymorphism rs11609202 - C12orf69 A2RU48 VAR_043559 p.Lys75Arg Polymorphism rs2241221 - C12orf71 A8MTZ7 VAR_056837 p.Ile140Val Polymorphism rs708167 - C12orf73 Q69YU5 VAR_062284 p.Arg45Cys Polymorphism rs2293624 - C12orf76 Q8N812 VAR_039916 p.Ala26Thr Unclassified - A colorectal cancer sample C12orf77 C9JDV5 VAR_062957 p.Leu131Phe Polymorphism rs864161 - C14orf101 Q9NX78 VAR_057823 p.Ala245Ser Polymorphism rs17776256 - C14orf101 Q9NX78 VAR_057824 p.Ser565Asn Polymorphism rs1041316 - C14orf105 Q9NVL8 VAR_024310 p.Tyr235Cys Polymorphism rs1152530 - C14orf119 Q9NWQ9 VAR_033744 p.Leu16Val Polymorphism rs35065609 - C14orf159 Q7Z3D6 VAR_018738 p.Arg10Cys Polymorphism rs10142502 - C14orf159 Q7Z3D6 VAR_018739 p.Asp502Asn Polymorphism rs2295524 - C14orf159 Q7Z3D6 VAR_052599 p.Ser237Asn Polymorphism rs34302825 - C14orf159 Q7Z3D6 VAR_052600 p.Ala372Thr Polymorphism rs12895348 - C14orf159 Q7Z3D6 VAR_052601 p.Asp507Asn Polymorphism rs34523602 - C14orf159 Q7Z3D6 VAR_052602 p.Gly583Asp Polymorphism rs34748911 - C14orf177 Q52M58 VAR_030224 p.Arg3Trp Polymorphism rs17097718 - C14orf177 Q52M58 VAR_030225 p.Val33Ala Polymorphism rs4905757 - C14orf178 Q8N769 VAR_030248 p.His26Tyr Polymorphism rs8015313 - C14orf182 A1A4T8 VAR_060125 p.Pro38Leu Polymorphism rs6572635 - C14orf37 Q86TY3 VAR_027782 p.Thr96Ile Polymorphism rs3829765 - C14orf37 Q86TY3 VAR_027783 p.Ala391Val Polymorphism rs1018504 - C14orf37 Q86TY3 VAR_027784 p.Val528Phe Polymorphism rs12886921 - C14orf37 Q86TY3 VAR_027785 p.Gln613Glu Polymorphism rs2273442 - C14orf93 Q9H972 VAR_050875 p.Ala190Val Polymorphism rs3829409 - C15orf26 Q6P656 VAR_050883 p.Pro284Ser Polymorphism rs2279997 - C15orf27 Q2M3C6 VAR_026880 p.Arg391His Polymorphism rs937732 - C15orf27 Q2M3C6 VAR_026881 p.Pro427Leu Polymorphism rs937733 - C15orf32 Q32M92 VAR_050884 p.Ala17Thr Polymorphism rs1455773 - C15orf37 Q8NBB2 VAR_050885 p.Val62Ala Polymorphism rs2733102 - C15orf39 Q6ZRI6 VAR_026891 p.Ala119Pro Polymorphism rs1873379 - C15orf39 Q6ZRI6 VAR_026892 p.Gly491Asp Polymorphism rs11072532 - C15orf39 Q6ZRI6 VAR_026893 p.Ser536Ala Polymorphism rs28509789 - C15orf39 Q6ZRI6 VAR_026894 p.Gly945Asp Polymorphism rs3743211 - C15orf41 Q9Y2V0 VAR_059622 p.Leu73Val Polymorphism rs3784678 - C15orf43 Q8NHR7 VAR_029614 p.Pro31Arg Polymorphism rs11638723 - C15orf52 Q6ZUT6 VAR_035620 p.Gly189Glu Unclassified - A colorectal cancer sample C15orf53 Q8NAA6 VAR_044023 p.Leu3Val Polymorphism rs7165988 - C15orf53 Q8NAA6 VAR_044024 p.Ala39Val Polymorphism rs11857596 - C15orf54 Q8N8G6 VAR_044189 p.Thr59Met Polymorphism rs11853050 - C15orf54 Q8N8G6 VAR_044190 p.Glu77Lys Polymorphism rs16968547 - C15orf56 Q8N910 VAR_061614 p.Pro119Ser Polymorphism rs55863440 - C15orf56 Q8N910 VAR_061615 p.Pro151Arg Polymorphism rs55974545 - C15orf56 Q8N910 VAR_061616 p.Ile160Thr Polymorphism rs55799438 - C15orf57 Q9BV29 VAR_034743 p.Lys2Ile Polymorphism rs10152546 - C15orf60 Q7Z4M0 VAR_050893 p.Val148Met Polymorphism rs12102004 - C16orf13 Q96S19 VAR_064368 p.Leu136Pro Polymorphism - - C16orf3 O95177 VAR_056843 p.Val72Ile Polymorphism rs3785183 - C16orf46 Q6P387 VAR_030893 p.Thr77Ser Polymorphism rs17855893 - C16orf46 Q6P387 VAR_030894 p.Ile288Thr Polymorphism rs7198494 - C16orf46 Q6P387 VAR_030895 p.Tyr335His Polymorphism rs10459872 - C16orf46 Q6P387 VAR_030896 p.Lys357Glu Polymorphism rs9930623 - C16orf46 Q6P387 VAR_030897 p.Pro388Ser Polymorphism rs12929250 - C16orf55 Q96N06 VAR_050897 p.Ser45Leu Polymorphism rs13329897 - C16orf58 Q96GQ5 VAR_031439 p.Tyr185Cys Polymorphism rs17855405 - C16orf58 Q96GQ5 VAR_036485 p.Gly43Glu Unclassified - A breast cancer sample C16orf59 Q7L2K0 VAR_032115 p.Arg346Lys Polymorphism rs34948268 - C16orf62 Q7Z3J2 VAR_037230 p.Tyr32Cys Polymorphism rs17854969 - C16orf62 Q7Z3J2 VAR_037231 p.Asn186Ile Polymorphism rs7206637 - C16orf62 Q7Z3J2 VAR_037232 p.Ala506Val Polymorphism rs17854970 - C16orf71 Q8IYS4 VAR_033157 p.Glu88Asp Polymorphism rs17137215 - C16orf71 Q8IYS4 VAR_033158 p.Pro143Ser Polymorphism rs17137230 - C16orf71 Q8IYS4 VAR_033159 p.Ser190Leu Polymorphism rs35599524 - C16orf71 Q8IYS4 VAR_033160 p.Glu232Lys Polymorphism rs35002791 - C16orf71 Q8IYS4 VAR_033161 p.Ala241Val Polymorphism rs7202010 - C16orf71 Q8IYS4 VAR_033162 p.Arg302Cys Polymorphism rs2075469 - C16orf71 Q8IYS4 VAR_033163 p.Gln354Arg Polymorphism rs737700 - C16orf71 Q8IYS4 VAR_061618 p.Pro465Leu Polymorphism rs17853375 - C16orf72 Q14CZ0 VAR_034657 p.Asn221Ser Polymorphism rs34869458 - C16orf78 Q8WTQ4 VAR_034632 p.Arg152Gln Polymorphism rs16947350 - C16orf85 Q6ZSH3 VAR_044191 p.Glu145Asp Polymorphism rs2879897 - C16orf88 Q1ED39 VAR_039387 p.Ala266Val Polymorphism rs2074036 - C16orf88 Q1ED39 VAR_061716 p.Arg28Gln Polymorphism rs11640454 - C16orf88 Q1ED39 VAR_061717 p.Val276Ala Polymorphism rs28424569 - C16orf89 Q6UX73 VAR_040004 p.Leu296Ser Polymorphism rs1127920 - C16orf89 Q6UX73 VAR_040005 p.Tyr363His Polymorphism rs11642955 - C16orf89 Q6UX73 VAR_057992 p.Gly215Ala Polymorphism rs17853191 - C17orf102 A2RUQ5 VAR_046187 p.Gly98Arg Polymorphism rs58529418 - C17orf102 A2RUQ5 VAR_046188 p.Arg155Lys Polymorphism rs887230 - C17orf104 A2RUB1 VAR_039917 p.Met311Leu Polymorphism rs8073475 - C17orf104 A2RUB1 VAR_039918 p.Asn320Thr Polymorphism rs9907151 - C17orf47 Q8NEP4 VAR_032122 p.Pro88Thr Polymorphism rs8071623 - C17orf47 Q8NEP4 VAR_032123 p.Gly461Ser Polymorphism rs17822735 - C17orf47 Q8NEP4 VAR_032124 p.Cys546Gly Polymorphism rs16943091 - C17orf50 Q8WW18 VAR_050899 p.Asp22Glu Polymorphism rs4795087 - C17orf53 Q8N3J3 VAR_032393 p.Thr126Pro Polymorphism rs227584 - C17orf58 Q2M2W7 VAR_030902 p.Ile92Val Polymorphism rs9891146 - C17orf66 A2RTY3 VAR_032281 p.Ser480Phe Polymorphism rs2306630 - C17orf66 A2RTY3 VAR_035685 p.Ile330Met Unclassified - A breast cancer sample C17orf74 Q0P670 VAR_032145 p.Ser108Ala Polymorphism rs13290 - C17orf74 Q0P670 VAR_032146 p.Gln376Arg Polymorphism rs3892554 - C17orf76- Q8N1F1 VAR_032120 p.Tyr36Cys Polymorphism rs35517418 - C17orf76- Q8N1F1 VAR_032121 p.Ser78Thr Polymorphism rs35752829 - C17orf77 Q96MU5 VAR_029628 p.Arg47Ser Polymorphism rs493430 - C17orf78 Q8N4C9 VAR_034877 p.Thr152Ser Polymorphism rs1714987 - C17orf80 Q9BSJ5 VAR_031779 p.Gly226Ser Polymorphism rs9902726 - C17orf80 Q9BSJ5 VAR_031780 p.Lys322Gln Polymorphism rs34784472 - C17orf80 Q9BSJ5 VAR_031781 p.Phe356Leu Polymorphism rs745143 - C17orf80 Q9BSJ5 VAR_031782 p.His395Asn Polymorphism rs904384 - C17orf80 Q9BSJ5 VAR_031783 p.Cys396Arg Polymorphism rs904383 - C17orf80 Q9BSJ5 VAR_031784 p.Gln420His Polymorphism rs745142 - C17orf80 Q9BSJ5 VAR_031785 p.Ala522Thr Polymorphism rs1566286 - C17orf82 Q86X59 VAR_031769 p.Leu186Pro Polymorphism rs9907379 - C17orf97 Q6ZQX7 VAR_044008 p.Glu56Lys Polymorphism rs4581766 - C17orf97 Q6ZQX7 VAR_044009 p.Asp220Glu Polymorphism rs35229416 - C17orf98 A8MV24 VAR_044022 p.Pro61Leu Polymorphism rs7210156 - C18orf21 Q32NC0 VAR_030903 p.Thr132Ala Polymorphism rs2276314 - C18orf32 Q8TCD1 VAR_039374 p.Pro37His Polymorphism rs11537626 - C18orf56 Q8TAI1 VAR_032162 p.Arg62Gly Polymorphism rs2853533 - C19orf10 Q969H8 VAR_060183 p.Gly12Arg Polymorphism rs2270090 - C19orf18 Q8NEA5 VAR_050909 p.His208Tyr Polymorphism rs8110831 - C19orf21 Q8IVT2 VAR_033754 p.Ser156Gly Polymorphism rs3746173 - C19orf21 Q8IVT2 VAR_033755 p.Lys232Arg Polymorphism rs3746175 - C19orf21 Q8IVT2 VAR_033756 p.Glu653Gly Polymorphism rs8107847 - C19orf21 Q8IVT2 VAR_050910 p.Ser269Asn Polymorphism rs35384259 - C19orf21 Q8IVT2 VAR_061629 p.Ala99Thr Polymorphism rs45477999 - C19orf45 Q8NA69 VAR_034664 p.Asp256Gly Polymorphism rs484870 - C19orf45 Q8NA69 VAR_034665 p.Tyr396Asn Polymorphism rs3826736 - C19orf45 Q8NA69 VAR_034666 p.Tyr434Asn Polymorphism rs475923 - C19orf45 Q8NA69 VAR_034667 p.Pro497Ser Polymorphism rs1133378 - C19orf45 Q8NA69 VAR_034668 p.Leu500Pro Polymorphism rs608144 - C19orf48 Q6RUI8 VAR_029852 p.Val7Ile Polymorphism rs7251816 - C19orf48 Q6RUI8 VAR_029853 p.Arg84Cys Polymorphism rs4802741 - C19orf48 Q6RUI8 VAR_029854 p.Gly104Glu Polymorphism rs4801853 - C19orf53 Q9UNZ5 VAR_053783 p.Lys39Arg Polymorphism rs10104 - C19orf55 Q2NL68 VAR_056845 p.Ser302Arg Polymorphism rs231219 - C19orf55 Q2NL68 VAR_061631 p.Lys365Asn Polymorphism rs231217 - C19orf57 Q0VDD7 VAR_033356 p.Gly267Arg Polymorphism rs2305775 - C19orf57 Q0VDD7 VAR_033357 p.Gln500Arg Polymorphism rs3803892 - C19orf71 A6NCJ1 VAR_061253 p.Pro83Leu Polymorphism rs12608919 - C19orf71 A6NCJ1 VAR_061254 p.Ala137Val Polymorphism rs6510758 - C19orf73 Q9NVV2 VAR_046164 p.Ser106Gly Polymorphism rs2232003 - C19orf80 Q6UXH0 VAR_039046 p.Arg59Trp Polymorphism rs2278426 - C19orf80 Q6UXH0 VAR_039047 p.Arg147Gln Polymorphism rs34056604 - C1D Q13901 VAR_053990 p.Ser127Pro Polymorphism rs10444 - C1GALT1C1 Q96EU7 VAR_031910 p.Asp131Glu Polymorphism rs17261572 - C1GALT1C1 Q96EU7 VAR_031911 p.Glu152Lys Disease - Tn syndrome (TNSYN) [MIM:300622] C1orf101 Q5SY80 VAR_027661 p.Thr66Lys Polymorphism rs11586356 - C1orf101 Q5SY80 VAR_035494 p.Thr653Ile Unclassified - A breast cancer sample C1orf101 Q5SY80 VAR_061566 p.Thr56Ser Polymorphism rs58602830 - C1orf105 O95561 VAR_027710 p.Met97Val Polymorphism rs16844498 - C1orf105 O95561 VAR_027711 p.Ser137Asn Polymorphism rs1129942 - C1orf106 Q3KP66 VAR_030835 p.Arg538Cys Polymorphism rs296520 - C1orf111 Q5T0L3 VAR_030904 p.Ala69Val Polymorphism rs164181 - C1orf111 Q5T0L3 VAR_030905 p.Arg217His Polymorphism rs17853130 - C1orf112 Q9NSG2 VAR_030906 p.Ala481Ser Polymorphism rs2272920 - C1orf114 Q5TID7 VAR_030907 p.Phe172Ser Polymorphism rs3820059 - C1orf114 Q5TID7 VAR_056764 p.Phe238Ile Polymorphism rs35107735 - C1orf114 Q5TID7 VAR_056765 p.Ser323Cys Polymorphism rs35287513 - C1orf127 Q8N9H9 VAR_031750 p.Ala530Val Polymorphism rs1281018 - C1orf127 Q8N9H9 VAR_056766 p.Arg256Gln Polymorphism rs1281012 - C1orf127 Q8N9H9 VAR_056767 p.Val366Asp Polymorphism rs1281016 - C1orf131 Q8NDD1 VAR_031906 p.Leu28Val Polymorphism rs2274067 - C1orf141 Q5JVX7 VAR_033186 p.Glu85Gly Polymorphism rs2273682 - C1orf141 Q5JVX7 VAR_033187 p.Val189Ile Polymorphism rs11208997 - C1orf147 Q96MC9 VAR_027074 p.Gly213Ala Polymorphism rs2336940 - C1orf147 Q96MC9 VAR_027075 p.Pro233Ser Polymorphism rs11118256 - C1orf147 Q96MC9 VAR_027076 p.Thr259Met Polymorphism rs17024805 - C1orf158 Q8N1D5 VAR_027091 p.Phe191Leu Polymorphism rs1132185 - C1orf162 Q8NEQ5 VAR_035106 p.Gly3Ser Polymorphism rs6703267 - C1orf167 Q5SNV9 VAR_035266 p.Pro453Ser Polymorphism rs6668699 - C1orf167 Q5SNV9 VAR_035267 p.Arg544Gln Polymorphism rs4845880 - C1orf167 Q5SNV9 VAR_035268 p.Arg602Trp Polymorphism rs6667720 - C1orf167 Q5SNV9 VAR_035269 p.Trp782Arg Polymorphism rs6699881 - C1orf167 Q5SNV9 VAR_035270 p.Arg800Cys Polymorphism rs7538516 - C1orf167 Q5SNV9 VAR_035271 p.Ser848Ile Polymorphism rs6697244 - C1orf167 Q5SNV9 VAR_035272 p.Arg944His Polymorphism rs4846043 - C1orf167 Q5SNV9 VAR_035273 p.Trp955Arg Polymorphism rs4846044 - C1orf167 Q5SNV9 VAR_035274 p.Arg1215His Polymorphism rs3737967 - C1orf167 Q5SNV9 VAR_035275 p.Cys1295Ser Polymorphism rs1537514 - C1orf167 Q5SNV9 VAR_035276 p.Arg1451Gly Polymorphism rs868014 - C1orf168 Q5VWT5 VAR_035041 p.Ile125Met Polymorphism rs17114336 - C1orf170 Q5SV97 VAR_034837 p.Trp20Arg Polymorphism rs6660139 - C1orf172 Q8NAX2 VAR_032561 p.Gln100Arg Polymorphism rs17360994 - C1orf172 Q8NAX2 VAR_032562 p.Arg107Trp Polymorphism rs3010109 - C1orf172 Q8NAX2 VAR_032563 p.Lys189Arg Polymorphism rs34291506 - C1orf172 Q8NAX2 VAR_035616 p.Arg312His Unclassified - A colorectal cancer sample C1orf173 Q5RHP9 VAR_035131 p.Pro264Ala Polymorphism rs11210490 - C1orf173 Q5RHP9 VAR_035132 p.Arg555His Polymorphism rs696698 - C1orf173 Q5RHP9 VAR_035133 p.Ile636Val Polymorphism rs17095653 - C1orf173 Q5RHP9 VAR_035134 p.His691Arg Polymorphism rs2305549 - C1orf173 Q5RHP9 VAR_035135 p.Leu1056Val Polymorphism rs11580409 - C1orf173 Q5RHP9 VAR_035136 p.Val1528Met Polymorphism rs9326116 - C1orf174 Q8IYL3 VAR_033152 p.Thr53Arg Polymorphism rs4274008 - C1orf174 Q8IYL3 VAR_033153 p.Ala101Ser Polymorphism rs10909820 - C1orf174 Q8IYL3 VAR_057829 p.Pro165Ala Polymorphism rs12036962 - C1orf177 Q3ZCV2 VAR_034645 p.Gly126Cys Polymorphism rs9782980 - C1orf177 Q3ZCV2 VAR_054410 p.Tyr205His Polymorphism rs600499 - C1orf180 Q8NAE3 VAR_029856 p.Phe96Val Polymorphism rs4551616 - C1orf198 Q9H425 VAR_050707 p.Ala274Ser Polymorphism rs34864456 - C1orf198 Q9H425 VAR_050708 p.Lys306Arg Polymorphism rs35115679 - C1orf210 Q8IVY1 VAR_033655 p.Ser12Leu Polymorphism rs35465732 - C1orf220 Q5T0J3 VAR_056768 p.Pro3Leu Polymorphism rs12568310 - C1orf227 Q537H7 VAR_060195 p.Ile8Thr Polymorphism rs10864004 - C1orf50 Q9BV19 VAR_054409 p.Thr178Met Polymorphism rs11548275 - C1orf63 Q9BUV0 VAR_034655 p.Tyr147His Polymorphism rs34619962 - C1orf63 Q9BUV0 VAR_034656 p.Glu239Gly Polymorphism rs1043879 - C1orf64 Q8NEQ6 VAR_033654 p.Leu112Phe Polymorphism rs34950166 - C1orf64 Q8NEQ6 VAR_035491 p.Gly52Trp Unclassified - A breast cancer sample C1orf64 Q8NEQ6 VAR_035492 p.Gly100Trp Unclassified - A breast cancer sample C1orf65 Q8N715 VAR_027066 p.Val195Ala Polymorphism rs6689850 - C1orf65 Q8N715 VAR_027067 p.Gly329Asp Polymorphism rs10907376 - C1orf65 Q8N715 VAR_027068 p.Arg331Trp Polymorphism rs6682552 - C1orf65 Q8N715 VAR_027069 p.Arg380Leu Polymorphism rs17852896 - C1orf74 Q96LT6 VAR_050701 p.Leu146Phe Polymorphism rs7550857 - C1orf85 Q8WWB7 VAR_031742 p.Val94Ile Polymorphism rs1570805 - C1orf85 Q8WWB7 VAR_031743 p.Pro203Ser Polymorphism rs10908496 - C1orf85 Q8WWB7 VAR_031744 p.Ile223Val Polymorphism rs10908495 - C1orf87 Q8N0U7 VAR_031745 p.Leu185Val Polymorphism rs12737449 - C1orf87 Q8N0U7 VAR_031746 p.Asn301Asp Polymorphism rs17120025 - C1orf87 Q8N0U7 VAR_031747 p.Lys403Glu Polymorphism rs626251 - C1orf87 Q8N0U7 VAR_031748 p.Ala406Pro Polymorphism rs35260089 - C1orf87 Q8N0U7 VAR_035493 p.Gln151Glu Unclassified - A breast cancer sample C1orf94 Q6P1W5 VAR_031051 p.Gln235Glu Polymorphism rs1382602 - C1orf94 Q6P1W5 VAR_031052 p.Asp302Glu Polymorphism rs1414474 - C1orf94 Q6P1W5 VAR_050702 p.Tyr438His Polymorphism rs17556981 - C1QA P02745 VAR_021090 p.Glu23Lys Polymorphism rs17887074 - C1QB P02746 VAR_008541 p.Gly42Asp Disease - Complement component C1q deficiency (C1QD) [MIM:613652] C1QB P02746 VAR_035551 p.Ala123Thr Unclassified - A breast cancer sample C1QC P02747 VAR_008542 p.Gly34Arg Disease - Complement component C1q deficiency (C1QD) [MIM:613652] C1QTNF5 Q9BXJ0 VAR_032628 p.Gln44Arg Polymorphism rs11538245 - C1QTNF5 Q9BXJ0 VAR_032629 p.Ser163Arg Disease - Late-onset retinal degeneration (LORD) [MIM:605670] C1QTNF6 Q9BXI9 VAR_046624 p.Gly2Val Polymorphism rs229527 - C1QTNF6 Q9BXI9 VAR_046625 p.Pro23Arg Polymorphism rs229526 - C1QTNF6 Q9BXI9 VAR_046626 p.Gly36Asp Polymorphism rs7290488 - C1QTNF6 Q9BXI9 VAR_046627 p.Pro119Leu Polymorphism rs17812699 - C1QTNF6 Q9BXI9 VAR_046628 p.Arg207His Polymorphism rs17812681 - C1QTNF9 P0C862 VAR_032840 p.Met219Val Polymorphism rs3751357 - C1QTNF9 P0C862 VAR_032841 p.Val301Met Polymorphism rs4589405 - C1QTNF9 P0C862 VAR_059148 p.Leu6Phe Polymorphism rs1974332 - C1RL Q9NZP8 VAR_038852 p.Ile285Val Polymorphism rs3742089 - C1R P00736 VAR_016103 p.Ser152Leu Polymorphism rs1801046 - C1R P00736 VAR_018667 p.Tyr131His Polymorphism - - C1R P00736 VAR_018668 p.His163Tyr Polymorphism - - C1R P00736 VAR_018669 p.Glu184Lys Polymorphism rs1126605 - C1R P00736 VAR_018670 p.Gly261Arg Polymorphism rs3813728 - C1R P00736 VAR_047933 p.Thr186Arg Polymorphism rs4519167 - C1S P09871 VAR_014565 p.Arg383His Polymorphism rs20573 - C1S P09871 VAR_033643 p.Arg119His Polymorphism rs12146727 - C1S P09871 VAR_033644 p.Val327Leu Polymorphism rs2239170 - C20orf111 Q9NX31 VAR_024333 p.Val74Gly Polymorphism rs9346 - C20orf118 A0PJX2 VAR_050439 p.Gly102Arg Polymorphism rs3748460 - C20orf144 Q9BQM9 VAR_050921 p.Gln62Arg Polymorphism rs7260921 - C20orf166 Q96NR2 VAR_036898 p.Ile121Val Polymorphism rs3934574 - C20orf166 Q9H1L0 VAR_019655 p.Val27Ala Polymorphism rs6062251 - C20orf173 Q96LM9 VAR_024334 p.Lys141Glu Polymorphism rs7261862 - C20orf194 Q5TEA3 VAR_050923 p.Thr481Pro Polymorphism rs16988463 - C20orf194 Q5TEA3 VAR_050924 p.Arg577Gly Polymorphism rs2422864 - C20orf194 Q5TEA3 VAR_059637 p.Thr86Met Polymorphism rs8124486 - C20orf196 Q8IYI0 VAR_032144 p.Ala23Val Polymorphism rs237422 - C20orf201 Q8TD35 VAR_042651 p.Gly9Trp Polymorphism rs4431000 - C20orf26 Q8NHU2 VAR_027981 p.Pro74Arg Polymorphism rs17852602 - C20orf26 Q8NHU2 VAR_027982 p.His254Arg Polymorphism rs6075614 - C20orf26 Q8NHU2 VAR_027983 p.Val369Ile Polymorphism rs6081901 - C20orf26 Q8NHU2 VAR_027984 p.Pro371Leu Polymorphism rs6075628 - C20orf26 Q8NHU2 VAR_027985 p.Asp505Glu Polymorphism rs7344530 - C20orf26 Q8NHU2 VAR_027986 p.Pro660Leu Polymorphism rs6081930 - C20orf26 Q8NHU2 VAR_027987 p.Val671Ile Polymorphism rs6046740 - C20orf85 Q9H1P6 VAR_033759 p.Arg26His Polymorphism rs16984945 - C20orf85 Q9H1P6 VAR_033760 p.Ile99Val Polymorphism rs17440813 - C20orf85 Q9H1P6 VAR_061632 p.Arg34Gln Polymorphism rs45576936 - C20orf96 Q9NUD7 VAR_056847 p.Ile305Phe Polymorphism rs3827147 - C21orf128 Q8N2C9 VAR_017941 p.Val98Phe Polymorphism rs220111 - C21orf2 O43822 VAR_016155 p.Thr150Ile Polymorphism rs2277809 - C21orf2 O43822 VAR_050927 p.Gly153Ser Polymorphism rs9306099 - C21orf33 P30042 VAR_020441 p.Leu248Val Polymorphism rs2838497 - C21orf33 P30042 VAR_027920 p.Val6Ala Polymorphism rs968714 - C21orf33 P30042 VAR_027921 p.Val148Met Polymorphism rs17264865 - C22orf23 Q9BZE7 VAR_057346 p.Met136Leu Polymorphism rs35562630 - C22orf24 Q9Y442 VAR_050934 p.His11Leu Polymorphism rs1984388 - C22orf26 Q9NV39 VAR_061635 p.Pro28Leu Polymorphism rs12159707 - C22orf26 Q9NV39 VAR_061636 p.Gln137Arg Polymorphism rs59929908 - C22orf28 Q9Y3I0 VAR_028853 p.Leu343Phe Polymorphism rs17849275 - C22orf28 Q9Y3I0 VAR_052485 p.Val153Ala Polymorphism rs11545747 - C22orf31 O95567 VAR_028808 p.Cys46Arg Polymorphism rs9625679 - C22orf31 O95567 VAR_028809 p.Thr210Arg Polymorphism rs714136 - C22orf32 Q9H4I9 VAR_034628 p.Arg46Gly Polymorphism rs17852210 - C22orf42 Q6IC83 VAR_045606 p.Leu73Pro Polymorphism rs5998267 - C22orf42 Q6IC83 VAR_045607 p.Glu217Lys Polymorphism rs41344647 - C22orf43 Q6PGQ1 VAR_039014 p.Ile4Thr Polymorphism rs3827318 - C2CD2L O14523 VAR_028797 p.Arg413Trp Polymorphism rs2239896 - C2CD2 Q9Y426 VAR_050928 p.Val211Ala Polymorphism rs2839421 - C2CD2 Q9Y426 VAR_050929 p.Thr618Ala Polymorphism rs9981024 - C2CD3 Q4AC94 VAR_037181 p.Pro773Arg Polymorphism rs34050666 - C2CD3 Q4AC94 VAR_037182 p.Arg997Gln Polymorphism rs11235995 - C2CD3 Q4AC94 VAR_037183 p.Arg1219Gln Polymorphism rs826058 - C2CD3 Q4AC94 VAR_037184 p.Tyr1297Cys Polymorphism rs1095423 - C2CD3 Q4AC94 VAR_037185 p.Ser1663Asn Polymorphism rs12419308 - C2CD3 Q4AC94 VAR_037186 p.Gly1831Trp Polymorphism rs1632245 - C2CD3 Q4AC94 VAR_037187 p.Arg1832Gly Polymorphism rs1632242 - C2CD4B A6NLJ0 VAR_039696 p.Phe276Val Polymorphism rs8040712 - C2CD4B A6NLJ0 VAR_039697 p.Asp346Glu Polymorphism rs1055090 - C2orf16 Q68DN1 VAR_031313 p.Arg357Gly Polymorphism rs17006143 - C2orf16 Q68DN1 VAR_031314 p.Asp505Val Polymorphism rs13410886 - C2orf16 Q68DN1 VAR_031315 p.Thr655Ser Polymorphism rs1919125 - C2orf16 Q68DN1 VAR_031316 p.Ala660Glu Polymorphism rs1919126 - C2orf16 Q68DN1 VAR_031317 p.Val685Ala Polymorphism rs1919127 - C2orf16 Q68DN1 VAR_031318 p.Ile767Thr Polymorphism rs13416968 - C2orf16 Q68DN1 VAR_031319 p.Ile774Val Polymorphism rs1919128 - C2orf16 Q68DN1 VAR_031320 p.Ser1500Phe Polymorphism rs12618071 - C2orf16 Q68DN1 VAR_031321 p.His1559Tyr Polymorphism rs13392197 - C2orf16 Q68DN1 VAR_031322 p.Asn1613Ser Polymorphism rs13031957 - C2orf16 Q68DN1 VAR_031323 p.Ser1665Pro Polymorphism rs28381983 - C2orf27A Q580R0 VAR_033657 p.Pro203Leu Polymorphism rs1056219 - C2orf40 Q9H1Z8 VAR_050962 p.Ala52Thr Polymorphism rs10187689 - C2orf42 Q9NWW7 VAR_050712 p.Gln314Pro Polymorphism rs3213941 - C2orf44 Q9H6R7 VAR_034834 p.Thr102Met Polymorphism rs3731620 - C2orf44 Q9H6R7 VAR_035876 p.Pro454Ser Unclassified - A breast cancer sample C2orf47 Q8WWC4 VAR_034911 p.Leu290Ile Polymorphism rs2118548 - C2orf48 Q96LS8 VAR_029619 p.Pro90Leu Polymorphism rs13406078 - C2orf48 Q96LS8 VAR_050713 p.Trp119Ser Polymorphism rs7423163 - C2orf49 Q9BVC5 VAR_029759 p.Gly185Asp Polymorphism rs28930676 - C2orf53 Q53SZ7 VAR_037469 p.Arg194Gly Polymorphism rs17855664 - C2orf53 Q53SZ7 VAR_037470 p.Arg222Cys Polymorphism rs3739097 - C2orf54 Q08AI8 VAR_032419 p.Leu309Pro Polymorphism rs6707568 - C2orf54 Q08AI8 VAR_050714 p.Ala170Thr Polymorphism rs4359646 - C2orf57 Q53QW1 VAR_036894 p.Val11Leu Polymorphism rs16828251 - C2orf57 Q53QW1 VAR_036895 p.Gln79Arg Polymorphism rs16828254 - C2orf57 Q53QW1 VAR_036896 p.Glu168Lys Polymorphism rs16828257 - C2orf57 Q53QW1 VAR_036897 p.Ser261Pro Polymorphism rs10933378 - C2orf61 Q8N801 VAR_050715 p.Leu17Met Polymorphism rs815804 - C2orf61 Q8N801 VAR_050716 p.Gln31Arg Polymorphism rs17036300 - C2orf70 A6NJV1 VAR_042998 p.Gln66His Polymorphism rs13002673 - C2orf70 A6NJV1 VAR_054056 p.Gln177Leu Polymorphism rs2272466 - C2orf71 A6NGG8 VAR_042646 p.Ser13Cys Polymorphism rs10084168 - C2orf71 A6NGG8 VAR_042647 p.Lys421Arg Polymorphism rs17007544 - C2orf71 A6NGG8 VAR_042648 p.Thr580Met Polymorphism rs10166913 - C2orf71 A6NGG8 VAR_042649 p.Leu792Val Polymorphism rs17744093 - C2orf71 A6NGG8 VAR_042650 p.Pro1254Leu Polymorphism rs1975713 - C2orf71 A6NGG8 VAR_063395 p.Ile201Phe Disease - Retinitis pigmentosa type 54 (RP54) [MIM:613428] C2orf71 A6NGG8 VAR_063396 p.Pro867Leu Polymorphism - - C2orf71 A6NGG8 VAR_065267 p.Glu227Lys Polymorphism - - C2orf71 A6NGG8 VAR_065268 p.Val247Ala Polymorphism - - C2orf71 A6NGG8 VAR_065269 p.Ala252Asp Polymorphism - - C2orf71 A6NGG8 VAR_065270 p.Arg258Ile Polymorphism - - C2orf71 A6NGG8 VAR_065271 p.Ser312Asn Polymorphism - - C2orf71 A6NGG8 VAR_065272 p.Arg320Cys Polymorphism - - C2orf71 A6NGG8 VAR_065273 p.Asp372Asn Disease - Retinitis pigmentosa type 54 (RP54) [MIM:613428] C2orf71 A6NGG8 VAR_065274 p.Glu378Lys Polymorphism - - C2orf71 A6NGG8 VAR_065275 p.Leu612Pro Disease - Retinitis pigmentosa type 54 (RP54) [MIM:613428] C2orf71 A6NGG8 VAR_065276 p.Val615Asp Disease - Retinitis pigmentosa type 54 (RP54) [MIM:613428] C2orf71 A6NGG8 VAR_065277 p.Ala628Thr Polymorphism - - C2orf71 A6NGG8 VAR_065278 p.Ala648Pro Polymorphism - - C2orf71 A6NGG8 VAR_065279 p.Cys688Tyr Polymorphism - - C2orf71 A6NGG8 VAR_065280 p.Pro954Ser Polymorphism - - C2orf71 A6NGG8 VAR_065281 p.Arg955Gln Polymorphism - - C2orf71 A6NGG8 VAR_065282 p.Ala959Thr Polymorphism - - C2orf71 A6NGG8 VAR_065283 p.Gln1020Arg Polymorphism - - C2orf71 A6NGG8 VAR_065285 p.Ala1160Thr Polymorphism - - C2orf71 A6NGG8 VAR_065286 p.Arg1177Gln Polymorphism - - C2orf71 A6NGG8 VAR_065288 p.Gly1247Ser Polymorphism - - C2orf73 Q8N5S3 VAR_042973 p.Pro254Leu Polymorphism rs2280718 - C2orf73 Q8N5S3 VAR_042974 p.Arg275Thr Polymorphism rs13184 - C2orf73 Q8N5S3 VAR_061571 p.His29Asn Polymorphism rs55714450 - C2orf76 Q3KRA6 VAR_039931 p.Ile46Val Polymorphism rs6542522 - C2orf76 Q3KRA6 VAR_039932 p.Lys116Arg Polymorphism rs1052500 - C2orf80 Q0P641 VAR_050717 p.Arg82His Polymorphism rs11898181 - C2orf80 Q0P641 VAR_050718 p.Cys130Arg Polymorphism rs6435421 - C2orf80 Q0P641 VAR_050719 p.Ser152Gly Polymorphism rs10804166 - C2orf83 Q53S99 VAR_039201 p.Glu104Gln Polymorphism rs2138402 - C2orf83 Q53S99 VAR_061865 p.Ser45Leu Polymorphism rs28739019 - C2orf88 Q9BSF0 VAR_046151 p.Thr56Ile Polymorphism rs6753459 - C2 P06681 VAR_008544 p.Cys131Tyr Disease - Complement component 2 deficiency (C2D) [MIM:217000] C2 P06681 VAR_008545 p.Ser209Phe Disease rs28934590 Complement component 2 deficiency (C2D) [MIM:217000] C2 P06681 VAR_008546 p.Gly464Arg Disease - Complement component 2 deficiency (C2D) [MIM:217000] C2 P06681 VAR_011772 p.Phe533Leu Polymorphism rs1042664 - C2 P06681 VAR_019158 p.Glu318Asp Polymorphism rs9332739 - C2 P06681 VAR_019159 p.Arg734Cys Polymorphism rs4151648 - C3AR1 Q16581 VAR_019164 p.Val136Ala Polymorphism rs11567806 - C3orf17 Q6NW34 VAR_025418 p.Glu101Lys Polymorphism rs2291465 - C3orf17 Q6NW34 VAR_025419 p.Pro352Ser Polymorphism rs2306858 - C3orf17 Q6NW34 VAR_025420 p.Phe357Ile Polymorphism rs2306857 - C3orf17 Q6NW34 VAR_025421 p.Thr476Ala Polymorphism rs3732813 - C3orf17 Q6NW34 VAR_025422 p.Ser490Pro Polymorphism rs7628368 - C3orf18 Q9UK00 VAR_025720 p.Ala8Asp Polymorphism rs386598 - C3orf18 Q9UK00 VAR_025721 p.Ala162Val Polymorphism rs1034405 - C3orf20 Q8ND61 VAR_025722 p.Ala176Thr Polymorphism rs17040196 - C3orf20 Q8ND61 VAR_027886 p.Gly42Asp Polymorphism rs17040154 - C3orf20 Q8ND61 VAR_027887 p.Asp65Asn Polymorphism rs9821143 - C3orf20 Q8ND61 VAR_027888 p.Ser230Tyr Polymorphism rs17852774 - C3orf20 Q8ND61 VAR_027889 p.Ala298Thr Polymorphism rs17040196 - C3orf20 Q8ND61 VAR_027890 p.Ile407Val Polymorphism rs6765537 - C3orf20 Q8ND61 VAR_027891 p.Leu422Val Polymorphism rs6790129 - C3orf20 Q8ND61 VAR_056770 p.Gln205Arg Polymorphism rs34230332 - C3orf20 Q8ND61 VAR_056771 p.Ala689Val Polymorphism rs34045813 - C3orf30 Q96M34 VAR_028841 p.Asn45Thr Polymorphism rs4687838 - C3orf30 Q96M34 VAR_028842 p.Asp99Gly Polymorphism rs11550908 - C3orf30 Q96M34 VAR_028843 p.Gln193His Polymorphism rs9859242 - C3orf30 Q96M34 VAR_028844 p.Gly312Ser Polymorphism rs4077930 - C3orf30 Q96M34 VAR_028845 p.Asp473Glu Polymorphism rs9289122 - C3orf30 Q96M34 VAR_061574 p.Ser447Leu Polymorphism rs56317615 - C3orf33 Q6P1S2 VAR_028846 p.Ala47Thr Polymorphism rs9853408 - C3orf33 Q6P1S2 VAR_028847 p.Ser160Asn Polymorphism rs358733 - C3orf43 Q147U7 VAR_050721 p.His20Tyr Polymorphism rs9869292 - C3orf43 Q147U7 VAR_050722 p.Arg64Trp Polymorphism rs11926701 - C3orf55 A1A4F0 VAR_050723 p.Val4Leu Polymorphism rs7616293 - C3orf62 Q6ZUJ4 VAR_050724 p.Glu110Lys Polymorphism rs13077498 - C3orf67 Q6ZVT6 VAR_056772 p.Ser158Arg Polymorphism rs13324082 - C3orf67 Q6ZVT6 VAR_056773 p.Asp304Glu Polymorphism rs35778488 - C3orf67 Q6ZVT6 VAR_061575 p.Val387Met Polymorphism rs34631714 - C3orf67 Q6ZVT6 VAR_061576 p.Ser404Asn Polymorphism rs34322986 - C3 P01024 VAR_001983 p.Arg102Gly Polymorphism rs2230199 - C3 P01024 VAR_001984 p.Pro314Leu Polymorphism rs1047286 - C3 P01024 VAR_001985 p.Asp549Asn Disease - Complement component 3 deficiency (C3D) [MIM:613779] C3 P01024 VAR_001986 p.Arg1320Gln Disease - Complement component 3 deficiency (C3D) [MIM:613779] C3 P01024 VAR_019206 p.Arg863Lys Polymorphism rs11569472 - C3 P01024 VAR_019207 p.Gly1224Asp Polymorphism rs11569534 - C3 P01024 VAR_019208 p.Ile1367Thr Polymorphism rs11569541 - C3 P01024 VAR_020262 p.Glu469Asp Polymorphism rs11569422 - C3 P01024 VAR_022761 p.Asp1216Asn Unclassified - - C3 P01024 VAR_029326 p.Ser1619Arg Polymorphism rs2230210 - C3 P01024 VAR_029792 p.Gln1521Arg Polymorphism rs7256789 - C3 P01024 VAR_029793 p.His1601Asn Polymorphism rs1803225 - C3 P01024 VAR_063213 p.Arg592Gln Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063214 p.Arg592Trp Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063215 p.Arg735Trp Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063216 p.Ala1094Val Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063217 p.Asp1115Asn Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063218 p.Cys1158Trp Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063219 p.Gln1161Lys Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063220 p.His1464Asp Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063654 p.Phe603Val Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063655 p.Arg1042Leu Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] C3P1 Q6ZMU1 VAR_044412 p.Gln172Arg Polymorphism rs8113341 - C3P1 Q6ZMU1 VAR_044413 p.Asp230Asn Polymorphism rs10403787 - C3P1 Q6ZMU1 VAR_044414 p.Asp251Gly Polymorphism rs1993466 - C3P1 Q6ZMU1 VAR_044415 p.Leu262Arg Polymorphism rs4552116 - C4A P0C0L4 VAR_001987 p.Arg477Trp Polymorphism - - C4A P0C0L4 VAR_001988 p.Pro726Leu Polymorphism - - C4A P0C0L4 VAR_001992 p.Thr1201Ser Polymorphism - - C4A P0C0L4 VAR_001993 p.Val1207Ala Polymorphism rs28357075 - C4A P0C0L4 VAR_001994 p.Leu1210Arg Polymorphism rs28357076 - C4A P0C0L4 VAR_001995 p.Ser1286Ala Polymorphism rs201016130 - C4A P0C0L4 VAR_019778 p.Ser347Tyr Polymorphism rs150969927 - C4A P0C0L4 VAR_019779 p.Asp727Asn Polymorphism - - C4A P0C0L4 VAR_019780 p.Ala907Thr Polymorphism rs141302872 - C4B P0C0L5 VAR_023729 p.Ser347Tyr Polymorphism rs139889867 - C4B P0C0L5 VAR_023730 p.Thr907Ala Polymorphism - - C4B P0C0L5 VAR_023731 p.Gly1073Asp Polymorphism - - C4B P0C0L5 VAR_023732 p.Ser1176Asn Polymorphism rs2746414 - C4B P0C0L5 VAR_023734 p.Ala1207Val Polymorphism rs200888163 - C4B P0C0L5 VAR_023735 p.Arg1210Leu Polymorphism rs112683215 - C4BPA P04003 VAR_001978 p.Tyr357His Polymorphism - - C4BPA P04003 VAR_012038 p.Trp473Leu Polymorphism rs1801341 - C4BPA P04003 VAR_024420 p.Ile300Thr Polymorphism rs4844573 - C4BPA P04003 VAR_048815 p.Ala60Val Polymorphism rs17020956 - C4BPA P04003 VAR_061123 p.Pro4Gln Polymorphism rs55867570 - C4BPA P04003 VAR_061124 p.Arg240His Polymorphism rs45574833 - C4BPB P20851 VAR_012039 p.Pro198Ser Polymorphism rs1803226 - C4BPB P20851 VAR_038734 p.Lys102Gln Polymorphism rs56258224 - C4orf17 Q53FE4 VAR_028110 p.Gly64Glu Polymorphism rs13143848 - C4orf17 Q53FE4 VAR_028111 p.Ser85Pro Polymorphism rs13119384 - C4orf17 Q53FE4 VAR_028112 p.Glu91Lys Polymorphism rs17029087 - C4orf19 Q8IY42 VAR_032118 p.Ala151Thr Polymorphism rs2973275 - C4orf19 Q8IY42 VAR_032119 p.Glu274Gly Polymorphism rs3733500 - C4orf19 Q8IY42 VAR_050770 p.Asp39Glu Polymorphism rs6852908 - C4orf21 Q86YA3 VAR_032147 p.Asn410Ser Polymorphism rs7696816 - C4orf21 Q86YA3 VAR_032148 p.Gly451Glu Polymorphism rs17854334 - C4orf21 Q86YA3 VAR_032149 p.Thr978Ile Polymorphism rs17669218 - C4orf22 Q6V702 VAR_034913 p.Thr138Met Polymorphism rs11947742 - C4orf22 Q6V702 VAR_034914 p.Val220Ile Polymorphism rs1052325 - C4orf26 Q17RF5 VAR_034915 p.Pro30Leu Polymorphism rs2306175 - C4orf26 Q17RF5 VAR_034916 p.Arg109His Polymorphism rs2306174 - C4orf27 Q9NWY4 VAR_033183 p.Arg174Lys Polymorphism rs1047642 - C4orf27 Q9NWY4 VAR_033184 p.Glu331Asp Polymorphism rs1047706 - C4orf32 Q8N8J7 VAR_032150 p.Pro46Gln Polymorphism rs17852081 - C4orf33 Q8N1A6 VAR_033334 p.Arg40Met Polymorphism rs35199409 - C4orf33 Q8N1A6 VAR_033335 p.Ser104Leu Polymorphism rs2271570 - C4orf33 Q8N1A6 VAR_033336 p.Met107Val Polymorphism rs337277 - C4orf33 Q8N1A6 VAR_033337 p.His166Arg Polymorphism rs17351999 - C4orf36 Q96KX1 VAR_029755 p.Ser36Tyr Polymorphism rs1550931 - C4orf36 Q96KX1 VAR_056784 p.Ser18Asn Polymorphism rs11938345 - C4orf3 Q8WVX3 VAR_039911 p.Arg17Gln Polymorphism rs17851522 - C4orf3 Q8WVX3 VAR_039912 p.Pro32His Polymorphism rs11544530 - C4orf40 Q6MZM9 VAR_043927 p.Ile44Leu Polymorphism rs1612460 - C4orf40 Q6MZM9 VAR_043928 p.Arg91Cys Polymorphism rs1613461 - C4orf45 Q96LM5 VAR_039901 p.Ala46Val Polymorphism rs17037864 - C4orf45 Q96LM5 VAR_039902 p.Ser75Gly Polymorphism rs662473 - C4orf45 Q96LM5 VAR_039903 p.Tyr84Cys Polymorphism rs17037858 - C4orf45 Q96LM5 VAR_039904 p.Gly93Glu Polymorphism rs619128 - C4orf45 Q96LM5 VAR_039905 p.Arg134His Polymorphism rs10517695 - C4orf50 Q6ZRC1 VAR_042680 p.Arg86Trp Polymorphism rs16837960 - C4orf50 Q6ZRC1 VAR_042681 p.Ala150Pro Unclassified - A breast cancer sample C4orf50 Q6ZRC1 VAR_042682 p.Ile177Val Polymorphism rs6839295 - C4orf50 Q6ZRC1 VAR_042683 p.Val199Met Polymorphism rs7695618 - C4orf52 Q8N5G0 VAR_039965 p.Ala41Thr Polymorphism rs2305669 - C4orf52 Q8N5G0 VAR_039966 p.Ser65Asn Polymorphism rs6448414 - C4orf52 Q8N5G0 VAR_039967 p.His76Asn Polymorphism rs2305670 - C4orf52 Q8N5G0 VAR_039968 p.Ala109Thr Polymorphism rs4521339 - C4orf6 Q99440 VAR_024301 p.Asn15Lys Polymorphism rs886532 - C5AR1 P21730 VAR_049377 p.Asp2Asn Polymorphism rs4467185 - C5AR1 P21730 VAR_049378 p.Lys279Asn Polymorphism rs11880097 - C5orf22 Q49AR2 VAR_035149 p.Thr235Pro Polymorphism rs17410000 - C5orf22 Q49AR2 VAR_035150 p.Asp405Glu Polymorphism rs16901277 - C5orf27 Q52M75 VAR_035138 p.Arg85Cys Polymorphism rs17366761 - C5orf34 Q96MH7 VAR_035618 p.Ser266Arg Unclassified - A breast cancer sample C5orf34 Q96MH7 VAR_061589 p.Thr32Ser Polymorphism rs6872851 - C5orf42 Q9H799 VAR_042948 p.Ile1437Thr Polymorphism rs6859950 - C5orf42 Q9H799 VAR_042949 p.Phe2033Cys Polymorphism rs10076911 - C5orf42 Q9H799 VAR_042950 p.Ile2143Val Polymorphism rs6884652 - C5orf42 Q9H799 VAR_042951 p.Pro2592Leu Polymorphism rs16903518 - C5orf42 Q9H799 VAR_042952 p.Gly3062Arg Polymorphism rs7702892 - C5orf45 Q6NTE8 VAR_039990 p.Gln97Arg Polymorphism rs1650893 - C5orf45 Q6NTE8 VAR_039991 p.Arg154Gly Polymorphism rs248248 - C5orf45 Q6NTE8 VAR_039992 p.Gln231Arg Polymorphism rs10277 - C5orf45 Q6NTE8 VAR_054030 p.Gln42Arg Polymorphism rs1650893 - C5orf46 Q6UWT4 VAR_056787 p.Phe18Ile Polymorphism rs7722926 - C5orf49 A4QMS7 VAR_043546 p.Gln68His Polymorphism rs6883562 - C5orf49 A4QMS7 VAR_043547 p.Glu87Lys Polymorphism rs16879215 - C5orf49 A4QMS7 VAR_043548 p.Pro139Ser Polymorphism rs326181 - C5orf4 Q96IV6 VAR_048900 p.Arg133His Polymorphism rs17641488 - C5orf50 A6NLE4 VAR_057736 p.Thr36Met Polymorphism rs10037031 - C5orf51 A6NDU8 VAR_044032 p.Gln20His Polymorphism rs12520325 - C5orf54 Q8IZ13 VAR_046179 p.Ala523Ser Polymorphism rs10515808 - C5orf55 Q8N2X6 VAR_046197 p.Pro50Ser Polymorphism rs10035653 - C5orf55 Q8N2X6 VAR_046198 p.Arg118Gly Polymorphism rs10035612 - C5orf60 A6NFR6 VAR_044323 p.Arg55Cys Polymorphism rs1319931 - C5orf60 A6NFR6 VAR_044324 p.Leu56Pro Polymorphism rs13168357 - C5orf64 Q2M2E5 VAR_043940 p.Ala57Thr Polymorphism rs16893687 - C5orf64 Q2M2E5 VAR_043941 p.Arg101Trp Polymorphism rs436696 - C5 P01031 VAR_001996 p.Phe518Ser Polymorphism - - C5 P01031 VAR_014574 p.Val802Ile Polymorphism rs17611 - C5 P01031 VAR_014575 p.Met1053Leu Polymorphism rs17609 - C5 P01031 VAR_014576 p.Ser1310Asn Polymorphism rs17610 - C5 P01031 VAR_014577 p.Glu1437Asp Polymorphism rs17612 - C5 P01031 VAR_023946 p.Thr389Ile Polymorphism - - C5 P01031 VAR_038735 p.Val145Ile Polymorphism rs17216529 - C5 P01031 VAR_038736 p.Arg449Gly Polymorphism rs2230213 - C5 P01031 VAR_038737 p.Arg928Gln Polymorphism rs41309892 - C5 P01031 VAR_038738 p.Gly933Val Polymorphism rs41309902 - C5 P01031 VAR_038739 p.Ile1033Thr Polymorphism rs41311881 - C5 P01031 VAR_038740 p.Asp1037Asn Polymorphism rs41311883 - C5 P01031 VAR_038741 p.Gln1043Lys Polymorphism rs41311887 - C5 P01031 VAR_048822 p.Leu354Met Polymorphism rs34552775 - C5 P01031 VAR_048823 p.Asp966Tyr Polymorphism rs2230212 - C5 P01031 VAR_048824 p.Val1365Ala Polymorphism rs16910245 - C6orf100 Q5JQF7 VAR_036902 p.Gly41Glu Polymorphism rs2071790 - C6orf10 Q5SRN2 VAR_022875 p.Cys30Arg Polymorphism rs3129941 - C6orf10 Q5SRN2 VAR_022876 p.Tyr36His Polymorphism rs9268384 - C6orf10 Q5SRN2 VAR_022877 p.Tyr69Cys Polymorphism rs9268368 - C6orf10 Q5SRN2 VAR_022878 p.Pro128Leu Polymorphism rs1033500 - C6orf10 Q5SRN2 VAR_022879 p.Ile150Phe Polymorphism rs1265754 - C6orf10 Q5SRN2 VAR_022880 p.Ser170Pro Polymorphism rs9405090 - C6orf10 Q5SRN2 VAR_022881 p.Ser227Pro Polymorphism rs560505 - C6orf10 Q5SRN2 VAR_022882 p.Ile315Val Polymorphism rs3749966 - C6orf10 Q5SRN2 VAR_022883 p.Lys400Gln Polymorphism rs7775397 - C6orf10 Q5SRN2 VAR_033068 p.Pro161Leu Polymorphism rs1003878 - C6orf10 Q5SRN2 VAR_056793 p.Leu266Trp Polymorphism rs4947338 - C6orf10 Q5SRN2 VAR_056794 p.Pro274Ser Polymorphism rs34498363 - C6orf10 Q5SRN2 VAR_056795 p.Ala433Thr Polymorphism rs16870005 - C6orf10 Q5SRN2 VAR_056796 p.Gly479Val Polymorphism rs7751028 - C6orf118 Q5T5N4 VAR_022887 p.Ile256Met Polymorphism rs510579 - C6orf118 Q5T5N4 VAR_022888 p.Val363Leu Polymorphism rs9459350 - C6orf118 Q5T5N4 VAR_050807 p.Arg166Leu Polymorphism rs36007498 - C6orf118 Q5T5N4 VAR_050808 p.Gly271Glu Polymorphism rs17852379 - C6orf118 Q5T5N4 VAR_050809 p.Thr301Met Polymorphism rs540751 - C6orf118 Q5T5N4 VAR_050810 p.Arg385Gln Polymorphism rs17856754 - C6orf132 Q5T0Z8 VAR_056799 p.Lys4Asn Polymorphism rs9688934 - C6orf141 Q5SZD1 VAR_022939 p.Gln137Glu Polymorphism rs6919674 - C6orf141 Q5SZD1 VAR_030643 p.Pro235Leu Polymorphism rs9473588 - C6orf15 Q6UXA7 VAR_022907 p.Leu40Phe Polymorphism rs2233974 - C6orf15 Q6UXA7 VAR_022908 p.Asn43Asp Polymorphism rs2233975 - C6orf15 Q6UXA7 VAR_022909 p.Ala83Pro Polymorphism rs1265053 - C6orf15 Q6UXA7 VAR_022910 p.Lys165Glu Polymorphism rs1265054 - C6orf15 Q6UXA7 VAR_028732 p.Val81Ala Polymorphism rs2233977 - C6orf15 Q6UXA7 VAR_028733 p.Ala145Pro Polymorphism rs2233978 - C6orf15 Q6UXA7 VAR_028734 p.Gly291Asp Polymorphism rs2233984 - C6orf15 Q6UXA7 VAR_050801 p.Gly48Arg Polymorphism rs2233976 - C6orf15 Q6UXA7 VAR_050802 p.Met232Ile Polymorphism rs2233982 - C6orf15 Q6UXA7 VAR_054399 p.Val5Met Polymorphism rs2270191 - C6orf165 Q8IYR0 VAR_033679 p.Arg154Lys Polymorphism rs13219364 - C6orf165 Q8IYR0 VAR_033680 p.Gly170Ala Polymorphism rs16879281 - C6orf195 Q96MT4 VAR_050813 p.Ile2Phe Polymorphism rs17135340 - C6orf195 Q96MT4 VAR_050814 p.Pro43Ser Polymorphism rs9503233 - C6orf1 Q86T20 VAR_056792 p.Met141Ile Polymorphism rs34410712 - C6orf1 Q86T20 VAR_060383 p.Gly150Ala Polymorphism rs1150781 - C6orf201 Q7Z4U5 VAR_056805 p.Arg20Pro Polymorphism rs619483 - C6orf201 Q7Z4U5 VAR_056806 p.Asp25Tyr Polymorphism rs9503910 - C6orf201 Q7Z4U5 VAR_064769 p.Asn117Lys Polymorphism rs643232 - C6orf211 Q9H993 VAR_025791 p.Pro77Arg Polymorphism rs17850732 - C6orf211 Q9H993 VAR_053090 p.Lys73Asn Polymorphism rs35036943 - C6orf211 Q9H993 VAR_053091 p.Gly150Glu Polymorphism rs35734927 - C6orf211 Q9H993 VAR_053092 p.Ser154Ala Polymorphism rs34437617 - C6orf211 Q9H993 VAR_053093 p.His161Pro Polymorphism rs36037706 - C6orf211 Q9H993 VAR_053094 p.Ile264Val Polymorphism rs35989216 - C6orf211 Q9H993 VAR_053095 p.Ala317Thr Polymorphism rs35972078 - C6orf222 P0C671 VAR_056808 p.Leu582Val Polymorphism rs743852 - C6orf223 Q8N319 VAR_050816 p.Lys48Glu Polymorphism rs2295333 - C6orf223 Q8N319 VAR_061592 p.Val107Met Polymorphism rs60336135 - C6orf47 O95873 VAR_022911 p.Gly68Arg Polymorphism rs3130617 - C6orf47 O95873 VAR_056797 p.Lys92Asn Polymorphism rs2242655 - C6orf52 Q5T4I8 VAR_033318 p.Ala13Asp Polymorphism rs7749306 - C6orf57 Q5VUM1 VAR_026890 p.Gln46Arg Polymorphism rs1048886 - C6orf57 Q5VUM1 VAR_053598 p.Arg57Cys Polymorphism rs34711085 - C6orf58 Q6P5S2 VAR_033675 p.Cys308Gly Polymorphism rs9491833 - C6orf62 Q9GZU0 VAR_050803 p.Trp116Cys Polymorphism rs34238213 - C6orf62 Q9GZU0 VAR_050804 p.Arg140Ser Polymorphism rs35050510 - C6orf70 Q5T6L9 VAR_033300 p.Ser540Gly Polymorphism rs4716346 - C6 P13671 VAR_006056 p.Ala119Glu Polymorphism rs1801033 - C6 P13671 VAR_027647 p.Lys397Glu Polymorphism rs6896011 - C6 P13671 VAR_027648 p.Ser470Phe Polymorphism rs10462014 - C7orf10 Q9HAC7 VAR_054852 p.Arg336Trp Disease - Glutaric aciduria type 3 (GA3) [MIM:231690] C7orf25 Q9BPX7 VAR_053848 p.Gly265Glu Polymorphism rs3735471 - C7orf26 Q96N11 VAR_061593 p.Arg245Cys Polymorphism rs35534502 - C7orf31 Q8N865 VAR_022781 p.Tyr82Cys Polymorphism rs2717858 - C7orf31 Q8N865 VAR_022782 p.Ala158Thr Polymorphism rs12535348 - C7orf31 Q8N865 VAR_022783 p.Thr187Ser Polymorphism rs2523072 - C7orf31 Q8N865 VAR_022784 p.His300Arg Polymorphism rs2285738 - C7orf31 Q8N865 VAR_056809 p.Glu13Lys Polymorphism rs11980216 - C7orf31 Q8N865 VAR_056810 p.Arg86Cys Polymorphism rs3213642 - C7orf31 Q8N865 VAR_056811 p.Pro238Gln Polymorphism rs11984293 - C7orf31 Q8N865 VAR_056812 p.Ala249Thr Polymorphism rs17150982 - C7orf31 Q8N865 VAR_060608 p.Pro143Gln Polymorphism rs17855102 - C7orf31 Q8N865 VAR_060609 p.Asn518Asp Polymorphism rs17857512 - C7orf43 Q8WVR3 VAR_050817 p.Arg295His Polymorphism rs2293477 - C7orf45 Q8WWF3 VAR_029873 p.Arg88Trp Polymorphism rs4728190 - C7orf55 Q96HJ9 VAR_042520 p.Ser8Ala Polymorphism rs10265 - C7orf57 Q8NEG2 VAR_056813 p.Ala74Ser Polymorphism rs10951942 - C7orf62 Q8TBZ9 VAR_039351 p.Asp48His Polymorphism rs2373396 - C7orf62 Q8TBZ9 VAR_039352 p.Ile126Val Polymorphism rs2293583 - C7orf62 Q8TBZ9 VAR_039353 p.Cys186Ser Polymorphism rs34276371 - C7orf62 Q8TBZ9 VAR_039354 p.Glu221Lys Polymorphism rs2373397 - C7orf62 Q8TBZ9 VAR_039355 p.Glu221Ala Polymorphism rs2373398 - C7orf63 A5D8W1 VAR_039219 p.Ser22Arg Polymorphism rs17862129 - C7orf63 A5D8W1 VAR_039220 p.Arg306Cys Polymorphism rs17866223 - C7orf63 A5D8W1 VAR_039221 p.Pro459Leu Polymorphism rs17865959 - C7orf63 A5D8W1 VAR_039222 p.Val490Met Polymorphism rs1029365 - C7orf63 A5D8W1 VAR_039223 p.Thr885Met Polymorphism rs17865475 - C7orf69 Q9H7B7 VAR_043942 p.Lys32Glu Polymorphism rs9719534 - C7 P10643 VAR_012643 p.Arg220Gln Disease - Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012644 p.Gly379Arg Disease - Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012645 p.Arg521Ser Disease - Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012646 p.Glu682Gln Disease - Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012647 p.Arg687His Disease - Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_022023 p.Lys420Gln Polymorphism rs3792646 - C7 P10643 VAR_033798 p.Ser389Thr Polymorphism rs1063499 - C7 P10643 VAR_033799 p.Thr587Pro Polymorphism rs13157656 - C7 P10643 VAR_050480 p.Cys128Arg Polymorphism rs2271708 - C8A P07357 VAR_011889 p.Gln93Lys Polymorphism rs652785 - C8A P07357 VAR_011890 p.Thr407Ile Polymorphism rs706479 - C8A P07357 VAR_011891 p.Arg485Leu Polymorphism rs1620075 - C8A P07357 VAR_011892 p.Glu561Gln Polymorphism rs1342440 - C8A P07357 VAR_033800 p.Asp458Asn Polymorphism rs17114555 - C8A P07357 VAR_033801 p.Pro575Leu Polymorphism rs17300936 - C8B P07358 VAR_012642 p.Arg117Gly Polymorphism rs1013579 - C8B P07358 VAR_027649 p.Glu108Lys Polymorphism rs12067507 - C8B P07358 VAR_027650 p.Pro261Leu Polymorphism rs12085435 - C8G P07360 VAR_014668 p.Arg69Gln Polymorphism rs17614 - C8G P07360 VAR_014669 p.His124Asn Polymorphism rs17613 - C8G P07360 VAR_044319 p.Asp118Gly Polymorphism rs7850844 - C8orf17 Q9NRJ1 VAR_042878 p.Thr19Met Polymorphism rs2233233 - C8orf17 Q9NRJ1 VAR_042879 p.Lys49Arg Polymorphism rs2233235 - C8orf17 Q9NRJ1 VAR_042880 p.Thr57Ile Polymorphism rs2233236 - C8orf31 Q8N9H6 VAR_033150 p.Leu39Pro Polymorphism rs11136300 - C8orf34 Q49A92 VAR_042690 p.Lys75Asn Unclassified - A colorectal cancer sample C8orf34 Q49A92 VAR_042691 p.Ala426Thr Polymorphism rs16935065 - C8orf37 Q96NL8 VAR_033683 p.Pro19Ala Polymorphism rs36096184 - C8orf44 Q96CB5 VAR_030888 p.Gln131Arg Polymorphism rs1909534 - C8orf44 Q96CB5 VAR_030889 p.Phe148Ser Polymorphism rs1057463 - C8orf47 Q6P6B1 VAR_033176 p.Arg59His Polymorphism rs7833473 - C8orf47 Q6P6B1 VAR_033177 p.Gln244Pro Polymorphism rs35368005 - C8orf47 Q6P6B1 VAR_033178 p.His287Arg Polymorphism rs11994440 - C8orf48 Q96LL4 VAR_063134 p.Ser28Phe Polymorphism rs13273355 - C8orf48 Q96LL4 VAR_063135 p.Leu285Met Polymorphism rs11203497 - C8orf49 Q96NF6 VAR_029849 p.Arg26Gly Polymorphism rs804285 - C8orf49 Q96NF6 VAR_029850 p.Ile81Val Polymorphism rs809204 - C8orf49 Q96NF6 VAR_029851 p.Arg95Gly Polymorphism rs13281294 - C8orf4 Q9NR00 VAR_050819 p.Val10Ile Polymorphism rs6474226 - C8orf74 Q6P047 VAR_033684 p.Leu15Phe Polymorphism rs11250058 - C8orf74 Q6P047 VAR_061596 p.Ile222Val Polymorphism rs57041981 - C8orf86 Q6ZUL3 VAR_046186 p.Arg81His Polymorphism rs1378332 - C9orf114 Q5T280 VAR_026552 p.Thr130Arg Polymorphism rs6478854 - C9orf114 Q5T280 VAR_026553 p.Ile369Thr Polymorphism rs2280843 - C9orf114 Q5T280 VAR_050844 p.Ala63Val Polymorphism rs34500948 - C9orf117 Q5JU67 VAR_050845 p.Tyr483Ser Polymorphism rs497632 - C9orf123 Q96GE9 VAR_056819 p.Pro28Thr Polymorphism rs1127430 - C9orf129 Q5T035 VAR_061600 p.Arg191His Polymorphism rs36081907 - C9orf131 Q5VYM1 VAR_047239 p.Trp222Leu Polymorphism rs615474 - C9orf131 Q5VYM1 VAR_047240 p.Leu285Phe Polymorphism rs10117097 - C9orf131 Q5VYM1 VAR_047241 p.Leu437Val Polymorphism rs35523761 - C9orf131 Q5VYM1 VAR_047242 p.Ser623Thr Polymorphism rs2298312 - C9orf131 Q5VYM1 VAR_047243 p.Pro916Ser Polymorphism rs3739871 - C9orf139 Q6ZV77 VAR_031749 p.Lys168Glu Polymorphism rs12337910 - C9orf141 Q5SQ13 VAR_044192 p.Leu8Phe Polymorphism rs11787585 - C9orf141 Q5SQ13 VAR_044193 p.Gln37Arg Polymorphism rs2386136 - C9orf141 Q5SQ13 VAR_044194 p.Trp220Gly Polymorphism rs11790360 - C9orf156 Q9BU70 VAR_032527 p.Ser7Pro Polymorphism rs3183927 - C9orf156 Q9BU70 VAR_032528 p.Val252Ala Polymorphism rs35606344 - C9orf156 Q9BU70 VAR_032529 p.Val324Met Polymorphism rs2282192 - C9orf163 Q8N9P6 VAR_032526 p.Leu5Pro Polymorphism rs34376913 - C9orf171 Q6ZQR2 VAR_039959 p.Gly137Arg Polymorphism rs7047726 - C9orf171 Q6ZQR2 VAR_039960 p.Arg172Trp Unclassified - A colorectal cancer sample C9orf171 Q6ZQR2 VAR_039961 p.Arg184His Polymorphism rs11243798 - C9orf171 Q6ZQR2 VAR_062164 p.Lys244Gln Polymorphism rs34650498 - C9orf173 Q8N7X2 VAR_039898 p.Ser126Gly Polymorphism rs28657439 - C9orf174 Q9P1Z9 VAR_038151 p.Pro301His Polymorphism rs7864805 - C9orf174 Q9P1Z9 VAR_038152 p.Ser322Arg Polymorphism rs17855671 - C9orf174 Q9P1Z9 VAR_038153 p.Leu373His Polymorphism rs10981558 - C9orf174 Q9P1Z9 VAR_038154 p.Glu917Lys Polymorphism rs12353306 - C9orf174 Q9P1Z9 VAR_038155 p.Ser995Cys Polymorphism rs2061634 - C9orf174 Q9P1Z9 VAR_038156 p.Phe1146Leu Polymorphism rs3747495 - C9orf174 Q9P1Z9 VAR_038157 p.Asp1518Asn Polymorphism rs2306093 - C9orf174 Q9P1Z9 VAR_061250 p.Pro548Arg Polymorphism rs61261278 - C9orf43 Q8TAL5 VAR_061597 p.Asp252Gly Polymorphism rs41313331 - C9orf50 Q5SZB4 VAR_033220 p.Arg248Lys Polymorphism rs918165 - C9orf50 Q5SZB4 VAR_033221 p.Arg312Gln Polymorphism rs3213763 - C9orf50 Q5SZB4 VAR_033222 p.Arg381Gln Polymorphism rs2302779 - C9orf50 Q5SZB4 VAR_033223 p.Lys415Arg Polymorphism rs3087721 - C9orf66 Q5T8R8 VAR_050824 p.Leu43Arg Polymorphism rs636922 - C9orf66 Q5T8R8 VAR_050825 p.Arg178Gln Polymorphism rs2236547 - C9orf66 Q5T8R8 VAR_050826 p.Arg231Gly Polymorphism rs540473 - C9orf72 Q96LT7 VAR_050827 p.Asn207Ser Polymorphism rs17769294 - C9orf78 Q9NZ63 VAR_050828 p.Gln70His Polymorphism rs1237745 - C9orf84 Q5VXU9 VAR_050829 p.Thr226Ser Polymorphism rs10981047 - C9orf84 Q5VXU9 VAR_050830 p.His416Arg Polymorphism rs7470491 - C9orf84 Q5VXU9 VAR_050831 p.Ile649Thr Polymorphism rs1322257 - C9orf84 Q5VXU9 VAR_050832 p.Met734Leu Polymorphism rs11791445 - C9orf84 Q5VXU9 VAR_050833 p.Arg788Lys Polymorphism rs7868266 - C9orf84 Q5VXU9 VAR_050834 p.Asn809Lys Polymorphism rs7036568 - C9orf84 Q5VXU9 VAR_050835 p.Tyr932Cys Polymorphism rs1407390 - C9orf84 Q5VXU9 VAR_050836 p.Leu968Pro Polymorphism rs6477845 - C9orf84 Q5VXU9 VAR_050837 p.Ile1162Thr Polymorphism rs1475110 - C9orf84 Q5VXU9 VAR_050838 p.Glu1174Gly Polymorphism rs7869279 - C9orf84 Q5VXU9 VAR_050839 p.Asn1380Lys Polymorphism rs1322254 - C9orf84 Q5VXU9 VAR_050840 p.Arg1425Cys Polymorphism rs10981009 - C9orf9 Q96E40 VAR_056817 p.Val104Ile Polymorphism rs2231406 - C9 P02748 VAR_012648 p.Cys119Gly Disease - Complement component 9 deficiency (C9D) [MIM:613825] C9 P02748 VAR_022024 p.Arg5Trp Polymorphism rs700233 - C9 P02748 VAR_027651 p.Ile203Val Polymorphism rs13361416 - C9 P02748 VAR_033802 p.Thr279Ser Polymorphism rs34625111 - C9 P02748 VAR_050481 p.Asp127Tyr Polymorphism rs696763 - C9 P02748 VAR_061503 p.Ser427Thr Polymorphism rs34421659 - CA12 O43570 VAR_065292 p.Glu143Lys Disease - Hyperchlorhidrosis isolated (HCHLH) [MIM:143860] CA13 Q8N1Q1 VAR_059207 p.Asn68Ser Polymorphism rs4740046 - CA1 P00915 VAR_001378 p.His68Arg Unclassified - - CA1 P00915 VAR_001379 p.Gly254Arg Unclassified - - CA1 P00915 VAR_048679 p.Ala143Val Polymorphism rs7821248 - CA2 P00918 VAR_001380 p.Lys18Glu Unclassified - - CA2 P00918 VAR_001381 p.Gln92Pro Disease - Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730] CA2 P00918 VAR_001382 p.His107Tyr Disease - Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730] CA2 P00918 VAR_001383 p.Pro236His Unclassified - - CA2 P00918 VAR_001384 p.Asn252Asp Polymorphism rs2228063 - CA2 P00918 VAR_021009 p.His94Tyr Disease - Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730] CA2 P00918 VAR_021010 p.Gly144Arg Disease - Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730] CA3 P07451 VAR_016180 p.Val31Ile Polymorphism rs20571 - CA4 P22748 VAR_024749 p.Arg14Trp Disease - Retinitis pigmentosa type 17 (RP17) [MIM:600852] CA4 P22748 VAR_024750 p.Arg219Ser Disease - Retinitis pigmentosa type 17 (RP17) [MIM:600852] CA4 P22748 VAR_048680 p.Val237Leu Polymorphism rs2229178 - CA6 P23280 VAR_028268 p.Thr55Met Polymorphism rs2274327 - CA6 P23280 VAR_028269 p.Met68Leu Polymorphism rs2274328 - CA6 P23280 VAR_028270 p.Gly70Ala Polymorphism rs2274329 - CA6 P23280 VAR_028271 p.Ser90Gly Polymorphism rs2274333 - CA6 P23280 VAR_033712 p.Gln37Leu Polymorphism rs34265054 - CA6 P23280 VAR_061093 p.Arg58Trp Polymorphism rs58800854 - CA8 P35219 VAR_063634 p.Ser100Pro Disease - Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227] CA9 Q16790 VAR_010787 p.Val33Met Polymorphism rs2071676 - CA9 Q16790 VAR_020049 p.Gln326Arg Polymorphism rs3829078 - CAAP1 Q9H8G2 VAR_056818 p.Val233Met Polymorphism rs12342214 - CABIN1 Q9Y6J0 VAR_052607 p.Ala56Thr Polymorphism rs5760185 - CABIN1 Q9Y6J0 VAR_052608 p.Asp225Asn Polymorphism rs17004823 - CABIN1 Q9Y6J0 VAR_052609 p.Ser517Arg Polymorphism rs9624393 - CABIN1 Q9Y6J0 VAR_052610 p.Arg660Ser Polymorphism rs9624395 - CABIN1 Q9Y6J0 VAR_052611 p.Arg853Gln Polymorphism rs17854874 - CABIN1 Q9Y6J0 VAR_052612 p.Gln921Glu Polymorphism rs12166151 - CABLES2 Q9BTV7 VAR_026532 p.Thr428Lys Polymorphism rs6089219 - CABP2 Q9NPB3 VAR_063087 p.Arg94Gln Polymorphism rs2276118 - CABP4 P57796 VAR_029375 p.Arg124Cys Disease - Congenital stationary night blindness type 2B (CSNB2B) [MIM:610427] CABP5 Q9NP86 VAR_020020 p.Val128Ala Polymorphism rs3745746 - CABP5 Q9NP86 VAR_033695 p.Thr65Arg Polymorphism rs34862923 - CABP5 Q9NP86 VAR_048633 p.Leu80Pro Polymorphism rs8105198 - CABP5 Q9NP86 VAR_048634 p.Glu140Lys Polymorphism rs34681062 - CABP5 Q9NP86 VAR_048635 p.Ile147Ser Polymorphism rs10425606 - CABS1 Q96KC9 VAR_043924 p.Lys76Gln Polymorphism rs3796706 - CABS1 Q96KC9 VAR_043925 p.Thr211Ile Polymorphism rs1351419 - CABS1 Q96KC9 VAR_043926 p.Trp298Gly Polymorphism rs2291182 - CABYR O75952 VAR_023818 p.Ser490Ala Polymorphism rs1049683 - CABYR O75952 VAR_030040 p.Thr74Met Polymorphism rs3786417 - CABYR O75952 VAR_030041 p.Lys448Arg Polymorphism rs1049682 - CABYR O75952 VAR_050709 p.Ile186Val Polymorphism rs35118855 - CACHD1 Q5VU97 VAR_035052 p.Met414Thr Polymorphism rs6588100 - CACNA1A O00555 VAR_001491 p.Arg192Gln Disease rs121908211 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_001492 p.Thr666Met Disease rs121908212 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_001492 p.Thr666Met Disease rs121908212 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_001493 p.Val714Ala Disease rs121908213 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_001494 p.Ile1810Leu Disease rs121908214 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_014456 p.Ala21Val Polymorphism rs15999 - CACNA1A O00555 VAR_014458 p.Pro914Ser Polymorphism rs16020 - CACNA1A O00555 VAR_014459 p.Glu918Asp Polymorphism rs16022 - CACNA1A O00555 VAR_014461 p.Glu1015Lys Polymorphism rs16024 - CACNA1A O00555 VAR_014462 p.Gly1105Ser Polymorphism rs16027 - CACNA1A O00555 VAR_014463 p.Pro2394Ser Polymorphism rs16056 - CACNA1A O00555 VAR_043820 p.Arg195Lys Disease rs121908222 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043821 p.Ser218Leu Disease rs121908225 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043822 p.His253Tyr Disease rs121908228 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043823 p.Cys256Arg Disease rs121908231 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043824 p.Cys287Tyr Disease rs121908236 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043825 p.Gly293Arg Disease rs121908215 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043825 p.Gly293Arg Disease rs121908215 Spinocerebellar ataxia type 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_043826 p.Arg583Gln Disease rs121908217 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043827 p.Asp715Glu Disease rs121908218 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043828 p.Glu993Val Polymorphism rs16023 - CACNA1A O00555 VAR_043829 p.Lys1335Glu Disease rs121908223 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043830 p.Arg1346Gln Disease rs121908230 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043831 p.Tyr1384Cys Disease rs121908219 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043832 p.Phe1403Cys Disease rs121908227 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043833 p.Val1456Leu Disease rs121908237 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043834 p.Gly1482Arg Disease rs121908232 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043835 p.Phe1490Ser Disease rs121908233 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043836 p.Val1493Ile Disease rs121908234 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043837 p.Arg1661His Disease rs121908216 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043838 p.Arg1667Trp Disease rs121908220 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043839 p.Trp1683Arg Disease rs121908221 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043840 p.His1736Leu Disease rs121908229 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043841 p.Glu1756Lys Disease rs121908226 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043842 p.Arg2135Cys Disease rs121908235 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_059221 p.Glu732Ala Polymorphism rs16019 - CACNA1A O00555 VAR_059222 p.Pro1173Leu Polymorphism rs16028 - CACNA1A O00555 VAR_063683 p.Tyr248Cys Disease rs121908238 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063684 p.Leu389Phe Disease rs121908239 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063685 p.Ala405Thr Disease rs1219082456Spinocerebellar ataxia type 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_063686 p.Ala454Thr Polymorphism rs41276886 - CACNA1A O00555 VAR_063687 p.Thr501Met Disease rs121908240 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063688 p.Gly638Asp Disease rs121908246 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063689 p.Met798Thr Disease rs121908241 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063690 p.Pro897Arg Disease rs121908242 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063691 p.Arg1664Gln Disease rs121908247 Spinocerebellar ataxia type 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_063692 p.Arg1679Cys Disease rs121908243 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063693 p.Cys1869Arg Disease rs121908244 Episodic ataxia type 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063706 p.Val1695Ile Disease rs121908224 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] CACNA1B Q00975 VAR_048741 p.Asn167Lys Polymorphism rs4422842 - CACNA1B Q00975 VAR_048742 p.Glu1436Lys Polymorphism rs12377346 - CACNA1B Q00975 VAR_048743 p.Glu1500Lys Polymorphism rs12377346 - CACNA1B Q00975 VAR_061100 p.Ala862Ser Polymorphism rs7873074 - CACNA1B Q00975 VAR_061101 p.Thr996Ala Polymorphism rs11137342 - CACNA1C Q13936 VAR_001495 p.Ala752Thr Polymorphism - - CACNA1C Q13936 VAR_001496 p.Ala2169Thr Polymorphism - - CACNA1C Q13936 VAR_026741 p.Gly402Ser Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_026742 p.Gly406Arg Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_044039 p.Ala39Val Disease - Brugada syndrome type 3 (BRGDA3) [MIM:611875] CACNA1C Q13936 VAR_044040 p.Gly490Arg Disease - Brugada syndrome type 3 (BRGDA3) [MIM:611875] CACNA1C Q13936 VAR_045987 p.Gln84Arg Polymorphism rs1051345 - CACNA1C Q13936 VAR_045988 p.Ile391Leu Polymorphism rs1051356 - CACNA1C Q13936 VAR_059223 p.Pro1868Leu Polymorphism rs10848683 - CACNA1C Q13936 VAR_059224 p.Met1869Val Polymorphism rs10774053 - CACNA1C Q13936 VAR_061102 p.Lys1893Arg Polymorphism rs10774054 - CACNA1C Q13936 VAR_064700 p.Ser878Arg Unclassified - - CACNA1D Q01668 VAR_061103 p.Asp2097Asn Polymorphism rs41276455 - CACNA1E Q15878 VAR_031912 p.Asp859Glu Polymorphism rs35737760 - CACNA1E Q15878 VAR_046996 p.Ala1955Thr Polymorphism rs704326 - CACNA1F O60840 VAR_001504 p.Gly369Asp Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_001505 p.Arg519Gln Disease rs34162630 Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_001506 p.Arg1060Trp Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_001507 p.Leu1375His Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_029376 p.Asn746Thr Polymorphism - - CACNA1F O60840 VAR_030807 p.Pro14Leu Polymorphism rs6520408 - CACNA1F O60840 VAR_030808 p.Cys74Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030809 p.Gly150Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030810 p.Ser229Pro Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030811 p.Gly261Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030812 p.Val635Ile Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030813 p.Gly674Asp Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030814 p.Phe753Cys Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030815 p.Ile756Thr Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030816 p.Leu860Pro Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030817 p.Ala928Asp Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030818 p.Gly1018Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030819 p.Leu1079Pro Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030820 p.Cys1499Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030821 p.Pro1500Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030822 p.Leu1508Pro Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_031822 p.Ala1270Thr Polymorphism rs34308720 - CACNA1F O60840 VAR_054818 p.Arg1930His Polymorphism rs33910054 - CACNA1F O60840 VAR_055662 p.Ala1259Thr Polymorphism rs34308720 - CACNA1H O95180 VAR_033698 p.Glu1974Gly Polymorphism rs3751886 - CACNA1H O95180 VAR_045935 p.Phe161Leu Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045936 p.Glu282Lys Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045937 p.Met313Val Polymorphism rs36117280 - CACNA1H O95180 VAR_045938 p.Cys456Ser Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045939 p.Gly499Ser Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045940 p.Pro640Leu Polymorphism - - CACNA1H O95180 VAR_045941 p.Pro648Leu Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045942 p.Val664Ala Polymorphism rs4984636 - CACNA1H O95180 VAR_045943 p.Pro684Ser Polymorphism - - CACNA1H O95180 VAR_045944 p.Arg744Gln Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045945 p.Ala748Val Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045946 p.Gly773Asp Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045947 p.Gly784Ser Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045948 p.Arg788Cys Polymorphism rs3751664 - CACNA1H O95180 VAR_045949 p.Val812Met Polymorphism rs28365119 - CACNA1H O95180 VAR_045950 p.Val831Met Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045951 p.Gly848Ser Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045952 p.Asp1463Asn Disease - Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045953 p.Arg2060His Polymorphism rs1054644 - CACNA1H O95180 VAR_045954 p.Arg2077His Polymorphism rs1054645 - CACNA1H O95180 VAR_045955 p.Pro2173Ser Polymorphism - - CACNA1H O95180 VAR_061104 p.Arg1871Gln Polymorphism rs58124832 - CACNA1I Q9P0X4 VAR_013883 p.Ile1040Val Polymorphism rs136853 - CACNA1I Q9P0X4 VAR_013884 p.Gly1782Ala Polymorphism rs2294369 - CACNA1I Q9P0X4 VAR_020050 p.Gly1782Arg Polymorphism rs2294369 - CACNA1I Q9P0X4 VAR_048745 p.Thr1513Met Polymorphism rs8141262 - CACNA1S Q13698 VAR_001498 p.Leu458His Polymorphism rs12742169 - CACNA1S Q13698 VAR_001499 p.Arg528His Disease - Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_001500 p.Arg1086His Disease rs1800559 Malignant hyperthermia 5 (MHS5) [MIM:601887] CACNA1S Q13698 VAR_001501 p.Arg1239Gly Disease rs28930069 Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_001502 p.Arg1239His Disease rs28930068 Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_001503 p.Arg1539Cys Polymorphism rs3850625 - CACNA1S Q13698 VAR_046970 p.Ala69Gly Polymorphism rs12406479 - CACNA1S Q13698 VAR_046971 p.Arg1658His Polymorphism rs13374149 - CACNA1S Q13698 VAR_046972 p.Leu1800Ser Polymorphism rs12139527 - CACNA1S Q13698 VAR_046973 p.Glu1840Asp Polymorphism rs1042379 - CACNA1S Q13698 VAR_054953 p.Arg528Gly Disease - Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_054954 p.Arg900Ser Disease - Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] CACNA2D1 P54289 VAR_035047 p.Asp1057Ala Polymorphism rs35131433 - CACNA2D1 P54289 VAR_053960 p.Glu1019Asp Polymorphism rs9886043 - CACNA2D2 Q9NY47 VAR_035048 p.Ala138Val Polymorphism rs35497591 - CACNA2D2 Q9NY47 VAR_057782 p.Glu334Lys Polymorphism rs743855 - CACNA2D4 Q7Z3S7 VAR_035049 p.Ile327Val Polymorphism rs10735005 - CACNA2D4 Q7Z3S7 VAR_035050 p.Arg863His Polymorphism rs36077411 - CACNA2D4 Q7Z3S7 VAR_035051 p.Thr869Met Polymorphism rs35331095 - CACNB1 Q02641 VAR_036349 p.Pro339Leu Unclassified - A colorectal cancer sample CACNB2 Q08289 VAR_036350 p.Ala99Gly Unclassified - A colorectal cancer sample CACNB2 Q08289 VAR_044041 p.Ser535Leu Disease - Brugada syndrome type 4 (BRGDA4) [MIM:611876] CACNB3 P54284 VAR_024384 p.Arg423His Polymorphism rs2229954 - CACNB4 O00305 VAR_013669 p.Cys104Phe Disease rs1805031 Episodic ataxia type 5 (EA5) [MIM:613855] CACNG1 Q06432 VAR_012063 p.Gly196Ser Polymorphism rs1799938 - CACNG6 Q9BXT2 VAR_061540 p.Cys252Ser Polymorphism rs12980121 - CADM1 Q9BY67 VAR_061309 p.Asp285Glu Polymorphism rs45525440 - CADM3 Q8N126 VAR_059383 p.Arg162Trp Polymorphism rs3026987 - CADM4 Q8NFZ8 VAR_032906 p.Thr225Ala Polymorphism rs34246023 - CAD P27708 VAR_035897 p.Arg177Gln Unclassified - A colorectal cancer sample CAD P27708 VAR_035898 p.Tyr735Cys Unclassified - A colorectal cancer sample CADPS2 Q86UW7 VAR_024786 p.Ala298Thr Polymorphism rs17144625 - CAGE1 Q8TC20 VAR_031200 p.Thr169Ile Polymorphism rs10223538 - CAGE1 Q8TC20 VAR_031201 p.Glu282Ala Polymorphism rs2876098 - CALCA P01258 VAR_014592 p.Asn57Asp Polymorphism rs5239 - CALCA P01258 VAR_014593 p.Ser76Arg Polymorphism rs5241 - CALCA P01258 VAR_025271 p.Gly2Arg Polymorphism rs34587547 - CALCA P01258 VAR_025272 p.Glu67Lys Polymorphism rs34164367 - CALCA P01258 VAR_025273 p.Ser123Thr Polymorphism rs34414857 - CALCA P01258 VAR_025274 p.Gln138Pro Polymorphism rs13306224 - CALCA P06881 VAR_048584 p.Asn57Asp Polymorphism rs5239 - CALCOCO1 Q9P1Z2 VAR_036881 p.Arg393Lys Polymorphism rs3741659 - CALCOCO2 Q13137 VAR_037489 p.Gly140Glu Polymorphism rs550510 - CALCOCO2 Q13137 VAR_037490 p.Gly227Arg Polymorphism rs2303016 - CALCOCO2 Q13137 VAR_037491 p.Val248Ala Polymorphism rs2303015 - CALCOCO2 Q13137 VAR_037492 p.Thr273Ala Polymorphism rs17849804 - CALCOCO2 Q13137 VAR_037493 p.Pro389Ala Polymorphism rs10278 - CALCRL Q16602 VAR_049453 p.Phe16Leu Polymorphism rs13391909 - CALCRL Q16602 VAR_049454 p.Arg274Ile Polymorphism rs34010553 - CALCRL Q16602 VAR_054822 p.Asn8Tyr Polymorphism rs698577 - CALCR P30988 VAR_003580 p.Pro463Leu Polymorphism rs1801197 - CALD1 Q05682 VAR_065254 p.His397Arg Polymorphism rs6973420 - CALHM1 Q8IU99 VAR_023095 p.Leu86Pro Polymorphism rs2986017 - CALHM2 Q9HA72 VAR_033924 p.Val194Met Polymorphism rs2232662 - CALHM2 Q9HA72 VAR_053084 p.Val136Gly Polymorphism rs2232660 - CALM1 P62158 VAR_048585 p.Met73Thr Polymorphism rs41389749 - CALML4 Q96GE6 VAR_048586 p.Arg28Cys Polymorphism rs3803381 - CALML4 Q96GE6 VAR_048587 p.Thr154Lys Polymorphism rs2280217 - CALML5 Q9NZT1 VAR_047545 p.Ser58Gly Polymorphism rs11546426 - CALML5 Q9NZT1 VAR_047546 p.Lys74Arg Polymorphism rs10904516 - CALML6 Q8TD86 VAR_048588 p.Trp60Arg Polymorphism rs28581776 - CALR3 Q96L12 VAR_027944 p.Leu8Phe Polymorphism rs17851207 - CALR3 Q96L12 VAR_027945 p.Asp248Gly Polymorphism rs10411092 - CALR3 Q96L12 VAR_027946 p.Val274Ile Polymorphism rs12459238 - CALR3 Q96L12 VAR_048589 p.Asp284Asn Polymorphism rs10404156 - CALR3 Q96L12 VAR_065476 p.Lys82Arg Disease - Familial hypertrophic cardiomyopathy type 19 (CMH19) [MIM:613875] CALU O43852 VAR_022051 p.Arg4Gln Polymorphism rs2290228 - CAMK1D Q8IU85 VAR_040599 p.Ile66Met Polymorphism rs34194224 - CAMK1G Q96NX5 VAR_020530 p.Val329Ile Polymorphism rs11119315 - CAMK1G Q96NX5 VAR_040600 p.Glu259Gln Polymorphism rs35561962 - CAMK1G Q96NX5 VAR_040601 p.Ala443Thr Unclassified - A breast infiltrating ductal carcinoma sample CAMK1 Q14012 VAR_040596 p.Pro217Ser Unclassified - A metastatic melanoma sample CAMK1 Q14012 VAR_040597 p.Glu361Lys Polymorphism rs56033923 - CAMK2B Q13554 VAR_045581 p.Pro489Leu Unclassified - A colorectal adenocarcinoma sample CAMK2B Q13554 VAR_045582 p.Glu510Lys Polymorphism - - CAMK2D Q13557 VAR_028196 p.Gln463Glu Polymorphism rs1053668 - CAMK2D Q13557 VAR_040602 p.Asp167Glu Polymorphism rs35367671 - CAMK2D Q13557 VAR_040603 p.Thr493Ile Polymorphism rs35765784 - CAMK2G Q13555 VAR_042430 p.Ser36Pro Polymorphism rs17853266 - CAMK4 Q16566 VAR_040604 p.Glu150Gly Unclassified - A lung adenocarcinoma sample CAMK4 Q16566 VAR_040605 p.Asp178Asn Polymorphism rs35548075 - CAMK4 Q16566 VAR_040606 p.Gln465Arg Polymorphism rs56360861 - CAMK4 Q16566 VAR_040607 p.Ile469Met Unclassified - A lung large cell carcinoma sample CAMKK1 Q8N5S9 VAR_020531 p.Glu375Gly Polymorphism rs7214723 - CAMKK2 Q96RR4 VAR_020532 p.Thr85Ser Polymorphism rs3817190 - CAMKK2 Q96RR4 VAR_020533 p.Arg363Cys Polymorphism rs1132780 - CAMKK2 Q96RR4 VAR_032788 p.Ser10Asn Polymorphism rs28360477 - CAMKK2 Q96RR4 VAR_040610 p.Cys123Tyr Polymorphism rs35403710 - CAMKK2 Q96RR4 VAR_040611 p.Pro127Leu Unclassified - A lung neuroendocrine carcinoma sample CAMKK2 Q96RR4 VAR_040612 p.Ala182Thr Unclassified - A colorectal adenocarcinoma sample CAMKK2 Q96RR4 VAR_040613 p.Arg492His Polymorphism rs34129994 - CAMKV Q8NCB2 VAR_027539 p.Tyr491Cys Polymorphism rs17849325 - CAMKV Q8NCB2 VAR_041337 p.Arg40Trp Unclassified - A colorectal adenocarcinoma sample CAMKV Q8NCB2 VAR_041338 p.Gly60Ser Unclassified - An ovarian serous carcinoma sample CAMKV Q8NCB2 VAR_041339 p.Arg274Trp Unclassified - A colorectal adenocarcinoma sample CAMKV Q8NCB2 VAR_041340 p.Glu279Asp Polymorphism rs56071455 - CAMKV Q8NCB2 VAR_041341 p.Pro472Leu Polymorphism rs56307047 - CAMLG P49069 VAR_024297 p.Val78Ile Polymorphism rs12657663 - CAMLG P49069 VAR_050710 p.Gly100Ser Polymorphism rs11552197 - CAMSAP1 Q5T5Y3 VAR_038398 p.Ala476Val Polymorphism rs35639321 - CAMSAP2 Q08AD1 VAR_038399 p.Ile361Leu Unclassified - A colorectal cancer sample CAMSAP2 Q08AD1 VAR_038400 p.Pro958Leu Polymorphism rs3753952 - CAMSAP2 Q08AD1 VAR_038401 p.Arg1028Pro Polymorphism rs6674599 - CAMSAP2 Q08AD1 VAR_057796 p.Pro969Leu Polymorphism rs3753952 - CAMSAP2 Q08AD1 VAR_057797 p.Pro1039Arg Polymorphism rs6674599 - CAMSAP3 Q9P1Y5 VAR_053991 p.Pro335Ser Polymorphism rs3745358 - CAMTA1 Q9Y6Y1 VAR_047824 p.Asn1177Lys Polymorphism rs41278952 - CAMTA1 Q9Y6Y1 VAR_047825 p.Asn1218Thr Polymorphism rs41278954 - CAMTA1 Q9Y6Y1 VAR_047826 p.Thr1336Ile Polymorphism - - CAMTA2 O94983 VAR_026417 p.Ala267Pro Polymorphism rs238234 - CAMTA2 O94983 VAR_026418 p.Ser903Pro Polymorphism rs16942615 - CAND1 Q86VP6 VAR_025327 p.Ala952Val Polymorphism rs17854618 - CAND1 Q86VP6 VAR_054041 p.Val803Ala Polymorphism rs12580996 - CAND2 O75155 VAR_055023 p.Gln408Arg Polymorphism rs2305398 - CAND2 O75155 VAR_055024 p.Pro476Leu Polymorphism rs2305397 - CAND2 O75155 VAR_055025 p.Ser533Pro Polymorphism rs3732675 - CAND2 O75155 VAR_055026 p.His655Arg Polymorphism rs9838943 - CAND2 O75155 VAR_055027 p.Leu845Phe Polymorphism rs17037287 - CAND2 O75155 VAR_055028 p.His858Pro Polymorphism rs3732678 - CAND2 O75155 VAR_055029 p.Val990Ile Polymorphism rs3817121 - CAND2 O75155 VAR_055030 p.Ala1225Thr Polymorphism rs12629133 - CANT1 Q8WVQ1 VAR_062980 p.Pro299Leu Disease - Desbuquois dysplasia (DBQD) [MIM:251450] CANT1 Q8WVQ1 VAR_062981 p.Arg300Cys Disease - Desbuquois dysplasia (DBQD) [MIM:251450] CANT1 Q8WVQ1 VAR_062982 p.Arg300His Disease - Desbuquois dysplasia (DBQD) [MIM:251450] CAP1 Q01518 VAR_028419 p.Cys229Gly Polymorphism rs11207440 - CAP1 Q01518 VAR_028420 p.Cys236Gly Polymorphism rs6665926 - CAP1 Q01518 VAR_028421 p.Ile245Ser Polymorphism rs6665933 - CAP1 Q01518 VAR_028422 p.Cys247Gly Polymorphism rs6665936 - CAP1 Q01518 VAR_028423 p.Tyr249Asp Polymorphism rs6665937 - CAP1 Q01518 VAR_028424 p.Ser256Ala Polymorphism rs6665944 - CAP2 P40123 VAR_033717 p.Thr311Ala Polymorphism rs34620829 - CAP2 P40123 VAR_033718 p.Tyr316Cys Polymorphism rs34206659 - CAPG P40121 VAR_047776 p.Val41Ile Polymorphism rs2229668 - CAPG P40121 VAR_047777 p.Arg198Trp Polymorphism rs11539103 - CAPG P40121 VAR_047778 p.His335Arg Polymorphism rs6886 - CAPN10 Q9HC96 VAR_014437 p.Pro200Thr Polymorphism rs3792268 - CAPN10 Q9HC96 VAR_014438 p.Arg202His Polymorphism - - CAPN10 Q9HC96 VAR_014439 p.Ala341Val Polymorphism - - CAPN10 Q9HC96 VAR_014440 p.Thr504Ala Polymorphism rs7607759 - CAPN10 Q9HC96 VAR_014441 p.Ala529Ser Polymorphism - - CAPN10 Q9HC96 VAR_014442 p.Ser613Asn Polymorphism - - CAPN10 Q9HC96 VAR_014443 p.Ile666Val Polymorphism rs2975766 - CAPN10 Q9HC96 VAR_036049 p.Glu276Gly Unclassified - A colorectal cancer sample CAPN11 Q9UMQ6 VAR_024587 p.Ser728Asn Polymorphism rs7761137 - CAPN11 Q9UMQ6 VAR_033713 p.Val266Met Polymorphism rs6938938 - CAPN11 Q9UMQ6 VAR_033714 p.Val441Ala Polymorphism rs16871612 - CAPN11 Q9UMQ6 VAR_033715 p.Ile521Val Polymorphism rs34710081 - CAPN11 Q9UMQ6 VAR_033716 p.Ser544Arg Polymorphism rs35527493 - CAPN12 Q6ZSI9 VAR_051516 p.Cys287Arg Polymorphism rs12983010 - CAPN13 Q6MZZ7 VAR_028964 p.His249Tyr Polymorphism rs17010210 - CAPN13 Q6MZZ7 VAR_028965 p.Ala280Thr Polymorphism rs508405 - CAPN13 Q6MZZ7 VAR_028966 p.Ile596Thr Polymorphism rs2276568 - CAPN1 P07384 VAR_021085 p.Thr103Ala Polymorphism rs17885718 - CAPN1 P07384 VAR_021086 p.Arg433Pro Polymorphism rs10895991 - CAPN1 P07384 VAR_021087 p.Gly492Arg Polymorphism rs17883283 - CAPN1 P07384 VAR_021088 p.Val676Ile Polymorphism rs17884773 - CAPN2 P17655 VAR_014435 p.Asp22Glu Polymorphism rs25655 - CAPN2 P17655 VAR_014436 p.Lys568Gln Polymorphism rs17599 - CAPN2 P17655 VAR_021404 p.Ser68Gly Polymorphism rs2230083 - CAPN2 P17655 VAR_021405 p.Lys476Arg Polymorphism rs9804140 - CAPN2 P17655 VAR_021406 p.Glu521Gln Polymorphism rs28370127 - CAPN2 P17655 VAR_021407 p.Lys677Gln Polymorphism rs2230082 - CAPN3 P20807 VAR_001363 p.Leu182Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_001365 p.Gly234Glu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_001366 p.Val354Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_001367 p.Arg490Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_001368 p.Arg572Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_001369 p.Ser744Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_001370 p.Arg769Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009548 p.Val4Ile Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009549 p.Pro26Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009550 p.Asp77Asn Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009551 p.Ser86Phe Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009553 p.Glu107Lys Polymorphism rs1801505 - CAPN3 P20807 VAR_009554 p.Arg118Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009555 p.Cys137Arg Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009556 p.Ile162Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009557 p.Pro183Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009558 p.Thr184Met Disease rs35889956 Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009559 p.Leu189Pro Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009560 p.Gly214Ser Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009561 p.Ser215Pro Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009563 p.Glu217Lys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009564 p.Gly222Arg Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009565 p.Glu226Lys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009566 p.Thr232Ile Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009567 p.Ala236Thr Polymorphism rs1801449 - CAPN3 P20807 VAR_009569 p.Pro319Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009570 p.His334Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009571 p.Tyr336Asn Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009572 p.Trp360Cys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009573 p.Arg437Cys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009574 p.Arg440Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009575 p.Gly441Asp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009576 p.Gly445Arg Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009577 p.Arg448Cys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009578 p.Arg448Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009579 p.Arg448His Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009580 p.Ser479Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009581 p.Gln486Glu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009582 p.Arg489Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009583 p.Arg489Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009584 p.Arg490Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009585 p.Arg493Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009586 p.Gly496Arg Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009587 p.Ile502Thr Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009588 p.Arg541Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009589 p.Gly567Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009590 p.Arg572Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009591 p.Ser606Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009592 p.Gln638Pro Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009593 p.Arg698Pro Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009594 p.Ala702Val Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009595 p.Asp705Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009596 p.Asp705His Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009597 p.Phe731Ser Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009598 p.Arg748Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009599 p.His774Asp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_009600 p.Ala798Glu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] CAPN3 P20807 VAR_015389 p.Ala160Gly Polymorphism rs17592 - CAPN3 P20807 VAR_022272 p.Gly21Glu Polymorphism rs28364364 - CAPN3 P20807 VAR_047691 p.Glu622Ala Polymorphism rs11557723 - CAPN6 Q9Y6Q1 VAR_021084 p.Val277Leu Polymorphism rs12013711 - CAPN6 Q9Y6Q1 VAR_036048 p.Gly358Arg Unclassified - A colorectal cancer sample CAPN6 Q9Y6Q1 VAR_051515 p.Thr518Ile Polymorphism rs12851517 - CAPN9 O14815 VAR_022188 p.Ala102Val Polymorphism rs12562749 - CAPN9 O14815 VAR_022189 p.Ser122Arg Polymorphism rs28359608 - CAPN9 O14815 VAR_022190 p.Asp164Asn Polymorphism rs28359632 - CAPN9 O14815 VAR_022191 p.Ile234Thr Polymorphism rs28359644 - CAPN9 O14815 VAR_022192 p.Ala239Thr Polymorphism rs28359647 - CAPN9 O14815 VAR_022193 p.Arg277Trp Polymorphism rs28359655 - CAPN9 O14815 VAR_022194 p.Lys322Gln Polymorphism rs1933631 - CAPN9 O14815 VAR_022195 p.His327Gln Polymorphism rs28359684 - CAPN9 O14815 VAR_022196 p.Glu342Lys Polymorphism rs16852652 - CAPN9 O14815 VAR_022197 p.Arg458Trp Polymorphism rs28359688 - CAPN9 O14815 VAR_022198 p.Arg522Trp Polymorphism rs12731961 - CAPN9 O14815 VAR_022199 p.Met611Ile Polymorphism rs16852683 - CAPNS1 P04632 VAR_021089 p.Met224Val Polymorphism rs17878750 - CAPRIN1 Q14444 VAR_042425 p.Ala263Asp Polymorphism rs1132973 - CAPRIN1 Q14444 VAR_042426 p.Gln588His Polymorphism rs12282627 - CAPRIN1 Q14444 VAR_042427 p.Arg616His Polymorphism rs11552285 - CAPRIN2 Q6IMN6 VAR_034939 p.Met519Val Polymorphism rs2304630 - CAPRIN2 Q6IMN6 VAR_048445 p.Pro114Ser Polymorphism rs17688567 - CAPRIN2 Q6IMN6 VAR_048446 p.Lys237Arg Polymorphism rs12146709 - CAPRIN2 Q6IMN6 VAR_048447 p.Ser655Leu Polymorphism rs2304628 - CAPS2 Q9BXY5 VAR_061085 p.Leu125Phe Polymorphism rs10879901 - CAPSL Q8WWF8 VAR_029631 p.Arg85Gln Polymorphism rs1445898 - CAPSL Q8WWF8 VAR_029632 p.Met201Val Polymorphism rs1345826 - CAPS Q13938 VAR_048638 p.Arg39Gly Polymorphism rs7249419 - CARD10 Q9BWT7 VAR_028116 p.Arg289Gln Polymorphism rs9610775 - CARD11 Q9BXL7 VAR_028117 p.Thr670Met Polymorphism rs3735134 - CARD11 Q9BXL7 VAR_028118 p.Ser694Leu Polymorphism rs3735133 - CARD14 Q9BXL6 VAR_022043 p.Arg883His Polymorphism rs2289541 - CARD14 Q9BXL6 VAR_024401 p.Arg547Ser Polymorphism rs2066964 - CARD14 Q9BXL6 VAR_048608 p.Val585Ile Polymorphism rs34367357 - CARD14 Q9BXL6 VAR_059196 p.Arg820Trp Polymorphism rs11652075 - CARD14 Q9BXL6 VAR_061080 p.Arg962Gln Polymorphism rs34850974 - CARD16 Q5EG05 VAR_046279 p.Arg33Ser Polymorphism rs35966314 - CARD16 Q5EG05 VAR_046280 p.Gln37Lys Polymorphism rs1042744 - CARD16 Q5EG05 VAR_046281 p.Ala56Asp Polymorphism rs34534919 - CARD16 Q5EG05 VAR_046282 p.Asn167Ile Polymorphism rs542571 - CARD6 Q9BX69 VAR_046689 p.Ser86Leu Polymorphism rs10512747 - CARD6 Q9BX69 VAR_046690 p.Arg93Lys Polymorphism rs7715491 - CARD6 Q9BX69 VAR_046691 p.Met395Lys Polymorphism rs3812030 - CARD6 Q9BX69 VAR_046692 p.Asp426Val Polymorphism rs3812031 - CARD6 Q9BX69 VAR_046693 p.Ala575Asp Polymorphism rs36085996 - CARD6 Q9BX69 VAR_046694 p.Ile576Val Polymorphism rs323562 - CARD8 Q9Y2G2 VAR_048606 p.Ile68Val Polymorphism rs11881179 - CARD8 Q9Y2G2 VAR_061079 p.Glu99Ala Polymorphism rs59878320 - CARD9 Q9H257 VAR_048607 p.Ser12Asn Polymorphism rs4077515 - CARKD Q8IW45 VAR_043564 p.Lys140Glu Polymorphism rs3742191 - CARKD Q8IW45 VAR_043565 p.Val149Ile Polymorphism rs3742192 - CARKD Q8IW45 VAR_043566 p.Pro152Thr Polymorphism rs1044112 - CARNS1 A5YM72 VAR_042625 p.Pro14Thr Polymorphism rs868167 - CARNS1 A5YM72 VAR_060320 p.Met498Leu Polymorphism rs17853668 - CARS2 Q9HA77 VAR_034523 p.Glu440Lys Polymorphism rs965189 - CARS2 Q9HA77 VAR_034524 p.Gln555Pro Polymorphism rs1043886 - CARTPT Q16568 VAR_012199 p.Leu61Phe Unclassified - - CARTPT Q16568 VAR_012200 p.Ser66Thr Polymorphism - - CARTPT Q16568 VAR_053022 p.Leu113Met Polymorphism rs12517689 - CASC1 Q6TDU7 VAR_043008 p.Arg33Ser Polymorphism rs10842496 - CASC1 Q6TDU7 VAR_062232 p.Ala633Glu Polymorphism rs859146 - CASC2 Q6XLA1 VAR_039469 p.Pro8Ser Unclassified - Some patients with endometrial cancer CASC5 Q8NG31 VAR_026428 p.Arg43Thr Polymorphism rs7177192 - CASC5 Q8NG31 VAR_026429 p.Thr70Ala Polymorphism rs16970874 - CASC5 Q8NG31 VAR_026430 p.Thr113Ala Polymorphism rs12911738 - CASC5 Q8NG31 VAR_026431 p.Ala486Ser Polymorphism rs2412541 - CASC5 Q8NG31 VAR_026432 p.Arg936Gly Polymorphism rs8040502 - CASC5 Q8NG31 VAR_026433 p.Lys1285Glu Polymorphism rs17747633 - CASC5 Q8NG31 VAR_026434 p.Thr1473Ala Polymorphism rs16970911 - CASC5 Q8NG31 VAR_054342 p.Met598Thr Polymorphism rs11858113 - CASC5 Q8NG31 VAR_061568 p.Met177Val Polymorphism rs35146555 - CASC5 Q8NG31 VAR_061569 p.Leu1190Val Polymorphism rs58614880 - CASC5 Q8NG31 VAR_061570 p.Cys2338Tyr Polymorphism rs61164860 - CASD1 Q96PB1 VAR_035383 p.Arg386Ser Polymorphism rs17855797 - CASKIN2 Q8WXE0 VAR_060244 p.Glu891Gly Polymorphism rs7503373 - CASK O14936 VAR_041956 p.Gly96Val Unclassified - A lung large cell carcinoma sample CASK O14936 VAR_058719 p.Arg28Leu Disease - FG syndrome type 4 (FGS4) [MIM:300422] CASK O14936 VAR_062996 p.Tyr268His Disease - Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK O14936 VAR_062997 p.Pro396Ser Disease - Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK O14936 VAR_062998 p.Asp710Gly Disease - Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASP10 Q92851 VAR_014071 p.Leu285Phe Disease rs17860403 Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909] CASP10 Q92851 VAR_014072 p.Val410Ile Polymorphism rs13010627 - CASP10 Q92851 VAR_037428 p.Met147Thr Disease - Gastric cancer (GASC) [MIM:613659] CASP10 Q92851 VAR_037429 p.Ile406Leu Disease - Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909] CASP10 Q92851 VAR_037430 p.Ala414Val Disease rs28936699 Familial non-Hodgkin lymphoma (NHL) [MIM:605027] CASP10 Q92851 VAR_037431 p.Tyr446Cys Polymorphism rs17860405 - CASP10 Q92851 VAR_055361 p.Ser239Cys Polymorphism rs41473647 - CASP10 Q92851 VAR_055362 p.Pro444Ser Polymorphism rs41513147 - CASP10 Q92851 VAR_065233 p.Lys14Thr Unclassified - - CASP10 Q92851 VAR_065234 p.Arg21Cys Unclassified - - CASP10 Q92851 VAR_065235 p.Leu285Pro Unclassified - - CASP1 P29466 VAR_048615 p.Arg15His Polymorphism rs1042743 - CASP2 P42575 VAR_016334 p.Val172Leu Polymorphism rs4647297 - CASP2 P42575 VAR_016335 p.Pro178Ala Polymorphism rs4647298 - CASP2 P42575 VAR_016336 p.Arg441Gly Polymorphism rs4647338 - CASP2 P42575 VAR_055621 p.Ala105Gly Polymorphism rs4647298 - CASP3 P42574 VAR_001401 p.Glu190Asp Polymorphism rs1049210 - CASP3 P42574 VAR_048616 p.His22Arg Polymorphism rs35578277 - CASP4 P49662 VAR_061081 p.Asp47Asn Polymorphism rs56226603 - CASP4 P49662 VAR_061082 p.Glu284Asp Polymorphism rs55901059 - CASP5 P51878 VAR_024403 p.Phe29Leu Polymorphism rs3181320 - CASP5 P51878 VAR_024404 p.Arg168His Polymorphism rs3181179 - CASP5 P51878 VAR_024405 p.Val217Leu Polymorphism rs3181326 - CASP5 P51878 VAR_047216 p.Lys19Asn Polymorphism rs45483102 - CASP5 P51878 VAR_047217 p.Leu26Trp Polymorphism rs1792778 - CASP5 P51878 VAR_047218 p.Thr106Ala Polymorphism rs507879 - CASP5 P51878 VAR_047219 p.Leu334Val Polymorphism rs523104 - CASP5 P51878 VAR_047220 p.Glu353Lys Polymorphism rs45619739 - CASP5 P51878 VAR_054480 p.Leu75Arg Polymorphism - - CASP5 P51878 VAR_054481 p.Arg298His Polymorphism - - CASP5 P51878 VAR_054482 p.Glu382Gln Polymorphism rs45458695 - CASP6 P55212 VAR_016130 p.Ala109Thr Polymorphism rs5030674 - CASP6 P55212 VAR_020126 p.Thr182Ser Polymorphism rs5030593 - CASP6 P55212 VAR_029242 p.Glu35Lys Polymorphism rs11574697 - CASP7 P55210 VAR_048617 p.Asp4Glu Polymorphism rs11593766 - CASP7 P55210 VAR_048618 p.Asp255Glu Polymorphism rs2227310 - CASP8AP2 Q9UKL3 VAR_050700 p.Pro1659Ser Polymorphism rs3799896 - CASP8 Q14790 VAR_014204 p.Arg248Trp Disease rs17860424 Caspase-8 deficiency (CASP8D) [MIM:607271] CASP8 Q14790 VAR_020127 p.Asp285His Polymorphism rs1045485 - CASP8 Q14790 VAR_025816 p.Ser219Thr Polymorphism rs35976359 - CASP9 P55211 VAR_015415 p.Ala28Val Polymorphism rs1052571 - CASP9 P55211 VAR_015416 p.Ser99Leu Polymorphism rs4646008 - CASP9 P55211 VAR_015417 p.Thr102Ile Polymorphism rs2308941 - CASP9 P55211 VAR_015418 p.Leu106Val Polymorphism rs2308938 - CASP9 P55211 VAR_015419 p.Glu114Asp Polymorphism rs2020897 - CASP9 P55211 VAR_015420 p.Arg173His Polymorphism rs2308950 - CASP9 P55211 VAR_015421 p.Gln221Arg Polymorphism rs1052576 - CASP9 P55211 VAR_016131 p.Gly176Arg Polymorphism rs2308949 - CASP9 P55211 VAR_016132 p.Arg192Cys Polymorphism rs2308939 - CASP9 P55211 VAR_022053 p.Ile185Met Polymorphism rs9282624 - CASP9 P55211 VAR_059198 p.Phe136Leu Polymorphism rs1820204 - CASQ1 P31415 VAR_053021 p.Tyr140Phe Polymorphism rs34489853 - CASQ2 O14958 VAR_016075 p.Asp307His Disease - Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938] CASQ2 O14958 VAR_023692 p.Thr66Ala Polymorphism rs4074536 - CASQ2 O14958 VAR_023693 p.Val76Met Polymorphism rs10801999 - CASQ2 O14958 VAR_044118 p.Leu167His Disease - Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938] CASQ2 O14958 VAR_055234 p.Arg33Gln Disease - Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938] CASR P41180 VAR_003585 p.Pro39Ala Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003586 p.Arg62Met Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003586 p.Arg62Met Disease - Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] CASR P41180 VAR_003587 p.Arg66Cys Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003588 p.Ala116Thr Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_003589 p.Glu127Ala Unclassified - - CASR P41180 VAR_003590 p.Thr138Met Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003591 p.Gly143Glu Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003592 p.Leu174Arg Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003593 p.Arg185Gln Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003594 p.Arg227Leu Disease rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] CASR P41180 VAR_003595 p.Arg227Gln Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003596 p.Glu297Lys Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003596 p.Glu297Lys Disease - Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] CASR P41180 VAR_003597 p.Cys582Tyr Disease - Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] CASR P41180 VAR_003598 p.Gln681His Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_003599 p.Arg795Trp Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_003600 p.Phe806Ser Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_003601 p.Cys851Ser Polymorphism - - CASR P41180 VAR_012649 p.Gly557Glu Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_014450 p.Ala986Ser Polymorphism rs1801725 - CASR P41180 VAR_014451 p.Gln1011Glu Polymorphism rs1801726 - CASR P41180 VAR_015414 p.Leu616Val Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_020220 p.Pro951Thr Polymorphism rs4987051 - CASR P41180 VAR_020221 p.Arg990Gly Polymorphism rs1042636 - CASR P41180 VAR_021019 p.Glu767Lys Unclassified - - CASR P41180 VAR_058046 p.Leu11Ser Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_058047 p.Leu13Pro Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_058048 p.Thr14Ala Unclassified - - CASR P41180 VAR_058049 p.Gly21Arg Unclassified - - CASR P41180 VAR_058050 p.Lys47Asn Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058051 p.Asn118Lys Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058052 p.Leu125Pro Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058053 p.Phe128Leu Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058054 p.Cys131Trp Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058055 p.Thr151Met Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058056 p.Ser171Asn Unclassified - - CASR P41180 VAR_058057 p.Phe180Cys Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_058058 p.Glu191Lys Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058059 p.Pro221Gln Unclassified - - CASR P41180 VAR_058060 p.Lys225Thr Unclassified - - CASR P41180 VAR_058061 p.Glu250Lys Unclassified - - CASR P41180 VAR_058062 p.Ser271Phe Unclassified - - CASR P41180 VAR_058063 p.Gly397Arg Unclassified - - CASR P41180 VAR_058064 p.Arg465Gln Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_058065 p.Gly509Arg Unclassified - - CASR P41180 VAR_058066 p.Gly553Arg Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_058067 p.Ile555Val Unclassified - - CASR P41180 VAR_058068 p.Cys562Tyr Unclassified - - CASR P41180 VAR_058069 p.Cys582Phe Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_058070 p.Glu604Lys Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058071 p.Phe612Ser Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058072 p.Gly623Asp Unclassified - - CASR P41180 VAR_058073 p.Gly670Glu Disease - Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] CASR P41180 VAR_058074 p.Gly670Arg Unclassified - - CASR P41180 VAR_058075 p.Leu727Gln Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058076 p.Val728Phe Unclassified - - CASR P41180 VAR_058077 p.Trp742Arg Unclassified - - CASR P41180 VAR_058078 p.Leu773Arg Unclassified - - CASR P41180 VAR_058079 p.Phe788Cys Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058080 p.Phe788Leu Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058081 p.Ser820Phe Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058082 p.Ala843Glu Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] CASR P41180 VAR_058083 p.Phe881Leu Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASR P41180 VAR_058084 p.Arg886Trp Unclassified - - CASR P41180 VAR_060206 p.Glu354Ala Disease - Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] CASR P41180 VAR_060207 p.Ile686Val Disease - Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] CASR P41180 VAR_060208 p.Arg898Gln Disease - Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] CASR P41180 VAR_060209 p.Ala988Gly Disease - Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] CASR P41180 VAR_060210 p.Ala988Val Disease - Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] CASR P41180 VAR_065198 p.Gln27Arg Unclassified - - CASR P41180 VAR_065199 p.Thr100Ile Unclassified - - CASR P41180 VAR_065201 p.Pro339Thr Unclassified - - CASR P41180 VAR_065202 p.Leu650Pro Unclassified - - CASR P41180 VAR_065203 p.Val689Met Unclassified - - CASR P41180 VAR_065494 p.Val697Met Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] CASS4 Q9NQ75 VAR_054084 p.Arg491Lys Polymorphism rs16979936 - CASS4 Q9NQ75 VAR_054085 p.Thr629Asn Polymorphism rs6069755 - CASS4 Q9NQ75 VAR_054086 p.Pro660Ser Polymorphism rs35031530 - CASS4 Q9NQ75 VAR_054087 p.Gln780His Polymorphism rs7272702 - CAST P20810 VAR_005298 p.Glu592Gly Polymorphism - - CAST P20810 VAR_022686 p.Cys408Ser Polymorphism rs754615 - CAST P20810 VAR_030741 p.Glu380Lys Polymorphism rs1643702 - CAST P20810 VAR_030742 p.Ala537Val Polymorphism rs4948 - CATSPER1 Q8NEC5 VAR_033304 p.Gly133Ser Polymorphism rs1203998 - CATSPER1 Q8NEC5 VAR_033305 p.Val652Ile Polymorphism rs3814747 - CATSPER1 Q8NEC5 VAR_033306 p.Thr730Pro Polymorphism rs34958219 - CATSPER2 Q96P56 VAR_033307 p.Glu8Gly Polymorphism rs2614835 - CATSPER2 Q96P56 VAR_033308 p.Val57Ile Polymorphism rs8042868 - CATSPER3 Q86XQ3 VAR_033309 p.Asn204Lys Polymorphism rs3896260 - CATSPER4 Q7RTX7 VAR_033310 p.Gln77Arg Polymorphism rs11247866 - CATSPER4 Q7RTX7 VAR_033311 p.Leu124Phe Polymorphism rs12138368 - CATSPER4 Q7RTX7 VAR_033312 p.Ile293Val Polymorphism rs17257155 - CATSPER4 Q7RTX7 VAR_033313 p.Asp436Asn Polymorphism rs6657616 - CATSPERB Q9H7T0 VAR_061634 p.Phe318Tyr Polymorphism rs57706558 - CATSPERD Q86XM0 VAR_032270 p.Thr504Ala Polymorphism rs17854252 - CATSPERD Q86XM0 VAR_032271 p.Thr743Ser Polymorphism rs2305925 - CATSPERD Q86XM0 VAR_061714 p.Met212Thr Polymorphism rs57680462 - CATSPERG Q6ZRH7 VAR_059631 p.Leu29Pro Polymorphism rs2302182 - CATSPERG Q6ZRH7 VAR_059632 p.Ser650Arg Polymorphism rs3745953 - CATSPERG Q6ZRH7 VAR_059633 p.Met1137Thr Polymorphism rs2286550 - CAV1 Q03135 VAR_015103 p.Pro132Leu Unclassified - Breast cancer CAV2 P51636 VAR_012071 p.Gln130Glu Polymorphism rs8940 - CAV3 P56539 VAR_001403 p.Pro105Leu Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] CAV3 P56539 VAR_001403 p.Pro105Leu Disease - Rippling muscle disease (RMD) [MIM:606072] CAV3 P56539 VAR_010742 p.Val57Met Disease - HyperCKmia (HYPCK) [MIM:123320] CAV3 P56539 VAR_010743 p.Cys72Trp Polymorphism - - CAV3 P56539 VAR_011512 p.Arg27Gln Disease - HyperCKmia (HYPCK) [MIM:123320] CAV3 P56539 VAR_011512 p.Arg27Gln Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] CAV3 P56539 VAR_011512 p.Arg27Gln Disease - Myopathy distal Tateyama type (MPDT) [MIM:614321] CAV3 P56539 VAR_011512 p.Arg27Gln Disease - Rippling muscle disease (RMD) [MIM:606072] CAV3 P56539 VAR_011513 p.Ala46Thr Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] CAV3 P56539 VAR_011513 p.Ala46Thr Disease - Rippling muscle disease (RMD) [MIM:606072] CAV3 P56539 VAR_011514 p.Ala46Val Disease - Rippling muscle disease (RMD) [MIM:606072] CAV3 P56539 VAR_015374 p.Asp28Glu Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] CAV3 P56539 VAR_015374 p.Asp28Glu Disease - Rippling muscle disease (RMD) [MIM:606072] CAV3 P56539 VAR_016207 p.Leu87Pro Disease rs28936685 Rippling muscle disease (RMD) [MIM:606072] CAV3 P56539 VAR_016208 p.Ala93Thr Disease rs28936686 Rippling muscle disease (RMD) [MIM:606072] CAV3 P56539 VAR_021016 p.Asn33Lys Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] CAV3 P56539 VAR_021016 p.Asn33Lys Disease - Myopathy distal Tateyama type (MPDT) [MIM:614321] CAV3 P56539 VAR_021017 p.Val44Glu Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] CAV3 P56539 VAR_021018 p.Thr64Pro Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] CAV3 P56539 VAR_026696 p.Ser61Arg Unclassified - - CAV3 P56539 VAR_029540 p.Pro29Leu Disease - HyperCKmia (HYPCK) [MIM:123320] CAV3 P56539 VAR_029541 p.Ser53Gly Disease - Rippling muscle disease (RMD) [MIM:606072] CAV3 P56539 VAR_029542 p.Gly56Ser Polymorphism - - CAV3 P56539 VAR_029543 p.Thr64Ser Disease - Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] CAV3 P56539 VAR_029545 p.Arg126His Polymorphism - - CAV3 P56539 VAR_043694 p.Val14Leu Disease - Sudden infant death syndrome (SIDS) [MIM:272120] CAV3 P56539 VAR_043695 p.Thr78Met Disease - Long QT syndrome type 9 (LQT9) [MIM:611818] CAV3 P56539 VAR_043695 p.Thr78Met Disease - Sudden infant death syndrome (SIDS) [MIM:272120] CAV3 P56539 VAR_043696 p.Leu79Arg Disease - Long QT syndrome type 9 (LQT9) [MIM:611818] CAV3 P56539 VAR_043696 p.Leu79Arg Disease - Sudden infant death syndrome (SIDS) [MIM:272120] CAV3 P56539 VAR_043697 p.Ala85Thr Disease - Long QT syndrome type 9 (LQT9) [MIM:611818] CAV3 P56539 VAR_043698 p.Phe97Cys Disease - Long QT syndrome type 9 (LQT9) [MIM:611818] CAV3 P56539 VAR_043699 p.Ser141Arg Disease - Long QT syndrome type 9 (LQT9) [MIM:611818] CBFA2T3 O75081 VAR_035374 p.Glu429Gly Polymorphism rs1053526 - CBFA2T3 O75081 VAR_035447 p.Arg306His Unclassified - A colorectal cancer sample CBFA2T3 O75081 VAR_035448 p.Glu518Lys Unclassified - A colorectal cancer sample CBFA2T3 O75081 VAR_035449 p.Ala534Val Unclassified - A colorectal cancer sample CBFB Q13951 VAR_036226 p.Pro100Ala Unclassified - A breast cancer sample CBLB Q13191 VAR_025303 p.Arg584Lys Polymorphism rs17853100 - CBLB Q13191 VAR_039241 p.Asn883Asp Polymorphism rs35835913 - CBLC Q9ULV8 VAR_018298 p.His405Tyr Polymorphism rs3208856 - CBL P22681 VAR_057211 p.Leu620Phe Polymorphism rs2227988 - CBL P22681 VAR_057212 p.Pro782Leu Polymorphism rs2229073 - CBL P22681 VAR_057213 p.Val904Ile Polymorphism rs17122769 - CBL P22681 VAR_064332 p.Gln367Pro Disease - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL P22681 VAR_064333 p.Lys382Glu Disease - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL P22681 VAR_064334 p.Asp390Tyr Disease - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL P22681 VAR_064335 p.Arg420Gln Disease - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBR1 P16152 VAR_031706 p.Pro131Ser Polymorphism rs41557318 - CBR1 P16152 VAR_059053 p.Val88Ile Polymorphism rs1143663 - CBR3 O75828 VAR_033868 p.Cys4Tyr Polymorphism rs8133052 - CBR3 O75828 VAR_033869 p.Leu84Val Polymorphism rs9282628 - CBR3 O75828 VAR_033870 p.Val93Ile Polymorphism rs2835285 - CBR3 O75828 VAR_033871 p.Pro131Ser Polymorphism rs16993929 - CBR3 O75828 VAR_033872 p.Met235Leu Polymorphism rs4987121 - CBR3 O75828 VAR_033873 p.Val244Met Polymorphism rs1056892 - CBR4 Q8N4T8 VAR_039049 p.Leu70Met Polymorphism rs2877380 - CBS P35520 VAR_002171 p.Pro78Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002172 p.Pro88Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002173 p.Lys102Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002174 p.Ala114Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002175 p.Arg125Gln Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002176 p.Glu131Asp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002177 p.Glu144Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002178 p.Pro145Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002179 p.Cys165Tyr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002180 p.Val168Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002181 p.Arg224His Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002182 p.Glu239Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002183 p.Thr257Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002184 p.Ile278Thr Disease rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002185 p.Pro290Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002186 p.Gly307Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002187 p.Ala331Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002188 p.Arg336Cys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002189 p.Arg369His Disease rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002190 p.Val371Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002191 p.Lys384Glu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002192 p.Asp444Asn Disease rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002193 p.Val454Glu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_002194 p.Leu539Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008049 p.Pro49Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008050 p.Arg58Trp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008051 p.Gly85Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008052 p.Lys102Gln Disease rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008053 p.Gly116Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008054 p.Arg121Cys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008055 p.Arg121His Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008056 p.Arg121Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008057 p.Arg125Trp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008058 p.Met126Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008059 p.Glu128Asp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008060 p.Gly139Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008061 p.Gly148Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008062 p.Gly151Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008064 p.Ile152Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008065 p.Ala155Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008066 p.Glu176Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008067 p.Val180Ala Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008068 p.Thr191Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008069 p.Asp198Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008070 p.Ala226Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008071 p.Asp234Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008072 p.Thr262Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008073 p.Arg266Gly Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008074 p.Arg266Lys Disease rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008076 p.Glu302Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008077 p.Gly305Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008078 p.Val320Ala Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008079 p.Ala331Glu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008080 p.Arg336His Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008081 p.Ser352Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008082 p.Thr353Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008083 p.Val354Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008084 p.Arg369Cys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008085 p.Cys370Tyr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008086 p.Lys384Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008087 p.Met391Ile Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008088 p.Thr434Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008089 p.Ile435Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008090 p.Arg439Gln Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008091 p.Ser466Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008092 p.Arg491Cys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_008093 p.Val534Asp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021790 p.His65Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021791 p.Leu101Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021792 p.Cys109Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021793 p.Ile143Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021794 p.Asn228Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021795 p.Thr262Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021796 p.Cys275Tyr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021797 p.Leu338Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021798 p.Gly347Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021799 p.Ser349Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021800 p.Ala355Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021801 p.Arg379Gln Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021802 p.Pro422Leu Disease rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_021803 p.Leu456Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046921 p.Arg18Cys Unclassified - - CBS P35520 VAR_046922 p.Ala69Pro Polymorphism rs17849313 - CBS P35520 VAR_046923 p.Arg125Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046924 p.Leu154Gln Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046925 p.Ala155Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046926 p.Val168Ala Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046927 p.Met173Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046928 p.Asn228Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046929 p.Ala231Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046932 p.Ala288Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046933 p.Ala288Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046934 p.Ala361Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046935 p.Asp376Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046936 p.Arg379Trp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046937 p.Gln526Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] CBS P35520 VAR_046938 p.Arg548Gln Unclassified - - CBWD1 Q9BRT8 VAR_026979 p.Ala8Val Polymorphism rs16925054 - CBX2 Q14781 VAR_063751 p.Pro98Leu Disease rs121908255 46,XY sex reversal type 5 (SRXY5) [MIM:613080] CBX2 Q14781 VAR_063752 p.Arg443Pro Disease rs121908256 46,XY sex reversal type 5 (SRXY5) [MIM:613080] CBX8 Q9HC52 VAR_014954 p.Gly317Val Polymorphism rs4889891 - CC2D1A Q6P1N0 VAR_026670 p.Thr339Pro Polymorphism rs11883041 - CC2D1A Q6P1N0 VAR_026671 p.Thr635Ser Polymorphism rs2290663 - CC2D1A Q6P1N0 VAR_026672 p.Thr801Met Polymorphism rs2305777 - CC2D1B Q5T0F9 VAR_062191 p.Met35Thr Polymorphism rs11555349 - CC2D2A Q9P2K1 VAR_038489 p.Glu376Ala Polymorphism rs16892095 - CC2D2A Q9P2K1 VAR_038490 p.Val660Ile Polymorphism rs16892134 - CC2D2A Q9P2K1 VAR_055321 p.Gln1096His Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_055322 p.Pro1122Ser Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_055323 p.Arg1528Cys Disease - COACH syndrome (COACHS) [MIM:216360] CC2D2A Q9P2K1 VAR_055323 p.Arg1528Cys Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_055324 p.Leu1551Pro Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_062293 p.Thr1114Met Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_062293 p.Thr1114Met Disease - Meckel syndrome type 6 (MKS6) [MIM:612284] CC2D2A Q9P2K1 VAR_062804 p.Pro721Ser Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_062805 p.Lys800Glu Polymorphism - - CC2D2A Q9P2K1 VAR_062806 p.Asp1556Val Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285] CC2D2A Q9P2K1 VAR_063804 p.Thr1116Met Disease - COACH syndrome (COACHS) [MIM:216360] CC2D2B Q6DHV5 VAR_050697 p.Asn64Asp Polymorphism rs17383738 - CC2D2B Q6DHV5 VAR_050698 p.Tyr237His Polymorphism rs9943393 - CC2D2B Q6DHV5 VAR_050699 p.Gln322Leu Polymorphism rs1336459 - CCAR1 Q8IX12 VAR_035497 p.Glu607Lys Unclassified - A colorectal cancer sample CCAR1 Q8IX12 VAR_058330 p.Thr588Ile Polymorphism rs1782338 - CCAR1 Q8IX12 VAR_058331 p.Glu681Gly Polymorphism rs1060145 - CCAR1 Q8IX12 VAR_058332 p.Met747Val Polymorphism rs11542602 - CCBE1 Q6UXH8 VAR_048971 p.Val193Gly Polymorphism rs11659589 - CCBE1 Q6UXH8 VAR_063746 p.Cys75Ser Disease rs121908250 Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] CCBE1 Q6UXH8 VAR_063747 p.Cys102Ser Disease rs121908251 Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] CCBE1 Q6UXH8 VAR_063748 p.Arg158Cys Disease rs121908253 Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] CCBE1 Q6UXH8 VAR_063749 p.Cys174Arg Disease rs121908254 Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] CCBE1 Q6UXH8 VAR_063750 p.Gly327Arg Disease - Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] CCBL2 Q6YP21 VAR_032352 p.Ser206Pro Polymorphism rs1059370 - CCBP2 O00590 VAR_024252 p.Tyr373Ser Polymorphism rs2228468 - CCBP2 O00590 VAR_049379 p.Val41Ala Polymorphism rs2228467 - CCBP2 O00590 VAR_049380 p.Ala248Val Polymorphism rs2228469 - CCBP2 O00590 VAR_049381 p.Leu311Val Polymorphism rs6779520 - CCDC102B Q68D86 VAR_022893 p.Cys346Phe Polymorphism rs745894 - CCDC102B Q68D86 VAR_022894 p.Ala429Pro Polymorphism rs9963788 - CCDC102B Q68D86 VAR_047331 p.Lys153Asn Polymorphism rs572020 - CCDC102B Q68D86 VAR_047332 p.Lys298Arg Polymorphism rs2187094 - CCDC102B Q68D86 VAR_047333 p.Glu370Gly Polymorphism rs34102373 - CCDC102B Q68D86 VAR_047334 p.Asn425Lys Polymorphism rs17080065 - CCDC104 Q96G28 VAR_030795 p.Asp243Gly Polymorphism rs1045910 - CCDC104 Q96G28 VAR_030796 p.Ile246Phe Polymorphism rs1045920 - CCDC104 Q96G28 VAR_050725 p.Glu6Asp Polymorphism rs34891804 - CCDC105 Q8IYK2 VAR_030875 p.Asp434Glu Polymorphism rs17855585 - CCDC105 Q8IYK2 VAR_030876 p.Ser444Thr Polymorphism rs8111625 - CCDC105 Q8IYK2 VAR_030877 p.Pro499Thr Polymorphism rs8112667 - CCDC105 Q8IYK2 VAR_056774 p.Val245Met Polymorphism rs35352238 - CCDC105 Q8IYK2 VAR_056775 p.Met248Thr Polymorphism rs34375549 - CCDC107 Q8WV48 VAR_031406 p.Ser190Phe Polymorphism rs2275420 - CCDC107 Q8WV48 VAR_031407 p.Ile220Val Polymorphism rs1339374 - CCDC107 Q8WV48 VAR_031408 p.Ser242Cys Polymorphism rs10441685 - CCDC108 Q6ZU64 VAR_032500 p.Met66Leu Polymorphism rs6736922 - CCDC108 Q6ZU64 VAR_050726 p.Val672Ile Polymorphism rs13403802 - CCDC108 Q6ZU64 VAR_050727 p.Lys806Met Polymorphism rs9653262 - CCDC108 Q6ZU64 VAR_050728 p.Asn1858Ser Polymorphism rs11893183 - CCDC109B Q9NWR8 VAR_031443 p.Tyr253Phe Polymorphism rs13846 - CCDC109B Q9NWR8 VAR_031444 p.Ile255Val Polymorphism rs1053680 - CCDC109B Q9NWR8 VAR_060149 p.Ile63Asn Polymorphism rs4698744 - CCDC110 Q8TBZ0 VAR_050729 p.Pro209Gln Polymorphism rs7699687 - CCDC110 Q8TBZ0 VAR_050730 p.Leu299Met Polymorphism rs7698680 - CCDC110 Q8TBZ0 VAR_050731 p.Leu382Met Polymorphism rs9999097 - CCDC110 Q8TBZ0 VAR_050732 p.Ser409Phe Polymorphism rs11132306 - CCDC110 Q8TBZ0 VAR_050733 p.Ile614Met Polymorphism rs35596415 - CCDC110 Q8TBZ0 VAR_050734 p.Gln669Arg Polymorphism rs6827370 - CCDC110 Q8TBZ0 VAR_050735 p.Ser817Leu Polymorphism rs9683564 - CCDC110 Q8TBZ0 VAR_050736 p.Leu819Met Polymorphism rs34800518 - CCDC110 Q8TBZ0 VAR_061577 p.Tyr500Asp Polymorphism rs59319722 - CCDC111 Q96LW4 VAR_030878 p.Gln168Arg Polymorphism rs2463447 - CCDC111 Q96LW4 VAR_030879 p.Thr505Lys Polymorphism rs14969 - CCDC112 Q8NEF3 VAR_039147 p.His32Leu Polymorphism rs34457718 - CCDC112 Q8NEF3 VAR_039148 p.Ser144Asn Polymorphism rs34056787 - CCDC112 Q8NEF3 VAR_039149 p.Lys341Asn Polymorphism rs17856922 - CCDC112 Q8NEF3 VAR_039150 p.Glu354Gly Polymorphism rs17852930 - CCDC113 Q9H0I3 VAR_030880 p.Asp4Glu Polymorphism rs8043587 - CCDC113 Q9H0I3 VAR_030881 p.Ser6Thr Polymorphism rs8043590 - CCDC114 Q96M63 VAR_032501 p.Arg329His Polymorphism rs35361179 - CCDC114 Q96M63 VAR_032502 p.Pro468Leu Polymorphism rs35461177 - CCDC116 Q8IYX3 VAR_028803 p.Arg96Cys Polymorphism rs861854 - CCDC116 Q8IYX3 VAR_028804 p.Gly121Arg Polymorphism rs371513 - CCDC116 Q8IYX3 VAR_028805 p.Arg122Trp Polymorphism rs861853 - CCDC116 Q8IYX3 VAR_028806 p.Arg199Trp Polymorphism rs12170285 - CCDC116 Q8IYX3 VAR_028807 p.Ala436Thr Polymorphism rs11705259 - CCDC116 Q8IYX3 VAR_061578 p.Pro293Leu Polymorphism rs41279987 - CCDC117 Q8IWD4 VAR_028823 p.Arg147Ser Polymorphism rs13057011 - CCDC117 Q8IWD4 VAR_028824 p.Ser272Asn Polymorphism rs9613680 - CCDC11 Q96M91 VAR_050746 p.Arg231Cys Polymorphism rs12607385 - CCDC11 Q96M91 VAR_050747 p.Glu294Lys Polymorphism rs35193847 - CCDC122 Q5T0U0 VAR_061579 p.Ile269Thr Polymorphism rs9567280 - CCDC124 Q96CT7 VAR_053809 p.Glu138Gln Polymorphism rs8104153 - CCDC125 Q86Z20 VAR_032505 p.Val13Met Polymorphism rs10471774 - CCDC127 Q96BQ5 VAR_050737 p.Arg60His Polymorphism rs11557427 - CCDC129 Q6ZRS4 VAR_033660 p.Ala32Asp Polymorphism rs7811042 - CCDC129 Q6ZRS4 VAR_033661 p.Ala490Val Polymorphism rs4141001 - CCDC129 Q6ZRS4 VAR_033662 p.Cys809Tyr Polymorphism rs10247620 - CCDC129 Q6ZRS4 VAR_033663 p.His887Tyr Polymorphism rs7799540 - CCDC129 Q6ZRS4 VAR_035496 p.Leu105Val Unclassified - A colorectal cancer sample CCDC129 Q6ZRS4 VAR_063505 p.His377Arg Polymorphism rs10252720 - CCDC130 P13994 VAR_053854 p.Ser22Cys Polymorphism rs12974461 - CCDC130 P13994 VAR_053855 p.Cys336Ser Polymorphism rs35761244 - CCDC135 Q8IY82 VAR_030898 p.Cys186Ser Polymorphism rs7196016 - CCDC135 Q8IY82 VAR_030899 p.Pro433Leu Polymorphism rs3809611 - CCDC135 Q8IY82 VAR_030900 p.Asn581Lys Polymorphism rs2923144 - CCDC135 Q8IY82 VAR_030901 p.Cys766Arg Polymorphism rs2923147 - CCDC135 Q8IY82 VAR_050738 p.Leu120Met Polymorphism rs11649000 - CCDC135 Q8IY82 VAR_055286 p.Pro521His Polymorphism rs17853687 - CCDC135 Q8IY82 VAR_061580 p.Asp51Asn Polymorphism rs55645458 - CCDC135 Q8IY82 VAR_061581 p.Val241Glu Polymorphism rs58373934 - CCDC136 Q96JN2 VAR_034880 p.Asp218His Polymorphism rs3816887 - CCDC136 Q96JN2 VAR_034881 p.Gln1049Glu Polymorphism rs4728137 - CCDC137 Q6PK04 VAR_050739 p.His127Gln Polymorphism rs7226091 - CCDC137 Q6PK04 VAR_050740 p.Arg177Trp Polymorphism rs11150805 - CCDC137 Q6PK04 VAR_050741 p.Arg229Gln Polymorphism rs11546630 - CCDC137 Q6PK04 VAR_061582 p.Arg282Trp Polymorphism rs11546631 - CCDC138 Q96M89 VAR_032420 p.Asp99Tyr Polymorphism rs35794776 - CCDC138 Q96M89 VAR_032421 p.Arg115Lys Polymorphism rs6740879 - CCDC13 Q8IYE1 VAR_033664 p.Ser547Thr Polymorphism rs12495805 - CCDC13 Q8IYE1 VAR_055093 p.Arg25Trp Polymorphism rs17238798 - CCDC13 Q8IYE1 VAR_055094 p.Glu375Val Polymorphism rs17853515 - CCDC141 Q6ZP82 VAR_047904 p.Arg253Trp Polymorphism rs12988301 - CCDC141 Q6ZP82 VAR_047905 p.Arg360Trp Polymorphism rs17362588 - CCDC141 Q6ZP82 VAR_047906 p.Asn595Ser Polymorphism rs13419085 - CCDC142 Q17RM4 VAR_037210 p.Arg534Gln Polymorphism rs13385919 - CCDC144NL Q6NUI1 VAR_045892 p.Gly82Asp Polymorphism rs7216787 - CCDC146 Q8IYE0 VAR_050742 p.Asn345Ser Polymorphism rs1109968 - CCDC146 Q8IYE0 VAR_061583 p.Glu263Gln Polymorphism rs17853516 - CCDC146 Q8IYE0 VAR_061584 p.Ile466Thr Polymorphism rs58545343 - CCDC147 Q5T655 VAR_030255 p.Ser496Thr Polymorphism rs11192036 - CCDC147 Q5T655 VAR_030256 p.Gln804His Polymorphism rs7087328 - CCDC148 Q8NFR7 VAR_039982 p.Gln75Arg Polymorphism rs4664950 - CCDC148 Q8NFR7 VAR_039983 p.Met157Val Polymorphism rs12620556 - CCDC148 Q8NFR7 VAR_039984 p.Lys329Arg Polymorphism rs7559772 - CCDC14 Q49A88 VAR_043116 p.Thr365Pro Polymorphism rs17310144 - CCDC150 Q8NCX0 VAR_042600 p.Glu156Lys Polymorphism rs34133636 - CCDC151 A5D8V7 VAR_050743 p.Arg545Pro Polymorphism rs34619515 - CCDC152 Q4G0S7 VAR_059596 p.Arg251His Polymorphism rs6879044 - CCDC153 Q494R4 VAR_044322 p.Arg101His Polymorphism rs2301574 - CCDC155 Q8N6L0 VAR_059597 p.Leu116Pro Polymorphism rs8102582 - CCDC155 Q8N6L0 VAR_059598 p.Arg129Gln Polymorphism rs10405154 - CCDC157 Q569K6 VAR_038999 p.Pro191Leu Polymorphism rs12167903 - CCDC157 Q569K6 VAR_039000 p.Ser587Ala Polymorphism rs2015035 - CCDC157 Q569K6 VAR_060124 p.Asp51Asn Polymorphism rs740223 - CCDC158 Q5M9N0 VAR_039909 p.Glu232Asp Polymorphism rs17001889 - CCDC158 Q5M9N0 VAR_039910 p.Ile297Val Polymorphism rs17001885 - CCDC159 P0C7I6 VAR_043032 p.Cys393Ser Polymorphism rs6887 - CCDC15 Q0P6D6 VAR_050748 p.Gly529Asp Polymorphism rs4936966 - CCDC15 Q0P6D6 VAR_050749 p.Cys813Arg Polymorphism rs7107487 - CCDC162P A2VCL2 VAR_035404 p.Ile84Thr Polymorphism rs6927569 - CCDC164 Q96MC2 VAR_030625 p.Lys357Glu Polymorphism rs3795958 - CCDC164 Q96MC2 VAR_030626 p.Trp399Arg Polymorphism rs939820 - CCDC164 Q96MC2 VAR_030627 p.Val633Phe Polymorphism rs12623642 - CCDC164 Q96MC2 VAR_030628 p.Ser702Ile Polymorphism rs3172008 - CCDC164 Q96MC2 VAR_057758 p.Val734Met Polymorphism rs35313480 - CCDC168 Q8NDH2 VAR_044210 p.Pro30Ser Polymorphism rs11843669 - CCDC168 Q8NDH2 VAR_044211 p.Met94Val Polymorphism rs17592459 - CCDC168 Q8NDH2 VAR_044212 p.Gly264Ser Polymorphism rs9518825 - CCDC168 Q8NDH2 VAR_044213 p.Ser314Pro Polymorphism rs9300758 - CCDC168 Q8NDH2 VAR_044214 p.Leu347Pro Polymorphism rs9300757 - CCDC168 Q8NDH2 VAR_044215 p.Gly382Ala Polymorphism rs17507841 - CCDC168 Q8NDH2 VAR_044216 p.Arg1015Thr Polymorphism rs7982465 - CCDC168 Q8NDH2 VAR_044217 p.Asn1121Ser Polymorphism rs7983175 - CCDC168 Q8NDH2 VAR_044218 p.Arg1209Gln Polymorphism rs17592438 - CCDC168 Q8NDH2 VAR_044219 p.Phe1287Leu Polymorphism rs7335290 - CCDC168 Q8NDH2 VAR_044220 p.Leu1382Pro Polymorphism rs6491707 - CCDC168 Q8NDH2 VAR_044221 p.Arg1446Cys Polymorphism rs9300756 - CCDC168 Q8NDH2 VAR_044222 p.Thr1483Met Polymorphism rs17507827 - CCDC168 Q8NDH2 VAR_044223 p.Glu1879Ala Polymorphism rs9514051 - CCDC168 Q8NDH2 VAR_044224 p.Lys1915Glu Polymorphism rs9554897 - CCDC169 A6NNP5 VAR_057811 p.Lys120Arg Polymorphism rs9546897 - CCDC170 Q8IYT3 VAR_028856 p.Ala269Val Polymorphism rs12205837 - CCDC170 Q8IYT3 VAR_028857 p.Phe324Ser Polymorphism rs953767 - CCDC170 Q8IYT3 VAR_028858 p.Ala331Thr Polymorphism rs17855718 - CCDC170 Q8IYT3 VAR_028859 p.Val604Ile Polymorphism rs6929137 - CCDC170 Q8IYT3 VAR_028860 p.Val683Ile Polymorphism rs3734804 - CCDC170 Q8IYT3 VAR_050805 p.Asn479Lys Polymorphism rs35159094 - CCDC170 Q8IYT3 VAR_050806 p.Arg553Gln Polymorphism rs34430497 - CCDC170 Q8IYT3 VAR_061591 p.Glu345Lys Polymorphism rs55868409 - CCDC171 Q6TFL3 VAR_022803 p.Ile17Asn Polymorphism rs443563 - CCDC171 Q6TFL3 VAR_022804 p.Ser121Thr Polymorphism rs4741510 - CCDC171 Q6TFL3 VAR_022805 p.Lys1069Arg Polymorphism rs1539172 - CCDC171 Q6TFL3 VAR_033685 p.Asn495Ile Polymorphism rs10962127 - CCDC171 Q6TFL3 VAR_050841 p.Cys821Tyr Polymorphism rs34816651 - CCDC174 Q6PII3 VAR_061573 p.Thr436Met Polymorphism rs60239620 - CCDC175 P0C221 VAR_050871 p.Gly164Arg Polymorphism rs17834244 - CCDC175 P0C221 VAR_050872 p.Gly507Glu Polymorphism rs4261431 - CCDC175 P0C221 VAR_050873 p.Ser689Asn Polymorphism rs12887189 - CCDC175 P0C221 VAR_050874 p.Ser689Arg Polymorphism rs4394993 - CCDC176 Q8ND07 VAR_027815 p.Lys496Glu Polymorphism rs3742809 - CCDC176 Q8ND07 VAR_059618 p.Arg58Gln Polymorphism rs3784039 - CCDC176 Q8ND07 VAR_059619 p.Arg183Lys Polymorphism rs17182762 - CCDC176 Q8ND07 VAR_059620 p.Asp230Val Polymorphism rs3784038 - CCDC178 Q5BJE1 VAR_047010 p.Ala42Thr Polymorphism rs12606658 - CCDC178 Q5BJE1 VAR_047011 p.Val465Glu Polymorphism rs9965081 - CCDC178 Q5BJE1 VAR_047012 p.Leu600Arg Polymorphism rs457896 - CCDC178 Q5BJE1 VAR_047013 p.Asp601Asn Polymorphism rs466113 - CCDC178 Q5BJE1 VAR_061624 p.Asp420Asn Polymorphism rs58448816 - CCDC17 Q96LX7 VAR_034976 p.Pro353Leu Polymorphism rs3014242 - CCDC17 Q96LX7 VAR_034977 p.Ile557Val Polymorphism rs2297654 - CCDC17 Q96LX7 VAR_059599 p.Val470Ile Polymorphism rs17410855 - CCDC17 Q96LX7 VAR_063516 p.Ser580Asn Polymorphism rs3014246 - CCDC19 Q9UL16 VAR_059600 p.Glu291Gly Polymorphism rs16842789 - CCDC27 Q2M243 VAR_026159 p.Gln54Glu Polymorphism rs10910021 - CCDC27 Q2M243 VAR_026160 p.Met267Thr Polymorphism rs1181883 - CCDC27 Q2M243 VAR_026161 p.Thr353Met Polymorphism rs10910024 - CCDC27 Q2M243 VAR_056777 p.Pro390Leu Polymorphism rs11806371 - CCDC28A Q8IWP9 VAR_050744 p.Ser42Tyr Polymorphism rs34538642 - CCDC28A Q8IWP9 VAR_050745 p.Pro82Leu Polymorphism rs2273510 - CCDC28B Q9BUN5 VAR_056776 p.Arg25Trp Polymorphism rs1407134 - CCDC30 Q5VVM6 VAR_043472 p.His772Asn Polymorphism rs16829829 - CCDC33 Q8N5R6 VAR_036625 p.Ser683Asn Polymorphism rs1564782 - CCDC33 Q8N5R6 VAR_045602 p.Met635Val Polymorphism rs2277603 - CCDC33 Q8N5R6 VAR_045603 p.Arg640Leu Polymorphism rs2277604 - CCDC33 Q8N5R6 VAR_045604 p.Ser940Tyr Polymorphism rs4887136 - CCDC34 Q96HJ3 VAR_043866 p.Pro53Ser Polymorphism rs11549824 - CCDC34 Q96HJ3 VAR_043867 p.Glu264Ala Polymorphism rs17244028 - CCDC34 Q96HJ3 VAR_043868 p.Ile319Val Polymorphism rs16925453 - CCDC34 Q96HJ3 VAR_050750 p.His192Asn Polymorphism rs12364852 - CCDC36 Q8IYA8 VAR_035002 p.Asp440Glu Polymorphism rs13068038 - CCDC38 Q502W7 VAR_056778 p.Val36Phe Polymorphism rs12368787 - CCDC38 Q502W7 VAR_056779 p.Met227Val Polymorphism rs10859974 - CCDC40 Q4G0X9 VAR_035193 p.Ala8Pro Polymorphism rs2289530 - CCDC41 Q9Y592 VAR_058397 p.Gln70Arg Polymorphism rs2271979 - CCDC42 Q96M95 VAR_026282 p.Ala144Thr Polymorphism rs2288156 - CCDC42 Q96M95 VAR_057786 p.Thr51Pro Polymorphism rs12952995 - CCDC42 Q96M95 VAR_057787 p.Arg75Cys Polymorphism rs9893451 - CCDC50 Q8IVM0 VAR_050754 p.Leu121Phe Polymorphism rs35380043 - CCDC50 Q8IVM0 VAR_050755 p.Met156Thr Polymorphism rs293813 - CCDC51 Q96ER9 VAR_032515 p.Phe360Ser Polymorphism rs7618609 - CCDC54 Q8NEL0 VAR_032151 p.Arg38Gln Polymorphism rs709564 - CCDC57 Q2TAC2 VAR_032516 p.Glu237Gln Polymorphism rs34543170 - CCDC57 Q2TAC2 VAR_032517 p.Gln321Arg Polymorphism rs7406116 - CCDC57 Q2TAC2 VAR_032518 p.Val480Met Polymorphism rs7209474 - CCDC57 Q2TAC2 VAR_032519 p.Arg775Gly Polymorphism rs4625783 - CCDC57 Q2TAC2 VAR_032520 p.Asp777Asn Polymorphism rs7406163 - CCDC57 Q2TAC2 VAR_032521 p.Ala778Thr Polymorphism rs7406162 - CCDC57 Q2TAC2 VAR_032522 p.Gln811Lys Polymorphism rs7213172 - CCDC57 Q2TAC2 VAR_032523 p.Met834Thr Polymorphism rs11077969 - CCDC60 Q8IWA6 VAR_033667 p.Ile46Val Polymorphism rs1064319 - CCDC60 Q8IWA6 VAR_033668 p.Thr115Ala Polymorphism rs2519540 - CCDC60 Q8IWA6 VAR_033669 p.Val393Ile Polymorphism rs16949292 - CCDC62 Q6P9F0 VAR_026715 p.Thr394Lys Polymorphism rs17855031 - CCDC62 Q6P9F0 VAR_035498 p.Gln31Glu Unclassified - A colorectal cancer sample CCDC62 Q6P9F0 VAR_061585 p.Thr141Met Polymorphism rs58131754 - CCDC63 Q8NA47 VAR_050758 p.Leu212Ser Polymorphism rs12371434 - CCDC64B A1A5D9 VAR_034978 p.Gln273Arg Polymorphism rs2244494 - CCDC64B A1A5D9 VAR_060543 p.Gln55Glu Polymorphism rs7204908 - CCDC65 Q8IXS2 VAR_056780 p.His133Arg Polymorphism rs10747556 - CCDC65 Q8IXS2 VAR_056781 p.Tyr408Cys Polymorphism rs4760600 - CCDC66 A2RUB6 VAR_039111 p.Gln383Arg Polymorphism rs1491170 - CCDC66 A2RUB6 VAR_039112 p.Arg460Gln Polymorphism rs7637449 - CCDC66 A2RUB6 VAR_039113 p.Glu592Lys Polymorphism rs4681904 - CCDC67 Q05D60 VAR_050759 p.Ser175Phe Polymorphism rs34205920 - CCDC67 Q05D60 VAR_050760 p.Glu440Gln Polymorphism rs12288277 - CCDC67 Q05D60 VAR_050761 p.Gln504Lys Polymorphism rs2259633 - CCDC67 Q05D60 VAR_059601 p.Glu440Gly Polymorphism rs12282288 - CCDC68 Q9H2F9 VAR_050762 p.Val249Ala Polymorphism rs34751112 - CCDC69 A6NI79 VAR_042584 p.Arg197Lys Polymorphism rs248427 - CCDC6 Q16204 VAR_062971 p.Pro470Thr Polymorphism rs1053266 - CCDC70 Q6NSX1 VAR_026238 p.Ile206Val Polymorphism rs1054515 - CCDC70 Q6NSX1 VAR_050763 p.Arg126Cys Polymorphism rs17076052 - CCDC71 Q8IV32 VAR_026236 p.Gln317Leu Polymorphism rs4955419 - CCDC71 Q8IV32 VAR_026237 p.Trp339Arg Polymorphism rs4955418 - CCDC74A Q96AQ1 VAR_030268 p.Gly302Arg Polymorphism rs13660 - CCDC74B Q96LY2 VAR_030269 p.Thr169Met Polymorphism rs2599971 - CCDC74B Q96LY2 VAR_030270 p.Arg346His Polymorphism rs3177472 - CCDC77 Q9BR77 VAR_029838 p.Ser25Arg Polymorphism rs4980895 - CCDC77 Q9BR77 VAR_029839 p.Met335Thr Polymorphism rs735295 - CCDC78 A2IDD5 VAR_032867 p.Trp252Arg Polymorphism rs2071950 - CCDC7 Q96M83 VAR_050766 p.Lys449Thr Polymorphism rs12268559 - CCDC7 Q96M83 VAR_061586 p.Lys148Gln Polymorphism rs56391924 - CCDC81 Q6ZN84 VAR_032524 p.Tyr449Cys Polymorphism rs3741005 - CCDC82 Q8N4S0 VAR_026164 p.Gln149Glu Polymorphism rs17851661 - CCDC82 Q8N4S0 VAR_026165 p.Gln327Arg Polymorphism rs10831519 - CCDC82 Q8N4S0 VAR_050764 p.Lys128Arg Polymorphism rs3748261 - CCDC83 Q8IWF9 VAR_032525 p.Thr49Ala Polymorphism rs12362209 - CCDC84 Q86UT8 VAR_029848 p.Trp244Gly Polymorphism rs600648 - CCDC86 Q9H6F5 VAR_032069 p.Gln153His Polymorphism rs2074421 - CCDC87 Q9NVE4 VAR_033224 p.Phe217Leu Polymorphism rs17853294 - CCDC87 Q9NVE4 VAR_056782 p.Ala156Thr Polymorphism rs1110707 - CCDC88B A6NC98 VAR_038523 p.Asp193Glu Polymorphism rs647152 - CCDC88B A6NC98 VAR_038524 p.Trp639Arg Polymorphism rs685870 - CCDC88B A6NC98 VAR_038525 p.Asp886Ala Polymorphism rs1318165 - CCDC88C Q9P219 VAR_046613 p.Ala811Glu Polymorphism rs17127223 - CCDC88C Q9P219 VAR_046614 p.Ala1028Val Polymorphism rs1970911 - CCDC88C Q9P219 VAR_046615 p.Leu1992Pro Polymorphism rs941920 - CCDC88C Q9P219 VAR_057777 p.Leu637Val Polymorphism rs7160308 - CCDC8 Q9H0W5 VAR_020272 p.Lys507Asn Polymorphism rs2279517 - CCDC8 Q9H0W5 VAR_061587 p.Gly296Arg Polymorphism rs11880658 - CCDC8 Q9H0W5 VAR_061588 p.His383Tyr Polymorphism rs34186470 - CCDC90A Q96AQ8 VAR_033320 p.Ser108Gly Polymorphism rs1204145 - CCDC90A Q96AQ8 VAR_033321 p.Thr216Ala Polymorphism rs3180196 - CCDC90B Q9GZT6 VAR_033322 p.Phe10Leu Polymorphism rs494791 - CCDC91 Q7Z6B0 VAR_021531 p.Met261Val Polymorphism rs1133028 - CCDC91 Q7Z6B0 VAR_021532 p.Val314Met Polymorphism rs10771427 - CCDC92 Q53HC0 VAR_030301 p.Ser70Cys Polymorphism rs11057401 - CCDC92 Q53HC0 VAR_030302 p.Arg281His Polymorphism rs17886730 - CCDC92 Q53HC0 VAR_050765 p.Ala253Thr Polymorphism rs35935939 - CCDC93 Q567U6 VAR_035499 p.His315Arg Unclassified - A colorectal cancer sample CCDC93 Q567U6 VAR_054108 p.Arg179Cys Polymorphism rs33975708 - CCDC93 Q567U6 VAR_054109 p.Arg213Cys Polymorphism rs34095554 - CCDC93 Q567U6 VAR_054110 p.Pro228Leu Polymorphism rs17512204 - CCDC93 Q567U6 VAR_054111 p.Tyr465His Polymorphism rs17047557 - CCDC96 Q2M329 VAR_026162 p.Glu96Lys Polymorphism rs871134 - CCDC9 Q9Y3X0 VAR_033670 p.Glu215Asp Polymorphism rs2032811 - CCDC9 Q9Y3X0 VAR_033671 p.Ala456Val Polymorphism rs35119724 - CCDC9 Q9Y3X0 VAR_050767 p.Leu478Pro Polymorphism rs888836 - CCER1 Q8TC90 VAR_032512 p.Ile379Met Polymorphism rs17855513 - CCER1 Q8TC90 VAR_059617 p.Asp286Glu Polymorphism rs11105882 - CCHCR1 Q8TD31 VAR_017761 p.Arg102Gln Polymorphism rs130075 - CCHCR1 Q8TD31 VAR_017762 p.Arg103Trp Polymorphism rs130065 - CCHCR1 Q8TD31 VAR_017763 p.Arg109Trp Polymorphism rs130076 - CCHCR1 Q8TD31 VAR_017764 p.Ser164Arg Polymorphism rs130066 - CCHCR1 Q8TD31 VAR_017765 p.Glu275Asp Polymorphism rs130067 - CCHCR1 Q8TD31 VAR_017766 p.Arg417Trp Polymorphism rs130068 - CCHCR1 Q8TD31 VAR_017767 p.Arg417Gln Polymorphism rs130069 - CCHCR1 Q8TD31 VAR_017768 p.Lys546Arg Polymorphism rs2073720 - CCHCR1 Q8TD31 VAR_017769 p.Gly575Cys Polymorphism rs130079 - CCHCR1 Q8TD31 VAR_017770 p.Arg627Gln Polymorphism rs130072 - CCHCR1 Q8TD31 VAR_017771 p.Gln639His Polymorphism rs130074 - CCHCR1 Q8TD31 VAR_017772 p.Ser776Cys Polymorphism rs1576 - CCHCR1 Q8TD31 VAR_017782 p.Leu179Gln Polymorphism rs11540822 - CCHCR1 Q8TD31 VAR_017783 p.Ala367Thr Polymorphism rs2027937 - CCHCR1 Q8TD31 VAR_017784 p.Ala733Val Polymorphism - - CCIN Q13939 VAR_050039 p.Ser75Asn Polymorphism rs34789048 - CCKBR P32239 VAR_014684 p.Leu37Phe Polymorphism rs1805000 - CCKBR P32239 VAR_014685 p.Val125Ile Polymorphism rs1805002 - CCKBR P32239 VAR_014686 p.Arg215His Polymorphism rs1805004 - CCKBR P32239 VAR_014687 p.Arg319Gln Polymorphism rs1805001 - CCKBR P32239 VAR_049388 p.Val77Gly Polymorphism rs35816985 - CCK P06307 VAR_018818 p.Gly32Glu Polymorphism rs11571848 - CCK P06307 VAR_024452 p.Arg95Trp Polymorphism rs3774395 - CCL11 P51671 VAR_001634 p.Leu7Pro Unclassified - - CCL11 P51671 VAR_001635 p.Ala23Thr Polymorphism rs1129844 - CCL11 P51671 VAR_001636 p.Arg51Ser Unclassified - - CCL11 P51671 VAR_001637 p.Lys79Arg Unclassified - - CCL11 P51671 VAR_048705 p.Lys86Thr Polymorphism rs34262946 - CCL13 Q99616 VAR_024169 p.Ala5Ser Polymorphism rs3136677 - CCL13 Q99616 VAR_048706 p.Asn29Ser Polymorphism rs34566308 - CCL14 Q16627 VAR_048707 p.Lys61Glu Polymorphism rs16971802 - CCL15 Q16663 VAR_011640 p.Ile24Thr Polymorphism rs854625 - CCL17 Q92583 VAR_048708 p.Lys5Asn Polymorphism rs34693308 - CCL17 Q92583 VAR_048709 p.Val67Met Polymorphism rs34379253 - CCL20 P78556 VAR_011915 p.Val47Met Polymorphism rs1049617 - CCL22 O00626 VAR_055117 p.Asp2Ala Polymorphism rs4359426 - CCL23 P55773 VAR_011916 p.Val106Met Polymorphism rs1003645 - CCL24 O00175 VAR_018404 p.Ile29Leu Polymorphism rs2302006 - CCL24 O00175 VAR_048710 p.Ser31Phe Polymorphism rs11465293 - CCL24 O00175 VAR_048711 p.Ala102Thr Polymorphism rs11465312 - CCL24 O00175 VAR_048712 p.Gln110Glu Polymorphism rs11465313 - CCL25 O15444 VAR_044519 p.Thr23Ala Polymorphism rs960173 - CCL25 O15444 VAR_044520 p.His101Arg Polymorphism rs2032887 - CCL25 O15444 VAR_044521 p.Thr104Met Polymorphism rs1129763 - CCL26 Q9Y258 VAR_029192 p.Leu18Arg Polymorphism rs11465333 - CCL27 Q9Y4X3 VAR_022103 p.Ile78Val Polymorphism rs11575594 - CCL27 Q9Y4X3 VAR_022104 p.Leu96Phe Polymorphism rs11575584 - CCL3 P10147 VAR_048701 p.Glu78Asp Polymorphism rs34171309 - CCL4 P13236 VAR_048702 p.Met12Val Polymorphism rs9635771 - CCL4 P13236 VAR_048703 p.Pro20Leu Polymorphism rs1130750 - CCL4 P13236 VAR_059211 p.Ser80Thr Polymorphism rs1719152 - CCL5 P13501 VAR_043043 p.Ser24Phe Polymorphism - - CCL8 P80075 VAR_001633 p.Lys69Gln Polymorphism rs1133763 - CCL8 P80075 VAR_048704 p.Ala14Val Polymorphism rs35401229 - CCM2 Q9BSQ5 VAR_023575 p.Val53Ile Polymorphism rs2107732 - CCM2 Q9BSQ5 VAR_023576 p.Val120Ile Polymorphism rs11552377 - CCM2 Q9BSQ5 VAR_023577 p.Leu198Arg Disease - Cerebral cavernous malformations type 2 (CCM2) [MIM:603284] CCM2 Q9BSQ5 VAR_050768 p.Ser289Asn Polymorphism rs2289366 - CCNA2 P20248 VAR_018819 p.Ile163Val Polymorphism rs769242 - CCNB2 O95067 VAR_022221 p.Met100Thr Polymorphism rs16941036 - CCNB2 O95067 VAR_022222 p.Ile395Thr Polymorphism rs28383563 - CCNB2 O95067 VAR_053052 p.Val135Ile Polymorphism rs2306785 - CCNB3 Q8WWL7 VAR_036580 p.Lys597Thr Unclassified - A colorectal cancer sample CCNB3 Q8WWL7 VAR_047027 p.Gly1001Arg Polymorphism rs6614336 - CCND2 P30279 VAR_018820 p.Gly268Arg Polymorphism rs3217921 - CCND3 P30281 VAR_014205 p.Ser259Ala Polymorphism rs1051130 - CCND3 P30281 VAR_020412 p.Pro134Ser Polymorphism rs3218089 - CCND3 P30281 VAR_033726 p.Glu253Asp Polymorphism rs33966734 - CCNE2 O96020 VAR_021347 p.Asn387Ser Polymorphism rs28399585 - CCNG1 P51959 VAR_021079 p.Asn178His Polymorphism rs2069352 - CCNG1 P51959 VAR_021080 p.Phe179Leu Polymorphism rs11541970 - CCNG2 Q16589 VAR_014333 p.Leu4Val Polymorphism rs4150050 - CCNG2 Q16589 VAR_014334 p.Glu28Gly Polymorphism rs4150051 - CCNH P51946 VAR_013067 p.Arg28Leu Polymorphism rs2234942 - CCNH P51946 VAR_013068 p.Met54Val Polymorphism rs3093785 - CCNH P51946 VAR_013069 p.Lys138Arg Polymorphism rs2266691 - CCNH P51946 VAR_013070 p.Val270Ala Polymorphism rs2230641 - CCNI2 Q6ZMN8 VAR_043471 p.Ala91Pro Polymorphism rs803056 - CCNI Q14094 VAR_016312 p.Val207Ile Polymorphism rs4252903 - CCNJL Q8IV13 VAR_053053 p.His234Tyr Polymorphism rs13362036 - CCNO P22674 VAR_029081 p.Leu161Met Polymorphism rs13169396 - CCNT1 O60563 VAR_053054 p.His362Arg Polymorphism rs17123261 - CCNYL2 Q5T2Q4 VAR_037297 p.Val57Glu Polymorphism rs2490085 - CCNYL2 Q5T2Q4 VAR_037298 p.Arg176Gln Polymorphism rs2489720 - CCNYL2 Q5T2Q4 VAR_037299 p.Ile288Val Polymorphism rs2505861 - CCP110 O43303 VAR_019823 p.Ile252Met Polymorphism rs226891 - CCP110 O43303 VAR_019824 p.Met375Ile Polymorphism rs7190666 - CCP110 O43303 VAR_056788 p.Arg69Ser Polymorphism rs16972129 - CCP110 O43303 VAR_056789 p.Pro171Leu Polymorphism rs3751821 - CCP110 O43303 VAR_056790 p.Phe347Ile Polymorphism rs11645625 - CCPG1 Q9ULG6 VAR_037063 p.Ser44Pro Polymorphism rs11555304 - CCPG1 Q9ULG6 VAR_037064 p.Glu161Val Polymorphism rs17853336 - CCPG1 Q9ULG6 VAR_037065 p.Tyr418His Polymorphism rs34958422 - CCPG1 Q9ULG6 VAR_037066 p.Arg436Leu Polymorphism rs17857026 - CCPG1 Q9ULG6 VAR_037067 p.Ala477Val Polymorphism rs1063562 - CCPG1 Q9ULG6 VAR_037068 p.Ala517Asp Polymorphism rs1063563 - CCPG1 Q9ULG6 VAR_037069 p.Gly553Asp Polymorphism rs1063565 - CCPG1 Q9ULG6 VAR_037070 p.Gly553Ser Polymorphism rs1063564 - CCPG1 Q9ULG6 VAR_037071 p.Asn590Lys Polymorphism rs1063566 - CCPG1 Q9ULG6 VAR_037072 p.Lys627Glu Polymorphism rs17853335 - CCPG1 Q9ULG6 VAR_037073 p.Thr646Ile Polymorphism rs17857027 - CCPG1 Q9ULG6 VAR_037074 p.His673Arg Polymorphism rs1063567 - CCR2 P41597 VAR_014339 p.Val64Ile Polymorphism rs1799864 - CCR2 P41597 VAR_014340 p.Gly355Glu Polymorphism rs3918387 - CCR2 P41597 VAR_020066 p.Leu45Val Polymorphism rs4987052 - CCR3 P51677 VAR_010668 p.Cys218Ser Polymorphism - - CCR3 P51677 VAR_020067 p.Gly21Asp Polymorphism rs4987125 - CCR3 P51677 VAR_049382 p.Pro39Leu Polymorphism rs5742906 - CCR4 P51679 VAR_010669 p.Leu130Val Polymorphism - - CCR4 P51679 VAR_010670 p.Cys178Ser Polymorphism - - CCR5 P51681 VAR_003481 p.Tyr10Asp Unclassified - - CCR5 P51681 VAR_003482 p.Arg31His Polymorphism rs56340326 - CCR5 P51681 VAR_003483 p.Pro34Leu Unclassified - - CCR5 P51681 VAR_003484 p.Lys62Arg Unclassified - - CCR5 P51681 VAR_003485 p.Tyr68His Unclassified - - CCR5 P51681 VAR_003486 p.Asp95Asn Unclassified - - CCR5 P51681 VAR_003487 p.Gly97Glu Unclassified - - CCR5 P51681 VAR_003488 p.Leu122Pro Unclassified - - CCR5 P51681 VAR_003489 p.Phe158Ser Unclassified - - CCR5 P51681 VAR_003490 p.Tyr176Cys Unclassified - - CCR5 P51681 VAR_003491 p.Thr177Ala Unclassified - - CCR5 P51681 VAR_003492 p.Ser185Asn Unclassified - - CCR5 P51681 VAR_003493 p.Met210Val Unclassified - - CCR5 P51681 VAR_003494 p.Tyr214Cys Unclassified - - CCR5 P51681 VAR_003495 p.Thr239Ser Unclassified - - CCR5 P51681 VAR_003496 p.Leu246Pro Unclassified - - CCR5 P51681 VAR_003497 p.Thr288Met Unclassified - - CCR5 P51681 VAR_003498 p.Glu302Gly Unclassified - - CCR5 P51681 VAR_003499 p.Lys303Glu Unclassified - - CCR5 P51681 VAR_003500 p.Asn306Ser Unclassified - - CCR5 P51681 VAR_003501 p.Lys322Arg Unclassified - - CCR5 P51681 VAR_003502 p.Glu333Gly Unclassified - - CCR5 P51681 VAR_003503 p.Ala335Val Polymorphism rs1800944 - CCR5 P51681 VAR_003504 p.Tyr339Phe Polymorphism rs1800945 - CCR5 P51681 VAR_003505 p.Glu345Gly Unclassified - - CCR5 P51681 VAR_011839 p.Ala29Ser Polymorphism rs1800939 - CCR5 P51681 VAR_011840 p.Leu55Gln Polymorphism rs1799863 - CCR5 P51681 VAR_011841 p.Arg60Ser Polymorphism rs1800940 - CCR5 P51681 VAR_011842 p.Arg223Gln Polymorphism rs1800452 - CCR5 P51681 VAR_011843 p.Gly301Val Polymorphism rs1800943 - CCR5 P51681 VAR_012481 p.Cys178Arg Unclassified - - CCR5 P51681 VAR_024066 p.Ile12Leu Polymorphism - - CCR5 P51681 VAR_024067 p.Cys20Ser Polymorphism - - CCR5 P51681 VAR_024068 p.Ile42Phe Polymorphism - - CCR5 P51681 VAR_024069 p.Ala73Val Polymorphism rs56198941 - CCR5 P51681 VAR_024070 p.Ser215Leu Polymorphism - - CCR7 P32248 VAR_049383 p.Met7Val Polymorphism rs45521932 - CCR8 P51685 VAR_049384 p.Ala27Gly Polymorphism rs2853699 - CCR9 P51686 VAR_020068 p.Met284Val Polymorphism rs12721497 - CCR9 P51686 VAR_029208 p.Ile92Val Polymorphism rs45530037 - CCRL2 O00421 VAR_026488 p.Phe167Tyr Polymorphism rs3204849 - CCRL2 O00421 VAR_026489 p.Val168Met Polymorphism rs6441977 - CCRL2 O00421 VAR_026490 p.Ile243Val Polymorphism rs3204850 - CCRL2 O00421 VAR_049385 p.Tyr4Cys Polymorphism rs11574443 - CCRN4L Q9UK39 VAR_047096 p.His140Tyr Polymorphism rs2271777 - CCSAP Q6IQ19 VAR_059594 p.Ala123Val Polymorphism rs6587326 - CCSER1 Q9C0I3 VAR_059336 p.Gly382Ser Polymorphism rs12647859 - CCSER2 Q9H7U1 VAR_036952 p.Asn84Ser Polymorphism rs3814205 - CCSER2 Q9H7U1 VAR_036953 p.Cys755Tyr Polymorphism rs11201058 - CCSER2 Q9H7U1 VAR_036954 p.Ser819Pro Polymorphism rs11557865 - CCSER2 Q9H7U1 VAR_036955 p.Pro821Ser Polymorphism rs12569751 - CCT3 P49368 VAR_052265 p.Leu391Phe Polymorphism rs2230194 - CCT4 P50991 VAR_052266 p.Ile112Val Polymorphism rs2272428 - CCT5 P48643 VAR_030658 p.His147Arg Disease - Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840] CCT5 P48643 VAR_052267 p.Glu146Val Polymorphism rs11557652 - CCT6A P40227 VAR_052268 p.Tyr229Cys Polymorphism rs33922584 - CCT6B Q92526 VAR_057269 p.Gly247Ala Polymorphism rs2230553 - CCT6B Q92526 VAR_060297 p.Arg17Gln Polymorphism rs9635769 - CCT6B Q92526 VAR_060298 p.Val48Ala Polymorphism rs2230552 - CCT7 Q99832 VAR_052269 p.Thr259Ala Polymorphism rs2231427 - CCT8L1P A6NM43 VAR_046039 p.Cys217Ser Polymorphism rs6969304 - CCT8L1P A6NM43 VAR_046040 p.Asp308Asn Polymorphism rs12672139 - CCT8L1P A6NM43 VAR_046041 p.Ser395Gly Polymorphism rs6953943 - CCT8L2 Q96SF2 VAR_046042 p.Trp320Arg Polymorphism rs2236639 - CCT8 P50990 VAR_052270 p.His4Gln Polymorphism rs16983693 - CCT8 P50990 VAR_052271 p.Val409Ile Polymorphism rs8129954 - CD101 Q93033 VAR_028371 p.Asn225Ser Polymorphism rs3754112 - CD101 Q93033 VAR_028372 p.Met415Val Polymorphism rs2249265 - CD101 Q93033 VAR_028373 p.Arg518Gln Polymorphism rs17235766 - CD101 Q93033 VAR_028374 p.Ser525Arg Polymorphism rs17235773 - CD101 Q93033 VAR_028375 p.Val965Ile Polymorphism rs12097758 - CD101 Q93033 VAR_028376 p.Arg988Cys Polymorphism rs12067543 - CD101 Q93033 VAR_054434 p.Gly157Ser Polymorphism rs34999087 - CD101 Q93033 VAR_054435 p.Thr631Ser Polymorphism rs34510762 - CD101 Q93033 VAR_054436 p.Arg933Gln Polymorphism rs12093834 - CD101 Q93033 VAR_054437 p.Leu955Phe Polymorphism rs34223095 - CD101 Q93033 VAR_054438 p.Arg992Trp Polymorphism rs34248572 - CD109 Q6YHK3 VAR_028875 p.Gly45Val Polymorphism rs9446983 - CD109 Q6YHK3 VAR_028876 p.Tyr703Ser Polymorphism rs10455097 - CD109 Q6YHK3 VAR_028877 p.Asn797Ser Polymorphism rs2351528 - CD109 Q6YHK3 VAR_028878 p.Val845Ile Polymorphism rs5023688 - CD109 Q6YHK3 VAR_028879 p.Thr1241Met Polymorphism rs2917862 - CD109 Q6YHK3 VAR_036236 p.Gln1007Glu Unclassified - A colorectal cancer sample CD109 Q6YHK3 VAR_036237 p.Asn1065Lys Unclassified - A colorectal cancer sample CD109 Q6YHK3 VAR_048105 p.Gly377Asp Polymorphism rs7741152 - CD109 Q6YHK3 VAR_048106 p.Leu641Phe Polymorphism rs7742662 - CD109 Q6YHK3 VAR_048107 p.Val1009Met Polymorphism rs35630075 - CD109 Q6YHK3 VAR_048108 p.His1296Arg Polymorphism rs13207595 - CD14 P08571 VAR_024302 p.Asn204Asp Polymorphism rs2228049 - CD14 P08571 VAR_050771 p.Glu341Lys Polymorphism rs11556179 - CD151 P48509 VAR_012490 p.Lys132Arg Polymorphism rs55840993 - CD151 P48509 VAR_012491 p.Pro137Ser Polymorphism rs55841393 - CD151 P48509 VAR_021153 p.Arg178His Polymorphism - - CD151 P48509 VAR_025098 p.Thr120Met Polymorphism rs34215390 - CD160 O95971 VAR_027747 p.Ile91Val Polymorphism rs2231373 - CD163L1 Q9NR16 VAR_057206 p.Asp578Asn Polymorphism rs4072797 - CD163L1 Q9NR16 VAR_057207 p.Gly582Ala Polymorphism rs4072796 - CD163L1 Q9NR16 VAR_057208 p.Gly1055Ser Polymorphism rs36206713 - CD163L1 Q9NR16 VAR_057209 p.Met1108Thr Polymorphism rs35480970 - CD163L1 Q9NR16 VAR_059810 p.Leu523Met Polymorphism rs6488268 - CD163 Q86VB7 VAR_026574 p.Ile342Val Polymorphism rs4883263 - CD164L2 Q6UWJ8 VAR_057508 p.Met76Val Polymorphism rs2504779 - CD177 Q8N6Q3 VAR_025858 p.Ala3Pro Polymorphism rs45441892 - CD177 Q8N6Q3 VAR_025859 p.Leu251Ile Polymorphism rs10425835 - CD177 Q8N6Q3 VAR_025860 p.Ala348Thr Polymorphism rs17856829 - CD177 Q8N6Q3 VAR_026156 p.Leu119Phe Polymorphism - - CD177 Q8N6Q3 VAR_026157 p.Arg323Gln Polymorphism - - CD177 Q8N6Q3 VAR_026158 p.Phe379Ser Polymorphism - - CD180 Q99467 VAR_021978 p.Asn53Lys Polymorphism rs16875312 - CD180 Q99467 VAR_021979 p.Ser99Arg Polymorphism rs2230520 - CD180 Q99467 VAR_057298 p.Val20Leu Polymorphism rs5744463 - CD180 Q99467 VAR_057299 p.Asp259Asn Polymorphism rs5744525 - CD180 Q99467 VAR_057300 p.Thr430Ala Polymorphism rs2230523 - CD180 Q99467 VAR_057301 p.Phe648Leu Polymorphism rs2230524 - CD180 Q99467 VAR_061859 p.Val356Met Polymorphism rs56752081 - CD19 P15391 VAR_026963 p.Leu174Val Polymorphism rs2904880 - CD19 P15391 VAR_036987 p.Arg514His Polymorphism rs34763945 - CD1A P06126 VAR_010209 p.Thr30Ile Polymorphism rs2269714 - CD1A P06126 VAR_010210 p.Cys68Trp Polymorphism rs2269715 - CD1A P06126 VAR_062522 p.Lys22Asn Polymorphism rs3087217 - CD1C P29017 VAR_031564 p.Asn70Thr Polymorphism rs3138100 - CD1C P29017 VAR_031565 p.Phe300Ser Polymorphism rs3138105 - CD1D P15813 VAR_010211 p.Thr64Ser Polymorphism - - CD1E P15812 VAR_010191 p.Gln106Arg Polymorphism rs1065457 - CD1E P15812 VAR_010192 p.Arg164Trp Polymorphism - - CD1E P15812 VAR_010193 p.Leu194Pro Polymorphism - - CD1E P15812 VAR_056035 p.Gly15Glu Polymorphism rs3180089 - CD1E P15812 VAR_058324 p.His102Arg Polymorphism rs2873587 - CD1E P15812 VAR_058325 p.Ser149Asn Polymorphism rs35116276 - CD200 P41217 VAR_027605 p.Ser11Cys Polymorphism rs1131199 - CD200 P41217 VAR_027606 p.Pro46Thr Polymorphism rs2272022 - CD200 P41217 VAR_056110 p.Val76Gly Polymorphism rs35465733 - CD200R1L Q6Q8B3 VAR_045897 p.Arg113Leu Polymorphism rs4682119 - CD200R1 Q8TD46 VAR_014352 p.Arg89Lys Polymorphism rs2171509 - CD200R1 Q8TD46 VAR_014353 p.Pro121Thr Polymorphism rs4596117 - CD200R1 Q8TD46 VAR_014354 p.Gln177His Polymorphism rs9826308 - CD200R1 Q8TD46 VAR_031022 p.Glu312Gln Polymorphism rs9865242 - CD207 Q9UJ71 VAR_054781 p.Ala55Val Polymorphism rs10489990 - CD207 Q9UJ71 VAR_054782 p.Pro213Ser Polymorphism rs17006436 - CD207 Q9UJ71 VAR_054783 p.Val278Ala Polymorphism rs741326 - CD207 Q9UJ71 VAR_054784 p.Asn288Asp Polymorphism rs13383830 - CD207 Q9UJ71 VAR_056151 p.Gln136Glu Polymorphism rs17718987 - CD207 Q9UJ71 VAR_059448 p.Ala300Pro Polymorphism rs2080391 - CD207 Q9UJ71 VAR_063828 p.Trp264Arg Disease - Birbeck granule deficiency (BIRGD) [MIM:613393] CD209 Q9NNX6 VAR_036689 p.Glu214Asp Polymorphism rs11465377 - CD209 Q9NNX6 VAR_036690 p.Leu242Val Polymorphism rs11465380 - CD209 Q9NNX6 VAR_050104 p.Glu168Asp Polymorphism rs11465377 - CD209 Q9NNX6 VAR_050105 p.Ala382Ser Polymorphism rs11465393 - CD226 Q15762 VAR_018632 p.Ser307Gly Polymorphism rs763361 - CD22 P20273 VAR_003913 p.Gln152Glu Unclassified - - CD22 P20273 VAR_003914 p.Ser664Gly Polymorphism rs17719289 - CD22 P20273 VAR_003915 p.Arg669Cys Polymorphism - - CD22 P20273 VAR_003916 p.Gly745Asp Polymorphism rs10406069 - CD22 P20273 VAR_014133 p.Ala34Thr Polymorphism - - CD22 P20273 VAR_014134 p.Glu203Lys Polymorphism - - CD22 P20273 VAR_014135 p.Tyr639His Polymorphism rs1058407 - CD22 P20273 VAR_049903 p.Gly551Arg Polymorphism rs35715143 - CD244 Q9BZW8 VAR_056036 p.Asn89Asp Polymorphism rs34846692 - CD244 Q9BZW8 VAR_056037 p.Ser323Phe Polymorphism rs12064925 - CD248 Q9HCU0 VAR_025013 p.His457Arg Polymorphism rs3741367 - CD248 Q9HCU0 VAR_036399 p.Leu6Phe Unclassified - A colorectal cancer sample CD24 P25063 VAR_016156 p.Ala57Val Polymorphism rs8734 - CD24 P25063 VAR_031576 p.Thr44Ser Polymorphism rs10465460 - CD276 Q5ZPR3 VAR_049857 p.Pro97Leu Polymorphism rs7173448 - CD276 Q5ZPR3 VAR_049858 p.Arg111Ser Polymorphism rs7173476 - CD276 Q5ZPR3 VAR_049859 p.Gln137Leu Polymorphism rs11574477 - CD276 Q5ZPR3 VAR_049860 p.Thr160Met Polymorphism rs11574479 - CD276 Q5ZPR3 VAR_049861 p.Arg267His Polymorphism rs11574483 - CD276 Q5ZPR3 VAR_049862 p.Ala279Thr Polymorphism rs10083681 - CD276 Q5ZPR3 VAR_049863 p.Pro315Leu Polymorphism rs7173448 - CD276 Q5ZPR3 VAR_049864 p.Arg329Ser Polymorphism rs7173476 - CD276 Q5ZPR3 VAR_049865 p.Thr378Met Polymorphism rs11574479 - CD27 P26842 VAR_016148 p.Ala59Thr Polymorphism rs25680 - CD27 P26842 VAR_052348 p.His233Arg Polymorphism rs2532502 - CD2AP Q9Y5K6 VAR_033672 p.Asn581Lys Polymorphism rs34069459 - CD2BP2 O95400 VAR_050772 p.Gly231Asp Polymorphism rs13330462 - CD2BP2 O95400 VAR_050773 p.Thr262Ile Polymorphism rs34391305 - CD2 P06729 VAR_017104 p.His266Gln Polymorphism rs699738 - CD2 P06729 VAR_033608 p.His339Asn Polymorphism rs35880225 - CD2 P06729 VAR_035504 p.Cys217Tyr Unclassified - A breast cancer sample CD300A Q9UGN4 VAR_030797 p.Arg111Gln Polymorphism rs2272111 - CD300C Q08708 VAR_039133 p.Thr71Ile Polymorphism rs11870245 - CD300E Q496F6 VAR_039129 p.Lys19Thr Polymorphism rs581157 - CD300E Q496F6 VAR_039130 p.Thr27Ala Unclassified - A colorectal cancer sample CD300E Q496F6 VAR_039131 p.Gly158Arg Polymorphism rs1878061 - CD300LD Q6UXZ3 VAR_059386 p.Ser6Ala Polymorphism rs493430 - CD300LD Q6UXZ3 VAR_059387 p.Val89Met Polymorphism rs783239 - CD300LF Q8TDQ1 VAR_027152 p.Gln218Arg Polymorphism rs2034310 - CD300LF Q8TDQ1 VAR_039128 p.Val19Ala Polymorphism rs35489971 - CD300LG Q6UXG3 VAR_035261 p.Asp221Asn Polymorphism rs17852267 - CD300LG Q6UXG3 VAR_035262 p.Thr228Ala Polymorphism rs12453522 - CD302 Q8IX05 VAR_050101 p.Arg200Ser Polymorphism rs34068933 - CD320 Q9NPF0 VAR_047315 p.Gln8Arg Polymorphism rs2232775 - CD320 Q9NPF0 VAR_047316 p.Gly220Arg Polymorphism rs2336573 - CD33 P20138 VAR_028260 p.Arg69Gly Polymorphism rs2455069 - CD33 P20138 VAR_028261 p.Arg202Trp Polymorphism rs4082929 - CD33 P20138 VAR_028262 p.Ile242Leu Polymorphism rs988337 - CD33 P20138 VAR_028263 p.Phe243Leu Polymorphism rs11882250 - CD33 P20138 VAR_028264 p.Val294Leu Polymorphism rs2271652 - CD33 P20138 VAR_049904 p.Ala14Val Polymorphism rs12459419 - CD33 P20138 VAR_049905 p.Trp22Arg Polymorphism rs35814802 - CD33 P20138 VAR_049906 p.Ser128Asn Polymorphism rs34919259 - CD33 P20138 VAR_049907 p.Gly304Arg Polymorphism rs35112940 - CD33 P20138 VAR_049908 p.Thr331Ala Polymorphism rs35632246 - CD33 P20138 VAR_061319 p.Val267Ile Polymorphism rs58981829 - CD34 P28906 VAR_050774 p.Ala367Ser Polymorphism rs28362497 - CD36 P16671 VAR_013918 p.Val154Phe Polymorphism rs5957 - CD36 P16671 VAR_017913 p.Pro90Ser Disease rs3765187 Platelet glycoprotein IV deficiency (PG4D) [MIM:608404] CD36 P16671 VAR_017914 p.Glu123Lys Unclassified - - CD36 P16671 VAR_017915 p.Thr174Ala Unclassified - - CD36 P16671 VAR_017917 p.Phe254Leu Disease - Platelet glycoprotein IV deficiency (PG4D) [MIM:608404] CD36 P16671 VAR_017918 p.Ile271Thr Unclassified - - CD36 P16671 VAR_017919 p.Ile413Leu Disease - Platelet glycoprotein IV deficiency (PG4D) [MIM:608404] CD36 P16671 VAR_019049 p.Ser127Leu Polymorphism - - CD38 P28907 VAR_001323 p.Arg140Trp Polymorphism rs1800561 - CD3D P04234 VAR_049646 p.Gln147Arg Polymorphism rs45510201 - CD3EAP O15446 VAR_051875 p.Lys259Thr Polymorphism rs735482 - CD3EAP O15446 VAR_051876 p.Thr282Ala Polymorphism rs3212989 - CD3EAP O15446 VAR_051877 p.Lys373Glu Polymorphism rs762562 - CD3EAP O15446 VAR_051878 p.Asp394Asn Polymorphism rs2336219 - CD3EAP O15446 VAR_051879 p.Lys503Gln Polymorphism rs3212986 - CD3EAP O15446 VAR_051880 p.Gln504Lys Polymorphism rs3212986 - CD3G P09693 VAR_049854 p.Val131Phe Polymorphism rs3753058 - CD40LG P29965 VAR_007513 p.Met36Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007514 p.Ala123Glu Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007515 p.Val126Ala Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007517 p.Trp140Cys Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007518 p.Trp140Gly Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007519 p.Trp140Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007520 p.Gly144Glu Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007521 p.Leu155Pro Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007522 p.Thr211Asn Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007523 p.Gly219Arg Polymorphism - - CD40LG P29965 VAR_007524 p.Gly227Val Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007526 p.Leu231Ser Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007527 p.Ala235Pro Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_007528 p.Thr254Met Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017922 p.Thr147Asn Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017923 p.Tyr170Cys Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017924 p.Leu258Ser Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017925 p.Gly38Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017926 p.His125Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017927 p.Gln174Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017928 p.Gly257Ser Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017929 p.Gly116Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017930 p.Gly116Ser Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017931 p.Val126Asp Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017932 p.Lys143Thr Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017933 p.Ala173Asp Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017934 p.Thr176Ile Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017935 p.Leu195Pro Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017936 p.Ala208Asp Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017937 p.His224Tyr Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017938 p.Gly226Ala Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017939 p.Val237Glu Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40LG P29965 VAR_017940 p.Gly257Asp Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] CD40 P25942 VAR_013628 p.Cys83Arg Disease rs28931586 Immunodeficiency with hyper-IgM type 3 (HIGM3) [MIM:606843] CD40 P25942 VAR_018751 p.Ser124Leu Polymorphism rs11569321 - CD40 P25942 VAR_018752 p.Pro227Ala Polymorphism rs11086998 - CD40 P25942 VAR_039301 p.Cys26Gln Unclassified - Bladder carcinoma cell line Hu549 CD40 P25942 VAR_039302 p.Ser35Gly Unclassified - Bladder carcinoma cell line Hu549 CD40 P25942 VAR_039303 p.Ser39Thr Unclassified - Bladder carcinoma cell line Hu549 CD44 P16070 VAR_006490 p.Arg46Pro Polymorphism - - CD44 P16070 VAR_021147 p.Lys417Arg Polymorphism rs9666607 - CD44 P16070 VAR_030325 p.Thr393Met Polymorphism rs11607491 - CD44 P16070 VAR_030326 p.Ile479Thr Polymorphism rs1467558 - CD44 P16070 VAR_030327 p.Asp494His Polymorphism rs12273397 - CD46 P15529 VAR_022262 p.Asp266Asn Polymorphism rs17006830 - CD46 P15529 VAR_022263 p.Pro324Leu Polymorphism rs41317833 - CD46 P15529 VAR_022264 p.Ala353Val Polymorphism rs35366573 - CD46 P15529 VAR_022265 p.Val355Gly Polymorphism - - CD46 P15529 VAR_026567 p.Ser13Phe Polymorphism - - CD46 P15529 VAR_026568 p.Arg59Gln Polymorphism - - CD46 P15529 VAR_026569 p.Pro165Ser Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] CD46 P15529 VAR_026570 p.Ser240Pro Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] CD46 P15529 VAR_035828 p.Cys228Tyr Unclassified - A colorectal cancer sample CD46 P15529 VAR_063656 p.Cys35Tyr Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] CD46 P15529 VAR_063657 p.Trp216Cys Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] CD46 P15529 VAR_063658 p.Pro231Arg Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] CD48 P09326 VAR_020082 p.Glu102Gln Polymorphism rs2295615 - CD48 P09326 VAR_049909 p.Leu241Ser Polymorphism rs16832307 - CD4 P01730 VAR_003906 p.Arg265Trp Polymorphism rs28919570 - CD4 P01730 VAR_023459 p.Lys191Glu Polymorphism rs28917504 - CD4 P01730 VAR_023460 p.Phe227Ser Polymorphism rs11064419 - CD52 P31358 VAR_014838 p.Ile41Met Polymorphism rs17645 - CD52 P31358 VAR_050775 p.Asn40Ser Polymorphism rs1071849 - CD55 P08174 VAR_001997 p.Arg52Leu Polymorphism rs28371588 - CD55 P08174 VAR_001998 p.Arg52Pro Polymorphism - - CD55 P08174 VAR_001999 p.Leu82Arg Polymorphism - - CD55 P08174 VAR_002000 p.Ser199Leu Polymorphism rs56283594 - CD55 P08174 VAR_002001 p.Ala227Pro Polymorphism rs60822373 - CD55 P08174 VAR_015884 p.Arg240His Polymorphism - - CD58 P19256 VAR_049885 p.Ser15Gly Polymorphism rs17426456 - CD5L O43866 VAR_033728 p.Asp117Glu Polymorphism rs11537583 - CD5 P06127 VAR_020411 p.Pro224Leu Polymorphism rs2241002 - CD5 P06127 VAR_024649 p.His461Arg Polymorphism rs637186 - CD5 P06127 VAR_058203 p.Ala471Val Polymorphism rs2229177 - CD68 P34810 VAR_016144 p.Gln254Lys Polymorphism rs25679 - CD68 P34810 VAR_016145 p.Ala340Thr Polymorphism rs17607 - CD68 P34810 VAR_049725 p.Ile329Thr Polymorphism rs35452170 - CD68 P34810 VAR_049726 p.Ala350Thr Polymorphism rs9901675 - CD6 P30203 VAR_057202 p.Arg225Trp Polymorphism rs11230563 - CD6 P30203 VAR_057203 p.Ala271Thr Polymorphism rs12360861 - CD6 P30203 VAR_057204 p.Ser351Asn Polymorphism rs34974368 - CD6 P30203 VAR_057205 p.Gly606Ser Polymorphism rs2074233 - CD6 P30203 VAR_059809 p.Thr217Met Polymorphism rs11230562 - CD6 P30203 VAR_060790 p.Ala257Val Polymorphism rs2074225 - CD72 P21854 VAR_033729 p.Pro234Leu Polymorphism rs34791102 - CD79B P40259 VAR_057833 p.Gly137Ser Disease - Agammaglobulinemia type 6 (AGM6) [MIM:612692] CD7 P09564 VAR_049855 p.Thr113Ala Polymorphism rs34579511 - CD82 P27701 VAR_052326 p.Ile241Val Polymorphism rs1139971 - CD83 Q01151 VAR_033609 p.Arg182Gln Polymorphism rs2230193 - CD86 P42081 VAR_014650 p.Ala310Thr Polymorphism rs1129055 - CD86 P42081 VAR_021916 p.Ser170Asn Polymorphism rs9282642 - CD86 P42081 VAR_021917 p.Asp323Asn Polymorphism rs9282648 - CD86 P42081 VAR_055003 p.Val185Ile Polymorphism rs2681417 - CD8A P01732 VAR_021020 p.Gly111Ser Disease - Familial CD8 deficiency (CD8 deficiency) [MIM:608957] CD93 Q9NPY3 VAR_013573 p.Val318Ala Polymorphism - - CD93 Q9NPY3 VAR_036400 p.Ala220Val Unclassified - A colorectal cancer sample CD93 Q9NPY3 VAR_050102 p.Pro541Ser Polymorphism rs3746731 - CD96 P40200 VAR_021928 p.Ala142Pro Polymorphism rs2276872 - CD96 P40200 VAR_037578 p.Thr280Met Disease - C syndrome (CSYN) [MIM:211750] CD97 P48960 VAR_017760 p.Arg367Gln Polymorphism rs2230748 - CD99 P14209 VAR_014733 p.Met166Val Polymorphism rs11556080 - CD99 P14209 VAR_014734 p.Asn173Ile Polymorphism rs4717 - CDAN1 Q8IWY9 VAR_017218 p.Asn599Ser Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] CDAN1 Q8IWY9 VAR_017219 p.Pro672Leu Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] CDAN1 Q8IWY9 VAR_017220 p.Glu698Lys Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] CDAN1 Q8IWY9 VAR_017221 p.Arg714Trp Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] CDAN1 Q8IWY9 VAR_017222 p.Phe868Ile Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] CDAN1 Q8IWY9 VAR_017223 p.Val869Met Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] CDAN1 Q8IWY9 VAR_017224 p.Arg1042Trp Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] CDAN1 Q8IWY9 VAR_017225 p.Asp1043Val Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] CDAN1 Q8IWY9 VAR_017226 p.Pro1130Leu Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] CDAN1 Q8IWY9 VAR_056785 p.Gln596Arg Polymorphism rs12917189 - CDAN1 Q8IWY9 VAR_056786 p.Arg891Cys Polymorphism rs8023524 - CDAN1 Q8IWY9 VAR_059602 p.Gln107Leu Polymorphism rs4265781 - CDA P32320 VAR_021559 p.Lys27Gln Polymorphism rs2072671 - CDC14A Q9UNH5 VAR_019957 p.Arg345Gln Polymorphism rs28364897 - CDC14A Q9UNH5 VAR_019958 p.Ser589Phe Polymorphism rs28364923 - CDC14A Q9UNH5 VAR_035655 p.Asp493Tyr Unclassified - A colorectal cancer sample CDC14B O60729 VAR_019959 p.Ile302Thr Polymorphism rs16911114 - CDC14B O60729 VAR_019960 p.Ile341Thr Polymorphism rs16911075 - CDC14C A4D256 VAR_038327 p.Pro238Ser Polymorphism rs1615556 - CDC14C A4D256 VAR_038328 p.Ile296Leu Polymorphism rs421206 - CDC20B Q86Y33 VAR_043860 p.Thr8Pro Polymorphism rs173042 - CDC20B Q86Y33 VAR_043861 p.Glu17Lys Polymorphism rs423074 - CDC20B Q86Y33 VAR_043862 p.Thr97Ser Polymorphism rs34132993 - CDC20B Q86Y33 VAR_043863 p.Arg121Cys Polymorphism rs1021580 - CDC20B Q86Y33 VAR_043864 p.Ser496Ala Polymorphism rs3104230 - CDC20B Q86Y33 VAR_043865 p.Arg503Trp Polymorphism rs444527 - CDC20 Q12834 VAR_030368 p.Val402Met Polymorphism - - CDC20 Q12834 VAR_030369 p.Arg479Gln Polymorphism - - CDC23 Q9UJX2 VAR_019232 p.Glu78Gln Polymorphism rs17228304 - CDC23 Q9UJX2 VAR_024675 p.Pro9Leu Polymorphism rs2231471 - CDC25A P30304 VAR_020932 p.Ser88Phe Polymorphism rs3731499 - CDC25A P30304 VAR_023532 p.Arg182Gly Polymorphism rs6771386 - CDC25A P30304 VAR_023533 p.Arg182Trp Polymorphism rs6771386 - CDC25B P30305 VAR_020933 p.Glu548Lys Polymorphism rs11570019 - CDC25C P30307 VAR_020146 p.Gly297Arg Polymorphism rs11567997 - CDC25C P30307 VAR_027922 p.Ser14Asn Polymorphism rs11567959 - CDC25C P30307 VAR_027923 p.Arg70Cys Polymorphism rs3734166 - CDC25C P30307 VAR_027924 p.Ser78Asn Polymorphism rs11567962 - CDC27 P30260 VAR_014489 p.Tyr496His Polymorphism rs13666 - CDC27 P30260 VAR_035861 p.Gly270Ala Unclassified - A breast cancer sample CDC27 P30260 VAR_052613 p.Ser320Pro Polymorphism rs3208653 - CDC34 P49427 VAR_021277 p.Asp227His Polymorphism rs16990650 - CDC37L1 Q7L3B6 VAR_038755 p.Ser291Phe Polymorphism rs7036014 - CDC37 Q16543 VAR_022220 p.Gly360Glu Polymorphism rs280528 - CDC42BPA Q5VT25 VAR_040830 p.Glu50Lys Unclassified - A lung neuroendocrine carcinoma sample CDC42BPA Q5VT25 VAR_040831 p.Thr231Met Polymorphism rs34614709 - CDC42BPA Q5VT25 VAR_040832 p.Ile537Thr Polymorphism rs56364976 - CDC42BPA Q5VT25 VAR_040833 p.Ile1418Lys Polymorphism - - CDC42BPA Q5VT25 VAR_045583 p.Thr780Met Polymorphism rs56119119 - CDC42BPA Q5VT25 VAR_045584 p.Tyr790Cys Polymorphism rs34943764 - CDC42BPA Q5VT25 VAR_045585 p.Ala1148Thr Polymorphism - - CDC42BPA Q5VT25 VAR_045586 p.Arg1211His Polymorphism - - CDC42BPA Q5VT25 VAR_045587 p.Val1317Ile Polymorphism - - CDC42BPA Q5VT25 VAR_045588 p.Ala1469Val Polymorphism rs55687355 - CDC42BPA Q5VT25 VAR_045589 p.Thr1618Ala Polymorphism - - CDC42BPA Q5VT25 VAR_045590 p.Ala1699Val Polymorphism rs2802269 - CDC42BPA Q5VT25 VAR_057104 p.Ala1712Val Polymorphism rs2802269 - CDC42BPB Q9Y5S2 VAR_025847 p.Ile1077Val Polymorphism rs34822377 - CDC42BPB Q9Y5S2 VAR_040834 p.Lys500Glu Unclassified - A breast infiltrating ductal carcinoma sample CDC42BPB Q9Y5S2 VAR_040835 p.Arg555Gln Polymorphism rs36001612 - CDC42BPB Q9Y5S2 VAR_040836 p.Arg671Gln Polymorphism rs55948035 - CDC42BPB Q9Y5S2 VAR_040837 p.Arg876Trp Unclassified - A colorectal adenocarcinoma sample CDC42BPB Q9Y5S2 VAR_040838 p.Glu1315Lys Unclassified - A lung large cell carcinoma sample CDC42BPB Q9Y5S2 VAR_040839 p.Ser1633Tyr Polymorphism rs56412851 - CDC42BPG Q6DT37 VAR_040840 p.Pro168Leu Polymorphism rs34454471 - CDC42BPG Q6DT37 VAR_040841 p.Ser280Phe Unclassified - A glioblastoma multiforme sample CDC42BPG Q6DT37 VAR_040842 p.Thr362Pro Polymorphism rs55688429 - CDC42BPG Q6DT37 VAR_040843 p.Ala537Asp Polymorphism rs34241745 - CDC42BPG Q6DT37 VAR_057105 p.Gln1135Arg Polymorphism rs3741395 - CDC42EP2 O14613 VAR_023001 p.Asn176Ser Polymorphism rs4149839 - CDC42EP2 O14613 VAR_023002 p.Ile191Phe Polymorphism rs7120634 - CDC45 O75419 VAR_019286 p.Val81Ile Polymorphism rs13447203 - CDC45 O75419 VAR_019287 p.Val376Met Polymorphism rs13447263 - CDC45 O75419 VAR_053026 p.Met356Arg Polymorphism rs17209274 - CDC5L Q99459 VAR_050181 p.Tyr459Cys Polymorphism rs11572006 - CDC6 Q99741 VAR_019349 p.Thr238Ala Polymorphism rs4135010 - CDC6 Q99741 VAR_019350 p.Asp295Asn Polymorphism rs4135012 - CDC6 Q99741 VAR_019351 p.Thr299Met Polymorphism rs4135013 - CDC6 Q99741 VAR_019352 p.Arg378His Polymorphism rs4135016 - CDC6 Q99741 VAR_019353 p.Val441Ile Polymorphism rs13706 - CDC6 Q99741 VAR_065493 p.Thr323Arg Disease - Meier-Gorlin syndrome type 5 (MGORS5) [MIM:613805] CDC73 Q6P1J9 VAR_024082 p.Leu64Pro Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000] CDC73 Q6P1J9 VAR_031825 p.Leu384Pro Polymorphism rs35590728 - CDC73 Q6P1J9 VAR_064927 p.Ala2Ser Unclassified - - CDC73 Q6P1J9 VAR_064929 p.Lys34Gln Unclassified - - CDC73 Q6P1J9 VAR_064930 p.Ser59Phe Unclassified - - CDC73 Q6P1J9 VAR_064931 p.Leu63Pro Unclassified - - CDC73 Q6P1J9 VAR_064932 p.Arg91Pro Unclassified - - CDC73 Q6P1J9 VAR_064933 p.Leu95Pro Unclassified - - CDC73 Q6P1J9 VAR_064934 p.Asn272Ser Unclassified - - CDC73 Q6P1J9 VAR_064935 p.Arg292Lys Unclassified - - CDC73 Q6P1J9 VAR_064936 p.Asp379Asn Disease - Hyperparathyroidism-jaw tumor syndrome (HPT-JT) [MIM:145001] CDC7 O00311 VAR_019255 p.Gln23Pro Polymorphism rs13447459 - CDC7 O00311 VAR_019256 p.Ile99Val Polymorphism rs13447492 - CDC7 O00311 VAR_019257 p.Gly112Trp Polymorphism rs13447493 - CDC7 O00311 VAR_019258 p.Phe162Leu Polymorphism rs13447503 - CDC7 O00311 VAR_019259 p.Lys441Arg Polymorphism rs13447539 - CDC7 O00311 VAR_040403 p.Ile208Met Polymorphism rs34979509 - CDC7 O00311 VAR_040404 p.Glu209Asp Polymorphism rs56327502 - CDC7 O00311 VAR_040405 p.Thr472Ile Polymorphism rs56381770 - CDC7 O00311 VAR_040406 p.Ser498Ala Polymorphism rs35055915 - CDCA2 Q69YH5 VAR_032350 p.Val717Ile Polymorphism rs4872318 - CDCA2 Q69YH5 VAR_032351 p.Arg884Ser Polymorphism rs3829009 - CDCA5 Q96FF9 VAR_050777 p.Ser156Tyr Polymorphism rs34020666 - CDCA7L Q96GN5 VAR_050776 p.Arg187Ser Polymorphism rs35281045 - CDCA8 Q53HL2 VAR_027063 p.Lys12Asn Polymorphism rs17851453 - CDCP1 Q9H5V8 VAR_025498 p.Gln525Arg Polymorphism rs3749191 - CDCP1 Q9H5V8 VAR_025499 p.Asp709Gly Polymorphism rs9874077 - CDCP1 Q9H5V8 VAR_055095 p.Ala673Val Polymorphism rs35428731 - CDCP2 Q5VXM1 VAR_035162 p.Gly244Arg Polymorphism rs3766465 - CDH10 Q9Y6N8 VAR_028751 p.Ser413Phe Polymorphism rs1395027 - CDH10 Q9Y6N8 VAR_036102 p.Val371Leu Unclassified - A breast cancer sample CDH11 P55287 VAR_031945 p.Thr255Met Polymorphism rs35195 - CDH11 P55287 VAR_031946 p.Met275Ile Polymorphism rs1130821 - CDH11 P55287 VAR_031947 p.Ser373Ala Polymorphism rs35213 - CDH12 P55289 VAR_014917 p.Glu86Lys Polymorphism rs7236 - CDH12 P55289 VAR_048505 p.Val68Met Polymorphism rs4371716 - CDH12 P55289 VAR_048506 p.Ile284Val Polymorphism rs17328673 - CDH12 P55289 VAR_048507 p.Ile475Thr Polymorphism rs12108814 - CDH13 P55290 VAR_030632 p.Leu121Ser Polymorphism rs7197352 - CDH13 P55290 VAR_065747 p.Arg65Cys Unclassified - - CDH13 P55290 VAR_065748 p.Ala103Val Unclassified - - CDH13 P55290 VAR_065749 p.Gly113Arg Unclassified - - CDH13 P55290 VAR_065750 p.Arg246Trp Unclassified - - CDH13 P55290 VAR_065751 p.Glu367Gln Unclassified - - CDH13 P55290 VAR_065752 p.Ala376Thr Polymorphism rs35549391 - CDH13 P55290 VAR_065753 p.Leu643Arg Polymorphism rs34106627 - CDH15 P55291 VAR_054966 p.Val8Leu Unclassified - - CDH15 P55291 VAR_054967 p.Arg60Cys Disease - Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580] CDH15 P55291 VAR_054968 p.Arg92Trp Disease - Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580] CDH15 P55291 VAR_054969 p.Ala122Val Disease - Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580] CDH16 O75309 VAR_021870 p.Leu191Phe Polymorphism rs2271024 - CDH16 O75309 VAR_021871 p.His257Tyr Polymorphism rs2271023 - CDH16 O75309 VAR_061058 p.Arg717His Polymorphism rs34621310 - CDH17 Q12864 VAR_031694 p.Ile446Thr Polymorphism rs1131829 - CDH17 Q12864 VAR_031695 p.Glu734Asp Polymorphism rs1051623 - CDH17 Q12864 VAR_031696 p.Glu739Ala Polymorphism rs1051624 - CDH17 Q12864 VAR_055567 p.Lys115Glu Polymorphism rs2243518 - CDH1 P12830 VAR_001306 p.His123Tyr Unclassified - A gastric cancer sample CDH1 P12830 VAR_001307 p.Thr193Pro Unclassified - A diffuse gastric cancer sample CDH1 P12830 VAR_001309 p.Asn315Ser Unclassified - Lobular breast carcinoma CDH1 P12830 VAR_001310 p.Glu336Asp Polymorphism - - CDH1 P12830 VAR_001311 p.Asp370Ala Unclassified - A diffuse gastric cancer sample CDH1 P12830 VAR_001314 p.Glu463Gln Unclassified - A gastric carcinoma sample CDH1 P12830 VAR_001315 p.Thr470Ile Polymorphism - - CDH1 P12830 VAR_001317 p.Val473Asp Unclassified - A diffuse gastric cancer sample CDH1 P12830 VAR_001318 p.Ala592Thr Unclassified rs35187787 A thyroid cancer sample CDH1 P12830 VAR_001319 p.Arg598Gln Unclassified - A gastric cancer sample CDH1 P12830 VAR_001320 p.Ala617Thr Polymorphism rs33935154 - CDH1 P12830 VAR_001321 p.Leu711Val Unclassified - - CDH1 P12830 VAR_001322 p.Ser838Gly Unclassified - An ovarian carcinoma sample CDH1 P12830 VAR_008712 p.Asp244Gly Disease - Hereditary diffuse gastric cancer (HDGC) [MIM:137215] CDH1 P12830 VAR_008713 p.Val487Ala Disease - Hereditary diffuse gastric cancer (HDGC) [MIM:137215] CDH1 P12830 VAR_013970 p.Ser270Ala Unclassified - - CDH1 P12830 VAR_013971 p.Thr340Ala Unclassified - - CDH1 P12830 VAR_021868 p.Leu630Val Polymorphism rs2276331 - CDH1 P12830 VAR_021869 p.Cys695Arg Polymorphism rs9282655 - CDH1 P12830 VAR_023357 p.Leu478Pro Polymorphism rs35520415 - CDH1 P12830 VAR_023358 p.Val832Met Disease rs35572355 Hereditary diffuse gastric cancer (HDGC) [MIM:137215] CDH1 P12830 VAR_023359 p.Glu880Lys Polymorphism rs34507583 - CDH1 P12830 VAR_033026 p.Met282Ile Unclassified - A breast cancer sample CDH1 P12830 VAR_033027 p.Asp777Asn Unclassified - A breast cancer sample CDH1 P12830 VAR_048500 p.Asp72Asn Polymorphism rs35606263 - CDH1 P12830 VAR_048501 p.Ile393Asn Polymorphism rs34466743 - CDH1 P12830 VAR_048502 p.Val473Ile Polymorphism rs36087757 - CDH1 P12830 VAR_055431 p.Ala634Val Unclassified - - CDH20 Q9HBT6 VAR_036103 p.Met228Ile Unclassified - A breast cancer sample CDH20 Q9HBT6 VAR_036104 p.Pro416Thr Unclassified - A breast cancer sample CDH20 Q9HBT6 VAR_036105 p.Gln746His Unclassified - A breast cancer sample CDH20 Q9HBT6 VAR_039119 p.Pro328His Polymorphism rs1943330 - CDH20 Q9HBT6 VAR_039120 p.Gln371Arg Polymorphism rs35923922 - CDH20 Q9HBT6 VAR_039121 p.Pro391Leu Polymorphism rs17068463 - CDH23 Q9H251 VAR_012166 p.Arg3Cys Polymorphism rs7902757 - CDH23 Q9H251 VAR_012167 p.Gly490Ala Polymorphism rs1227049 - CDH23 Q9H251 VAR_012168 p.Ser496Asn Polymorphism rs10999947 - CDH23 Q9H251 VAR_012169 p.Asp990Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012170 p.Ala1222Thr Polymorphism rs41281316 - CDH23 Q9H251 VAR_012172 p.Arg1349Cys Polymorphism rs41281318 - CDH23 Q9H251 VAR_012173 p.Asn1351Asp Polymorphism rs1227065 - CDH23 Q9H251 VAR_012174 p.Gln1496His Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_012175 p.Ala1575Thr Polymorphism rs1227051 - CDH23 Q9H251 VAR_012176 p.Thr1671Ser Polymorphism - - CDH23 Q9H251 VAR_012177 p.Val1675Ile Polymorphism rs17712523 - CDH23 Q9H251 VAR_012178 p.Arg1746Gln Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_012179 p.Arg1804Gln Polymorphism rs3802711 - CDH23 Q9H251 VAR_012180 p.Thr1999Ser Polymorphism rs11592462 - CDH23 Q9H251 VAR_012181 p.Glu2044Lys Polymorphism rs10466026 - CDH23 Q9H251 VAR_012182 p.Asp2045Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012183 p.Asp2202Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012184 p.Arg2358Gln Polymorphism rs4747194 - CDH23 Q9H251 VAR_012185 p.Pro2380Leu Polymorphism rs4747195 - CDH23 Q9H251 VAR_012186 p.Glu2588Gln Polymorphism rs41281338 - CDH23 Q9H251 VAR_012187 p.Ile2950Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012188 p.Arg2956Cys Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012189 p.Pro3059Thr Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_012190 p.Phe3125Leu Polymorphism rs45583140 - CDH23 Q9H251 VAR_024030 p.Ala366Thr Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_024031 p.Thr1209Ala Disease rs41281314 Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_024032 p.Arg1507Gln Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_024033 p.Arg3189Trp Disease - Usher syndrome type 1D/F (USH1DF) [MIM:601067] CDH23 Q9H251 VAR_024033 p.Arg3189Trp Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_024034 p.Ser3245Phe Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027317 p.Asp124Gly Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027318 p.Glu247Lys Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027319 p.Asn452Ser Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027320 p.Leu480Gln Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027321 p.Ala484Pro Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027322 p.Arg582Gln Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027323 p.Arg1060Trp Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027324 p.Gly1186Asp Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027325 p.Pro1206Arg Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027326 p.Asp1341Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027327 p.Arg1437Gln Polymorphism rs56181447 - CDH23 Q9H251 VAR_027328 p.Ala1586Pro Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027329 p.Glu1595Lys Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027330 p.Val1620Met Polymorphism rs41281330 - CDH23 Q9H251 VAR_027331 p.Asp1846Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027332 p.Thr1887Ile Polymorphism - - CDH23 Q9H251 VAR_027333 p.Phe1888Ser Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027334 p.Gly2017Ser Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027335 p.Arg2066Gln Polymorphism - - CDH23 Q9H251 VAR_027336 p.Asp2148Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027337 p.Val2283Ile Polymorphism rs41281334 - CDH23 Q9H251 VAR_027338 p.Asp2376Asn Polymorphism rs9663920 - CDH23 Q9H251 VAR_027339 p.Arg2465Trp Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027340 p.Ser2517Gly Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027341 p.Arg2608His Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_027342 p.Gly2744Ser Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027343 p.Arg2833Gly Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_027344 p.Val2933Glu Polymorphism - - CDH23 Q9H251 VAR_027345 p.Asp2954Asn Polymorphism - - CDH23 Q9H251 VAR_027346 p.Asn2962Ser Polymorphism - - CDH23 Q9H251 VAR_027347 p.Arg3175His Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046404 p.Pro240Leu Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_046405 p.Arg301Gln Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_046406 p.Val746Ile Polymorphism - - CDH23 Q9H251 VAR_046407 p.His755Tyr Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046408 p.Ser944Gly Polymorphism - - CDH23 Q9H251 VAR_046409 p.Glu960Lys Polymorphism - - CDH23 Q9H251 VAR_046410 p.Val1090Ile Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046411 p.Asn1098Ser Disease rs41281310 Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046412 p.Arg1236Gln Polymorphism - - CDH23 Q9H251 VAR_046413 p.Asn1282Ser Polymorphism - - CDH23 Q9H251 VAR_046414 p.Arg1417Trp Polymorphism - - CDH23 Q9H251 VAR_046415 p.Ile1520Met Polymorphism - - CDH23 Q9H251 VAR_046416 p.Met1574Thr Polymorphism - - CDH23 Q9H251 VAR_046417 p.Val1711Ile Polymorphism - - CDH23 Q9H251 VAR_046418 p.Gln1716Pro Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_046419 p.Pro1788Leu Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046420 p.Val1807Met Polymorphism - - CDH23 Q9H251 VAR_046421 p.Ser1876Asn Polymorphism - - CDH23 Q9H251 VAR_046422 p.Val1908Ile Polymorphism - - CDH23 Q9H251 VAR_046423 p.Arg1912Trp Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046424 p.Asp1930Asn Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046425 p.Arg2029Trp Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] CDH23 Q9H251 VAR_046426 p.Ile2125Met Polymorphism rs16929354 - CDH23 Q9H251 VAR_046427 p.Arg2171Cys Polymorphism - - CDH23 Q9H251 VAR_046428 p.Gln2227Pro Polymorphism - - CDH23 Q9H251 VAR_046429 p.Asp2376Val Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046430 p.Leu2473Pro Polymorphism - - CDH23 Q9H251 VAR_046431 p.Arg2489His Polymorphism - - CDH23 Q9H251 VAR_046432 p.Thr2530Ile Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046433 p.Ile2669Val Polymorphism - - CDH23 Q9H251 VAR_046434 p.Gly2771Ser Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046435 p.Phe2801Val Polymorphism rs3802707 - CDH23 Q9H251 VAR_046436 p.Ala2853Gln Unclassified - - CDH23 Q9H251 VAR_046437 p.Val2968Ala Disease - Usher syndrome type 1D (USH1D) [MIM:601067] CDH23 Q9H251 VAR_046438 p.Arg3175Cys Polymorphism - - CDH26 Q8IXH8 VAR_055568 p.Ile144Thr Polymorphism rs6015609 - CDH26 Q8IXH8 VAR_055569 p.Arg301Gly Polymorphism rs11086690 - CDH26 Q8IXH8 VAR_055570 p.Val448Ala Polymorphism rs34866303 - CDH26 Q8IXH8 VAR_055571 p.Pro479Leu Polymorphism rs6071067 - CDH26 Q8IXH8 VAR_055572 p.Val615Leu Polymorphism rs194998 - CDH2 P19022 VAR_028254 p.Ala21Thr Polymorphism rs17495042 - CDH2 P19022 VAR_028255 p.Ala118Thr Polymorphism rs17445840 - CDH2 P19022 VAR_028256 p.Ser196Thr Polymorphism rs1041970 - CDH2 P19022 VAR_028257 p.Ile212Leu Polymorphism rs1041972 - CDH2 P19022 VAR_028258 p.Asn845Ser Polymorphism rs2289664 - CDH2 P19022 VAR_048503 p.Thr454Ala Polymorphism rs17857112 - CDH3 P22223 VAR_015422 p.Arg503His Disease - Hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553] CDH3 P22223 VAR_031929 p.Val237Met Polymorphism rs17854171 - CDH3 P22223 VAR_031930 p.Arg477His Polymorphism rs34494880 - CDH3 P22223 VAR_031931 p.Gln563His Polymorphism rs1126933 - CDH3 P22223 VAR_033010 p.Asn322Ile Disease - Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM) [MIM:225280] CDH4 P55283 VAR_033699 p.Lys625Arg Polymorphism rs6142884 - CDH4 P55283 VAR_048504 p.Ala141Val Polymorphism rs34937312 - CDH5 P33151 VAR_028003 p.Ile503Thr Polymorphism rs16956504 - CDH5 P33151 VAR_028004 p.Ile517Thr Polymorphism rs1049970 - CDH7 Q9ULB5 VAR_060247 p.Asn576Ser Polymorphism rs2291343 - CDH7 Q9ULB5 VAR_061057 p.Asp370Glu Polymorphism rs2306675 - CDH9 Q9ULB4 VAR_029799 p.Tyr6Cys Polymorphism rs2288467 - CDH9 Q9ULB4 VAR_029800 p.Ala38Val Polymorphism rs2288466 - CDHR1 Q96JP9 VAR_038744 p.His53Gln Polymorphism rs12781048 - CDHR1 Q96JP9 VAR_038745 p.Ala212Thr Polymorphism - - CDHR1 Q96JP9 VAR_038746 p.Ala243Val Polymorphism rs7086200 - CDHR1 Q96JP9 VAR_038747 p.Pro532Ala Polymorphism - - CDHR2 Q9BYE9 VAR_021548 p.Leu1164Met Polymorphism rs17078347 - CDHR2 Q9BYE9 VAR_046695 p.Gln107His Polymorphism rs6886860 - CDHR2 Q9BYE9 VAR_046696 p.Ala415Gly Polymorphism rs3762960 - CDHR2 Q9BYE9 VAR_046697 p.Val424Ala Polymorphism rs11134982 - CDHR2 Q9BYE9 VAR_046698 p.Leu766Pro Polymorphism rs752138 - CDHR2 Q9BYE9 VAR_046699 p.Thr901Met Polymorphism rs35018750 - CDHR2 Q9BYE9 VAR_046700 p.Val948Met Polymorphism rs3749625 - CDHR2 Q9BYE9 VAR_046701 p.Thr1128Met Polymorphism rs2291442 - CDHR2 Q9BYE9 VAR_054148 p.Pro1004Leu Unclassified - An acute myeloid leukemia sample CDHR3 Q6ZTQ4 VAR_035228 p.Val55Met Polymorphism rs35008315 - CDHR3 Q6ZTQ4 VAR_035229 p.Gln61His Polymorphism rs34426483 - CDHR3 Q6ZTQ4 VAR_035230 p.Cys529Tyr Polymorphism rs6967330 - CDHR4 A6H8M9 VAR_039109 p.Arg5Lys Polymorphism rs13072748 - CDHR5 Q9HBB8 VAR_017920 p.Arg357Ser Polymorphism rs2246614 - CDHR5 Q9HBB8 VAR_017921 p.Asp389Asn Polymorphism rs2306066 - CDHR5 Q9HBB8 VAR_059192 p.Cys702Ser Polymorphism rs2740379 - CDHR5 Q9HBB8 VAR_060412 p.Gln165Pro Polymorphism rs2740374 - CDHR5 Q9HBB8 VAR_060413 p.Pro521Ser Polymorphism rs2740375 - CDIPT O14735 VAR_048734 p.Arg199Cys Polymorphism rs1802002 - CDK10 Q15131 VAR_041983 p.Pro96Leu Polymorphism - - CDK10 Q15131 VAR_041984 p.Asn168Ser Polymorphism rs56340740 - CDK10 Q15131 VAR_041985 p.Arg342His Polymorphism rs55757604 - CDK10 Q15131 VAR_041986 p.Cys358Tyr Polymorphism rs56242003 - CDK11A Q9UQ88 VAR_031716 p.Arg93Trp Polymorphism rs1059831 - CDK11A Q9UQ88 VAR_031717 p.Leu402Ser Polymorphism rs1059828 - CDK11A Q9UQ88 VAR_060152 p.Cys57Arg Polymorphism rs17424353 - CDK11A Q9UQ88 VAR_060153 p.Val658Ala Polymorphism rs1059811 - CDK11A Q9UQ88 VAR_062200 p.Ser92Pro Polymorphism rs7531938 - CDK11B P21127 VAR_041958 p.Arg57Cys Polymorphism rs17424353 - CDK11B P21127 VAR_041959 p.Arg201Trp Polymorphism - - CDK11B P21127 VAR_041960 p.Ser414Leu Polymorphism - - CDK11B P21127 VAR_041961 p.Ile463Val Polymorphism - - CDK11B P21127 VAR_041962 p.Leu601Gln Polymorphism - - CDK11B P21127 VAR_041963 p.Lys641Asn Polymorphism - - CDK11B P21127 VAR_041964 p.Ala670Val Polymorphism rs1059811 - CDK11B P21127 VAR_045577 p.Val452Ala Polymorphism - - CDK11B P21127 VAR_045578 p.Gly506Ser Polymorphism - - CDK11B P21127 VAR_057775 p.Arg93Trp Polymorphism rs1059831 - CDK11B P21127 VAR_062199 p.Arg109Cys Polymorphism rs1059830 - CDK12 Q9NYV4 VAR_041968 p.Pro530Ala Polymorphism rs56121596 - CDK12 Q9NYV4 VAR_041969 p.Arg912His Unclassified - A colorectal adenocarcinoma sample CDK12 Q9NYV4 VAR_041970 p.Leu1189Gln Polymorphism rs56362165 - CDK12 Q9NYV4 VAR_041971 p.Pro1275Leu Polymorphism rs34070318 - CDK13 Q14004 VAR_022381 p.Pro356Ala Polymorphism rs17537669 - CDK13 Q14004 VAR_022382 p.Leu403Phe Polymorphism rs3735137 - CDK13 Q14004 VAR_022383 p.Arg410Gln Polymorphism rs17496261 - CDK13 Q14004 VAR_022384 p.Thr500Ala Polymorphism rs3735135 - CDK13 Q14004 VAR_022385 p.Ser624Gly Polymorphism rs17496275 - CDK13 Q14004 VAR_022386 p.Arg700Leu Polymorphism rs1057000 - CDK13 Q14004 VAR_022387 p.Val1062Met Polymorphism rs17496712 - CDK13 Q14004 VAR_041965 p.Thr494Ala Polymorphism rs34624759 - CDK13 Q14004 VAR_041966 p.Thr670Arg Polymorphism rs34775357 - CDK13 Q14004 VAR_041967 p.Val1170Met Polymorphism rs3204309 - CDK13 Q14004 VAR_053926 p.Ser340Phe Polymorphism rs13622 - CDK14 O94921 VAR_046765 p.Met432Ile Unclassified - An ovarian mucinous carcinoma CDK14 O94921 VAR_046766 p.Ser463Arg Polymorphism - - CDK15 Q96Q40 VAR_042016 p.Arg64Gly Polymorphism rs34776344 - CDK15 Q96Q40 VAR_042017 p.Lys93Glu Unclassified - A renal clear cell carcinoma sample CDK15 Q96Q40 VAR_042018 p.Gln127Arg Polymorphism rs56135556 - CDK15 Q96Q40 VAR_042019 p.Thr255Ile Polymorphism rs34851370 - CDK15 Q96Q40 VAR_042020 p.Glu276Asp Unclassified - A breast infiltrating ductal carcinoma sample CDK17 Q00537 VAR_064743 p.Thr214Ile Unclassified - - CDK18 Q07002 VAR_047802 p.Gly46Ser Polymorphism - - CDK18 Q07002 VAR_047803 p.Gly65Arg Polymorphism - - CDK18 Q07002 VAR_047804 p.Thr164Met Polymorphism - - CDK20 Q8IZL9 VAR_024762 p.Ser86Leu Polymorphism rs28364953 - CDK20 Q8IZL9 VAR_024763 p.Ala137Thr Polymorphism rs28364955 - CDK20 Q8IZL9 VAR_024764 p.Lys281Arg Polymorphism rs28364963 - CDK20 Q8IZL9 VAR_041957 p.Ser106Asn Polymorphism rs41286029 - CDK2 P24941 VAR_016157 p.Tyr15Ser Polymorphism rs3087335 - CDK2 P24941 VAR_019988 p.Thr290Ser Polymorphism rs2069413 - CDK2 P24941 VAR_041972 p.Pro45Leu Unclassified - A glioblastoma multiforme sample CDK2 P24941 VAR_053927 p.Val18Leu Polymorphism rs11554376 - CDK3 Q00526 VAR_021101 p.Thr226Ile Polymorphism rs2069532 - CDK3 Q00526 VAR_021102 p.Met264Thr Polymorphism rs17884251 - CDK3 Q00526 VAR_041973 p.Ser106Asn Unclassified - A glioblastoma multiforme sample CDK3 Q00526 VAR_041974 p.Ile124Thr Polymorphism rs34918446 - CDK3 Q00526 VAR_041975 p.Arg214His Polymorphism rs34670267 - CDK4 P11802 VAR_006200 p.Arg24Cys Disease rs11547328 Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048] CDK4 P11802 VAR_006201 p.Arg24His Disease - Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048] CDK4 P11802 VAR_021152 p.Asn41Ser Disease - Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048] CDK4 P11802 VAR_029153 p.Arg82Gln Polymorphism rs3211612 - CDK4 P11802 VAR_041976 p.Arg122His Polymorphism rs34386532 - CDK5 Q00535 VAR_041977 p.Glu225Asp Polymorphism rs35186917 - CDK5RAP2 Q96SN8 VAR_017443 p.Glu289Gln Polymorphism rs4836822 - CDK5RAP2 Q96SN8 VAR_017444 p.Val1540Leu Polymorphism rs4837768 - CDK5RAP2 Q96SN8 VAR_032426 p.Arg1045Thr Polymorphism rs3780679 - CDK5RAP2 Q96SN8 VAR_056831 p.Ala183Pro Polymorphism rs13287734 - CDK5RAP2 Q96SN8 VAR_056832 p.Arg1607Ser Polymorphism rs16909747 - CDK5RAP2 Q96SN8 VAR_059616 p.Asn1330Ile Polymorphism rs7875294 - CDK5RAP3 Q96JB5 VAR_048688 p.Leu324Val Polymorphism rs35054799 - CDK6 Q00534 VAR_041978 p.Asp110Asn Polymorphism rs35654944 - CDK6 Q00534 VAR_041979 p.Pro199Leu Unclassified - A metastatic melanoma sample CDK7 P50613 VAR_023118 p.Gly163Ala Polymorphism - - CDK7 P50613 VAR_023119 p.Thr285Met Polymorphism rs34584424 - CDK8 P49336 VAR_041980 p.Asp189Asn Unclassified - A lung neuroendocrine carcinoma sample CDK8 P49336 VAR_041981 p.Arg424Cys Unclassified - A colorectal adenocarcinoma sample CDK9 P50750 VAR_013456 p.Gly231Ala Polymorphism - - CDK9 P50750 VAR_041982 p.Phe59Leu Polymorphism rs55640715 - CDKAL1 Q5VV42 VAR_052705 p.Lys484Arg Polymorphism rs9460608 - CDKL1 Q00532 VAR_020576 p.Leu66Pro Polymorphism rs11570814 - CDKL1 Q00532 VAR_020577 p.Gln274Glu Polymorphism rs7161563 - CDKL1 Q00532 VAR_020578 p.Leu329Val Polymorphism rs9323183 - CDKL1 Q00532 VAR_020579 p.Lys341Asn Polymorphism rs11570886 - CDKL2 Q92772 VAR_041987 p.Leu98Ile Unclassified - An ovarian papillary serous adenocarcinoma sample CDKL2 Q92772 VAR_041988 p.Arg149Gln Unclassified - An ovarian mucinous carcinoma sample CDKL2 Q92772 VAR_041989 p.Met197Thr Polymorphism rs56343717 - CDKL2 Q92772 VAR_041990 p.Ala411Val Polymorphism rs56231363 - CDKL2 Q92772 VAR_053928 p.Tyr77Ser Polymorphism rs35921414 - CDKL2 Q92772 VAR_053929 p.Ile132Thr Polymorphism rs17000707 - CDKL3 Q8IVW4 VAR_041991 p.Met394Thr Polymorphism rs35687772 - CDKL4 Q5MAI5 VAR_041992 p.Ser38Pro Polymorphism rs35947084 - CDKL4 Q5MAI5 VAR_041993 p.Arg53His Polymorphism rs35454041 - CDKL4 Q5MAI5 VAR_041994 p.Phe228Cys Polymorphism rs56353587 - CDKL4 Q5MAI5 VAR_041995 p.Ser288Tyr Polymorphism rs34819676 - CDKL4 Q5MAI5 VAR_041996 p.Arg307Cys Polymorphism rs56330730 - CDKL4 Q5MAI5 VAR_053930 p.His118Tyr Polymorphism rs6731369 - CDKL5 O76039 VAR_023560 p.Cys152Phe Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_023561 p.Arg175Ser Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_023562 p.Gln791Pro Polymorphism rs35478150 - CDKL5 O76039 VAR_036578 p.Asn368His Unclassified - A colorectal cancer sample CDKL5 O76039 VAR_037635 p.Pro180Leu Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_037636 p.Val793Ala Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_037637 p.Val999Met Polymorphism rs35693326 - CDKL5 O76039 VAR_041997 p.Ala374Thr Unclassified - A metastatic melanoma sample CDKL5 O76039 VAR_041998 p.Pro574Gln Unclassified - An ovarian serous carcinoma sample CDKL5 O76039 VAR_041999 p.Thr734Ala Polymorphism rs55803460 - CDKL5 O76039 VAR_042000 p.Glu1023Gly Polymorphism rs34166184 - CDKL5 O76039 VAR_058022 p.Ala40Val Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058023 p.Ile72Asn Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058024 p.Ile72Thr Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058025 p.His127Arg Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058026 p.Arg178Pro Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058027 p.Leu220Pro Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058028 p.Thr288Ile Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058029 p.Cys291Tyr Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058030 p.Asn399Thr Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058031 p.Arg444Cys Polymorphism - - CDKL5 O76039 VAR_058032 p.Val718Met Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] CDKL5 O76039 VAR_058033 p.Arg923Cys Polymorphism - - CDKN1A P38936 VAR_011870 p.Ser31Arg Polymorphism rs1801270 - CDKN1A P38936 VAR_014875 p.Asp149Gly Polymorphism rs1801724 - CDKN1A P38936 VAR_048686 p.Pro4Leu Polymorphism rs4986866 - CDKN1A P38936 VAR_048687 p.Phe63Leu Polymorphism rs4986867 - CDKN1B P46527 VAR_011871 p.Arg15Trp Polymorphism rs2066828 - CDKN1B P46527 VAR_011872 p.Val109Gly Polymorphism rs2066827 - CDKN1B P46527 VAR_064429 p.Pro69Leu Unclassified - - CDKN2A P42771 VAR_001408 p.Asp14Glu Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001409 p.Leu16Pro Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001410 p.Ala20Pro Unclassified - A lung tumor CDKN2A P42771 VAR_001411 p.Ala20Ser Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001412 p.Gly23Asp Unclassified - A pancreas tumor CDKN2A P42771 VAR_001413 p.Arg24Cys Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001414 p.Arg24Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001415 p.Glu26Asp Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001416 p.Leu32Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001417 p.Glu33Asp Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001418 p.Gly35Ala Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001419 p.Gly35Glu Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001420 p.Pro48Leu Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001421 p.Ile49Ser Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001422 p.Ile49Thr Polymorphism - - CDKN2A P42771 VAR_001423 p.Gln50Arg Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001424 p.Met53Ile Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001425 p.Ser56Ile Polymorphism - - CDKN2A P42771 VAR_001426 p.Ala57Val Unclassified - Pancreas carcinoma CDKN2A P42771 VAR_001427 p.Val59Gly Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001428 p.Ala60Thr Polymorphism - - CDKN2A P42771 VAR_001430 p.Leu62Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001431 p.His66Tyr Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001432 p.Ala68Leu Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001433 p.Ala68Thr Unclassified - An esophagus tumor CDKN2A P42771 VAR_001434 p.Ala68Val Polymorphism - - CDKN2A P42771 VAR_001435 p.Glu69Lys Unclassified - A bladder tumor CDKN2A P42771 VAR_001436 p.Glu69Val Unclassified - A lung tumor CDKN2A P42771 VAR_001437 p.Asn71Lys Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001438 p.Asn71Ser Polymorphism - - CDKN2A P42771 VAR_001439 p.Cys72Gly Unclassified - An esophagus tumor CDKN2A P42771 VAR_001440 p.Asp74Asn Unclassified - A bladder tumor CDKN2A P42771 VAR_001441 p.Asp74Val Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001442 p.Arg80Leu Unclassified - Neck tumor CDKN2A P42771 VAR_001443 p.Pro81Leu Unclassified rs11552823 Some patients with melanoma CDKN2A P42771 VAR_001444 p.His83Tyr Unclassified - A head and neck tumor CDKN2A P42771 VAR_001445 p.His83Asn Unclassified - A lung tumor CDKN2A P42771 VAR_001446 p.Asp84Glu Unclassified - A bladder tumor CDKN2A P42771 VAR_001447 p.Asp84His Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001448 p.Asp84Asn Unclassified - Neck and a lung tumor CDKN2A P42771 VAR_001449 p.Asp84Tyr Disease rs11552822 Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001450 p.Ala85Thr Polymorphism - - CDKN2A P42771 VAR_001451 p.Arg87Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001452 p.Glu88Asp Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001453 p.Gly89Asp Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001454 p.Gly89Ser Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001455 p.Thr93Ala Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001456 p.Val95Ala Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001457 p.Leu97Arg Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001458 p.His98Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001459 p.His98Gln Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001460 p.Arg99Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001461 p.Arg99Gln Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001462 p.Ala100Leu Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001463 p.Ala100Pro Polymorphism - - CDKN2A P42771 VAR_001464 p.Gly101Trp Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001464 p.Gly101Trp Disease - Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719] CDKN2A P42771 VAR_001466 p.Arg107Cys Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001467 p.Arg107His Polymorphism - - CDKN2A P42771 VAR_001468 p.Asp108Tyr Unclassified - Neck tumor CDKN2A P42771 VAR_001469 p.Asp108His Unclassified - A bladder tumor CDKN2A P42771 VAR_001470 p.Pro114Leu Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001471 p.Leu117Met Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001472 p.Ala118Thr Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001473 p.Glu119Gln Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001474 p.Glu120Ala Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001475 p.Glu120Lys Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001476 p.Gly122Ser Unclassified - A biliary tract tumor CDKN2A P42771 VAR_001477 p.His123Gln Unclassified rs6413463 Leukemia CDKN2A P42771 VAR_001478 p.Arg124His Unclassified - An esophagus tumor CDKN2A P42771 VAR_001479 p.Val126Asp Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_001480 p.Ala127Ser Unclassified rs6413464 Squamous cell carcinoma CDKN2A P42771 VAR_001481 p.Ala132Pro Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001482 p.Ala134Val Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001483 p.His142Tyr Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_001484 p.Arg144Cys Unclassified - Squamous cell carcinoma CDKN2A P42771 VAR_001486 p.Ala148Thr Polymorphism rs3731249 - CDKN2A P42771 VAR_001487 p.Gly150Val Unclassified - Non-small cell lung carcinoma CDKN2A P42771 VAR_012317 p.Arg87Trp Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_015818 p.Ala102Glu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] CDKN2A P42771 VAR_023604 p.Leu94Gln Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_035069 p.Gly122Arg Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_053027 p.Arg58Gln Polymorphism rs36204273 - CDKN2A P42771 VAR_053028 p.Ala60Val Unclassified rs36204594 Melanoma CDKN2A P42771 VAR_053029 p.His83Gln Polymorphism rs34968276 - CDKN2A P42771 VAR_053030 p.Arg99Trp Polymorphism rs34886500 - CDKN2A P42771 VAR_053031 p.Ala102Thr Polymorphism rs35741010 - CDKN2A P42771 VAR_053032 p.Arg124Cys Polymorphism rs34170727 - CDKN2A P42771 VAR_058550 p.Arg24Gln Unclassified - - CDKN2A P42771 VAR_058551 p.Gly35Val Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058553 p.Gly67Arg Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058554 p.Glu69Gly Unclassified - - CDKN2A P42771 VAR_058555 p.Asp74Tyr Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058556 p.Thr77Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058557 p.Arg80Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058558 p.Pro81Thr Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] CDKN2A P42771 VAR_058559 p.Pro114Ser Unclassified - - CDKN2A Q8N726 VAR_029287 p.Pro17Ser Polymorphism rs3731190 - CDKN2A Q8N726 VAR_053033 p.Gly106Arg Polymorphism rs4987127 - CDKN2A Q8N726 VAR_053034 p.Pro113Leu Polymorphism rs34886500 - CDKN2A Q8N726 VAR_053035 p.Gly116Asp Polymorphism rs35741010 - CDKN2B P42772 VAR_001488 p.Gly47Glu Unclassified - Lung adenocarcinoma CDKN2B P42772 VAR_001489 p.Ala50Val Unclassified - Lung adenocarcinoma CDKN2C P42773 VAR_001490 p.Ala72Pro Unclassified - Breast cancer CDKN2C P42773 VAR_038604 p.Thr126Met Polymorphism rs17851380 - CDKN3 Q16667 VAR_013842 p.Trp31Arg Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013843 p.Phe78Leu Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013844 p.Cys79Tyr Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013845 p.Asn91Lys Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013846 p.Asp94Val Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013847 p.Leu95Phe Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013848 p.Ile108Val Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013849 p.Asn187Ser Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_013850 p.Lys195Ile Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550] CDKN3 Q16667 VAR_051769 p.Ser159Phe Polymorphism rs1803843 - CDO1 Q16878 VAR_023536 p.Thr45Ile Polymorphism rs1042867 - CDO1 Q16878 VAR_036170 p.Glu143Gln Unclassified - A colorectal cancer sample CDON Q4KMG0 VAR_056038 p.Lys66Arg Polymorphism rs7122277 - CDON Q4KMG0 VAR_056039 p.Glu162Lys Polymorphism rs3740909 - CDON Q4KMG0 VAR_056040 p.Pro351Ala Polymorphism rs35665264 - CDON Q4KMG0 VAR_056041 p.Ala686Val Polymorphism rs12274923 - CDPF1 Q6NVV7 VAR_044058 p.Val5Ala Polymorphism rs9627281 - CDPF1 Q6NVV7 VAR_062237 p.Leu70Arg Polymorphism rs55641018 - CDR2L Q86X02 VAR_035384 p.Asp300Glu Polymorphism rs36057512 - CDRT15 Q96T59 VAR_038121 p.Arg24Gln Polymorphism rs17679866 - CDRT1 O95170 VAR_038340 p.Phe643Leu Polymorphism rs8078150 - CDRT4 Q8N9R6 VAR_038119 p.Val72Ile Polymorphism rs3744332 - CDRT4 Q8N9R6 VAR_038120 p.His121Gln Polymorphism rs2954759 - CDS1 Q92903 VAR_036129 p.Lys204Thr Unclassified - A breast cancer sample CDS1 Q92903 VAR_048736 p.Leu99Phe Polymorphism rs36068434 - CDSN Q15517 VAR_022615 p.Met18Leu Polymorphism rs3095318 - CDSN Q15517 VAR_022616 p.Asn143Ser Polymorphism rs3130984 - CDSN Q15517 VAR_022618 p.Ser202Phe Polymorphism rs707913 - CDSN Q15517 VAR_022619 p.Ser408Ala Polymorphism rs1042127 - CDSN Q15517 VAR_022620 p.Ser410Leu Polymorphism rs3132554 - CDSN Q15517 VAR_022621 p.Asp527Asn Polymorphism rs3130981 - CDSN Q15517 VAR_022637 p.Leu56Phe Polymorphism rs7742033 - CDSN Q15517 VAR_022639 p.Ser150Asn Polymorphism - - CDSN Q15517 VAR_022641 p.Ser401Gly Polymorphism rs33941312 - CDSN Q15517 VAR_046010 p.Gly145Ser Polymorphism rs6457328 - CDT1 Q9H211 VAR_024408 p.Ala537Val Polymorphism rs3218721 - CDT1 Q9H211 VAR_029163 p.Ala135Val Polymorphism rs3218725 - CDT1 Q9H211 VAR_029164 p.Arg172Cys Polymorphism rs3218727 - CDT1 Q9H211 VAR_029165 p.Glu456Ala Polymorphism rs3218729 - CDT1 Q9H211 VAR_054504 p.Cys234Arg Polymorphism rs507329 - CDT1 Q9H211 VAR_054505 p.Thr262Ala Polymorphism rs480727 - CDT1 Q9H211 VAR_065488 p.Ala66Thr Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] CDT1 Q9H211 VAR_065489 p.Gln117His Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] CDT1 Q9H211 VAR_065490 p.Arg453Trp Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] CDT1 Q9H211 VAR_065491 p.Arg462Gln Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] CDT1 Q9H211 VAR_065492 p.Glu468Lys Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] CDX1 P47902 VAR_020149 p.Pro130Arg Polymorphism rs2302275 - CDX2 Q99626 VAR_014530 p.Pro293Ser Polymorphism rs1805107 - CDYL Q9Y232 VAR_032936 p.Thr2Ala Polymorphism rs3812179 - CDYL Q9Y232 VAR_032937 p.Ser9Pro Polymorphism rs3812178 - CDYL Q9Y232 VAR_032938 p.Val48Ala Polymorphism rs13196069 - CDYL Q9Y232 VAR_032939 p.Ala60Gly Polymorphism rs28360500 - CEACAM18 A8MTB9 VAR_043976 p.Leu221His Polymorphism rs8106673 - CEACAM18 A8MTB9 VAR_043977 p.Thr222Ala Polymorphism rs12610545 - CEACAM18 A8MTB9 VAR_064701 p.Ala14Pro Polymorphism rs11878388 - CEACAM1 P13688 VAR_049844 p.Gln35Lys Polymorphism rs8111171 - CEACAM1 P13688 VAR_049845 p.Ala83Val Polymorphism rs8110904 - CEACAM1 P13688 VAR_049846 p.Gln123His Polymorphism rs8111468 - CEACAM1 P13688 VAR_049847 p.Gln376Arg Polymorphism rs41355544 - CEACAM20 Q6UY09 VAR_056030 p.Ala41Val Polymorphism rs10408247 - CEACAM20 Q6UY09 VAR_056031 p.Arg113His Polymorphism rs13345196 - CEACAM20 Q6UY09 VAR_056032 p.Ile127Val Polymorphism rs35443082 - CEACAM20 Q6UY09 VAR_056033 p.Ser355Leu Polymorphism rs16959164 - CEACAM20 Q6UY09 VAR_056034 p.Ser369Phe Polymorphism rs10414398 - CEACAM20 Q6UY09 VAR_059385 p.Cys512Arg Polymorphism rs8100718 - CEACAM20 Q6UY09 VAR_061312 p.Thr87Ile Polymorphism rs36053277 - CEACAM21 Q3KPI0 VAR_034651 p.Thr121Asn Polymorphism rs714106 - CEACAM21 Q3KPI0 VAR_034652 p.Met198Val Polymorphism rs2302188 - CEACAM3 P40198 VAR_003905 p.Ser7Pro Polymorphism rs1041999 - CEACAM4 O75871 VAR_038404 p.His29Asp Polymorphism rs1126454 - CEACAM4 O75871 VAR_038405 p.Lys69Arg Polymorphism rs3848568 - CEACAM5 P06731 VAR_024493 p.Lys398Glu Polymorphism rs7249230 - CEACAM5 P06731 VAR_031091 p.Ala340Asp Polymorphism rs10407503 - CEACAM5 P06731 VAR_031092 p.Arg664Ser Polymorphism rs10423171 - CEACAM5 P06731 VAR_056028 p.Gln137Pro Polymorphism rs3815780 - CEACAM5 P06731 VAR_056029 p.Gly678Arg Polymorphism rs11545767 - CEACAM5 P06731 VAR_061310 p.Ile80Val Polymorphism rs12971352 - CEACAM5 P06731 VAR_061311 p.Val83Ala Polymorphism rs28683503 - CEACAM6 P40199 VAR_034680 p.Gly239Val Polymorphism rs11548735 - CEACAM7 Q14002 VAR_024494 p.Phe120Ile Polymorphism rs8102488 - CEACAM7 Q14002 VAR_049848 p.Ala263Val Polymorphism rs7259532 - CEACAM7 Q14002 VAR_059384 p.Tyr236His Polymorphism rs16975478 - CEACAM8 P31997 VAR_011721 p.Arg114Lys Polymorphism rs1041997 - CEACAM8 P31997 VAR_049849 p.Gly17Val Polymorphism rs28367882 - CEACAM8 P31997 VAR_049850 p.Ala45Val Polymorphism rs35221575 - CEACAM8 P31997 VAR_049851 p.Leu322Val Polymorphism rs45476198 - CEACAM8 P31997 VAR_049852 p.Ile340Met Polymorphism rs8103051 - CEBPB P17676 VAR_016300 p.Gly195Ser Polymorphism rs4253440 - CEBPD P49716 VAR_037087 p.Arg248Trp Polymorphism rs34948549 - CEBPZ Q03701 VAR_026043 p.Val102Ile Polymorphism rs2098386 - CEBPZ Q03701 VAR_031399 p.Pro15Ser Polymorphism rs3213746 - CEBPZ Q03701 VAR_031400 p.Lys303Arg Polymorphism rs17020328 - CEBPZ Q03701 VAR_055622 p.Asn639Ser Polymorphism rs3180252 - CECR1 Q9NZK5 VAR_029802 p.His335Arg Polymorphism rs2231495 - CECR2 Q9BXF3 VAR_027411 p.Arg293His Polymorphism rs5747211 - CECR2 Q9BXF3 VAR_027412 p.Pro674Leu Polymorphism rs1296794 - CECR5 Q9BXW7 VAR_033674 p.Arg369Ser Polymorphism rs16982020 - CECR5 Q9BXW7 VAR_050790 p.Thr179Met Polymorphism rs35665085 - CECR5 Q9BXW7 VAR_050791 p.Arg416Cys Polymorphism rs35327402 - CELA1 Q9UNI1 VAR_033645 p.Gln10His Polymorphism rs17860287 - CELA1 Q9UNI1 VAR_033646 p.Arg44Trp Polymorphism rs17860299 - CELA1 Q9UNI1 VAR_033647 p.Met59Val Polymorphism rs17860300 - CELA1 Q9UNI1 VAR_033648 p.Gln243Arg Polymorphism rs17860364 - CELA1 Q9UNI1 VAR_036295 p.Gly76Ala Unclassified - A breast cancer sample CELA2A P08217 VAR_051837 p.Asn257Ser Polymorphism rs2303193 - CELA2B P08218 VAR_044534 p.Gly79Arg Polymorphism rs3820071 - CELA2B P08218 VAR_044535 p.Asp114Asn Polymorphism rs3766160 - CELA2B P08218 VAR_044536 p.Gln177Arg Polymorphism rs6429745 - CELA2B P08218 VAR_044537 p.Gly235Ser Polymorphism rs3737703 - CELA3A P09093 VAR_051838 p.Ala241Gly Polymorphism rs3820285 - CELA3A P09093 VAR_059783 p.His24Arg Polymorphism rs7531336 - CELA3A P09093 VAR_059784 p.Ser25Pro Polymorphism rs7533776 - CELA3A P09093 VAR_059785 p.His31Asn Polymorphism rs7519660 - CELA3B P08861 VAR_025446 p.Arg79Trp Polymorphism rs7528405 - CELF2 O95319 VAR_052202 p.Asp438His Polymorphism rs1050942 - CELF4 Q9BZC1 VAR_052203 p.Gly388Ser Polymorphism rs12458669 - CELF5 Q8N6W0 VAR_033264 p.Phe65Leu Polymorphism rs17854481 - CELF6 Q96J87 VAR_033265 p.Arg152Pro Polymorphism rs34566074 - CELSR1 Q9NYQ6 VAR_016094 p.Ser664Trp Polymorphism rs4823850 - CELSR1 Q9NYQ6 VAR_016095 p.Cys1126Arg Polymorphism rs4823561 - CELSR1 Q9NYQ6 VAR_024479 p.Ile2107Val Polymorphism rs4044210 - CELSR1 Q9NYQ6 VAR_024480 p.Thr2268Ala Polymorphism rs6007897 - CELSR1 Q9NYQ6 VAR_049464 p.Ile587Val Polymorphism rs34141466 - CELSR1 Q9NYQ6 VAR_049465 p.Val1242Ile Polymorphism rs6008842 - CELSR1 Q9NYQ6 VAR_049466 p.Tyr1894His Polymorphism rs34467708 - CELSR1 Q9NYQ6 VAR_049467 p.Leu1994Pro Polymorphism rs6008795 - CELSR1 Q9NYQ6 VAR_049468 p.Leu1995Pro Polymorphism rs6008794 - CELSR1 Q9NYQ6 VAR_049469 p.Thr2045Met Polymorphism rs12169391 - CELSR1 Q9NYQ6 VAR_049470 p.Arg2219His Polymorphism rs34267201 - CELSR1 Q9NYQ6 VAR_049471 p.Cys2797Ser Polymorphism rs12165943 - CELSR1 Q9NYQ6 VAR_049472 p.Glu2903Gln Polymorphism rs9615351 - CELSR1 Q9NYQ6 VAR_049473 p.Gly2948Ser Polymorphism rs35364389 - CELSR2 Q9HCU4 VAR_024481 p.Tyr1639His Polymorphism rs653635 - CELSR2 Q9HCU4 VAR_049474 p.Arg1066Gln Polymorphism rs12083590 - CELSR2 Q9HCU4 VAR_049475 p.Gly1992Arg Polymorphism rs12567377 - CELSR2 Q9HCU4 VAR_049476 p.Thr2387Ala Polymorphism rs17035649 - CELSR3 Q9NYQ7 VAR_020022 p.Ala157Pro Polymorphism rs3733085 - CELSR3 Q9NYQ7 VAR_020023 p.Ser805Thr Polymorphism rs3821875 - CELSR3 Q9NYQ7 VAR_055101 p.Gln1758Arg Polymorphism rs12107252 - CEMP1 Q6PRD7 VAR_050792 p.Lys55Glu Polymorphism rs13331643 - CENPE Q02224 VAR_049689 p.Phe1535Leu Polymorphism rs2615542 - CENPE Q02224 VAR_049690 p.Ser1581Arg Polymorphism rs35100664 - CENPE Q02224 VAR_049691 p.Glu1925Asp Polymorphism rs2306106 - CENPE Q02224 VAR_049692 p.Thr2090Met Polymorphism rs2243682 - CENPE Q02224 VAR_059370 p.Ser1911Thr Polymorphism rs1381657 - CENPF P49454 VAR_014839 p.Asn3202Lys Polymorphism rs7289 - CENPF P49454 VAR_034712 p.Arg300Cys Polymorphism rs17023281 - CENPF P49454 VAR_034713 p.His494Gln Polymorphism rs2070065 - CENPF P49454 VAR_034714 p.Met701Val Polymorphism rs3795524 - CENPF P49454 VAR_034715 p.Gln754Glu Polymorphism rs3795523 - CENPF P49454 VAR_034716 p.Arg815His Polymorphism rs3795522 - CENPF P49454 VAR_034717 p.Tyr1018Asp Polymorphism rs3795519 - CENPF P49454 VAR_034718 p.Gly1033Arg Polymorphism rs3795518 - CENPF P49454 VAR_034719 p.Thr1105Ile Polymorphism rs12067133 - CENPF P49454 VAR_034720 p.Leu1412Ser Polymorphism rs3795517 - CENPF P49454 VAR_034721 p.Ala1515Thr Polymorphism rs2666839 - CENPF P49454 VAR_034722 p.Lys1539Arg Polymorphism rs3795514 - CENPF P49454 VAR_034723 p.Glu2011Ala Polymorphism rs3790647 - CENPF P49454 VAR_055049 p.Gln250Leu Polymorphism rs1050065 - CENPF P49454 VAR_055050 p.Asp272Gly Polymorphism rs1050066 - CENPF P49454 VAR_055638 p.Asp1864Asn Polymorphism rs3748692 - CENPH Q9H3R5 VAR_036167 p.Glu2Lys Unclassified - A colorectal cancer sample CENPJ Q9HC77 VAR_032427 p.Met21Val Polymorphism rs35498994 - CENPJ Q9HC77 VAR_032428 p.Pro55Ala Polymorphism rs17081389 - CENPJ Q9HC77 VAR_032429 p.Asp63His Polymorphism rs7336216 - CENPJ Q9HC77 VAR_032430 p.Pro85Thr Polymorphism rs9511510 - CENPJ Q9HC77 VAR_032431 p.Glu151Gly Polymorphism rs34177811 - CENPJ Q9HC77 VAR_032432 p.Ser879Ala Polymorphism rs17402892 - CENPJ Q9HC77 VAR_032433 p.Glu1235Val Disease - Microcephaly primary type 6 (MCPH6) [MIM:608393] CENPL Q8N0S6 VAR_027081 p.Ile117Phe Polymorphism rs12086855 - CENPN Q96H22 VAR_027419 p.Glu84Asp Polymorphism rs935939 - CENPN Q96H22 VAR_048689 p.Gln223Arg Polymorphism rs11641523 - CENPN Q96H22 VAR_048690 p.Glu288Lys Polymorphism rs2549887 - CENPO Q9BU64 VAR_027420 p.Gln34Arg Polymorphism rs1550116 - CENPQ Q7L2Z9 VAR_022857 p.Gly63Arg Polymorphism rs4267943 - CENPQ Q7L2Z9 VAR_024303 p.Asp266Gly Polymorphism rs2501968 - CENPT Q96BT3 VAR_027421 p.Pro115Leu Polymorphism rs12102580 - CEP104 O60308 VAR_020042 p.Ala686Val Polymorphism rs2275831 - CEP104 O60308 VAR_034036 p.Leu414Ile Polymorphism rs2275824 - CEP112 Q8N8E3 VAR_050752 p.Lys551Glu Polymorphism rs17704679 - CEP120 Q8N960 VAR_046126 p.Leu602Val Polymorphism rs6595440 - CEP120 Q8N960 VAR_046127 p.Gln879His Polymorphism rs1047437 - CEP120 Q8N960 VAR_046128 p.Val936Ile Polymorphism rs2303721 - CEP120 Q8N960 VAR_046129 p.Arg947His Polymorphism rs2303720 - CEP128 Q6ZU80 VAR_037835 p.Arg16Leu Polymorphism rs7160694 - CEP128 Q6ZU80 VAR_037836 p.His732Arg Polymorphism rs327463 - CEP135 Q66GS9 VAR_057785 p.Ile769Leu Polymorphism rs3214045 - CEP152 O94986 VAR_047932 p.Ser54Leu Polymorphism rs2289181 - CEP152 O94986 VAR_050779 p.Ser793Ile Polymorphism rs2289178 - CEP152 O94986 VAR_050780 p.Leu914Val Polymorphism rs16961560 - CEP152 O94986 VAR_050781 p.Val1106Ala Polymorphism rs16961557 - CEP152 O94986 VAR_063813 p.Gln265Pro Disease - Microcephaly, primary, 9 (MCPH9) [MIM:614852] CEP152 O94986 VAR_065258 p.Lys667Arg Disease - Seckel syndrome type 5 (SCKL5) [MIM:613823] CEP164 Q9UPV0 VAR_037511 p.Ser94Asn Polymorphism rs490262 - CEP164 Q9UPV0 VAR_037512 p.Thr988Ser Polymorphism rs2305830 - CEP164 Q9UPV0 VAR_037513 p.Gln1119Arg Polymorphism rs573455 - CEP170 Q5SW79 VAR_031437 p.Gly213Ser Polymorphism rs2631092 - CEP192 Q8TEP8 VAR_037514 p.Thr457Ala Polymorphism rs10048340 - CEP192 Q8TEP8 VAR_037515 p.Val769Met Polymorphism rs2282542 - CEP192 Q8TEP8 VAR_050782 p.Gln513Pro Polymorphism rs11080623 - CEP192 Q8TEP8 VAR_050783 p.Arg948His Polymorphism rs7228940 - CEP192 Q8TEP8 VAR_050784 p.Ser956Pro Polymorphism rs578208 - CEP192 Q8TEP8 VAR_050785 p.Leu1105Phe Polymorphism rs6505780 - CEP192 Q8TEP8 VAR_050786 p.Ser1455Asn Polymorphism rs2027698 - CEP192 Q8TEP8 VAR_050787 p.Leu1525Pro Polymorphism rs474337 - CEP192 Q8TEP8 VAR_050788 p.Lys1675Glu Polymorphism rs3737379 - CEP192 Q8TEP8 VAR_050789 p.Arg1853Leu Polymorphism rs1786263 - CEP250 Q9BV73 VAR_015649 p.Gln995His Polymorphism rs2296403 - CEP250 Q9BV73 VAR_021858 p.Arg1441Gln Polymorphism rs3748433 - CEP250 Q9BV73 VAR_050898 p.Gln1072Glu Polymorphism rs17092706 - CEP290 O15078 VAR_028356 p.Trp7Cys Disease - Joubert syndrome type 5 (JBTS5) [MIM:610188] CEP290 O15078 VAR_028356 p.Trp7Cys Disease - Senior-Loken syndrome type 6 (SLSN6) [MIM:610189] CEP290 O15078 VAR_031058 p.Lys838Glu Polymorphism rs11104738 - CEP290 O15078 VAR_031059 p.Leu906Trp Polymorphism rs7970228 - CEP290 O15078 VAR_031060 p.Arg1237His Polymorphism rs7307793 - CEP290 O15078 VAR_031061 p.Ile1836Val Polymorphism rs11104729 - CEP290 O15078 VAR_064397 p.Glu277Gln Polymorphism - - CEP290 O15078 VAR_064398 p.Asp664Gly Unclassified - - CEP290 O15078 VAR_064399 p.Ala1566Pro Polymorphism - - CEP290 O15078 VAR_064400 p.Leu1694Pro Polymorphism - - CEP290 O15078 VAR_064401 p.Asn2228Lys Polymorphism - - CEP350 Q5VT06 VAR_026126 p.Glu945Gln Polymorphism rs2477120 - CEP350 Q5VT06 VAR_048671 p.Thr1445Ala Polymorphism rs16855164 - CEP350 Q5VT06 VAR_059202 p.Arg892Thr Polymorphism rs6692219 - CEP350 Q5VT06 VAR_059203 p.Gly1213Val Polymorphism rs12125245 - CEP350 Q5VT06 VAR_059204 p.Thr1446Ala Polymorphism rs16855164 - CEP350 Q5VT06 VAR_059205 p.Ser1517Ala Polymorphism rs12124336 - CEP350 Q5VT06 VAR_061092 p.Thr2044Pro Polymorphism rs56173179 - CEP44 Q9C0F1 VAR_033116 p.Gly147Ser Polymorphism rs4695918 - CEP55 Q53EZ4 VAR_022996 p.Thr99Ala Polymorphism rs7080916 - CEP55 Q53EZ4 VAR_022997 p.His378Leu Polymorphism rs2293277 - CEP55 Q53EZ4 VAR_026559 p.His57Gln Polymorphism rs3740370 - CEP55 Q53EZ4 VAR_056791 p.Cys236Arg Polymorphism rs7072484 - CEP57L1 Q8IYX8 VAR_052396 p.Asp194Glu Polymorphism rs351733 - CEP57 Q86XR8 VAR_059839 p.Arg448Gly Polymorphism rs644799 - CEP63 Q96MT8 VAR_020604 p.Ser651Leu Polymorphism rs1127826 - CEP68 Q76N32 VAR_022363 p.Gly74Ser Polymorphism rs7572857 - CEP68 Q76N32 VAR_050794 p.Arg27Gly Polymorphism rs12611491 - CEP68 Q76N32 VAR_050795 p.Leu397Pro Polymorphism rs35501092 - CEP68 Q76N32 VAR_050796 p.Arg462Cys Polymorphism rs35694840 - CEP68 Q76N32 VAR_050797 p.Glu473Gln Polymorphism rs35089924 - CEP70 Q8NHQ1 VAR_021177 p.Ser135Asn Polymorphism rs1673607 - CEP70 Q8NHQ1 VAR_061590 p.Asn537Ser Polymorphism rs35340237 - CEP72 Q9P209 VAR_050798 p.Pro238Leu Polymorphism rs869955 - CEP72 Q9P209 VAR_050799 p.Pro412Thr Polymorphism rs12522955 - CEP72 Q9P209 VAR_050800 p.Thr509Ala Polymorphism rs868649 - CEP85L Q5SZL2 VAR_034670 p.Ser137Gly Polymorphism rs3734381 - CEP85L Q5SZL2 VAR_034671 p.Asp166Val Polymorphism rs9489444 - CEP85L Q5SZL2 VAR_034672 p.Pro251Thr Polymorphism rs3734382 - CEP85L Q5SZL2 VAR_036247 p.Ser345Phe Unclassified - A breast cancer sample CEP85L Q5SZL2 VAR_053941 p.Gln532His Polymorphism rs9489410 - CEP85L Q5SZL2 VAR_053942 p.Met640Val Polymorphism rs7743702 - CEP85 Q6P2H3 VAR_033665 p.Ala542Thr Polymorphism rs7550997 - CEP85 Q6P2H3 VAR_053938 p.Arg48His Polymorphism rs35831900 - CEP85 Q6P2H3 VAR_053939 p.Ser213Asn Polymorphism rs3795686 - CEP85 Q6P2H3 VAR_053940 p.Gln668His Polymorphism rs36013141 - CEP89 Q96ST8 VAR_063122 p.Arg194Trp Polymorphism rs3764633 - CEP89 Q96ST8 VAR_063123 p.Val398Ala Polymorphism rs4805825 - CEP95 Q96GE4 VAR_033666 p.Met165Ile Polymorphism rs9910506 - CEP95 Q96GE4 VAR_050751 p.Ala811Val Polymorphism rs11550922 - CER1 O95813 VAR_021591 p.Arg19Trp Polymorphism rs10115703 - CER1 O95813 VAR_021592 p.Ala65Gly Polymorphism rs3747532 - CER1 O95813 VAR_021593 p.Val179Ile Polymorphism rs7036635 - CERKL Q49MI3 VAR_053688 p.Leu232Phe Polymorphism rs10185262 - CERKL Q49MI3 VAR_053689 p.Glu514Gly Polymorphism rs35955809 - CERKL Q49MI3 VAR_065182 p.Arg106Ser Disease - Retinitis pigmentosa type 26 (RP26) [MIM:608380] CERK Q8TCT0 VAR_053685 p.Ile191Val Polymorphism rs16995615 - CERK Q8TCT0 VAR_053686 p.Thr211Met Polymorphism rs9306515 - CERK Q8TCT0 VAR_053687 p.Leu306Phe Polymorphism rs13057352 - CERS2 Q96G23 VAR_052325 p.Glu115Ala Polymorphism rs267738 - CERS3 Q8IU89 VAR_019328 p.Arg370Gly Polymorphism rs2439928 - CERS3 Q8IU89 VAR_057276 p.Asp342Gly Polymorphism rs1023783 - CERS3 Q8IU89 VAR_061847 p.Tyr45Cys Polymorphism rs60405735 - CERS4 Q9HA82 VAR_019556 p.Gly301Ser Polymorphism rs2288413 - CERS4 Q9HA82 VAR_019557 p.Ala366Thr Polymorphism rs36259 - CERS4 Q9HA82 VAR_034065 p.Arg119Gln Polymorphism rs17159388 - CERS4 Q9HA82 VAR_060263 p.Ala353Val Polymorphism rs17160348 - CERS4 Q9HA82 VAR_060264 p.Arg379Gln Polymorphism rs17160349 - CERS5 Q8N5B7 VAR_019558 p.Cys75Arg Polymorphism rs7302981 - CES1 P23141 VAR_014314 p.Ser75Asn Polymorphism rs2307240 - CES1 P23141 VAR_014594 p.Arg199His Polymorphism rs2307243 - CES1 P23141 VAR_014595 p.Asp203Glu Polymorphism rs2307227 - CES1 P23141 VAR_046954 p.Gly143Glu Unclassified - - CES2 O00748 VAR_018396 p.Arg34Trp Polymorphism - - CES2 O00748 VAR_018397 p.Arg206His Polymorphism - - CES3 Q6UWW8 VAR_060699 p.Val129Ile Polymorphism - - CES3 Q6UWW8 VAR_060700 p.Ala151Thr Polymorphism - - CES3 Q6UWW8 VAR_060701 p.Tyr160His Polymorphism - - CES3 Q6UWW8 VAR_060702 p.Glu191Lys Polymorphism - - CES3 Q6UWW8 VAR_060703 p.Ile213Asn Polymorphism - - CES3 Q6UWW8 VAR_060704 p.Arg367Trp Polymorphism - - CES3 Q6UWW8 VAR_060705 p.Ala523Val Polymorphism - - CES3 Q6UWW8 VAR_060706 p.Ile555Val Polymorphism - - CES5A Q6NT32 VAR_036836 p.Arg71Gln Polymorphism rs2397965 - CES5A Q6NT32 VAR_036837 p.Glu261Lys Polymorphism rs11076126 - CES5A Q6NT32 VAR_036838 p.His344Gln Polymorphism rs11860946 - CES5A Q6NT32 VAR_036839 p.Gly499Arg Polymorphism rs16955812 - CES5A Q6NT32 VAR_036840 p.Asp537Glu Polymorphism rs11860456 - CETN3 O15182 VAR_030846 p.Val10Leu Polymorphism rs4873 - CETP P11597 VAR_004172 p.Asp459Gly Disease rs2303790 Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470] CETP P11597 VAR_013919 p.Gly331Ser Polymorphism rs5881 - CETP P11597 VAR_013920 p.Ala390Pro Polymorphism rs5880 - CETP P11597 VAR_013921 p.Val422Ile Polymorphism rs5882 - CETP P11597 VAR_013922 p.Arg468Gln Polymorphism rs1800777 - CETP P11597 VAR_013923 p.Val486Met Polymorphism rs5887 - CETP P11597 VAR_017018 p.Ala15Gly Polymorphism rs34065661 - CETP P11597 VAR_017019 p.Val385Met Polymorphism rs34855278 - CETP P11597 VAR_031127 p.Val455Met Polymorphism rs2228667 - CETP P11597 VAR_033098 p.Arg154Trp Polymorphism rs34716057 - CETP P11597 VAR_033099 p.Leu168Pro Disease - Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470] CETP P11597 VAR_033100 p.Arg299Cys Disease - Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470] CFB P00751 VAR_006492 p.Trp28Arg Polymorphism - - CFB P00751 VAR_006493 p.Trp28Gln Polymorphism - - CFB P00751 VAR_006494 p.Arg32Gln Polymorphism rs641153 - CFB P00751 VAR_006495 p.Ala736Ser Polymorphism - - CFB P00751 VAR_016274 p.Leu9His Polymorphism rs4151667 - CFB P00751 VAR_016275 p.Arg32Trp Polymorphism rs12614 - CFB P00751 VAR_016276 p.Gly252Ser Polymorphism rs4151651 - CFB P00751 VAR_016277 p.Lys565Glu Polymorphism rs4151659 - CFB P00751 VAR_016278 p.Asp651Glu Polymorphism rs4151660 - CFB P00751 VAR_063221 p.Phe286Leu Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063222 p.Lys323Glu Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063659 p.Ser166Pro Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063660 p.Arg203Gln Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063661 p.Ile242Leu Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063662 p.Lys323Gln Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063663 p.Met458Ile Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924] CFB P00751 VAR_063664 p.Lys533Arg Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924] CFC1 P0CG37 VAR_024322 p.Arg78Trp Polymorphism rs2579433 - CFC1 P0CG37 VAR_024323 p.Arg112Cys Disease - Visceral heterotaxy autosomal type 2 (HTX2) [MIM:605376] CFC1 P0CG37 VAR_024324 p.Arg189Cys Polymorphism - - CFD P00746 VAR_034866 p.Val213Gly Disease - Complement factor D deficiency (CFDD) [MIM:613912] CFD P00746 VAR_034867 p.Cys214Arg Disease - Complement factor D deficiency (CFDD) [MIM:613912] CFD P00746 VAR_034868 p.Ile248Met Polymorphism rs2230216 - CFDP1 Q9UEE9 VAR_048408 p.Ala60Thr Polymorphism rs16963331 - CFH P08603 VAR_001979 p.Tyr402His Polymorphism rs1061170 - CFH P08603 VAR_019405 p.Cys536Arg Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_019406 p.Cys959Tyr Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_019407 p.Leu1189Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_019408 p.Ser1191Leu Disease rs460897 Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_020261 p.Glu936Asp Polymorphism rs1065489 - CFH P08603 VAR_023836 p.Val62Ile Polymorphism rs800292 - CFH P08603 VAR_025092 p.Ile551Thr Polymorphism rs35453854 - CFH P08603 VAR_025093 p.Ser890Ile Polymorphism rs515299 - CFH P08603 VAR_025094 p.Val1007Ile Polymorphism - - CFH P08603 VAR_025095 p.Thr1017Ile Polymorphism rs34362004 - CFH P08603 VAR_025096 p.Asn1050Tyr Polymorphism rs35274867 - CFH P08603 VAR_025097 p.Ile1059Thr Polymorphism rs35343172 - CFH P08603 VAR_025864 p.Arg78Gly Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025865 p.Cys630Trp Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025866 p.Glu850Lys Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025867 p.Gln950His Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025868 p.Tyr951His Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025869 p.Thr956Met Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025870 p.Trp978Cys Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025871 p.Tyr1021Phe Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025872 p.Cys1043Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025873 p.Gln1076Glu Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025874 p.Asp1119Gly Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025875 p.Val1134Gly Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025876 p.Tyr1142Asp Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025877 p.Trp1157Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025878 p.Cys1163Trp Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025879 p.Trp1183Leu Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025880 p.Trp1183Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025881 p.Thr1184Arg Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025882 p.Gly1194Asp Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025883 p.Val1197Ala Disease rs460184 Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025884 p.Glu1198Ala Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025885 p.Arg1210Cys Disease - Age-related macular degeneration type 4 (ARMD4) [MIM:610698] CFH P08603 VAR_025885 p.Arg1210Cys Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025886 p.Arg1215Gly Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_025887 p.Arg1215Gln Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_025888 p.Pro1226Ser Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031978 p.Arg127Leu Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_031980 p.Gln400Lys Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031981 p.Cys431Ser Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_031982 p.Cys673Ser Disease - Complement factor H deficiency (CFHD) [MIM:609814] CFH P08603 VAR_031983 p.Cys673Tyr Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031984 p.His893Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031985 p.Cys915Ser Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_031986 p.Phe1199Ser Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_043892 p.Thr493Arg Polymorphism rs1061171 - CFH P08603 VAR_043893 p.Arg567Gly Unclassified - - CFH P08603 VAR_043894 p.Val1007Leu Polymorphism rs534399 - CFH P08603 VAR_043895 p.Arg1078Ser Unclassified - - CFH P08603 VAR_043896 p.Gln1143Glu Polymorphism rs34247141 - CFH P08603 VAR_055683 p.Asn997Thr Polymorphism rs17575212 - CFH P08603 VAR_055684 p.Ala1010Thr Polymorphism rs11539862 - CFH P08603 VAR_063648 p.Cys325Tyr Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_063649 p.Val609Ile Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_063650 p.Ile1169Leu Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFH P08603 VAR_063651 p.Trp1183Cys Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] CFHR1 Q03591 VAR_001980 p.His157Tyr Polymorphism rs425757 - CFHR1 Q03591 VAR_001981 p.Leu159Val Polymorphism - - CFHR1 Q03591 VAR_001982 p.Glu175Gln Polymorphism rs388862 - CFHR1 Q03591 VAR_048816 p.Ala296Val Polymorphism rs16840561 - CFHR3 Q02985 VAR_048817 p.His71Tyr Polymorphism rs17575274 - CFHR4 Q92496 VAR_047151 p.Gly306Glu Polymorphism rs10494745 - CFHR5 Q9BXR6 VAR_035827 p.Asn216Ser Unclassified - A breast cancer sample CFHR5 Q9BXR6 VAR_048818 p.Pro46Ser Polymorphism rs12097550 - CFHR5 Q9BXR6 VAR_048819 p.Arg356His Polymorphism rs35662416 - CFHR5 Q9BXR6 VAR_048820 p.Leu521Ile Polymorphism rs35957013 - CFHR5 Q9BXR6 VAR_048821 p.Leu529Arg Polymorphism rs16840956 - CFHR5 Q9BXR6 VAR_063652 p.Tyr277Asn Unclassified - - CFHR5 Q9BXR6 VAR_063653 p.Val379Leu Unclassified - - CFI P05156 VAR_026757 p.His418Leu Disease - Complement factor I deficiency (CFI deficiency) [MIM:610984] CFI P05156 VAR_030343 p.Ile340Thr Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFI P05156 VAR_030344 p.Asp524Val Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFI P05156 VAR_034907 p.Gly243Asp Disease - Complement factor I deficiency (CFI deficiency) [MIM:610984] CFI P05156 VAR_034908 p.Thr300Ala Polymorphism rs11098044 - CFI P05156 VAR_063665 p.Pro64Leu Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063666 p.Gly119Arg Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063667 p.His183Arg Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063668 p.Gly287Arg Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063669 p.Arg317Trp Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063670 p.Ile416Leu Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063671 p.Asp519Asn Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFI P05156 VAR_063672 p.Lys522Thr Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] CFL2 Q9Y281 VAR_031989 p.Ala35Thr Disease - Nemaline myopathy type 7 (NEM7) [MIM:610687] CFL2 Q9Y281 VAR_036458 p.Ile47Met Unclassified - A breast cancer sample CFLAR O15519 VAR_048619 p.Leu203Ile Polymorphism rs13424615 - CFP P27918 VAR_002002 p.Arg100Trp Disease - Properdin deficiency (PFD) [MIM:312060] CFP P27918 VAR_002003 p.Gln343Arg Disease - Properdin deficiency (PFD) [MIM:312060] CFP P27918 VAR_002004 p.Tyr414Asp Disease - Properdin deficiency (PFD) [MIM:312060] CFP P27918 VAR_013139 p.Gly298Val Disease rs28935480 Properdin deficiency (PFD) [MIM:312060] CFP P27918 VAR_020395 p.Val53Met Polymorphism rs8177068 - CFP P27918 VAR_020396 p.Pro204Leu Polymorphism rs8177076 - CFP P27918 VAR_020397 p.Gly250Ser Polymorphism rs8177077 - CFP P27918 VAR_035813 p.Thr3Ile Unclassified - A breast cancer sample CFTR P13569 VAR_000101 p.Ser13Phe Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000102 p.Arg31Cys Polymorphism rs1800073 - CFTR P13569 VAR_000103 p.Arg31Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000104 p.Ser42Phe Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000105 p.Asp44Gly Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000106 p.Asp44Val Polymorphism rs1800074 - CFTR P13569 VAR_000107 p.Ser50Tyr Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000108 p.Trp57Gly Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000109 p.Pro67Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000110 p.Arg74Trp Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000111 p.Arg75Gln Polymorphism rs1800076 - CFTR P13569 VAR_000112 p.Gly85Glu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000113 p.Phe87Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000114 p.Gly91Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000115 p.Glu92Lys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000116 p.Gln98Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000117 p.Ile105Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000118 p.Tyr109Cys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000119 p.Asp110His Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000120 p.Pro111Leu Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000121 p.Arg117Cys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000122 p.Arg117His Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000122 p.Arg117His Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000123 p.Arg117Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000124 p.Arg117Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000125 p.Ala120Thr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000126 p.His139Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000127 p.Ala141Asp Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000128 p.Ile148Thr Disease rs35516286 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000129 p.Gly149Arg Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000130 p.Gly178Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000132 p.Glu193Lys Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000132 p.Glu193Lys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000133 p.His199Gln Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000134 p.His199Tyr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000135 p.Pro205Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000136 p.Leu206Trp Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000137 p.Cys225Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000138 p.Met244Lys Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000139 p.Arg258Gly Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000140 p.Asn287Tyr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000141 p.Arg297Gln Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000142 p.Tyr301Cys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000143 p.Ser307Asn Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000144 p.Phe311Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000146 p.Gly314Glu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000147 p.Gly314Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000148 p.Arg334Trp Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000150 p.Ile336Lys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000151 p.Thr338Ile Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000152 p.Leu346Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000153 p.Arg347His Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000154 p.Arg347Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000155 p.Arg347Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000156 p.Arg352Gln Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000157 p.Gln359Lys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000160 p.Ala455Glu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000161 p.Val456Phe Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000162 p.Gly458Val Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000163 p.Leu467Phe Polymorphism rs1800089 - CFTR P13569 VAR_000164 p.Val470Met Polymorphism rs213950 - CFTR P13569 VAR_000165 p.Gly480Cys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000166 p.Ser492Phe Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000167 p.Glu504Gln Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000168 p.Ile506Val Polymorphism - - CFTR P13569 VAR_000169 p.Ile507Val Polymorphism rs1800091 - CFTR P13569 VAR_000172 p.Phe508Cys Polymorphism rs1800093 - CFTR P13569 VAR_000173 p.Asp513Gly Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000174 p.Val520Phe Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000175 p.Gly544Val Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000176 p.Ser549Asn Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000177 p.Ser549Ile Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000178 p.Ser549Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000179 p.Gly551Asp Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000180 p.Gly551Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000181 p.Arg553Gln Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000182 p.Leu558Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000183 p.Ala559Thr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000184 p.Arg560Lys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000185 p.Arg560Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000186 p.Arg560Thr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000187 p.Val562Ile Polymorphism rs1800097 - CFTR P13569 VAR_000188 p.Val562Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000189 p.Tyr563Asn Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000190 p.Tyr569Cys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000191 p.Tyr569Asp Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000192 p.Tyr569His Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000193 p.Leu571Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000194 p.Asp572Asn Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000195 p.Pro574His Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000196 p.Gly576Ala Polymorphism rs1800098 - CFTR P13569 VAR_000197 p.Asp579Gly Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000198 p.Ile601Phe Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000199 p.Leu610Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000200 p.Ala613Thr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000201 p.Asp614Gly Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000202 p.Ile618Thr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000203 p.Leu619Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000204 p.His620Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000205 p.His620Gln Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000206 p.Gly622Asp Unclassified - - CFTR P13569 VAR_000207 p.Gly628Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000208 p.Leu633Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000209 p.Asp648Val Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000210 p.Asp651Asn Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000211 p.Thr665Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000212 p.Arg668Cys Polymorphism rs1800100 - CFTR P13569 VAR_000213 p.Phe693Leu Polymorphism rs1800101 - CFTR P13569 VAR_000214 p.Val754Met Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000215 p.Arg766Met Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000216 p.Arg792Gly Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000217 p.Ala800Gly Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000218 p.Ile807Met Disease rs1800103 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000219 p.Glu822Lys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000220 p.Glu826Lys Unclassified - - CFTR P13569 VAR_000221 p.Cys866Tyr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000222 p.Ser912Leu Polymorphism - - CFTR P13569 VAR_000223 p.Tyr913Cys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000224 p.Tyr917Cys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000225 p.His949Tyr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000226 p.Met952Ile Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000227 p.Leu997Phe Disease rs1800111 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000228 p.Ile1005Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000229 p.Ala1006Glu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000230 p.Pro1013Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000231 p.Met1028Ile Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000232 p.Phe1052Val Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000233 p.Gly1061Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000234 p.Leu1065Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000235 p.Leu1065Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000236 p.Arg1066Cys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000237 p.Arg1066His Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000238 p.Arg1066Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000239 p.Ala1067Thr Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000240 p.Ala1067Val Polymorphism rs1800114 - CFTR P13569 VAR_000241 p.Arg1070Gln Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000242 p.Arg1070Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000243 p.Gln1071Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000244 p.Pro1072Leu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000245 p.Leu1077Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000246 p.His1085Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000247 p.Trp1098Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000248 p.Met1101Lys Disease rs36210737 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000249 p.Met1137Val Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000251 p.Asp1152His Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000252 p.Arg1162Leu Polymorphism rs1800120 - CFTR P13569 VAR_000253 p.Thr1220Ile Polymorphism rs1800123 - CFTR P13569 VAR_000254 p.Ile1234Val Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000255 p.Ser1235Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000256 p.Gly1244Glu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000257 p.Gly1249Glu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000258 p.Ser1251Asn Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000259 p.Ser1255Pro Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000260 p.Asp1270Asn Disease rs11971167 Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000261 p.Trp1282Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000262 p.Arg1283Met Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000263 p.Phe1286Ser Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000264 p.Gln1291His Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000265 p.Gln1291Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000266 p.Asn1303His Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000267 p.Asn1303Lys Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000268 p.Gly1349Asp Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_000269 p.Ala1364Val Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_000270 p.Val1397Glu Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_009895 p.Leu138Pro Polymorphism rs1800078 - CFTR P13569 VAR_009896 p.Arg170His Polymorphism rs1800079 - CFTR P13569 VAR_009897 p.Ser182Gly Polymorphism rs1800080 - CFTR P13569 VAR_009898 p.Val322Met Polymorphism rs1800085 - CFTR P13569 VAR_009899 p.Thr351Ser Polymorphism rs1800086 - CFTR P13569 VAR_009900 p.Gln353His Polymorphism rs1800087 - CFTR P13569 VAR_009901 p.Ile506Met Polymorphism rs1800092 - CFTR P13569 VAR_009902 p.Ser654Gly Polymorphism rs1800099 - CFTR P13569 VAR_009903 p.Tyr903His Polymorphism rs1800106 - CFTR P13569 VAR_009904 p.Ser909Ile Polymorphism rs1800107 - CFTR P13569 VAR_009905 p.Leu967Ser Polymorphism rs1800110 - CFTR P13569 VAR_011564 p.Arg1070Trp Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR P13569 VAR_011565 p.Met1101Arg Disease - Cystic fibrosis (CF) [MIM:219700] CFTR P13569 VAR_048150 p.Lys532Glu Polymorphism rs35032490 - CFTR P13569 VAR_048151 p.Ser605Phe Polymorphism rs766874 - CFTR P13569 VAR_048152 p.Arg1453Trp Polymorphism rs4148725 - CGB1 A6NKQ9 VAR_055838 p.Pro185Ser Polymorphism rs35371968 - CGB P01233 VAR_003188 p.Asp137Ala Polymorphism rs7452 - CGB P01233 VAR_014585 p.Phe4Leu Polymorphism rs6516 - CGB P01233 VAR_014586 p.Lys22Arg Polymorphism rs6518 - CGB P01233 VAR_014587 p.Thr35Ile Polymorphism rs6515 - CGB P01233 VAR_014588 p.Asn97Asp Polymorphism rs6519 - CGB P01233 VAR_015231 p.Thr18Ala Polymorphism - - CGB P01233 VAR_015232 p.Pro24Met Unclassified - - CGB P01233 VAR_015233 p.Arg28Trp Polymorphism - - CGB P01233 VAR_015234 p.Arg30His Polymorphism - - CGB P01233 VAR_015235 p.Ser147Cys Polymorphism - - CGNL1 Q0VF96 VAR_037606 p.Thr380Pro Polymorphism rs1280395 - CGNL1 Q0VF96 VAR_037607 p.Ser459Phe Polymorphism rs7182648 - CGNL1 Q0VF96 VAR_037608 p.Thr511Ala Polymorphism rs1280396 - CGNL1 Q0VF96 VAR_037609 p.Leu1101Val Polymorphism rs1620402 - CGNL1 Q0VF96 VAR_037610 p.Met1270Val Polymorphism rs16977594 - CGN Q9P2M7 VAR_057809 p.Arg479Gln Polymorphism rs12038198 - CGREF1 Q99674 VAR_047648 p.Ala212Val Polymorphism rs11893478 - CGREF1 Q99674 VAR_047649 p.Lys232Asn Polymorphism rs11889831 - CGREF1 Q99674 VAR_047650 p.Gly243Glu Polymorphism rs1057389 - CGREF1 Q99674 VAR_061088 p.Ile116Met Polymorphism rs2384572 - CGRRF1 Q99675 VAR_052081 p.Cys117Tyr Polymorphism rs11555279 - CH25H O95992 VAR_048899 p.Leu133Pro Polymorphism rs17117295 - CHAC2 Q8WUX2 VAR_038123 p.Arg82Gly Polymorphism rs17851583 - CHADL Q6NUI6 VAR_059805 p.Gln710Arg Polymorphism rs9619955 - CHADL Q6NUI6 VAR_061805 p.Asp721Asn Polymorphism rs9619954 - CHAD O15335 VAR_030631 p.Thr350Ile Polymorphism rs2231510 - CHAD O15335 VAR_052019 p.Arg312Gln Polymorphism rs35218093 - CHAF1A Q13111 VAR_055329 p.Asp167Val Polymorphism rs35651457 - CHAF1A Q13111 VAR_055330 p.Met239Val Polymorphism rs2230635 - CHAF1A Q13111 VAR_055331 p.Lys850Arg Polymorphism rs8100525 - CHAF1A Q13111 VAR_055332 p.Ala923Val Polymorphism rs9352 - CHAF1A Q13111 VAR_055333 p.Ser950Ala Polymorphism rs243383 - CHAF1B Q13112 VAR_053387 p.Lys506Gln Polymorphism rs2230638 - CHAMP1 Q96JM3 VAR_027270 p.Leu568Val Polymorphism rs3764522 - CHAMP1 Q96JM3 VAR_027271 p.Pro604Arg Polymorphism rs12428067 - CHAMP1 Q96JM3 VAR_052910 p.Lys591Arg Polymorphism rs35564629 - CHAT P28329 VAR_011666 p.Leu210Pro Disease rs28930071 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_011667 p.Pro211Ala Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_011668 p.Ile305Thr Disease rs28929482 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_011669 p.Arg420Cys Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_011670 p.Glu441Lys Disease rs28930070 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_011671 p.Arg482Gly Disease rs28929481 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_011672 p.Ser498Leu Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_011673 p.Val506Leu Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_011674 p.Arg560His Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_011675 p.Ala120Thr Polymorphism rs3810950 - CHAT P28329 VAR_011676 p.Ala392Gly Polymorphism - - CHAT P28329 VAR_038605 p.Ile336Thr Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] CHAT P28329 VAR_046683 p.Asp47Glu Polymorphism rs3810948 - CHAT P28329 VAR_046684 p.Arg222Pro Polymorphism rs8178989 - CHAT P28329 VAR_046685 p.Leu243Phe Polymorphism rs8178990 - CHAT P28329 VAR_046686 p.Pro299Leu Polymorphism rs868749 - CHAT P28329 VAR_046687 p.Asp400Asn Polymorphism rs8178991 - CHAT P28329 VAR_046688 p.Val461Met Polymorphism rs4838544 - CHCHD2 Q9Y6H1 VAR_048699 p.His78Asn Polymorphism rs11546418 - CHCHD6 Q9BRQ6 VAR_024412 p.Ala95Ser Polymorphism rs2272487 - CHD1L Q86WJ1 VAR_042954 p.Arg25Pro Polymorphism rs11588753 - CHD1L Q86WJ1 VAR_042955 p.His350Gln Polymorphism rs17356233 - CHD1L Q86WJ1 VAR_042956 p.Glu649Ala Polymorphism rs13374920 - CHD1L Q86WJ1 VAR_042957 p.Ser743Cys Polymorphism rs2275249 - CHD1L Q86WJ1 VAR_042958 p.Ala885Ser Polymorphism rs4950394 - CHD1 O14646 VAR_055652 p.Pro264Thr Polymorphism rs10062803 - CHD2 O14647 VAR_061099 p.Gly1574Ala Polymorphism rs56227200 - CHD3 Q12873 VAR_048728 p.Ala3Val Polymorphism rs931543 - CHD4 Q14839 VAR_031674 p.Glu139Asp Polymorphism rs1639122 - CHD4 Q14839 VAR_031675 p.Ser1648Leu Polymorphism rs35512811 - CHD4 Q14839 VAR_031676 p.Ile1655Val Polymorphism rs16932768 - CHD5 Q8TDI0 VAR_035475 p.Val45Met Unclassified - A breast cancer sample CHD5 Q8TDI0 VAR_035476 p.Asp119Asn Unclassified - A breast cancer sample CHD5 Q8TDI0 VAR_035477 p.Arg667Gly Unclassified - A breast cancer sample CHD5 Q8TDI0 VAR_048729 p.Ser1253Ile Polymorphism rs6657997 - CHD5 Q8TDI0 VAR_048730 p.Ser1539Pro Polymorphism rs2843493 - CHD6 Q8TD26 VAR_023363 p.His2161Gln Polymorphism rs3817893 - CHD6 Q8TD26 VAR_059213 p.Gln780His Polymorphism rs4474937 - CHD7 Q9P2D1 VAR_021059 p.Ile1028Val Disease - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_021060 p.Leu1257Arg Disease - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033245 p.Trp1031Gly Disease - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033246 p.Gln1214Arg Disease - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033247 p.Leu1294Pro Disease - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033248 p.Leu1815Pro Disease - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033249 p.His2096Arg Disease - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033250 p.Arg2319Ser Disease - CHARGE syndrome (CHARGES) [MIM:214800] CHD7 Q9P2D1 VAR_033251 p.Phe2750Leu Polymorphism rs3750308 - CHD7 Q9P2D1 VAR_048731 p.Met340Val Polymorphism rs41305525 - CHD7 Q9P2D1 VAR_054623 p.His55Arg Disease - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_054624 p.Ser834Phe Disease - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_054625 p.Ala2789Thr Polymorphism - - CHD7 Q9P2D1 VAR_054626 p.Pro2880Leu Disease - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD7 Q9P2D1 VAR_054627 p.Lys2948Glu Disease - Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370] CHD9 Q3L8U1 VAR_047355 p.Asp2312Glu Polymorphism rs6499548 - CHDH Q8NE62 VAR_020421 p.Glu40Ala Polymorphism rs9001 - CHDH Q8NE62 VAR_049357 p.Asn441Ser Polymorphism rs34974961 - CHDH Q8NE62 VAR_055097 p.Leu78Arg Polymorphism rs12676 - CHEK1 O14757 VAR_021123 p.Arg156Gln Polymorphism rs3731410 - CHEK1 O14757 VAR_024571 p.Ile471Val Polymorphism rs506504 - CHEK1 O14757 VAR_040407 p.Glu223Val Polymorphism rs35817404 - CHEK1 O14757 VAR_040408 p.Val312Met Polymorphism rs34097480 - CHEK2 O96017 VAR_008554 p.Arg145Trp Unclassified - Colon cancer CHEK2 O96017 VAR_008554 p.Arg145Trp Disease - Li-Fraumeni syndrome 2 (LFS2) [MIM:609265] CHEK2 O96017 VAR_008555 p.Ile157Thr Polymorphism rs17879961 - CHEK2 O96017 VAR_019101 p.Ala17Ser Unclassified - An osteogenic sarcoma sample CHEK2 O96017 VAR_019102 p.Pro85Leu Unclassified rs17883862 An osteogenic sarcoma sample CHEK2 O96017 VAR_019103 p.Arg180Cys Disease rs77130927 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019104 p.Arg181Cys Disease rs137853010 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019105 p.Arg181His Disease rs121908701 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019106 p.Glu239Lys Disease - Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019107 p.Glu64Lys Disease - Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019108 p.Arg145Pro Disease - Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019109 p.Gly167Arg Disease - Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019110 p.Arg180His Disease rs137853009 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019111 p.Ile251Phe Disease - Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019112 p.Arg318His Disease rs143611747 Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019113 p.Thr323Pro Disease - Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019114 p.Tyr327Cys Disease - Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_019115 p.Thr476Lys Disease - Prostate cancer (PC) [MIM:176807] CHEK2 O96017 VAR_021117 p.Leu436Met Polymorphism rs17882922 - CHEK2 O96017 VAR_021118 p.Asn446Lys Polymorphism rs17880867 - CHEK2 O96017 VAR_021119 p.Phe447Ile Polymorphism rs17881473 - CHEK2 O96017 VAR_021120 p.Ile448Ser Polymorphism rs17886163 - CHEK2 O96017 VAR_021121 p.Glu501Lys Polymorphism rs17883172 - CHEK2 O96017 VAR_021122 p.Leu512Val Polymorphism rs17882942 - CHEK2 O96017 VAR_022461 p.Arg117Gly Polymorphism rs28909982 - CHEK2 O96017 VAR_022462 p.Arg137Gln Unclassified - - CHEK2 O96017 VAR_022463 p.Ser428Phe Polymorphism rs137853011 - CHEK2 O96017 VAR_024572 p.Arg406His Polymorphism rs299671 - CHEK2 O96017 VAR_026630 p.Thr59Lys Unclassified - Multiple cancers CHEK2 O96017 VAR_029154 p.Asp347Asn Polymorphism rs28909980 - CHEK2 O96017 VAR_029155 p.Ser500Cys Polymorphism rs28909981 - CHERP Q8IWX8 VAR_034833 p.Asn199His Polymorphism rs1043448 - CHFR Q96EP1 VAR_017582 p.Pro166Leu Unclassified - A patient with non small cell lung carcinomas CHFR Q96EP1 VAR_017583 p.Arg202Pro Unclassified - A patient with non small cell lung carcinomas CHFR Q96EP1 VAR_017584 p.Gly270Arg Polymorphism - - CHFR Q96EP1 VAR_017585 p.Ala497Val Polymorphism rs2306541 - CHFR Q96EP1 VAR_017586 p.Phe536Ser Unclassified - A patient with non small cell lung carcinomas CHFR Q96EP1 VAR_017587 p.Val580Met Polymorphism rs2306536 - CHGA P10645 VAR_025636 p.Glu176Lys Polymorphism rs9658654 - CHGA P10645 VAR_025637 p.Glu264Asp Polymorphism rs9658655 - CHGA P10645 VAR_025638 p.Arg271Trp Polymorphism rs9658662 - CHGA P10645 VAR_025639 p.Ala274Gly Polymorphism rs9658663 - CHGA P10645 VAR_025640 p.Gly315Ser Polymorphism rs9658664 - CHGA P10645 VAR_025641 p.Leu332Pro Polymorphism rs9658665 - CHGA P10645 VAR_025642 p.Asp369Asn Polymorphism rs2228575 - CHGA P10645 VAR_025643 p.Gly382Ser Polymorphism rs9658667 - CHGA P10645 VAR_025644 p.Pro388Leu Polymorphism rs9658668 - CHGA P10645 VAR_025645 p.Arg399Trp Polymorphism rs729940 - CHGA P10645 VAR_047417 p.Arg61Gln Polymorphism rs3742712 - CHGB P05060 VAR_020287 p.Arg178Gln Polymorphism rs910122 - CHGB P05060 VAR_022012 p.Arg417His Polymorphism rs742711 - CHGB P05060 VAR_024414 p.Lys117Asn Polymorphism rs236150 - CHGB P05060 VAR_024415 p.Thr243Ala Polymorphism rs236151 - CHGB P05060 VAR_024416 p.Ala353Gly Polymorphism rs236152 - CHGB P05060 VAR_028235 p.Asp145Asn Polymorphism rs6133278 - CHGB P05060 VAR_028236 p.Asn200His Polymorphism rs881118 - CHGB P05060 VAR_028237 p.Arg232Gln Polymorphism rs6139873 - CHGB P05060 VAR_028238 p.Pro413Leu Polymorphism rs742710 - CHGB P05060 VAR_043578 p.Ser93Thr Polymorphism rs6085324 - CHI3L1 P36222 VAR_019838 p.Arg145Gly Polymorphism rs880633 - CHI3L1 P36222 VAR_019839 p.Ile311Thr Polymorphism rs1049407 - CHI3L2 Q15782 VAR_033731 p.Val184Ile Polymorphism rs34049547 - CHI3L2 Q15782 VAR_049198 p.Ala182Val Polymorphism rs11556868 - CHI3L2 Q15782 VAR_061189 p.Arg318Trp Polymorphism rs13721 - CHIA Q9BZP6 VAR_033730 p.Val324Gly Polymorphism rs2256721 - CHIA Q9BZP6 VAR_049192 p.Gly102Arg Polymorphism rs3818822 - CHIA Q9BZP6 VAR_049193 p.Ile339Val Polymorphism rs2275253 - CHIA Q9BZP6 VAR_049194 p.Phe354Ser Polymorphism rs2275254 - CHIA Q9BZP6 VAR_049195 p.Phe377Leu Polymorphism rs36011905 - CHIA Q9BZP6 VAR_049196 p.Val432Gly Polymorphism rs2256721 - CHIA Q9BZP6 VAR_063030 p.Asn45Asp Polymorphism rs41282492 - CHIA Q9BZP6 VAR_063031 p.Asp47Asn Polymorphism rs41282494 - CHIA Q9BZP6 VAR_063032 p.Arg61Met Polymorphism rs41282496 - CHIA Q9BZP6 VAR_063033 p.Lys125Arg Polymorphism - - CHID1 Q9BWS9 VAR_031173 p.Arg331Gln Polymorphism rs1127800 - CHID1 Q9BWS9 VAR_031174 p.Ala338Val Polymorphism rs6682 - CHIT1 Q13231 VAR_022138 p.Gly102Ser Polymorphism rs2297950 - CHIT1 Q13231 VAR_024458 p.Ala442Gly Polymorphism rs1065761 - CHIT1 Q13231 VAR_049190 p.Arg40His Polymorphism rs35920428 - CHIT1 Q13231 VAR_049191 p.Gln171His Polymorphism rs12562058 - CHKA P35790 VAR_054863 p.Ser220Gly Polymorphism rs17853641 - CHKA P35790 VAR_054864 p.Leu422Gln Polymorphism rs17853642 - CHL1 O00533 VAR_027167 p.Leu17Phe Polymorphism rs2272522 - CHL1 O00533 VAR_027168 p.Thr287Ala Polymorphism rs13060847 - CHL1 O00533 VAR_027169 p.Ile1034Val Polymorphism rs6442827 - CHL1 O00533 VAR_035505 p.Leu411Ile Unclassified - A colorectal cancer sample CHM P24386 VAR_008273 p.Gln471Leu Disease - Choroideremia (CHM) [MIM:303100] CHMP2B Q9UQN3 VAR_023383 p.Asp148Tyr Disease - Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795] CHMP2B Q9UQN3 VAR_038373 p.Ile29Val Disease - Amyotrophic lateral sclerosis type 17 (ALS17) [MIM:614696] CHMP2B Q9UQN3 VAR_038374 p.Gln206His Disease - Amyotrophic lateral sclerosis type 17 (ALS17) [MIM:614696] CHMP4A Q9BY43 VAR_023384 p.Gly153Arg Polymorphism rs2295322 - CHMP4B Q9H444 VAR_037579 p.Asp129Val Disease - Cataract posterior polar type 3 (CTPP3) [MIM:605387] CHMP4B Q9H444 VAR_037580 p.Glu161Lys Disease - Cataract posterior polar type 3 (CTPP3) [MIM:605387] CHMP4C Q96CF2 VAR_052028 p.Ala232Thr Polymorphism rs35094336 - CHMP5 Q9NZZ3 VAR_052029 p.Ser86Pro Polymorphism rs11540558 - CHMP6 Q96FZ7 VAR_061807 p.Gly55Ser Polymorphism rs61037507 - CHN1 P15882 VAR_047940 p.Leu20Phe Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047941 p.Ile126Met Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047942 p.Tyr143His Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047943 p.Ala223Val Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047944 p.Gly228Ser Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047945 p.Pro252Gln Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356] CHN1 P15882 VAR_047946 p.Glu313Lys Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356] CHN2 P52757 VAR_022118 p.His204Arg Polymorphism rs3750103 - CHN2 P52757 VAR_049136 p.Pro438Ser Polymorphism rs34971642 - CHORDC1 Q9UHD1 VAR_038676 p.Ala329Asp Polymorphism rs1045861 - CHP2 O43745 VAR_048664 p.Arg127Pro Polymorphism rs35641939 - CHPF Q8IZ52 VAR_047394 p.Gln371Arg Polymorphism rs6436155 - CHPT1 Q8WUD6 VAR_032612 p.Phe162Ser Polymorphism rs3205421 - CHPT1 Q8WUD6 VAR_032613 p.Tyr323Ser Unclassified - - CHRAC1 Q9NRG0 VAR_013755 p.Cys55Tyr Polymorphism rs2231522 - CHRAC1 Q9NRG0 VAR_013756 p.His126Arg Polymorphism rs2231524 - CHRDL2 Q6WN34 VAR_055651 p.Pro335Leu Polymorphism rs35903991 - CHRD Q9H2X0 VAR_021517 p.Met630Leu Polymorphism rs16858780 - CHRD Q9H2X0 VAR_048727 p.Pro94Ser Polymorphism rs34095724 - CHRM3 P20309 VAR_033461 p.Val65Ile Polymorphism rs2067481 - CHRM3 P20309 VAR_049368 p.Leu431Pro Polymorphism rs16839102 - CHRNA10 Q9GZZ6 VAR_048172 p.Glu355Ala Polymorphism rs2231547 - CHRNA1 P02708 VAR_000282 p.Gly198Ser Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNA1 P02708 VAR_000283 p.Val201Met Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNA1 P02708 VAR_000284 p.Asn262Lys Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNA1 P02708 VAR_000285 p.Thr299Ile Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNA1 P02708 VAR_000286 p.Ser314Ile Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNA1 P02708 VAR_021206 p.Phe278Val Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRNA1 P02708 VAR_021207 p.Val294Phe Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNA1 P02708 VAR_021208 p.Phe301Leu Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRNA1 P02708 VAR_021209 p.Val330Ile Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRNA1 P02708 VAR_038599 p.Val177Leu Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRNA1 P02708 VAR_038600 p.Asp383Val Polymorphism rs6739001 - CHRNA1 P02708 VAR_038601 p.Cys463Trp Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNA1 P02708 VAR_043904 p.Arg254Leu Disease - Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] CHRNA2 Q15822 VAR_027639 p.Thr22Ile Polymorphism rs2472553 - CHRNA2 Q15822 VAR_027640 p.Thr125Ala Polymorphism rs891398 - CHRNA2 Q15822 VAR_027641 p.Ile279Asn Disease - Nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353] CHRNA3 P32297 VAR_059110 p.Arg37His Polymorphism rs8192475 - CHRNA4 P43681 VAR_000295 p.Ser280Phe Disease - Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513] CHRNA4 P43681 VAR_017531 p.Ser280Leu Disease - Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513] CHRNA4 P43681 VAR_023402 p.Glu387Gly Polymorphism rs45604738 - CHRNA4 P43681 VAR_023403 p.Ser517Leu Polymorphism rs45622132 - CHRNA5 P30532 VAR_046211 p.Val134Ile Polymorphism rs2229961 - CHRNA5 P30532 VAR_046212 p.Asp398Asn Polymorphism rs16969968 - CHRNA6 Q15825 VAR_048171 p.Asn447Ser Polymorphism rs16891583 - CHRNA9 Q9UGM1 VAR_025425 p.Asn442Ser Polymorphism rs10009228 - CHRNA9 Q9UGM1 VAR_031151 p.Arg96Gln Polymorphism rs10024518 - CHRNA9 Q9UGM1 VAR_060996 p.Ala315Val Polymorphism rs55633891 - CHRNB1 P11230 VAR_000287 p.Leu285Met Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNB1 P11230 VAR_000288 p.Val289Met Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNB1 P11230 VAR_048169 p.Glu32Gly Polymorphism rs17856697 - CHRNB2 P17787 VAR_012714 p.Val287Leu Disease - Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375] CHRNB2 P17787 VAR_012715 p.Val287Met Disease - Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375] CHRNB2 P17787 VAR_021564 p.Gln397His Polymorphism rs55685423 - CHRNB3 Q05901 VAR_048173 p.Lys451Glu Polymorphism rs35327613 - CHRNB4 P30926 VAR_013241 p.Arg136Trp Polymorphism - - CHRNB4 P30926 VAR_013242 p.Ser140Gly Polymorphism rs56218866 - CHRNB4 P30926 VAR_013243 p.Met467Val Polymorphism - - CHRNB4 P30926 VAR_048174 p.Thr91Ile Polymorphism rs12914008 - CHRND Q07001 VAR_019566 p.Ser289Phe Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRND Q07001 VAR_021210 p.Glu80Lys Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRND Q07001 VAR_021211 p.Pro271Gln Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRND Q07001 VAR_021212 p.Gln288Glu Disease rs41265127 Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRND Q07001 VAR_036031 p.Asp398Glu Unclassified - A breast cancer sample CHRND Q07001 VAR_043905 p.Phe95Leu Disease - Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] CHRNE Q04844 VAR_000289 p.Pro141Leu Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRNE Q04844 VAR_000290 p.Arg167Leu Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] CHRNE Q04844 VAR_000291 p.Pro265Leu Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] CHRNE Q04844 VAR_000292 p.Thr284Pro Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNE Q04844 VAR_000293 p.Leu289Phe Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNE Q04844 VAR_000294 p.Arg331Trp Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] CHRNE Q04844 VAR_019567 p.Leu98Pro Disease rs28929768 Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNE Q04844 VAR_019568 p.Leu241Phe Disease rs28999110 Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] CHRNE Q04844 VAR_021213 p.Gly13Arg Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRNE Q04844 VAR_021214 p.Ser163Leu Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRNE Q04844 VAR_021215 p.Ala431Pro Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] CHRNE Q04844 VAR_048170 p.Gly18Val Polymorphism rs4790235 - CHRNG P07510 VAR_030753 p.Val107Gly Disease - Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000] CHRNG P07510 VAR_030753 p.Val107Gly Disease - Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] CHRNG P07510 VAR_030754 p.Ala149Thr Polymorphism rs2289080 - CHRNG P07510 VAR_030755 p.Arg239Cys Disease - Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000] CHRNG P07510 VAR_030755 p.Arg239Cys Disease - Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] CHST10 O43529 VAR_021470 p.Asp258Asn Polymorphism rs3748932 - CHST10 O43529 VAR_033737 p.Val20Leu Polymorphism rs35177621 - CHST12 Q9NRB3 VAR_021471 p.Pro52His Polymorphism rs3735099 - CHST12 Q9NRB3 VAR_021472 p.Thr61Ser Polymorphism rs3735100 - CHST12 Q9NRB3 VAR_021473 p.Arg109Ser Polymorphism rs17132395 - CHST12 Q9NRB3 VAR_021474 p.Ala145Pro Polymorphism rs17132399 - CHST12 Q9NRB3 VAR_033738 p.Pro94Leu Polymorphism rs12536223 - CHST13 Q8NET6 VAR_021477 p.Ala271Val Polymorphism rs1056523 - CHST13 Q8NET6 VAR_021478 p.Arg317Gln Polymorphism rs1056522 - CHST13 Q8NET6 VAR_053698 p.Pro146Ser Polymorphism rs34311016 - CHST14 Q8NCH0 VAR_063754 p.Arg135Gly Disease - Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] CHST14 Q8NCH0 VAR_063755 p.Leu137Gln Disease - Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] CHST14 Q8NCH0 VAR_063756 p.Arg213Pro Disease rs121908257 Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] CHST14 Q8NCH0 VAR_063757 p.Tyr293Cys Disease rs121908258 Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] CHST14 Q8NCH0 VAR_064555 p.Pro281Leu Disease - Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] CHST14 Q8NCH0 VAR_064556 p.Cys289Ser Disease - Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] CHST3 Q7LGC8 VAR_021413 p.Arg304Gln Disease rs28937593 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] CHST3 Q7LGC8 VAR_021414 p.Ile348Met Polymorphism rs3740128 - CHST3 Q7LGC8 VAR_021415 p.Arg357Gln Polymorphism rs3740129 - CHST3 Q7LGC8 VAR_047856 p.Arg222Trp Disease - Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] CHST3 Q7LGC8 VAR_047857 p.Leu259Pro Disease - Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] CHST3 Q7LGC8 VAR_047858 p.Leu307Pro Disease - Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] CHST3 Q7LGC8 VAR_047859 p.Glu372Lys Disease - Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] CHST4 Q8NCG5 VAR_052528 p.His361Gln Polymorphism rs3813744 - CHST5 Q9GZS9 VAR_021416 p.Thr318Met Polymorphism rs3826107 - CHST5 Q9GZS9 VAR_057993 p.Ala311Thr Polymorphism rs7206332 - CHST6 Q9GZX3 VAR_021417 p.Leu15Pro Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021418 p.Leu22Arg Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021419 p.Pro31Ser Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021420 p.His42Tyr Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021421 p.Arg50Cys Disease rs28937877 Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021422 p.Ser51Leu Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021423 p.Gly52Asp Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021424 p.Ser53Leu Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021425 p.Leu59Pro Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021426 p.Asn61Thr Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021427 p.Val66Leu Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021428 p.Tyr68His Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021429 p.Met70Leu Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021430 p.Pro72Ser Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021431 p.Val76Met Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021432 p.Arg93His Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021433 p.Arg97Pro Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021434 p.Ser98Trp Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021435 p.Cys102Gly Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021436 p.Cys102Tyr Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021437 p.Met104Val Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021438 p.Phe107Ser Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021439 p.Tyr110Cys Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021440 p.Phe121Leu Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021441 p.Gln122Pro Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021442 p.Arg127Cys Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021443 p.Ala128Val Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021444 p.Ser131Pro Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021445 p.Leu152Pro Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021446 p.Arg162Gly Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021447 p.Arg166Pro Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021448 p.Lys174Arg Disease rs28937878 Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021449 p.Arg177His Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021450 p.Val198Glu Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021451 p.Leu200Arg Disease rs28937879 Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021452 p.Arg202Ser Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021453 p.Asp203Glu Disease rs28937878 Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021454 p.Pro204Gln Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021455 p.Arg205Leu Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021456 p.Arg205Gln Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021457 p.Ala206Thr Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021458 p.Ala206Val Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021459 p.Ser210Phe Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021460 p.Arg211Gln Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021461 p.Arg211Trp Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021462 p.Ala217Thr Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021463 p.Asp221Glu Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021464 p.Asp221Tyr Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021465 p.His249Pro Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021466 p.Tyr268Cys Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021467 p.Glu274Lys Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021468 p.Leu276Pro Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_021469 p.Tyr358Asp Disease - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] CHST6 Q9GZX3 VAR_033735 p.Asn369Asp Polymorphism rs35036798 - CHST8 Q9H2A9 VAR_036538 p.Arg247His Unclassified - A colorectal cancer sample CHST9 Q7L1S5 VAR_055150 p.Ser122Asn Polymorphism rs17694469 - CHSY1 Q86X52 VAR_021173 p.Pro359Ser Polymorphism rs3743193 - CHSY1 Q86X52 VAR_028009 p.Gln652His Polymorphism rs4426333 - CHSY3 Q70JA7 VAR_021174 p.Asp764Gly Polymorphism rs2015018 - CHSY3 Q70JA7 VAR_027540 p.Gly615Glu Polymorphism rs10068403 - CHTF18 Q8WVB6 VAR_043990 p.Ser63Phe Polymorphism rs2277902 - CHTF18 Q8WVB6 VAR_043991 p.Gln82Pro Polymorphism rs2277901 - CHTF18 Q8WVB6 VAR_043992 p.Lys244Arg Polymorphism rs3765263 - CHTF18 Q8WVB6 VAR_043993 p.Ala466Ser Polymorphism rs34595992 - CHTF18 Q8WVB6 VAR_043994 p.Pro928Leu Polymorphism rs2294451 - CHUK O15111 VAR_021359 p.Val268Ile Polymorphism rs2230804 - CHUK O15111 VAR_040565 p.Ser126Cys Polymorphism rs34427437 - CHUK O15111 VAR_040566 p.Val155Ala Polymorphism rs2230803 - CIAPIN1 Q6FI81 VAR_033747 p.Ala34Glu Polymorphism rs11557672 - CIAPIN1 Q6FI81 VAR_033748 p.Gln52Glu Polymorphism rs11557674 - CIB1 Q99828 VAR_019565 p.Ser44Thr Polymorphism rs3210935 - CIB1 Q99828 VAR_048636 p.Ile106Thr Polymorphism rs11551250 - CIB3 Q96Q77 VAR_060268 p.Gly139Glu Polymorphism rs6512087 - CIB4 A0PJX0 VAR_048637 p.His181Arg Polymorphism rs935172 - CIC Q96RK0 VAR_028302 p.Ser982Gly Polymorphism rs17339472 - CIC Q96RK0 VAR_035936 p.Glu104Lys Unclassified - A breast cancer sample CIC Q96RK0 VAR_035937 p.Ala652Thr Unclassified - A breast cancer sample CIC Q96RK0 VAR_065090 p.Arg492Trp Unclassified - - CIDEA O60543 VAR_048738 p.Val115Phe Polymorphism rs45619832 - CIITA P33076 VAR_005128 p.Gly500Ala Polymorphism rs4774 - CIITA P33076 VAR_015551 p.Leu469Pro Disease - Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920] CIITA P33076 VAR_015552 p.Ala658Gly Polymorphism rs2229319 - CIITA P33076 VAR_015553 p.Phe962Ser Disease - Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920] CIITA P33076 VAR_029270 p.Leu45Val Polymorphism rs2229317 - CIITA P33076 VAR_047907 p.Arg174Gly Polymorphism rs8046121 - CIITA P33076 VAR_047908 p.Gln900Arg Polymorphism rs7197779 - CIITA P33076 VAR_057711 p.Val782Ala Polymorphism rs13336804 - CIITA P33076 VAR_060104 p.Ser781Leu Polymorphism rs13330686 - CILP O75339 VAR_022768 p.Trp59Leu Polymorphism rs2585033 - CILP O75339 VAR_022769 p.Ser327Phe Polymorphism - - CILP O75339 VAR_022770 p.Ile395Thr Polymorphism rs2073711 - CILP O75339 VAR_022771 p.Lys575Glu Polymorphism rs2679118 - CILP O75339 VAR_022772 p.Ala895Val Polymorphism - - CILP O75339 VAR_022773 p.Gln979Arg Polymorphism rs2679117 - CILP O75339 VAR_022774 p.Asp1101Asn Polymorphism - - CILP O75339 VAR_022775 p.Gly1166Ser Polymorphism rs938952 - CILP O75339 VAR_022776 p.Val1168Ala Polymorphism - - CINP Q9BW66 VAR_039979 p.Arg164His Polymorphism rs7011 - CINP Q9BW66 VAR_039980 p.Asp177Asn Unclassified - A colorectal cancer sample CIRH1A Q969X6 VAR_017445 p.Arg565Trp Disease - North American Indian childhood cirrhosis (NAIC) [MIM:604901] CIRH1A Q969X6 VAR_053388 p.Arg438His Polymorphism rs8056684 - CITED1 Q99966 VAR_053038 p.His96Gln Polymorphism rs3012627 - CIT O14578 VAR_040417 p.Gly7Glu Polymorphism rs36054900 - CIT O14578 VAR_040418 p.Arg9Gln Polymorphism rs56193743 - CIT O14578 VAR_040419 p.Leu183Phe Polymorphism - - CIZ1 Q9ULV3 VAR_056820 p.Ala219Thr Polymorphism rs45588035 - CIZ1 Q9ULV3 VAR_056821 p.Ser578Phe Polymorphism rs12334 - CIZ1 Q9ULV3 VAR_056822 p.Val638Met Polymorphism rs11549266 - CIZ1 Q9ULV3 VAR_063105 p.Glu370Gly Polymorphism rs45554035 - CIZ1 Q9ULV3 VAR_063106 p.Arg847Gln Polymorphism rs11549260 - CKAP2L Q8IYA6 VAR_039735 p.Leu19Phe Polymorphism rs36093393 - CKAP2L Q8IYA6 VAR_039736 p.Lys26Arg Polymorphism rs35593767 - CKAP2L Q8IYA6 VAR_039737 p.Asn62Ser Polymorphism rs17042344 - CKAP2L Q8IYA6 VAR_039738 p.Thr104Ile Polymorphism rs13007595 - CKAP2L Q8IYA6 VAR_039739 p.Arg263Ser Polymorphism rs17042341 - CKAP2L Q8IYA6 VAR_039740 p.Ile375Val Polymorphism rs6731822 - CKAP2L Q8IYA6 VAR_039741 p.Pro379Ala Polymorphism rs2676126 - CKAP2L Q8IYA6 VAR_039742 p.Ser519Gly Polymorphism rs36046436 - CKAP2L Q8IYA6 VAR_039743 p.Leu614Ser Polymorphism rs3811040 - CKAP2L Q8IYA6 VAR_039744 p.Glu706Asp Polymorphism rs3811039 - CKAP2 Q8WWK9 VAR_027005 p.Ile323Val Polymorphism rs7335867 - CKAP2 Q8WWK9 VAR_054018 p.Met236Lys Polymorphism rs35975899 - CKAP4 Q07065 VAR_027853 p.Ala348Thr Polymorphism rs3088113 - CKAP5 Q14008 VAR_045627 p.Tyr785Cys Polymorphism rs11038988 - CKB P12277 VAR_025838 p.Lys177Arg Polymorphism rs36002620 - CKB P12277 VAR_025839 p.Ser309Leu Polymorphism rs35156510 - CKB P12277 VAR_049674 p.Leu360Phe Polymorphism rs12505 - CKM P06732 VAR_018680 p.Glu83Gly Polymorphism rs11559024 - CKM P06732 VAR_018681 p.Leu127Val Polymorphism rs17875653 - CKM P06732 VAR_018682 p.Gly243Ala Polymorphism rs17875625 - CKM P06732 VAR_049675 p.Thr166Met Polymorphism rs17357122 - CLASP1 Q7Z460 VAR_053818 p.Ile233Thr Polymorphism rs17761055 - CLASRP Q8N2M8 VAR_016809 p.Lys174Glu Polymorphism rs4803794 - CLASRP Q8N2M8 VAR_035490 p.Leu213Ser Unclassified - A breast cancer sample CLCA1 A8K7I4 VAR_043146 p.Asn357Ser Polymorphism rs2734705 - CLCA1 A8K7I4 VAR_043147 p.Met524Thr Polymorphism rs2791494 - CLCA1 A8K7I4 VAR_054654 p.Leu65Phe Polymorphism rs2145412 - CLCA1 A8K7I4 VAR_054655 p.Arg152Lys Polymorphism rs2753386 - CLCA1 A8K7I4 VAR_054656 p.Glu406Val Polymorphism rs1142185 - CLCA1 A8K7I4 VAR_054657 p.Lys426Arg Polymorphism rs4647852 - CLCA1 A8K7I4 VAR_054658 p.Tyr661His Polymorphism rs5744409 - CLCA1 A8K7I4 VAR_054659 p.Lys760Asn Polymorphism rs2791483 - CLCA2 Q9UQC9 VAR_043148 p.Gln306Glu Polymorphism rs17409304 - CLCA2 Q9UQC9 VAR_043149 p.Gly754Glu Unclassified - A breast cancer sample CLCA2 Q9UQC9 VAR_054057 p.Val80Ile Polymorphism rs11580625 - CLCA2 Q9UQC9 VAR_054058 p.Gly534Asp Polymorphism rs1413426 - CLCA3P Q9Y6N3 VAR_035296 p.Tyr84Thr Polymorphism rs2292830 - CLCA3P Q9Y6N3 VAR_035297 p.Ile104Thr Polymorphism rs2292829 - CLCA4 Q14CN2 VAR_045816 p.Pro43Ser Polymorphism rs2231580 - CLCA4 Q14CN2 VAR_045817 p.Asp443Val Polymorphism rs2839932 - CLCA4 Q14CN2 VAR_045818 p.Met449Leu Polymorphism rs1011048 - CLCA4 Q14CN2 VAR_045819 p.Val810Leu Polymorphism rs2231604 - CLCC1 Q96S66 VAR_034673 p.Ser368Arg Polymorphism rs168107 - CLCF1 Q9UBD9 VAR_028354 p.Arg197Leu Disease - Cold-induced sweating syndrome type 2 (CISS2) [MIM:610313] CLCN1 P35523 VAR_001582 p.Arg105Cys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001583 p.Gly118Trp Polymorphism rs10282312 - CLCN1 P35523 VAR_001584 p.Asp136Gly Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001585 p.Tyr150Cys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001586 p.Phe161Val Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001586 p.Phe161Val Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001587 p.Val165Gly Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001588 p.Phe167Leu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001589 p.Gly200Arg Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001589 p.Gly200Arg Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001590 p.Gly230Glu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001590 p.Gly230Glu Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001591 p.Val236Leu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001592 p.Tyr261Cys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001593 p.Gly285Glu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001594 p.Val286Ala Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001595 p.Ile290Met Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001596 p.Glu291Lys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001597 p.Arg300Gln Polymorphism - - CLCN1 P35523 VAR_001598 p.Phe307Ser Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001599 p.Ala313Thr Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001599 p.Ala313Thr Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001600 p.Arg317Gln Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001601 p.Val327Ile Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001602 p.Ile329Thr Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001603 p.Arg338Gln Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001603 p.Arg338Gln Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001604 p.Phe413Cys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001605 p.Ala415Val Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001606 p.Ala437Thr Polymorphism rs41276054 - CLCN1 P35523 VAR_001607 p.Pro480Leu Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001608 p.Gly482Arg Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001609 p.Met485Val Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001610 p.Arg496Ser Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001611 p.Gln552Arg Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001611 p.Gln552Arg Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001612 p.Ile556Asn Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001612 p.Ile556Asn Disease - Myotonia congenita, autosomal dominant (MCD) [MIM:160800] CLCN1 P35523 VAR_001613 p.Val563Ile Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_001614 p.Phe708Leu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700] CLCN1 P35523 VAR_036300 p.Glu548Lys Unclassified - A breast cancer sample CLCN1 P35523 VAR_047779 p.Pro727Leu Polymorphism rs13438232 - CLCN2 P51788 VAR_015989 p.Gly715Glu Polymorphism rs28938470 - CLCN2 P51788 VAR_054550 p.Thr668Ser Polymorphism rs9820367 - CLCN2 P51788 VAR_054551 p.Glu718Asp Polymorphism rs2228292 - CLCN2 P51788 VAR_057886 p.Pro48Arg Unclassified - - CLCN2 P51788 VAR_057887 p.Arg68His Unclassified - - CLCN2 P51788 VAR_057888 p.Gly199Ala Unclassified - - CLCN2 P51788 VAR_057889 p.Arg235Gln Unclassified - - CLCN2 P51788 VAR_057890 p.Arg577Gln Unclassified - - CLCN2 P51788 VAR_057891 p.Arg644Cys Unclassified - - CLCN2 P51788 VAR_057892 p.Arg646Gln Unclassified - - CLCN2 P51788 VAR_057893 p.Arg725Trp Unclassified - - CLCN2 P51788 VAR_057894 p.Arg747His Unclassified - - CLCN2 P51788 VAR_058426 p.Ser719Leu Unclassified - - CLCN5 P51795 VAR_001616 p.Gly57Val Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_001617 p.Leu200Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_001618 p.Ser244Leu Disease - Hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM:300554] CLCN5 P51795 VAR_001619 p.Arg280Pro Disease - Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990] CLCN5 P51795 VAR_001620 p.Gly506Glu Disease - Nephrolithiasis type 1 (NPHL1) [MIM:310468] CLCN5 P51795 VAR_001621 p.Gly512Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_001622 p.Ser520Pro Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_001623 p.Glu527Asp Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_048694 p.Met142Ile Polymorphism rs34800648 - CLCN5 P51795 VAR_065591 p.Gly179Asp Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065592 p.Ser203Leu Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065593 p.Gly212Ala Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065594 p.Cys219Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065595 p.Cys221Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065596 p.Leu225Pro Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065597 p.Gly260Val Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065598 p.Glu267Ala Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065600 p.Ser270Gly Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065601 p.Ser270Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065602 p.Tyr272Cys Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065603 p.Phe273Leu Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065604 p.Leu278Phe Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065605 p.Asn340Lys Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065606 p.Gly462Asp Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065607 p.Leu469Pro Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065608 p.Gly513Glu Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065609 p.Gly513Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065610 p.Arg516Trp Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065611 p.Ile524Lys Disease - Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990] CLCN5 P51795 VAR_065612 p.Ser545Asn Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065613 p.Lys546Glu Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065614 p.Trp547Gly Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN5 P51795 VAR_065615 p.Thr657Ser Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009] CLCN6 P51797 VAR_023051 p.Glu198Gly Polymorphism rs198400 - CLCN7 P51798 VAR_017838 p.Arg762Gln Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_017838 p.Arg762Gln Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_017839 p.Leu766Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_017840 p.Arg767Trp Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_017840 p.Arg767Trp Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_020997 p.Gly215Arg Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_020998 p.Gly240Arg Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_020999 p.Pro249Arg Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021000 p.Arg286Gln Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_021001 p.Met332Val Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021002 p.Val418Met Polymorphism rs12926089 - CLCN7 P51798 VAR_021003 p.Leu490Phe Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_021004 p.Arg526Trp Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021005 p.Leu614Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021006 p.Gly677Val Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_021007 p.Ser744Phe Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_021008 p.Arg767Gln Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_037427 p.Ile261Phe Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064637 p.Leu132Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064638 p.Asn214Ser Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064640 p.Phe318Leu Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_064641 p.Arg403Gln Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064642 p.Gly521Arg Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064643 p.Arg526Gln Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064644 p.Leu549Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064645 p.Leu651Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064646 p.Phe758Leu Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] CLCN7 P51798 VAR_064647 p.Arg762Trp Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCN7 P51798 VAR_064648 p.Arg767Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] CLCNKA P51800 VAR_014465 p.Ala447Thr Polymorphism rs1805152 - CLCNKA P51800 VAR_019787 p.Arg83Gly Polymorphism rs10927887 - CLCNKA P51800 VAR_019788 p.Tyr315Phe Polymorphism rs12126269 - CLCNKA P51800 VAR_030784 p.Met67Ile Polymorphism rs17855678 - CLCNKA P51800 VAR_033768 p.Arg45His Polymorphism rs35932996 - CLCNKA P51800 VAR_033769 p.Ala287Val Polymorphism rs34188929 - CLCNKA P51800 VAR_048695 p.Arg8His Polymorphism rs9442189 - CLCNKA P51800 VAR_059209 p.Arg534Trp Polymorphism rs12140223 - CLCNKA P51800 VAR_061095 p.Pro683Leu Polymorphism rs12746751 - CLCNKA P51800 VAR_063074 p.Trp80Cys Disease - Bartter syndrome type 4B (BS4B) [MIM:613090] CLCNKB P51801 VAR_001624 p.Pro124Leu Disease - Bartter syndrome type 3 (BS3) [MIM:607364] CLCNKB P51801 VAR_001625 p.Ala204Thr Disease - Bartter syndrome type 3 (BS3) [MIM:607364] CLCNKB P51801 VAR_001626 p.Ala349Asp Disease - Bartter syndrome type 3 (BS3) [MIM:607364] CLCNKB P51801 VAR_001627 p.Tyr432His Disease - Bartter syndrome type 3 (BS3) [MIM:607364] CLCNKB P51801 VAR_001628 p.Arg438Cys Disease - Bartter syndrome type 3 (BS3) [MIM:607364] CLCNKB P51801 VAR_014466 p.Ser88Arg Polymorphism rs5256 - CLCNKB P51801 VAR_014467 p.Asn143His Polymorphism rs5259 - CLCNKB P51801 VAR_014468 p.Val334Leu Polymorphism rs5251 - CLCNKB P51801 VAR_014469 p.Met562Thr Polymorphism rs5253 - CLCNKB P51801 VAR_024409 p.Lys578Glu Polymorphism rs2275166 - CLCNKB P51801 VAR_033770 p.Phe4Leu Polymorphism rs34851419 - CLCNKB P51801 VAR_033771 p.Val104Ile Polymorphism rs35530360 - CLCNKB P51801 VAR_033772 p.Ala214Gly Polymorphism rs1889789 - CLCNKB P51801 VAR_033773 p.Ile419Val Polymorphism rs6650119 - CLCNKB P51801 VAR_046797 p.Arg27Leu Polymorphism rs2015352 - CLCNKB P51801 VAR_046798 p.Val126Leu Polymorphism rs5258 - CLCNKB P51801 VAR_046799 p.Arg395Trp Polymorphism rs34255952 - CLCNKB P51801 VAR_046800 p.Thr481Ser Polymorphism rs12140311 - CLCNKB P51801 VAR_046801 p.Ser660Leu Polymorphism rs5255 - CLC Q05315 VAR_014765 p.Ala28Val Polymorphism rs17608 - CLDN14 O95500 VAR_010738 p.Val85Asp Disease - Deafness autosomal recessive type 29 (DFNB29) [MIM:614035] CLDN14 O95500 VAR_017227 p.Thr4Met Polymorphism - - CLDN16 Q9Y5I7 VAR_008172 p.Gly239Arg Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008173 p.Met71Arg Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008174 p.Leu167Pro Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008175 p.Gly191Arg Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008176 p.Gly198Asp Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008177 p.Phe232Cys Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008178 p.Gly233Asp Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_008179 p.Ser235Phe Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017228 p.His141Asp Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017229 p.Leu145Pro Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017230 p.Arg149Leu Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017231 p.Leu151Phe Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017232 p.Leu151Pro Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017233 p.Leu151Trp Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017234 p.Gly198Ala Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017235 p.Ala209Thr Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017236 p.Arg216Thr Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN16 Q9Y5I7 VAR_017237 p.Ser235Pro Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250] CLDN17 P56750 VAR_033774 p.Ala82Thr Polymorphism rs35531957 - CLDN18 P56856 VAR_033775 p.Met149Leu Polymorphism rs17204075 - CLDN19 Q8N6F1 VAR_031238 p.Leu13Phe Polymorphism rs12065961 - CLDN19 Q8N6F1 VAR_031239 p.Gly20Asp Disease - Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190] CLDN19 Q8N6F1 VAR_031240 p.Gln57Glu Disease - Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190] CLDN19 Q8N6F1 VAR_031241 p.Leu90Pro Disease - Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190] CLDN23 Q96B33 VAR_059219 p.Val210Met Polymorphism rs12548737 - CLDN24 A6NM45 VAR_055660 p.Leu18Phe Polymorphism rs7688467 - CLDN25 C9JDP6 VAR_063401 p.His219Tyr Polymorphism rs35111413 - CLDN6 P56747 VAR_017151 p.Ile143Val Polymorphism rs2257295 - CLDN7 O95471 VAR_014538 p.Val197Ala Polymorphism rs4562 - CLDN7 O95471 VAR_030736 p.Ala133Thr Polymorphism rs17849410 - CLDN8 P56748 VAR_020387 p.Ser151Pro Polymorphism rs686364 - CLDN8 P56748 VAR_024417 p.Thr129Ala Polymorphism rs685967 - CLDN8 P56748 VAR_048739 p.Thr25Ala Polymorphism rs1557294 - CLEC10A Q8IUN9 VAR_021262 p.Cys35Arg Polymorphism rs90951 - CLEC10A Q8IUN9 VAR_050113 p.Arg73Lys Polymorphism rs16956478 - CLEC10A Q8IUN9 VAR_050114 p.Thr100Met Polymorphism rs35318160 - CLEC10A Q8IUN9 VAR_050115 p.Ala203Gly Polymorphism rs35101468 - CLEC11A Q9Y240 VAR_050116 p.Pro104Arg Polymorphism rs2303688 - CLEC12A Q5QGZ9 VAR_037669 p.Lys244Gln Polymorphism rs479499 - CLEC12B Q2HXU8 VAR_037670 p.Thr6Asn Polymorphism rs1359082 - CLEC12B Q2HXU8 VAR_037671 p.Val116Leu Polymorphism rs637790 - CLEC16A Q2KHT3 VAR_030288 p.Gly906Glu Polymorphism rs2241100 - CLEC18A A5D8T8 VAR_059449 p.Val118Ala Polymorphism rs2549097 - CLEC1A Q8NC01 VAR_050106 p.Gly26Ala Polymorphism rs2306894 - CLEC1B Q9P126 VAR_031047 p.Ile20Val Polymorphism rs612593 - CLEC1B Q9P126 VAR_031048 p.Ser24Pro Polymorphism rs2273986 - CLEC1B Q9P126 VAR_031049 p.Ser28Phe Polymorphism rs2273987 - CLEC1B Q9P126 VAR_031050 p.Gly64Asp Polymorphism rs583903 - CLEC2A Q6UVW9 VAR_029629 p.Gly136Asp Polymorphism rs526680 - CLEC2D Q9UHP7 VAR_038172 p.Asn19Lys Polymorphism rs16914640 - CLEC2D Q9UHP7 VAR_038173 p.Leu23Val Polymorphism rs3764022 - CLEC3A O75596 VAR_021259 p.Gln197Lys Polymorphism rs2072663 - CLEC3B P05452 VAR_004189 p.Ala55Ser Polymorphism - - CLEC3B P05452 VAR_004190 p.Val58Met Polymorphism - - CLEC3B P05452 VAR_012318 p.Gly106Ser Polymorphism rs13963 - CLEC4A Q9UMR7 VAR_021260 p.His36Leu Polymorphism rs2024301 - CLEC4D Q8WXI8 VAR_021261 p.Ser32Gly Polymorphism rs4304840 - CLEC4F Q8N1N0 VAR_054429 p.Arg101Gln Polymorphism rs2075221 - CLEC4F Q8N1N0 VAR_054430 p.Arg351His Polymorphism rs722896 - CLEC4F Q8N1N0 VAR_054431 p.Lys564Arg Polymorphism rs2287101 - CLEC4M Q9H2X3 VAR_021957 p.Asp291Asn Polymorphism rs2277998 - CLEC4M Q9H2X3 VAR_050107 p.Arg164Gln Polymorphism rs11465376 - CLEC4M Q9H2X3 VAR_050108 p.Tyr205Cys Polymorphism rs479448 - CLEC4M Q9H2X3 VAR_050109 p.Tyr251Cys Polymorphism rs479448 - CLEC5A Q9NY25 VAR_050110 p.Arg141His Polymorphism rs35942193 - CLEC7A Q9BXN2 VAR_050111 p.Ile223Ser Polymorphism rs16910527 - CLEC9A Q6UXN8 VAR_050112 p.Ala107Gly Polymorphism rs11831360 - CLGN O14967 VAR_024400 p.Ala160Ser Polymorphism rs2567241 - CLGN O14967 VAR_033776 p.Val290Ile Polymorphism rs2175563 - CLGN O14967 VAR_048590 p.Arg352Trp Polymorphism rs12513290 - CLHC1 Q8NHS4 VAR_039944 p.Ala178Val Polymorphism rs9677948 - CLHC1 Q8NHS4 VAR_039945 p.Val426Ile Polymorphism rs6716066 - CLHC1 Q8NHS4 VAR_039946 p.Ala503Val Polymorphism rs14026 - CLHC1 Q8NHS4 VAR_039947 p.Asp552Tyr Polymorphism rs3186099 - CLIC3 O95833 VAR_020424 p.Pro38His Polymorphism rs2292923 - CLIC5 Q9NZA1 VAR_047541 p.Pro257His Polymorphism rs35822882 - CLIC5 Q9NZA1 VAR_059208 p.Thr114Ala Polymorphism rs723580 - CLIC6 Q96NY7 VAR_014139 p.Asp632Gly Polymorphism rs3171439 - CLIP1 P30622 VAR_020398 p.Asp1080Glu Polymorphism rs1129167 - CLIP1 P30622 VAR_036446 p.Met1213Ile Unclassified - A breast cancer sample CLIP1 P30622 VAR_048672 p.Arg780Trp Polymorphism rs3741447 - CLIP1 P30622 VAR_048673 p.Ser941Pro Polymorphism rs17883517 - CLIP1 P30622 VAR_048674 p.Ala1224Ser Polymorphism rs17881033 - CLIP1 P30622 VAR_059206 p.Ser162Pro Polymorphism rs7963597 - CLIP2 Q9UDT6 VAR_023618 p.Arg977Pro Polymorphism rs2522943 - CLIP2 Q9UDT6 VAR_055636 p.Asp961Glu Polymorphism rs17145468 - CLIP3 Q96DZ5 VAR_027962 p.Asp175Val Polymorphism rs17851002 - CLIP4 Q8N3C7 VAR_048675 p.Arg486Leu Polymorphism rs3100246 - CLIP4 Q8N3C7 VAR_048676 p.Thr613Pro Polymorphism rs34327508 - CLK1 P49759 VAR_040409 p.Ser61Phe Polymorphism rs55989135 - CLK1 P49759 VAR_040410 p.Arg118Gly Polymorphism rs56135616 - CLK1 P49759 VAR_040411 p.Pro307Ser Polymorphism rs35412475 - CLK1 P49759 VAR_040412 p.Met440Thr Polymorphism rs35393352 - CLK1 P49759 VAR_046551 p.Asn99Asp Polymorphism rs6735666 - CLK1 P49759 VAR_051620 p.Glu459Gly Polymorphism rs12709 - CLK3 P49761 VAR_040413 p.Arg486Cys Polymorphism - - CLK3 P49761 VAR_045579 p.Gln607Arg Polymorphism - - CLK3 P49761 VAR_045580 p.Arg628Trp Polymorphism - - CLK4 Q9HAZ1 VAR_040414 p.Leu352Phe Polymorphism rs35272416 - CLK4 Q9HAZ1 VAR_040415 p.Ile363Val Polymorphism rs55746655 - CLLU1 Q5K131 VAR_034663 p.Ser9Phe Polymorphism rs12580153 - CLMN Q96JQ2 VAR_050866 p.Pro963Leu Polymorphism rs10149705 - CLMP Q9H6B4 VAR_049824 p.Arg69His Polymorphism rs2276348 - CLN3 Q13286 VAR_005131 p.Leu101Pro Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005132 p.Leu170Pro Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005133 p.Glu295Lys Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005134 p.Val330Phe Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005135 p.Arg334Cys Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] CLN3 Q13286 VAR_005136 p.Arg334His Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] CLN5 O75503 VAR_005137 p.Asp230Asn Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_005138 p.Lys319Arg Polymorphism rs1800209 - CLN5 O75503 VAR_042700 p.Arg63His Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_042701 p.Tyr209Asp Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_042702 p.Arg63Pro Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] CLN5 O75503 VAR_059031 p.Glu219Ala Polymorphism rs11842935 - CLN5 O75503 VAR_059032 p.Trp330Cys Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] CLN6 Q9NWW5 VAR_015683 p.Gly123Asp Disease rs28939384 Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_015686 p.Trp300Arg Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_021549 p.Arg62His Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_021550 p.Glu72Gln Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_021551 p.Tyr221Ser Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_021552 p.Met241Thr Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_021554 p.Pro299Leu Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_058436 p.Pro159Leu Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] CLN6 Q9NWW5 VAR_058437 p.Tyr221Cys Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] CLN8 Q9UBY8 VAR_013174 p.Arg24Gly Disease - Neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE) [MIM:610003] CLN8 Q9UBY8 VAR_013175 p.Ala155Val Polymorphism - - CLN8 Q9UBY8 VAR_026554 p.Leu16Met Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_026555 p.Thr170Met Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_026556 p.Arg204Cys Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_026557 p.Trp263Cys Disease rs28940569 Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_031704 p.His92Tyr Polymorphism rs34030778 - CLN8 Q9UBY8 VAR_058438 p.Tyr158Cys Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_058439 p.Gly237Arg Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_060573 p.Ala30Pro Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] CLN8 Q9UBY8 VAR_060575 p.Gln194Arg Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] CLNK Q7Z7G1 VAR_037984 p.Ser65Gly Polymorphism rs16869924 - CLNS1A P54105 VAR_015736 p.Gln20His Polymorphism - - CLNS1A P54105 VAR_015737 p.Met218Thr Polymorphism - - CLOCK O15516 VAR_029076 p.Leu395Ile Polymorphism rs6855837 - CLOCK O15516 VAR_029077 p.His542Arg Polymorphism rs3762836 - CLOCK O15516 VAR_040061 p.Ser208Cys Polymorphism rs34897046 - CLOCK O15516 VAR_040062 p.Glu380Lys Polymorphism rs1056478 - CLPB Q9H078 VAR_048740 p.Arg295Thr Polymorphism rs7938203 - CLPSL1 A2RUU4 VAR_043560 p.Phe15Ser Polymorphism rs34109614 - CLPS P04118 VAR_047105 p.Arg109Cys Polymorphism rs41270082 - CLPS P04118 VAR_053040 p.Leu8Pro Polymorphism rs2766597 - CLPTM1L Q96KA5 VAR_042754 p.Lys313Asn Unclassified - A breast cancer sample CLPTM1L Q96KA5 VAR_042755 p.Thr537Met Polymorphism rs33955038 - CLPX O76031 VAR_048826 p.Ile488Thr Polymorphism rs35754835 - CLRN1 P58418 VAR_012241 p.Met120Lys Disease - Usher syndrome type 3A (USH3A) [MIM:276902] CLRN1 P58418 VAR_030345 p.Asn48Lys Disease - Usher syndrome type 3A (USH3A) [MIM:276902] CLRN1 P58418 VAR_030346 p.Leu150Pro Disease - Usher syndrome type 3A (USH3A) [MIM:276902] CLRN1 P58418 VAR_053825 p.Lys7Ile Polymorphism rs3796241 - CLRN1 P58418 VAR_054555 p.Cys40Gly Disease - Usher syndrome type 3A (USH3A) [MIM:276902] CLRN1 P58418 VAR_054556 p.Ser105Pro Disease - Usher syndrome type 3A (USH3A) [MIM:276902] CLRN2 A0PK11 VAR_053826 p.Leu113Val Polymorphism rs13147559 - CLRN2 A0PK11 VAR_053827 p.Ala153Thr Polymorphism rs2597791 - CLRN3 Q8NCR9 VAR_053828 p.Phe75Ile Polymorphism rs35070529 - CLSPN Q9HAW4 VAR_023439 p.Asn525Ser Polymorphism rs7537203 - CLSPN Q9HAW4 VAR_035674 p.His439Arg Unclassified - A breast cancer sample CLSPN Q9HAW4 VAR_050867 p.Pro892Thr Polymorphism rs34390044 - CLSPN Q9HAW4 VAR_050868 p.Ser1280Leu Polymorphism rs35490896 - CLSTN1 O94985 VAR_039552 p.Val474Ala Polymorphism rs17853245 - CLSTN1 O94985 VAR_039553 p.Ser524Cys Polymorphism rs17853244 - CLSTN1 O94985 VAR_039554 p.Pro583Arg Polymorphism rs17853243 - CLSTN1 O94985 VAR_039555 p.Pro857His Polymorphism rs17855572 - CLSTN1 O94985 VAR_039556 p.Phe870Ser Polymorphism rs17855573 - CLSTN1 O94985 VAR_048582 p.Ala332Thr Polymorphism rs7550295 - CLSTN2 Q9H4D0 VAR_036112 p.Ser193Ile Unclassified - A colorectal cancer sample CLSTN2 Q9H4D0 VAR_036113 p.Arg765Gln Unclassified - A colorectal cancer sample CLSTN2 Q9H4D0 VAR_039557 p.Val366Ile Polymorphism rs7632885 - CLSTN2 Q9H4D0 VAR_055615 p.Ile331Thr Polymorphism rs17348572 - CLSTN3 Q9BQT9 VAR_036114 p.His874Tyr Unclassified - A colorectal cancer sample CLSTN3 Q9BQT9 VAR_048583 p.Ser209Gly Polymorphism rs7302230 - CLTCL1 P53675 VAR_055653 p.Pro61Leu Polymorphism rs3747059 - CLTCL1 P53675 VAR_055654 p.Lys205Arg Polymorphism rs5746697 - CLTCL1 P53675 VAR_055655 p.Tyr279Cys Polymorphism rs807459 - CLTCL1 P53675 VAR_055656 p.Glu691Lys Polymorphism rs1060374 - CLTCL1 P53675 VAR_055657 p.Lys941Arg Polymorphism rs35398725 - CLTCL1 P53675 VAR_055658 p.Arg945His Polymorphism rs36077768 - CLTCL1 P53675 VAR_055659 p.Arg1046Cys Polymorphism rs712952 - CLTCL1 P53675 VAR_059214 p.Asn1195Ser Polymorphism rs807547 - CLTCL1 P53675 VAR_059215 p.Met1316Val Polymorphism rs1061325 - CLTCL1 P53675 VAR_059216 p.Ile1394Thr Polymorphism rs1633399 - CLTCL1 P53675 VAR_059217 p.Val1592Met Polymorphism rs2073738 - CLTCL1 P53675 VAR_059218 p.Arg1620His Polymorphism rs5748024 - CLUAP1 Q96AJ1 VAR_050869 p.Ala68Ser Polymorphism rs34115694 - CLUAP1 Q96AJ1 VAR_050870 p.Arg401Trp Polymorphism rs9790 - CLUH O75153 VAR_034008 p.Ala633Val Polymorphism rs11078312 - CLU P10909 VAR_019366 p.Asn317His Polymorphism rs9331936 - CLU P10909 VAR_019367 p.Asp328Asn Polymorphism rs9331938 - CLU P10909 VAR_019368 p.Ser396Leu Polymorphism rs13494 - CLYBL Q8N0X4 VAR_032099 p.Asp28Tyr Polymorphism rs17577293 - CLYBL Q8N0X4 VAR_032100 p.Val128Ile Polymorphism rs35680839 - CLYBL Q8N0X4 VAR_032101 p.Ile241Val Polymorphism rs3783185 - CMA1 P23946 VAR_011770 p.Gly46Arg Polymorphism rs5246 - CMA1 P23946 VAR_011771 p.His66Arg Polymorphism rs5247 - CMA1 P23946 VAR_029190 p.Arg98His Polymorphism rs13306252 - CMBL Q96DG6 VAR_036751 p.Tyr155Cys Polymorphism rs35489000 - CMC2 Q9NRP2 VAR_033816 p.Thr11Ser Polymorphism rs2303217 - CMPK2 Q5EBM0 VAR_055997 p.Lys433Arg Polymorphism rs6712141 - CMSS1 Q9BQ75 VAR_033658 p.Val166Ile Polymorphism rs11537816 - CMSS1 Q9BQ75 VAR_047645 p.Glu138Gly Polymorphism rs11537817 - CMTM1 Q8IZ96 VAR_053039 p.Ser10Thr Polymorphism rs16956746 - CMTM2 Q8TAZ6 VAR_022154 p.Ile122Thr Polymorphism rs2290182 - CMTM6 Q9NX76 VAR_061998 p.Thr91Ala Polymorphism rs35574803 - CMYA5 Q8N3K9 VAR_042471 p.Tyr64Cys Polymorphism rs16877109 - CMYA5 Q8N3K9 VAR_042472 p.Gln175His Polymorphism rs6895605 - CMYA5 Q8N3K9 VAR_042473 p.Asp190Gly Polymorphism rs10942901 - CMYA5 Q8N3K9 VAR_042474 p.Gly349Asp Polymorphism rs1366271 - CMYA5 Q8N3K9 VAR_042475 p.Gly591Asp Polymorphism rs16877124 - CMYA5 Q8N3K9 VAR_042476 p.Val1006Ala Polymorphism rs6893869 - CMYA5 Q8N3K9 VAR_042477 p.Ala1295Val Polymorphism rs4704585 - CMYA5 Q8N3K9 VAR_042478 p.Ile1309Val Polymorphism rs16877133 - CMYA5 Q8N3K9 VAR_042479 p.Ala1333Val Polymorphism rs16877135 - CMYA5 Q8N3K9 VAR_042480 p.Ile1380Val Polymorphism rs13158477 - CMYA5 Q8N3K9 VAR_042481 p.Ala1567Glu Polymorphism rs1428223 - CMYA5 Q8N3K9 VAR_042482 p.Ser1599Ala Polymorphism rs1428224 - CMYA5 Q8N3K9 VAR_042483 p.Leu1669Ser Polymorphism rs1019762 - CMYA5 Q8N3K9 VAR_042484 p.Ile1713Asn Polymorphism rs16877141 - CMYA5 Q8N3K9 VAR_042485 p.Ile1721Val Polymorphism rs1428225 - CMYA5 Q8N3K9 VAR_042486 p.Ala1875Val Polymorphism rs16877147 - CMYA5 Q8N3K9 VAR_042487 p.Asp1917Gly Polymorphism rs16877150 - CMYA5 Q8N3K9 VAR_042488 p.Ser1920Gly Polymorphism rs16877151 - CMYA5 Q8N3K9 VAR_042489 p.Val2262Leu Polymorphism rs6859595 - CMYA5 Q8N3K9 VAR_042490 p.Lys2383Glu Polymorphism rs7721884 - CMYA5 Q8N3K9 VAR_042491 p.Thr2693Ile Polymorphism rs28362541 - CMYA5 Q8N3K9 VAR_042492 p.Lys2906Asn Polymorphism rs2278239 - CMYA5 Q8N3K9 VAR_042493 p.Gly2935Arg Polymorphism rs2278240 - CMYA5 Q8N3K9 VAR_042494 p.His3358Gln Polymorphism rs3828611 - CMYA5 Q8N3K9 VAR_042495 p.Lys3583Glu Polymorphism rs12514461 - CMYA5 Q8N3K9 VAR_042496 p.Arg3927Gln Polymorphism rs1129770 - CMYA5 Q8N3K9 VAR_042497 p.Pro4063Leu Polymorphism rs10043986 - CMYA5 Q8N3K9 VAR_061611 p.Ser651Arg Polymorphism rs57544556 - CNBD1 Q8NA66 VAR_032859 p.Asp64Asn Polymorphism rs10504829 - CNBD1 Q8NA66 VAR_032860 p.Gln69Lys Polymorphism rs16894901 - CNBD1 Q8NA66 VAR_061108 p.Met257Val Polymorphism rs60556175 - CNBD2 Q96M20 VAR_056853 p.Arg37His Polymorphism rs17347958 - CNBD2 Q96M20 VAR_056854 p.Thr208Ala Polymorphism rs6142471 - CNBD2 Q96M20 VAR_056855 p.Pro375Ser Polymorphism rs6060750 - CNDP1 Q96KN2 VAR_027147 p.Gly6Arg Polymorphism rs11151964 - CNDP1 Q96KN2 VAR_027149 p.Ile113Val Polymorphism rs4263028 - CNDP2 Q96KP4 VAR_057154 p.Tyr126His Polymorphism rs2278161 - CNGA1 P29973 VAR_009295 p.Arg32Gln Polymorphism - - CNGA1 P29973 VAR_009296 p.Asp118Asn Polymorphism - - CNGA1 P29973 VAR_009297 p.Ser320Phe Disease - Retinitis pigmentosa type 49 (RP49) [MIM:613756] CNGA1 P29973 VAR_047385 p.Asn122Asp Polymorphism rs28642966 - CNGA2 Q16280 VAR_036603 p.Arg97His Unclassified - A breast cancer sample CNGA2 Q16280 VAR_036604 p.Arg399Gln Unclassified - A breast cancer sample CNGA2 Q16280 VAR_048748 p.Asp118His Polymorphism rs6627455 - CNGA2 Q16280 VAR_048749 p.Glu663Lys Polymorphism rs714147 - CNGA2 Q16280 VAR_061107 p.Trp139Leu Polymorphism rs35350051 - CNGA3 Q16281 VAR_010902 p.Thr153Met Polymorphism rs34314205 - CNGA3 Q16281 VAR_010903 p.Pro163Leu Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010904 p.Arg283Gln Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010905 p.Arg283Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010906 p.Thr291Arg Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010907 p.Val529Met Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010908 p.Phe547Leu Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010909 p.Gly557Arg Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_010910 p.Arg410Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_021963 p.Glu198Lys Polymorphism rs2271041 - CNGA3 Q16281 VAR_047565 p.Pro48Leu Polymorphism - - CNGA3 Q16281 VAR_047566 p.Asp162Val Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047567 p.Tyr181Cys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047568 p.Asn182Tyr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047569 p.Leu186Phe Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047570 p.Cys191Tyr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047571 p.Glu194Lys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047572 p.Arg223Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047573 p.Thr224Arg Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047574 p.Glu228Lys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047575 p.Phe249Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047576 p.Asp260Asn Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047577 p.Tyr263Asp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047578 p.Gly267Asp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047579 p.Arg277Cys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047580 p.Arg277His Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047582 p.Ser341Pro Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047583 p.Thr369Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047584 p.Pro372Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047585 p.Phe380Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047586 p.Ser401Pro Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047587 p.Met406Thr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047588 p.Arg427Cys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047589 p.Arg436Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047590 p.Arg439Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047591 p.Ala469Thr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047592 p.Asn471Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047593 p.Asp485Val Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047594 p.Cys510Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047595 p.Gly513Glu Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047596 p.Gly516Glu Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047597 p.Ile522Thr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047598 p.Gly525Asp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047599 p.Gly548Arg Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047600 p.Arg563His Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047601 p.Thr565Met Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047602 p.Arg569His Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047603 p.Tyr573Cys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047604 p.Glu590Lys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA3 Q16281 VAR_047605 p.Glu593Lys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900] CNGA4 Q8IV77 VAR_038480 p.Glu553Val Polymorphism rs325706 - CNGB1 Q14028 VAR_058691 p.Arg100His Polymorphism rs13336595 - CNGB1 Q14028 VAR_059225 p.Leu479Ile Polymorphism rs2303783 - CNGB1 Q14028 VAR_059226 p.Val535Ala Polymorphism rs12927214 - CNGB1 Q14028 VAR_059227 p.Asn731Lys Polymorphism rs376270 - CNGB1 Q14028 VAR_059228 p.Leu745Ile Polymorphism rs10459809 - CNGB1 Q14028 VAR_059229 p.Lys911Arg Polymorphism rs2303785 - CNGB1 Q14028 VAR_059230 p.Ala961Ser Polymorphism rs16942445 - CNGB1 Q14028 VAR_060491 p.Gly993Val Disease - Retinitis pigmentosa type 45 (RP45) [MIM:613767] CNGB3 Q9NQW8 VAR_018109 p.Cys234Trp Polymorphism rs6471482 - CNGB3 Q9NQW8 VAR_018110 p.Thr298Pro Polymorphism rs4961206 - CNGB3 Q9NQW8 VAR_018111 p.Ser435Phe Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_018112 p.Glu755Gly Polymorphism rs3735972 - CNGB3 Q9NQW8 VAR_024418 p.Ile307Val Polymorphism rs13265557 - CNGB3 Q9NQW8 VAR_025524 p.Arg203Gln Disease rs16916632 Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_025525 p.Pro750Ser Polymorphism rs3735971 - CNGB3 Q9NQW8 VAR_047606 p.Arg25His Polymorphism - - CNGB3 Q9NQW8 VAR_047607 p.Asn27Ser Polymorphism rs35807406 - CNGB3 Q9NQW8 VAR_047608 p.Gly107Arg Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047609 p.Lys148Glu Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047610 p.Ser156Phe Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047611 p.Glu199Lys Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047612 p.Pro309Leu Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047613 p.Arg403Gln Unclassified - - CNGB3 Q9NQW8 VAR_047614 p.Met466Thr Disease rs35010099 Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047615 p.Tyr469Asp Disease rs35365413 Stargardt disease type 1 (STGD1) [MIM:248200] CNGB3 Q9NQW8 VAR_047616 p.Asp494Asn Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047617 p.Asp513Tyr Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047618 p.Phe525Asn Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047619 p.Gly558Cys Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047620 p.Leu595Phe Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNGB3 Q9NQW8 VAR_047621 p.Thr672Pro Disease - Achromatopsia type 3 (ACHM3) [MIM:262300] CNIH4 Q9P003 VAR_048830 p.Ala3Gly Polymorphism rs12123896 - CNKSR1 Q969H4 VAR_057790 p.Arg662Trp Polymorphism rs17163640 - CNKSR2 Q8WXI2 VAR_035681 p.Arg46His Unclassified - A colorectal cancer sample CNNM1 Q9NRU3 VAR_057737 p.Arg819Gln Polymorphism rs2298316 - CNNM2 Q9H8M5 VAR_065259 p.Arg38Gln Polymorphism rs76057237 - CNNM2 Q9H8M5 VAR_065260 p.Thr568Ile Disease - Hypomagnesemia type 6 (HOMG6) [MIM:613882] CNNM4 Q6P4Q7 VAR_033365 p.Gly126Arg Polymorphism rs17855817 - CNNM4 Q6P4Q7 VAR_035946 p.Val134Leu Unclassified - A breast cancer sample CNNM4 Q6P4Q7 VAR_058319 p.Ser196Pro Disease - Jalili syndrome (JALIS) [MIM:217080] CNNM4 Q6P4Q7 VAR_058320 p.Ser200Tyr Disease - Jalili syndrome (JALIS) [MIM:217080] CNNM4 Q6P4Q7 VAR_058321 p.Arg236Gln Disease - Jalili syndrome (JALIS) [MIM:217080] CNNM4 Q6P4Q7 VAR_058322 p.Leu324Pro Disease - Jalili syndrome (JALIS) [MIM:217080] CNOT10 Q9H9A5 VAR_037957 p.Pro736Ser Polymorphism rs17849684 - CNOT10 Q9H9A5 VAR_053982 p.Thr348Ser Polymorphism rs11558687 - CNOT1 A5YKK6 VAR_038254 p.Asp603Ala Polymorphism rs17854028 - CNOT2 Q9NZN8 VAR_048750 p.Ala460Thr Polymorphism rs11178192 - CNOT4 O95628 VAR_027833 p.Ala7Gly Polymorphism rs17480616 - CNOT8 Q9UFF9 VAR_048751 p.Leu32Pro Polymorphism rs1139980 - CNP P09543 VAR_033746 p.Gln207Arg Polymorphism rs34353668 - CNPPD1 Q9BV87 VAR_022825 p.Ile262Thr Polymorphism rs1043160 - CNPPD1 Q9BV87 VAR_024298 p.Leu292Pro Polymorphism rs1127102 - CNPPD1 Q9BV87 VAR_024299 p.Pro366Leu Polymorphism rs17655123 - CNPPD1 Q9BV87 VAR_024300 p.Leu383Pro Polymorphism rs4674361 - CNPPD1 Q9BV87 VAR_056769 p.Arg344Thr Polymorphism rs1043161 - CNPY3 Q9BT09 VAR_037731 p.Met145Ile Polymorphism rs1063252 - CNPY3 Q9BT09 VAR_037732 p.Ser231Ile Polymorphism rs9471969 - CNPY4 Q8N129 VAR_062216 p.Gly168Arg Polymorphism rs60551236 - CNR2 P34972 VAR_029209 p.His316Tyr Polymorphism rs2229579 - CNR2 P34972 VAR_054310 p.Gln63Arg Polymorphism rs2501432 - CNST Q6PJW8 VAR_032530 p.Ser28Asn Polymorphism rs35286882 - CNST Q6PJW8 VAR_032531 p.Leu87Ser Polymorphism rs6702823 - CNST Q6PJW8 VAR_032532 p.Arg399Cys Polymorphism rs12075111 - CNST Q6PJW8 VAR_056762 p.Gln183Arg Polymorphism rs12091148 - CNTD1 Q8N815 VAR_037708 p.Thr145Pro Polymorphism rs12947820 - CNTF P26441 VAR_013924 p.His182Arg Polymorphism rs6266 - CNTF P26441 VAR_033777 p.Asn49Ser Polymorphism rs17152779 - CNTLN Q9NXG0 VAR_025608 p.Arg562Cys Polymorphism rs3808782 - CNTLN Q9NXG0 VAR_025609 p.Thr695Ile Polymorphism rs7035276 - CNTLN Q9NXG0 VAR_025610 p.Thr1376Ala Polymorphism rs2499057 - CNTLN Q9NXG0 VAR_056840 p.Thr284Ala Polymorphism rs3808795 - CNTLN Q9NXG0 VAR_056841 p.Glu291Asp Polymorphism rs3808794 - CNTN1 Q12860 VAR_011722 p.Val798Leu Polymorphism rs1056020 - CNTN1 Q12860 VAR_035506 p.Pro794His Unclassified - A colorectal cancer sample CNTN1 Q12860 VAR_049866 p.Glu824Gly Polymorphism rs11553341 - CNTN2 Q02246 VAR_021918 p.Ala145Thr Polymorphism rs2275697 - CNTN2 Q02246 VAR_021919 p.Arg657Trp Polymorphism rs2305276 - CNTN2 Q02246 VAR_029129 p.Pro366Leu Polymorphism rs2229866 - CNTN2 Q02246 VAR_049867 p.Val1024Ile Polymorphism rs17416074 - CNTN3 Q9P232 VAR_019906 p.Ser630Asn Polymorphism rs626578 - CNTN3 Q9P232 VAR_056042 p.Asn708Ser Polymorphism rs626578 - CNTN4 Q8IWV2 VAR_035507 p.Thr176Pro Unclassified - A colorectal cancer sample CNTN4 Q8IWV2 VAR_035508 p.Lys420Asn Unclassified - A colorectal cancer sample CNTN5 O94779 VAR_019907 p.Ser23Ala Polymorphism rs10790978 - CNTN5 O94779 VAR_019908 p.Leu70Arg Polymorphism rs7125822 - CNTN5 O94779 VAR_019909 p.Asn81Ser Polymorphism rs10893933 - CNTN5 O94779 VAR_019910 p.Ile530Val Polymorphism rs11223168 - CNTN5 O94779 VAR_019911 p.Tyr1065Phe Polymorphism rs1944169 - CNTN5 O94779 VAR_019912 p.Ser1079Thr Polymorphism rs1216183 - CNTN5 O94779 VAR_033610 p.Met1094Val Polymorphism rs35208161 - CNTN6 Q9UQ52 VAR_019913 p.Ala440Ser Polymorphism rs265771 - CNTN6 Q9UQ52 VAR_033611 p.Phe150Ser Polymorphism rs6808056 - CNTN6 Q9UQ52 VAR_035509 p.Thr108Ala Unclassified - A breast cancer sample CNTN6 Q9UQ52 VAR_035510 p.Ser585Cys Unclassified - A breast cancer sample CNTN6 Q9UQ52 VAR_065744 p.Arg303Gln Polymorphism rs41293401 - CNTN6 Q9UQ52 VAR_065745 p.Phe314Val Polymorphism - - CNTN6 Q9UQ52 VAR_065746 p.Glu954Val Unclassified - - CNTNAP1 P78357 VAR_050267 p.Val522Leu Polymorphism rs35437096 - CNTNAP2 Q9UHC6 VAR_046227 p.Arg114Gln Polymorphism - - CNTNAP2 Q9UHC6 VAR_046228 p.Thr218Met Polymorphism - - CNTNAP2 Q9UHC6 VAR_046229 p.Leu226Met Polymorphism - - CNTNAP2 Q9UHC6 VAR_046230 p.Arg283Cys Polymorphism - - CNTNAP2 Q9UHC6 VAR_046231 p.Ser382Asn Polymorphism - - CNTNAP2 Q9UHC6 VAR_046232 p.Asn407Ser Polymorphism - - CNTNAP2 Q9UHC6 VAR_046233 p.Asn418Asp Polymorphism - - CNTNAP2 Q9UHC6 VAR_046234 p.Glu680Lys Polymorphism - - CNTNAP2 Q9UHC6 VAR_046235 p.Pro699Gln Polymorphism - - CNTNAP2 Q9UHC6 VAR_046236 p.Tyr716Cys Polymorphism - - CNTNAP2 Q9UHC6 VAR_046237 p.Gly731Ser Polymorphism - - CNTNAP2 Q9UHC6 VAR_046238 p.Gly779Asp Polymorphism - - CNTNAP2 Q9UHC6 VAR_046239 p.Ile869Thr Unclassified - - CNTNAP2 Q9UHC6 VAR_046240 p.Arg906His Polymorphism - - CNTNAP2 Q9UHC6 VAR_046241 p.Asp1038Asn Polymorphism - - CNTNAP2 Q9UHC6 VAR_046242 p.Val1102Ala Polymorphism - - CNTNAP2 Q9UHC6 VAR_046243 p.Ser1114Gly Polymorphism - - CNTNAP2 Q9UHC6 VAR_046244 p.Arg1119His Polymorphism - - CNTNAP2 Q9UHC6 VAR_046245 p.Asp1129His Polymorphism - - CNTNAP2 Q9UHC6 VAR_046246 p.Ala1227Thr Polymorphism - - CNTNAP2 Q9UHC6 VAR_046247 p.Ile1253Thr Polymorphism - - CNTNAP2 Q9UHC6 VAR_046248 p.Thr1278Ile Polymorphism - - CNTNAP3 Q9BZ76 VAR_046710 p.Ala628Ser Polymorphism rs1758272 - CNTNAP3 Q9BZ76 VAR_046711 p.Arg845His Polymorphism rs7852039 - CNTNAP4 Q9C0A0 VAR_050268 p.Gln513His Polymorphism rs6564343 - CNTNAP4 Q9C0A0 VAR_050269 p.Asp1155Glu Polymorphism rs7202925 - CNTNAP4 Q9C0A0 VAR_050270 p.Asn1300Ser Polymorphism rs34198820 - CNTNAP4 Q9C0A0 VAR_061371 p.Leu276Val Polymorphism rs34251012 - CNTNAP4 Q9C0A0 VAR_061372 p.Gln786Arg Polymorphism rs12933808 - CNTNAP5 Q8WYK1 VAR_038518 p.Ser452Leu Polymorphism rs17727261 - CNTNAP5 Q8WYK1 VAR_038519 p.Thr1195Met Polymorphism rs34165507 - CNTRL Q7Z7A1 VAR_039559 p.Val56Ile Polymorphism rs10818503 - CNTRL Q7Z7A1 VAR_039560 p.Pro216Leu Polymorphism rs10818504 - CNTRL Q7Z7A1 VAR_039561 p.Ala889Thr Polymorphism rs17292952 - CNTRL Q7Z7A1 VAR_061622 p.Met1146Val Polymorphism rs35342437 - CNTROB Q8N137 VAR_024787 p.Pro578Gln Polymorphism rs11650083 - CNTROB Q8N137 VAR_050877 p.Arg439Gln Polymorphism rs35421969 - COA5 Q86WW8 VAR_065499 p.Ala53Pro Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] COASY Q13057 VAR_030299 p.Ser55Tyr Polymorphism rs615942 - COBL O75128 VAR_029043 p.Asp577Ala Polymorphism rs10230120 - COBL O75128 VAR_029044 p.Val607Ile Polymorphism rs2240090 - COBL O75128 VAR_029045 p.Asp927Asn Polymorphism rs17134128 - COBL O75128 VAR_029046 p.Ala1015Pro Polymorphism rs17134127 - COBL O75128 VAR_050894 p.Pro526Leu Polymorphism rs17656599 - COBL O75128 VAR_050895 p.His919Gln Polymorphism rs2240089 - COCH O43405 VAR_008532 p.Pro51Ser Disease rs28938175 Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] COCH O43405 VAR_008533 p.Val66Gly Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] COCH O43405 VAR_008534 p.Gly88Glu Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] COCH O43405 VAR_008535 p.Ile109Asn Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] COCH O43405 VAR_008536 p.Trp117Arg Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] COCH O43405 VAR_011925 p.Thr352Ser Polymorphism rs1045644 - COCH O43405 VAR_011926 p.Pro532Ser Polymorphism rs1801963 - COCH O43405 VAR_017175 p.Ala119Thr Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] COCH O43405 VAR_022259 p.Gly135Arg Polymorphism rs28400035 - COCH O43405 VAR_022260 p.Asp281Asn Polymorphism rs28362775 - COCH O43405 VAR_022261 p.Ile402Val Polymorphism rs28362778 - COCH O43405 VAR_050896 p.Glu518Gly Polymorphism rs17097468 - COG1 Q8WTW3 VAR_020415 p.Asn392Ser Polymorphism rs1026128 - COG1 Q8WTW3 VAR_048756 p.Tyr744Cys Polymorphism rs7208207 - COG1 Q8WTW3 VAR_059231 p.Met357Leu Polymorphism rs4375725 - COG2 Q14746 VAR_029274 p.Asn304Lys Polymorphism rs6681346 - COG2 Q14746 VAR_048757 p.Arg288His Polymorphism rs34796217 - COG2 Q14746 VAR_048758 p.Val589Ile Polymorphism rs34109129 - COG3 Q96JB2 VAR_036454 p.Arg620Cys Unclassified - A breast cancer sample COG3 Q96JB2 VAR_055663 p.Asn747Ser Polymorphism rs2274285 - COG4 Q9H9E3 VAR_058009 p.Thr158Ile Polymorphism rs3931036 - COG4 Q9H9E3 VAR_063767 p.Arg729Trp Disease - Congenital disorder of glycosylation type 2J (CDG2J) [MIM:613489] COG5 Q9UP83 VAR_039142 p.Phe330Leu Polymorphism rs2269970 - COG5 Q9UP83 VAR_039143 p.Ser558Pro Polymorphism - - COG5 Q9UP83 VAR_039182 p.Ile365Val Polymorphism rs34087251 - COG5 Q9UP83 VAR_055664 p.His452Arg Polymorphism rs35393416 - COG6 Q9Y2V7 VAR_048759 p.Ala10Thr Polymorphism rs3812882 - COG6 Q9Y2V7 VAR_048760 p.Cys32Ser Polymorphism rs3812883 - COG6 Q9Y2V7 VAR_048761 p.His300Tyr Polymorphism rs34555836 - COG6 Q9Y2V7 VAR_061110 p.Met447Thr Polymorphism rs41286961 - COG7 P83436 VAR_048762 p.Thr605Met Polymorphism rs16940094 - COG8 Q96MW5 VAR_047655 p.Leu517Arg Polymorphism rs3027 - COL10A1 Q03692 VAR_001838 p.Gly18Glu Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001839 p.Gly18Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001840 p.Gly545Arg Polymorphism rs2228547 - COL10A1 Q03692 VAR_001841 p.Cys591Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001842 p.Gly595Glu Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001843 p.Tyr597His Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001844 p.Tyr598Asp Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001845 p.Ser600Pro Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001846 p.Leu614Pro Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001847 p.Asn617Lys Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001848 p.Gly618Val Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001849 p.Leu644Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_001850 p.Asp648Gly Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_008039 p.Tyr597Cys Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023186 p.Met27Thr Polymorphism rs1064583 - COL10A1 Q03692 VAR_023187 p.Arg198His Polymorphism - - COL10A1 Q03692 VAR_023188 p.Tyr582Asp Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023189 p.Gly595Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023190 p.Val603Met Polymorphism - - COL10A1 Q03692 VAR_023191 p.Trp651Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023192 p.Gln653Pro Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_023193 p.Ser671Pro Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] COL10A1 Q03692 VAR_048767 p.Gly98Arg Polymorphism rs2243370 - COL11A1 P12107 VAR_013583 p.Gly625Val Disease - Stickler syndrome type 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_013584 p.Gly676Arg Disease - Stickler syndrome type 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_013587 p.Gly1516Val Disease - Stickler syndrome type 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_035743 p.Ala1326Val Unclassified - A breast cancer sample COL11A1 P12107 VAR_035744 p.Gln1328Lys Unclassified - A breast cancer sample COL11A1 P12107 VAR_035745 p.Gln1328Leu Unclassified - A breast cancer sample COL11A1 P12107 VAR_047723 p.Trp8Gly Polymorphism rs12025888 - COL11A1 P12107 VAR_047724 p.Asp46Glu Polymorphism rs11164663 - COL11A1 P12107 VAR_047725 p.Gly559Ser Polymorphism rs12143815 - COL11A1 P12107 VAR_047726 p.Pro1323Leu Polymorphism rs3753841 - COL11A1 P12107 VAR_047727 p.Ser1535Pro Polymorphism rs1676486 - COL11A1 P12107 VAR_047728 p.Leu1805Phe Polymorphism rs1975916 - COL11A1 P12107 VAR_063675 p.Gly565Val Disease - Stickler syndrome type 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_063676 p.Gly1027Arg Disease - Stickler syndrome type 2 (STL2) [MIM:604841] COL11A1 P12107 VAR_063678 p.Gly1513Asp Disease - Stickler syndrome type 2 (STL2) [MIM:604841] COL11A2 P13942 VAR_001907 p.Gly661Arg Disease - Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150] COL11A2 P13942 VAR_010655 p.Gly808Glu Disease - Deafness autosomal dominant type 13 (DFNA13) [MIM:601868] COL11A2 P13942 VAR_010656 p.Arg1034Cys Disease - Deafness autosomal dominant type 13 (DFNA13) [MIM:601868] COL11A2 P13942 VAR_013591 p.Asp593Gly Polymorphism - - COL11A2 P13942 VAR_013592 p.Glu824Lys Polymorphism rs1799909 - COL11A2 P13942 VAR_013593 p.Pro879Leu Polymorphism - - COL11A2 P13942 VAR_013595 p.Gly1441Glu Disease - Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610] COL11A2 P13942 VAR_013596 p.Pro1316Thr Polymorphism rs2229784 - COL11A2 P13942 VAR_013597 p.Arg1600Gln Polymorphism rs1799912 - COL11A2 P13942 VAR_025276 p.Pro621Thr Disease - Deafness autosomal recessive type 53 (DFNB53) [MIM:609706] COL11A2 P13942 VAR_033797 p.Glu1628Asp Polymorphism rs2229790 - COL11A2 P13942 VAR_048804 p.Pro236Ser Polymorphism rs35116188 - COL11A2 P13942 VAR_048805 p.Glu276Lys Polymorphism rs9277934 - COL11A2 P13942 VAR_048806 p.Leu894Pro Polymorphism rs2855430 - COL11A2 P13942 VAR_048807 p.Pro1722Leu Polymorphism rs2229792 - COL12A1 Q99715 VAR_032059 p.Gly3058Ser Polymorphism rs970547 - COL12A1 Q99715 VAR_048768 p.Ala461Pro Polymorphism rs34730529 - COL12A1 Q99715 VAR_048769 p.Ile1738Thr Polymorphism rs240736 - COL12A1 Q99715 VAR_048770 p.Glu2160Val Polymorphism rs35523808 - COL12A1 Q99715 VAR_048771 p.Ile2596Val Polymorphism rs35710072 - COL12A1 Q99715 VAR_061111 p.Arg2021Gln Polymorphism rs34438461 - COL12A1 Q99715 VAR_061112 p.Gln3048His Polymorphism rs57396313 - COL13A1 Q5TAT6 VAR_055670 p.His531Gln Polymorphism rs1061954 - COL14A1 Q05707 VAR_048772 p.Asn563His Polymorphism rs4870723 - COL14A1 Q05707 VAR_048773 p.Pro855Leu Polymorphism rs2305606 - COL14A1 Q05707 VAR_048774 p.Val922Ile Polymorphism rs11774228 - COL14A1 Q05707 VAR_048775 p.Val1342Leu Polymorphism rs17833992 - COL14A1 Q05707 VAR_061113 p.Thr636Ala Polymorphism rs56815167 - COL15A1 P39059 VAR_033787 p.Arg163His Polymorphism rs2075662 - COL15A1 P39059 VAR_033788 p.Met204Val Polymorphism rs2075663 - COL15A1 P39059 VAR_033789 p.Thr391Met Polymorphism rs10988532 - COL15A1 P39059 VAR_033790 p.Ala442Thr Polymorphism rs16918128 - COL15A1 P39059 VAR_033791 p.Gly446Arg Polymorphism rs35934703 - COL15A1 P39059 VAR_033792 p.Glu506Asp Polymorphism rs35250850 - COL15A1 P39059 VAR_033793 p.Pro531Arg Polymorphism rs35529307 - COL15A1 P39059 VAR_033794 p.Lys989Arg Polymorphism rs35642150 - COL15A1 P39059 VAR_033795 p.Lys1001Arg Polymorphism rs35544077 - COL15A1 P39059 VAR_033796 p.Val1332Ile Polymorphism rs10519 - COL15A1 P39059 VAR_048776 p.Gly504Val Polymorphism rs2297603 - COL15A1 P39059 VAR_061114 p.Pro705Leu Polymorphism rs41308900 - COL16A1 Q07092 VAR_031440 p.Thr62Lys Polymorphism rs2228552 - COL16A1 Q07092 VAR_048777 p.Gln27His Polymorphism rs2229802 - COL16A1 Q07092 VAR_048778 p.Arg418Gln Polymorphism rs6699645 - COL16A1 Q07092 VAR_048779 p.Gly745Ser Polymorphism rs34770879 - COL16A1 Q07092 VAR_048780 p.Pro909Leu Polymorphism rs2229804 - COL17A1 Q9UMD9 VAR_017593 p.Thr210Met Polymorphism rs805708 - COL17A1 Q9UMD9 VAR_017594 p.Met231Ile Polymorphism rs1054113 - COL17A1 Q9UMD9 VAR_017595 p.Met238Thr Polymorphism - - COL17A1 Q9UMD9 VAR_017596 p.Ser265Cys Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] COL17A1 Q9UMD9 VAR_017597 p.Gly428Ser Polymorphism rs805698 - COL17A1 Q9UMD9 VAR_017598 p.Gly627Val Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] COL17A1 Q9UMD9 VAR_017599 p.Gly633Asp Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] COL17A1 Q9UMD9 VAR_017600 p.Met703Val Polymorphism rs805722 - COL17A1 Q9UMD9 VAR_017601 p.Arg1303Gln Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] COL17A1 Q9UMD9 VAR_017602 p.Asp1370Gly Polymorphism rs17116350 - COL17A1 Q9UMD9 VAR_048781 p.Thr4Ala Polymorphism rs17116471 - COL18A1 P39060 VAR_012709 p.Asp1675Asn Unclassified - - COL18A1 P39060 VAR_018053 p.Gln49Leu Polymorphism - - COL18A1 P39060 VAR_018054 p.Gly111Arg Polymorphism - - COL18A1 P39060 VAR_018055 p.Val1076Ile Polymorphism - - COL18A1 P39060 VAR_018056 p.Pro1121Arg Polymorphism - - COL18A1 P39060 VAR_059232 p.Ala288Thr Polymorphism rs11702494 - COL18A1 P39060 VAR_059233 p.Gln1195His Polymorphism rs2230693 - COL18A1 P39060 VAR_061115 p.Thr379Met Polymorphism rs8133886 - COL19A1 Q14993 VAR_024419 p.Ala352Gly Polymorphism rs2273426 - COL19A1 Q14993 VAR_035746 p.Gly361Asp Unclassified - A breast cancer sample COL19A1 Q14993 VAR_035747 p.Lys1019Asn Unclassified - A breast cancer sample COL19A1 Q14993 VAR_048782 p.Gly406Glu Polymorphism rs13204209 - COL19A1 Q14993 VAR_048783 p.Glu496Gly Polymorphism rs13204209 - COL1A1 P02452 VAR_001642 p.Gly197Cys Polymorphism rs8179178 - COL1A1 P02452 VAR_001643 p.Pro205Ala Polymorphism - - COL1A1 P02452 VAR_001644 p.Gly221Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001645 p.Gly224Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001646 p.Gly263Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001647 p.Gly263Val Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001648 p.Gly272Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001649 p.Gly275Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001650 p.Gly332Arg Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001651 p.Gly350Arg Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001652 p.Gly353Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001653 p.Gly356Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001654 p.Gly383Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001655 p.Gly389Cys Unclassified - - COL1A1 P02452 VAR_001656 p.Gly389Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001657 p.Gly398Ala Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001658 p.Gly398Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001659 p.Gly401Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001660 p.Gly404Cys Unclassified - - COL1A1 P02452 VAR_001661 p.Gly422Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001662 p.Gly425Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001663 p.Gly434Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001664 p.Gly476Arg Disease rs57377812 Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001665 p.Gly527Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001666 p.Gly530Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001666 p.Gly530Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001666 p.Gly530Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001667 p.Gly533Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001668 p.Gly560Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001669 p.Gly560Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001670 p.Gly560Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001671 p.Arg564His Polymorphism rs1800211 - COL1A1 P02452 VAR_001672 p.Gly569Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001673 p.Gly593Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001673 p.Gly593Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001674 p.Gly593Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001674 p.Gly593Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001676 p.Gly656Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001677 p.Gly701Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001678 p.Gly704Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001679 p.Gly719Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001680 p.Gly719Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001681 p.Gly728Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001682 p.Gly737Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001683 p.Gly743Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001684 p.Gly743Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001685 p.Gly764Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001686 p.Gly767Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001687 p.Gly776Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001688 p.Gly809Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001689 p.Gly815Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001690 p.Gly821Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001691 p.Pro823Ala Polymorphism rs1800214 - COL1A1 P02452 VAR_001692 p.Gly839Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001693 p.Gly842Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001694 p.Gly845Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001695 p.Gly851Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001696 p.Gly869Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001697 p.Gly884Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001697 p.Gly884Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001698 p.Gly896Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001699 p.Gly926Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001700 p.Gly980Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001701 p.Gly1010Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001702 p.Gly1022Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001703 p.Gly1022Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001704 p.Gly1025Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001705 p.Gly1040Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001705 p.Gly1040Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001706 p.Gly1043Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001708 p.Gly1049Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001709 p.Gly1058Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001709 p.Gly1058Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001710 p.Gly1061Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001711 p.Gly1061Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_001712 p.Thr1075Ala Polymorphism rs1800215 - COL1A1 P02452 VAR_001713 p.Gly1076Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001714 p.Gly1079Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001714 p.Gly1079Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001715 p.Gly1082Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001716 p.Gly1088Ala Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001717 p.Gly1091Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001718 p.Gly1100Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001719 p.Gly1106Ala Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001720 p.Gly1124Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001721 p.Gly1142Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001722 p.Gly1151Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001723 p.Gly1151Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001724 p.Gly1154Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001725 p.Gly1166Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001726 p.Gly1172Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001727 p.Gly1181Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001728 p.Gly1184Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001729 p.Gly1187Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001729 p.Gly1187Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_001730 p.Gly1187Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001731 p.Gly1195Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_001732 p.Asp1277His Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001733 p.Trp1312Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001735 p.Leu1388Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_001736 p.Thr1434Ser Polymorphism rs1800220 - COL1A1 P02452 VAR_001737 p.Leu1464Pro Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_008118 p.Gly866Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_008118 p.Gly866Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_013579 p.Arg312Cys Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] COL1A1 P02452 VAR_030013 p.Gly1019Ala Polymorphism rs1135348 - COL1A1 P02452 VAR_030014 p.Ser1251Thr Polymorphism rs3205325 - COL1A1 P02452 VAR_030015 p.Gln1391Lys Polymorphism rs2586486 - COL1A1 P02452 VAR_030016 p.Pro1438Arg Polymorphism rs17857117 - COL1A1 P02452 VAR_030017 p.Pro1460His Polymorphism rs17853657 - COL1A1 P02452 VAR_033097 p.Arg1014Cys Disease - Caffey disease (CAFFD) [MIM:114000] COL1A1 P02452 VAR_033778 p.Arg1141Gln Polymorphism rs41316713 - COL1A1 P02452 VAR_033779 p.Val1177Ile Polymorphism rs41316719 - COL1A1 P02452 VAR_033780 p.Lys1430Asn Polymorphism rs1059454 - COL1A1 P02452 VAR_033781 p.Thr1431Pro Polymorphism rs1059454 - COL1A1 P02452 VAR_063290 p.Gly22Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063291 p.Pro146Thr Unclassified - - COL1A1 P02452 VAR_063292 p.Gly194Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063293 p.Gly197Arg Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063294 p.Gly200Val Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063295 p.Gly203Val Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A1 P02452 VAR_063296 p.Gly242Asp Unclassified - - COL1A1 P02452 VAR_063297 p.Gly257Arg Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063298 p.Gly266Glu Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063299 p.Gly287Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063300 p.Glu288Lys Unclassified - - COL1A1 P02452 VAR_063301 p.Glu288Val Unclassified - - COL1A1 P02452 VAR_063302 p.Gly320Val Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063303 p.Gly338Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063304 p.Val349Phe Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063305 p.Gly353Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063306 p.Gly353Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063307 p.Gly368Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063308 p.Ala390Thr Unclassified - - COL1A1 P02452 VAR_063309 p.Gly455Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063310 p.Gly470Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063311 p.Gly509Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063312 p.Gly548Ala Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063313 p.Pro555Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063314 p.Arg574Cys Unclassified - - COL1A1 P02452 VAR_063315 p.Gly581Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063316 p.Gly602Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063317 p.Gly605Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063318 p.Gly614Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063319 p.Gly647Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063320 p.Gly683Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A1 P02452 VAR_063321 p.Gly722Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063322 p.Gly734Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063323 p.Gly740Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063324 p.Gly824Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063325 p.Gly833Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063326 p.Asn855His Unclassified - - COL1A1 P02452 VAR_063327 p.Gly875Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063328 p.Gly896Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063329 p.Gly906Ser Unclassified - - COL1A1 P02452 VAR_063330 p.Gly947Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063331 p.Gly977Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063332 p.Gly1001Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063334 p.Gly1055Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063335 p.Arg1066Cys Unclassified - - COL1A1 P02452 VAR_063336 p.Arg1093Cys Unclassified - - COL1A1 P02452 VAR_063337 p.Gly1094Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063338 p.Gly1157Asp Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063339 p.Asp1219Glu Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A1 P02452 VAR_063340 p.Arg1356His Polymorphism - - COL1A1 P02452 VAR_063341 p.Asp1413Asn Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A1 P02452 VAR_063342 p.Gly848Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001852 p.Gly211Asp Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_001853 p.Ile249Asn Polymorphism rs1800228 - COL1A2 P08123 VAR_001854 p.Ala276Thr Polymorphism rs1800231 - COL1A2 P08123 VAR_001855 p.Gly328Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_001856 p.Gly334Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001857 p.Gly337Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001858 p.Gly337Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001860 p.Gly349Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001861 p.Gly409Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001862 p.Gly433Glu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001863 p.Gly460Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001864 p.Gly511Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001865 p.Gly517Arg Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001866 p.Gly547Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001867 p.Pro549Ala Polymorphism rs42524 - COL1A2 P08123 VAR_001868 p.Gly562Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001869 p.Gly586Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001870 p.Gly592Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001871 p.Gly634Val Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001872 p.Gly637Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001873 p.Gly640Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001874 p.Gly670Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001875 p.Gly676Val Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001875 p.Gly676Val Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001876 p.Arg708Gln Unclassified - - COL1A2 P08123 VAR_001877 p.Gly715Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001878 p.Gly730Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001879 p.Gly736Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_001880 p.Ala743Gly Polymorphism rs408535 - COL1A2 P08123 VAR_001881 p.Gly751Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001882 p.Gly754Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001883 p.Gly766Val Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001884 p.Gly778Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001885 p.Gly784Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001886 p.Gly787Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001887 p.Gly790Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001888 p.Gly796Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001889 p.Arg822His Polymorphism rs1800240 - COL1A2 P08123 VAR_001890 p.Gly835Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_001891 p.Gly877Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001892 p.Gly892Asp Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001892 p.Gly892Asp Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001893 p.Gly895Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001894 p.Gly949Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001895 p.Gly955Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001896 p.Gly997Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001897 p.Gly1012Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001897 p.Gly1012Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001898 p.Leu1022Phe Polymorphism rs392609 - COL1A2 P08123 VAR_001899 p.Gly1066Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001900 p.Gly1078Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_001901 p.Gly1096Ala Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001902 p.Gly1102Arg Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_001903 p.Pro1101Leu Polymorphism - - COL1A2 P08123 VAR_001904 p.Thr1148Pro Disease rs1800250 Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_001905 p.Asp1189Glu Polymorphism rs422361 - COL1A2 P08123 VAR_001906 p.Ser1198Pro Polymorphism rs384487 - COL1A2 P08123 VAR_008119 p.Gly331Asp Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_008120 p.Gly973Val Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_030116 p.Thr59Pro Polymorphism rs1800221 - COL1A2 P08123 VAR_030118 p.Val270Ile Polymorphism rs368468 - COL1A2 P08123 VAR_030119 p.Ala483Val Polymorphism rs414408 - COL1A2 P08123 VAR_030121 p.Pro678His Polymorphism rs409108 - COL1A2 P08123 VAR_030122 p.Gln1354His Polymorphism rs418570 - COL1A2 P08123 VAR_033040 p.Asn528Ser Polymorphism rs41317144 - COL1A2 P08123 VAR_033041 p.Ala564Thr Polymorphism rs41317153 - COL1A2 P08123 VAR_055677 p.Leu344Val Polymorphism rs16868573 - COL1A2 P08123 VAR_063343 p.Gly193Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063344 p.Gly202Arg Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063345 p.Arg234Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063346 p.Gly247Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_063347 p.Gly253Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063348 p.Gly256Val Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063349 p.Gly283Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063350 p.Gly319Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_063351 p.Gly325Glu Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063352 p.Gly358Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063353 p.Gly397Glu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063354 p.Gly454Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063355 p.Gly457Leu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063357 p.Gly526Glu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063358 p.Gly562Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063359 p.Gly601Ser Unclassified - - COL1A2 P08123 VAR_063360 p.Gly625Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063361 p.Gly676Asp Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063363 p.Gly733Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL1A2 P08123 VAR_063364 p.Gly739Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063365 p.Gly748Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063366 p.Gly754Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220] COL1A2 P08123 VAR_063370 p.Gly820Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063371 p.Gly835Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063372 p.Gly856Arg Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063373 p.Gly856Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063374 p.Gly955Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063375 p.Gly982Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063377 p.Gly991Val Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063378 p.Gly1003Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063379 p.Gly1027Glu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210] COL1A2 P08123 VAR_063381 p.Gly1087Asp Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420] COL1A2 P08123 VAR_063383 p.Cys1195Tyr Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200] COL20A1 Q9P218 VAR_055671 p.Pro134Leu Polymorphism rs753686 - COL21A1 Q96P44 VAR_038555 p.Leu277Pro Polymorphism rs2764043 - COL21A1 Q96P44 VAR_038556 p.Thr343Met Polymorphism rs35471617 - COL21A1 Q96P44 VAR_038557 p.Ile495Thr Polymorphism rs35583895 - COL21A1 Q96P44 VAR_038558 p.Gly560Ser Polymorphism rs9382581 - COL21A1 Q96P44 VAR_038559 p.Ala747Asp Polymorphism rs9464337 - COL21A1 Q96P44 VAR_038560 p.Leu821Pro Polymorphism rs12209452 - COL21A1 Q96P44 VAR_038561 p.Pro827Ala Polymorphism rs1555131 - COL22A1 Q8NFW1 VAR_038562 p.Ser320Gly Polymorphism rs2292927 - COL22A1 Q8NFW1 VAR_038563 p.Pro703Thr Polymorphism rs10111520 - COL22A1 Q8NFW1 VAR_038564 p.Ala938Asp Polymorphism rs4909444 - COL23A1 Q86Y22 VAR_026964 p.Thr287Ala Polymorphism rs890802 - COL24A1 Q17RW2 VAR_038565 p.Gly1423Arg Polymorphism rs7520146 - COL24A1 Q17RW2 VAR_055672 p.Pro151Leu Polymorphism rs1027819 - COL24A1 Q17RW2 VAR_055673 p.Ile293Thr Polymorphism rs17128866 - COL24A1 Q17RW2 VAR_055674 p.Met481Leu Polymorphism rs10493784 - COL24A1 Q17RW2 VAR_055675 p.Pro546Ser Polymorphism rs11161732 - COL24A1 Q17RW2 VAR_055676 p.Pro731Ser Polymorphism rs641712 - COL24A1 Q17RW2 VAR_061116 p.Arg641His Polymorphism rs60891279 - COL24A1 Q17RW2 VAR_062865 p.Ala61Val Polymorphism rs11161747 - COL26A1 Q96A83 VAR_057530 p.Pro427Leu Polymorphism rs17471501 - COL27A1 Q8IZC6 VAR_048784 p.Val89Ile Polymorphism rs2567707 - COL27A1 Q8IZC6 VAR_048785 p.Gln120Arg Polymorphism rs2567706 - COL27A1 Q8IZC6 VAR_048786 p.Ala265Thr Polymorphism rs34578955 - COL27A1 Q8IZC6 VAR_048787 p.Arg349Cys Polymorphism rs34973417 - COL27A1 Q8IZC6 VAR_048788 p.Ala422Thr Polymorphism rs2241671 - COL27A1 Q8IZC6 VAR_048789 p.Ile537Thr Polymorphism rs2808770 - COL27A1 Q8IZC6 VAR_048790 p.Ile611Phe Polymorphism rs2567705 - COL27A1 Q8IZC6 VAR_048791 p.Pro720Arg Polymorphism rs35446342 - COL27A1 Q8IZC6 VAR_048792 p.Pro1116Gln Polymorphism rs7048607 - COL27A1 Q8IZC6 VAR_048793 p.Arg1348Gln Polymorphism rs1631319 - COL27A1 Q8IZC6 VAR_048794 p.Arg1354Gln Polymorphism rs10982134 - COL27A1 Q8IZC6 VAR_048795 p.Met1808Val Polymorphism rs3736252 - COL28A1 Q2UY09 VAR_038566 p.Ala189Gly Polymorphism rs7804532 - COL28A1 Q2UY09 VAR_038567 p.Ile239Val Polymorphism rs10486180 - COL28A1 Q2UY09 VAR_038568 p.Thr327Ser Polymorphism rs10486176 - COL28A1 Q2UY09 VAR_038569 p.Glu433Asp Polymorphism rs6952195 - COL28A1 Q2UY09 VAR_038570 p.Ala472Pro Polymorphism rs17167927 - COL28A1 Q2UY09 VAR_038571 p.Arg741Gln Polymorphism rs17167102 - COL28A1 Q2UY09 VAR_061117 p.Ile437Met Polymorphism rs55745506 - COL2A1 P02458 VAR_001738 p.Gly267Asp Disease - Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508] COL2A1 P02458 VAR_001739 p.Arg275Cys Disease - Czech dysplasia (CZECHD) [MIM:609162] COL2A1 P02458 VAR_001741 p.Gly303Asp Disease - Kniest dysplasia (KD) [MIM:156550] COL2A1 P02458 VAR_001742 p.Gly354Arg Unclassified - - COL2A1 P02458 VAR_001743 p.Gly375Arg Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001744 p.Gly447Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001745 p.Gly492Val Disease - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_001746 p.Gly504Cys Disease - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_001747 p.Gly510Asp Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001748 p.Arg719Cys Disease - Osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864] COL2A1 P02458 VAR_001749 p.Gly774Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001751 p.Gly804Ala Unclassified - - COL2A1 P02458 VAR_001752 p.Gly891Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001752 p.Gly891Arg Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001753 p.Gly909Cys Disease - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_001754 p.Gly969Ser Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001755 p.Arg989Cys Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001756 p.Gly1005Ser Unclassified - - COL2A1 P02458 VAR_001757 p.Gly1017Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001758 p.Gly1053Glu Unclassified - - COL2A1 P02458 VAR_001759 p.Gly1110Cys Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001760 p.Gly1113Cys Unclassified - - COL2A1 P02458 VAR_001761 p.Gly1143Ser Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001763 p.Gly1176Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_001764 p.Gly1188Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_001765 p.Gly1197Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_017105 p.Thr1439Met Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_017638 p.Thr9Ser Polymorphism rs3803183 - COL2A1 P02458 VAR_017639 p.Gly453Asp Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017640 p.Gly453Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017641 p.Gly771Asp Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017642 p.Gly780Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017643 p.Gly795Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017644 p.Gly894Glu Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017645 p.Arg904Cys Disease - Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450] COL2A1 P02458 VAR_017645 p.Arg904Cys Disease - Stickler syndrome type 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_017646 p.Gly948Asp Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017647 p.Gly981Ser Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017649 p.Gly1065Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017650 p.Gly1119Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_017651 p.Gly1173Arg Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_017652 p.Val1331Ile Polymorphism rs12721427 - COL2A1 P02458 VAR_019836 p.Pro158Leu Polymorphism rs1050861 - COL2A1 P02458 VAR_023925 p.Gly318Arg Disease - Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508] COL2A1 P02458 VAR_023926 p.Gly516Asp Unclassified - - COL2A1 P02458 VAR_023927 p.Arg565Cys Disease - Stickler syndrome type 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_023928 p.Leu667Phe Disease - Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508] COL2A1 P02458 VAR_023929 p.Gly717Ser Disease - Primary avascular necrosis of femoral head (ANFH) [MIM:608805] COL2A1 P02458 VAR_023930 p.Gly855Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1 P02458 VAR_023931 p.Gly897Val Disease - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_023932 p.Arg992Gly Disease - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] COL2A1 P02458 VAR_023933 p.Gly1170Ser Disease - Primary avascular necrosis of femoral head (ANFH) [MIM:608805] COL2A1 P02458 VAR_023934 p.Gly1305Asp Unclassified - - COL2A1 P02458 VAR_023935 p.Tyr1391Cys Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_024819 p.Gly513Ser Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_024820 p.Gly717Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_024821 p.Gly771Ala Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_024822 p.Thr1390Asn Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_024823 p.Thr1448Pro Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_024824 p.Asp1469His Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_024826 p.Cys1485Gly Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] COL2A1 P02458 VAR_033782 p.Glu142Asp Polymorphism rs34392760 - COL2A1 P02458 VAR_033783 p.Thr638Ile Polymorphism rs41263847 - COL2A1 P02458 VAR_033784 p.Ala1051Thr Polymorphism rs41272041 - COL2A1 P02458 VAR_033785 p.Gly1405Ser Polymorphism rs2070739 - COL2A1 P02458 VAR_063891 p.Cys57Tyr Disease - Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508] COL2A1 P02458 VAR_063892 p.Gly240Asp Disease - Stickler syndrome type 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063893 p.Gly270Arg Disease - Stickler syndrome type 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063894 p.Gly282Asp Disease - Stickler syndrome type 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063895 p.Gly453Ala Disease - Stickler syndrome type 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063896 p.Gly501Arg Disease - Stickler syndrome type 1 (STL1) [MIM:108300] COL2A1 P02458 VAR_063897 p.Asp547Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610] COL2A1 P02458 VAR_063898 p.Gly1158Ala Disease - Stickler syndrome type 1 (STL1) [MIM:108300] COL3A1 P02461 VAR_001767 p.Leu169Phe Disease - Aortic aneurysm abdominal (AAA) [MIM:100070] COL3A1 P02461 VAR_001768 p.Gly183Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001769 p.Gly201Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001770 p.Gly228Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001771 p.Gly303Arg Unclassified - - COL3A1 P02461 VAR_001772 p.Gly540Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001773 p.Gly567Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001774 p.Gly582Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001775 p.Pro602Thr Polymorphism rs35795890 - COL3A1 P02461 VAR_001776 p.Pro635Leu Polymorphism - - COL3A1 P02461 VAR_001777 p.Gly666Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001778 p.Ala698Thr Polymorphism rs1800255 - COL3A1 P02461 VAR_001779 p.Gly726Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001780 p.Gly756Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001781 p.Gly762Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001782 p.Gly786Arg Disease - Aortic aneurysm abdominal (AAA) [MIM:100070] COL3A1 P02461 VAR_001783 p.Gly804Ser Disease - Ehlers-Danlos syndrome type 3 (EDS3) [MIM:130020] COL3A1 P02461 VAR_001784 p.Gly828Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001785 p.Gly909Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001786 p.Gly936Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001787 p.Gly936Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001788 p.Gly939Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001789 p.Gly957Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001790 p.Gly960Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001791 p.Gly996Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001792 p.Gly1014Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001793 p.Gly1050Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001794 p.Gly1071Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001795 p.Gly1077Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001796 p.Gly1101Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001797 p.Gly1104Ala Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001798 p.Gly1164Ser Unclassified - - COL3A1 P02461 VAR_001799 p.Gly1167Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001800 p.Gly1170Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001801 p.Gly1173Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001802 p.Gly1176Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001803 p.Gly1182Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001804 p.Gly1185Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001805 p.Gly1185Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001806 p.Gly1188Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_001807 p.Gly1188Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011095 p.Gly183Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011096 p.Gly183Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011097 p.Gly192Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011098 p.Gly204Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011099 p.Gly204Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011100 p.Gly210Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011101 p.Gly219Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011102 p.Gly225Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011103 p.Gly240Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011104 p.Gly243Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011105 p.Gly249Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011106 p.Gly249Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011107 p.Gly252Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011108 p.Gly252Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011109 p.Gly252Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011110 p.Gly255Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011111 p.Gly264Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011112 p.Gly267Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011113 p.Gly321Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011114 p.Gly327Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011115 p.Gly345Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011116 p.Gly417Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011117 p.Gly444Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011118 p.Gly489Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011119 p.Gly501Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011120 p.Gly519Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011121 p.Gly549Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011122 p.Gly552Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011123 p.Gly588Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011124 p.Gly636Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011125 p.Gly657Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011126 p.Gly660Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011127 p.Pro668Thr Polymorphism rs1801183 - COL3A1 P02461 VAR_011128 p.Gly699Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011129 p.Gly738Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011130 p.Gly738Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011131 p.Gly744Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011132 p.Gly828Trp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011133 p.Gly852Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011134 p.Gly879Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011135 p.Gly882Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011136 p.Gly900Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011137 p.Gly903Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011138 p.Gly909Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011139 p.Gly918Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011140 p.Gly924Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011141 p.Gly942Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011142 p.Gly966Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011143 p.Gly972Ala Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011144 p.Gly984Thr Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011145 p.Gly999Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011146 p.Gly1011Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011147 p.Gly1032Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011148 p.Gly1035Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011149 p.Gly1044Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011150 p.Gly1050Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011151 p.Gly1089Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011152 p.Gly1098Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011153 p.Gly1098Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011154 p.Gly1161Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011155 p.Gly1164Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011156 p.Gly1164Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011157 p.Gly1170Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011158 p.Gly1173Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_011159 p.Gly1179Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_020012 p.Ile1205Val Polymorphism rs2271683 - COL3A1 P02461 VAR_030115 p.His1353Gln Polymorphism rs1516446 - COL3A1 P02461 VAR_035738 p.Gly420Ser Unclassified - A colorectal cancer sample COL3A1 P02461 VAR_035739 p.Arg1434Cys Unclassified - A colorectal cancer sample COL3A1 P02461 VAR_037007 p.Gly297Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] COL3A1 P02461 VAR_055665 p.Gly534Glu Polymorphism rs41263744 - COL3A1 P02461 VAR_055666 p.Ala679Thr Polymorphism rs41263773 - COL3A1 P02461 VAR_055667 p.Pro686Ala Polymorphism rs41263775 - COL4A1 P02462 VAR_020013 p.Gln1334His Polymorphism rs3742207 - COL4A1 P02462 VAR_030027 p.Val7Leu Polymorphism rs9515185 - COL4A1 P02462 VAR_030028 p.Gly562Glu Disease - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] COL4A1 P02462 VAR_030029 p.Gly749Ser Disease - Familial porencephaly (POREN1) [MIM:175780] COL4A1 P02462 VAR_030030 p.Gly1130Asp Disease - Familial porencephaly (POREN1) [MIM:175780] COL4A1 P02462 VAR_030031 p.Gly1236Arg Disease - Familial porencephaly (POREN1) [MIM:175780] COL4A1 P02462 VAR_030032 p.Gly1423Arg Disease - Familial porencephaly (POREN1) [MIM:175780] COL4A1 P02462 VAR_030511 p.Thr555Pro Polymorphism rs536174 - COL4A1 P02462 VAR_044158 p.Pro304Leu Polymorphism rs34843786 - COL4A1 P02462 VAR_044159 p.Gly498Val Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_044160 p.Gly519Arg Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_044161 p.Gly528Glu Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_064493 p.Gly498Arg Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_064494 p.Gly510Arg Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_064495 p.Gly525Leu Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] COL4A1 P02462 VAR_064496 p.Gly720Asp Disease - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] COL4A1 P02462 VAR_064497 p.Gly755Arg Disease - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] COL4A1 P02462 VAR_064498 p.Gly805Arg Disease - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] COL4A1 P02462 VAR_064499 p.Gly1580Arg Disease - Familial porencephaly (POREN1) [MIM:175780] COL4A2 P08572 VAR_048796 p.Arg517Lys Polymorphism rs7990383 - COL4A2 P08572 VAR_048797 p.Gly683Ala Polymorphism rs3803230 - COL4A3BP Q9Y5P4 VAR_061815 p.Lys599Arg Polymorphism rs55882089 - COL4A3 Q01955 VAR_001908 p.Leu1474Pro Polymorphism - - COL4A3 Q01955 VAR_001909 p.Gln1495Arg Polymorphism - - COL4A3 Q01955 VAR_011202 p.Gly43Arg Polymorphism rs13424243 - COL4A3 Q01955 VAR_011203 p.Glu162Gly Polymorphism rs6436669 - COL4A3 Q01955 VAR_011204 p.Gly297Glu Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_011205 p.Asp326Tyr Polymorphism rs55703767 - COL4A3 Q01955 VAR_011206 p.Gly407Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_011207 p.Arg408His Polymorphism rs34505188 - COL4A3 Q01955 VAR_011208 p.His451Arg Polymorphism rs11677877 - COL4A3 Q01955 VAR_011209 p.Pro574Leu Polymorphism rs28381984 - COL4A3 Q01955 VAR_011210 p.Gly640Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_011211 p.Gly1167Arg Disease - Alport syndrome autosomal dominant (APSAD) [MIM:104200] COL4A3 Q01955 VAR_011212 p.Gly1207Glu Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_011213 p.Arg1215Gln Unclassified - - COL4A3 Q01955 VAR_011214 p.Asp1269Glu Polymorphism rs57611801 - COL4A3 Q01955 VAR_011215 p.Gly1277Ser Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_011216 p.Ile1330Thr Unclassified - - COL4A3 Q01955 VAR_011217 p.Gly1334Glu Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_011218 p.Asp1347Glu Unclassified - - COL4A3 Q01955 VAR_011219 p.Arg1661Cys Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_030944 p.Leu141Pro Polymorphism rs10178458 - COL4A3 Q01955 VAR_030945 p.Gly532Asp Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_030946 p.Gly739Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_030947 p.Gly853Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_030948 p.Gly985Val Disease - Benign familial hematuria (BFH) [MIM:141200] COL4A3 Q01955 VAR_030949 p.Gly1015Glu Disease - Benign familial hematuria (BFH) [MIM:141200] COL4A3 Q01955 VAR_030950 p.Gly1216Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A3 Q01955 VAR_061118 p.Lys834Arg Polymorphism rs56226424 - COL4A4 P53420 VAR_001912 p.Gly897Glu Disease - Benign familial hematuria (BFH) [MIM:141200] COL4A4 P53420 VAR_001913 p.Gly1201Ser Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A4 P53420 VAR_008149 p.Gly545Ala Polymorphism rs1800516 - COL4A4 P53420 VAR_008150 p.Glu570Gln Polymorphism - - COL4A4 P53420 VAR_008151 p.Ala931Thr Polymorphism - - COL4A4 P53420 VAR_008152 p.Pro1004Leu Polymorphism rs1800517 - COL4A4 P53420 VAR_008153 p.Gly1030Val Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A4 P53420 VAR_008154 p.Pro1402Ser Polymorphism - - COL4A4 P53420 VAR_008155 p.Pro1572Leu Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780] COL4A4 P53420 VAR_022069 p.Pro482Ser Polymorphism rs2229814 - COL4A4 P53420 VAR_031622 p.Ile6Thr Polymorphism rs16823264 - COL4A4 P53420 VAR_031623 p.Gly116Glu Disease - Benign familial hematuria (BFH) [MIM:141200] COL4A4 P53420 VAR_031624 p.Gly960Arg Disease - Benign familial hematuria (BFH) [MIM:141200] COL4A4 P53420 VAR_031625 p.Gly999Glu Disease rs13027659 Benign familial hematuria (BFH) [MIM:141200] COL4A4 P53420 VAR_031626 p.Pro1132Leu Disease - Benign familial hematuria (BFH) [MIM:141200] COL4A4 P53420 VAR_031627 p.Val1327Met Polymorphism rs2229813 - COL4A4 P53420 VAR_031628 p.Ser1403Pro Polymorphism rs3752895 - COL4A4 P53420 VAR_055680 p.Glu594Gly Polymorphism rs35998949 - COL4A4 P53420 VAR_055681 p.Val670Ile Polymorphism rs34236495 - COL4A4 P53420 VAR_055682 p.Pro759Leu Polymorphism rs36121515 - COL4A5 P29400 VAR_001914 p.Gly54Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001915 p.Gly129Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001916 p.Gly129Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001917 p.Gly174Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001918 p.Gly177Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001919 p.Gly216Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001920 p.Gly219Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001921 p.Gly289Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001922 p.Gly292Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001923 p.Gly325Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001924 p.Gly325Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001925 p.Gly365Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001927 p.Gly371Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001928 p.Gly374Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001929 p.Gly383Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001930 p.Gly400Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001931 p.Gly406Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001932 p.Gly409Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001933 p.Ala430Asp Polymorphism - - COL4A5 P29400 VAR_001934 p.Ile444Ser Polymorphism rs2272946 - COL4A5 P29400 VAR_001936 p.Gly466Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001937 p.Gly494Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001939 p.Gly521Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001940 p.Gly521Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001941 p.Gly567Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001942 p.Gly609Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001943 p.Gly638Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001944 p.Gly638Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001945 p.Gly653Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001946 p.Lys664Asn Polymorphism rs34077552 - COL4A5 P29400 VAR_001947 p.Gly684Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001948 p.Gly740Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001949 p.Gly772Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001950 p.Gly796Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001951 p.Gly852Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001952 p.Gly866Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001953 p.Gly869Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001954 p.Gly872Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001956 p.Gly1104Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001957 p.Gly1143Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001958 p.Gly1143Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001959 p.Gly1182Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001960 p.Gly1241Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001961 p.Gly1270Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001962 p.Gly1379Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001963 p.Arg1410Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001964 p.Gly1421Trp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001965 p.Arg1422Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001966 p.Gly1451Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001967 p.Ala1498Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001968 p.Pro1517Thr Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001969 p.Trp1538Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001970 p.Arg1563Gln Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001971 p.Cys1564Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001972 p.Gly1596Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001973 p.Leu1649Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_001974 p.Arg1677Gln Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_007991 p.Gly114Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_007992 p.Gly331Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_007993 p.Gly472Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_007994 p.Gly545Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_007995 p.Gly545Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_007996 p.Gly561Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_007997 p.Gly579Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_007998 p.Gly635Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_007999 p.Gly638Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008000 p.Gly669Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008001 p.Gly687Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008002 p.Gly743Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008003 p.Gly808Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008005 p.Gly852Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008006 p.Gly878Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008008 p.Gly1107Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008009 p.Gly1161Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008010 p.Gly1211Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008011 p.Gly1220Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008012 p.Gly1333Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008013 p.Gly1427Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008014 p.Gly1442Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008015 p.Gly1486Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_008016 p.Pro1559Ala Polymorphism - - COL4A5 P29400 VAR_011220 p.Gly177Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011221 p.Gly192Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011222 p.Gly204Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011223 p.Gly230Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011224 p.Gly239Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011225 p.Gly264Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011226 p.Gly292Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011227 p.Gly295Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011228 p.Gly298Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011229 p.Gly319Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011230 p.Gly412Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011231 p.Gly415Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011232 p.Gly420Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011233 p.Gly420Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011234 p.Gly423Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011235 p.Gly491Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011236 p.Gly497Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011237 p.Gly524Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011238 p.Gly558Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011239 p.Gly573Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011240 p.Gly579Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011241 p.Gly603Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011242 p.Gly609Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011243 p.Pro619Ser Polymorphism - - COL4A5 P29400 VAR_011244 p.Gly621Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011245 p.Gly624Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011246 p.Gly629Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011247 p.Gly632Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011248 p.Glu633Lys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011249 p.Gly681Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011250 p.Gly722Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011251 p.Pro739Ala Polymorphism - - COL4A5 P29400 VAR_011252 p.Pro739Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011253 p.Gly802Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011255 p.Gly811Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011256 p.Gly822Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011258 p.Met898Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011259 p.Gly902Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011260 p.Gly911Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011261 p.Gly941Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011262 p.Gly947Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011263 p.Gly953Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011264 p.Gly1006Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011265 p.Gly1006Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011266 p.Gly1015Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011267 p.Gly1015Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011268 p.Gly1030Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011269 p.Gly1036Val Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011270 p.Gly1039Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011271 p.Gly1045Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011272 p.Gly1066Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011273 p.Gly1066Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011274 p.Gly1086Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011275 p.Gly1158Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011276 p.Gly1167Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011277 p.Gly1170Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011278 p.Gly1196Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011279 p.Gly1205Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011280 p.Gly1211Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011281 p.Gly1229Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011282 p.Gly1244Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011283 p.Gly1252Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011284 p.Gly1261Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011285 p.Gly1357Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011286 p.Leu1428Met Polymorphism - - COL4A5 P29400 VAR_011287 p.Ser1488Phe Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011288 p.Arg1511His Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011289 p.Cys1567Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011290 p.Arg1677Pro Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A5 P29400 VAR_011291 p.Cys1678Trp Disease - Alport syndrome X-linked (APSX) [MIM:301050] COL4A6 Q14031 VAR_015216 p.Ser455Ala Polymorphism rs1042065 - COL4A6 Q14031 VAR_015217 p.Asn1110Lys Polymorphism rs1042067 - COL4A6 Q14031 VAR_032972 p.Pro1126Ser Polymorphism rs35179844 - COL4A6 Q14031 VAR_032973 p.Ile1162Val Polymorphism rs34466065 - COL4A6 Q14031 VAR_032974 p.Leu1362Pro Polymorphism rs35363062 - COL4A6 Q14031 VAR_035748 p.Gly1130Glu Unclassified - A colorectal cancer sample COL4A6 Q14031 VAR_059242 p.Ser455Pro Polymorphism rs1042065 - COL5A1 P20908 VAR_001808 p.Cys1639Ser Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] COL5A1 P20908 VAR_015412 p.Gly530Ser Disease rs61735045 Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] COL5A1 P20908 VAR_015412 p.Gly530Ser Disease rs61735045 Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] COL5A1 P20908 VAR_015413 p.Gly1489Asp Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] COL5A1 P20908 VAR_057902 p.Leu25Pro Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] COL5A1 P20908 VAR_057902 p.Leu25Pro Disease - Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] COL5A1 P20908 VAR_057903 p.Leu25Arg Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] COL5A1 P20908 VAR_057903 p.Leu25Arg Disease - Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] COL5A1 P20908 VAR_057904 p.Ala114Asp Unclassified - - COL5A1 P20908 VAR_057905 p.Asp192Asn Unclassified - - COL5A1 P20908 VAR_057906 p.Asp229Asn Unclassified - - COL5A1 P20908 VAR_057907 p.Pro393Ser Unclassified - - COL5A1 P20908 VAR_057908 p.Asn951Ser Polymorphism rs61736966 - COL5A1 P20908 VAR_057909 p.Gly1486Cys Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] COL5A1 P20908 VAR_057909 p.Gly1486Cys Disease - Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] COL5A1 P20908 VAR_064702 p.Pro908Leu Unclassified - - COL5A2 P05997 VAR_013588 p.Gly963Arg Disease - Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] COL5A2 P05997 VAR_048799 p.Pro460Ser Polymorphism rs35830636 - COL5A2 P05997 VAR_048800 p.Arg956Pro Polymorphism rs6434313 - COL5A2 P05997 VAR_057910 p.Val512Ala Polymorphism rs35852101 - COL5A2 P05997 VAR_057911 p.Pro833Leu Polymorphism - - COL5A2 P05997 VAR_057912 p.Thr1230Ser Polymorphism - - COL5A2 P05997 VAR_057913 p.Asp1432Val Polymorphism - - COL5A3 P25940 VAR_020015 p.Arg134His Polymorphism rs2303098 - COL5A3 P25940 VAR_020016 p.Arg1207Pro Polymorphism rs2287813 - COL5A3 P25940 VAR_020017 p.Val1428Met Polymorphism rs3815746 - COL5A3 P25940 VAR_020018 p.Ile1594Met Polymorphism rs3745581 - COL5A3 P25940 VAR_020019 p.Val1691Ile Polymorphism rs2277969 - COL5A3 P25940 VAR_055678 p.Arg1042Pro Polymorphism rs2161468 - COL5A3 P25940 VAR_055679 p.Ala1488Pro Polymorphism rs3745584 - COL5A3 P25940 VAR_060789 p.Arg322Gly Polymorphism rs2287803 - COL6A1 P12109 VAR_013580 p.Lys121Arg Disease - Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_013581 p.Gly305Val Disease - Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_013582 p.Gly341Asp Disease - Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_048763 p.Arg439Gln Polymorphism rs35059000 - COL6A1 P12109 VAR_048764 p.Arg850His Polymorphism rs1053312 - COL6A1 P12109 VAR_058213 p.Ser116Asn Disease rs11553519 Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_058214 p.Gly272Asp Disease - Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_058215 p.Pro274Leu Disease - Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_058216 p.Gly275Arg Disease - Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_058217 p.Gly281Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A1 P12109 VAR_058218 p.Gly284Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A1 P12109 VAR_058219 p.Gly290Arg Disease - Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_058219 p.Gly290Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A1 P12109 VAR_058220 p.Gly332Ser Polymorphism rs11701912 - COL6A1 P12109 VAR_058221 p.Gly341Val Disease - Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_058222 p.Lys571Thr Disease - Bethlem myopathy (BM) [MIM:158810] COL6A1 P12109 VAR_058223 p.Thr881Met Polymorphism - - COL6A1 P12109 VAR_058224 p.Ser890Leu Polymorphism rs13051496 - COL6A2 P12110 VAR_013589 p.Gly271Ser Disease - Bethlem myopathy (BM) [MIM:158810] COL6A2 P12110 VAR_013590 p.Asp621Asn Disease - Bethlem myopathy (BM) [MIM:158810] COL6A2 P12110 VAR_030315 p.Ser399Asn Polymorphism rs2839110 - COL6A2 P12110 VAR_030316 p.Arg680His Polymorphism rs1042917 - COL6A2 P12110 VAR_048801 p.Asp227Asn Polymorphism rs35881321 - COL6A2 P12110 VAR_048802 p.Gly935Arg Polymorphism rs35548026 - COL6A2 P12110 VAR_048803 p.Ile1015Leu Polymorphism rs11910483 - COL6A2 P12110 VAR_058225 p.Glu106Lys Disease - Bethlem myopathy (BM) [MIM:158810] COL6A2 P12110 VAR_058226 p.Gly283Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A2 P12110 VAR_058227 p.Arg489Gln Polymorphism - - COL6A2 P12110 VAR_058228 p.Arg498His Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A2 P12110 VAR_058229 p.Pro518Ser Polymorphism - - COL6A2 P12110 VAR_058230 p.Gly531Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A2 P12110 VAR_058231 p.Gly700Ser Disease - Bethlem myopathy (BM) [MIM:158810] COL6A2 P12110 VAR_058232 p.Arg724Cys Polymorphism - - COL6A2 P12110 VAR_058233 p.Cys777Arg Disease - Bethlem myopathy (BM) [MIM:158810] COL6A2 P12110 VAR_058234 p.Arg784His Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A2 P12110 VAR_058235 p.Val804Gly Polymorphism - - COL6A2 P12110 VAR_058236 p.Leu837Pro Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A2 P12110 VAR_058237 p.Arg853Gln Disease - Bethlem myopathy (BM) [MIM:158810] COL6A2 P12110 VAR_058238 p.Arg876Ser Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A2 P12110 VAR_058239 p.Ser895Arg Polymorphism - - COL6A2 P12110 VAR_058241 p.Pro932Leu Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_001910 p.Gly1679Glu Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_001911 p.Asp2831His Polymorphism rs36104025 - COL6A3 P12111 VAR_047279 p.Thr538Met Polymorphism rs34741387 - COL6A3 P12111 VAR_047280 p.Arg659His Polymorphism rs36092870 - COL6A3 P12111 VAR_047281 p.Val886Glu Polymorphism rs9630964 - COL6A3 P12111 VAR_047282 p.Lys1088Gln Polymorphism rs11896521 - COL6A3 P12111 VAR_047283 p.Pro2218Leu Polymorphism rs36117715 - COL6A3 P12111 VAR_047284 p.Asn2805Thr Polymorphism rs35848091 - COL6A3 P12111 VAR_047285 p.Met2927Thr Polymorphism rs6728818 - COL6A3 P12111 VAR_047286 p.Met2988Val Polymorphism rs11690358 - COL6A3 P12111 VAR_047287 p.Ala3012Pro Polymorphism rs2270669 - COL6A3 P12111 VAR_047288 p.Thr3069Ile Polymorphism rs1131296 - COL6A3 P12111 VAR_058242 p.Leu411Val Polymorphism - - COL6A3 P12111 VAR_058243 p.Asp491His Polymorphism - - COL6A3 P12111 VAR_058244 p.Thr492Ser Polymorphism - - COL6A3 P12111 VAR_058245 p.Arg677His Disease rs35227432 Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_058246 p.Ala807Thr Polymorphism - - COL6A3 P12111 VAR_058247 p.Ala830Ser Polymorphism - - COL6A3 P12111 VAR_058248 p.Lys1014Glu Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_058249 p.Arg1064Gln Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A3 P12111 VAR_058250 p.Glu1386Lys Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_058251 p.Arg1395Gln Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A3 P12111 VAR_058252 p.Asn1467Asp Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_058253 p.Arg1576Gln Polymorphism - - COL6A3 P12111 VAR_058254 p.Arg1632Gln Polymorphism - - COL6A3 P12111 VAR_058255 p.Asp1674Asn Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] COL6A3 P12111 VAR_058256 p.Pro1687Ser Polymorphism rs35273032 - COL6A3 P12111 VAR_058257 p.Leu1726Arg Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_058258 p.Val1985Met Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_058259 p.Gly2047Asp Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_058260 p.Gly2056Arg Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_058261 p.Gly2080Asp Disease - Bethlem myopathy (BM) [MIM:158810] COL6A3 P12111 VAR_058262 p.Asp2431Val Polymorphism - - COL6A3 P12111 VAR_058263 p.Glu2453Lys Polymorphism - - COL6A3 P12111 VAR_058264 p.Ala2941Val Disease rs11903206 Bethlem myopathy (BM) [MIM:158810] COL6A5 A8TX70 VAR_043607 p.Gln2188Arg Polymorphism rs9883988 - COL6A5 A8TX70 VAR_043608 p.Gly2205Asp Polymorphism rs819085 - COL6A5 A8TX70 VAR_059234 p.Glu455Lys Polymorphism rs1453241 - COL6A5 A8TX70 VAR_059235 p.Asn641His Polymorphism rs9882852 - COL6A5 A8TX70 VAR_059236 p.His805Arg Polymorphism rs16827168 - COL6A5 A8TX70 VAR_059237 p.Asp982Gly Polymorphism rs11917356 - COL6A5 A8TX70 VAR_059238 p.Ile1114Met Polymorphism rs1353613 - COL6A5 A8TX70 VAR_059239 p.Thr1280Pro Polymorphism rs12488457 - COL6A5 A8TX70 VAR_059240 p.Cys1477Ser Polymorphism rs1497312 - COL6A5 A8TX70 VAR_059241 p.Ser1589Pro Polymorphism rs16827497 - COL6A5 A8TX70 VAR_061119 p.Asp2175Asn Polymorphism rs60021408 - COL6A6 A6NMZ7 VAR_043609 p.Glu345Lys Polymorphism rs4613427 - COL6A6 A6NMZ7 VAR_043610 p.Ala370Thr Polymorphism rs9830253 - COL6A6 A6NMZ7 VAR_043611 p.Glu461Ala Polymorphism rs11921769 - COL6A6 A6NMZ7 VAR_043612 p.Arg1739Gln Polymorphism rs16830494 - COL6A6 A6NMZ7 VAR_043613 p.His1799Arg Polymorphism rs7614116 - COL6A6 A6NMZ7 VAR_061120 p.Pro556Ser Polymorphism rs59021909 - COL7A1 Q02388 VAR_001809 p.Lys142Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001810 p.Pro595Leu Disease rs2228561 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001811 p.Pro1277Leu Disease rs35761247 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001812 p.Gly1557Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001813 p.Gly1782Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001814 p.Gly1982Trp Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] COL7A1 Q02388 VAR_001815 p.Gly2003Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001816 p.Arg2008Gly Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] COL7A1 Q02388 VAR_001817 p.Gly2025Ala Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001818 p.Gly2034Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001818 p.Gly2034Arg Disease - Epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) [MIM:131750] COL7A1 Q02388 VAR_001819 p.Gly2040Ser Disease - Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750] COL7A1 Q02388 VAR_001820 p.Gly2043Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001821 p.Gly2049Glu Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] COL7A1 Q02388 VAR_001822 p.Gly2055Glu Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001823 p.Arg2063Trp Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] COL7A1 Q02388 VAR_001825 p.Gly2073Asp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001826 p.Gly2076Asp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001827 p.Gly2079Glu Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_001828 p.Gly2242Arg Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_001829 p.Gly2351Arg Polymorphism rs1800013 - COL7A1 Q02388 VAR_001830 p.Gly2569Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001831 p.Gly2575Arg Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] COL7A1 Q02388 VAR_001832 p.Gly2623Cys Disease - Epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850] COL7A1 Q02388 VAR_001833 p.Gly2653Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001834 p.Gly2671Val Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001835 p.Gly2674Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_001836 p.Gly2749Arg Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] COL7A1 Q02388 VAR_001837 p.Met2798Lys Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] COL7A1 Q02388 VAR_011160 p.Gly1347Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011161 p.Gly1519Asp Disease - Transient bullous dermolysis of the newborn (TBDN) [MIM:131705] COL7A1 Q02388 VAR_011162 p.Gly1522Glu Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011163 p.Gly1604Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011164 p.Gly1652Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011165 p.Gly1703Glu Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011166 p.Arg1772Trp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011167 p.Gly1776Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011168 p.Gly1791Glu Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_011169 p.Gly1812Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011170 p.Gly2006Ala Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011171 p.Gly2006Asp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011172 p.Arg2008Cys Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] COL7A1 Q02388 VAR_011173 p.Gly2009Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011174 p.Gly2015Glu Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011175 p.Gly2028Ala Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011176 p.Gly2028Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011176 p.Gly2028Arg Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_011177 p.Gly2031Ser Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011178 p.Gly2034Trp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011179 p.Gly2037Glu Disease - Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750] COL7A1 Q02388 VAR_011180 p.Gly2040Asp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011181 p.Gly2040Val Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011182 p.Gly2043Trp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011183 p.Gly2046Val Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011184 p.Gly2064Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011185 p.Gly2079Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011186 p.Gly2132Asp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011187 p.Gly2192Ser Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011188 p.Gly2207Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011189 p.Gly2251Glu Disease - Transient bullous dermolysis of the newborn (TBDN) [MIM:131705] COL7A1 Q02388 VAR_011190 p.Gly2263Val Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011191 p.Gly2287Arg Polymorphism - - COL7A1 Q02388 VAR_011192 p.Gly2316Arg Unclassified - - COL7A1 Q02388 VAR_011193 p.Gly2348Arg Unclassified - - COL7A1 Q02388 VAR_011194 p.Gly2366Ser Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011195 p.Gly2369Ser Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_011196 p.Gly2674Asp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011197 p.Gly2713Asp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_011198 p.Gly2713Arg Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] COL7A1 Q02388 VAR_011199 p.Gly2740Ala Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011200 p.Gly2775Ser Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_011201 p.Arg2791Trp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_015519 p.Gly1595Arg Disease - Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523] COL7A1 Q02388 VAR_015520 p.Gly1815Arg Disease - Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523] COL7A1 Q02388 VAR_033786 p.Pro2429Leu Polymorphism rs2229822 - COL7A1 Q02388 VAR_035740 p.Thr119Pro Unclassified - A breast cancer sample COL7A1 Q02388 VAR_035741 p.Pro1364Thr Unclassified - A breast cancer sample COL7A1 Q02388 VAR_035742 p.Arg1366Trp Unclassified - A breast cancer sample COL7A1 Q02388 VAR_048765 p.Val547Phe Polymorphism rs2229823 - COL7A1 Q02388 VAR_048766 p.Arg1120Lys Polymorphism rs2228563 - COL7A1 Q02388 VAR_064994 p.Gly1845Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_064995 p.Lys1981Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_064996 p.Arg2069Cys Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_064997 p.Gly2070Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] COL7A1 Q02388 VAR_064998 p.Gly2221Ala Unclassified - - COL7A1 Q02388 VAR_064999 p.Gly2296Glu Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_065000 p.Gly2557Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL7A1 Q02388 VAR_065001 p.Arg2622Trp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] COL8A2 P25067 VAR_017893 p.Gly3Arg Polymorphism - - COL8A2 P25067 VAR_017894 p.Arg155Gln Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017895 p.Arg304Gln Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017896 p.Gly357Arg Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017897 p.Arg434His Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017898 p.Gln455Lys Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017898 p.Gln455Lys Disease - Posterior polymorphous corneal dystrophy type 2 (PPCD2) [MIM:609140] COL8A2 P25067 VAR_017899 p.Pro575Leu Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] COL8A2 P25067 VAR_017900 p.Thr645Ile Polymorphism - - COL8A2 P25067 VAR_021387 p.Thr502Met Polymorphism - - COL9A1 P20849 VAR_023326 p.Arg870Lys Polymorphism rs1056921 - COL9A1 P20849 VAR_023327 p.Val882Leu Polymorphism rs1056923 - COL9A1 P20849 VAR_026463 p.Ser339Pro Polymorphism rs592121 - COL9A1 P20849 VAR_026464 p.Gln621Arg Polymorphism rs1135056 - COL9A1 P20849 VAR_055668 p.Glu684Lys Polymorphism rs35470562 - COL9A1 P20849 VAR_055669 p.Met767Val Polymorphism rs6910140 - COL9A2 Q14055 VAR_012658 p.Gln326Trp Disease - Intervertebral disc disease (IDD) [MIM:603932] COL9A2 Q14055 VAR_012659 p.Gln326Arg Polymorphism rs2228564 - COL9A2 Q14055 VAR_020014 p.Val581Ile Polymorphism rs3737821 - COL9A2 Q14055 VAR_026465 p.Thr246Met Polymorphism rs2228565 - COL9A2 Q14055 VAR_026466 p.Leu335Val Polymorphism rs2228567 - COL9A3 Q14050 VAR_026467 p.Arg103Gln Polymorphism - - COL9A3 Q14050 VAR_026468 p.Arg103Trp Unclassified - - COL9A3 Q14050 VAR_026469 p.Pro296Leu Polymorphism rs45628843 - COL9A3 Q14050 VAR_026470 p.Arg402Gln Polymorphism - - COL9A3 Q14050 VAR_026471 p.Ala435Glu Polymorphism rs751557 - COL9A3 Q14050 VAR_048808 p.Pro94Ser Polymorphism rs35908728 - COLEC11 Q9BWP8 VAR_038143 p.His219Arg Polymorphism rs7567833 - COLEC12 Q5KU26 VAR_038853 p.Lys91Glu Polymorphism rs17855029 - COLEC12 Q5KU26 VAR_038854 p.Ile487Val Polymorphism rs8098850 - COLEC12 Q5KU26 VAR_038855 p.Ser522Pro Polymorphism rs2305025 - COLEC12 Q5KU26 VAR_038856 p.Gly606Ser Polymorphism rs2305027 - COLQ Q9Y215 VAR_010133 p.Pro59Gln Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034] COLQ Q9Y215 VAR_010134 p.Asp342Glu Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034] COLQ Q9Y215 VAR_010135 p.Arg410Gln Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034] COLQ Q9Y215 VAR_010136 p.Tyr430Ser Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034] COLQ Q9Y215 VAR_010137 p.Cys444Tyr Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034] COLQ Q9Y215 VAR_048809 p.Ser312Gly Polymorphism rs6782980 - COMMD10 Q9Y6G5 VAR_061122 p.Ile128Ser Polymorphism rs1129495 - COMMD2 Q86X83 VAR_028010 p.Ile113Leu Polymorphism rs9843784 - COMMD2 Q86X83 VAR_028011 p.Gln177His Polymorphism rs1546732 - COMMD3 Q9UBI1 VAR_061121 p.Arg18Gly Polymorphism rs11552445 - COMMD5 Q9GZQ3 VAR_020130 p.Ala6Thr Polymorphism rs1209879 - COMMD5 Q9GZQ3 VAR_048812 p.Gln69His Polymorphism rs421427 - COMMD6 Q7Z4G1 VAR_048813 p.His52Asn Polymorphism rs1063485 - COMMD8 Q9NX08 VAR_048814 p.Ala17Pro Polymorphism rs35444219 - COMP P49747 VAR_007614 p.Asp290Asn Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007615 p.Gly299Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007616 p.Cys328Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007617 p.Asp342Tyr Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_007618 p.Asp349Val Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007619 p.Asp361Val Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_007620 p.Asp361Tyr Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_007622 p.Cys371Ser Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_007625 p.Cys387Gly Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007627 p.Asp408Tyr Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_007628 p.Gly440Glu Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007629 p.Gly440Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007630 p.Asn453Ser Disease rs28936668 Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_007632 p.Cys468Tyr Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007634 p.Asp472Tyr Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007635 p.Asp473Gly Disease rs28936669 Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007637 p.Asp482Gly Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007639 p.Asp518Asn Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007640 p.Asn523Lys Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_007641 p.Thr585Met Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_007642 p.Thr585Arg Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_007642 p.Thr585Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_016254 p.Glu50Asp Polymorphism - - COMP P49747 VAR_016255 p.Leu51Trp Polymorphism - - COMP P49747 VAR_016257 p.Ala109Gly Polymorphism - - COMP P49747 VAR_016258 p.Arg224Gly Polymorphism - - COMP P49747 VAR_016261 p.Arg285Pro Polymorphism - - COMP P49747 VAR_017102 p.Cys348Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_017103 p.Gly719Asp Disease - Pseudoachondroplasia (PSACH) [MIM:177170] COMP P49747 VAR_026239 p.Pro276Arg Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_026240 p.Asp420Ala Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] COMP P49747 VAR_046796 p.Arg381Cys Polymorphism rs3179763 - COMT P21964 VAR_005139 p.Val158Met Polymorphism rs4680 - COMT P21964 VAR_013925 p.Cys34Ser Polymorphism rs6270 - COMT P21964 VAR_013926 p.Ala72Ser Polymorphism rs6267 - COMT P21964 VAR_020274 p.Ala102Thr Polymorphism rs5031015 - COMT P21964 VAR_020275 p.Ala146Val Polymorphism rs4986871 - COPA P53621 VAR_033803 p.Val1040Gly Polymorphism rs34997807 - COPE O14579 VAR_054032 p.Ser13Cys Polymorphism rs2231987 - COPE O14579 VAR_054033 p.Thr117Ile Polymorphism rs10330 - COPG1 Q9Y678 VAR_054039 p.Met681Thr Polymorphism rs15648 - COPG2 Q9UBF2 VAR_060181 p.Ile547Leu Polymorphism rs10128 - COPG2 Q9UBF2 VAR_060182 p.Pro626Leu Polymorphism rs17333054 - COPRS Q9NQ92 VAR_043538 p.Ser43Gly Polymorphism rs8068049 - COQ10A Q96MF6 VAR_025703 p.Pro79His Polymorphism rs11543258 - COQ10A Q96MF6 VAR_048828 p.Pro231Ser Polymorphism rs3184994 - COQ10B Q9H8M1 VAR_033823 p.Leu48Phe Polymorphism rs34946819 - COQ2 Q96H96 VAR_025701 p.Tyr247Cys Disease - Coenzyme Q10 deficiency, primary, type 1 (COQ10D1) [MIM:607426] COQ3 Q9NZJ6 VAR_020789 p.Ser272Gly Polymorphism rs6925344 - COQ3 Q9NZJ6 VAR_020790 p.Tyr329His Polymorphism rs4144164 - COQ3 Q9NZJ6 VAR_061925 p.Lys134Glu Polymorphism rs11548336 - COQ4 Q9Y3A0 VAR_048829 p.Arg20Gln Polymorphism rs9697215 - COQ4 Q9Y3A0 VAR_054861 p.Gly50Ala Polymorphism rs3003601 - COQ5 Q5HYK3 VAR_025702 p.Ala152Thr Polymorphism rs3742049 - COQ6 Q9Y2Z9 VAR_014953 p.Val406Met Polymorphism rs8500 - COQ6 Q9Y2Z9 VAR_033813 p.Asp339Val Polymorphism rs2074930 - COQ6 Q9Y2Z9 VAR_033814 p.Thr395Met Polymorphism rs34746680 - COQ6 Q9Y2Z9 VAR_052691 p.Asp300Tyr Polymorphism rs1044640 - COQ7 Q99807 VAR_055148 p.Thr103Met Polymorphism rs11074359 - CORIN Q9Y5Q5 VAR_038000 p.Cys13Tyr Polymorphism rs2289433 - CORIN Q9Y5Q5 VAR_038001 p.His525Arg Polymorphism rs11934749 - CORO1A P31146 VAR_011956 p.Arg415Lys Polymorphism rs1804109 - CORO1A P31146 VAR_011957 p.Thr443Pro Polymorphism rs1053574 - CORO1B Q9BR76 VAR_035877 p.Val411Met Unclassified - A colorectal cancer sample CORO1B Q9BR76 VAR_053389 p.Arg476Leu Polymorphism rs2286624 - CORO2A Q92828 VAR_053390 p.Arg296His Polymorphism rs2231666 - CORO2A Q92828 VAR_053391 p.Arg495Leu Polymorphism rs35787916 - CORO2B Q9UQ03 VAR_035878 p.Pro318Leu Unclassified - A colorectal cancer sample CORO2B Q9UQ03 VAR_058323 p.Leu238Val Polymorphism rs17852400 - CORO7 P57737 VAR_057585 p.Ala174Val Polymorphism rs17137007 - CORO7 P57737 VAR_057586 p.Arg193Gln Polymorphism rs3747579 - CORO7 P57737 VAR_057587 p.Leu257Ser Polymorphism rs35357594 - CORO7 P57737 VAR_057588 p.Ala403Thr Polymorphism rs9928967 - COX10 Q12887 VAR_026562 p.Thr196Lys Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] COX10 Q12887 VAR_026563 p.Asn204Lys Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] COX10 Q12887 VAR_026564 p.Pro225Leu Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] COX10 Q12887 VAR_026565 p.Asp336Gly Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] COX10 Q12887 VAR_026566 p.Asp336Val Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] COX10 Q12887 VAR_057371 p.Thr28Ile Polymorphism rs16948978 - COX10 Q12887 VAR_057372 p.Thr62Ser Polymorphism rs2230351 - COX10 Q12887 VAR_057373 p.Tyr97Cys Polymorphism rs16948986 - COX10 Q12887 VAR_060233 p.Arg159Gln Polymorphism rs8077302 - COX10 Q12887 VAR_060234 p.Gly340Asp Polymorphism rs1050214 - COX10 Q12887 VAR_064768 p.Leu258His Polymorphism - - COX11 Q9Y6N1 VAR_048831 p.Pro74Leu Polymorphism rs34080917 - COX15 Q7KZN9 VAR_019596 p.Arg217Trp Disease rs28939711 Leigh syndrome (LS) [MIM:256000] COX15 Q7KZN9 VAR_019596 p.Arg217Trp Disease rs28939711 Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] COX15 Q7KZN9 VAR_033117 p.Ser344Pro Disease - Leigh syndrome (LS) [MIM:256000] COX4I1 P13073 VAR_002170 p.Tyr38Phe Polymorphism - - COX4I1 P13073 VAR_061127 p.Ala3Thr Polymorphism rs11557187 - COX4I2 Q96KJ9 VAR_033815 p.Arg161His Polymorphism rs11907253 - COX4I2 Q96KJ9 VAR_058101 p.Glu138Lys Disease - Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714] COX6B1 P14854 VAR_046775 p.Arg20His Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] COX7A2 P14406 VAR_012319 p.Glu40Asp Polymorphism - - COX7B2 Q8TF08 VAR_026231 p.His27Gln Polymorphism - - CPA1 P15085 VAR_048593 p.Ala208Thr Polymorphism rs34474469 - CPA1 P15085 VAR_054311 p.His276Arg Polymorphism rs17849959 - CPA2 P48052 VAR_031204 p.Glu82Gly Polymorphism rs17850135 - CPA3 P15088 VAR_033725 p.Thr171Met Polymorphism rs12489516 - CPA3 P15088 VAR_048602 p.Ala81Ser Polymorphism rs2270523 - CPA4 Q9UI42 VAR_020393 p.Pro157Thr Polymorphism rs3735051 - CPA4 Q9UI42 VAR_020394 p.Gly303Cys Polymorphism rs2171492 - CPA4 Q9UI42 VAR_048594 p.Leu27Phe Polymorphism rs34587586 - CPA4 Q9UI42 VAR_048595 p.Arg183Leu Polymorphism rs3735053 - CPA5 Q8WXQ8 VAR_017191 p.Pro79Ser Polymorphism rs17388190 - CPA5 Q8WXQ8 VAR_017192 p.Leu336Ser Polymorphism rs11761888 - CPA5 Q8WXQ8 VAR_017193 p.Glu338Asp Polymorphism - - CPA5 Q8WXQ8 VAR_048596 p.Ser378Gly Polymorphism rs11765961 - CPA6 Q8N4T0 VAR_024241 p.Phe45Leu Polymorphism rs10957393 - CPA6 Q8N4T0 VAR_025003 p.Ser173Cys Polymorphism rs17853192 - CPA6 Q8N4T0 VAR_048597 p.Asn249Ser Polymorphism rs17343819 - CPAMD8 Q8IZJ3 VAR_038655 p.Arg251Trp Polymorphism rs10426545 - CPAMD8 Q8IZJ3 VAR_038656 p.Met265Thr Polymorphism rs4808551 - CPAMD8 Q8IZJ3 VAR_038657 p.Arg294Gln Polymorphism rs3745340 - CPAMD8 Q8IZJ3 VAR_038658 p.Asp539Glu Polymorphism rs3745335 - CPAMD8 Q8IZJ3 VAR_038659 p.His546Arg Polymorphism rs1824152 - CPAMD8 Q8IZJ3 VAR_038660 p.Pro736His Polymorphism rs9305083 - CPAMD8 Q8IZJ3 VAR_038661 p.Val1156Ile Polymorphism rs2250918 - CPAMD8 Q8IZJ3 VAR_038662 p.Thr1268Ile Polymorphism rs706761 - CPAMD8 Q8IZJ3 VAR_038663 p.Gln1843Arg Polymorphism rs1054533 - CPB1 P15086 VAR_048598 p.Asp208Asn Polymorphism rs1059502 - CPB2 Q96IY4 VAR_022258 p.Ile347Thr Polymorphism rs1926447 - CPB2 Q96IY4 VAR_032565 p.Ala169Thr Polymorphism rs3742264 - CPD O75976 VAR_027771 p.Lys36Glu Polymorphism rs17857300 - CPD O75976 VAR_027772 p.Glu454Gly Polymorphism rs17857301 - CPD O75976 VAR_027773 p.His505Asn Polymorphism rs17854355 - CPD O75976 VAR_027774 p.Thr899Ile Polymorphism rs1860543 - CPEB3 Q8NE35 VAR_029776 p.Arg324Trp Polymorphism rs17853616 - CPED1 A4D0V7 VAR_038664 p.Ile326Thr Polymorphism rs17143165 - CPED1 A4D0V7 VAR_038665 p.Ala551Gly Polymorphism rs41281692 - CPED1 A4D0V7 VAR_038666 p.Glu708Gly Polymorphism rs35793694 - CPED1 A4D0V7 VAR_038667 p.Lys949Thr Polymorphism rs798911 - CPE P16870 VAR_036011 p.Arg297Gln Unclassified - A colorectal cancer sample CPE P16870 VAR_048599 p.Trp235Arg Polymorphism rs34516004 - CPM P14384 VAR_048600 p.Arg24His Polymorphism rs7978197 - CPM P14384 VAR_048601 p.Val133Ile Polymorphism rs7309831 - CPN1 P15169 VAR_042415 p.Gly178Asp Disease - Carboxypeptidase N deficiency (CPND) [MIM:212070] CPN2 P22792 VAR_019721 p.Val536Met Polymorphism rs11711157 - CPN2 P22792 VAR_019722 p.Ala305Thr Polymorphism rs3732477 - CPN2 P22792 VAR_065186 p.Gln509Arg Polymorphism rs4974538 - CPNE1 Q99829 VAR_024423 p.Gln211Arg Polymorphism rs6579255 - CPNE1 Q99829 VAR_048846 p.Pro347Arg Polymorphism rs12481228 - CPNE1 Q99829 VAR_048847 p.Pro535Leu Polymorphism rs11543239 - CPNE3 O75131 VAR_024424 p.Thr412Met Polymorphism rs2304789 - CPNE3 O75131 VAR_048848 p.Glu252Asp Polymorphism rs41333046 - CPNE5 Q9HCH3 VAR_020358 p.Asn33Ser Polymorphism rs3734334 - CPNE5 Q9HCH3 VAR_021954 p.Arg582His Polymorphism rs3830138 - CPNE7 Q9UBL6 VAR_021955 p.Phe77Leu Polymorphism rs455527 - CPNE7 Q9UBL6 VAR_021956 p.Pro633Leu Polymorphism rs3751682 - CPNE7 Q9UBL6 VAR_033822 p.Arg397Gln Polymorphism rs28568523 - CPNE7 Q9UBL6 VAR_048849 p.Lys507Glu Polymorphism rs35731090 - CPO Q8IVL8 VAR_027850 p.Met85Ile Polymorphism rs13420911 - CPO Q8IVL8 VAR_027851 p.Ser134Arg Polymorphism rs11903403 - CPO Q8IVL8 VAR_036012 p.Lys273Asn Unclassified - A colorectal cancer sample CPOX P36551 VAR_002152 p.Gly189Ser Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002153 p.Gly197Trp Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002154 p.Glu201Lys Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002155 p.Pro249Ser Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002156 p.Asn272His Polymorphism rs1131857 - CPOX P36551 VAR_002157 p.Gly280Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002158 p.Val294Ile Polymorphism rs2228056 - CPOX P36551 VAR_002159 p.His295Asp Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002160 p.Arg331Trp Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002162 p.Lys404Glu Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_002163 p.Trp427Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_019067 p.Ser208Phe Disease rs28929486 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_019068 p.Arg328Cys Disease rs28929487 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_019069 p.Arg447Cys Disease rs28931603 Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_023444 p.Val135Ala Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_023445 p.Leu214Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_023446 p.Pro249Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300] CPOX P36551 VAR_048827 p.Arg352Cys Polymorphism rs11921054 - CPOX P36551 VAR_058005 p.Gly279Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300] CP P00450 VAR_025655 p.Ile63Thr Unclassified - - CP P00450 VAR_025656 p.Pro477Leu Polymorphism rs35331711 - CP P00450 VAR_025657 p.Asp544Glu Polymorphism rs701753 - CP P00450 VAR_025658 p.Thr551Ile Polymorphism - - CP P00450 VAR_025659 p.Arg793His Polymorphism - - CP P00450 VAR_025660 p.Thr841Arg Polymorphism rs56033670 - CP P00450 VAR_032815 p.Arg367Cys Polymorphism rs34624984 - CPPED1 Q9BRF8 VAR_039204 p.Ala19Asp Polymorphism rs3748976 - CPPED1 Q9BRF8 VAR_039205 p.Val86Ile Polymorphism rs3748980 - CPPED1 Q9BRF8 VAR_039206 p.Lys241Arg Polymorphism rs1713480 - CPPED1 Q9BRF8 VAR_039207 p.His290Pro Polymorphism rs11645068 - CPQ Q9Y646 VAR_037466 p.Ser138Asn Polymorphism rs34088584 - CPS1 P31327 VAR_006834 p.Thr344Ala Polymorphism rs1047883 - CPS1 P31327 VAR_006835 p.Thr544Met Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_014077 p.His337Arg Disease rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_017562 p.Val457Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_017563 p.Gln810Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_017564 p.Leu843Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_017565 p.Lys875Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_017566 p.Phe1266Ser Polymorphism rs1047886 - CPS1 P31327 VAR_017567 p.Met1283Leu Polymorphism rs1047887 - CPS1 P31327 VAR_017568 p.Gly1376Ser Polymorphism - - CPS1 P31327 VAR_017569 p.Thr1406Asn Polymorphism rs1047891 - CPS1 P31327 VAR_030675 p.Arg850His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_030676 p.Ser918Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_061752 p.Thr344Ser Polymorphism rs1047883 - CPS1 P31327 VAR_063560 p.Gly79Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063561 p.Tyr212Asn Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063562 p.Lys280Asn Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063563 p.Ala438Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063564 p.Arg587His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063565 p.Gly593Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063566 p.Glu651Lys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063567 p.Asn674Ile Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063568 p.Arg780His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063569 p.Arg850Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063570 p.Gly982Asp Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063571 p.Gln1103Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063572 p.Val1141Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063573 p.His1195Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063574 p.Ile1215Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_063575 p.Asn1241Lys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064062 p.Ser123Phe Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064063 p.Thr471Asn Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064064 p.Gln678Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064065 p.Pro774Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064066 p.Pro1411Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064067 p.Arg1453Gln Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064068 p.Arg1453Trp Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPS1 P31327 VAR_064069 p.Tyr1491His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] CPSF3 Q9UKF6 VAR_035873 p.Asp578Asn Unclassified - A breast cancer sample CPSF3 Q9UKF6 VAR_037646 p.Glu142Gly Polymorphism rs17850770 - CPT1A P50416 VAR_020546 p.Arg123Cys Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020547 p.Ala275Thr Polymorphism rs2229738 - CPT1A P50416 VAR_020548 p.Cys304Trp Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020549 p.Thr314Ile Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020550 p.Arg357Trp Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020551 p.Glu360Gly Disease rs28936372 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020553 p.Ala414Val Disease rs28936373 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020554 p.Asp454Gly Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020555 p.Pro479Leu Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020556 p.Leu484Pro Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020557 p.Tyr498Cys Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020558 p.Gly709Glu Disease rs28936374 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_020559 p.Gly710Glu Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_046767 p.Arg316Gly Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_046768 p.Phe343Val Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1A P50416 VAR_046769 p.Gly465Trp Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] CPT1B Q92523 VAR_011739 p.Glu531Lys Polymorphism rs470117 - CPT1B Q92523 VAR_011740 p.Ser664Tyr Polymorphism rs1804702 - CPT1B Q92523 VAR_020029 p.Ile66Val Polymorphism rs3213445 - CPT1B Q92523 VAR_021854 p.Gly320Asp Polymorphism rs2269383 - CPT1B Q92523 VAR_024188 p.Ser427Cys Polymorphism rs8142477 - CPT2 P23786 VAR_001391 p.Pro50His Disease rs28936674 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_001392 p.Ser113Leu Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_001393 p.Glu174Lys Disease rs28936674 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_001394 p.Phe352Cys Polymorphism rs2229291 - CPT2 P23786 VAR_001395 p.Val368Ile Polymorphism rs1799821 - CPT2 P23786 VAR_001396 p.Phe383Tyr Disease rs28936673 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_001397 p.Asp553Asn Disease rs28936376 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_001398 p.Tyr628Ser Disease rs28936673 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_001399 p.Arg631Cys Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_001400 p.Met647Val Polymorphism rs1799822 - CPT2 P23786 VAR_007966 p.Met214Thr Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_007967 p.Pro227Leu Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_007968 p.Phe448Leu Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_007969 p.Tyr479Phe Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_007970 p.Arg503Cys Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_007971 p.Gly549Asp Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_011741 p.Ser588Cys Polymorphism rs1871748 - CPT2 P23786 VAR_020540 p.Arg151Gln Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_020541 p.Tyr210Asp Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_020542 p.Arg296Gln Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_020543 p.Gln550Arg Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_020544 p.Gly600Arg Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_020545 p.Pro604Ser Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPT2 P23786 VAR_037976 p.Asp213Gly Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] CPVL Q9H3G5 VAR_022612 p.Ala435Val Polymorphism rs7313 - CPVL Q9H3G5 VAR_048681 p.Ser11Leu Polymorphism rs36074676 - CPVL Q9H3G5 VAR_048682 p.Arg25His Polymorphism rs34219043 - CPVL Q9H3G5 VAR_048683 p.Arg398His Polymorphism rs1052200 - CPXCR1 Q8N123 VAR_035218 p.Tyr3Ser Polymorphism rs5940915 - CPXCR1 Q8N123 VAR_035219 p.Arg131His Polymorphism rs5984611 - CPXM2 Q8N436 VAR_048603 p.Gln750Arg Polymorphism rs7088479 - CPZ Q66K79 VAR_027883 p.Leu5Pro Polymorphism rs2302583 - CPZ Q66K79 VAR_027884 p.Thr501Met Polymorphism rs9991535 - CPZ Q66K79 VAR_047244 p.Pro6Leu Polymorphism rs34964084 - CPZ Q66K79 VAR_047245 p.Gln130Leu Polymorphism rs35993494 - CPZ Q66K79 VAR_047246 p.Ile486Thr Polymorphism rs7378066 - CR1L Q2VPA4 VAR_038677 p.Arg116Gly Polymorphism rs2296158 - CR1L Q2VPA4 VAR_038678 p.Ile139Val Polymorphism rs3085 - CR1L Q2VPA4 VAR_038679 p.Asn402Asp Polymorphism rs12729569 - CR1L Q2VPA4 VAR_038680 p.Ile455Val Polymorphism rs6683902 - CR1L Q2VPA4 VAR_038681 p.Leu491Pro Polymorphism rs2796257 - CR1 P17927 VAR_013819 p.His1208Arg Polymorphism rs2274567 - CR1 P17927 VAR_013820 p.Thr1408Ile Polymorphism - - CR1 P17927 VAR_013821 p.Lys1590Glu Polymorphism rs17047660 - CR1 P17927 VAR_013822 p.Arg1601Gly Polymorphism rs17047661 - CR1 P17927 VAR_013823 p.Ser1610Thr Polymorphism rs4844609 - CR1 P17927 VAR_013824 p.Ile1615Val Polymorphism rs6691117 - CR1 P17927 VAR_013825 p.Pro1827Arg Polymorphism rs3811381 - CR1 P17927 VAR_013826 p.His1850Asp Polymorphism - - CR1 P17927 VAR_020263 p.Thr1408Met Polymorphism rs3737002 - CR1 P17927 VAR_055685 p.Asn1540Ser Polymorphism rs17259045 - CR1 P17927 VAR_055686 p.Thr1969Ala Polymorphism rs2296160 - CR2 P20023 VAR_016164 p.Ser639Asn Polymorphism rs17615 - CR2 P20023 VAR_016165 p.Ile993Val Polymorphism rs17258982 - CR2 P20023 VAR_016166 p.Ala1003Glu Polymorphism rs6540433 - CRAT P43155 VAR_047780 p.Leu372Met Polymorphism rs3118635 - CRAT P43155 VAR_047781 p.Ala624Pro Polymorphism rs17459086 - CRB1 P82279 VAR_011641 p.Ala161Val Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011642 p.Cys250Trp Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011643 p.Thr745Met Disease rs28939720 Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_011643 p.Thr745Met Disease rs28939720 Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011644 p.Arg764Cys Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_011644 p.Arg764Cys Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011645 p.Cys948Tyr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_011645 p.Cys948Tyr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011646 p.Met1041Thr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011647 p.Leu1071Pro Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_011648 p.Ile1100Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_011649 p.Cys1181Arg Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022941 p.Phe144Val Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022942 p.Val162Met Disease - Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870] CRB1 P82279 VAR_022943 p.Cys195Phe Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022944 p.Ile205Thr Unclassified - - CRB1 P82279 VAR_022945 p.Thr289Met Unclassified - - CRB1 P82279 VAR_022946 p.Cys383Tyr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022947 p.Tyr433Cys Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022948 p.Cys480Gly Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022949 p.Cys480Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022950 p.Val578Glu Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022951 p.Asp584Tyr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022952 p.Cys587Tyr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022953 p.Gln679Glu Polymorphism - - CRB1 P82279 VAR_022954 p.Cys681Tyr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022955 p.Glu710Gln Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022956 p.Met741Thr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022958 p.Arg769His Polymorphism - - CRB1 P82279 VAR_022959 p.Arg769Gln Polymorphism - - CRB1 P82279 VAR_022960 p.Pro836Thr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022961 p.Asp837His Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022962 p.Gly846Arg Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022963 p.Gly850Ser Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022963 p.Gly850Ser Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022964 p.Ile852Thr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022965 p.Cys891Gly Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022966 p.Asn894Ser Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022967 p.Arg905Gln Polymorphism - - CRB1 P82279 VAR_022968 p.Gly959Ser Unclassified - - CRB1 P82279 VAR_022970 p.Asn986Ile Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022971 p.Ile989Thr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022972 p.Ser1025Ile Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022973 p.Ile1100Thr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022974 p.Gly1103Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022974 p.Gly1103Arg Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_022975 p.Leu1107Pro Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022976 p.Leu1107Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022977 p.Gly1205Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022978 p.Cys1218Phe Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022979 p.Asn1317His Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022980 p.Cys1321Ser Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835] CRB1 P82279 VAR_022981 p.Arg1331His Polymorphism - - CRB1 P82279 VAR_022982 p.Ala1354Thr Polymorphism - - CRB1 P82279 VAR_022983 p.Arg1383His Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_064180 p.Cys27Phe Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB1 P82279 VAR_064181 p.Cys1165Trp Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105] CRB2 Q5IJ48 VAR_022984 p.Pro46Leu Polymorphism - - CRB2 Q5IJ48 VAR_022985 p.Val97Leu Polymorphism - - CRB2 Q5IJ48 VAR_022986 p.Pro116Leu Polymorphism - - CRB2 Q5IJ48 VAR_022987 p.Met145Thr Polymorphism rs1105223 - CRB2 Q5IJ48 VAR_022988 p.Gly159Ala Polymorphism rs1105222 - CRB2 Q5IJ48 VAR_022989 p.Glu187Asp Polymorphism - - CRB2 Q5IJ48 VAR_022990 p.Ala351Thr Polymorphism - - CRB2 Q5IJ48 VAR_022991 p.Arg534Gln Polymorphism - - CRB2 Q5IJ48 VAR_022992 p.Arg610Trp Polymorphism - - CRB2 Q5IJ48 VAR_022993 p.His746Gln Polymorphism - - CRB2 Q5IJ48 VAR_022994 p.Thr1110Met Polymorphism - - CRB2 Q5IJ48 VAR_048974 p.Thr90Asn Polymorphism rs2808415 - CRB2 Q5IJ48 VAR_061153 p.Val709Ala Polymorphism rs2488602 - CRCT1 Q9UGL9 VAR_050906 p.Cys96Tyr Polymorphism rs16834168 - CREB3L1 Q96BA8 VAR_032392 p.Ala411Thr Polymorphism rs35652107 - CREB3L2 Q70SY1 VAR_062386 p.Val130Ile Polymorphism rs273957 - CREB3L4 Q8TEY5 VAR_048444 p.Pro95Ser Polymorphism rs11264743 - CREBBP Q92793 VAR_015578 p.Arg1378Pro Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_027953 p.Val1414Ile Polymorphism rs130015 - CREBBP Q92793 VAR_035080 p.Glu1278Lys Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_035081 p.Thr1447Ile Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_035082 p.Tyr1450His Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_035083 p.His1470Arg Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_035084 p.Arg1664His Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] CREBBP Q92793 VAR_037305 p.Tyr1175Cys Disease rs28937315 Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] CREBRF Q8IUR6 VAR_034795 p.Thr483Ala Polymorphism rs17854147 - CREG2 Q8IUH2 VAR_021252 p.Pro96Gln Polymorphism rs11554173 - CRELD1 Q96HD1 VAR_023764 p.Arg107His Polymorphism rs28941780 - CRELD1 Q96HD1 VAR_023765 p.Pro162Ala Unclassified - - CRELD1 Q96HD1 VAR_023766 p.Thr311Ile Polymorphism rs28942092 - CRELD1 Q96HD1 VAR_023767 p.Arg329Cys Polymorphism rs28942091 - CRELD1 Q96HD1 VAR_046653 p.Met13Val Polymorphism rs279552 - CRELD1 Q96HD1 VAR_046654 p.Pro128Arg Polymorphism rs2302787 - CRELD2 Q6UXH1 VAR_028892 p.Asp182Glu Polymorphism rs8139422 - CRELD2 Q6UXH1 VAR_028893 p.Ser295Ala Polymorphism rs11545762 - CRELD2 Q6UXH1 VAR_028894 p.Glu325Gly Polymorphism rs11545763 - CREM Q03060 VAR_055561 p.Gln270Arg Polymorphism rs1804604 - CRHR1-IT1 Q96LR1 VAR_032284 p.Tyr132Cys Polymorphism rs393152 - CRHR2 Q13324 VAR_049455 p.Glu220Asp Polymorphism rs34625936 - CRIM1 Q9NZV1 VAR_050907 p.Glu502Lys Polymorphism rs12997487 - CRIM1 Q9NZV1 VAR_061625 p.Val781Ile Polymorphism rs59929305 - CRIPAK Q8N1N5 VAR_038794 p.Cys89Tyr Polymorphism rs13097 - CRIPAK Q8N1N5 VAR_038795 p.His95Pro Polymorphism rs9328733 - CRIPAK Q8N1N5 VAR_050908 p.Val120Met Polymorphism rs13097 - CRIPAK Q8N1N5 VAR_061628 p.His95Arg Polymorphism rs9328733 - CRISP2 P16562 VAR_048832 p.Asn131Ser Polymorphism rs34457011 - CRISP3 P54108 VAR_011718 p.Ser106Pro Polymorphism rs495335 - CRISP3 P54108 VAR_011719 p.Ala134Ser Polymorphism rs1864312 - CRISPLD1 Q9H336 VAR_027255 p.Ala286Ser Polymorphism rs1945 - CRISPLD2 Q9H0B8 VAR_027256 p.Ser105Gly Polymorphism rs12051468 - CRISPLD2 Q9H0B8 VAR_027257 p.Thr322Ser Polymorphism rs721005 - CRLF1 O75462 VAR_017865 p.Arg81His Disease - Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_017866 p.Leu374Arg Disease - Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430] CRLF1 O75462 VAR_028355 p.Arg176Lys Polymorphism rs11672248 - CRLF1 O75462 VAR_033113 p.Trp76Gly Disease - Crisponi syndrome (CRISPS) [MIM:601378] CRLF3 Q8IUI8 VAR_032539 p.Leu389Pro Polymorphism rs11867457 - CRLF3 Q8IUI8 VAR_049180 p.Val202Met Polymorphism rs3764418 - CRMP1 Q14194 VAR_037745 p.Val461Ile Polymorphism rs34611001 - CRNKL1 Q9BZJ0 VAR_024995 p.Gly35Arg Polymorphism rs7508949 - CRNKL1 Q9BZJ0 VAR_049318 p.Phe51Leu Polymorphism rs2273058 - CRNKL1 Q9BZJ0 VAR_049319 p.Gln111His Polymorphism rs2255258 - CRNKL1 Q9BZJ0 VAR_049320 p.Thr158Ala Polymorphism rs2255255 - CRNKL1 Q9BZJ0 VAR_049321 p.Val843Ile Polymorphism rs35201190 - CRNN Q9UBG3 VAR_048469 p.Ala27Val Polymorphism rs35639220 - CRNN Q9UBG3 VAR_048470 p.Gln374His Polymorphism rs6695830 - CRNN Q9UBG3 VAR_048471 p.Gly480Ser Polymorphism rs3829868 - CROCC Q5TZA2 VAR_059628 p.Ala439Val Polymorphism rs4463721 - CROCC Q5TZA2 VAR_059629 p.Asp586His Polymorphism rs9435714 - CROCC Q5TZA2 VAR_059630 p.Arg1097Pro Polymorphism rs6669627 - CROCC Q5TZA2 VAR_061626 p.Arg7Gly Polymorphism rs6586566 - CROCC Q5TZA2 VAR_061627 p.Arg372Gln Polymorphism rs57442576 - CROT Q9UKG9 VAR_048612 p.Arg94His Polymorphism rs3827653 - CROT Q9UKG9 VAR_048613 p.Val474Leu Polymorphism rs7785206 - CRTAC1 Q9NQ79 VAR_048972 p.Ala253Thr Polymorphism rs35853031 - CRTAC1 Q9NQ79 VAR_048973 p.Val569Met Polymorphism rs2297935 - CRTAC1 Q9NQ79 VAR_061152 p.Glu658Lys Polymorphism rs56007204 - CRTAM O95727 VAR_032999 p.Lys321Arg Polymorphism rs2272094 - CRTAM O95727 VAR_033000 p.Ala368Gly Polymorphism rs1916036 - CRTAM O95727 VAR_049868 p.Glu16Ala Polymorphism rs35411582 - CRTAM O95727 VAR_049869 p.Ala78Asp Polymorphism rs34397316 - CRTAM O95727 VAR_049870 p.Asp173Gly Polymorphism rs35136295 - CRTAP O75718 VAR_032846 p.Glu137Asp Polymorphism rs17850371 - CRTAP O75718 VAR_053050 p.Leu261Val Polymorphism rs1135127 - CRTAP O75718 VAR_054442 p.Leu67Pro Disease - Osteogenesis imperfecta type 7 (OI7) [MIM:610682] CRTAP O75718 VAR_063599 p.Ala13Glu Disease - Osteogenesis imperfecta type 7 (OI7) [MIM:610682] CRTAP O75718 VAR_063600 p.Lys157Glu Disease - Osteogenesis imperfecta type 7 (OI7) [MIM:610682] CRTC1 Q6UUV9 VAR_053934 p.Thr286Ala Polymorphism rs3746266 - CRTC1 Q6UUV9 VAR_053935 p.Val311Ile Polymorphism rs36070283 - CRTC1 Q6UUV9 VAR_053936 p.Thr328Ala Polymorphism rs3746266 - CRTC2 Q53ET0 VAR_038756 p.Met147Val Polymorphism rs11264680 - CRTC2 Q53ET0 VAR_038757 p.Arg379Cys Polymorphism - - CRTC3 Q6UUV7 VAR_038758 p.Ser72Asn Polymorphism rs8033595 - CRTC3 Q6UUV7 VAR_038759 p.Leu346Ser Polymorphism - - CRX O43186 VAR_003750 p.Arg41Trp Disease - Cone-rod dystrophy type 2 (CORD2) [MIM:120970] CRX O43186 VAR_003751 p.Glu80Ala Disease rs28939682 Cone-rod dystrophy type 2 (CORD2) [MIM:120970] CRX O43186 VAR_007946 p.Arg41Gln Disease - Retinitis pigmentosa (RP) [MIM:268000] CRX O43186 VAR_007948 p.Ala158Thr Polymorphism - - CRX O43186 VAR_007949 p.Val242Met Disease - Cone-rod dystrophy type 2 (CORD2) [MIM:120970] CRX O43186 VAR_008282 p.Gly122Asp Disease - Retinitis pigmentosa (RP) [MIM:268000] CRX O43186 VAR_008714 p.Arg90Trp Disease - Leber congenital amaurosis type 7 (LCA7) [MIM:613829] CRX O43186 VAR_036438 p.Ser141Phe Unclassified - A breast cancer sample CRX O43186 VAR_063919 p.Lys88Asn Disease - Leber congenital amaurosis type 7 (LCA7) [MIM:613829] CRYAA P02489 VAR_003819 p.Arg116Cys Disease - Cataract autosomal dominant (ADC) [MIM:604219] CRYAA P02489 VAR_036564 p.Asp105His Unclassified - A breast cancer sample CRYAA P02489 VAR_038375 p.Arg49Cys Disease - Cataract autosomal dominant (ADC) [MIM:604219] CRYAA P02489 VAR_046892 p.Arg21Leu Unclassified - - CRYAA P02489 VAR_046893 p.Arg116His Disease - Cataract autosomal dominant (ADC) [MIM:604219] CRYAB P02511 VAR_007899 p.Arg120Gly Disease rs28929489 Myopathy myofibrillar type 2 (MFM2) [MIM:608810] CRYAB P02511 VAR_014607 p.Ser41Tyr Polymorphism rs2234703 - CRYAB P02511 VAR_014608 p.Pro51Leu Polymorphism rs2234704 - CRYBA4 P53673 VAR_014903 p.Thr84Met Polymorphism rs4277 - CRYBA4 P53673 VAR_029528 p.Leu69Pro Disease - Microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426] CRYBA4 P53673 VAR_029529 p.Phe94Ser Disease - Cataract zonular type 2 (CZ2) [MIM:610425] CRYBA4 P53673 VAR_033824 p.Val36Met Polymorphism rs35520672 - CRYBB1 P53674 VAR_065296 p.Ser129Arg Disease - Cataract-microcornea syndrome (CAMIS) [MIM:116150] CRYBB2 P43320 VAR_038431 p.Ala65Ser Polymorphism rs16986560 - CRYBB3 P26998 VAR_025277 p.Arg105Gln Polymorphism rs17670506 - CRYBB3 P26998 VAR_025278 p.His113Asp Polymorphism rs9608378 - CRYBB3 P26998 VAR_025279 p.Val159Ile Polymorphism rs4455261 - CRYBB3 P26998 VAR_025280 p.Gly165Arg Disease - Cataract congenital nuclear autosomal recessive type 2 (CATCN2) [MIM:609741] CRYBG3 Q68DQ2 VAR_039906 p.Arg433His Polymorphism rs11918990 - CRYBG3 Q68DQ2 VAR_039907 p.Tyr761Cys Polymorphism rs17302349 - CRYBG3 Q68DQ2 VAR_039908 p.Asn926His Polymorphism rs4857302 - CRYGA P11844 VAR_021139 p.Pro148Leu Polymorphism - - CRYGB P07316 VAR_021140 p.Ser73Ile Polymorphism - - CRYGB P07316 VAR_021141 p.Ile111Leu Polymorphism rs796287 - CRYGB P07316 VAR_029517 p.Arg90Thr Polymorphism rs2241980 - CRYGC P07315 VAR_021142 p.Thr5Pro Disease - Cataract Coppock-like (CCL) [MIM:604307] CRYGC P07315 VAR_021143 p.Arg48His Polymorphism rs61751949 - CRYGC P07315 VAR_021144 p.Arg169Trp Disease - Cataract autosomal dominant (ADC) [MIM:604219] CRYGC P07315 VAR_038432 p.Phe6Leu Polymorphism rs2242072 - CRYGD P07320 VAR_010733 p.Arg15Cys Disease - Cataract autosomal dominant (ADC) [MIM:604219] CRYGD P07320 VAR_010734 p.Arg37Ser Unclassified - - CRYGD P07320 VAR_010735 p.Arg59His Disease - Cataract crystalline aculeiform (CACA) [MIM:115700] CRYGD P07320 VAR_021145 p.Pro24Thr Disease - Cataract congenital cerulean type 3 (CCA3) [MIM:608983] CRYGD P07320 VAR_021146 p.Met102Val Polymorphism - - CRYGD P07320 VAR_034955 p.Pro24Ser Disease rs28931605 Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286] CRYGD P07320 VAR_034956 p.Glu107Ala Disease - Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286] CRYGD P07320 VAR_064829 p.Trp43Arg Disease - Cataract autosomal dominant (ADC) [MIM:604219] CRYZL1 O95825 VAR_027835 p.Ala39Thr Polymorphism rs13050238 - CRYZ Q08257 VAR_022913 p.Pro66Ser Polymorphism rs11551729 - CRYZ Q08257 VAR_022914 p.Ile176Val Polymorphism rs3819946 - CRYZ Q08257 VAR_048200 p.Glu183Lys Polymorphism rs17095822 - CSAG1 Q6PB30 VAR_032868 p.Tyr28Phe Polymorphism rs1894359 - CSAG1 Q6PB30 VAR_047336 p.Lys62Arg Polymorphism rs2515848 - CSDA P16989 VAR_013114 p.Thr75Ala Polymorphism rs1126501 - CSE1L P55060 VAR_029327 p.Ile754Val Polymorphism rs2229042 - CSE1L P55060 VAR_036558 p.Cys842Phe Unclassified - A colorectal cancer sample CSE1L P55060 VAR_048836 p.Val968Leu Polymorphism rs3505 - CSF1 P09603 VAR_020454 p.Leu408Pro Polymorphism rs1058885 - CSF1 P09603 VAR_020455 p.Ser496Phe Polymorphism - - CSF1 P09603 VAR_022146 p.Ala531Val Polymorphism rs2229167 - CSF1 P09603 VAR_029320 p.Gly438Arg Polymorphism rs2229165 - CSF1 P09603 VAR_048810 p.Ser341Asn Polymorphism rs12565736 - CSF1 P09603 VAR_048811 p.Phe489Ser Polymorphism rs333971 - CSF1R P07333 VAR_011953 p.Tyr969Cys Polymorphism rs1801271 - CSF1R P07333 VAR_042038 p.Val32Gly Polymorphism rs56048668 - CSF1R P07333 VAR_042039 p.His362Arg Polymorphism rs10079250 - CSF1R P07333 VAR_042040 p.Gly413Ser Polymorphism rs34951517 - CSF1R P07333 VAR_042041 p.Leu536Val Polymorphism rs55942044 - CSF1R P07333 VAR_042042 p.Pro693His Unclassified - A lung squamous cell carcinoma sample CSF1R P07333 VAR_042043 p.Glu920Asp Polymorphism rs34030164 - CSF1R P07333 VAR_042044 p.Arg921Gln Polymorphism rs56059682 - CSF1R P07333 VAR_049718 p.Val279Met Polymorphism rs3829986 - CSF1R P07333 VAR_061290 p.Ala245Ser Polymorphism rs41338945 - CSF2 P04141 VAR_001975 p.Ile117Thr Polymorphism rs25882 - CSF2 P04141 VAR_013089 p.Thr115Ile Polymorphism rs2069640 - CSF2RA P15509 VAR_058507 p.Gly196Arg Disease - Pulmonary surfactant metabolism dysfunction type 4 (SMDP4) [MIM:300770] CSF2RB P32927 VAR_014801 p.Pro603Thr Polymorphism rs1801122 - CSF2RB P32927 VAR_014802 p.Gly647Val Polymorphism rs1801115 - CSF2RB P32927 VAR_014803 p.Val652Met Polymorphism rs1801114 - CSF2RB P32927 VAR_042521 p.Glu249Gln Polymorphism rs16845 - CSF2RB P32927 VAR_042522 p.Pro696Ser Polymorphism rs16997517 - CSF3 P09919 VAR_013073 p.Leu157Met Polymorphism rs2227329 - CSF3 P09919 VAR_013074 p.Ala174Thr Polymorphism rs2227330 - CSF3R Q99062 VAR_014325 p.Met231Thr Polymorphism rs3917973 - CSF3R Q99062 VAR_014326 p.Asp320Asn Polymorphism rs3918018 - CSF3R Q99062 VAR_014327 p.Gln346Arg Polymorphism rs3917974 - CSF3R Q99062 VAR_014328 p.Glu405Lys Polymorphism rs3918019 - CSF3R Q99062 VAR_014329 p.Arg440Gln Polymorphism rs3918020 - CSF3R Q99062 VAR_014330 p.Asp510His Polymorphism rs3917991 - CSF3R Q99062 VAR_014331 p.Tyr562His Polymorphism rs3917996 - CSF3R Q99062 VAR_014332 p.Arg583Cys Polymorphism rs3917997 - CSF3R Q99062 VAR_062517 p.Pro229His Unclassified - - CSF3R Q99062 VAR_063065 p.Thr640Asn Disease - Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830] CSGALNACT Q8N6G5 VAR_048715 p.Glu215Lys Polymorphism rs11238456 - CSGALNACT Q8N6G5 VAR_048716 p.Pro479Ser Polymorphism rs2435381 - CSGALNACT Q8TDX6 VAR_055647 p.Val137Ile Polymorphism rs17128518 - CSGALNACT Q8TDX6 VAR_055648 p.Phe473Tyr Polymorphism rs17128366 - CSGALNACT Q8TDX6 VAR_060391 p.Ser193Asn Polymorphism rs7017776 - CSH1 P01243 VAR_007166 p.Pro3Ala Polymorphism rs1130686 - CSHL1 Q14406 VAR_059807 p.Asp141Glu Polymorphism rs2727307 - CSK P41240 VAR_025203 p.Gly287Asp Polymorphism rs34866753 - CSK P41240 VAR_025204 p.Arg398Gln Polymorphism rs34616395 - CSK P41240 VAR_025205 p.His442Arg Polymorphism rs35556162 - CSK P41240 VAR_041678 p.Pro45Leu Polymorphism - - CSMD1 Q96PZ7 VAR_056846 p.Gly3312Trp Polymorphism rs34079122 - CSMD1 Q96PZ7 VAR_059634 p.Met2041Ile Polymorphism rs6995799 - CSMD1 Q96PZ7 VAR_059635 p.Gln3370His Polymorphism rs34337712 - CSMD1 Q96PZ7 VAR_059636 p.Ser3479Asn Polymorphism rs11984691 - CSMD2 Q7Z408 VAR_024330 p.His538Arg Polymorphism rs474474 - CSMD2 Q7Z408 VAR_028081 p.Leu167Pro Polymorphism rs16836099 - CSMD2 Q7Z408 VAR_028082 p.Arg2096Lys Polymorphism rs1874045 - CSMD2 Q7Z408 VAR_028083 p.Ala2117Val Polymorphism rs11588581 - CSMD2 Q7Z408 VAR_028084 p.Met2554Val Polymorphism rs2641962 - CSMD2 Q7Z408 VAR_028085 p.Leu2661Arg Polymorphism rs3820206 - CSMD2 Q7Z408 VAR_028086 p.Ser3406Phe Polymorphism rs1617468 - CSMD2 Q7Z408 VAR_050917 p.Leu2661Val Polymorphism rs34850622 - CSMD3 Q7Z407 VAR_017404 p.Ile219Met Polymorphism rs2219898 - CSMD3 Q7Z407 VAR_017405 p.Val3000Leu Polymorphism rs2193430 - CSMD3 Q7Z407 VAR_017406 p.Asn3621His Polymorphism rs1592624 - CSMD3 Q7Z407 VAR_035688 p.Trp322Gly Unclassified - A colorectal cancer sample CSMD3 Q7Z407 VAR_035689 p.Arg3079His Unclassified - A colorectal cancer sample CSMD3 Q7Z407 VAR_035690 p.Arg3359Gln Unclassified - A colorectal cancer sample CSMD3 Q7Z407 VAR_064703 p.Ser2020Cys Unclassified - - CSN1S1 P47710 VAR_048614 p.Ala117Val Polymorphism rs10030475 - CSN3 P07498 VAR_026338 p.Tyr75Cys Polymorphism rs17850702 - CSN3 P07498 VAR_026339 p.Arg110Leu Polymorphism rs1048152 - CSN3 P07498 VAR_026340 p.Ala145Thr Polymorphism rs3775739 - CSNK1A1L Q8N752 VAR_034047 p.Arg170Ser Polymorphism rs17773251 - CSNK1A1L Q8N752 VAR_036450 p.Arg21Gln Unclassified rs56158728 A colorectal cancer sample CSNK1A1L Q8N752 VAR_042074 p.Ser5Gly Polymorphism rs56224973 - CSNK1A1L Q8N752 VAR_042075 p.Arg21Trp Polymorphism - - CSNK1A1L Q8N752 VAR_042076 p.Asp42Glu Polymorphism rs9576175 - CSNK1A1L Q8N752 VAR_042077 p.Glu177Lys Polymorphism rs17054882 - CSNK1A1L Q8N752 VAR_042078 p.Pro220Leu Polymorphism rs56252856 - CSNK1A1L Q8N752 VAR_042079 p.Lys230Asn Polymorphism rs56252523 - CSNK1A1L Q8N752 VAR_042080 p.Ala257Thr Polymorphism rs55895045 - CSNK1A1 P48729 VAR_042073 p.Asp297His Unclassified - A breast pleomorphic lobular carcinoma sample CSNK1D P48730 VAR_029075 p.Thr44Ala Disease - Familial advanced sleep-phase syndrome (FASPS) [MIM:604348] CSNK1D P48730 VAR_036451 p.Ser97Cys Unclassified - Breast cancer samples CSNK1D P48730 VAR_042081 p.Pro401Ala Polymorphism rs56124628 - CSNK1E P49674 VAR_042082 p.Arg256Leu Unclassified - A lung adenocarcinoma sample CSNK1E P49674 VAR_042083 p.His413Arg Polymorphism rs35665927 - CSNK1G1 Q9HCP0 VAR_042084 p.Arg206Lys Polymorphism rs55799101 - CSNK1G1 Q9HCP0 VAR_042085 p.Val329Ile Polymorphism rs55699712 - CSNK1G2 P78368 VAR_042086 p.Phe189Leu Polymorphism - - CSNK1G2 P78368 VAR_042087 p.Glu194Gly Polymorphism - - CSNK1G2 P78368 VAR_042088 p.Ile196Thr Polymorphism - - CSNK1G2 P78368 VAR_042089 p.Tyr206Cys Polymorphism - - CSNK1G2 P78368 VAR_042090 p.Tyr206His Polymorphism - - CSNK1G2 P78368 VAR_042091 p.Arg207Ser Polymorphism - - CSNK1G2 P78368 VAR_042092 p.Glu208Gln Polymorphism - - CSNK1G2 P78368 VAR_042093 p.Arg217Cys Polymorphism - - CSNK1G2 P78368 VAR_042094 p.Thr223Met Polymorphism - - CSNK2A2 P19784 VAR_040416 p.Glu188Ala Polymorphism rs55911801 - CSPG4P5 Q96PW8 VAR_039011 p.Val431Ile Polymorphism rs468120 - CSPG4 Q6UVK1 VAR_061733 p.Arg1703His Polymorphism rs8023621 - CSPG5 O95196 VAR_055089 p.Gly188Val Polymorphism rs3732530 - CSPG5 O95196 VAR_055090 p.Thr417Pro Polymorphism rs34016925 - CSPP1 Q1MSJ5 VAR_033045 p.Arg907His Polymorphism rs16933182 - CSPP1 Q1MSJ5 VAR_047014 p.Trp1135Arg Polymorphism rs1808140 - CSRNP1 Q96S65 VAR_055100 p.Val453Ile Polymorphism rs1274958 - CSRNP2 Q9H175 VAR_053016 p.Thr436Met Polymorphism rs11542510 - CSRNP3 Q8WYN3 VAR_035993 p.Pro474Leu Unclassified - A colorectal cancer sample CSRP1 P21291 VAR_050144 p.Lys108Ile Polymorphism rs3738283 - CSRP2BP Q9H8E8 VAR_020466 p.Arg442Thr Polymorphism rs2295182 - CSRP2BP Q9H8E8 VAR_028034 p.Pro214Leu Polymorphism rs6081011 - CSRP2BP Q9H8E8 VAR_028035 p.Val400Gly Polymorphism rs1205193 - CSRP2BP Q9H8E8 VAR_033839 p.Pro600Arg Polymorphism rs11557577 - CSRP2BP Q9H8E8 VAR_048166 p.Ala738Ser Polymorphism rs6081027 - CSRP3 P50461 VAR_015401 p.Trp4Arg Disease rs45550635 Cardiomyopathy dilated type 1M (CMD1M) [MIM:607482] CSRP3 P50461 VAR_045932 p.Leu44Pro Disease - Familial hypertrophic cardiomyopathy type 12 (CMH12) [MIM:612124] CSRP3 P50461 VAR_045934 p.Cys58Gly Disease - Familial hypertrophic cardiomyopathy type 12 (CMH12) [MIM:612124] CST1 P01037 VAR_028932 p.Tyr4His Polymorphism rs6076122 - CST1 P01037 VAR_028933 p.Pro31Leu Polymorphism rs2070856 - CST1 P01037 VAR_028934 p.Asn129Asp Polymorphism rs3188319 - CST1 P01037 VAR_028935 p.Arg131Met Polymorphism rs3188320 - CST1 P01037 VAR_028936 p.Lys135Asn Polymorphism rs3188322 - CST3 P01034 VAR_002207 p.Leu94Gln Disease rs28939068 Amyloidosis type 6 (AMYL6) [MIM:105150] CST3 P01034 VAR_011893 p.Ala25Thr Polymorphism rs1064039 - CST4 P01036 VAR_036549 p.Thr77Asn Unclassified - A breast cancer sample CST4 P01036 VAR_048852 p.Asp36Asn Polymorphism rs3210291 - CST5 P28325 VAR_002208 p.Cys46Arg Polymorphism rs1799841 - CST8 O60676 VAR_014527 p.Ala142Pro Polymorphism rs1054633 - CST8 O60676 VAR_061130 p.Ala52Val Polymorphism rs35190670 - CST9L Q9H4G1 VAR_022079 p.His109Pro Polymorphism rs2295564 - CST9 Q5W186 VAR_038045 p.Leu48Phe Polymorphism rs2983640 - CSTA P01040 VAR_048851 p.Thr96Met Polymorphism rs34173813 - CSTB P04080 VAR_002206 p.Gly4Arg Disease - Progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800] CSTL1 Q9H114 VAR_024425 p.Trp88Arg Polymorphism rs3746736 - CSTL1 Q9H114 VAR_024426 p.Thr96Met Polymorphism rs3746737 - CSTL1 Q9H114 VAR_033841 p.Thr59Ala Polymorphism rs7361799 - CSTL1 Q9H114 VAR_033842 p.Tyr62Phe Polymorphism rs16985357 - CSTL1 Q9H114 VAR_033843 p.Arg66Lys Polymorphism rs17757442 - CTAG2 O75638 VAR_007855 p.Gln6Arg Polymorphism rs34402964 - CTAG2 O75638 VAR_007856 p.Gln89Glu Polymorphism rs17328091 - CTAG2 O75638 VAR_057512 p.Pro99Ala Polymorphism rs5987003 - CTAGE1 Q96RT6 VAR_046956 p.Ile682Val Polymorphism rs9946136 - CTAGE5 O15320 VAR_047889 p.Val6Ala Polymorphism rs7140561 - CTAGE5 O15320 VAR_047890 p.Tyr11Asp Polymorphism rs17855895 - CTAGE5 O15320 VAR_047891 p.Lys205Asn Polymorphism rs17855896 - CTAGE5 O15320 VAR_047892 p.Lys250Glu Polymorphism rs10162564 - CTAGE5 O15320 VAR_047893 p.Glu360Gln Polymorphism rs1950952 - CTAGE5 O15320 VAR_047894 p.Asn375Ser Polymorphism rs17109109 - CTAGE5 O15320 VAR_047895 p.Ile699Val Polymorphism rs1140952 - CTAGE5 O15320 VAR_047896 p.Gly738Arg Polymorphism rs1060878 - CTBP2 P56545 VAR_033844 p.Glu47Asp Polymorphism rs3198926 - CTBS Q01459 VAR_020160 p.Asp310Tyr Polymorphism rs3768249 - CTBS Q01459 VAR_049197 p.Val274Ile Polymorphism rs15911 - CTC1 Q2NKJ3 VAR_032282 p.Ile820Val Polymorphism rs3027238 - CTC1 Q2NKJ3 VAR_032283 p.Ile1005Val Polymorphism rs3826543 - CTCFL Q8NI51 VAR_023213 p.Glu50Gln Polymorphism rs6070128 - CTCFL Q8NI51 VAR_023214 p.Thr177Ala Polymorphism rs6025606 - CTCFL Q8NI51 VAR_032766 p.Gln525Glu Polymorphism rs6070122 - CTCFL Q8NI51 VAR_057374 p.Arg448His Polymorphism rs6092491 - CTCF P49711 VAR_013141 p.Arg339Trp Unclassified - A Wilms' tumor CTCF P49711 VAR_013142 p.Lys344Glu Unclassified - A breast tumor CTCF P49711 VAR_013143 p.His345Arg Unclassified - A prostate tumor CTCF P49711 VAR_013144 p.Arg448Gln Unclassified - A Wilms' tumor CTDNEP1 O95476 VAR_034699 p.Thr12Ala Polymorphism rs3744399 - CTDP1 Q9Y5B0 VAR_018264 p.Thr340Met Polymorphism rs2279103 - CTDP1 Q9Y5B0 VAR_032763 p.Leu755Ser Polymorphism rs34967023 - CTDP1 Q9Y5B0 VAR_060440 p.Ser282Phe Polymorphism rs4799078 - CTDP1 Q9Y5B0 VAR_060441 p.Pro519His Polymorphism rs557503 - CTDSP1 Q9GZU7 VAR_049054 p.Ala56Thr Polymorphism rs2227249 - CTDSPL2 Q05D32 VAR_042886 p.Ala244Val Polymorphism rs871923 - CTDSPL O15194 VAR_019683 p.Ser121Pro Polymorphism - - CTDSPL O15194 VAR_019684 p.Asn127Ser Polymorphism - - CTDSPL O15194 VAR_019685 p.Val132Gly Polymorphism - - CTF1 Q16619 VAR_014938 p.Ala92Thr Polymorphism rs2234933 - CTGF P29279 VAR_027925 p.His83Asp Polymorphism rs7451102 - CTH P32929 VAR_015450 p.Thr67Ile Disease rs28941785 Cystathioninuria (CSTNU) [MIM:219500] CTH P32929 VAR_015451 p.Gln240Glu Disease rs28941786 Cystathioninuria (CSTNU) [MIM:219500] CTH P32929 VAR_015452 p.Ser403Ile Polymorphism rs1021737 - CTIF O43310 VAR_020041 p.Pro82Leu Polymorphism rs2277712 - CTIF O43310 VAR_035749 p.Val389Leu Unclassified - A breast cancer sample CTIF O43310 VAR_035750 p.Met438Ile Unclassified - A breast cancer sample CTLA4 P16410 VAR_013577 p.Thr17Ala Polymorphism rs231775 - CTNNA1 P35221 VAR_022303 p.Ala179Val Polymorphism rs28363394 - CTNNA1 P35221 VAR_022304 p.Pro219Ser Polymorphism rs28363406 - CTNNA3 Q9UI47 VAR_053369 p.Ser596Asn Polymorphism rs4548513 - CTNNA3 Q9UI47 VAR_062093 p.Arg535Cys Polymorphism rs41274090 - CTNNAL1 Q9UBT7 VAR_020924 p.Asn91Thr Polymorphism rs28361109 - CTNNAL1 Q9UBT7 VAR_020925 p.Glu203Lys Polymorphism rs28361118 - CTNNAL1 Q9UBT7 VAR_020926 p.Glu527Gln Polymorphism rs7021366 - CTNNAL1 Q9UBT7 VAR_020927 p.Ile593Asn Polymorphism rs28361167 - CTNNAL1 Q9UBT7 VAR_020928 p.Met716Arg Polymorphism rs28361182 - CTNNAL1 Q9UBT7 VAR_033845 p.Thr424Ser Polymorphism rs16913734 - CTNNAL1 Q9UBT7 VAR_053370 p.Asp555Glu Polymorphism rs34922868 - CTNNB1 P35222 VAR_017612 p.Ser23Arg Unclassified - Hepatocellular carcinoma CTNNB1 P35222 VAR_017614 p.Asp32Ala Unclassified - Hepatocellular carcinoma CTNNB1 P35222 VAR_017615 p.Asp32Gly Disease - Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017616 p.Asp32Tyr Disease rs28931588 Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017617 p.Ser33Phe Disease - Medulloblastoma (MDB) [MIM:155255] CTNNB1 P35222 VAR_017617 p.Ser33Phe Disease - Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017618 p.Ser33Leu Unclassified - Hepatocellular carcinoma CTNNB1 P35222 VAR_017619 p.Ser33Tyr Disease - Colorectal cancer (CRC) [MIM:114500] CTNNB1 P35222 VAR_017619 p.Ser33Tyr Disease - Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017620 p.Gly34Glu Disease - Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017621 p.Gly34Arg Unclassified - Hepatocellular carcinoma CTNNB1 P35222 VAR_017622 p.Gly34Val Polymorphism rs28931589 - CTNNB1 P35222 VAR_017623 p.Ile35Ser Unclassified - Hepatocellular carcinoma CTNNB1 P35222 VAR_017624 p.Ser37Ala Disease - Medulloblastoma (MDB) [MIM:155255] CTNNB1 P35222 VAR_017625 p.Ser37Cys Disease - Ovarian cancer (OC) [MIM:167000] CTNNB1 P35222 VAR_017625 p.Ser37Cys Disease - Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017626 p.Ser37Phe Disease - Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017627 p.Ser37Tyr Unclassified - Hepatocellular carcinoma CTNNB1 P35222 VAR_017629 p.Thr41Ala Unclassified - Hepatocellular carcinoma CTNNB1 P35222 VAR_017630 p.Thr41Ile Disease - Ovarian cancer (OC) [MIM:167000] CTNNB1 P35222 VAR_017630 p.Thr41Ile Disease - Pilomatrixoma (PTR) [MIM:132600] CTNNB1 P35222 VAR_017631 p.Ser45Phe Unclassified - Hepatocellular carcinoma CTNNB1 P35222 VAR_017632 p.Ser45Pro Unclassified - Hepatocellular carcinoma CTNNB1 P35222 VAR_018954 p.Met688Val Polymorphism rs4135384 - CTNNBL1 Q8WYA6 VAR_059638 p.Asn507Asp Polymorphism rs4811236 - CTNND1 O60716 VAR_020929 p.Tyr217Cys Polymorphism rs11570194 - CTNND1 O60716 VAR_020930 p.Arg464Cys Polymorphism rs11570199 - CTNND1 O60716 VAR_020931 p.Arg915Lys Polymorphism rs11570222 - CTNND1 O60716 VAR_038255 p.Ser171Phe Polymorphism rs11229133 - CTNND2 Q9UQB3 VAR_036162 p.Pro1159Ser Unclassified - A colorectal cancer sample CTNND2 Q9UQB3 VAR_062270 p.Gly275Cys Polymorphism - - CTNND2 Q9UQB3 VAR_062271 p.Ala482Thr Polymorphism - - CTNND2 Q9UQB3 VAR_062272 p.Gly810Arg Polymorphism - - CTNS O60931 VAR_010285 p.Val42Ile Polymorphism rs35086888 - CTNS O60931 VAR_010286 p.Gly169Asp Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010287 p.Lys280Arg Disease - Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] CTNS O60931 VAR_010288 p.Asn323Lys Disease - Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] CTNS O60931 VAR_010677 p.Ile133Phe Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010678 p.Ser139Phe Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010680 p.Leu158Pro Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010681 p.Trp182Arg Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010682 p.Gly197Arg Disease - Cystinosis adult non-nephropathic type (CTNSANN) [MIM:219750] CTNS O60931 VAR_010683 p.Asp205Asn Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010690 p.Asp305Gly Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010691 p.Asp305Tyr Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010692 p.Gly308Arg Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010694 p.Leu338Pro Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010695 p.Gly339Arg Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_010698 p.Asp346Asn Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_012314 p.Lys292Arg Unclassified rs1800527 - CTNS O60931 VAR_012315 p.Ser298Asn Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_037318 p.Gly110Val Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_037319 p.Asn177Thr Disease - Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] CTNS O60931 VAR_037320 p.Pro200Leu Disease - Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] CTNS O60931 VAR_037321 p.Gln222Arg Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_037322 p.Asn288Lys Disease - Cystinosis nephropathic type (CTNS) [MIM:219800] CTNS O60931 VAR_060371 p.Thr260Ile Polymorphism rs161400 - CTPS1 P17812 VAR_027055 p.Ser571Ile Polymorphism rs17856308 - CTRB1 P17538 VAR_014566 p.Thr250Ala Polymorphism rs4737 - CTRB1 P17538 VAR_057158 p.Asp222His Polymorphism rs8061550 - CTRB2 Q6GPI1 VAR_062766 p.Ala250Thr Polymorphism rs4737 - CTRC Q99895 VAR_010928 p.Arg80Trp Polymorphism - - CTRC Q99895 VAR_043516 p.Asp35His Polymorphism - - CTRC Q99895 VAR_043517 p.Asp35Asn Polymorphism - - CTRC Q99895 VAR_043518 p.Arg37Gln Unclassified - - CTRC Q99895 VAR_043519 p.Gln48Arg Unclassified - - CTRC Q99895 VAR_043520 p.Ala73Thr Unclassified - - CTRC Q99895 VAR_043521 p.Lys172Glu Polymorphism rs34949635 - CTRC Q99895 VAR_043522 p.Gly217Arg Polymorphism - - CTRC Q99895 VAR_043523 p.Gly217Ser Unclassified - - CTRC Q99895 VAR_043524 p.Gly218Ser Polymorphism - - CTRC Q99895 VAR_043525 p.Leu220Arg Polymorphism - - CTRC Q99895 VAR_043526 p.Glu225Ala Polymorphism - - CTRC Q99895 VAR_043527 p.Val235Ile Unclassified - - CTRC Q99895 VAR_043528 p.Pro249Leu Polymorphism - - CTRC Q99895 VAR_043529 p.Arg254Trp Unclassified - - CTRC Q99895 VAR_043530 p.Asp260Asn Polymorphism - - CTRL P40313 VAR_021939 p.His173Arg Polymorphism rs1134760 - CTRL P40313 VAR_051834 p.Thr150Ile Polymorphism rs11552953 - CTSA P10619 VAR_001385 p.Gln49Arg Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001386 p.Trp65Arg Disease rs28934603 Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001387 p.Ser90Leu Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001388 p.Tyr249Asn Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001389 p.Tyr395Cys Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_001390 p.Phe440Val Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063018 p.Ser51Tyr Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063019 p.Val132Met Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063020 p.Leu236Pro Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063021 p.Met406Thr Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063022 p.Gly439Ser Disease - Galactosialidosis (GSL) [MIM:256540] CTSA P10619 VAR_063023 p.Lys453Glu Disease - Galactosialidosis (GSL) [MIM:256540] CTSB P07858 VAR_006724 p.Leu26Val Polymorphism rs12338 - CTSB P07858 VAR_014696 p.Ser235Asn Polymorphism rs17573 - CTSB P07858 VAR_051511 p.Ser53Gly Polymorphism rs1803250 - CTSB P07858 VAR_051512 p.Pro91Leu Polymorphism rs11548596 - CTSC P53634 VAR_009541 p.Val249Phe Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009542 p.Gln252Leu Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009543 p.Arg272Pro Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009544 p.Gly301Ser Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009545 p.Arg339Cys Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_009546 p.Tyr347Cys Disease - Aggressive periodontititis type 1 (AP1) [MIM:170650] CTSC P53634 VAR_009546 p.Tyr347Cys Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016933 p.Trp39Ser Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016934 p.His127Pro Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016935 p.Gln286Arg Disease - Haim-Munk syndrome (HMS) [MIM:245010] CTSC P53634 VAR_016935 p.Gln286Arg Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016936 p.Trp429Cys Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016943 p.Ile153Thr Polymorphism rs217086 - CTSC P53634 VAR_016944 p.Tyr340Cys Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_016945 p.Glu401Lys Polymorphism - - CTSC P53634 VAR_016946 p.Ile453Val Polymorphism rs3888798 - CTSC P53634 VAR_019036 p.Val129Glu Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019037 p.Gly139Arg Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019038 p.Asp236Tyr Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019039 p.Arg272His Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019040 p.Cys291Tyr Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019041 p.Gly300Asp Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019042 p.Gly300Ser Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019043 p.Gly301Val Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019044 p.Tyr304Asn Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019045 p.Gln312Arg Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019046 p.Glu319Gly Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_019047 p.Tyr412Cys Disease rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650] CTSC P53634 VAR_019048 p.Glu447Gly Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_027249 p.His405Asn Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_027250 p.His405Arg Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSC P53634 VAR_039686 p.Tyr294His Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000] CTSD P07339 VAR_011621 p.Ala58Val Polymorphism rs17571 - CTSD P07339 VAR_029362 p.Phe229Ile Disease - Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127] CTSD P07339 VAR_029363 p.Trp383Cys Disease - Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127] CTSD P07339 VAR_058490 p.Gly282Arg Polymorphism - - CTSE P14091 VAR_014572 p.Thr329Ile Polymorphism rs6503 - CTSE P14091 VAR_061731 p.Ile82Val Polymorphism rs57621203 - CTSF Q9UBX1 VAR_051513 p.Gln153Arg Polymorphism rs11550508 - CTSG P08311 VAR_006491 p.Asn125Ser Polymorphism rs45567233 - CTSH P09668 VAR_036478 p.Gly126Arg Unclassified - A colorectal cancer sample CTSH P09668 VAR_057038 p.Gly11Arg Polymorphism rs2289702 - CTSH P09668 VAR_057039 p.Ala23Thr Polymorphism rs35001431 - CTSH P09668 VAR_060368 p.Cys26Ser Polymorphism rs1036938 - CTSK P43235 VAR_006725 p.Gly146Arg Disease - Pycnodysostosis (PKND) [MIM:265800] CTSK P43235 VAR_006726 p.Leu309Pro Disease rs29001685 Pycnodysostosis (PKND) [MIM:265800] CTSK P43235 VAR_015738 p.Gly79Glu Disease - Pycnodysostosis (PKND) [MIM:265800] CTSK P43235 VAR_015739 p.Ala277Val Disease - Pycnodysostosis (PKND) [MIM:265800] CTSL3P Q5NE16 VAR_057040 p.Ser123Gly Polymorphism rs11141967 - CTSS P25774 VAR_025385 p.Arg113Trp Polymorphism rs2230061 - CTSS P25774 VAR_025386 p.Ser161Thr Polymorphism rs1059604 - CTSW P56202 VAR_057041 p.Gln218Arg Polymorphism rs606830 - CTSW P56202 VAR_058847 p.Ser139Gly Polymorphism rs604630 - CTSZ Q9UBR2 VAR_010254 p.Pro36Ser Polymorphism - - CTSZ Q9UBR2 VAR_010255 p.Ala129Arg Unclassified - - CTSZ Q9UBR2 VAR_033719 p.Ala286Thr Polymorphism rs34069356 - CTTNBP2NL Q9P2B4 VAR_050925 p.Val296Met Polymorphism rs1175640 - CTTNBP2NL Q9P2B4 VAR_050926 p.Ser409Gly Polymorphism rs12137578 - CTTNBP2 Q8WZ74 VAR_025535 p.Leu1213Val Polymorphism - - CTTNBP2 Q8WZ74 VAR_048294 p.Gln1148Lys Polymorphism rs10274022 - CTU1 Q7Z7A3 VAR_031402 p.Ala107Val Polymorphism rs17855403 - CTU2 Q2VPK5 VAR_032595 p.Met253Val Polymorphism rs11549837 - CTU2 Q2VPK5 VAR_032596 p.Val332Ile Polymorphism rs4782321 - CTU2 Q2VPK5 VAR_032597 p.Gln416Arg Polymorphism rs8059048 - CTU2 Q2VPK5 VAR_062244 p.His186Tyr Polymorphism rs2290895 - CTXN3 Q4LDR2 VAR_031763 p.Glu17Val Polymorphism rs248709 - CTXN3 Q4LDR2 VAR_053885 p.Met23Ile Polymorphism rs2280170 - CUBN O60494 VAR_025284 p.Phe124Ile Polymorphism rs1801220 - CUBN O60494 VAR_025285 p.Phe253Ser Polymorphism rs1801222 - CUBN O60494 VAR_025286 p.Pro389Thr Polymorphism rs1801224 - CUBN O60494 VAR_025287 p.Tyr1032His Polymorphism rs1801227 - CUBN O60494 VAR_025288 p.Pro1297Leu Disease rs28939699 Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100] CUBN O60494 VAR_025289 p.Asn1545Tyr Polymorphism - - CUBN O60494 VAR_025290 p.Pro1559Ser Polymorphism rs1801231 - CUBN O60494 VAR_025291 p.Val1769Ile Polymorphism - - CUBN O60494 VAR_025292 p.Leu2153Phe Polymorphism - - CUBN O60494 VAR_025293 p.Cys2162Tyr Polymorphism rs1276712 - CUBN O60494 VAR_025294 p.Pro2575Arg Polymorphism rs3740168 - CUBN O60494 VAR_025295 p.Gly2691Arg Polymorphism rs1801237 - CUBN O60494 VAR_025296 p.Ser2717Trp Polymorphism rs2796835 - CUBN O60494 VAR_025297 p.Leu2879Ile Polymorphism rs45474496 - CUBN O60494 VAR_025298 p.Ile2984Val Polymorphism rs1801239 - CUBN O60494 VAR_025299 p.Glu3002Gly Polymorphism rs1801240 - CUBN O60494 VAR_025300 p.Thr3422Ile Polymorphism rs1801230 - CUBN O60494 VAR_025301 p.Asn3552Lys Polymorphism rs1801232 - CUBN O60494 VAR_035829 p.His786Gln Unclassified - A breast cancer sample CUBN O60494 VAR_035830 p.Ala2252Val Unclassified - A colorectal cancer sample CUBN O60494 VAR_035831 p.Ala2914Val Unclassified rs45551835 A breast cancer sample CUBN O60494 VAR_035832 p.Ile3189Val Unclassified - A breast cancer sample CUBN O60494 VAR_047443 p.Gly66Arg Polymorphism rs12259370 - CUBN O60494 VAR_047444 p.Ile504Met Polymorphism rs2228053 - CUBN O60494 VAR_047445 p.His730Tyr Polymorphism rs7905349 - CUBN O60494 VAR_047446 p.Leu969Val Polymorphism rs11254354 - CUBN O60494 VAR_047447 p.Arg1775Trp Polymorphism rs1276708 - CUBN O60494 VAR_047448 p.Gly1840Ser Polymorphism rs2271462 - CUBN O60494 VAR_047449 p.Ser1935Gly Polymorphism rs41289305 - CUBN O60494 VAR_047450 p.Pro1971Thr Polymorphism rs2356590 - CUBN O60494 VAR_047451 p.Phe2263Cys Polymorphism rs2271460 - CUBN O60494 VAR_047452 p.Arg2444Gln Polymorphism rs11254274 - CUBN O60494 VAR_047453 p.Glu2968Gln Polymorphism rs45569534 - CUBN O60494 VAR_055714 p.Thr3432Ser Polymorphism rs7898873 - CUBN O60494 VAR_061154 p.Ala335Thr Polymorphism rs57335729 - CUBN O60494 VAR_064704 p.Ser3258Gly Unclassified - - CUEDC1 Q9NWM3 VAR_021951 p.Pro205Ser Polymorphism rs2304942 - CUEDC1 Q9NWM3 VAR_033765 p.Arg316Gln Polymorphism rs34800498 - CUEDC1 Q9NWM3 VAR_050933 p.Arg169His Polymorphism rs17762338 - CUL2 Q13617 VAR_011374 p.Asn109Ser Polymorphism rs1131503 - CUL3 Q13618 VAR_017194 p.Asp13His Polymorphism rs2969802 - CUL3 Q13618 VAR_017195 p.Val567Ile Polymorphism rs3738952 - CUL3 Q13618 VAR_048839 p.Arg184Ser Polymorphism rs17480168 - CUL4A Q13619 VAR_020341 p.Lys644Arg Polymorphism rs2302757 - CUL4B Q13620 VAR_032272 p.Leu103Pro Polymorphism rs61759504 - CUL4B Q13620 VAR_032273 p.Thr213Ile Unclassified - - CUL4B Q13620 VAR_032274 p.Arg572Cys Disease - Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354] CUL4B Q13620 VAR_032275 p.Val745Ala Disease - Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354] CUL7 Q14999 VAR_026121 p.Gln813Arg Polymorphism rs9381231 - CUL7 Q14999 VAR_026122 p.Leu1014Arg Disease - 3M syndrome type 1 (3M1) [MIM:273750] CUL7 Q14999 VAR_026123 p.Gln1246Gly Disease - 3M syndrome type 1 (3M1) [MIM:273750] CUL7 Q14999 VAR_026124 p.His1464Pro Disease - 3M syndrome type 1 (3M1) [MIM:273750] CUL7 Q14999 VAR_048841 p.Ser616Gly Polymorphism rs7774330 - CUL7 Q14999 VAR_048842 p.Arg852Gln Polymorphism rs34574340 - CUL7 Q14999 VAR_048843 p.Gln1246His Polymorphism rs36071170 - CUL9 Q8IWT3 VAR_048844 p.His2058Pro Polymorphism rs2273709 - CUL9 Q8IWT3 VAR_048845 p.Thr2180Ile Polymorphism rs11962520 - CUTC Q9NTM9 VAR_036363 p.Pro77Leu Unclassified - A breast cancer sample CUX1 Q13948 VAR_024923 p.Ala464Thr Polymorphism rs803064 - CUX1 Q13948 VAR_024924 p.Ile545Val Polymorphism rs2230103 - CUX1 Q13948 VAR_036285 p.Ser490Gly Unclassified - A breast cancer sample CUX1 Q13948 VAR_036286 p.Arg609Cys Unclassified - A colorectal cancer sample CUX2 O14529 VAR_065096 p.Val1472Leu Polymorphism rs6490073 - CUZD1 Q86UP6 VAR_061992 p.Gly156Ser Polymorphism rs35120257 - CWC22 Q9HCG8 VAR_057513 p.Ala656Val Polymorphism rs17778270 - CWC22 Q9HCG8 VAR_057514 p.Asp741Val Polymorphism rs11903115 - CWC22 Q9HCG8 VAR_057515 p.Arg794Gln Polymorphism rs1046356 - CWC27 Q6UX04 VAR_037686 p.Pro256Ala Polymorphism rs7735338 - CWF19L1 Q69YN2 VAR_038264 p.Cys160Tyr Polymorphism rs2270962 - CWF19L1 Q69YN2 VAR_038265 p.Pro259Leu Polymorphism rs7073610 - CWF19L1 Q69YN2 VAR_038266 p.Arg523His Polymorphism rs35490714 - CWF19L1 Q69YN2 VAR_038267 p.Arg526Gln Polymorphism rs7922946 - CWF19L2 Q2TBE0 VAR_038268 p.Pro210Thr Polymorphism rs608634 - CWF19L2 Q2TBE0 VAR_038269 p.His443Tyr Polymorphism rs659040 - CWF19L2 Q2TBE0 VAR_038270 p.His445Gln Polymorphism rs35968518 - CWF19L2 Q2TBE0 VAR_038271 p.Gly537Arg Polymorphism rs17106909 - CWF19L2 Q2TBE0 VAR_038272 p.Tyr894Cys Polymorphism rs3758911 - CWH43 Q9H720 VAR_039234 p.Pro2Thr Polymorphism rs3747690 - CWH43 Q9H720 VAR_039235 p.His689Asn Polymorphism rs1051447 - CX3CL1 P78423 VAR_048714 p.Ala240Val Polymorphism rs35860084 - CX3CR1 P49238 VAR_010041 p.Thr57Ala Polymorphism - - CX3CR1 P49238 VAR_010042 p.Val122Ile Polymorphism - - CX3CR1 P49238 VAR_010043 p.Val249Ile Polymorphism rs3732379 - CX3CR1 P49238 VAR_010044 p.Thr280Met Polymorphism rs3732378 - CX3CR1 P49238 VAR_022062 p.Val147Ile Polymorphism rs3732380 - CX3CR1 P49238 VAR_049386 p.Glu13Asp Polymorphism rs41535248 - CXADR P78310 VAR_049871 p.Ser323Arg Polymorphism rs34727960 - CXCL11 O14625 VAR_048700 p.Asn55Ser Polymorphism rs4859596 - CXCL16 Q9H2A7 VAR_015424 p.Ile123Thr Polymorphism - - CXCL16 Q9H2A7 VAR_015425 p.Ala181Val Polymorphism rs2277680 - CXCL3 P19876 VAR_059210 p.His3Arg Polymorphism rs352043 - CXCR1 P25024 VAR_003479 p.Ser276Thr Polymorphism rs2234671 - CXCR1 P25024 VAR_016236 p.Arg71Cys Polymorphism rs1805038 - CXCR1 P25024 VAR_016237 p.Ala306Thr Polymorphism - - CXCR1 P25024 VAR_016238 p.Arg335Cys Polymorphism rs16858808 - CXCR1 P25024 VAR_021061 p.Met31Arg Polymorphism rs16858811 - CXCR1 P25024 VAR_021062 p.Ser342Leu Polymorphism rs16858806 - CXCR1 P25024 VAR_026525 p.Met268Leu Polymorphism rs9282752 - CXCR2 P25025 VAR_014679 p.Arg80Cys Polymorphism rs1805038 - CXCR3 P49682 VAR_016240 p.Arg292Gln Polymorphism - - CXCR3 P49682 VAR_016241 p.Ala363Thr Polymorphism - - CXCR5 P32302 VAR_011838 p.Gly344Ser Polymorphism rs665648 - CXCR5 P32302 VAR_035757 p.Glu34Lys Unclassified - A breast cancer sample CXCR6 O00574 VAR_003506 p.Asp25Ala Unclassified - - CXCR6 O00574 VAR_024253 p.Glu3Lys Polymorphism rs2234355 - CXCR7 P25106 VAR_027477 p.Leu219Trp Polymorphism rs10183641 - CXorf22 Q6ZTR5 VAR_056856 p.Val236Met Polymorphism rs2336029 - CXorf22 Q6ZTR5 VAR_060280 p.Cys345Arg Polymorphism rs6632427 - CXorf22 Q6ZTR5 VAR_060281 p.Ala561Thr Polymorphism rs11795910 - CXorf22 Q6ZTR5 VAR_060282 p.His634Tyr Polymorphism rs17852470 - CXorf22 Q6ZTR5 VAR_060283 p.Phe964Leu Polymorphism rs6629027 - CXorf27 O75409 VAR_028810 p.Val68Ile Polymorphism rs6651635 - CXorf30 A6PW82 VAR_044195 p.Ile332Val Polymorphism rs16998547 - CXorf30 A6PW82 VAR_044196 p.Ile363Met Polymorphism rs6527558 - CXorf30 A6PW82 VAR_044197 p.His606Arg Polymorphism rs6527569 - CXorf36 Q9H7Y0 VAR_047103 p.Arg128Lys Polymorphism rs1132201 - CXorf36 Q9H7Y0 VAR_047104 p.Arg146Gln Polymorphism rs9969 - CXorf38 Q8TB03 VAR_050936 p.Thr176Ala Polymorphism rs17145855 - CXorf57 Q6NSI4 VAR_028816 p.Ile593Met Polymorphism rs5962707 - CXorf58 Q96LI9 VAR_029857 p.Arg24Cys Polymorphism rs2707164 - CXorf58 Q96LI9 VAR_029858 p.Arg187His Polymorphism rs16982852 - CXorf64 B1ATL7 VAR_059650 p.Met193Thr Polymorphism rs4289953 - CXorf64 B1ATL7 VAR_061638 p.Leu115Val Polymorphism rs12835991 - CXorf65 A6NEN9 VAR_045896 p.Arg156His Polymorphism rs12009522 - CXorf66 Q5JRM2 VAR_046157 p.Pro233Leu Polymorphism rs5955139 - CXorf67 Q86X51 VAR_038938 p.Arg470Lys Polymorphism rs1875755 - CXXC11 Q14D33 VAR_060791 p.Gly101Glu Polymorphism rs7420371 - CYB5D1 Q6P9G0 VAR_037486 p.Phe20Leu Polymorphism rs12453250 - CYB5D2 Q8WUJ1 VAR_037487 p.Arg7Gly Unclassified - A colorectal cancer sample CYB5D2 Q8WUJ1 VAR_037488 p.Arg7Pro Unclassified - A colorectal cancer sample CYB5R1 Q9UHQ9 VAR_032320 p.Asn44Ser Polymorphism rs2232842 - CYB5R2 Q6BCY4 VAR_032321 p.Glu15Ala Polymorphism rs11041525 - CYB5R2 Q6BCY4 VAR_032322 p.Asn209Asp Polymorphism rs12801394 - CYB5R3 P00387 VAR_004619 p.Arg58Gln Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_004620 p.Val106Met Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_004621 p.Ser128Pro Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_004622 p.Leu149Pro Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_010750 p.Leu73Pro Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_010751 p.Thr117Ser Polymorphism rs1800457 - CYB5R3 P00387 VAR_010752 p.Ala179Val Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_010753 p.Cys204Arg Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_010754 p.Cys204Tyr Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R3 P00387 VAR_018419 p.Ser66Pro Polymorphism rs1130706 - CYB5R3 P00387 VAR_037316 p.Gly292Asp Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] CYB5R4 Q7L1T6 VAR_032323 p.Gln187Arg Polymorphism - - CYB5R4 Q7L1T6 VAR_032324 p.His223Arg Polymorphism - - CYB5R4 Q7L1T6 VAR_032325 p.Ser282Pro Polymorphism rs10080628 - CYB5R4 Q7L1T6 VAR_036240 p.Asp371Tyr Unclassified - A breast cancer sample CYB5R4 Q7L1T6 VAR_036241 p.Leu390Met Unclassified - A breast cancer sample CYB5R4 Q7L1T6 VAR_047967 p.Arg140His Polymorphism - - CYB5R4 Q7L1T6 VAR_047968 p.Pro267Ala Polymorphism rs61382555 - CYB5R4 Q7L1T6 VAR_047969 p.Pro316Ser Polymorphism rs10080628 - CYB5RL Q6IPT4 VAR_043577 p.Arg47Lys Polymorphism rs946448 - CYBA P13498 VAR_005122 p.Tyr72His Polymorphism rs4673 - CYBA P13498 VAR_005123 p.Arg90Gln Disease - Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_005124 p.His94Arg Disease - Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_005125 p.Ser118Arg Disease rs104894514 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_005126 p.Pro156Gln Disease - Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_012755 p.Gly24Arg Disease rs28941476 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_054801 p.Val174Ala Polymorphism rs1049254 - CYBA P13498 VAR_060576 p.Gly25Val Disease rs179363891 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_060577 p.Leu52Pro Disease rs179363890 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_060578 p.Glu53Val Disease rs179363893 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_060579 p.Arg90Trp Disease rs179363892 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_060580 p.Ala124Val Disease rs179363894 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_060581 p.Ala125Thr Disease - Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] CYBA P13498 VAR_060582 p.Glu171Gly Polymorphism rs72667005 - CYBA P13498 VAR_060583 p.Glu193Asp Polymorphism - - CYBB P04839 VAR_002432 p.His101Arg Disease rs137854591 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_002433 p.Ala156Thr Disease rs137854590 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_002434 p.His209Tyr Disease rs137854587 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_002435 p.Glu225Val Disease rs151344494 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_002436 p.Cys244Ser Disease rs137854589 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_002437 p.Cys244Tyr Disease rs137854589 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_002438 p.Pro339His Disease rs151344470 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_002439 p.Gly389Ala Disease rs137854586 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_002440 p.Pro415His Disease rs137854585 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_002441 p.Asp500Gly Disease rs137854593 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007873 p.Gly20Arg Disease rs151344455 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007874 p.Arg54Ser Disease rs151344456 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007875 p.Cys59Arg Disease rs151344457 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007876 p.His101Tyr Disease rs137854594 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007877 p.His119Arg Disease rs151344458 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007878 p.His209Gln Disease rs151344459 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007880 p.His222Asn Disease rs151344460 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007881 p.His222Arg Disease rs151344462 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007882 p.His222Tyr Disease rs151344460 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007883 p.Gly223Leu Disease rs151344463 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007884 p.Cys244Arg Disease rs151344465 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007885 p.Glu309Lys Disease rs151344466 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007886 p.Gly322Glu Disease rs151344467 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007887 p.Ile325Phe Disease rs151344468 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007888 p.Ser333Pro Disease rs151344469 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007889 p.Arg356Pro Disease rs151344471 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007890 p.Met405Arg Disease rs151344472 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007891 p.Gly408Glu Disease rs151344474 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007892 p.Gly408Arg Disease rs151344473 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007893 p.Pro415Leu Disease rs137854585 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007894 p.Ser422Pro Disease rs151344475 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007895 p.Trp453Arg Disease rs151344476 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007896 p.Trp516Cys Disease rs151344477 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007897 p.Val534Asp Disease rs151344478 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_007898 p.Cys537Arg Disease rs151344454 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_008845 p.Ala57Glu Disease rs151344481 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_016880 p.His303Asn Disease rs137854595 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_016881 p.Pro304Arg Disease rs137854596 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025613 p.Tyr41Asp Disease rs151344453 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025614 p.Arg54Met Disease rs151344479 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025615 p.Ala55Asp Disease rs151344480 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025616 p.His209Arg Disease rs151344482 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025617 p.Ala224Gly Disease rs151344483 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025618 p.His338Tyr Disease rs151344484 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025619 p.Ser344Phe Disease rs151344485 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025620 p.Gly364Arg Polymorphism rs141756032 - CYBB P04839 VAR_025621 p.Gly389Glu Disease rs137854586 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025622 p.Leu420Pro Disease rs151344486 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025623 p.Trp516Arg Disease rs151344487 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_025624 p.Asp517Glu Polymorphism rs151344452 - CYBB P04839 VAR_047264 p.Trp18Cys Disease - Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_047266 p.Cys59Trp Disease rs151344488 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_047267 p.Gly179Arg Disease rs151344491 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_047268 p.Ser193Phe Disease rs151344493 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_047269 p.Phe205Ile Disease rs151344496 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_047271 p.Thr307Pro Disease rs151344489 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_047273 p.Leu342Gln Disease rs151344495 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_047274 p.Gly472Ser Polymorphism rs13306300 - CYBB P04839 VAR_047275 p.Leu505Arg Disease rs151344490 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_047276 p.Leu546Pro Disease rs151344492 Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] CYBB P04839 VAR_065365 p.Thr178Pro Disease rs151344497 Mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645] CYBB P04839 VAR_065366 p.Gln231Pro Disease rs151344498 Mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645] CYBRD1 Q53TN4 VAR_038065 p.Met156Thr Polymorphism rs16859487 - CYBRD1 Q53TN4 VAR_038066 p.Arg226His Polymorphism rs62181680 - CYBRD1 Q53TN4 VAR_038067 p.Ser266Asn Polymorphism rs10455 - CYC1 P08574 VAR_013631 p.Leu89Val Polymorphism - - CYC1 P08574 VAR_025163 p.Met76Val Polymorphism rs7820984 - CYCS P99999 VAR_002204 p.Met66Leu Unclassified - - CYCS P99999 VAR_044450 p.Gly42Ser Disease - Thrombocytopenia type 4 (THC4) [MIM:612004] CYCS P99999 VAR_048850 p.Lys56Arg Polymorphism rs11548795 - CYFIP1 Q7L576 VAR_053849 p.Ala532Pro Polymorphism rs34683919 - CYFIP1 Q7L576 VAR_053850 p.Gly820Asp Polymorphism rs17137190 - CYFIP1 Q7L576 VAR_053851 p.Gly820Ser Polymorphism rs7170637 - CYFIP2 Q96F07 VAR_030953 p.Lys320Glu Polymorphism rs3207362 - CYLC1 P35663 VAR_050937 p.Asp399His Polymorphism rs12008888 - CYLC2 Q14093 VAR_020100 p.Lys190Glu Polymorphism rs2298050 - CYLC2 Q14093 VAR_020101 p.Gly208Asp Polymorphism rs2298051 - CYLC2 Q14093 VAR_020102 p.Ala319Glu Polymorphism rs3763636 - CYLC2 Q14093 VAR_050938 p.Asp146Tyr Polymorphism rs13293961 - CYLC2 Q14093 VAR_050939 p.Gly184Asp Polymorphism rs10990424 - CYLD Q9NQC7 VAR_045967 p.Glu747Gly Disease - Brooke-Spiegler syndrome (BRSS) [MIM:605041] CYLD Q9NQC7 VAR_045967 p.Glu747Gly Disease - Multiple familial trichoepithelioma type 1 (MFT1) [MIM:601606] CYP11A1 P05108 VAR_013944 p.Glu314Lys Polymorphism rs6161 - CYP11A1 P05108 VAR_016949 p.Ala189Val Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_016951 p.Arg353Trp Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_065241 p.Leu141Trp Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_065242 p.Leu222Pro Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_065243 p.Ala359Val Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] CYP11A1 P05108 VAR_065244 p.Val415Glu Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] CYP11B1 P15538 VAR_001260 p.Pro42Ser Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001261 p.Asn133His Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001262 p.Thr318Met Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001263 p.Thr319Met Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001264 p.Arg374Gln Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_001265 p.Arg448His Disease rs28934586 Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_008687 p.Phe494Cys Polymorphism - - CYP11B1 P15538 VAR_014145 p.Cys10Tyr Polymorphism rs6405 - CYP11B1 P15538 VAR_014146 p.Arg43Gln Polymorphism rs4534 - CYP11B1 P15538 VAR_014147 p.Met160Ile Polymorphism rs5287 - CYP11B1 P15538 VAR_014148 p.Leu293Val Polymorphism rs5292 - CYP11B1 P15538 VAR_014149 p.Ala348Thr Polymorphism rs6407 - CYP11B1 P15538 VAR_014150 p.Ala386Val Polymorphism rs4541 - CYP11B1 P15538 VAR_014638 p.Asp63His Polymorphism rs5282 - CYP11B1 P15538 VAR_014639 p.Lys173Arg Polymorphism rs4539 - CYP11B1 P15538 VAR_014640 p.Phe257Leu Polymorphism rs5288 - CYP11B1 P15538 VAR_014641 p.Ser281Asn Polymorphism rs5291 - CYP11B1 P15538 VAR_014642 p.Tyr439His Polymorphism rs5294 - CYP11B1 P15538 VAR_048462 p.Thr248Ile Polymorphism rs34620645 - CYP11B1 P15538 VAR_048463 p.Arg404His Polymorphism rs4998896 - CYP11B1 P15538 VAR_065196 p.Gly379Val Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_065197 p.Arg454Cys Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_065666 p.Pro94Leu Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B1 P15538 VAR_065667 p.Thr318Arg Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010] CYP11B2 P19099 VAR_001266 p.Lys173Arg Polymorphism rs4539 - CYP11B2 P19099 VAR_001267 p.Arg181Trp Disease rs28931609 Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP11B2 P19099 VAR_001268 p.Glu198Asp Disease - Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP11B2 P19099 VAR_001269 p.Val386Ala Disease rs4541 Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP11B2 P19099 VAR_014151 p.Ala29Thr Polymorphism rs6438 - CYP11B2 P19099 VAR_014152 p.Arg30Gln Polymorphism rs6441 - CYP11B2 P19099 VAR_014153 p.Ile248Thr Polymorphism rs4547 - CYP11B2 P19099 VAR_014154 p.Asn281Ser Polymorphism rs4537 - CYP11B2 P19099 VAR_014155 p.Ile339Thr Polymorphism rs4544 - CYP11B2 P19099 VAR_014156 p.Gly435Ser Polymorphism rs4545 - CYP11B2 P19099 VAR_014643 p.Asn222Thr Polymorphism rs5308 - CYP11B2 P19099 VAR_014644 p.Glu383Val Polymorphism rs5312 - CYP11B2 P19099 VAR_014645 p.Val403Glu Polymorphism rs5315 - CYP11B2 P19099 VAR_014646 p.Phe487Val Polymorphism rs5317 - CYP11B2 P19099 VAR_018471 p.Thr185Ile Disease - Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP11B2 P19099 VAR_018472 p.Leu461Pro Disease - Corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency) [MIM:203400] CYP11B2 P19099 VAR_018473 p.Thr498Ala Disease - Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] CYP17A1 P05093 VAR_001271 p.Tyr64Ser Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001272 p.Ser106Pro Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001274 p.Pro342Thr Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001275 p.Arg347His Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001276 p.Arg358Gln Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001277 p.His373Leu Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001278 p.Arg440His Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_001280 p.Arg496Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_011755 p.Cys22Trp Polymorphism rs762563 - CYP17A1 P05093 VAR_013147 p.Phe93Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022745 p.Pro35Leu Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022746 p.Arg96Trp Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022747 p.Phe114Val Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022748 p.Asp116Val Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022749 p.Asn177Asp Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022750 p.Tyr329Asp Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022752 p.Arg347Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022753 p.Arg362Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022754 p.Trp406Arg Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022755 p.Phe417Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022756 p.Pro428Leu Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP17A1 P05093 VAR_022757 p.Arg496His Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110] CYP19A1 P11511 VAR_016962 p.Arg365Gln Disease - Aromatase deficiency (AROD) [MIM:613546] CYP19A1 P11511 VAR_016963 p.Arg375Cys Disease - Aromatase deficiency (AROD) [MIM:613546] CYP19A1 P11511 VAR_016964 p.Arg435Cys Disease - Aromatase deficiency (AROD) [MIM:613546] CYP19A1 P11511 VAR_016965 p.Cys437Tyr Disease - Aromatase deficiency (AROD) [MIM:613546] CYP19A1 P11511 VAR_018406 p.Arg264Cys Polymorphism rs700519 - CYP19A1 P11511 VAR_023428 p.Trp39Arg Polymorphism rs2236722 - CYP19A1 P11511 VAR_023429 p.Thr201Met Polymorphism rs28757184 - CYP19A1 P11511 VAR_054152 p.Arg375Leu Polymorphism - - CYP1A1 P04798 VAR_001243 p.Ile462Val Polymorphism rs1048943 - CYP1A1 P04798 VAR_008342 p.Thr461Asn Polymorphism rs1799814 - CYP1A1 P04798 VAR_009280 p.Arg279Trp Polymorphism rs34260157 - CYP1A1 P04798 VAR_016937 p.Met331Ile Polymorphism rs56313657 - CYP1A1 P04798 VAR_016938 p.Ile448Asn Polymorphism - - CYP1A1 P04798 VAR_016939 p.Arg464Cys Polymorphism - - CYP1A1 P04798 VAR_016940 p.Arg464Ser Polymorphism rs41279188 - CYP1A1 P04798 VAR_016941 p.Arg477Trp Polymorphism rs56240201 - CYP1A1 P04798 VAR_016942 p.Pro492Arg Polymorphism rs28399430 - CYP1A1 P04798 VAR_020122 p.Ile286Thr Polymorphism rs4987133 - CYP1A1 P04798 VAR_023194 p.Gly45Asp Polymorphism rs4646422 - CYP1A1 P04798 VAR_023195 p.Ile78Thr Polymorphism rs17861094 - CYP1A1 P04798 VAR_024706 p.Arg93Trp Polymorphism rs2229150 - CYP1A1 P04798 VAR_024707 p.Thr173Arg Polymorphism rs28399427 - CYP1A1 P04798 VAR_024708 p.Val482Met Polymorphism rs28399429 - CYP1A1 P04798 VAR_033817 p.Met66Val Polymorphism rs35035798 - CYP1A1 P04798 VAR_033818 p.Phe470Val Polymorphism rs36121583 - CYP1A2 P05177 VAR_008349 p.Phe21Leu Polymorphism rs56160784 - CYP1A2 P05177 VAR_020793 p.Asp348Asn Polymorphism rs56276455 - CYP1A2 P05177 VAR_020794 p.Ile386Phe Polymorphism - - CYP1A2 P05177 VAR_020795 p.Cys406Tyr Polymorphism rs55889066 - CYP1A2 P05177 VAR_020796 p.Arg431Trp Polymorphism rs28399424 - CYP1A2 P05177 VAR_020848 p.Thr83Met Polymorphism - - CYP1A2 P05177 VAR_020849 p.Glu168Gln Polymorphism - - CYP1A2 P05177 VAR_020850 p.Phe186Leu Polymorphism - - CYP1A2 P05177 VAR_020851 p.Ser212Cys Polymorphism - - CYP1A2 P05177 VAR_020852 p.Gly299Ser Polymorphism rs35796837 - CYP1A2 P05177 VAR_020853 p.Thr438Ile Polymorphism rs45486893 - CYP1A2 P05177 VAR_023196 p.Ser18Cys Polymorphism rs17861152 - CYP1A2 P05177 VAR_024709 p.Ser298Arg Polymorphism rs17861157 - CYP1A2 P05177 VAR_024710 p.Ile314Val Polymorphism rs28399418 - CYP1A2 P05177 VAR_025182 p.Pro42Arg Polymorphism - - CYP1A2 P05177 VAR_025183 p.Gly73Arg Polymorphism rs45565238 - CYP1A2 P05177 VAR_025184 p.Asp104Asn Polymorphism rs34067076 - CYP1A2 P05177 VAR_025185 p.Leu111Phe Polymorphism rs45442197 - CYP1A2 P05177 VAR_025186 p.Phe205Val Polymorphism rs45540640 - CYP1A2 P05177 VAR_025187 p.Arg281Trp Polymorphism rs45468096 - CYP1A2 P05177 VAR_025188 p.Arg377Gln Polymorphism - - CYP1A2 P05177 VAR_025189 p.Arg456His Polymorphism - - CYP1A2 P05177 VAR_055563 p.Arg457Trp Polymorphism rs34151816 - CYP1B1 Q16678 VAR_001244 p.Gly61Glu Disease rs28936700 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_001244 p.Gly61Glu Disease rs28936700 Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_001245 p.Gly365Trp Disease rs55771538 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_001246 p.Asp374Asn Disease rs28936413 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_001247 p.Arg469Trp Disease rs28936701 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_001248 p.Leu432Val Polymorphism rs1056836 - CYP1B1 Q16678 VAR_008350 p.Trp57Cys Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_008351 p.Pro379Leu Polymorphism rs56305281 - CYP1B1 Q16678 VAR_008352 p.Glu387Lys Disease rs55989760 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_008352 p.Glu387Lys Disease rs55989760 Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_008353 p.Arg390His Disease rs56010818 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_008354 p.Pro437Leu Disease rs56175199 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_008355 p.Asn453Ser Polymorphism rs1800440 - CYP1B1 Q16678 VAR_011752 p.Arg48Gly Polymorphism rs10012 - CYP1B1 Q16678 VAR_011753 p.Ala119Ser Polymorphism rs1056827 - CYP1B1 Q16678 VAR_016034 p.Arg368His Disease rs28936414 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_018774 p.Ala443Gly Disease rs4986888 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_018774 p.Ala443Gly Disease rs4986888 Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_018869 p.Ser206Asn Polymorphism rs9341248 - CYP1B1 Q16678 VAR_018870 p.Arg266Leu Polymorphism rs9341250 - CYP1B1 Q16678 VAR_028735 p.Gln68Arg Polymorphism rs9282670 - CYP1B1 Q16678 VAR_028736 p.Tyr81Asn Disease rs9282671 Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_028737 p.Asp441His Polymorphism rs4986887 - CYP1B1 Q16678 VAR_028738 p.Asp449Glu Polymorphism rs1056837 - CYP1B1 Q16678 VAR_054227 p.Ser28Trp Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_054228 p.Pro52Leu Polymorphism - - CYP1B1 Q16678 VAR_054229 p.Leu77Pro Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054230 p.Ala115Pro Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054231 p.Met132Arg Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054232 p.Gln144His Polymorphism - - CYP1B1 Q16678 VAR_054233 p.Gln144Pro Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054234 p.Gln144Arg Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054235 p.Arg145Trp Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_054236 p.Gly184Ser Polymorphism - - CYP1B1 Q16678 VAR_054237 p.Ala189Pro Unclassified - - CYP1B1 Q16678 VAR_054238 p.Asp192Val Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054239 p.Pro193Leu Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054240 p.Val198Ile Disease rs59472972 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054241 p.Asn203Ser Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054242 p.Ser215Ile Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054243 p.Glu229Lys Disease rs57865060 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054243 p.Glu229Lys Disease rs57865060 Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_054244 p.Gly232Arg Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054244 p.Gly232Arg Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_054245 p.Ser239Arg Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054247 p.Val320Leu Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054248 p.Ala330Phe Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054249 p.Ala330Ser Unclassified - - CYP1B1 Q16678 VAR_054251 p.Leu345Phe Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_054253 p.Val364Met Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054254 p.Ala388Thr Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054255 p.Arg390Cys Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054256 p.Arg390Ser Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054257 p.Ile399Ser Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054258 p.Val409Phe Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_054259 p.Val422Gly Polymorphism - - CYP1B1 Q16678 VAR_054260 p.Asn423Tyr Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054260 p.Asn423Tyr Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_054261 p.Arg444Gln Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054262 p.Phe445Cys Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054263 p.Gly466Asp Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054264 p.Glu499Gly Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] CYP1B1 Q16678 VAR_054265 p.Ser515Leu Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_054266 p.Val518Ala Polymorphism - - CYP1B1 Q16678 VAR_054267 p.Arg523Thr Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP1B1 Q16678 VAR_054268 p.Asp530Gly Disease - Primary open angle glaucoma (POAG) [MIM:137760] CYP20A1 Q6UW02 VAR_059153 p.Ser97Leu Polymorphism rs2043449 - CYP20A1 Q6UW02 VAR_059154 p.Leu346Phe Polymorphism rs1048013 - CYP21A2 P08686 VAR_001281 p.Pro30Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001282 p.Lys98Arg Polymorphism - - CYP21A2 P08686 VAR_001283 p.Lys102Arg Polymorphism - - CYP21A2 P08686 VAR_001284 p.Pro105Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001285 p.Cys169Tyr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001286 p.Ile172Asn Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001287 p.Asp183Glu Polymorphism rs1040310 - CYP21A2 P08686 VAR_001288 p.Ile236Asn Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001289 p.Val237Glu Disease rs12530380 Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001290 p.Met239Lys Disease rs6476 Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001291 p.Ser268Thr Polymorphism rs6472 - CYP21A2 P08686 VAR_001292 p.Val281Leu Disease rs6471 Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001293 p.Gly291Ser Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001294 p.Arg339His Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001295 p.Arg341Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001296 p.Arg356Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001297 p.Arg356Gln Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001298 p.Arg356Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001299 p.Glu380Asp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001300 p.Pro453Ser Disease rs6445 Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001301 p.Arg483Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_001302 p.Asn493Ser Polymorphism rs6473 - CYP21A2 P08686 VAR_007923 p.Gly64Glu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_007924 p.Ala362Val Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018364 p.His62Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018365 p.Gly291Arg Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018366 p.Ser301Tyr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018367 p.Arg341Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_018368 p.Arg483Gln Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026059 p.Ala15Thr Disease rs63749090 Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026060 p.Pro30Gln Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026061 p.Gly90Val Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026062 p.Arg124His Disease rs72552750 Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026063 p.Gly178Ala Disease rs72552751 Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026064 p.Val211Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026065 p.Leu261Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026066 p.Val281Gly Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026067 p.Met283Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026068 p.Gly291Cys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026069 p.Leu300Phe Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026070 p.Val304Met Unclassified - - CYP21A2 P08686 VAR_026071 p.Leu317Met Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026072 p.Arg354Cys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026073 p.Arg354His Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026074 p.Leu363Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026075 p.His365Tyr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026076 p.Gly375Ser Unclassified - - CYP21A2 P08686 VAR_026077 p.Arg408Cys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026078 p.Gly424Ser Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026079 p.Arg426His Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026080 p.Arg435Cys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026081 p.Arg479Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026082 p.Pro482Ser Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_026083 p.Arg483Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065668 p.Gly56Arg Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065669 p.Ile77Thr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065670 p.Leu107Arg Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065671 p.Lys121Gln Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065672 p.Leu142Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065673 p.Leu167Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065674 p.Ile230Thr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065675 p.Arg233Lys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065676 p.Gly292Asp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065677 p.Glu320Lys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP21A2 P08686 VAR_065678 p.Arg369Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910] CYP24A1 Q07973 VAR_048464 p.Arg157Gln Polymorphism rs35051736 - CYP24A1 Q07973 VAR_048465 p.Met374Thr Polymorphism rs6022990 - CYP24A1 Q07973 VAR_048466 p.Leu409Ser Disease rs6068812 Hypercalcemia infantile (HCAI) [MIM:143880] CYP26B1 Q9NR63 VAR_024383 p.Leu264Ser Polymorphism rs2241057 - CYP26B1 Q9NR63 VAR_038722 p.Val181Met Polymorphism - - CYP26B1 Q9NR63 VAR_038723 p.Ala185Val Polymorphism - - CYP26B1 Q9NR63 VAR_038724 p.Arg191His Polymorphism - - CYP26B1 Q9NR63 VAR_038725 p.Asp227Asn Polymorphism - - CYP26B1 Q9NR63 VAR_038726 p.Glu380Lys Polymorphism rs2286965 - CYP26B1 Q9NR63 VAR_038727 p.Ala420Gly Polymorphism rs7568553 - CYP26B1 Q9NR63 VAR_038728 p.Arg473Cys Polymorphism - - CYP26B1 Q9NR63 VAR_038729 p.Val479Ile Polymorphism - - CYP26C1 Q6V0L0 VAR_022886 p.Arg245Gln Polymorphism rs11187265 - CYP27A1 Q02318 VAR_001303 p.Arg395Cys Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_001304 p.Arg479Cys Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_012285 p.Arg395Ser Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_012286 p.Arg405Gln Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_012287 p.Arg474Gln Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_012288 p.Arg474Trp Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_016966 p.Gly145Glu Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700] CYP27A1 Q02318 VAR_048467 p.Thr175Met Polymorphism rs2229381 - CYP27A1 Q02318 VAR_061046 p.Ala169Val Polymorphism rs59443548 - CYP27B1 O15528 VAR_016952 p.Arg107His Disease rs28934604 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016953 p.Gly125Glu Disease rs28934605 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016954 p.Glu189Gly Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016955 p.Thr321Arg Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016956 p.Arg335Pro Disease rs28934606 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016957 p.Leu343Phe Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016958 p.Pro382Ser Disease rs28934607 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016959 p.Arg389His Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016960 p.Arg389Gly Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016961 p.Thr409Ile Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016967 p.Glu189Lys Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016968 p.Arg389Cys Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016969 p.Gln65His Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016970 p.Ser323Tyr Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016971 p.Arg429Pro Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016972 p.Arg453Cys Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016973 p.Val478Gly Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_016974 p.Pro497Arg Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] CYP27B1 O15528 VAR_018841 p.Val166Leu Polymorphism rs8176344 - CYP27C1 Q4G0S4 VAR_033120 p.Thr359Met Polymorphism rs35075135 - CYP2A13 Q16696 VAR_013835 p.Arg257Cys Polymorphism rs8192789 - CYP2A13 Q16696 VAR_018334 p.Arg25Gln Polymorphism rs8192784 - CYP2A13 Q16696 VAR_018335 p.Arg101Gln Polymorphism - - CYP2A13 Q16696 VAR_018337 p.Asp158Glu Polymorphism - - CYP2A13 Q16696 VAR_018338 p.Phe453Tyr Polymorphism - - CYP2A13 Q16696 VAR_018339 p.Arg494Cys Polymorphism - - CYP2A13 Q16696 VAR_018356 p.Val323Leu Polymorphism - - CYP2A6 P11509 VAR_001249 p.Leu160His Polymorphism rs1801272 - CYP2A6 P11509 VAR_008356 p.Gly479Val Polymorphism rs5031017 - CYP2A6 P11509 VAR_011577 p.Arg128Gln Polymorphism rs4986891 - CYP2A6 P11509 VAR_011578 p.Ile471Thr Polymorphism rs5031016 - CYP2A6 P11509 VAR_011579 p.Arg485Leu Polymorphism rs28399468 - CYP2A6 P11509 VAR_018330 p.Gly5Arg Polymorphism rs28399434 - CYP2A6 P11509 VAR_018331 p.Ser29Asn Polymorphism rs28399435 - CYP2A6 P11509 VAR_018332 p.Lys194Glu Polymorphism - - CYP2A6 P11509 VAR_018333 p.Arg203Ser Polymorphism rs56256500 - CYP2A6 P11509 VAR_018375 p.Glu419Asp Polymorphism rs8192730 - CYP2A6 P11509 VAR_024711 p.Phe118Leu Polymorphism rs28399440 - CYP2A6 P11509 VAR_024712 p.Ser224Pro Polymorphism - - CYP2A6 P11509 VAR_024713 p.Val365Met Polymorphism rs28399454 - CYP2A6 P11509 VAR_024714 p.Asn418Asp Polymorphism rs28399463 - CYP2A6 P11509 VAR_024715 p.Lys476Arg Polymorphism rs6413474 - CYP2A6 P11509 VAR_048448 p.Thr294Ser Polymorphism rs4997557 - CYP2A6 P11509 VAR_055033 p.Phe392Tyr Polymorphism rs1809810 - CYP2A6 P11509 VAR_055034 p.Arg203Cys Polymorphism - - CYP2A6 P11509 VAR_055035 p.Val110Leu Polymorphism - - CYP2A6 P11509 VAR_055036 p.Arg128Leu Polymorphism - - CYP2A6 P11509 VAR_055037 p.Ser131Ala Polymorphism rs59552350 - CYP2A6 P11509 VAR_055038 p.Asn438Tyr Polymorphism - - CYP2A6 P11509 VAR_059149 p.Val292Met Polymorphism rs2644906 - CYP2A7 P20853 VAR_047815 p.Phe61Ile Polymorphism rs10425176 - CYP2A7 P20853 VAR_047816 p.Cys64Arg Polymorphism rs10425169 - CYP2A7 P20853 VAR_047817 p.His274Arg Polymorphism rs4079366 - CYP2A7 P20853 VAR_047818 p.Ala301Gly Polymorphism rs2545754 - CYP2A7 P20853 VAR_047819 p.Arg311Cys Polymorphism rs3869579 - CYP2A7 P20853 VAR_047820 p.Met368Thr Polymorphism rs2261144 - CYP2A7 P20853 VAR_061043 p.Asp169Glu Polymorphism rs4142867 - CYP2A7 P20853 VAR_061044 p.Val479Gly Polymorphism rs12460590 - CYP2B6 P20813 VAR_016924 p.Pro167Ala Polymorphism rs3826711 - CYP2B6 P20813 VAR_016925 p.Gln172His Polymorphism rs3745274 - CYP2B6 P20813 VAR_016926 p.Lys262Arg Polymorphism rs2279343 - CYP2B6 P20813 VAR_016927 p.Arg22Cys Polymorphism rs8192709 - CYP2B6 P20813 VAR_016928 p.Ser259Arg Polymorphism rs45482602 - CYP2B6 P20813 VAR_016929 p.Arg487Cys Polymorphism rs3211371 - CYP2B6 P20813 VAR_016948 p.Lys139Glu Polymorphism - - CYP2B6 P20813 VAR_023563 p.Gln21Leu Polymorphism rs34883432 - CYP2B6 P20813 VAR_023564 p.Met46Val Polymorphism rs35303484 - CYP2B6 P20813 VAR_023565 p.Gly99Glu Polymorphism rs36060847 - CYP2B6 P20813 VAR_023566 p.Arg140Gln Polymorphism rs35773040 - CYP2B6 P20813 VAR_023567 p.Ile391Asn Polymorphism rs35979566 - CYP2B6 P20813 VAR_024716 p.Ile328Thr Polymorphism rs28399499 - CYP2B6 P20813 VAR_025206 p.Thr26Ser Polymorphism rs33973337 - CYP2B6 P20813 VAR_025207 p.Asp28Gly Polymorphism rs33980385 - CYP2B6 P20813 VAR_025208 p.Arg29Ser Polymorphism rs33926104 - CYP2B6 P20813 VAR_025209 p.Asn289Lys Polymorphism rs34277950 - CYP2B6 P20813 VAR_025210 p.Thr306Ser Polymorphism rs34698757 - CYP2B6 P20813 VAR_033819 p.Arg29Pro Polymorphism rs34284776 - CYP2C18 P33260 VAR_001254 p.Thr385Met Polymorphism rs2281891 - CYP2C19 P33261 VAR_001255 p.Val331Ile Polymorphism rs3758581 - CYP2C19 P33261 VAR_008357 p.Trp120Arg Polymorphism rs41291556 - CYP2C19 P33261 VAR_008358 p.Arg132Gln Polymorphism - - CYP2C19 P33261 VAR_008359 p.Arg433Trp Polymorphism rs56337013 - CYP2C19 P33261 VAR_020123 p.Pro227Leu Polymorphism rs6413438 - CYP2C19 P33261 VAR_021268 p.Leu17Pro Polymorphism rs55752064 - CYP2C19 P33261 VAR_021269 p.Ile19Leu Polymorphism rs17882687 - CYP2C19 P33261 VAR_021270 p.Glu92Asp Polymorphism rs17878459 - CYP2C19 P33261 VAR_021271 p.Glu122Ala Polymorphism rs17885179 - CYP2C19 P33261 VAR_021272 p.Arg144His Polymorphism rs17884712 - CYP2C19 P33261 VAR_021273 p.Arg150His Polymorphism rs58973490 - CYP2C19 P33261 VAR_021274 p.Arg410Cys Polymorphism rs17879685 - CYP2C19 P33261 VAR_021275 p.Arg442Cys Polymorphism - - CYP2C19 P33261 VAR_024083 p.Ser51Gly Polymorphism - - CYP2C19 P33261 VAR_024084 p.Ala161Pro Polymorphism - - CYP2C19 P33261 VAR_024085 p.Arg329His Polymorphism - - CYP2C19 P33261 VAR_024718 p.Met74Thr Polymorphism rs28399505 - CYP2C19 P33261 VAR_024719 p.Phe168Leu Polymorphism rs28399510 - CYP2C8 P10632 VAR_001250 p.Glu154Asp Unclassified - - CYP2C8 P10632 VAR_001251 p.Asn193Lys Unclassified - - CYP2C8 P10632 VAR_001252 p.Lys249Arg Unclassified - - CYP2C8 P10632 VAR_001253 p.His411Leu Unclassified - - CYP2C8 P10632 VAR_011754 p.Ile264Met Polymorphism rs1058930 - CYP2C8 P10632 VAR_012238 p.Arg139Lys Polymorphism rs11572080 - CYP2C8 P10632 VAR_012239 p.Ile269Phe Polymorphism rs11572103 - CYP2C8 P10632 VAR_012240 p.Lys399Arg Polymorphism rs10509681 - CYP2C8 P10632 VAR_016947 p.Leu390Ser Polymorphism - - CYP2C8 P10632 VAR_018958 p.Ile244Val Polymorphism rs11572102 - CYP2C9 P11712 VAR_008343 p.Arg144Cys Polymorphism rs1799853 - CYP2C9 P11712 VAR_008344 p.Tyr358Cys Polymorphism rs1057909 - CYP2C9 P11712 VAR_008345 p.Ile359Leu Polymorphism rs1057910 - CYP2C9 P11712 VAR_008346 p.Gly417Asp Polymorphism - - CYP2C9 P11712 VAR_013515 p.Ile359Thr Polymorphism rs56165452 - CYP2C9 P11712 VAR_013516 p.Asp360Glu Polymorphism rs28371686 - CYP2C9 P11712 VAR_018862 p.Leu19Ile Polymorphism - - CYP2C9 P11712 VAR_018863 p.Arg150His Polymorphism rs7900194 - CYP2C9 P11712 VAR_018864 p.His251Arg Polymorphism rs2256871 - CYP2C9 P11712 VAR_018865 p.Glu272Gly Polymorphism rs9332130 - CYP2C9 P11712 VAR_018866 p.Arg335Trp Polymorphism rs28371685 - CYP2C9 P11712 VAR_018867 p.Pro489Ser Polymorphism rs9332239 - CYP2C9 P11712 VAR_024717 p.Leu413Pro Polymorphism rs28371687 - CYP2D6 P10635 VAR_001256 p.Gly42Arg Polymorphism rs5030862 - CYP2D6 P10635 VAR_008336 p.Pro34Ser Polymorphism rs1065852 - CYP2D6 P10635 VAR_008337 p.Thr107Ile Polymorphism rs28371706 - CYP2D6 P10635 VAR_008338 p.Gly169Arg Polymorphism - - CYP2D6 P10635 VAR_008339 p.Gly212Glu Polymorphism rs5030866 - CYP2D6 P10635 VAR_008340 p.Arg296Cys Polymorphism rs16947 - CYP2D6 P10635 VAR_008341 p.Ser486Thr Polymorphism rs1135840 - CYP2D6 P10635 VAR_008348 p.His324Pro Polymorphism rs5030867 - CYP2D6 P10635 VAR_008366 p.Val11Met Polymorphism rs769258 - CYP2D6 P10635 VAR_008367 p.Arg26His Polymorphism rs28371696 - CYP2D6 P10635 VAR_008368 p.Arg28Cys Polymorphism - - CYP2D6 P10635 VAR_008369 p.Ala85Val Polymorphism - - CYP2D6 P10635 VAR_008370 p.Ala237Ser Polymorphism rs28371717 - CYP2D6 P10635 VAR_008371 p.Ile297Leu Polymorphism - - CYP2D6 P10635 VAR_008372 p.Arg343Gly Polymorphism - - CYP2D6 P10635 VAR_008373 p.Ile369Thr Polymorphism - - CYP2D6 P10635 VAR_008374 p.Glu410Lys Polymorphism - - CYP2D6 P10635 VAR_014633 p.Ser311Leu Polymorphism rs1800754 - CYP2D6 P10635 VAR_024720 p.Leu91Met Polymorphism rs28371703 - CYP2D6 P10635 VAR_024721 p.His94Arg Polymorphism rs28371704 - CYP2D6 P10635 VAR_024722 p.Phe120Ile Polymorphism rs1135822 - CYP2D6 P10635 VAR_024723 p.Glu155Lys Polymorphism rs28371710 - CYP2D6 P10635 VAR_024724 p.Glu418Lys Polymorphism - - CYP2D6 P10635 VAR_024725 p.Pro469Ala Polymorphism rs1135833 - CYP2D6 P10635 VAR_024726 p.His478Tyr Polymorphism rs28371735 - CYP2D6 P10635 VAR_045679 p.Leu231Pro Polymorphism rs17002853 - CYP2D6 P10635 VAR_045680 p.Ala300Gly Polymorphism rs1058170 - CYP2D6 P10635 VAR_045681 p.Arg365His Polymorphism rs1058172 - CYP2D6 P10635 VAR_059150 p.Arg329Leu Polymorphism rs3915951 - CYP2D6 P10635 VAR_059151 p.Gly373Ser Polymorphism rs2856959 - CYP2E1 P05181 VAR_008360 p.Arg76His Polymorphism - - CYP2E1 P05181 VAR_008361 p.Val179Ile Polymorphism rs6413419 - CYP2E1 P05181 VAR_008362 p.Val389Ile Polymorphism rs55897648 - CYP2E1 P05181 VAR_024727 p.His457Leu Polymorphism rs28969387 - CYP2E1 P05181 VAR_055382 p.Asn219Asp Polymorphism rs41299426 - CYP2E1 P05181 VAR_055383 p.Ser366Cys Polymorphism rs41299434 - CYP2F1 P24903 VAR_058863 p.Ser38Pro Polymorphism rs58285195 - CYP2F1 P24903 VAR_058864 p.Arg98Pro Polymorphism rs57670668 - CYP2F1 P24903 VAR_058865 p.Asp218Asn Polymorphism - - CYP2F1 P24903 VAR_058866 p.Gln266His Polymorphism - - CYP2F1 P24903 VAR_058867 p.Leu391Pro Polymorphism - - CYP2F1 P24903 VAR_058868 p.Pro490Leu Polymorphism rs7246981 - CYP2J2 P51589 VAR_014317 p.Thr143Ala Polymorphism rs55753213 - CYP2J2 P51589 VAR_014318 p.Arg158Cys Polymorphism rs56307989 - CYP2J2 P51589 VAR_014319 p.Ile192Asn Polymorphism - - CYP2J2 P51589 VAR_014320 p.Asp342Asn Polymorphism rs56053398 - CYP2J2 P51589 VAR_014321 p.Asn404Tyr Polymorphism - - CYP2J2 P51589 VAR_022084 p.Asn124Ser Polymorphism rs2228113 - CYP2J2 P51589 VAR_029159 p.Arg49Ser Polymorphism rs11572190 - CYP2J2 P51589 VAR_029160 p.Val113Met Polymorphism rs11572242 - CYP2R1 Q6VVX0 VAR_021534 p.Leu99Pro Disease rs61495246 Rickets vitamin D-dependent type 1B (VDDR1B) [MIM:600081] CYP2S1 Q96SQ9 VAR_033820 p.Pro466Leu Polymorphism rs34971233 - CYP2W1 Q8TAV3 VAR_027413 p.Ala181Thr Polymorphism rs3735684 - CYP39A1 Q9NYL5 VAR_031609 p.Arg23Pro Polymorphism rs12192544 - CYP39A1 Q9NYL5 VAR_031610 p.Arg103His Polymorphism rs2277119 - CYP39A1 Q9NYL5 VAR_031611 p.Tyr288His Polymorphism rs17856332 - CYP39A1 Q9NYL5 VAR_031612 p.Asn324Lys Polymorphism rs7761731 - CYP3A43 Q9HB55 VAR_018052 p.Pro340Ala Polymorphism rs680055 - CYP3A43 Q9HB55 VAR_048449 p.Thr27Ala Polymorphism rs45558032 - CYP3A43 Q9HB55 VAR_048450 p.Met145Ile Polymorphism rs45450092 - CYP3A43 Q9HB55 VAR_048451 p.Met275Ile Polymorphism rs45621431 - CYP3A4 P08684 VAR_008363 p.Ser222Pro Polymorphism rs55785340 - CYP3A4 P08684 VAR_008364 p.Met445Thr Polymorphism rs4986910 - CYP3A4 P08684 VAR_011597 p.Leu15Pro Polymorphism rs12721634 - CYP3A4 P08684 VAR_011598 p.Gly56Asp Polymorphism rs56324128 - CYP3A4 P08684 VAR_011599 p.Ile118Val Polymorphism rs55951658 - CYP3A4 P08684 VAR_011600 p.Arg130Gln Polymorphism - - CYP3A4 P08684 VAR_011601 p.Arg162Gln Polymorphism rs4986907 - CYP3A4 P08684 VAR_011602 p.Val170Ile Polymorphism - - CYP3A4 P08684 VAR_011603 p.Asp174His Polymorphism - - CYP3A4 P08684 VAR_011604 p.Thr185Ser Polymorphism rs12721627 - CYP3A4 P08684 VAR_011605 p.Pro218Arg Polymorphism rs55901263 - CYP3A4 P08684 VAR_011606 p.Thr363Met Polymorphism - - CYP3A4 P08684 VAR_011607 p.Leu373Phe Polymorphism rs12721629 - CYP3A4 P08684 VAR_011608 p.Pro416Leu Polymorphism rs4986909 - CYP3A4 P08684 VAR_014322 p.Phe189Ser Polymorphism rs4987161 - CYP3A4 P08684 VAR_014323 p.Leu293Pro Polymorphism rs28371759 - CYP3A4 P08684 VAR_014324 p.Pro467Ser Polymorphism rs4986913 - CYP3A4 P08684 VAR_037547 p.Lys96Glu Polymorphism rs3091339 - CYP3A4 P08684 VAR_037548 p.Ser252Ala Polymorphism rs3208363 - CYP3A4 P08684 VAR_037549 p.Thr349Asn Polymorphism rs10250778 - CYP3A4 P08684 VAR_037550 p.Ile431Thr Polymorphism rs1041988 - CYP3A5 P20815 VAR_008365 p.Thr398Asn Polymorphism rs28365083 - CYP3A5 P20815 VAR_024728 p.His30Tyr Polymorphism rs28383468 - CYP3A5 P20815 VAR_024729 p.Asp277Glu Polymorphism rs28383477 - CYP3A5 P20815 VAR_024730 p.Ala337Thr Polymorphism rs28383479 - CYP3A5 P20815 VAR_024731 p.Arg28Cys Polymorphism rs55817950 - CYP3A5 P20815 VAR_024732 p.Gln200Arg Polymorphism rs56411402 - CYP3A5 P20815 VAR_024733 p.Phe446Ser Polymorphism rs41279854 - CYP3A5 P20815 VAR_029161 p.Ile371Val Polymorphism rs28365092 - CYP3A5 P20815 VAR_029162 p.Ile488Thr Polymorphism rs28365085 - CYP3A7 P24462 VAR_020124 p.Arg409Thr Polymorphism rs2257401 - CYP3A7 P24462 VAR_055564 p.Val71Ala Polymorphism rs45580339 - CYP4A11 Q02928 VAR_019160 p.Phe434Ser Polymorphism rs1126742 - CYP4A11 Q02928 VAR_044377 p.Ser353Gly Polymorphism - - CYP4A11 Q02928 VAR_048452 p.Asn226Ser Polymorphism rs12759923 - CYP4A22 Q5TCH4 VAR_044349 p.Arg11Cys Polymorphism - - CYP4A22 Q5TCH4 VAR_044350 p.Lys121Arg Polymorphism rs2758717 - CYP4A22 Q5TCH4 VAR_044351 p.Arg126Trp Polymorphism rs12564525 - CYP4A22 Q5TCH4 VAR_044352 p.Gly130Ser Polymorphism rs2056900 - CYP4A22 Q5TCH4 VAR_044353 p.Asn152Tyr Polymorphism rs2056899 - CYP4A22 Q5TCH4 VAR_044354 p.Val185Phe Polymorphism - - CYP4A22 Q5TCH4 VAR_044355 p.Ser226Asn Polymorphism rs35202523 - CYP4A22 Q5TCH4 VAR_044356 p.Cys230Ser Polymorphism rs35156123 - CYP4A22 Q5TCH4 VAR_044357 p.Cys231Arg Polymorphism rs10789501 - CYP4A22 Q5TCH4 VAR_044358 p.Lys276Thr Polymorphism - - CYP4A22 Q5TCH4 VAR_044359 p.Leu428Pro Polymorphism rs2405599 - CYP4A22 Q5TCH4 VAR_044360 p.Met491Ile Polymorphism rs2758714 - CYP4A22 Q5TCH4 VAR_044361 p.Leu509Phe Polymorphism rs4926600 - CYP4A22 Q5TCH4 VAR_061045 p.Tyr104Phe Polymorphism rs61507155 - CYP4B1 P13584 VAR_018357 p.Arg173Trp Polymorphism rs4646487 - CYP4B1 P13584 VAR_018358 p.Ser322Gly Polymorphism rs45467195 - CYP4B1 P13584 VAR_018359 p.Met331Ile Polymorphism rs2297810 - CYP4B1 P13584 VAR_018360 p.Arg340Cys Polymorphism rs4646491 - CYP4B1 P13584 VAR_018361 p.Val345Ile Polymorphism - - CYP4B1 P13584 VAR_018362 p.Arg375Cys Polymorphism rs2297809 - CYP4B1 P13584 VAR_048453 p.Arg264Trp Polymorphism rs45446505 - CYP4B1 P13584 VAR_048454 p.Tyr329Ser Polymorphism rs12094024 - CYP4B1 P13584 VAR_048455 p.Phe354Cys Polymorphism rs17102592 - CYP4B1 P13584 VAR_048456 p.Arg482Gln Polymorphism rs45622937 - CYP4B1 P13584 VAR_055377 p.Ala111Val Polymorphism rs45559437 - CYP4B1 P13584 VAR_055378 p.Arg274Gln Polymorphism rs45578838 - CYP4F11 Q9HBI6 VAR_060265 p.Arg146Cys Polymorphism rs57519667 - CYP4F11 Q9HBI6 VAR_060266 p.Cys276Arg Polymorphism rs8104361 - CYP4F11 Q9HBI6 VAR_060267 p.Asp284Asn Polymorphism rs1060463 - CYP4F12 Q9HCS2 VAR_013244 p.Pro13Leu Polymorphism rs16995376 - CYP4F12 Q9HCS2 VAR_013245 p.Asn76Asp Polymorphism rs609636 - CYP4F12 Q9HCS2 VAR_013246 p.Ile90Val Polymorphism rs609290 - CYP4F12 Q9HCS2 VAR_013247 p.Cys188Arg Polymorphism rs2285888 - CYP4F12 Q9HCS2 VAR_048459 p.Thr16Met Polymorphism rs16995378 - CYP4F12 Q9HCS2 VAR_048460 p.Ser522Gly Polymorphism rs593818 - CYP4F22 Q6NT55 VAR_033118 p.Ser178Cys Polymorphism rs16980531 - CYP4F22 Q6NT55 VAR_033119 p.Lys505Gln Polymorphism rs7256787 - CYP4F22 Q6NT55 VAR_037441 p.Phe59Leu Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777] CYP4F22 Q6NT55 VAR_037442 p.Arg243His Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777] CYP4F22 Q6NT55 VAR_037443 p.Arg372Trp Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777] CYP4F22 Q6NT55 VAR_037444 p.His435Tyr Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777] CYP4F22 Q6NT55 VAR_037445 p.His436Asp Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777] CYP4F2 P78329 VAR_013116 p.Ser7Tyr Polymorphism rs3093104 - CYP4F2 P78329 VAR_013117 p.Trp12Gly Polymorphism rs3093105 - CYP4F2 P78329 VAR_013118 p.Gly185Val Polymorphism rs3093153 - CYP4F2 P78329 VAR_013119 p.Val433Met Polymorphism rs2108622 - CYP4F2 P78329 VAR_013120 p.Leu519Met Polymorphism rs3093200 - CYP4F2 P78329 VAR_020125 p.Ala269Asp Polymorphism rs1805040 - CYP4F3 Q08477 VAR_001258 p.Ala269Asp Polymorphism rs1805040 - CYP4F3 Q08477 VAR_020664 p.Val270Ile Polymorphism rs28371536 - CYP4F3 Q08477 VAR_020665 p.Ile271Thr Polymorphism rs28371479 - CYP4F3 Q08477 VAR_048457 p.His96Gln Polymorphism rs34923393 - CYP4F3 Q08477 VAR_048458 p.Tyr106Cys Polymorphism rs35888783 - CYP4F8 P98187 VAR_038347 p.Tyr125Phe Polymorphism rs2072600 - CYP4F8 P98187 VAR_038348 p.Pro447Gln Polymorphism rs2056822 - CYP4V2 Q6ZWL3 VAR_023084 p.Trp44Arg Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023085 p.Gly61Ser Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023086 p.Glu79Asp Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023087 p.Ile111Thr Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023088 p.Met123Val Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023089 p.His331Pro Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023090 p.Ser341Pro Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_023091 p.Arg508His Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] CYP4V2 Q6ZWL3 VAR_033821 p.Gln259Lys Polymorphism rs13146272 - CYP4V2 Q6ZWL3 VAR_038606 p.Leu22Val Polymorphism rs1055138 - CYP4V2 Q6ZWL3 VAR_038607 p.Ser213Asn Polymorphism rs34331648 - CYP4V2 Q6ZWL3 VAR_055379 p.Glu275Lys Polymorphism rs34745240 - CYP4V2 Q6ZWL3 VAR_055380 p.Val372Ile Polymorphism - - CYP4V2 Q6ZWL3 VAR_055381 p.Arg443Gln Polymorphism - - CYP4Z1 Q86W10 VAR_048461 p.Pro393Leu Polymorphism rs28463559 - CYP51A1 Q16850 VAR_023470 p.Val13Ala Polymorphism rs2229188 - CYP7A1 P22680 VAR_001259 p.Phe100Ser Polymorphism - - CYP7A1 P22680 VAR_018376 p.Asn233Ser Polymorphism rs8192874 - CYP7A1 P22680 VAR_018377 p.Asp347Asn Polymorphism rs8192875 - CYP7A1 P22680 VAR_059152 p.His86Asn Polymorphism rs62621283 - CYP7B1 O75881 VAR_044382 p.Gly57Arg Disease - Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_044383 p.Phe216Ser Disease - Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_044384 p.Ser363Phe Disease - Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800] CYP7B1 O75881 VAR_044385 p.Arg417His Disease - Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800] CYP8B1 Q9UNU6 VAR_010381 p.Arg234His Polymorphism - - CYP8B1 Q9UNU6 VAR_055102 p.Ser88Pro Polymorphism rs9865715 - CYP8B1 Q9UNU6 VAR_055103 p.Lys238Arg Polymorphism rs35764459 - CYP8B1 Q9UNU6 VAR_055104 p.Leu357Phe Polymorphism rs35637877 - CYR61 O00622 VAR_018934 p.Arg334Trp Polymorphism rs9658587 - CYSTM1 Q9H1C7 VAR_034629 p.Cys90Ser Polymorphism rs17852164 - CYTH4 Q9UIA0 VAR_051920 p.Met74Val Polymorphism rs16998061 - CYTIP O60759 VAR_023534 p.Asp37Asn Polymorphism rs1042038 - CYTIP O60759 VAR_051287 p.Gln83Glu Polymorphism rs2229345 - CYTIP O60759 VAR_064706 p.Pro329Ser Unclassified - - CYTL1 Q9NRR1 VAR_050940 p.Ser51Leu Polymorphism rs35755546 - CYTL1 Q9NRR1 VAR_050941 p.Arg136Cys Polymorphism rs11722554 - CYYR1 Q96J86 VAR_044042 p.Arg95His Polymorphism rs35253087 - CYYR1 Q96J86 VAR_044043 p.Pro111Ser Polymorphism - - D2HGDH Q8N465 VAR_025889 p.Arg15Gly Polymorphism rs4675887 - D2HGDH Q8N465 VAR_025890 p.Ile147Ser Disease - D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_025891 p.Asp375Tyr Disease - D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_025892 p.Gly436Val Polymorphism - - D2HGDH Q8N465 VAR_025893 p.Asn439Asp Disease - D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_025894 p.Val444Ala Disease - D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721] D2HGDH Q8N465 VAR_050433 p.Val338Ile Polymorphism rs1106639 - D2HGDH Q8N465 VAR_050434 p.Ala361Val Polymorphism rs1105273 - DAAM2 Q86T65 VAR_055805 p.Arg105His Polymorphism rs6919807 - DAAM2 Q86T65 VAR_055806 p.Arg617His Polymorphism rs34699846 - DAB1 O75553 VAR_056857 p.Val71Ile Polymorphism rs1855377 - DAB2IP Q5VWQ8 VAR_056858 p.Ser59Phe Polymorphism rs7027492 - DAB2 P98082 VAR_031705 p.Thr586Ile Polymorphism rs700241 - DAB2 P98082 VAR_050942 p.Ser634Asn Polymorphism rs3733801 - DACT1 Q9NYF0 VAR_036461 p.Gly124Cys Unclassified - A colorectal cancer sample DACT1 Q9NYF0 VAR_036462 p.Ser682Leu Unclassified - A colorectal cancer sample DACT1 Q9NYF0 VAR_053057 p.Asp446Asn Polymorphism rs34015825 - DACT1 Q9NYF0 VAR_053058 p.Ala464Val Polymorphism rs17832998 - DACT1 Q9NYF0 VAR_053059 p.Ser628Ala Polymorphism rs17094821 - DACT1 Q9NYF0 VAR_053060 p.Gly697Ser Polymorphism rs698025 - DACT2 Q5SW24 VAR_059969 p.Glu351Gly Polymorphism rs6925614 - DACT2 Q5SW24 VAR_059970 p.Thr541Pro Polymorphism rs10945501 - DAD1 P61803 VAR_018825 p.Ala83Thr Polymorphism rs5742796 - DAG1 Q14118 VAR_024335 p.Ser14Trp Polymorphism rs2131107 - DAG1 Q14118 VAR_065266 p.Thr192Met Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C7 (MDDGC7) [MIM:613818] DAGLA Q9Y4D2 VAR_027274 p.Pro889Leu Polymorphism rs3741252 - DAGLA Q9Y4D2 VAR_049822 p.Gly735Val Polymorphism rs35056845 - DAGLA Q9Y4D2 VAR_049823 p.Asp945Glu Polymorphism rs34956386 - DAGLB Q8NCG7 VAR_027275 p.Gln664Arg Polymorphism rs2303361 - DAK Q3LXA3 VAR_028108 p.Ala185Thr Polymorphism rs2260655 - DAK Q3LXA3 VAR_054780 p.Ala334Gly Polymorphism rs35723406 - DALRD3 Q5D0E6 VAR_038349 p.Gln299Arg Polymorphism rs3087866 - DAOA P59103 VAR_014313 p.Arg30Lys Polymorphism rs2391191 - DAOA P59103 VAR_050943 p.Lys62Glu Polymorphism rs9558562 - DAP3 P51398 VAR_061811 p.Val240Phe Polymorphism rs57692591 - DAPK1 P53355 VAR_033235 p.Val416Ile Polymorphism rs12343465 - DAPK1 P53355 VAR_040420 p.Ala461Ser Polymorphism - - DAPK1 P53355 VAR_040421 p.Ser519Ala Polymorphism - - DAPK1 P53355 VAR_040422 p.Cys540Tyr Polymorphism rs56327474 - DAPK1 P53355 VAR_040423 p.Met941Thr Polymorphism - - DAPK1 P53355 VAR_040424 p.Arg977Trp Polymorphism - - DAPK1 P53355 VAR_040425 p.Lys978Asn Polymorphism - - DAPK1 P53355 VAR_040426 p.Tyr993Cys Polymorphism - - DAPK1 P53355 VAR_040427 p.Asp994Glu Polymorphism - - DAPK1 P53355 VAR_040428 p.Glu1005Gln Polymorphism - - DAPK1 P53355 VAR_040429 p.Asp1007Tyr Polymorphism - - DAPK1 P53355 VAR_040430 p.Leu1008Pro Polymorphism - - DAPK1 P53355 VAR_040431 p.Arg1010Cys Polymorphism - - DAPK1 P53355 VAR_040432 p.Thr1018Ala Polymorphism - - DAPK1 P53355 VAR_040433 p.Met1272Ile Polymorphism rs56169226 - DAPK1 P53355 VAR_040434 p.Ser1346Asn Polymorphism rs1056719 - DAPK1 P53355 VAR_040435 p.Gly1405Val Polymorphism rs36220450 - DAPK1 P53355 VAR_060693 p.Pro591Leu Polymorphism - - DAPK1 P53355 VAR_060694 p.Ile622Met Polymorphism - - DAPK2 Q9UIK4 VAR_040436 p.Arg60Trp Polymorphism rs56047843 - DAPK2 Q9UIK4 VAR_040437 p.Arg271Trp Polymorphism rs34270163 - DAPK3 O43293 VAR_040438 p.Thr112Met Unclassified - A colorectal adenocarcinoma sample DAPK3 O43293 VAR_040439 p.Asp161Asn Unclassified - An ovarian mucinous carcinoma sample DAPK3 O43293 VAR_040440 p.Pro216Ser Unclassified - A lung neuroendocrine carcinoma sample DAPL1 A0PJW8 VAR_038402 p.Leu60Pro Polymorphism rs9869 - DAPL1 A0PJW8 VAR_038403 p.Ala66Thr Polymorphism rs10497199 - DARC Q16570 VAR_003480 p.Gly42Asp Polymorphism rs12075 - DARC Q16570 VAR_015068 p.Arg89Cys Polymorphism rs34599082 - DARC Q16570 VAR_015069 p.Ala100Thr Polymorphism rs13962 - DARC Q16570 VAR_044116 p.Leu203Gln Polymorphism rs3027020 - DARC Q16570 VAR_044117 p.Ser326Phe Polymorphism rs17851570 - DARS2 Q6PI48 VAR_027612 p.Leu10Val Polymorphism rs4427454 - DARS2 Q6PI48 VAR_034525 p.Lys196Arg Polymorphism rs35515638 - DARS2 Q6PI48 VAR_037015 p.Ser45Gly Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037016 p.Cys152Phe Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037017 p.Arg179His Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037018 p.Gln184Lys Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037019 p.Gln248Lys Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037020 p.Arg263Gln Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037021 p.Asp560Val Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037022 p.Leu613Phe Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037023 p.Leu626Gln Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037024 p.Leu626Val Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS2 Q6PI48 VAR_037025 p.Tyr629Cys Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] DARS P14868 VAR_027611 p.Leu426Phe Polymorphism rs1803165 - DAZAP1 Q96EP5 VAR_035480 p.Ser381Thr Unclassified - A breast cancer sample DAZAP2 Q15038 VAR_061639 p.Ser102Ala Polymorphism rs57917280 - DAZL Q92904 VAR_017780 p.Thr12Ala Polymorphism rs11710967 - DAZL Q92904 VAR_017781 p.Thr54Ala Unclassified - - DBC1 O60477 VAR_024930 p.Ala437Thr Polymorphism rs1043377 - DBC1 O60477 VAR_029989 p.Ser347Arg Polymorphism - - DBC1 O60477 VAR_029990 p.Arg358His Polymorphism rs17476783 - DBC1 O60477 VAR_036336 p.Pro712Thr Unclassified - A colorectal cancer sample DBF4 Q9UBU7 VAR_052970 p.Tyr112Asn Polymorphism rs1476703 - DBF4 Q9UBU7 VAR_052971 p.His575Arg Polymorphism rs2041049 - DBH P09172 VAR_002196 p.Ala318Ser Polymorphism rs4531 - DBH P09172 VAR_013947 p.Ala211Thr Polymorphism rs5320 - DBH P09172 VAR_013948 p.Arg549Cys Polymorphism rs6271 - DBH P09172 VAR_014706 p.Glu181Gln Polymorphism rs5319 - DBH P09172 VAR_014707 p.Lys239Asn Polymorphism rs5321 - DBH P09172 VAR_014708 p.Glu250Gln Polymorphism rs5323 - DBH P09172 VAR_014709 p.Asp290Asn Polymorphism rs5324 - DBH P09172 VAR_014710 p.Leu317Pro Polymorphism rs5325 - DBH P09172 VAR_022758 p.Val101Met Disease - Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] DBH P09172 VAR_022759 p.Asp114Glu Disease - Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] DBH P09172 VAR_022760 p.Asp345Asn Disease - Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] DBH P09172 VAR_048838 p.Gly12Ser Polymorphism rs5318 - DBI P07108 VAR_048160 p.Asp39Asn Polymorphism rs8192504 - DBI P07108 VAR_048161 p.Met71Val Polymorphism rs8192506 - DBI P07108 VAR_048162 p.Gly86Arg Polymorphism rs8192507 - DBN1 Q16643 VAR_035910 p.Glu278Lys Unclassified - A breast cancer sample DBN1 Q16643 VAR_035911 p.Glu640Gln Unclassified - A breast cancer sample DBN1 Q16643 VAR_047365 p.Ile446Val Polymorphism rs2544809 - DBN1 Q16643 VAR_047366 p.Ser553Pro Polymorphism rs28538572 - DBT P11182 VAR_004978 p.Phe276Cys Disease - Maple syrup urine disease type 2 (MSUD2) [MIM:248600] DBT P11182 VAR_015099 p.Ile98Met Disease - Maple syrup urine disease type 2 (MSUD2) [MIM:248600] DBT P11182 VAR_015100 p.Gly384Ser Disease rs12021720 Maple syrup urine disease type 2 (MSUD2) [MIM:248600] DBX2 Q6ZNG2 VAR_034969 p.Met171Val Polymorphism rs2731038 - DCAF11 Q8TEB1 VAR_020121 p.Arg207His Polymorphism rs3825584 - DCAF12L1 Q5VU92 VAR_035323 p.Asp19Gly Polymorphism rs11095722 - DCAF12L2 Q5VW00 VAR_062104 p.His147Gln Polymorphism rs10126452 - DCAF12 Q5T6F0 VAR_035322 p.Arg131Gln Polymorphism rs11557154 - DCAF13 Q9NV06 VAR_037035 p.Ile42Val Polymorphism rs3134253 - DCAF13 Q9NV06 VAR_037036 p.Asn70Ser Polymorphism rs13272825 - DCAF16 Q9NXF7 VAR_034917 p.Asn45Ser Polymorphism rs34085539 - DCAF16 Q9NXF7 VAR_034918 p.Thr129Ile Polymorphism rs7690457 - DCAF17 Q5H9S7 VAR_050711 p.His185Gln Polymorphism rs3731984 - DCAF4 Q8WV16 VAR_027908 p.Trp22Cys Polymorphism rs2302588 - DCAF4 Q8WV16 VAR_027909 p.Lys193Thr Polymorphism rs17856582 - DCAF4 Q8WV16 VAR_027910 p.Asn266Ser Polymorphism rs7155812 - DCAF4 Q8WV16 VAR_027911 p.Leu334Phe Polymorphism rs17856583 - DCAF4 Q8WV16 VAR_027912 p.Ser345Cys Polymorphism rs3815460 - DCAF4 Q8WV16 VAR_027913 p.Arg439Ile Polymorphism rs17856584 - DCAF6 Q58WW2 VAR_035020 p.Val547Ala Polymorphism rs11558511 - DCAF8L1 A6NGE4 VAR_038060 p.Arg549Trp Polymorphism rs12388557 - DCAF8L2 P0C7V8 VAR_045620 p.Thr316Ala Polymorphism rs5926895 - DCAKD Q8WVC6 VAR_038406 p.Asn84Ile Polymorphism rs17850104 - DCBLD2 Q96PD2 VAR_050944 p.Ile144Met Polymorphism rs9838238 - DCBLD2 Q96PD2 VAR_050945 p.Asp723Asn Polymorphism rs16840208 - DCC P43146 VAR_003909 p.Met168Thr Unclassified - A esophageal carcinoma DCC P43146 VAR_003910 p.Arg201Gly Polymorphism rs2229080 - DCC P43146 VAR_003911 p.Pro1375His Unclassified - A colorectal carcinoma DCC P43146 VAR_024495 p.Met1017Val Polymorphism rs984274 - DCC P43146 VAR_035511 p.Phe1039Ser Unclassified - A colorectal cancer sample DCC P43146 VAR_056043 p.Ile759Met Polymorphism rs2278339 - DCC P43146 VAR_060257 p.Phe23Leu Polymorphism rs9951523 - DCC P43146 VAR_060258 p.Leu679Arg Polymorphism rs2271042 - DCC P43146 VAR_060259 p.His1191Leu Polymorphism rs2270950 - DCDC1 P59894 VAR_033767 p.Val83Met Polymorphism rs2761591 - DCDC1 P59894 VAR_037284 p.Glu7Gly Polymorphism rs11031357 - DCDC2 Q9UHG0 VAR_022890 p.Ser221Gly Polymorphism rs2274305 - DCDC2 Q9UHG0 VAR_050946 p.Pro152Ala Polymorphism rs33914824 - DCDC2 Q9UHG0 VAR_050947 p.Lys456Asn Polymorphism rs9460973 - DCHS1 Q96JQ0 VAR_036110 p.Arg1583Trp Unclassified - A colorectal cancer sample DCHS1 Q96JQ0 VAR_048577 p.Thr1949Met Polymorphism rs4758443 - DCHS1 Q96JQ0 VAR_048578 p.Val2331Ile Polymorphism rs7924553 - DCHS1 Q96JQ0 VAR_048579 p.Arg2359Cys Polymorphism rs2659875 - DCHS1 Q96JQ0 VAR_061074 p.Leu2172Gln Polymorphism rs56920123 - DCHS2 Q6V1P9 VAR_044362 p.Val153Ala Polymorphism rs11721758 - DCHS2 Q6V1P9 VAR_044363 p.His174Arg Polymorphism rs10017772 - DCHS2 Q6V1P9 VAR_044364 p.Ser344Leu Polymorphism rs6858712 - DCHS2 Q6V1P9 VAR_044365 p.Val827Ile Polymorphism rs7666283 - DCHS2 Q6V1P9 VAR_044366 p.Asn897Ser Polymorphism rs1352714 - DCHS2 Q6V1P9 VAR_044367 p.Ser1205Leu Polymorphism rs11935573 - DCHS2 Q6V1P9 VAR_044368 p.Thr1480Arg Polymorphism rs17031394 - DCHS2 Q6V1P9 VAR_044369 p.Thr2112Met Polymorphism rs17031279 - DCHS2 Q6V1P9 VAR_044370 p.Ser2303Asn Polymorphism rs6824133 - DCHS2 Q6V1P9 VAR_061075 p.Glu1595Gln Polymorphism rs28561984 - DCLK1 O15075 VAR_045673 p.Gly29Cys Unclassified - A gastric adenocarcinoma sample DCLK1 O15075 VAR_045674 p.Thr46Met Unclassified - A gastric adenocarcinoma sample DCLK1 O15075 VAR_045675 p.Arg93Gln Unclassified - A gastric adenocarcinoma sample DCLK1 O15075 VAR_045676 p.Ser291Phe Unclassified - A gastric adenocarcinoma sample DCLK1 O15075 VAR_045677 p.Arg292His Polymorphism rs56185003 - DCLK2 Q8N568 VAR_040441 p.Gly119Cys Polymorphism rs56327537 - DCLK2 Q8N568 VAR_040442 p.Arg372His Polymorphism rs34386880 - DCLK2 Q8N568 VAR_040443 p.Ile583Val Polymorphism rs35745104 - DCLK3 Q9C098 VAR_040444 p.Arg24Gln Polymorphism rs56070233 - DCLK3 Q9C098 VAR_040445 p.Pro108Leu Unclassified - A breast infiltrating ductal carcinoma sample DCLK3 Q9C098 VAR_040446 p.Glu422Lys Unclassified - A colorectal adenocarcinoma sample DCLK3 Q9C098 VAR_040447 p.Ser472Asn Unclassified - A lung large cell carcinoma sample DCLK3 Q9C098 VAR_040448 p.Arg554Cys Unclassified - A lung squamous cell carcinoma sample DCLK3 Q9C098 VAR_040449 p.Gly570Arg Unclassified - A renal clear cell carcinoma sample DCLK3 Q9C098 VAR_040450 p.Val596Ala Unclassified - A colorectal adenocarcinoma sample DCLK3 Q9C098 VAR_040451 p.Glu633Asp Polymorphism rs35704209 - DCLRE1A Q6PJP8 VAR_023286 p.Lys58Glu Polymorphism rs17235066 - DCLRE1A Q6PJP8 VAR_023287 p.Glu59Asp Polymorphism rs17228665 - DCLRE1A Q6PJP8 VAR_023288 p.Gly71Asp Polymorphism rs17228672 - DCLRE1A Q6PJP8 VAR_023289 p.Pro287Leu Polymorphism rs17235094 - DCLRE1A Q6PJP8 VAR_023290 p.Asp317His Polymorphism rs3750898 - DCLRE1A Q6PJP8 VAR_023291 p.Ile859Phe Polymorphism rs11196530 - DCLRE1A Q6PJP8 VAR_030574 p.Gly582Trp Polymorphism rs17855759 - DCLRE1B Q9H816 VAR_023292 p.Arg46Leu Polymorphism rs28381069 - DCLRE1B Q9H816 VAR_023293 p.His61Tyr Polymorphism rs11552449 - DCLRE1B Q9H816 VAR_023294 p.Asp462Asn Polymorphism rs28381079 - DCLRE1B Q9H816 VAR_048891 p.Asn510Tyr Polymorphism rs35397235 - DCLRE1C Q96SD1 VAR_023077 p.His35Asp Disease - Omenn syndrome (OS) [MIM:603554] DCLRE1C Q96SD1 VAR_023078 p.Gly118Val Unclassified - - DCLRE1C Q96SD1 VAR_023079 p.Gly135Glu Unclassified - - DCLRE1C Q96SD1 VAR_048892 p.Pro171Arg Polymorphism rs35441642 - DCLRE1C Q96SD1 VAR_048893 p.His243Arg Polymorphism rs12768894 - DCLRE1C Q96SD1 VAR_048894 p.Ser320Cys Polymorphism rs41298896 - DCLRE1C Q96SD1 VAR_060689 p.Ala140Val Polymorphism - - DCLRE1C Q96SD1 VAR_060690 p.Gly153Arg Polymorphism - - DCLRE1C Q96SD1 VAR_060691 p.Leu329Met Polymorphism - - DCN P07585 VAR_011975 p.Glu273Gln Polymorphism rs1803344 - DCN P07585 VAR_014351 p.Thr268Met Polymorphism rs3138268 - DCNP1 Q8TF63 VAR_025758 p.Thr75Pro Polymorphism rs1031844 - DCNP1 Q8TF63 VAR_025759 p.Asn97Asp Polymorphism rs12520809 - DCP1B Q8IZD4 VAR_047395 p.Asn195Asp Polymorphism rs12423058 - DCP1B Q8IZD4 VAR_047396 p.Asn216Ser Polymorphism rs34730825 - DCP1B Q8IZD4 VAR_047397 p.Ser301Thr Polymorphism rs2470449 - DCP1B Q8IZD4 VAR_047398 p.Arg344His Polymorphism rs715146 - DCP2 Q8IU60 VAR_059528 p.Phe16Leu Polymorphism rs33555 - DCPS Q96C86 VAR_027958 p.Gly73Glu Polymorphism rs11557735 - DCST1 Q5T197 VAR_030868 p.Met512Leu Polymorphism rs11264300 - DCST1 Q5T197 VAR_056859 p.Thr158Ile Polymorphism rs9427170 - DCSTAMP Q9H295 VAR_051438 p.Asp349Gly Polymorphism rs3802204 - DCTN1 Q14203 VAR_001373 p.Ala163Pro Polymorphism - - DCTN1 Q14203 VAR_015850 p.Gly59Ser Disease - Distal hereditary motor neuronopathy type 7B (HMN7B) [MIM:607641] DCTN1 Q14203 VAR_048677 p.Leu287Met Polymorphism rs13420401 - DCTN1 Q14203 VAR_048678 p.Arg495Gln Polymorphism rs17721059 - DCTN1 Q14203 VAR_063867 p.Gly71Ala Disease - Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063868 p.Gly71Glu Disease - Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063869 p.Gly71Arg Disease - Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063870 p.Thr72Pro Disease - Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063871 p.Gln74Pro Disease - Perry syndrome (PERRYS) [MIM:168605] DCTN1 Q14203 VAR_063872 p.Met571Thr Unclassified - - DCTN1 Q14203 VAR_063873 p.Arg785Trp Unclassified - - DCTN1 Q14203 VAR_063874 p.Arg1101Lys Unclassified - - DCTN1 Q14203 VAR_063875 p.Thr1249Ile Unclassified - - DCTN4 Q9UJW0 VAR_024336 p.Phe342Leu Polymorphism rs11954652 - DCTN4 Q9UJW0 VAR_024337 p.Ser438Asn Polymorphism rs3733923 - DCTN4 Q9UJW0 VAR_033847 p.Tyr263Cys Polymorphism rs35772018 - DCTN4 Q9UJW0 VAR_054037 p.Pro95Thr Polymorphism rs11550931 - DCX O43602 VAR_007819 p.Leu124Ser Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_007820 p.Ser128Arg Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_007820 p.Ser128Arg Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007821 p.Arg140Leu Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_007821 p.Arg140Leu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007822 p.Arg140His Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007823 p.Asp143Asn Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_007823 p.Asp143Asn Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007824 p.Arg159Leu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007825 p.Asp167His Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007826 p.Gly181Ala Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_007826 p.Gly181Ala Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007827 p.Arg183Ser Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_007828 p.Tyr206His Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_007828 p.Tyr206His Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007829 p.Tyr206Asp Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007830 p.Arg259Leu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007831 p.Arg267Cys Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007832 p.Pro272Arg Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007833 p.Arg273Trp Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_007833 p.Arg273Trp Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007834 p.Asn281Lys Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007835 p.Thr284Arg Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_007835 p.Thr284Arg Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007836 p.Ile295Thr Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007837 p.Thr303Ile Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007838 p.Gly304Glu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007839 p.Val317Ile Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007840 p.Ile331Asn Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007841 p.Ile331Thr Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_007842 p.Gly334Asp Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_010202 p.Arg159His Unclassified - - DCX O43602 VAR_010536 p.Arg170Gly Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026022 p.Thr123Ile Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_026023 p.Lys131Asn Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026024 p.Asn141Asp Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_026025 p.Gly148Glu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026026 p.Ala152Ser Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_026027 p.Leu178Arg Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026028 p.Ile185Thr Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026029 p.Arg259Cys Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026030 p.Pro272Leu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026031 p.Arg277His Disease rs56030372 Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_026032 p.Arg277Ser Unclassified - - DCX O43602 VAR_026033 p.Asn281Ile Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026034 p.Thr284Ala Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026035 p.Gly304Val Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026036 p.Phe324Leu Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067] DCX O43602 VAR_026037 p.Ala332Ser Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DCX O43602 VAR_026038 p.Ala332Val Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067] DDB1 Q16531 VAR_023074 p.Leu427Phe Polymorphism rs28720299 - DDB2 Q92466 VAR_010141 p.Lys244Glu Disease - Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] DDB2 Q92466 VAR_010142 p.Arg273His Disease - Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] DDB2 Q92466 VAR_016337 p.Met215Thr Polymorphism rs4647750 - DDB2 Q92466 VAR_016338 p.Ala293Thr Polymorphism rs4647751 - DDC P20711 VAR_014788 p.Met17Val Polymorphism rs6264 - DDC P20711 VAR_014789 p.Pro210Leu Polymorphism rs6262 - DDC P20711 VAR_014790 p.Met217Val Polymorphism rs6263 - DDC P20711 VAR_019214 p.Glu61Asp Polymorphism rs11575292 - DDC P20711 VAR_019215 p.Met239Ile Polymorphism rs11575377 - DDC P20711 VAR_019216 p.Met239Leu Polymorphism rs11575376 - DDC P20711 VAR_019217 p.Arg462Gln Polymorphism rs11575542 - DDC P20711 VAR_019309 p.Gly102Ser Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046137 p.Pro47His Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046138 p.Ala91Val Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046139 p.Ser147Arg Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046140 p.Ser250Phe Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046141 p.Ala275Thr Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046142 p.Phe309Leu Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046143 p.Arg347Gln Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDC P20711 VAR_046144 p.Leu408Ile Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] DDHD2 O94830 VAR_036930 p.Thr186Met Polymorphism rs2306899 - DDI1 Q8WTU0 VAR_032259 p.Gly136Ser Polymorphism rs7102675 - DDI1 Q8WTU0 VAR_032260 p.Ser142Gly Polymorphism rs17856633 - DDI1 Q8WTU0 VAR_032261 p.Gly239Glu Polymorphism rs17851870 - DDIT3 P35638 VAR_036000 p.Ala115Val Unclassified - A colorectal cancer sample DDIT4L Q96D03 VAR_053971 p.Ser161Phe Polymorphism rs11553154 - DDN O94850 VAR_059651 p.Glu661Gly Polymorphism rs10783299 - DDO Q99489 VAR_014939 p.Gln189Glu Polymorphism rs17622 - DDO Q99489 VAR_014940 p.His230Tyr Polymorphism rs17621 - DDO Q99489 VAR_014941 p.Leu255Arg Polymorphism rs17623 - DDO Q99489 VAR_036244 p.Phe136Leu Unclassified - A breast cancer sample DDOST P39656 VAR_047911 p.Arg8Gly Polymorphism rs537816 - DDR1 Q08345 VAR_041492 p.Ser17Gly Polymorphism rs55901302 - DDR1 Q08345 VAR_041493 p.Val100Ala Polymorphism rs34544756 - DDR1 Q08345 VAR_041494 p.Arg169Gln Polymorphism rs55980643 - DDR1 Q08345 VAR_041495 p.Ala170Asp Polymorphism rs56231803 - DDR1 Q08345 VAR_041496 p.Arg306Trp Polymorphism rs56024191 - DDR1 Q08345 VAR_041497 p.Ser496Ala Unclassified - A lung squamous cell carcinoma sample DDR1 Q08345 VAR_049716 p.Leu833Val Polymorphism rs2524235 - DDR2 Q16832 VAR_041498 p.Arg105Ser Unclassified - A lung large cell carcinoma sample DDR2 Q16832 VAR_041499 p.Met441Ile Polymorphism rs34722354 - DDR2 Q16832 VAR_041500 p.Arg478Cys Polymorphism rs34869543 - DDR2 Q16832 VAR_041501 p.Val543Phe Polymorphism rs55973200 - DDR2 Q16832 VAR_063050 p.Thr713Ile Disease - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] DDR2 Q16832 VAR_063051 p.Ile726Arg Disease - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] DDR2 Q16832 VAR_063052 p.Arg752Cys Disease - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] DDR2 Q16832 VAR_065719 p.Glu113Lys Disease - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] DDRGK1 Q96HY6 VAR_016923 p.Ala303Thr Polymorphism rs11591 - DDX10 Q13206 VAR_035840 p.Leu566Val Unclassified - A breast cancer sample DDX11 Q96FC9 VAR_024808 p.Ile39Ser Polymorphism rs1046454 - DDX11 Q96FC9 VAR_024809 p.Gln567Glu Polymorphism rs2075322 - DDX11 Q96FC9 VAR_024810 p.Thr575Met Polymorphism rs17857386 - DDX11 Q96FC9 VAR_052175 p.Arg856His Polymorphism rs1046457 - DDX11 Q96FC9 VAR_052176 p.Cys864Arg Polymorphism rs3893679 - DDX11 Q96FC9 VAR_052177 p.Cys951Arg Polymorphism rs1046458 - DDX11 Q96FC9 VAR_052178 p.Trp966Cys Polymorphism rs14330 - DDX18 Q9NVP1 VAR_013293 p.Thr94Ser Polymorphism rs1052637 - DDX18 Q9NVP1 VAR_033857 p.Lys647Arg Polymorphism rs10179772 - DDX18 Q9NVP1 VAR_035841 p.Gly41Arg Unclassified - A breast cancer sample DDX19B Q9UMR2 VAR_052160 p.Val149Leu Polymorphism rs34607244 - DDX20 Q9UHI6 VAR_057231 p.Ile636Thr Polymorphism rs197412 - DDX20 Q9UHI6 VAR_057232 p.Arg693Ser Polymorphism rs197414 - DDX20 Q9UHI6 VAR_057233 p.Ile762Thr Polymorphism rs85276 - DDX21 Q9NR30 VAR_052161 p.Thr27Ile Polymorphism rs17556220 - DDX24 Q9GZR7 VAR_052162 p.Glu316Lys Polymorphism rs35413935 - DDX27 Q96GQ7 VAR_022849 p.Gly766Ser Polymorphism rs1130146 - DDX28 Q9NUL7 VAR_052163 p.Thr4Ala Polymorphism rs237831 - DDX31 Q9H8H2 VAR_023065 p.Ile799Val Polymorphism rs306547 - DDX31 Q9H8H2 VAR_023066 p.Arg843Gln Polymorphism rs306548 - DDX31 Q9H8H2 VAR_052164 p.Glu153Lys Polymorphism rs17402080 - DDX31 Q9H8H2 VAR_052165 p.Arg687Gln Polymorphism rs34246652 - DDX39A O00148 VAR_052166 p.Val142Ile Polymorphism rs36127505 - DDX3X O00571 VAR_035839 p.Arg294Thr Unclassified - A breast cancer sample DDX43 Q9NXZ2 VAR_057234 p.Lys625Glu Polymorphism rs311686 - DDX43 Q9NXZ2 VAR_057235 p.Gln629Arg Polymorphism rs311685 - DDX46 Q7L014 VAR_028079 p.Glu207Gln Polymorphism rs10447293 - DDX49 Q9Y6V7 VAR_033858 p.Arg222His Polymorphism rs35802425 - DDX49 Q9Y6V7 VAR_033859 p.Ser296Ala Polymorphism rs35614860 - DDX49 Q9Y6V7 VAR_052167 p.Arg413Trp Polymorphism rs16995781 - DDX4 Q9NQI0 VAR_019574 p.Gly148Asp Polymorphism rs2306259 - DDX4 Q9NQI0 VAR_052159 p.Ile287Val Polymorphism rs2305123 - DDX51 Q8N8A6 VAR_055299 p.Arg41Gln Polymorphism rs17857214 - DDX51 Q8N8A6 VAR_055300 p.Glu134Val Polymorphism rs17855642 - DDX51 Q8N8A6 VAR_055301 p.Gln175Lys Polymorphism rs17855639 - DDX51 Q8N8A6 VAR_055302 p.Pro249Leu Polymorphism rs17857213 - DDX51 Q8N8A6 VAR_055303 p.Gln295Arg Polymorphism rs1133690 - DDX51 Q8N8A6 VAR_055304 p.Gln406Lys Polymorphism rs17853968 - DDX51 Q8N8A6 VAR_055305 p.Gln652Lys Polymorphism rs17853969 - DDX51 Q8N8A6 VAR_061825 p.Ala322Val Polymorphism rs60927391 - DDX52 Q9Y2R4 VAR_060235 p.Met403Val Polymorphism rs7216445 - DDX53 Q86TM3 VAR_052168 p.Val62Ala Polymorphism rs4412516 - DDX53 Q86TM3 VAR_052169 p.Met381Ile Polymorphism rs5925720 - DDX53 Q86TM3 VAR_052170 p.Arg391Met Polymorphism rs5926203 - DDX53 Q86TM3 VAR_064707 p.Asn141Thr Unclassified - - DDX54 Q8TDD1 VAR_033860 p.Pro821Leu Polymorphism rs1048889 - DDX54 Q8TDD1 VAR_052171 p.Arg570His Polymorphism rs35519289 - DDX54 Q8TDD1 VAR_052172 p.Arg693Gln Polymorphism rs11564 - DDX54 Q8TDD1 VAR_052173 p.Val712Ala Polymorphism rs10354 - DDX55 Q8NHQ9 VAR_027789 p.Val101Leu Polymorphism rs17881657 - DDX55 Q8NHQ9 VAR_027790 p.Glu154Gly Polymorphism rs17886035 - DDX55 Q8NHQ9 VAR_027791 p.Asn264Ser Polymorphism rs11057306 - DDX55 Q8NHQ9 VAR_027792 p.Asn556Ser Polymorphism rs10773019 - DDX58 O95786 VAR_023747 p.Arg7Cys Polymorphism rs10813831 - DDX58 O95786 VAR_023748 p.Asp580Glu Polymorphism rs17217280 - DDX59 Q5T1V6 VAR_031424 p.Ile107Val Polymorphism rs3795634 - DDX59 Q5T1V6 VAR_033001 p.Ser472Arg Polymorphism rs17854157 - DDX59 Q5T1V6 VAR_035842 p.Pro77Thr Unclassified - A breast cancer sample DDX5 P17844 VAR_029241 p.Ser480Ala Polymorphism rs1140409 - DDX60L Q5H9U9 VAR_055897 p.Cys336Tyr Polymorphism rs12507582 - DDX60L Q5H9U9 VAR_055898 p.Asn355Lys Polymorphism rs10029536 - DDX60L Q5H9U9 VAR_055899 p.Val409Leu Polymorphism rs13151700 - DDX60L Q5H9U9 VAR_055900 p.Ala583Thr Polymorphism rs2319850 - DDX60L Q5H9U9 VAR_055901 p.Ser1080Cys Polymorphism rs17540213 - DDX60 Q8IY21 VAR_055895 p.Val672Met Polymorphism rs550625 - DDX60 Q8IY21 VAR_055896 p.Ile998Val Polymorphism rs576619 - DEAF1 O75398 VAR_013725 p.Glu186Val Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013726 p.Lys191Ile Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013727 p.Lys191Asn Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013729 p.Glu202Asp Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013730 p.Arg218Lys Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013732 p.Glu356His Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013733 p.Ser364Asn Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013734 p.Gln367His Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013735 p.Val370Leu Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013736 p.Tyr397Phe Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013737 p.Val442Ala Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013738 p.Glu449Lys Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013740 p.Gln468His Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013741 p.His479Leu Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013742 p.Glu498Lys Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013743 p.Thr526Asn Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013744 p.Arg530Leu Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013746 p.Gln542His Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013747 p.Ala545Gly Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_013748 p.Ala545Val Unclassified - A primary colorectal cancer DEAF1 O75398 VAR_065089 p.Ile228Ser Unclassified - - DEC1 Q9P2X7 VAR_050948 p.Ala60Val Polymorphism rs2269700 - DECR1 Q16698 VAR_012034 p.Lys333Asn Polymorphism rs15094 - DEF6 Q9H4E7 VAR_033193 p.Asn287Thr Polymorphism rs2395617 - DEF6 Q9H4E7 VAR_033194 p.Arg578His Polymorphism rs9296146 - DEF8 Q6ZN54 VAR_061485 p.Gln90Glu Polymorphism rs7194844 - DEFA4 P12838 VAR_036315 p.Arg74Gln Unclassified - A colorectal cancer sample DEFA4 P12838 VAR_048861 p.Ala8Pro Polymorphism rs28661751 - DEFA4 P12838 VAR_061132 p.Ala8Val Polymorphism rs28488529 - DEFA5 Q01523 VAR_059245 p.Arg71His Polymorphism rs7839771 - DEFB104A Q8WTQ1 VAR_024767 p.Ile10Val Polymorphism rs2680507 - DEFB108B Q8NET1 VAR_048862 p.Arg36Trp Polymorphism rs12793731 - DEFB108B Q8NET1 VAR_059246 p.Ile27Val Polymorphism rs12285436 - DEFB108B Q8NET1 VAR_059247 p.His45Leu Polymorphism rs12285495 - DEFB108B Q8NET1 VAR_059248 p.Gln53Arg Polymorphism rs7120658 - DEFB116 Q30KQ4 VAR_048863 p.Gln19Leu Polymorphism rs6119768 - DEFB118 Q96PH6 VAR_061133 p.Ile56Val Polymorphism rs34173055 - DEFB125 Q8N687 VAR_061134 p.His62Tyr Polymorphism rs41276376 - DEFB127 Q9H1M4 VAR_048864 p.Gly31Arg Polymorphism rs12624954 - DEFB127 Q9H1M4 VAR_048865 p.Arg71Ser Polymorphism rs16995685 - DEFB128 Q7Z7B8 VAR_048866 p.Lys27Asn Polymorphism rs4813043 - DEFB129 Q9H1M3 VAR_024327 p.Thr149Ser Polymorphism rs1053783 - DEFB1 P60022 VAR_014925 p.Ala48Val Polymorphism rs1800967 - DEFB1 P60022 VAR_014926 p.Cys67Ser Polymorphism rs1800968 - DEFB1 P60022 VAR_018405 p.Val38Ile Polymorphism rs2738047 - DEGS2 Q6QHC5 VAR_055698 p.Ala57Thr Polymorphism rs4905937 - DEGS2 Q6QHC5 VAR_060347 p.Ser8Asn Polymorphism rs7157599 - DEK P35659 VAR_050949 p.Val140Ala Polymorphism rs17336208 - DENND1B Q6P3S1 VAR_035055 p.Val216Met Polymorphism rs7546381 - DENND1C Q8IV53 VAR_035056 p.Ala23Thr Polymorphism rs10416003 - DENND1C Q8IV53 VAR_035057 p.Arg489Cys Polymorphism rs35001260 - DENND1C Q8IV53 VAR_035058 p.Ala542Val Polymorphism rs35810378 - DENND2A Q9ULE3 VAR_026856 p.Pro156His Polymorphism rs269243 - DENND2A Q9ULE3 VAR_026857 p.Glu729Lys Polymorphism rs2293177 - DENND2A Q9ULE3 VAR_026858 p.Ile777Thr Polymorphism rs6464833 - DENND2C Q68D51 VAR_026859 p.Asp2Glu Polymorphism rs7541738 - DENND2C Q68D51 VAR_026860 p.Asp170Gly Polymorphism rs12136548 - DENND2D Q9H6A0 VAR_050950 p.Ser282Asn Polymorphism rs35742969 - DENND3 A2RUS2 VAR_035053 p.Ser143Asn Polymorphism rs307761 - DENND3 A2RUS2 VAR_035054 p.Gln364Arg Polymorphism rs11997191 - DENND4A Q7Z401 VAR_025362 p.Leu284Pro Polymorphism rs17854146 - DENND4C Q5VZ89 VAR_022891 p.Thr1030Ala Polymorphism rs17818730 - DENND4C Q5VZ89 VAR_022892 p.Asn1107His Polymorphism rs6475322 - DENND4C Q5VZ89 VAR_061640 p.Val991Gly Polymorphism rs34267952 - DENND5A Q6IQ26 VAR_028409 p.Glu224Gln Polymorphism rs952374 - DENND5B Q6ZUT9 VAR_040076 p.Arg52Lys Polymorphism rs4930979 - DENND5B Q6ZUT9 VAR_040077 p.His487Asn Polymorphism rs1056320 - DEPDC1B Q8WUY9 VAR_031819 p.Arg332Met Polymorphism rs17856590 - DEPDC1B Q8WUY9 VAR_031820 p.Val395Leu Polymorphism rs17851707 - DEPDC1 Q5TB30 VAR_059798 p.Ile404Arg Polymorphism rs3790479 - DEPDC4 Q8N2C3 VAR_031815 p.His122Arg Polymorphism rs7307415 - DEPDC5 O75140 VAR_024338 p.Ser491Thr Polymorphism rs8138516 - DEPDC5 O75140 VAR_053953 p.Ala641Val Polymorphism rs16989528 - DEPDC5 O75140 VAR_053954 p.Ser712Phe Polymorphism rs16989535 - DEPDC7 Q96QD5 VAR_053972 p.Ala192Thr Polymorphism rs34161108 - DEPDC7 Q96QD5 VAR_062212 p.Thr464Ile Polymorphism rs17852859 - DEPP Q9NTK1 VAR_050951 p.Ile44Met Polymorphism rs11555140 - DEPTOR Q8TB45 VAR_031816 p.Asn148Ser Polymorphism rs34057546 - DEPTOR Q8TB45 VAR_031817 p.Asn204Ser Polymorphism rs2271900 - DEPTOR Q8TB45 VAR_031818 p.Ser389Asn Polymorphism rs4871827 - DERL1 Q9BUN8 VAR_019516 p.Ile171Val Polymorphism rs2272722 - DERL3 Q96Q80 VAR_019517 p.Ala211Val Polymorphism rs1128127 - DERL3 Q96Q80 VAR_048897 p.Phe149Leu Polymorphism rs3177243 - DES P17661 VAR_007900 p.Ala337Pro Disease rs59962885 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_007901 p.Ala360Pro Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_007902 p.Asn393Ile Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_009189 p.Leu345Pro Disease rs57639980 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_018771 p.Leu385Pro Disease rs57955682 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_018772 p.Gln389Pro Disease rs28930075 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_018773 p.Ile451Met Disease - Cardiomyopathy dilated type 1I (CMD1I) [MIM:604765] DES P17661 VAR_018773 p.Ile451Met Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042448 p.Ser2Ile Disease rs58999456 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042449 p.Ser46Phe Disease rs60794845 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042450 p.Ser46Tyr Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042451 p.Ala213Val Polymorphism rs41272699 - DES P17661 VAR_042452 p.Glu245Asp Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042453 p.Asn342Asp Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042454 p.Arg350Pro Disease rs57965306 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042454 p.Arg350Pro Disease rs57965306 Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400] DES P17661 VAR_042455 p.Arg355Pro Disease rs61368398 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042456 p.Ala357Pro Disease rs58898021 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042457 p.Leu370Pro Disease rs59308628 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042458 p.Arg406Trp Disease rs61726465 Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042459 p.Thr442Ile Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042460 p.Lys449Met Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042461 p.Lys449Thr Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042462 p.Arg454Trp Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DES P17661 VAR_042463 p.Ser460Ile Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419] DFFB O76075 VAR_009305 p.Arg196Lys Polymorphism rs12738235 - DFFB O76075 VAR_048737 p.Lys277Arg Polymorphism rs12564400 - DFNA5 O60443 VAR_030824 p.Pro142Thr Polymorphism rs754554 - DFNA5 O60443 VAR_030825 p.Val207Met Polymorphism rs12540919 - DFNA5 O60443 VAR_053102 p.Met174Thr Polymorphism rs876306 - DFNB31 Q9P202 VAR_020593 p.Ala440Thr Polymorphism rs4978584 - DFNB31 Q9P202 VAR_020594 p.Val783Ala Polymorphism rs2274159 - DFNB31 Q9P202 VAR_020595 p.Asn796Lys Polymorphism rs2274158 - DFNB31 Q9P202 VAR_020596 p.Thr813Met Polymorphism rs942519 - DFNB31 Q9P202 VAR_036684 p.Arg364His Polymorphism rs10817610 - DFNB31 Q9P202 VAR_036685 p.Arg423Pro Polymorphism rs35003670 - DFNB31 Q9P202 VAR_036686 p.Pro562Ala Polymorphism rs12339210 - DFNB31 Q9P202 VAR_036687 p.Met613Thr Polymorphism rs942519 - DFNB31 Q9P202 VAR_036688 p.His752Gln Polymorphism rs6478078 - DFNB31 Q9P202 VAR_057029 p.Ala443Ser Polymorphism rs11539662 - DFNB59 Q0ZLH3 VAR_027387 p.Thr54Ile Disease - Deafness autosomal recessive type 59 (DFNB59) [MIM:610220] DFNB59 Q0ZLH3 VAR_027388 p.Arg183Trp Disease - Deafness autosomal recessive type 59 (DFNB59) [MIM:610220] DFNB59 Q0ZLH3 VAR_053103 p.Arg265Cys Polymorphism rs17304212 - DGAT2 Q96PD7 VAR_033864 p.Arg317Gly Polymorphism rs34421064 - DGAT2 Q96PD7 VAR_033865 p.Met361Ile Polymorphism rs34113941 - DGCR14 Q96DF8 VAR_015117 p.Ala31Val Polymorphism - - DGCR14 Q96DF8 VAR_015118 p.Val336Met Polymorphism rs17743887 - DGCR14 Q96DF8 VAR_015119 p.Ala423Val Polymorphism rs712965 - DGCR2 P98153 VAR_020046 p.Val473Ala Polymorphism rs2072123 - DGCR6L Q9BY27 VAR_055870 p.Val115Leu Polymorphism rs1056818 - DGCR6L Q9BY27 VAR_055871 p.Asn195Lys Polymorphism rs1056804 - DGCR6 Q14129 VAR_033866 p.Ala117Val Polymorphism rs16983281 - DGCR8 Q8WYQ5 VAR_050952 p.Ile174Val Polymorphism rs35987994 - DGCR8 Q8WYQ5 VAR_050953 p.Asn725Asp Polymorphism rs11546015 - DGKA P23743 VAR_031563 p.His538Tyr Polymorphism rs17852990 - DGKB Q9Y6T7 VAR_048858 p.Gly789Ser Polymorphism rs34616903 - DGKE P52429 VAR_036120 p.Leu99Arg Unclassified - A breast cancer sample DGKG P49619 VAR_020259 p.Thr142Ser Polymorphism rs1004588 - DGKG P49619 VAR_020260 p.Arg370Trp Polymorphism rs3213770 - DGKG P49619 VAR_024430 p.Arg316Lys Polymorphism rs2193587 - DGKG P49619 VAR_036119 p.Glu706Lys Unclassified - A breast cancer sample DGKH Q86XP1 VAR_033867 p.Val1201Ala Polymorphism rs17646069 - DGKI O75912 VAR_010190 p.Leu153Phe Polymorphism - - DGKK Q5KSL6 VAR_048859 p.Asp1118Asn Polymorphism rs4074320 - DGKQ P52824 VAR_058478 p.Pro27Leu Polymorphism rs17855876 - DGKZ Q13574 VAR_047371 p.Gln21Arg Polymorphism rs1317826 - DGKZ Q13574 VAR_061131 p.Gly69Cys Polymorphism rs901998 - DGUOK Q16854 VAR_019417 p.Arg142Lys Disease - Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880] DGUOK Q16854 VAR_019418 p.Glu227Lys Disease - Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880] DGUOK Q16854 VAR_023789 p.Leu250Ser Disease - Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880] DHCR24 Q15392 VAR_012732 p.Glu191Lys Disease rs28939093 Desmosterolosis (DESMOS) [MIM:602398] DHCR24 Q15392 VAR_012733 p.Asn294Thr Disease - Desmosterolosis (DESMOS) [MIM:602398] DHCR24 Q15392 VAR_012734 p.Lys306Asn Disease - Desmosterolosis (DESMOS) [MIM:602398] DHCR24 Q15392 VAR_012735 p.Tyr471Ser Disease rs28939092 Desmosterolosis (DESMOS) [MIM:602398] DHCR7 Q9UBM7 VAR_012717 p.Pro51Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012718 p.Thr93Met Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012719 p.Leu99Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012720 p.His119Leu Disease rs28938174 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012721 p.Leu157Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012722 p.Gly244Arg Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012723 p.Ala247Val Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012724 p.Trp248Cys Disease rs28939698 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012725 p.Thr289Ile Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012726 p.Val326Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012727 p.Arg352Trp Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012728 p.Cys380Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012729 p.Arg404Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_012730 p.Gly410Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_016975 p.Glu448Lys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023148 p.Leu68Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023149 p.Gln107His Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023150 p.Leu109Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023151 p.Ser113Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023152 p.Gly138Val Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023153 p.Ile145Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023154 p.Gly147Asp Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023155 p.Thr154Met Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023156 p.Ser169Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023157 p.Trp182Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023158 p.Trp182Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023159 p.Cys183Tyr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023160 p.Lys198Glu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023161 p.Phe235Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023162 p.Arg242Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023163 p.Arg242His Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023164 p.Phe255Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023165 p.Val281Met Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023166 p.Ile297Thr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023167 p.Cys311Gly Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023168 p.Cys311Tyr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023169 p.Tyr324His Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023170 p.Gly344Arg Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023171 p.Arg352Gln Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023172 p.Val353Ala Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023173 p.Arg362Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023174 p.Cys380Arg Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023175 p.Cys380Tyr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023176 p.Ser397Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023177 p.Arg404Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023178 p.His405Tyr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023179 p.Tyr408His Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023180 p.Gly410Arg Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023181 p.His426Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023182 p.Arg443Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023183 p.Arg446Gln Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023184 p.Glu448Gln Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_023185 p.Arg450Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] DHCR7 Q9UBM7 VAR_052154 p.Gly425Ser Polymorphism rs760242 - DHDDS Q86SQ9 VAR_028088 p.Val253Met Polymorphism rs3816539 - DHDDS Q86SQ9 VAR_065356 p.Lys42Glu Disease - Retinitis pigmentosa type 59 (RP59) [MIM:613861] DHDH Q9UQ10 VAR_038174 p.Ala2Pro Polymorphism rs10401800 - DHDH Q9UQ10 VAR_038175 p.Ser66Asn Polymorphism rs2270941 - DHDH Q9UQ10 VAR_038176 p.Val200Met Polymorphism rs35453148 - DHDH Q9UQ10 VAR_038177 p.Val247Ala Polymorphism rs11666105 - DHDH Q9UQ10 VAR_038178 p.Gly282Arg Polymorphism rs3765148 - DHFRL1 Q86XF0 VAR_061135 p.Val166Ile Polymorphism rs17855824 - DHH O43323 VAR_054873 p.Leu162Pro Disease - Complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420] DHODH Q02127 VAR_022094 p.Lys7Gln Polymorphism rs3213422 - DHODH Q02127 VAR_062412 p.Gly19Glu Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062413 p.Arg135Cys Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062414 p.Gly152Arg Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062415 p.Arg199Cys Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062416 p.Gly202Ala Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062417 p.Gly202Asp Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062418 p.Arg244Trp Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062419 p.Thr284Ile Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062420 p.Arg346Trp Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHODH Q02127 VAR_062421 p.Asp392Gly Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750] DHPS P49366 VAR_043005 p.Glu174Asp Polymorphism rs10425108 - DHRS13 Q6UX07 VAR_037348 p.Arg191Gln Polymorphism rs2277666 - DHRS13 Q6UX07 VAR_037349 p.Leu336Gln Polymorphism rs4795472 - DHRS1 Q96LJ7 VAR_052318 p.Thr241Ile Polymorphism rs10134537 - DHRS2 Q13268 VAR_035846 p.Ala250Val Unclassified - A colorectal cancer sample DHRS4L2 Q6PKH6 VAR_037395 p.Leu17Met Polymorphism rs2273947 - DHRS4 Q9BTZ2 VAR_057272 p.Ala31Thr Polymorphism rs1043442 - DHRS4 Q9BTZ2 VAR_061846 p.Pro202Ser Polymorphism rs1043650 - DHRS7C A6NNS2 VAR_043150 p.Ser227Leu Polymorphism rs2280490 - DHRS7 Q9Y394 VAR_052319 p.Arg218Gln Polymorphism rs34583017 - DHRS9 Q9BPW9 VAR_052320 p.Asp286His Polymorphism rs11695788 - DHRSX Q8N5I4 VAR_016100 p.Glu297Lys Polymorphism rs12010 - DHRSX Q8N5I4 VAR_055354 p.Val247Leu Polymorphism rs1127915 - DHRSX Q8N5I4 VAR_055355 p.His292Arg Polymorphism rs3210910 - DHTKD1 Q96HY7 VAR_036715 p.Phe20Leu Polymorphism rs1279138 - DHTKD1 Q96HY7 VAR_036716 p.Tyr272Asp Polymorphism rs3740015 - DHTKD1 Q96HY7 VAR_036717 p.Arg308Leu Polymorphism rs17849603 - DHTKD1 Q96HY7 VAR_036718 p.Asn350Asp Polymorphism rs34716552 - DHTKD1 Q96HY7 VAR_036719 p.Ile607Met Polymorphism rs2062988 - DHX16 O60231 VAR_057236 p.Lys352Glu Polymorphism rs17189239 - DHX16 O60231 VAR_057237 p.Leu502Phe Polymorphism rs17189232 - DHX16 O60231 VAR_057238 p.Asp566Gly Polymorphism rs9262138 - DHX29 Q7Z478 VAR_026985 p.Pro630His Polymorphism rs17854904 - DHX29 Q7Z478 VAR_052180 p.Asp309Ala Polymorphism rs35874395 - DHX32 Q7L7V1 VAR_035843 p.Pro209Arg Unclassified - A breast cancer sample DHX32 Q7L7V1 VAR_052181 p.Glu271Asp Polymorphism rs11244674 - DHX32 Q7L7V1 VAR_052182 p.Asp301Ala Polymorphism rs35772239 - DHX32 Q7L7V1 VAR_052183 p.Val430Leu Polymorphism rs17153669 - DHX33 Q9H6R0 VAR_057239 p.Arg118Cys Polymorphism rs8069315 - DHX33 Q9H6R0 VAR_057240 p.His483Asp Polymorphism rs11653658 - DHX34 Q14147 VAR_057241 p.Arg17Trp Polymorphism rs12984558 - DHX34 Q14147 VAR_057242 p.Gly117Asp Polymorphism rs8113564 - DHX35 Q9H5Z1 VAR_020211 p.Pro703Leu Polymorphism rs3752302 - DHX35 Q9H5Z1 VAR_052184 p.Ile189Thr Polymorphism rs36053162 - DHX36 Q9H2U1 VAR_027140 p.Glu151Lys Polymorphism rs1058299 - DHX36 Q9H2U1 VAR_027141 p.Ser416Cys Polymorphism rs9438 - DHX36 Q9H2U1 VAR_027142 p.Ile583Asn Polymorphism rs17853513 - DHX37 Q8IY37 VAR_052185 p.Arg458Gln Polymorphism rs11057939 - DHX37 Q8IY37 VAR_052186 p.Lys508Asn Polymorphism rs35165507 - DHX37 Q8IY37 VAR_052187 p.Val717Ile Polymorphism rs35016004 - DHX37 Q8IY37 VAR_052188 p.Ser869Gly Polymorphism rs4516060 - DHX37 Q8IY37 VAR_052189 p.Arg1081Gln Polymorphism rs4447263 - DHX37 Q8IY37 VAR_061826 p.Met96Ile Polymorphism rs11558556 - DHX38 Q92620 VAR_015518 p.Thr1217Ala Polymorphism - - DHX57 Q6P158 VAR_033861 p.Ser433Gly Polymorphism rs35371077 - DHX57 Q6P158 VAR_052190 p.Ser410Phe Polymorphism rs11893062 - DHX57 Q6P158 VAR_052191 p.Asn587Ser Polymorphism rs7598922 - DHX58 Q96C10 VAR_019394 p.Gln425Arg Polymorphism rs2074158 - DHX58 Q96C10 VAR_019395 p.Arg523Gln Polymorphism rs2074160 - DHX58 Q96C10 VAR_049336 p.Thr76Ala Polymorphism rs34891485 - DHX58 Q96C10 VAR_049337 p.Arg95Gln Polymorphism rs35118457 - DHX8 Q14562 VAR_052174 p.Ala1069Gly Polymorphism rs34285079 - DHX9 Q08211 VAR_052179 p.Ile894Val Polymorphism rs1049264 - DIAPH2 O60879 VAR_049095 p.Phe425Leu Polymorphism rs20361 - DIAPH2 O60879 VAR_049096 p.Leu426Val Polymorphism rs20361 - DIAPH3 Q9NSV4 VAR_049097 p.Asn363Ser Polymorphism rs36084898 - DIAPH3 Q9NSV4 VAR_049098 p.Phe773Leu Polymorphism rs35579086 - DIAPH3 Q9NSV4 VAR_049099 p.Glu1041Gly Polymorphism rs7491389 - DICER1 Q9UPY3 VAR_063150 p.Leu1583Arg Disease - Pleuropulmonary blastoma (PPB) [MIM:601200] DICER1 Q9UPY3 VAR_065301 p.Ser839Phe Disease - Goiter multinodular type 1 with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800] DIDO1 Q9BTC0 VAR_028310 p.Pro13Leu Polymorphism rs6090161 - DIDO1 Q9BTC0 VAR_028311 p.Pro276Leu Polymorphism rs6090160 - DIDO1 Q9BTC0 VAR_057093 p.Met544Thr Polymorphism rs1883848 - DIDO1 Q9BTC0 VAR_057094 p.Ala556Thr Polymorphism rs1883847 - DIDO1 Q9BTC0 VAR_057095 p.Ala793Gly Polymorphism rs750077 - DIDO1 Q9BTC0 VAR_057096 p.Pro1220Gln Polymorphism rs6011441 - DIDO1 Q9BTC0 VAR_061740 p.Ser1708Cys Polymorphism rs41282984 - DIEXF Q68CQ4 VAR_028827 p.Gln67Glu Polymorphism rs585627 - DIO2 Q92813 VAR_047549 p.Thr92Ala Polymorphism rs225014 - DIO2 Q92813 VAR_049640 p.Ala81Asp Polymorphism rs2839859 - DIP2A Q14689 VAR_047372 p.Pro191Ala Polymorphism rs7283507 - DIP2A Q14689 VAR_047373 p.Ser372Asn Polymorphism rs16979312 - DIP2B Q9P265 VAR_038861 p.Ile792Val Polymorphism rs11169525 - DIP2C Q9Y2E4 VAR_035905 p.Ala586Glu Unclassified - A breast cancer sample DIP2C Q9Y2E4 VAR_035906 p.Gly622Ser Unclassified - A colorectal cancer sample DIP2C Q9Y2E4 VAR_035907 p.Val1264Met Unclassified - A breast cancer sample DIRC1 Q969H9 VAR_022549 p.Ser51Ala Polymorphism - - DIRC1 Q969H9 VAR_061641 p.Leu92Ser Polymorphism rs58846152 - DIS3L2 Q8IYB7 VAR_038059 p.Pro12Ser Polymorphism rs723044 - DIS3L Q8TF46 VAR_038056 p.Ile518Val Polymorphism rs34668776 - DIS3L Q8TF46 VAR_038057 p.Asp614Gly Polymorphism rs3803412 - DIS3L Q8TF46 VAR_038058 p.Asn747Ser Polymorphism rs17258507 - DIS3 Q9Y2L1 VAR_023099 p.Asn269Ser Polymorphism rs4883918 - DIS3 Q9Y2L1 VAR_023100 p.Thr326Arg Polymorphism rs7332388 - DISC1 Q9NRI5 VAR_022437 p.Arg264Gln Polymorphism rs3738401 - DISC1 Q9NRI5 VAR_022438 p.Ser704Cys Polymorphism rs821616 - DISC1 Q9NRI5 VAR_026704 p.Leu607Phe Polymorphism rs6675281 - DISC1 Q9NRI5 VAR_030422 p.Gly5Val Polymorphism rs3738400 - DISC1 Q9NRI5 VAR_050954 p.Leu330Phe Polymorphism rs34622148 - DISC1 Q9NRI5 VAR_061642 p.Ala116Val Polymorphism rs56020408 - DISC1 Q9NRI5 VAR_061643 p.Thr328Asn Polymorphism rs55795950 - DISC1 Q9NRI5 VAR_061644 p.Gly531Arg Polymorphism rs56229136 - DISP1 Q96F81 VAR_037077 p.Glu103Lys Polymorphism rs2609383 - DISP2 A7MBM2 VAR_037078 p.Pro47Ala Polymorphism rs1898883 - DISP2 A7MBM2 VAR_037079 p.Cys56Ser Polymorphism rs1898882 - DISP2 A7MBM2 VAR_037080 p.Gly388Glu Polymorphism rs35043215 - DISP2 A7MBM2 VAR_037081 p.Gly1145Ser Polymorphism rs2412512 - DISP2 A7MBM2 VAR_037082 p.Arg1247Trp Polymorphism rs3743142 - DIXDC1 Q155Q3 VAR_032294 p.Lys300Arg Polymorphism rs34575249 - DKC1 O60832 VAR_006811 p.Phe36Val Disease rs121912293 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_006813 p.Pro40Arg Disease rs121912292 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_006814 p.Leu72Tyr Disease rs121912294 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_006815 p.Gly402Glu Disease rs121912295 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_009264 p.Ala353Val Disease rs121912288 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_009264 p.Ala353Val Disease rs121912288 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240] DKC1 O60832 VAR_010076 p.Ala2Val Disease rs121912303 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_010077 p.Lys39Glu Disease rs121912296 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_010078 p.Glu41Lys Disease rs121912302 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_010079 p.Arg65Thr Disease rs121912301 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_010080 p.Thr66Ala Disease rs121912297 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_010081 p.Leu321Val Disease rs2728726 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_010082 p.Met350Ile Disease rs121912298 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_010083 p.Met350Thr Disease rs121912300 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_010084 p.Gly402Arg Disease rs121912299 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_015674 p.Ile38Thr Disease rs28936072 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240] DKC1 O60832 VAR_015675 p.Thr49Met Disease rs121912304 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240] DKC1 O60832 VAR_015676 p.Ser121Gly Disease rs121912305 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240] DKC1 O60832 VAR_022553 p.Gly223Asp Polymorphism rs2728533 - DKC1 O60832 VAR_063821 p.Leu56Ser Disease rs121912287 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_063822 p.Leu72Phe Disease rs121912306 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_063823 p.Leu317Phe Disease rs121912290 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_063824 p.Arg322Gln Disease rs121912291 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKC1 O60832 VAR_063825 p.Pro409Leu Disease rs121912289 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] DKK2 Q9UBU2 VAR_021966 p.Arg146Gln Polymorphism rs17037102 - DKK3 Q9UBP4 VAR_030787 p.Arg335Gly Polymorphism rs3206824 - DKK3 Q9UBP4 VAR_057516 p.Glu49Asp Polymorphism rs11544816 - DKKL1 Q9UK85 VAR_021967 p.Met109Arg Polymorphism rs2303759 - DKKL1 Q9UK85 VAR_021968 p.Glu214Lys Polymorphism rs2288481 - DKKL1 Q9UK85 VAR_024432 p.Ala29Thr Polymorphism rs919364 - DKKL1 Q9UK85 VAR_053061 p.Leu24Arg Polymorphism rs2303757 - DKKL1 Q9UK85 VAR_053062 p.Leu104Ile Polymorphism rs35693137 - DKKL1 Q9UK85 VAR_053063 p.Gly187Ser Polymorphism rs1054770 - DLAT P10515 VAR_047410 p.Ala43Val Polymorphism rs2303436 - DLAT P10515 VAR_047411 p.Ser98Phe Polymorphism rs537057 - DLAT P10515 VAR_047412 p.Leu99Phe Polymorphism rs537060 - DLAT P10515 VAR_047413 p.Gln209Arg Polymorphism rs11553595 - DLAT P10515 VAR_047414 p.Asp313Val Polymorphism rs11553592 - DLAT P10515 VAR_047415 p.Val318Ala Polymorphism rs627441 - DLAT P10515 VAR_047416 p.Asp451Asn Polymorphism rs10891314 - DLC1 Q96QB1 VAR_014229 p.Asn712Ser Polymorphism rs1044092 - DLC1 Q96QB1 VAR_014230 p.Val791Met Polymorphism rs532841 - DLC1 Q96QB1 VAR_014231 p.Thr959Ala Polymorphism - - DLC1 Q96QB1 VAR_014232 p.His998Gln Polymorphism - - DLC1 Q96QB1 VAR_014233 p.Val1025Ala Polymorphism - - DLC1 Q96QB1 VAR_014234 p.Glu1199Val Polymorphism rs1044093 - DLC1 Q96QB1 VAR_014235 p.Ser1209Cys Polymorphism rs1044094 - DLC1 Q96QB1 VAR_059293 p.Arg27Cys Polymorphism rs34575560 - DLC1 Q96QB1 VAR_059294 p.Leu81Val Polymorphism rs3816748 - DLC1 Q96QB1 VAR_059295 p.Gln254His Polymorphism rs11203495 - DLC1 Q96QB1 VAR_059296 p.Asn255Asp Polymorphism rs11203494 - DLC1 Q96QB1 VAR_059297 p.Thr260Ile Polymorphism rs3816747 - DLC1 Q96QB1 VAR_059298 p.Gln320His Polymorphism rs34591797 - DLD P09622 VAR_006907 p.Lys72Glu Unclassified - - DLD P09622 VAR_006908 p.Pro488Leu Unclassified - - DLD P09622 VAR_014555 p.Leu331Val Polymorphism rs17624 - DLD P09622 VAR_015820 p.Gly229Cys Unclassified - - DLD P09622 VAR_015821 p.Arg495Gly Unclassified - - DLD P09622 VAR_031922 p.Lys104Thr Polymorphism rs1130477 - DLEC1 Q9Y238 VAR_035908 p.Pro351Arg Unclassified - A breast cancer sample DLEC1 Q9Y238 VAR_056860 p.Leu79Arg Polymorphism rs7625806 - DLEC1 Q9Y238 VAR_056861 p.Ser192Phe Polymorphism rs34012183 - DLEC1 Q9Y238 VAR_056862 p.Lys1022Asn Polymorphism rs36012922 - DLEC1 Q9Y238 VAR_056863 p.Asn1150Asp Polymorphism rs9840172 - DLEC1 Q9Y238 VAR_056864 p.Leu1227Pro Polymorphism rs9810085 - DLEU7 Q6UYE1 VAR_031280 p.Ala83Val Polymorphism rs898861 - DLG1 Q12959 VAR_054334 p.Lys140Arg Polymorphism rs1802668 - DLG1 Q12959 VAR_054335 p.Arg278Gln Polymorphism rs1134986 - DLG1 Q12959 VAR_054336 p.Pro899Leu Polymorphism rs34492126 - DLG3 Q92796 VAR_036591 p.Gly40Arg Unclassified - A colorectal cancer sample DLG5 Q8TDM6 VAR_027897 p.Gln140Arg Polymorphism rs1248696 - DLG5 Q8TDM6 VAR_027898 p.Pro1481Gln Polymorphism rs2289310 - DLG5 Q8TDM6 VAR_027899 p.Ala1600Val Polymorphism rs4979794 - DLGAP1 O14490 VAR_053648 p.Arg816Gln Polymorphism rs35822832 - DLGAP2 Q9P1A6 VAR_023073 p.Pro419Gln Polymorphism rs2301963 - DLGAP2 Q9P1A6 VAR_036750 p.Thr620Met Polymorphism rs7463888 - DLGAP4 Q9Y2H0 VAR_057716 p.Ala486Thr Polymorphism rs6019652 - DLGAP4 Q9Y2H0 VAR_057717 p.Arg861Gln Polymorphism rs2275807 - DLGAP5 Q15398 VAR_023774 p.Gly69Glu Polymorphism rs2274271 - DLGAP5 Q15398 VAR_057718 p.Gln324His Polymorphism rs8010791 - DLGAP5 Q15398 VAR_057719 p.Thr469Ile Polymorphism rs17128275 - DLGAP5 Q15398 VAR_062147 p.Glu753Gln Polymorphism rs35954941 - DLK1 P80370 VAR_055715 p.Gln73Leu Polymorphism rs34686110 - DLK1 P80370 VAR_055716 p.Val104Met Polymorphism rs2273607 - DLK1 P80370 VAR_055717 p.Ser260Asn Polymorphism rs1058009 - DLK1 P80370 VAR_060335 p.Arg101Gly Polymorphism rs6575799 - DLK1 P80370 VAR_060336 p.Asp108Gly Polymorphism rs1058006 - DLK2 Q6UY11 VAR_048977 p.Gly301Arg Polymorphism rs35192247 - DLL1 O00548 VAR_048976 p.Val444Met Polymorphism rs16901311 - DLL3 Q9NYJ7 VAR_009952 p.Gly385Asp Disease - Spondylocostal dysostosis type 1 (SCDO1) [MIM:277300] DLL3 Q9NYJ7 VAR_016776 p.Leu218Pro Polymorphism rs1110627 - DLL3 Q9NYJ7 VAR_046782 p.Ala115Thr Polymorphism - - DLL3 Q9NYJ7 VAR_046783 p.Leu142Gln Polymorphism rs55741253 - DLL3 Q9NYJ7 VAR_046784 p.Phe172Cys Polymorphism rs8107127 - DLST P36957 VAR_004976 p.Pro213Ala Polymorphism rs2853769 - DLST P36957 VAR_004977 p.Pro384Thr Polymorphism - - DLX1 P56177 VAR_028443 p.Ser136Cys Polymorphism rs17853565 - DLX5 P56178 VAR_033874 p.Ser234Arg Polymorphism rs35273378 - DMBT1 Q9UGM3 VAR_024788 p.Pro42Thr Polymorphism rs11523871 - DMBT1 Q9UGM3 VAR_024789 p.Ser52Trp Polymorphism - - DMBT1 Q9UGM3 VAR_024790 p.Ser54Leu Polymorphism rs3013236 - DMBT1 Q9UGM3 VAR_024791 p.Val60Ala Polymorphism - - DMBT1 Q9UGM3 VAR_024792 p.Pro65Leu Polymorphism - - DMBT1 Q9UGM3 VAR_024793 p.Gln337Leu Polymorphism - - DMBT1 Q9UGM3 VAR_024794 p.Pro357Ser Polymorphism - - DMBT1 Q9UGM3 VAR_024795 p.Arg364Gly Polymorphism - - DMBT1 Q9UGM3 VAR_024796 p.Gln420His Unclassified - A glioma sample DMBT1 Q9UGM3 VAR_024797 p.Gly607Val Unclassified - A glioma sample DMBT1 Q9UGM3 VAR_024798 p.Thr649Met Polymorphism - - DMBT1 Q9UGM3 VAR_024799 p.Arg656Trp Polymorphism - - DMBT1 Q9UGM3 VAR_024800 p.Thr780Met Polymorphism - - DMBT1 Q9UGM3 VAR_024801 p.Pro856Ser Polymorphism rs2277240 - DMBT1 Q9UGM3 VAR_024802 p.His1084Tyr Polymorphism rs2277244 - DMBT1 Q9UGM3 VAR_024803 p.Met1169Thr Polymorphism rs3758437 - DMBT1 Q9UGM3 VAR_024804 p.Arg1176Trp Polymorphism - - DMBT1 Q9UGM3 VAR_024805 p.Val1545Met Polymorphism - - DMBT1 Q9UGM3 VAR_024806 p.His1732Ser Unclassified - - DMBT1 Q9UGM3 VAR_024807 p.Thr1961Pro Polymorphism - - DMBT1 Q9UGM3 VAR_044417 p.Asn322Asp Polymorphism rs1969620 - DMBT1 Q9UGM3 VAR_044418 p.Arg1860Leu Polymorphism rs7099177 - DMBT1 Q9UGM3 VAR_052994 p.Arg670Cys Polymorphism rs2277237 - DMBT1 Q9UGM3 VAR_052995 p.Thr719Met Polymorphism rs2277238 - DMBT1 Q9UGM3 VAR_057981 p.Gly162Glu Unclassified - A glioma cell line DMBT1 Q9UGM3 VAR_057982 p.Asn546Ser Unclassified - A glioma cell line DMBT1 Q9UGM3 VAR_057983 p.Ser1095Pro Polymorphism - - DMBT1 Q9UGM3 VAR_057984 p.Ser1102Thr Polymorphism - - DMBT1 Q9UGM3 VAR_057985 p.Arg1434Trp Polymorphism - - DMBT1 Q9UGM3 VAR_057986 p.Val2255Met Polymorphism - - DMBX1 Q8NFW5 VAR_049578 p.Ala205Pro Polymorphism rs34614765 - DMC1 Q14565 VAR_018960 p.Met200Val Polymorphism rs2227914 - DMC1 Q14565 VAR_061757 p.Gly150Asp Polymorphism rs58396845 - DMD P11532 VAR_005147 p.Leu54Arg Disease - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_005148 p.Gln133Pro Polymorphism rs1800256 - DMD P11532 VAR_005149 p.Ala168Asp Disease - Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_005150 p.Tyr231Asn Disease - Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_005151 p.Gln365His Polymorphism rs1800266 - DMD P11532 VAR_005153 p.Leu623Ile Polymorphism rs1800259 - DMD P11532 VAR_005154 p.Lys773Glu Disease - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_005155 p.Ala784Gly Polymorphism rs1800260 - DMD P11532 VAR_005156 p.Asp882Gly Polymorphism rs228406 - DMD P11532 VAR_005157 p.Val1197Phe Polymorphism rs1800262 - DMD P11532 VAR_005158 p.Thr1245Ile Polymorphism rs1800269 - DMD P11532 VAR_005159 p.Ala1278Pro Polymorphism rs1800270 - DMD P11532 VAR_005160 p.Lys1377Asn Polymorphism rs1800263 - DMD P11532 VAR_005161 p.Gln1469Leu Polymorphism rs1057872 - DMD P11532 VAR_005162 p.Arg1745His Polymorphism rs1801187 - DMD P11532 VAR_005163 p.Arg1844Ser Polymorphism rs1801186 - DMD P11532 VAR_005164 p.Arg2155Trp Polymorphism rs1800273 - DMD P11532 VAR_005165 p.Arg2191Trp Polymorphism - - DMD P11532 VAR_005167 p.Lys2366Gln Polymorphism rs1800275 - DMD P11532 VAR_005168 p.Glu2910Val Polymorphism rs41305353 - DMD P11532 VAR_005169 p.Asn2912Asp Polymorphism rs1800278 - DMD P11532 VAR_005170 p.His2921Arg Disease rs1800279 Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_005171 p.Gln2937Arg Polymorphism rs1800280 - DMD P11532 VAR_005172 p.Ala3421Val Disease - Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_023537 p.Lys18Asn Disease - Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045] DMD P11532 VAR_023538 p.Asp165Val Unclassified - - DMD P11532 VAR_023539 p.Ala171Pro Disease - Becker muscular dystrophy (BMD) [MIM:300376] DMD P11532 VAR_023540 p.Thr279Ala Disease - Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045] DMD P11532 VAR_023541 p.Asp645Gly Disease - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_023542 p.Asn1672Lys Disease rs16990264 Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045] DMD P11532 VAR_023543 p.Asn2299Thr Polymorphism - - DMD P11532 VAR_023544 p.Phe3228Leu Disease - Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045] DMD P11532 VAR_023545 p.Cys3313Phe Unclassified - - DMD P11532 VAR_023546 p.Asp3335His Disease - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_023547 p.Cys3340Tyr Disease - Duchenne muscular dystrophy (DMD) [MIM:310200] DMD P11532 VAR_036353 p.Leu334Phe Unclassified - A colorectal cancer sample DMD P11532 VAR_036354 p.Glu1219Gln Unclassified - A breast cancer sample DMD P11532 VAR_036355 p.Arg1470His Unclassified - A breast cancer sample DMD P11532 VAR_036356 p.Ala2164Val Unclassified - A colorectal cancer sample DMD P11532 VAR_057642 p.Thr409Ser Polymorphism rs34155804 - DMD P11532 VAR_057643 p.Ala573Val Polymorphism rs5972599 - DMD P11532 VAR_057644 p.Thr715Ser Polymorphism rs16998350 - DMD P11532 VAR_057645 p.Thr1136Ser Polymorphism rs3827462 - DMD P11532 VAR_057646 p.Phe1388Val Polymorphism rs28715870 - DMD P11532 VAR_057647 p.Arg2108Cys Polymorphism rs16990169 - DMD P11532 VAR_062110 p.Ser666Leu Polymorphism rs34563188 - DMD P11532 VAR_065764 p.Trp118Arg Unclassified - - DMGDH Q9UI17 VAR_011505 p.His109Arg Disease - DMGDH deficiency (DMGDHD) [MIM:605850] DMGDH Q9UI17 VAR_014950 p.Ser279Pro Polymorphism rs532964 - DMGDH Q9UI17 VAR_014951 p.Ala530Gly Polymorphism rs1805073 - DMGDH Q9UI17 VAR_014952 p.Ser646Pro Polymorphism rs1805074 - DMKN Q6E0U4 VAR_042720 p.Ala13Asp Unclassified - A colorectal cancer sample DMKN Q6E0U4 VAR_042721 p.Ala415Ser Polymorphism rs2293696 - DMKN Q6E0U4 VAR_047337 p.Asp427Ala Polymorphism rs909072 - DMKN Q6E0U4 VAR_056865 p.Glu69Asp Polymorphism rs12460932 - DMKN Q6E0U4 VAR_056866 p.Asn139Ser Polymorphism rs7247001 - DMKN Q6E0U4 VAR_059652 p.Val91Ala Polymorphism rs4806163 - DMKN Q6E0U4 VAR_059653 p.Gly280Ser Polymorphism rs11667007 - DMP1 Q13316 VAR_030750 p.Ser69Cys Polymorphism rs10019009 - DMP1 Q13316 VAR_030751 p.Asp117Asn Unclassified - One individual with tumoral calcinosis DMP1 Q13316 VAR_030752 p.Arg272His Polymorphism - - DMP1 Q13316 VAR_033848 p.Lys463Arg Polymorphism rs34661425 - DMPK Q09013 VAR_040452 p.Leu428Val Unclassified - A lung small cell carcinoma sample DMPK Q09013 VAR_058334 p.Leu423Val Polymorphism rs527221 - DMRT1 Q9Y5R6 VAR_009954 p.Ser45Thr Polymorphism rs3739583 - DMRT1 Q9Y5R6 VAR_009955 p.Tyr221Ser Polymorphism - - DMRT1 Q9Y5R6 VAR_009956 p.Arg281Ser Polymorphism - - DMRT1 Q9Y5R6 VAR_009957 p.Pro295Leu Polymorphism - - DMRT3 Q9NQL9 VAR_030591 p.Ala164Thr Polymorphism rs10978001 - DMRT3 Q9NQL9 VAR_030592 p.Asn261Thr Polymorphism rs7854621 - DMRT3 Q9NQL9 VAR_030593 p.Gly356Val Polymorphism rs16927037 - DMRTA1 Q5VZB9 VAR_036331 p.Arg342Cys Unclassified - A colorectal cancer sample DMTF1 Q9Y222 VAR_039577 p.Val479Ile Polymorphism rs1558049 - DMXL1 Q9Y485 VAR_057589 p.Ile221Met Polymorphism rs7700801 - DMXL1 Q9Y485 VAR_057590 p.Ser851Asn Polymorphism rs4895362 - DMXL1 Q9Y485 VAR_057591 p.Val2067Met Polymorphism rs9790916 - DMXL1 Q9Y485 VAR_057592 p.Thr2107Ser Polymorphism rs9791092 - DMXL2 Q8TDJ6 VAR_057593 p.Thr497Met Polymorphism rs17524906 - DMXL2 Q8TDJ6 VAR_057594 p.Asn903Asp Polymorphism rs16953073 - DMXL2 Q8TDJ6 VAR_057595 p.Ser1288Pro Polymorphism rs12102203 - DMXL2 Q8TDJ6 VAR_057596 p.Asp1481Gly Polymorphism rs35349640 - DMXL2 Q8TDJ6 VAR_062094 p.Glu144Gln Polymorphism rs35097381 - DNAAF1 Q8NEP3 VAR_047662 p.Asp387Glu Polymorphism rs36062234 - DNAAF1 Q8NEP3 VAR_047663 p.Lys393Arg Polymorphism rs17856705 - DNAAF1 Q8NEP3 VAR_047664 p.Glu432Asp Polymorphism rs9972733 - DNAAF1 Q8NEP3 VAR_047665 p.Pro502Leu Polymorphism rs11644164 - DNAAF1 Q8NEP3 VAR_047666 p.Phe545Cys Polymorphism rs17856706 - DNAAF1 Q8NEP3 VAR_047667 p.Leu633Ser Polymorphism rs2288020 - DNAAF1 Q8NEP3 VAR_047668 p.Leu659Pro Polymorphism rs2288022 - DNAAF1 Q8NEP3 VAR_047669 p.Leu659Val Polymorphism rs2288021 - DNAAF1 Q8NEP3 VAR_047670 p.Ser675Thr Polymorphism rs2288023 - DNAAF1 Q8NEP3 VAR_047671 p.Gly703Arg Polymorphism rs4150188 - DNAAF1 Q8NEP3 VAR_047672 p.Pro712Ala Polymorphism rs4150187 - DNAAF1 Q8NEP3 VAR_063098 p.Leu175Arg Disease - Primary ciliary dyskinesia type 13 (CILD13) [MIM:613193] DNAAF2 Q9NVR5 VAR_024309 p.Asp768Gly Polymorphism rs9989177 - DNAAF2 Q9NVR5 VAR_057788 p.Glu62Asp Polymorphism rs2985684 - DNAAF3 Q8N9W5 VAR_055306 p.Glu292Gly Polymorphism rs2365725 - DNAAF3 Q8N9W5 VAR_055307 p.Gly331Trp Polymorphism rs7508641 - DNAAF3 Q8N9W5 VAR_055308 p.Asp365Asn Polymorphism rs890872 - DNAH10 Q8IVF4 VAR_038916 p.Ile480Val Polymorphism rs10846559 - DNAH10 Q8IVF4 VAR_060135 p.Ser167Pro Polymorphism rs11057353 - DNAH10 Q8IVF4 VAR_060136 p.Thr1724Met Polymorphism rs34934281 - DNAH10 Q8IVF4 VAR_060137 p.Asp1767Glu Polymorphism rs7969937 - DNAH10 Q8IVF4 VAR_060138 p.Arg1865Lys Polymorphism rs35685787 - DNAH10 Q8IVF4 VAR_060139 p.Arg2403Trp Polymorphism rs7977449 - DNAH10 Q8IVF4 VAR_060140 p.Asn2483Ser Polymorphism rs11835416 - DNAH10 Q8IVF4 VAR_062177 p.Thr1986Met Polymorphism rs33935373 - DNAH11 Q96DT5 VAR_013851 p.Glu34Leu Unclassified - - DNAH11 Q96DT5 VAR_013852 p.Gln639Arg Polymorphism rs12670130 - DNAH11 Q96DT5 VAR_013853 p.Ser654Cys Polymorphism - - DNAH11 Q96DT5 VAR_013854 p.Val1023Ala Polymorphism rs10269582 - DNAH11 Q96DT5 VAR_013855 p.Thr1038Ala Polymorphism rs10224537 - DNAH11 Q96DT5 VAR_013856 p.Asp1640Gly Polymorphism rs17144835 - DNAH11 Q96DT5 VAR_013857 p.Ser2641Asn Polymorphism rs9639393 - DNAH11 Q96DT5 VAR_013858 p.Ile2682Val Polymorphism - - DNAH11 Q96DT5 VAR_013859 p.Arg3004Gln Disease rs35865357 Primary ciliary dyskinesia type 7 (CILD7) [MIM:611884] DNAH11 Q96DT5 VAR_013860 p.Ala3474Thr Polymorphism rs2214326 - DNAH11 Q96DT5 VAR_013861 p.Leu3715Val Polymorphism rs4722064 - DNAH11 Q96DT5 VAR_013862 p.Ser3765Pro Polymorphism rs17145720 - DNAH11 Q96DT5 VAR_013863 p.Thr4177Ile Polymorphism rs12537531 - DNAH11 Q96DT5 VAR_042944 p.Glu34Val Polymorphism rs2285944 - DNAH11 Q96DT5 VAR_042945 p.Met1316Val Polymorphism rs17144788 - DNAH11 Q96DT5 VAR_042946 p.Met4172Val Polymorphism rs6461613 - DNAH11 Q96DT5 VAR_060141 p.Tyr2593His Polymorphism rs2003417 - DNAH12 Q6ZR08 VAR_034829 p.Val32Ala Polymorphism rs9311651 - DNAH12 Q6ZR08 VAR_034830 p.Ser139Asn Polymorphism rs6778837 - DNAH12 Q6ZR08 VAR_034831 p.Asp224Glu Polymorphism rs6445902 - DNAH12 Q6ZR08 VAR_034832 p.Thr231Ala Polymorphism rs7629743 - DNAH12 Q6ZR08 VAR_037390 p.Tyr2740Phe Polymorphism rs17057989 - DNAH12 Q6ZR08 VAR_037391 p.Gly2893Ser Polymorphism rs4060726 - DNAH12 Q6ZR08 VAR_060142 p.Thr467Pro Polymorphism rs6806444 - DNAH12 Q6ZR08 VAR_060143 p.Asp1549Asn Polymorphism rs6773904 - DNAH12 Q6ZR08 VAR_060144 p.Tyr1704His Polymorphism rs4462937 - DNAH12 Q6ZR08 VAR_060145 p.Arg1748Cys Polymorphism rs17050836 - DNAH12 Q6ZR08 VAR_060146 p.Lys1754Asn Polymorphism rs17793014 - DNAH12 Q6ZR08 VAR_060147 p.Thr1763Ile Polymorphism rs4681982 - DNAH14 Q0VDD8 VAR_032116 p.Thr220Ser Polymorphism rs41267347 - DNAH14 Q0VDD8 VAR_032117 p.Pro274Leu Polymorphism rs41267349 - DNAH14 Q0VDD8 VAR_057764 p.Lys2671Glu Polymorphism rs6667999 - DNAH17 Q9UFH2 VAR_039581 p.Asp492Asn Polymorphism rs34868091 - DNAH17 Q9UFH2 VAR_062178 p.Ile792Val Polymorphism rs16971526 - DNAH17 Q9UFH2 VAR_062179 p.Ile963Thr Polymorphism rs11651537 - DNAH17 Q9UFH2 VAR_062180 p.Met1958Val Polymorphism rs691652 - DNAH1 Q9P2D7 VAR_038912 p.Glu205Asp Polymorphism rs10460963 - DNAH1 Q9P2D7 VAR_038913 p.Val441Leu Polymorphism rs13060192 - DNAH1 Q9P2D7 VAR_038914 p.Val1502Met Polymorphism rs17052095 - DNAH1 Q9P2D7 VAR_038915 p.Arg1663Cys Polymorphism rs17052097 - DNAH1 Q9P2D7 VAR_062176 p.Asn2384Ser Polymorphism rs56002041 - DNAH1 Q9P2D7 VAR_064924 p.His3897Arg Polymorphism rs365048 - DNAH2 Q9P225 VAR_039407 p.Ala100Val Polymorphism rs35664870 - DNAH2 Q9P225 VAR_039408 p.Ser312Thr Polymorphism rs3744254 - DNAH2 Q9P225 VAR_039409 p.Glu1326Gly Polymorphism rs11868946 - DNAH2 Q9P225 VAR_039410 p.Arg2548His Polymorphism rs11656500 - DNAH2 Q9P225 VAR_039411 p.Thr3600Ile Polymorphism rs7213894 - DNAH2 Q9P225 VAR_060134 p.Arg2904His Polymorphism rs2309808 - DNAH3 Q8TD57 VAR_039412 p.Ile484Leu Unclassified - A colorectal cancer sample DNAH3 Q8TD57 VAR_039413 p.Arg545Trp Polymorphism rs16970910 - DNAH3 Q8TD57 VAR_039414 p.Ile1565Met Polymorphism rs330150 - DNAH3 Q8TD57 VAR_039415 p.Val1583Ile Polymorphism rs16970832 - DNAH3 Q8TD57 VAR_039416 p.Ser1608Phe Unclassified - A colorectal cancer sample DNAH3 Q8TD57 VAR_039417 p.Thr1752Met Polymorphism rs13332291 - DNAH3 Q8TD57 VAR_039418 p.Ile2399Asn Polymorphism rs34179606 - DNAH3 Q8TD57 VAR_039419 p.Ile2804Val Polymorphism rs12929546 - DNAH3 Q8TD57 VAR_039420 p.Lys2949Thr Polymorphism rs33928718 - DNAH3 Q8TD57 VAR_039421 p.Glu3457Lys Polymorphism rs3743695 - DNAH3 Q8TD57 VAR_039422 p.Leu3639Ile Polymorphism rs34771199 - DNAH3 Q8TD57 VAR_039423 p.Arg3645Cys Polymorphism rs12924551 - DNAH3 Q8TD57 VAR_039424 p.Arg3744Trp Polymorphism rs2301620 - DNAH5 Q8TE73 VAR_019603 p.His12Gln Polymorphism rs339445 - DNAH5 Q8TE73 VAR_019604 p.Gly24Glu Polymorphism rs1530496 - DNAH5 Q8TE73 VAR_019605 p.Thr558Ala Polymorphism rs1530498 - DNAH5 Q8TE73 VAR_019606 p.Gln2463Arg Polymorphism rs10078391 - DNAH5 Q8TE73 VAR_019607 p.Leu2862Phe Polymorphism rs10513155 - DNAH5 Q8TE73 VAR_019608 p.Gly3519Arg Disease - Kartagener syndrome (KTGS) [MIM:244400] DNAH5 Q8TE73 VAR_019609 p.Ala4134Val Polymorphism rs30168 - DNAH5 Q8TE73 VAR_019610 p.Thr4220Ala Polymorphism rs2277046 - DNAH5 Q8TE73 VAR_019611 p.Ile4450Val Polymorphism rs3734110 - DNAH5 Q8TE73 VAR_027903 p.Ile766Leu Polymorphism rs4701997 - DNAH5 Q8TE73 VAR_027904 p.Ser1006Gly Polymorphism rs16902886 - DNAH5 Q8TE73 VAR_027905 p.Met1081Val Polymorphism rs16902880 - DNAH5 Q8TE73 VAR_027906 p.Thr3791Ile Polymorphism rs17263496 - DNAH5 Q8TE73 VAR_030705 p.Arg1716Leu Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030706 p.Ser2264Asn Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030707 p.Glu2347Lys Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030708 p.Arg2501Pro Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030709 p.Phe2843Ser Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030710 p.Trp3409Ser Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030711 p.Ser3843Leu Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_030712 p.Gly4205Val Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] DNAH5 Q8TE73 VAR_053840 p.Leu591Arg Polymorphism rs35090077 - DNAH5 Q8TE73 VAR_053841 p.Leu591Val Polymorphism rs35090077 - DNAH5 Q8TE73 VAR_053842 p.Gln620Lys Polymorphism rs34076967 - DNAH5 Q8TE73 VAR_053843 p.Lys765Asn Polymorphism rs4701997 - DNAH5 Q8TE73 VAR_053844 p.Arg2425His Polymorphism rs35900306 - DNAH7 Q8WXX0 VAR_038580 p.His169Pro Polymorphism rs1072599 - DNAH7 Q8WXX0 VAR_038581 p.Ala280Thr Polymorphism rs2375643 - DNAH7 Q8WXX0 VAR_038582 p.Ile315Val Polymorphism rs17838596 - DNAH7 Q8WXX0 VAR_038583 p.Ser438Asn Polymorphism rs16843720 - DNAH7 Q8WXX0 VAR_038584 p.Arg545Cys Polymorphism rs10931715 - DNAH7 Q8WXX0 VAR_038585 p.Asp565His Polymorphism rs2635718 - DNAH7 Q8WXX0 VAR_038586 p.Lys675Glu Polymorphism rs10198893 - DNAH7 Q8WXX0 VAR_038587 p.Lys825Glu Polymorphism rs6719500 - DNAH7 Q8WXX0 VAR_038588 p.Pro1422Thr Polymorphism rs168192 - DNAH7 Q8WXX0 VAR_038589 p.Glu1525Lys Polymorphism rs13415574 - DNAH7 Q8WXX0 VAR_038590 p.Arg1886Gln Polymorphism rs13034775 - DNAH7 Q8WXX0 VAR_038591 p.Pro1940Leu Polymorphism rs2375544 - DNAH7 Q8WXX0 VAR_038592 p.Pro1971Leu Polymorphism rs2889109 - DNAH7 Q8WXX0 VAR_038593 p.Met2020Thr Polymorphism rs10184131 - DNAH7 Q8WXX0 VAR_038594 p.Asn2459Lys Polymorphism rs16841199 - DNAH7 Q8WXX0 VAR_038595 p.Thr2569Ile Polymorphism rs2293066 - DNAH7 Q8WXX0 VAR_038596 p.Ile2809Val Polymorphism rs16841018 - DNAH7 Q8WXX0 VAR_038597 p.Leu3319Pro Polymorphism rs13411834 - DNAH7 Q8WXX0 VAR_038598 p.Arg3386His Polymorphism rs6708527 - DNAH8 Q96JB1 VAR_030171 p.Asn71Ser Polymorphism rs6935293 - DNAH8 Q96JB1 VAR_030172 p.Gly473Arg Polymorphism rs1738254 - DNAH8 Q96JB1 VAR_030173 p.Ile573Val Polymorphism rs3823430 - DNAH8 Q96JB1 VAR_030174 p.Ala727Thr Polymorphism rs1678674 - DNAH8 Q96JB1 VAR_030175 p.Gly807Glu Polymorphism rs874808 - DNAH8 Q96JB1 VAR_030176 p.Glu1202Lys Polymorphism rs9357283 - DNAH8 Q96JB1 VAR_030177 p.Thr2444Asn Polymorphism rs862432 - DNAH8 Q96JB1 VAR_030178 p.Thr4106Met Polymorphism rs1537232 - DNAH8 Q96JB1 VAR_030179 p.Ile4271Val Polymorphism rs10484847 - DNAH8 Q96JB1 VAR_036213 p.Thr2226Met Unclassified - A colorectal cancer sample DNAH9 Q9NYC9 VAR_036214 p.Arg771Leu Unclassified - A breast cancer sample DNAH9 Q9NYC9 VAR_036215 p.Asp2653His Unclassified - A breast cancer sample DNAH9 Q9NYC9 VAR_036216 p.Thr3664Asn Unclassified - A breast cancer sample DNAH9 Q9NYC9 VAR_046312 p.Arg151His Polymorphism rs17599639 - DNAH9 Q9NYC9 VAR_046313 p.Gln445Arg Polymorphism rs9892256 - DNAH9 Q9NYC9 VAR_046314 p.Arg842Trp Polymorphism rs16945138 - DNAH9 Q9NYC9 VAR_046315 p.Arg1158Trp Polymorphism rs8070501 - DNAH9 Q9NYC9 VAR_046316 p.Thr1221Ala Polymorphism rs9916482 - DNAH9 Q9NYC9 VAR_046317 p.Met2087Val Polymorphism rs9892290 - DNAH9 Q9NYC9 VAR_046318 p.Asn2195Ser Polymorphism rs3744581 - DNAH9 Q9NYC9 VAR_046319 p.Gln2438His Polymorphism rs2277658 - DNAH9 Q9NYC9 VAR_046320 p.Lys2961Arg Polymorphism rs11870983 - DNAH9 Q9NYC9 VAR_046321 p.Lys2968Asn Polymorphism rs11871037 - DNAH9 Q9NYC9 VAR_046322 p.Arg3726Gln Polymorphism rs16945431 - DNAH9 Q9NYC9 VAR_046323 p.Arg3726Trp Polymorphism rs3760436 - DNAH9 Q9NYC9 VAR_046324 p.Asp4036Asn Polymorphism rs17612861 - DNAH9 Q9NYC9 VAR_046325 p.Met4374Ile Polymorphism rs1990236 - DNAH9 Q9NYC9 VAR_046326 p.Arg4443Cys Polymorphism rs9913494 - DNAH9 Q9NYC9 VAR_046327 p.Trp4462Arg Polymorphism rs8074656 - DNAI1 Q9UI46 VAR_016774 p.Ala8Ser Polymorphism rs11547035 - DNAI1 Q9UI46 VAR_016775 p.Gly515Ser Disease - Kartagener syndrome (KTGS) [MIM:244400] DNAI1 Q9UI46 VAR_033876 p.Ala60Val Polymorphism rs16931549 - DNAI1 Q9UI46 VAR_033877 p.Gln326His Polymorphism rs16931555 - DNAI1 Q9UI46 VAR_033878 p.Val335Ile Polymorphism rs11793196 - DNAI1 Q9UI46 VAR_033879 p.Val487Gly Polymorphism rs11999454 - DNAI2 Q9GZS0 VAR_033880 p.Ala558Thr Polymorphism rs1979370 - DNAI2 Q9GZS0 VAR_061140 p.Val495Ile Polymorphism rs28725418 - DNAJA3 Q96EY1 VAR_027965 p.Asn75Tyr Polymorphism rs4785963 - DNAJB11 Q9UBS4 VAR_016092 p.Ile264Val Polymorphism rs8147 - DNAJB12 Q9NXW2 VAR_017864 p.Glu304Lys Polymorphism rs3750784 - DNAJB2 P25686 VAR_048910 p.Gly270Arg Polymorphism rs34127289 - DNAJB3 Q8WWF6 VAR_061142 p.Asp85Glu Polymorphism rs34622615 - DNAJB3 Q8WWF6 VAR_061143 p.Asp98Glu Polymorphism rs34150486 - DNAJB7 Q7Z6W7 VAR_017779 p.Glu41Ala Polymorphism rs2269619 - DNAJB8 Q8NHS0 VAR_033881 p.Met153Leu Polymorphism rs35948511 - DNAJB9 Q9UBS3 VAR_048911 p.Arg136His Polymorphism rs17155937 - DNAJC10 Q8IXB1 VAR_031247 p.Asp76Asn Polymorphism rs6729801 - DNAJC10 Q8IXB1 VAR_031248 p.Tyr414Cys Polymorphism rs11681366 - DNAJC10 Q8IXB1 VAR_031249 p.His646Gln Polymorphism rs288334 - DNAJC10 Q8IXB1 VAR_048912 p.Leu347Ile Polymorphism rs13414223 - DNAJC11 Q9NVH1 VAR_027078 p.Val267Met Polymorphism rs12137794 - DNAJC11 Q9NVH1 VAR_027079 p.Thr290Ala Polymorphism rs200454 - DNAJC11 Q9NVH1 VAR_055703 p.Thr290Ser Polymorphism rs200454 - DNAJC12 Q9UKB3 VAR_048913 p.Met124Ile Polymorphism rs35690028 - DNAJC12 Q9UKB3 VAR_048914 p.Cys129Trp Polymorphism rs36099123 - DNAJC13 O75165 VAR_047458 p.Ala1463Ser Polymorphism rs3762672 - DNAJC13 O75165 VAR_047459 p.Phe1487Cys Polymorphism rs4405917 - DNAJC13 O75165 VAR_047460 p.Val1995Ile Polymorphism rs10935014 - DNAJC13 O75165 VAR_061144 p.Pro1515Ser Polymorphism rs55825559 - DNAJC15 Q9Y5T4 VAR_027077 p.Arg35Gly Polymorphism rs11617079 - DNAJC21 Q5F1R6 VAR_036163 p.Asp214Asn Unclassified - A breast cancer sample DNAJC21 Q5F1R6 VAR_061145 p.Glu433Lys Polymorphism rs34908091 - DNAJC24 Q6P3W2 VAR_036397 p.Asn22Asp Unclassified - A breast cancer sample DNAJC30 Q96LL9 VAR_024433 p.Gly34Arg Polymorphism rs1128349 - DNAJC30 Q96LL9 VAR_048915 p.Phe167Leu Polymorphism rs13244259 - DNAJC5G Q8N7S2 VAR_033882 p.Val4Gly Polymorphism rs17005979 - DNAJC5G Q8N7S2 VAR_033883 p.His51Arg Polymorphism rs13414011 - DNAJC6 O75061 VAR_026908 p.Ser671Asn Polymorphism rs4915691 - DNAL1 Q4LDG9 VAR_065739 p.Asn150Ser Disease - Primary ciliary dyskinesia type 16 (CILD16) [MIM:614017] DNALI1 O14645 VAR_014473 p.Ala65Val Polymorphism rs11749 - DNALI1 O14645 VAR_035701 p.Ile120Met Unclassified - A colorectal cancer sample DNASE1L1 P49184 VAR_048869 p.Val122Ile Polymorphism rs34952165 - DNASE1L3 Q13609 VAR_036079 p.Leu19Val Unclassified - A breast cancer sample DNASE1L3 Q13609 VAR_036080 p.Gly82Arg Unclassified - A breast cancer sample DNASE1L3 Q13609 VAR_036081 p.Tyr117Ser Unclassified - A colorectal cancer sample DNASE1L3 Q13609 VAR_059249 p.Asn96Lys Polymorphism rs12491947 - DNASE1L3 Q13609 VAR_061137 p.Arg206Cys Polymorphism rs35677470 - DNASE1 P24855 VAR_002264 p.Gln31Glu Polymorphism - - DNASE1 P24855 VAR_002265 p.Pro154Ala Polymorphism rs1799891 - DNASE1 P24855 VAR_002266 p.Arg244Gln Polymorphism rs1053874 - DNASE1 P24855 VAR_009300 p.Val114Met Polymorphism - - DNASE1 P24855 VAR_009301 p.Arg207Cys Polymorphism - - DNASE1 P24855 VAR_024434 p.Arg2Ser Polymorphism rs8176927 - DNASE1 P24855 VAR_024435 p.Gly127Arg Polymorphism rs8176919 - DNASE1 P24855 VAR_029172 p.Arg107Gly Polymorphism rs8176928 - DNASE1 P24855 VAR_029173 p.Cys231Tyr Polymorphism rs8176940 - DNASE1 P24855 VAR_029174 p.Ala246Pro Polymorphism rs8176939 - DNASE1 P24855 VAR_029175 p.Gly262Asp Polymorphism rs8176924 - DNASE2B Q8WZ79 VAR_048872 p.Lys47Arg Polymorphism rs3754274 - DNASE2B Q8WZ79 VAR_059250 p.Gln3His Polymorphism rs3738573 - DNASE2B Q8WZ79 VAR_059251 p.Arg51Lys Polymorphism rs3754274 - DNASE2 O00115 VAR_012044 p.Arg314Leu Polymorphism rs1061192 - DNASE2 O00115 VAR_048870 p.Arg39Ile Polymorphism rs36075196 - DNASE2 O00115 VAR_048871 p.His204Arg Polymorphism rs16978744 - DNER Q8NFT8 VAR_028380 p.Pro433Leu Polymorphism rs17853365 - DNHD1 Q96M86 VAR_033353 p.Arg1358Cys Polymorphism rs12574381 - DNHD1 Q96M86 VAR_033354 p.Lys1896Asn Polymorphism rs16915277 - DNHD1 Q96M86 VAR_033355 p.Phe2041Leu Polymorphism rs11825154 - DNHD1 Q96M86 VAR_037388 p.Arg3830His Polymorphism rs10769699 - DNHD1 Q96M86 VAR_037389 p.Ile4666Thr Polymorphism rs11604362 - DNHD1 Q96M86 VAR_039308 p.Val240Glu Polymorphism rs2555158 - DNHD1 Q96M86 VAR_039309 p.Asp317Asn Polymorphism rs2555152 - DNHD1 Q96M86 VAR_039310 p.His418Tyr Polymorphism rs4758423 - DNHD1 Q96M86 VAR_039311 p.Gln560Glu Polymorphism rs11603869 - DNHD1 Q96M86 VAR_056829 p.Gln279Pro Polymorphism rs11605196 - DNHD1 Q96M86 VAR_056830 p.Phe403Leu Polymorphism rs11040904 - DNLZ Q5SXM8 VAR_053993 p.Pro169His Polymorphism rs3812553 - DNLZ Q5SXM8 VAR_053994 p.Ser178Thr Polymorphism rs3812552 - DNM1L O00429 VAR_022446 p.Ser71Thr Polymorphism rs1064610 - DNM1L O00429 VAR_030489 p.Glu426Asp Polymorphism rs2389105 - DNM1L O00429 VAR_063704 p.Ala395Asp Disease - Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [MIM:614388] DNM1P46 Q6ZS02 VAR_032224 p.Leu147Val Polymorphism rs4965539 - DNM1 Q05193 VAR_048904 p.Asp744Asn Polymorphism rs1042007 - DNM2 P50570 VAR_031961 p.Pro263Leu Polymorphism rs3745674 - DNM2 P50570 VAR_031962 p.Glu368Lys Disease - Centronuclear myopathy type 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_031963 p.Arg369Gln Disease - Centronuclear myopathy type 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_031964 p.Arg369Trp Disease - Centronuclear myopathy type 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_031965 p.Arg465Trp Disease - Centronuclear myopathy type 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_031967 p.Lys562Glu Disease - Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482] DNM2 P50570 VAR_039041 p.Ala618Thr Disease - Centronuclear myopathy type 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_039042 p.Ser619Leu Disease - Centronuclear myopathy type 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_039043 p.Ser619Trp Disease - Centronuclear myopathy type 1 (CNM1) [MIM:160150] DNM2 P50570 VAR_062574 p.Gly537Cys Disease - Charcot-Marie-Tooth disease type 2M (CMT2M) [MIM:606482] DNM2 P50570 VAR_062575 p.Leu570His Disease - Charcot-Marie-Tooth disease type 2M (CMT2M) [MIM:606482] DNM2 P50570 VAR_062576 p.Glu650Lys Disease - Centronuclear myopathy type 1 (CNM1) [MIM:160150] DNMBP Q6XZF7 VAR_024339 p.Cys1413Trp Polymorphism rs11190305 - DNMBP Q6XZF7 VAR_050955 p.Glu81Asp Polymorphism rs12267912 - DNMBP Q6XZF7 VAR_050956 p.Asn373Lys Polymorphism rs35924554 - DNMBP Q6XZF7 VAR_050957 p.Asn914Lys Polymorphism rs7919507 - DNMT1 P26358 VAR_024605 p.His97Arg Polymorphism rs16999593 - DNMT1 P26358 VAR_051960 p.Ile311Val Polymorphism rs2228612 - DNMT3B Q9UBC3 VAR_011499 p.Ala603Thr Disease rs121908943 Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011500 p.Gly663Ser Disease rs121908942 Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011501 p.Val726Gly Disease rs121908941 Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011503 p.Asp817Gly Disease rs121908939 Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011504 p.Val818Met Disease rs121908940 Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011506 p.Ala585Val Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011507 p.Val606Ala Disease rs146981624 Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011508 p.Val699Gly Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011509 p.Ala766Pro Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_011510 p.His814Arg Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_022579 p.Ser270Pro Disease rs121908947 Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_022580 p.Leu664Pro Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_022581 p.Arg840Gln Disease rs121908946 Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] DNMT3B Q9UBC3 VAR_033885 p.Arg54Pro Polymorphism rs17123590 - DNMT3L Q9UJW3 VAR_051962 p.Arg278Gly Polymorphism rs7354779 - DNTTIP1 Q9H147 VAR_014956 p.Ala183Thr Polymorphism rs408911 - DNTTIP2 Q5QJE6 VAR_038748 p.Glu309Asp Polymorphism rs3747965 - DNTTIP2 Q5QJE6 VAR_038749 p.Thr341Ala Polymorphism rs3179879 - DNTTIP2 Q5QJE6 VAR_038750 p.Ala430Val Polymorphism rs35650636 - DNTTIP2 Q5QJE6 VAR_038751 p.Tyr676Phe Polymorphism rs12748154 - DNTTIP2 Q5QJE6 VAR_061710 p.Gly477Glu Polymorphism rs41292661 - DNTT P04053 VAR_058200 p.Arg112Gly Polymorphism rs6584066 - DOC2A Q14183 VAR_019656 p.Gly48Ser Polymorphism rs1140239 - DOC2B Q14184 VAR_065743 p.Arg209Leu Unclassified - - DOCK11 Q5JSL3 VAR_034854 p.Ile813Phe Polymorphism rs16995229 - DOCK1 Q14185 VAR_059971 p.Ala1793Thr Polymorphism rs869801 - DOCK2 Q92608 VAR_015822 p.Ser1746Thr Polymorphism rs2270898 - DOCK2 Q92608 VAR_022137 p.Thr1779Ser Polymorphism rs2270898 - DOCK2 Q92608 VAR_053064 p.Asp1558Ala Polymorphism rs13179480 - DOCK4 Q8N1I0 VAR_015823 p.Thr87Ile Unclassified - A CNS cancer cell line DOCK4 Q8N1I0 VAR_015824 p.Glu606Gln Polymorphism - - DOCK4 Q8N1I0 VAR_015825 p.Lys1059Thr Unclassified - A CNS cancer cell line DOCK4 Q8N1I0 VAR_015826 p.Pro1718Leu Unclassified - Ovarian cancer cell lines DOCK4 Q8N1I0 VAR_015827 p.Pro1733Ala Polymorphism - - DOCK4 Q8N1I0 VAR_015828 p.Ser1755Pro Unclassified - Colorectal cancer cell line DOCK4 Q8N1I0 VAR_015829 p.Val1884Met Unclassified - A prostate cancer cell line DOCK4 Q8N1I0 VAR_015830 p.Val1914Ile Polymorphism rs12705795 - DOCK4 Q8N1I0 VAR_015831 p.Pro1917Leu Polymorphism - - DOCK4 Q8N1I0 VAR_015832 p.Ser1926Leu Polymorphism rs34597439 - DOCK4 Q8N1I0 VAR_057517 p.Asn535Asp Polymorphism rs12705801 - DOCK4 Q8N1I0 VAR_057518 p.Arg853His Polymorphism rs2074130 - DOCK4 Q8N1I0 VAR_057519 p.Arg1570Lys Polymorphism rs3757650 - DOCK4 Q8N1I0 VAR_057520 p.Phe1580Leu Polymorphism rs3757651 - DOCK4 Q8N1I0 VAR_057521 p.Gln1822Lys Polymorphism rs10281942 - DOCK5 Q9H7D0 VAR_033886 p.Gln250Arg Polymorphism rs17053341 - DOCK5 Q9H7D0 VAR_033887 p.Glu1836Lys Polymorphism rs35688737 - DOCK5 Q9H7D0 VAR_053065 p.Gln1023Arg Polymorphism rs2271111 - DOCK5 Q9H7D0 VAR_053066 p.Lys1285Arg Polymorphism rs2659585 - DOCK6 Q96HP0 VAR_029830 p.Pro250Leu Polymorphism rs12978266 - DOCK6 Q96HP0 VAR_029831 p.Pro555Leu Polymorphism rs12609039 - DOCK6 Q96HP0 VAR_029832 p.Gly665Arg Polymorphism rs17001264 - DOCK6 Q96HP0 VAR_029833 p.Val1420Leu Polymorphism rs8108071 - DOCK6 Q96HP0 VAR_057522 p.Arg826Cys Polymorphism rs35881692 - DOCK6 Q96HP0 VAR_057523 p.Ala1442Thr Polymorphism rs34243815 - DOCK7 Q96N67 VAR_057524 p.Ile824Thr Polymorphism rs35400360 - DOCK8 Q8NF50 VAR_033888 p.Pro97Thr Polymorphism rs529208 - DOCK8 Q8NF50 VAR_033889 p.Glu237Lys Polymorphism rs11789099 - DOCK8 Q8NF50 VAR_033890 p.Asn413Ser Polymorphism rs10970979 - DOCK8 Q8NF50 VAR_033891 p.Ala597Val Polymorphism rs17673268 - DOCK8 Q8NF50 VAR_033892 p.Arg1008Trp Polymorphism rs16937932 - DOCK8 Q8NF50 VAR_033893 p.Ala1970Pro Polymorphism rs34908836 - DOCK8 Q8NF50 VAR_059972 p.Glu169Lys Polymorphism rs11789099 - DOCK8 Q8NF50 VAR_063753 p.Lys473Arg Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES) [MIM:243700] DOCK9 Q9BZ29 VAR_053067 p.Lys1416Glu Polymorphism rs16955934 - DOCK9 Q9BZ29 VAR_062000 p.Ala455Thr Polymorphism rs56010605 - DOK2 O60496 VAR_030951 p.Ala152Pro Polymorphism rs1140295 - DOK2 O60496 VAR_030952 p.Ser394Ala Polymorphism rs2242241 - DOK2 O60496 VAR_053068 p.Pro274Leu Polymorphism rs34215892 - DOK3 Q7L591 VAR_057525 p.Arg12Pro Polymorphism rs3749728 - DOK3 Q7L591 VAR_062002 p.Gly22Arg Polymorphism rs41275297 - DOK7 Q18PE1 VAR_027544 p.Gly180Ala Disease - Myasthenia, limb-girdle, familial (LGM) [MIM:254300] DOK7 Q18PE1 VAR_027545 p.Asp197Asn Polymorphism rs16844422 - DOK7 Q18PE1 VAR_027546 p.Arg261His Polymorphism rs16844460 - DOK7 Q18PE1 VAR_027547 p.Gln296Arg Polymorphism rs6811423 - DOK7 Q18PE1 VAR_027548 p.Pro415Ser Polymorphism rs16844464 - DOK7 Q18PE1 VAR_027549 p.Gly427Asp Polymorphism rs2020433 - DOK7 Q18PE1 VAR_027550 p.Arg451Trp Polymorphism rs16844470 - DOK7 Q18PE1 VAR_027551 p.Gly461Asp Polymorphism rs9684786 - DOK7 Q18PE1 VAR_031246 p.Arg158Gln Disease rs6811423 Myasthenia, limb-girdle, familial (LGM) [MIM:254300] DOK7 Q18PE1 VAR_050508 p.Gly379Arg Polymorphism rs6831659 - DOLK Q9UPQ8 VAR_032851 p.Cys99Ser Disease - Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768] DOLK Q9UPQ8 VAR_032852 p.Tyr441Ser Disease - Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768] DOLK Q9UPQ8 VAR_049709 p.Asp224Val Polymorphism rs17485436 - DOM3Z O77932 VAR_027492 p.Ser28Thr Polymorphism rs1056694 - DOM3Z O77932 VAR_027493 p.Asp63Glu Polymorphism rs2746396 - DOM3Z O77932 VAR_027494 p.His261Gln Polymorphism rs17207867 - DOM3Z O77932 VAR_027495 p.Ala332Val Polymorphism rs12205138 - DOPEY1 Q5JWR5 VAR_034690 p.Arg596Gln Polymorphism rs4706980 - DOPEY1 Q5JWR5 VAR_034691 p.Gln1781Leu Polymorphism rs9444039 - DOPEY1 Q5JWR5 VAR_036607 p.Asp1155His Unclassified - A breast cancer sample DOPEY2 Q9Y3R5 VAR_027939 p.Cys1118Gly Polymorphism rs4817788 - DOPEY2 Q9Y3R5 VAR_027940 p.Pro1149His Polymorphism rs3746866 - DOPEY2 Q9Y3R5 VAR_027941 p.Arg1217Ser Polymorphism rs3746867 - DOPEY2 Q9Y3R5 VAR_027942 p.Gly2139Glu Polymorphism rs3827183 - DOPEY2 Q9Y3R5 VAR_034688 p.Ser1021Trp Polymorphism rs7278340 - DOT1L Q8TEK3 VAR_014287 p.Leu726Met Polymorphism rs880525 - DOT1L Q8TEK3 VAR_014288 p.Gly1386Ser Polymorphism rs3815308 - DOT1L Q8TEK3 VAR_014289 p.Val1418Leu Polymorphism rs2302061 - DPAGT1 Q9H3H5 VAR_011391 p.Ile393Val Polymorphism rs643788 - DPAGT1 Q9H3H5 VAR_017243 p.Tyr170Cys Disease rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093] DPAGT1 Q9H3H5 VAR_036422 p.Met9Ile Unclassified - A breast cancer sample DPCD Q9BVM2 VAR_039574 p.Ser56Arg Polymorphism - - DPCD Q9BVM2 VAR_039575 p.Leu156Ser Polymorphism rs7006 - DPCR1 Q3MIW9 VAR_038857 p.Gly337Arg Polymorphism rs11970154 - DPCR1 Q3MIW9 VAR_038858 p.Glu419Lys Polymorphism rs3132580 - DPCR1 Q3MIW9 VAR_038859 p.Arg517Gln Polymorphism rs2240804 - DPEP1 P16444 VAR_036496 p.Arg246His Unclassified - A colorectal cancer sample DPEP1 P16444 VAR_061375 p.Glu351Lys Polymorphism rs1126464 - DPEP1 P16444 VAR_061376 p.Glu351Gln Polymorphism rs1126464 - DPEP2 Q9H4A9 VAR_033894 p.His468Asp Polymorphism rs1133090 - DPEP2 Q9H4A9 VAR_060230 p.Pro201Arg Polymorphism rs255051 - DPF3 Q92784 VAR_047771 p.Arg177His Polymorphism rs17855717 - DPH1 Q9BZG8 VAR_036702 p.Ala7Val Unclassified - Ovarian cancer DPH1 Q9BZG8 VAR_036703 p.Ala34Asp Unclassified - Ovarian cancer DPH1 Q9BZG8 VAR_036704 p.Leu335Val Unclassified rs35394823 Ovarian cancer DPH1 Q9BZG8 VAR_036705 p.Ser389Arg Unclassified - Ovarian cancer DPH1 Q9BZG8 VAR_055706 p.Lys226Arg Polymorphism rs1131600 - DPH1 Q9BZG8 VAR_059255 p.Ile51Met Polymorphism rs8070453 - DPM1 O60762 VAR_012341 p.Arg92Gly Disease - Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799] DPM1 O60762 VAR_019841 p.Ser248Pro Disease - Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799] DPM2 O94777 VAR_033895 p.Thr76Ser Polymorphism rs7997 - DPM3 Q9P2X0 VAR_062518 p.Leu85Ser Disease - Congenital disorder of glycosylation type 1O (CDG1O) [MIM:612937] DPP10 Q8N608 VAR_057061 p.Ala340Pro Polymorphism rs2053724 - DPP10 Q8N608 VAR_057062 p.Ser517Asn Polymorphism rs13421193 - DPP10 Q8N608 VAR_059759 p.Val401Ile Polymorphism rs1446495 - DPP3 Q9NY33 VAR_021850 p.Arg678His Polymorphism rs2305535 - DPP3 Q9NY33 VAR_033494 p.Arg76His Polymorphism rs11826683 - DPP3 Q9NY33 VAR_033495 p.Gln145His Polymorphism rs11550299 - DPP3 Q9NY33 VAR_051597 p.Glu690Lys Polymorphism rs12421620 - DPP6 P42658 VAR_051579 p.Leu854Pro Polymorphism rs3734960 - DPP7 Q9UHL4 VAR_047087 p.Ala89Gly Polymorphism rs10747049 - DPPA2 Q7Z7J5 VAR_028087 p.Arg131Gln Polymorphism rs9809030 - DPPA3 Q6W0C5 VAR_030533 p.Glu51Gln Polymorphism rs2024320 - DPPA4 Q7L190 VAR_060372 p.Ile55Val Polymorphism rs3762648 - DPPA4 Q7L190 VAR_060373 p.Ser226Phe Polymorphism rs3905734 - DPT Q07507 VAR_048888 p.Val201Ile Polymorphism rs6698023 - DPY19L1 Q2PZI1 VAR_037332 p.Gly502Val Polymorphism rs1637696 - DPY19L2P2 Q6ZN68 VAR_043009 p.Met66Val Polymorphism rs7796589 - DPY19L2P2 Q6ZN68 VAR_043010 p.Asn333Ile Polymorphism rs17136078 - DPY19L2 Q6NUT2 VAR_037333 p.Met37Val Polymorphism rs10878075 - DPY19L2 Q6NUT2 VAR_037334 p.Ala41Val Polymorphism rs10878074 - DPY19L2 Q6NUT2 VAR_037335 p.Ser51Ala Polymorphism rs10878073 - DPY19L2 Q6NUT2 VAR_062214 p.Val757Ile Polymorphism rs12314553 - DPY19L3 Q6ZPD9 VAR_037336 p.Met350Val Polymorphism rs8105178 - DPYD Q12882 VAR_005173 p.Cys29Arg Disease rs1801265 Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270] DPYD Q12882 VAR_005174 p.Arg235Trp Disease rs1801266 Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270] DPYD Q12882 VAR_005175 p.Ser534Asn Polymorphism rs1801158 - DPYD Q12882 VAR_005176 p.Ile543Val Polymorphism rs1801159 - DPYD Q12882 VAR_005177 p.Arg886His Disease rs1801267 Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270] DPYD Q12882 VAR_005178 p.Val995Phe Polymorphism rs1801268 - DPYD Q12882 VAR_014760 p.Val732Ile Polymorphism rs1801160 - DPYD Q12882 VAR_054034 p.Met166Val Polymorphism rs2297595 - DPYSL2 Q16555 VAR_022016 p.Ala118Thr Polymorphism rs2289593 - DPYSL2 Q16555 VAR_036316 p.Arg481Cys Unclassified - A colorectal cancer sample DPYSL3 Q14195 VAR_020485 p.Ala442Ser Polymorphism rs2304044 - DPYS Q14117 VAR_002267 p.Thr68Arg Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748] DPYS Q14117 VAR_002268 p.Gln334Arg Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748] DPYS Q14117 VAR_002269 p.Trp360Arg Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748] DPYS Q14117 VAR_002270 p.Gly435Arg Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748] DPYS Q14117 VAR_002271 p.Arg490Thr Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748] DR1 Q01658 VAR_034506 p.Glu171Asp Polymorphism rs3088371 - DRAXIN Q8NBI3 VAR_030114 p.Leu37Phe Polymorphism rs11121804 - DRD1 P21728 VAR_014670 p.Thr37Pro Polymorphism rs5327 - DRD1 P21728 VAR_014671 p.Thr37Arg Polymorphism rs5328 - DRD1 P21728 VAR_014672 p.Arg50Ser Polymorphism rs5330 - DRD1 P21728 VAR_014673 p.Ser199Ala Polymorphism rs5331 - DRD1 P21728 VAR_064577 p.Lys81Arg Polymorphism - - DRD1 P21728 VAR_064578 p.Ser259Tyr Polymorphism rs74414188 - DRD2 P14416 VAR_003462 p.Ser311Cys Polymorphism rs1801028 - DRD2 P14416 VAR_014674 p.Pro310Ser Polymorphism rs1800496 - DRD2 P14416 VAR_017143 p.Val154Ile Unclassified rs104894220 - DRD2 P14416 VAR_064579 p.Lys327Glu Polymorphism rs71653614 - DRD3 P35462 VAR_003463 p.Ser9Gly Polymorphism rs6280 - DRD4 P21917 VAR_003464 p.Val194Gly Polymorphism rs1800443 - DRD4 P21917 VAR_003467 p.Pro329Ala Polymorphism - - DRD4 P21917 VAR_003468 p.Gly332Ser Polymorphism - - DRD4 P21917 VAR_055914 p.Ala281Pro Polymorphism rs3889692 - DRD5 P21918 VAR_003458 p.Ala269Val Polymorphism rs2227842 - DRD5 P21918 VAR_003459 p.Pro330Gln Polymorphism rs1800762 - DRD5 P21918 VAR_003460 p.Asn351Asp Polymorphism - - DRD5 P21918 VAR_003461 p.Ser453Cys Polymorphism - - DRD5 P21918 VAR_011837 p.Leu88Arg Polymorphism rs6282 - DRD5 P21918 VAR_024254 p.Val238Ile Polymorphism rs2227852 - DRD5 P21918 VAR_029210 p.Cys62Ser Polymorphism rs2227840 - DRD5 P21918 VAR_029211 p.Gly110Glu Polymorphism rs2227849 - DRD5 P21918 VAR_029212 p.Phe207Val Polymorphism rs2227845 - DRD5 P21918 VAR_029213 p.Ser233Asn Polymorphism rs2227843 - DRD5 P21918 VAR_029214 p.Arg247His Polymorphism rs2227847 - DRD5 P21918 VAR_029215 p.Ala286Val Polymorphism rs2227850 - DRD5 P21918 VAR_061217 p.Thr297Pro Polymorphism rs2227851 - DROSHA Q9NRR4 VAR_051866 p.Pro67Thr Polymorphism rs35342496 - DROSHA Q9NRR4 VAR_061778 p.Ser321Leu Polymorphism rs55656741 - DRP2 Q13474 VAR_033898 p.Val68Leu Polymorphism rs7066252 - DSC1 Q08554 VAR_055579 p.Val460Ile Polymorphism rs17800159 - DSC1 Q08554 VAR_055580 p.Cys848Phe Polymorphism rs985861 - DSC1 Q08554 VAR_061059 p.Ser93Phe Polymorphism rs35338395 - DSC2 Q02487 VAR_024388 p.Ile776Val Polymorphism rs1893963 - DSC2 Q02487 VAR_029480 p.Asn11Ser Polymorphism rs868333 - DSC2 Q02487 VAR_062391 p.Thr358Ile Polymorphism - - DSC2 Q02487 VAR_062392 p.Arg798Gln Polymorphism - - DSC2 Q02487 VAR_065687 p.Arg203Cys Disease - Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476] DSC2 Q02487 VAR_065688 p.Ile231Thr Disease - Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476] DSC2 Q02487 VAR_065689 p.Thr275Met Disease - Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476] DSC2 Q02487 VAR_065690 p.Thr340Ala Disease - Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476] DSC2 Q02487 VAR_065691 p.Ala596Val Polymorphism - - DSC2 Q02487 VAR_065692 p.Gln638His Polymorphism - - DSC3 Q14574 VAR_048515 p.Ala28Asp Polymorphism rs2852003 - DSC3 Q14574 VAR_048516 p.Ser78Thr Polymorphism rs276937 - DSC3 Q14574 VAR_048517 p.Arg102Lys Polymorphism rs276938 - DSC3 Q14574 VAR_048518 p.Lys180Gln Polymorphism rs35296997 - DSC3 Q14574 VAR_048519 p.Arg199Trp Polymorphism rs276921 - DSC3 Q14574 VAR_048520 p.Asn239Ser Polymorphism rs35630063 - DSCAML1 Q8TD84 VAR_035512 p.Val659Ile Unclassified - A colorectal cancer sample DSCAML1 Q8TD84 VAR_035513 p.Val1702Ile Unclassified - A colorectal cancer sample DSCAM O60469 VAR_020080 p.Asp232Glu Polymorphism rs2297270 - DSCC1 Q9BVC3 VAR_038682 p.His376Arg Polymorphism rs1055130 - DSCR9 P59020 VAR_024340 p.Arg76Leu Polymorphism rs13864 - DSCR9 P59020 VAR_033849 p.Gly23Val Polymorphism rs1888464 - DSEL Q8IZU8 VAR_030833 p.Pro673Ser Polymorphism rs2279269 - DSEL Q8IZU8 VAR_030834 p.Tyr730Cys Polymorphism rs12953840 - DSEL Q8IZU8 VAR_036528 p.Lys1090Glu Unclassified - A colorectal cancer sample DSEL Q8IZU8 VAR_057759 p.Thr832Ser Polymorphism rs35479856 - DSE Q9UL01 VAR_034481 p.Thr25Ile Polymorphism rs10485183 - DSE Q9UL01 VAR_053833 p.Pro34Leu Polymorphism rs35548455 - DSE Q9UL01 VAR_053834 p.Ile282Val Polymorphism rs34994230 - DSG1 Q02413 VAR_020364 p.Tyr841Phe Polymorphism rs3752095 - DSG1 Q02413 VAR_024385 p.Asn493Thr Polymorphism rs8091003 - DSG1 Q02413 VAR_024386 p.Thr498Asn Polymorphism rs8091117 - DSG1 Q02413 VAR_055573 p.Thr395Ser Polymorphism rs16961655 - DSG1 Q02413 VAR_055574 p.Tyr528Ser Polymorphism rs16961689 - DSG1 Q02413 VAR_055575 p.Asp538Asn Polymorphism rs34302455 - DSG1 Q02413 VAR_055576 p.Met665Ile Polymorphism rs35360042 - DSG1 Q02413 VAR_055577 p.Leu821Gln Polymorphism rs16961692 - DSG1 Q02413 VAR_060248 p.Met11Val Polymorphism rs1426310 - DSG1 Q02413 VAR_060249 p.Asp828Asn Polymorphism rs3752094 - DSG2 Q14126 VAR_029365 p.Arg46Gln Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] DSG2 Q14126 VAR_029366 p.Arg49His Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] DSG2 Q14126 VAR_029367 p.Cys507Tyr Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] DSG2 Q14126 VAR_029368 p.Gly812Cys Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] DSG2 Q14126 VAR_048508 p.Tyr89Cys Polymorphism rs2230232 - DSG2 Q14126 VAR_048509 p.Ile293Val Polymorphism rs2230234 - DSG2 Q14126 VAR_048510 p.Val515Ile Polymorphism rs2230235 - DSG2 Q14126 VAR_048511 p.Arg773Lys Polymorphism rs2278792 - DSG2 Q14126 VAR_048512 p.Met863Leu Polymorphism rs16962093 - DSG2 Q14126 VAR_048513 p.Thr903Ile Polymorphism rs34065672 - DSG2 Q14126 VAR_062387 p.Val56Met Unclassified - - DSG2 Q14126 VAR_062388 p.Val158Gly Polymorphism - - DSG2 Q14126 VAR_062389 p.Glu713Lys Polymorphism - - DSG2 Q14126 VAR_062390 p.Val920Gly Polymorphism - - DSG2 Q14126 VAR_065686 p.Thr335Ala Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] DSG3 P32926 VAR_055578 p.Val509Met Polymorphism rs16961975 - DSG3 P32926 VAR_059178 p.Thr912Ala Polymorphism rs1380866 - DSG4 Q86SJ6 VAR_024387 p.Ile644Leu Polymorphism rs4799570 - DSG4 Q86SJ6 VAR_033700 p.Ile535Thr Polymorphism rs7229252 - DSG4 Q86SJ6 VAR_048514 p.Ala154Thr Polymorphism rs13381457 - DSP P15924 VAR_015402 p.Ser299Arg Disease - Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450] DSP P15924 VAR_015569 p.Asn287Lys Disease - Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655] DSP P15924 VAR_015570 p.Arg2366Cys Disease rs28931610 Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655] DSP P15924 VAR_018158 p.Gly2375Arg Unclassified - - DSP P15924 VAR_020468 p.Tyr1512Cys Polymorphism rs2076299 - DSP P15924 VAR_023814 p.Arg1255Lys Disease - Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450] DSP P15924 VAR_023815 p.Arg1738Gln Polymorphism rs6929069 - DSP P15924 VAR_023816 p.Arg1775Ile Disease rs34738426 Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450] DSP P15924 VAR_033862 p.Ile305Phe Polymorphism rs17604693 - DSP P15924 VAR_065693 p.Ile445Val Disease - Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450] DSP P15924 VAR_065694 p.Ala1505Val Polymorphism - - DSP P15924 VAR_065695 p.Asn1526Lys Polymorphism - - DSP P15924 VAR_065696 p.Arg1537Cys Polymorphism - - DSP P15924 VAR_065697 p.Glu1833Val Polymorphism - - DSPP Q9NZW4 VAR_012280 p.Pro17Thr Disease rs28929492 Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594] DSPP Q9NZW4 VAR_012281 p.Val18Phe Disease - Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594] DSPP Q9NZW4 VAR_012281 p.Val18Phe Disease - Dentinogenesis imperfecta Shields type 3 (DGI3) [MIM:125500] DSPP Q9NZW4 VAR_030661 p.Arg68Trp Polymorphism rs36094464 - DSPP Q9NZW4 VAR_036861 p.Tyr6Asp Disease - Dentin dysplasia type 2 (DTDP2) [MIM:125420] DSPP Q9NZW4 VAR_036862 p.Ala15Val Unclassified - - DSPP Q9NZW4 VAR_047551 p.Asp243Asn Polymorphism rs3750025 - DSPP Q9NZW4 VAR_054443 p.Pro17Ser Unclassified - - DSTN P60981 VAR_036459 p.Gly139Glu Unclassified - A colorectal cancer sample DST Q03001 VAR_063045 p.Asn1319Lys Polymorphism rs35014998 - DST Q03001 VAR_063046 p.Gln2332Arg Polymorphism rs16888053 - DST Q03001 VAR_063047 p.Gln3720Arg Polymorphism rs4712138 - DST Q03001 VAR_063048 p.Thr5138Ala Polymorphism rs4715631 - DSTYK Q6XUX3 VAR_057101 p.Leu432Val Polymorphism rs35845538 - DTD2 Q96FN9 VAR_028802 p.Arg6Trp Polymorphism rs17097904 - DTHD1 Q6ZMT9 VAR_046339 p.Gly26Arg Polymorphism rs16992035 - DTHD1 Q6ZMT9 VAR_046340 p.Val179Asp Polymorphism rs1995319 - DTHD1 Q6ZMT9 VAR_046341 p.Arg552Cys Polymorphism rs12507599 - DTHD1 Q6ZMT9 VAR_046342 p.Arg662His Polymorphism rs9654132 - DTL Q9NZJ0 VAR_030353 p.Ala436Val Polymorphism rs3135474 - DTL Q9NZJ0 VAR_030354 p.Lys694Thr Polymorphism rs6540718 - DTL Q9NZJ0 VAR_062095 p.Ser425Asn Polymorphism rs35137676 - DTNA Q9Y4J8 VAR_026744 p.Pro121Leu Disease - Left ventricular non-compaction type 1 (LVNC1) [MIM:604169] DTNA Q9Y4J8 VAR_055320 p.Ala180Glu Polymorphism rs1048081 - DTNBP1 Q96EV8 VAR_029644 p.Pro272Ser Polymorphism rs17470454 - DTNBP1 Q96EV8 VAR_053069 p.Gly214Asp Polymorphism rs16876589 - DTWD1 Q8N5C7 VAR_036757 p.Leu9Pro Polymorphism rs11539522 - DTWD1 Q8N5C7 VAR_036758 p.Glu13Lys Polymorphism rs11539519 - DTWD1 Q8N5C7 VAR_036759 p.Ser25Pro Polymorphism rs11539521 - DTX2 Q86UW9 VAR_016920 p.Ala94Thr Polymorphism rs2462312 - DTX2 Q86UW9 VAR_016921 p.Gly384Glu Polymorphism rs1638152 - DTX2 Q86UW9 VAR_016922 p.Thr421Ala Polymorphism rs6979487 - DTX3L Q8TDB6 VAR_036098 p.Lys209Asn Unclassified - A breast cancer sample DTX3L Q8TDB6 VAR_048895 p.Arg425Lys Polymorphism rs2332285 - DTX3L Q8TDB6 VAR_048896 p.Lys668Met Polymorphism rs9868175 - DUOX1 Q9NRD9 VAR_025321 p.Cys1026Arg Polymorphism rs16939752 - DUOX1 Q9NRD9 VAR_025322 p.Leu1178Phe Polymorphism rs2458236 - DUOX1 Q9NRD9 VAR_049104 p.Ile962Thr Polymorphism rs16939743 - DUOX2 Q9NRD8 VAR_025323 p.Gln36His Disease - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] DUOX2 Q9NRD8 VAR_025324 p.Pro138Leu Polymorphism rs2001616 - DUOX2 Q9NRD8 VAR_025325 p.Arg376Trp Disease - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] DUOX2 Q9NRD8 VAR_047075 p.Ser1067Leu Polymorphism rs269868 - DUOX2 Q9NRD8 VAR_061177 p.His678Arg Polymorphism rs57659670 - DUOX2 Q9NRD8 VAR_064619 p.Gly1518Ser Disease - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] DUOXA1 Q1HG43 VAR_029630 p.Ser313Gly Polymorphism rs16977686 - DUOXA1 Q1HG43 VAR_057753 p.Pro19Leu Polymorphism rs34734975 - DUOXA2 Q1HG44 VAR_047367 p.Arg100Gly Polymorphism rs2576090 - DUPD1 Q68J44 VAR_033376 p.Ser137Arg Polymorphism rs16931938 - DUPD1 Q68J44 VAR_051757 p.Asp66Asn Polymorphism rs11594934 - DUS3L Q96G46 VAR_027092 p.Arg185Gly Polymorphism rs2436487 - DUS3L Q96G46 VAR_027093 p.Asp609Asn Polymorphism rs12977803 - DUS4L O95620 VAR_027094 p.Arg230Gln Polymorphism rs6957510 - DUS4L O95620 VAR_048938 p.Thr178Ala Polymorphism rs6956789 - DUSP12 Q9UNI6 VAR_033899 p.Ala51Glu Polymorphism rs35106830 - DUSP13 Q6B8I1 VAR_058495 p.Lys73Arg Polymorphism rs7912300 - DUSP13 Q9UII6 VAR_025431 p.Cys156Tyr Polymorphism rs3088142 - DUSP13 Q9UII6 VAR_057130 p.Arg62Gln Polymorphism rs16932004 - DUSP13 Q9UII6 VAR_057131 p.Arg190Gly Polymorphism rs16931996 - DUSP16 Q9BY84 VAR_051753 p.Thr23Met Polymorphism rs36049447 - DUSP16 Q9BY84 VAR_051754 p.Val366Met Polymorphism rs3809199 - DUSP19 Q8WTR2 VAR_051755 p.Ser216Arg Polymorphism rs16823987 - DUSP1 P28562 VAR_025201 p.Ala56Thr Polymorphism rs34013988 - DUSP1 P28562 VAR_025202 p.Tyr187His Polymorphism rs34471628 - DUSP21 Q9H596 VAR_019423 p.Met186Thr Polymorphism rs1045031 - DUSP21 Q9H596 VAR_035644 p.Arg167Cys Unclassified - A colorectal cancer sample DUSP22 Q9NRW4 VAR_026912 p.Arg119His Polymorphism rs7768224 - DUSP23 Q9BVJ7 VAR_023199 p.Gly131Ser Polymorphism rs1129923 - DUSP23 Q9BVJ7 VAR_051756 p.Glu124Val Polymorphism rs11544443 - DUSP27 Q5VZP5 VAR_034964 p.Glu265Asp Polymorphism rs267745 - DUSP27 Q5VZP5 VAR_034965 p.Arg466His Polymorphism rs6668826 - DUSP27 Q5VZP5 VAR_034966 p.Ala505Thr Polymorphism rs3795605 - DUSP27 Q5VZP5 VAR_034967 p.Lys855Gln Polymorphism rs267746 - DUSP27 Q5VZP5 VAR_034968 p.Thr1124Asn Polymorphism rs2281959 - DUSP5 Q16690 VAR_020298 p.Glu154Asp Polymorphism rs2282238 - DUSP5 Q16690 VAR_047368 p.Pro322Leu Polymorphism rs35101549 - DUSP5 Q16690 VAR_059777 p.Ala220Thr Polymorphism rs1889566 - DUSP5 Q16690 VAR_059778 p.Ala220Val Polymorphism rs1889565 - DUSP6 Q16828 VAR_015113 p.Val114Leu Polymorphism rs2279574 - DUSP6 Q16828 VAR_051750 p.Ser144Ala Polymorphism rs770087 - DUSP6 Q16828 VAR_051751 p.Asn313Ile Polymorphism rs12828557 - DUSP7 Q16829 VAR_051752 p.Ser235Asn Polymorphism rs34821455 - DUT P33316 VAR_022314 p.Pro100Ser Polymorphism rs28381104 - DUX5 Q96PT3 VAR_059347 p.Ala60Val Polymorphism rs10865697 - DUX5 Q96PT3 VAR_059348 p.Pro118Leu Polymorphism rs9755233 - DUX5 Q96PT3 VAR_059349 p.Gln119Pro Polymorphism rs12374009 - DUX5 Q96PT3 VAR_059350 p.Ser180Ala Polymorphism rs12632317 - DUX5 Q96PT3 VAR_059351 p.Ser180Thr Polymorphism rs12632317 - DVL2 O14641 VAR_064708 p.Ile282Thr Unclassified - - DVL3 Q92997 VAR_025519 p.Trp433Leu Polymorphism rs17853048 - DVL3 Q92997 VAR_036116 p.Arg216Thr Unclassified - A breast cancer sample DYDC2 Q96IM9 VAR_048889 p.Gly143Ser Polymorphism rs1047951 - DYM Q7RTS9 VAR_022740 p.Glu87Lys Disease - Smith-McCort dysplasia (SMC) [MIM:607326] DYM Q7RTS9 VAR_054499 p.Asn469Tyr Disease - Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800] DYM Q7RTS9 VAR_065293 p.Cys542Arg Disease - Smith-McCort dysplasia (SMC) [MIM:607326] DYNAP Q8N1N2 VAR_033751 p.Val38Ala Polymorphism rs35428499 - DYNAP Q8N1N2 VAR_033752 p.Thr189Pro Polymorphism rs9947055 - DYNC1H1 Q14204 VAR_020889 p.Asp3902Asn Polymorphism rs17512818 - DYNC1H1 Q14204 VAR_020890 p.His4029Gln Polymorphism rs10129889 - DYNC1H1 Q14204 VAR_065085 p.His3822Pro Disease - Mental retardation autosomal dominant type 13 (MRD13) [MIM:614563] DYNC1I1 O14576 VAR_048905 p.Asn582Thr Polymorphism rs35077523 - DYNC1I1 O14576 VAR_064709 p.His373Leu Unclassified - - DYNC1LI1 Q9Y6G9 VAR_023325 p.Gln277Arg Polymorphism rs2303857 - DYNC1LI1 Q9Y6G9 VAR_061141 p.Met147Thr Polymorphism rs34181332 - DYNC2H1 Q8NCM8 VAR_038862 p.Thr302Pro Polymorphism rs12803695 - DYNC2H1 Q8NCM8 VAR_038863 p.Gln304Leu Polymorphism rs12146610 - DYNC2H1 Q8NCM8 VAR_038864 p.His341Tyr Polymorphism rs17301182 - DYNC2H1 Q8NCM8 VAR_038865 p.Arg456Gln Polymorphism rs17099969 - DYNC2H1 Q8NCM8 VAR_038866 p.Arg789Lys Polymorphism rs7358374 - DYNC2H1 Q8NCM8 VAR_038867 p.Arg1221Lys Polymorphism rs12794914 - DYNC2H1 Q8NCM8 VAR_038868 p.Thr1288Ala Polymorphism rs17301750 - DYNC2H1 Q8NCM8 VAR_038869 p.Lys1413Arg Polymorphism rs688906 - DYNC2H1 Q8NCM8 VAR_038870 p.Arg2871Gln Polymorphism rs589623 - DYNC2H1 Q8NCM8 VAR_038871 p.Ala3680Val Polymorphism rs10895391 - DYNC2H1 Q8NCM8 VAR_038872 p.Ser3976Asn Polymorphism rs4754914 - DYNC2H1 Q8NCM8 VAR_038873 p.Gln4139Pro Polymorphism rs1793493 - DYNC2H1 Q8NCM8 VAR_063242 p.Phe209Ile Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] DYNC2H1 Q8NCM8 VAR_063243 p.Arg587Cys Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] DYNC2H1 Q8NCM8 VAR_063244 p.Ile1240Thr Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063245 p.Gln1537Arg Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063246 p.Thr1987Ala Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] DYNC2H1 Q8NCM8 VAR_063247 p.Met1991Leu Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063248 p.Arg2205His Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] DYNC2H1 Q8NCM8 VAR_063249 p.Gly2461Val Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] DYNC2H1 Q8NCM8 VAR_063250 p.Asp3015Gly Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] DYNC2H1 Q8NCM8 VAR_063251 p.Leu3762Val Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] DYNC2LI1 Q8TCX1 VAR_038874 p.Phe33Ser Polymorphism rs2288709 - DYNC2LI1 Q8TCX1 VAR_038875 p.Pro58Ser Polymorphism rs17854966 - DYNC2LI1 Q8TCX1 VAR_038876 p.Ile230Leu Polymorphism rs11556157 - DYNLRB1 Q9NP97 VAR_049124 p.Ser13Arg Polymorphism rs1063616 - DYNLRB1 Q9NP97 VAR_049125 p.Ile71Phe Polymorphism rs10036 - DYNLRB2 Q8TF09 VAR_049126 p.His14Arg Polymorphism rs13332289 - DYRK1A Q13627 VAR_009395 p.Tyr415Phe Polymorphism - - DYRK1A Q13627 VAR_009396 p.Gln681His Polymorphism - - DYRK1A Q13627 VAR_040453 p.Ala679Pro Polymorphism rs55720916 - DYRK1B Q9Y463 VAR_040454 p.Leu28Pro Polymorphism rs34587974 - DYRK1B Q9Y463 VAR_040455 p.Arg102His Polymorphism rs55687541 - DYRK1B Q9Y463 VAR_040456 p.Ser234Gly Polymorphism rs35858874 - DYRK1B Q9Y463 VAR_040457 p.Gln275Arg Unclassified - A metastatic melanoma sample DYRK2 Q92630 VAR_040458 p.Ser98Gly Polymorphism rs35139851 - DYRK2 Q92630 VAR_040459 p.Pro198Leu Unclassified - A glioblastoma multiforme sample DYRK2 Q92630 VAR_040460 p.His245Asn Polymorphism rs34166200 - DYRK2 Q92630 VAR_040461 p.Asn295Ser Polymorphism rs56293072 - DYRK2 Q92630 VAR_040462 p.Arg451Gln Polymorphism rs35688869 - DYRK2 Q92630 VAR_040463 p.Phe455Tyr Polymorphism rs55774594 - DYRK3 O43781 VAR_040464 p.Met239Leu Polymorphism - - DYRK4 Q9NR20 VAR_010721 p.Val95Ile Polymorphism - - DYRK4 Q9NR20 VAR_010722 p.Asn189Ser Polymorphism rs3741927 - DYRK4 Q9NR20 VAR_014948 p.Asp454Val Polymorphism rs1801016 - DYRK4 Q9NR20 VAR_033900 p.Ala61Thr Polymorphism rs12306130 - DYRK4 Q9NR20 VAR_040465 p.Ala70Ser Polymorphism - - DYSF O75923 VAR_012308 p.Pro791Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_012308 p.Pro791Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_012309 p.Ile1298Val Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_012309 p.Ile1298Val Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_012310 p.His1857Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_012311 p.Arg2042Cys Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_012311 p.Arg2042Cys Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_020308 p.Arg1242His Polymorphism rs2303603 - DYSF O75923 VAR_024853 p.Ala170Glu Disease rs34999029 Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_024853 p.Ala170Glu Disease rs34999029 Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024854 p.Leu189Val Polymorphism rs13407355 - DYSF O75923 VAR_024855 p.Arg253Trp Unclassified - - DYSF O75923 VAR_024856 p.Leu266Pro Unclassified - - DYSF O75923 VAR_024857 p.Gly299Glu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024858 p.Cys456Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024859 p.Arg555Trp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_024859 p.Arg555Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024860 p.Arg959Trp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_024860 p.Arg959Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024861 p.Arg1022Gln Disease rs34211915 Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_024862 p.Arg1038Gln Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_024863 p.Arg1046His Disease rs28939700 Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024865 p.Ile1208Met Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_024866 p.Leu1276Val Unclassified - - DYSF O75923 VAR_024867 p.Arg1331Leu Polymorphism rs61742872 - DYSF O75923 VAR_024868 p.Glu1335Lys Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_024868 p.Glu1335Lys Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024869 p.Asn1351Ser Polymorphism - - DYSF O75923 VAR_024870 p.Arg1693Gln Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_024871 p.Glu1748Val Unclassified - - DYSF O75923 VAR_024872 p.Arg2000Gln Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_035893 p.Ile1325Met Unclassified - A breast cancer sample DYSF O75923 VAR_035894 p.Leu1349Val Unclassified - A breast cancer sample DYSF O75923 VAR_049055 p.Ile834Val Polymorphism rs34671418 - DYSF O75923 VAR_049056 p.Ala1072Pro Polymorphism rs34660230 - DYSF O75923 VAR_057834 p.Trp52Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057835 p.Val67Asp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057835 p.Val67Asp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057836 p.Ala84Val Polymorphism - - DYSF O75923 VAR_057837 p.Gly155Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057838 p.Gly234Glu Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057839 p.Ile284Thr Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057840 p.Gly299Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057841 p.Gly299Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057842 p.Gly335Ala Polymorphism - - DYSF O75923 VAR_057843 p.Ser340Arg Unclassified - - DYSF O75923 VAR_057844 p.Val374Leu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057846 p.Glu389Gln Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057847 p.Asp390Asn Polymorphism - - DYSF O75923 VAR_057848 p.Gly426Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057849 p.Gly426Val Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057850 p.Gly519Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057851 p.Gly618Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057851 p.Gly618Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057852 p.Gly621Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057853 p.Asp625Tyr Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057854 p.Pro731Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057855 p.Arg819Gln Polymorphism - - DYSF O75923 VAR_057856 p.Trp930Cys Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057857 p.Trp999Cys Disease rs28937581 Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057858 p.Pro1029Leu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057859 p.Arg1041Cys Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057860 p.Leu1228Pro Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057861 p.Ile1325Val Polymorphism - - DYSF O75923 VAR_057862 p.Leu1341Pro Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057863 p.Cys1361Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057864 p.Tyr1505Cys Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057865 p.Lys1526Thr Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057866 p.Gly1543Asp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057867 p.Arg1581His Polymorphism - - DYSF O75923 VAR_057868 p.Thr1662Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057869 p.Cys1678Ser Unclassified - - DYSF O75923 VAR_057870 p.Gly1679Glu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057871 p.Arg1693Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057872 p.Glu1734Gly Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057873 p.Arg1768Trp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057874 p.Asp1837Asn Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057875 p.Gly1842Asp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057876 p.Leu1922Pro Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057878 p.Cys1942Gly Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_057879 p.Gly1967Ser Polymorphism - - DYSF O75923 VAR_057880 p.Pro1970Ser Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] DYSF O75923 VAR_057881 p.Pro2068Leu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] DYSF O75923 VAR_061170 p.Arg1096His Polymorphism rs59915619 - DYTN A2CJ06 VAR_050960 p.Tyr241Cys Polymorphism rs16838593 - DYTN A2CJ06 VAR_050961 p.Gln474Lys Polymorphism rs2115591 - DYX1C1 Q8WXU2 VAR_017383 p.Pro2Ser Polymorphism - - DYX1C1 Q8WXU2 VAR_017384 p.Val91Ile Polymorphism rs17819126 - DYX1C1 Q8WXU2 VAR_017385 p.Glu191Gly Polymorphism rs600753 - DYX1C1 Q8WXU2 VAR_017386 p.Ser420Cys Polymorphism - - DYX1C1 Q8WXU2 VAR_026214 p.Asn38Lys Polymorphism rs16976354 - DYX1C1 Q8WXU2 VAR_026215 p.Ala332Val Polymorphism rs17855756 - DZIP1L Q8IYY4 VAR_042756 p.Arg321Trp Polymorphism rs2724693 - DZIP1L Q8IYY4 VAR_042757 p.Thr545Ala Polymorphism rs446644 - DZIP1L Q8IYY4 VAR_042758 p.Ala551Val Polymorphism rs11917468 - DZIP1L Q8IYY4 VAR_042759 p.Arg593His Polymorphism rs374045 - DZIP1L Q8IYY4 VAR_042760 p.Lys645Glu Polymorphism rs442800 - DZIP1 Q86YF9 VAR_019456 p.Pro736Ser Polymorphism rs11070136 - DZIP1 Q86YF9 VAR_052710 p.Thr172Met Polymorphism rs9561921 - DZIP1 Q86YF9 VAR_052711 p.Met664Leu Polymorphism rs34303958 - E2F1 Q01094 VAR_013607 p.Arg252His Polymorphism rs3213172 - E2F1 Q01094 VAR_013608 p.Val276Met Polymorphism rs3213173 - E2F1 Q01094 VAR_013609 p.Thr311Asn Polymorphism rs3213174 - E2F1 Q01094 VAR_013610 p.Gly393Ser Polymorphism rs3213176 - E2F1 Q01094 VAR_048907 p.Gly200Ser Polymorphism rs35385772 - E2F2 Q14209 VAR_018990 p.Gly205Arg Polymorphism rs2229297 - E2F2 Q14209 VAR_018991 p.Gln226His Polymorphism rs2075995 - E2F3 O00716 VAR_014341 p.Gly344Arg Polymorphism rs4134973 - E2F3 O00716 VAR_014342 p.Asp389Asn Polymorphism rs4134982 - E2F4 Q16254 VAR_014936 p.Thr293Pro Polymorphism rs1801013 - E2F5 Q15329 VAR_014348 p.Gly18Ala Polymorphism rs4150841 - E2F7 Q96AV8 VAR_034732 p.Phe72Leu Polymorphism rs310791 - E2F7 Q96AV8 VAR_034733 p.Met626Val Polymorphism rs3829295 - E2F7 Q96AV8 VAR_034734 p.His854Gln Polymorphism rs310831 - E2F8 A0AVK6 VAR_034735 p.Ile674Val Polymorphism rs793274 - E4F1 Q66K89 VAR_060270 p.Arg167His Polymorphism rs26839 - E4F1 Q66K89 VAR_060271 p.Val355Ile Polymorphism rs59784157 - EAPP Q56P03 VAR_031915 p.Gln168Glu Polymorphism rs17856038 - EARS2 Q5JPH6 VAR_028840 p.Ser457Gly Polymorphism rs6497671 - EBF2 Q9HAK2 VAR_048754 p.Gly559Ser Polymorphism rs17054477 - EBI3 Q14213 VAR_024342 p.Val201Ile Polymorphism rs4740 - EBI3 Q14213 VAR_049171 p.Ala174Val Polymorphism rs1803524 - EBNA1BP2 Q99848 VAR_024437 p.Arg223His Polymorphism rs7163 - EBP Q15125 VAR_012105 p.Glu80Lys Disease rs28936073 Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960] EBP Q15125 VAR_012106 p.Arg110Gln Disease - Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960] EBP Q15125 VAR_012107 p.Arg147Gly Disease - Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960] EBP Q15125 VAR_012108 p.Arg147His Disease rs28935174 Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960] ECD O95905 VAR_012191 p.Arg281Gly Polymorphism - - ECD O95905 VAR_051970 p.Arg45Gln Polymorphism rs3812619 - ECD O95905 VAR_051971 p.Glu452Gln Polymorphism rs3736518 - ECD O95905 VAR_051972 p.Asn501Ser Polymorphism rs36152134 - ECD O95905 VAR_051973 p.Asp634Gly Polymorphism rs2271904 - ECE1 P42892 VAR_011972 p.Thr341Ile Polymorphism rs1076669 - ECE1 P42892 VAR_026747 p.Arg754Cys Disease rs3026906 Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) [MIM:613870] ECE1 P42892 VAR_054007 p.Trp630Arg Polymorphism rs2229451 - ECE2 O60344 VAR_037085 p.Arg571Gln Polymorphism rs35875049 - ECE2 O60344 VAR_047752 p.His101Tyr Polymorphism rs7633387 - ECEL1 O95672 VAR_012813 p.His10Gln Polymorphism rs2741281 - ECEL1 O95672 VAR_012814 p.His328Tyr Polymorphism rs1529874 - ECH1 Q13011 VAR_014927 p.Glu41Ala Polymorphism rs9419 - ECH1 Q13011 VAR_033913 p.Gly217Arg Polymorphism rs2229259 - ECHDC2 Q86YB7 VAR_036951 p.Asn119Asp Polymorphism rs17854314 - ECHDC3 Q96DC8 VAR_043126 p.Ala69Thr Polymorphism rs4750090 - ECHDC3 Q96DC8 VAR_043127 p.Ala151Thr Polymorphism rs7910140 - ECHDC3 Q96DC8 VAR_043128 p.Asp162Asn Polymorphism rs35986488 - ECHS1 P30084 VAR_022273 p.Val11Ala Polymorphism rs10466126 - ECHS1 P30084 VAR_022274 p.Thr75Ile Polymorphism rs1049951 - ECI2 O75521 VAR_058493 p.Met47Ile Polymorphism rs3177253 - ECI2 O75521 VAR_058494 p.Ala344Val Polymorphism rs7166 - ECM1 Q16610 VAR_014761 p.Gly415Ser Polymorphism rs13294 - ECM1 Q16610 VAR_014762 p.Gly528Arg Polymorphism rs1050901 - ECM1 Q16610 VAR_014763 p.Ser535Phe Polymorphism rs1050904 - ECM1 Q16610 VAR_018690 p.Thr130Met Polymorphism rs3737240 - ECM1 Q16610 VAR_018691 p.Phe167Ile Disease - Lipoid proteinosis (LiP) [MIM:247100] ECM29 Q5VYK3 VAR_055702 p.Thr472Ser Polymorphism rs16916091 - ECM2 O94769 VAR_024646 p.Gln56Pro Polymorphism rs10120210 - ECM2 O94769 VAR_052010 p.Thr109Ser Polymorphism rs35496743 - ECM2 O94769 VAR_052011 p.Arg204Gln Polymorphism rs34758505 - ECSIT Q9BQ95 VAR_032907 p.Arg278Cys Polymorphism rs34803265 - ECSIT Q9BQ95 VAR_032908 p.Gly406Arg Polymorphism rs2302971 - ECT2L Q008S8 VAR_043482 p.Glu527Lys Polymorphism rs1529151 - ECT2L Q008S8 VAR_043483 p.Ala594Thr Polymorphism rs11968285 - ECT2L Q008S8 VAR_051984 p.Gln483His Polymorphism rs12198781 - ECT2 Q9H8V3 VAR_035975 p.Thr833Pro Unclassified - A breast cancer sample ECT2 Q9H8V3 VAR_047064 p.Ser15Thr Polymorphism rs34703432 - EDA2R Q9HAV5 VAR_044511 p.Arg57Lys Polymorphism rs1385699 - EDA2R Q9HAV5 VAR_044512 p.Thr129Ala Polymorphism rs1385698 - EDA Q92838 VAR_005179 p.Tyr61His Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005180 p.Glu63Lys Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005181 p.Arg69Leu Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005182 p.Arg155Cys Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005183 p.Arg156Cys Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005184 p.Arg156His Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005185 p.Pro209Leu Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005186 p.Gly224Ala Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005187 p.His252Leu Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005188 p.Gly299Ser Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005189 p.Ala349Thr Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005190 p.Ala356Asp Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_005191 p.Arg357Pro Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010611 p.His54Tyr Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010612 p.Leu55Arg Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010613 p.Gly291Arg Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010614 p.Gly291Trp Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_010615 p.Asp298His Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_011077 p.Gly255Cys Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_011078 p.Gly255Asp Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_011079 p.Trp274Gly Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_011080 p.Cys332Tyr Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013484 p.Cys60Arg Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013485 p.His252Tyr Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013486 p.Gly269Val Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013487 p.Phe302Ser Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_013488 p.Thr378Met Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_029534 p.Arg65Gly Disease - Tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_036590 p.Pro118Leu Unclassified - A colorectal cancer sample EDA Q92838 VAR_054454 p.Arg153Cys Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054455 p.Arg156Ser Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054456 p.Lys158Asn Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054460 p.Gly189Glu Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054462 p.Gly198Ala Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054463 p.Gly207Arg Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054464 p.Gly218Asp Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054466 p.Asp298Tyr Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054467 p.Gln306His Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054468 p.Val307Gly Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054469 p.Tyr320Cys Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054470 p.Tyr343Cys Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054471 p.Gln358Glu Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054472 p.Ile360Asn Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054473 p.Asn372Asp Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054474 p.Met373Ile Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054475 p.Ser374Arg Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_054476 p.Thr378Pro Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064858 p.Arg156Gly Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064860 p.Gly207Val Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064861 p.Thr211Arg Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064862 p.Leu266Arg Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064863 p.Trp274Arg Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064864 p.Leu293Pro Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064865 p.Leu296Val Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064866 p.Gly299Asp Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064867 p.Val323Gly Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064868 p.Thr338Met Disease - Tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:313500] EDA Q92838 VAR_064869 p.Cys346Tyr Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064870 p.Ala356Val Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDA Q92838 VAR_064871 p.Gly381Arg Disease - Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] EDARADD Q8WWZ3 VAR_013482 p.Glu152Lys Disease - Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) [MIM:614941] EDARADD Q8WWZ3 VAR_050963 p.Met9Ile Polymorphism rs966365 - EDARADD Q8WWZ3 VAR_054509 p.Ser103Phe Polymorphism - - EDARADD Q8WWZ3 VAR_054510 p.Leu122Arg Disease - Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940] EDARADD Q8WWZ3 VAR_064835 p.Asp114Tyr Disease - Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940] EDAR Q9UNE0 VAR_013448 p.Cys87Arg Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_013449 p.Arg89His Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_013450 p.Arg420Gln Disease - Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A) [MIM:129490] EDAR Q9UNE0 VAR_013450 p.Arg420Gln Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_020011 p.Val370Ala Polymorphism rs3827760 - EDAR Q9UNE0 VAR_054444 p.Cys47Tyr Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054445 p.Asp110Ala Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054446 p.Cys148Arg Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054447 p.Arg375His Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054448 p.Leu377Phe Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054449 p.Gly382Ser Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054450 p.Thr403Met Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054451 p.Thr413Pro Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054452 p.Ile418Thr Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_054453 p.Trp434Cys Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_064830 p.Arg98Gln Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_064831 p.Arg358Gln Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_064833 p.Ile408Phe Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDAR Q9UNE0 VAR_064834 p.Trp434Arg Disease - Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] EDDM3A Q14507 VAR_050968 p.Gly62Cys Polymorphism rs34552133 - EDDM3B P56851 VAR_038946 p.Leu5Val Polymorphism rs3827906 - EDEM2 Q9BV94 VAR_012165 p.Ala456Thr Polymorphism rs3746429 - EDEM2 Q9BV94 VAR_055842 p.Arg510Gln Polymorphism rs6060248 - EDEM2 Q9BV94 VAR_055843 p.Leu556Phe Polymorphism rs1052056 - EDEM3 Q9BZQ6 VAR_059306 p.Ile820Ser Polymorphism rs9425343 - EDN1 P05305 VAR_014188 p.Lys198Asn Polymorphism rs5370 - EDN1 P05305 VAR_048933 p.Val186Ile Polymorphism rs6413478 - EDN2 P20800 VAR_018817 p.Pro168Leu Polymorphism rs11572371 - EDN2 P20800 VAR_033914 p.Phe131Leu Polymorphism rs5798 - EDN3 P14138 VAR_002353 p.Cys159Phe Disease - Waardenburg syndrome type 4 (WS4B) [MIM:613265] EDN3 P14138 VAR_009078 p.Ala17Thr Disease rs11570255 Hirschsprung disease type 4 (HSCR4) [MIM:613712] EDN3 P14138 VAR_009079 p.Ala224Thr Disease rs11570351 Hirschsprung disease type 4 (HSCR4) [MIM:613712] EDN3 P14138 VAR_015238 p.Tyr127Cys Disease - Waardenburg syndrome type 4 (WS4B) [MIM:613265] EDNRA P25101 VAR_035758 p.Ile136Leu Unclassified - A breast cancer sample EDNRB P24530 VAR_003469 p.Gly57Ser Polymorphism rs1801710 - EDNRB P24530 VAR_003470 p.Ala183Gly Disease - Waardenburg syndrome type 4A (WS4A) [MIM:277580] EDNRB P24530 VAR_003471 p.Trp276Cys Disease - Hirschsprung disease type 2 (HSCR2) [MIM:600155] EDNRB P24530 VAR_003472 p.Ser305Asn Disease rs5352 Hirschsprung disease type 2 (HSCR2) [MIM:600155] EDNRB P24530 VAR_003473 p.Arg319Trp Disease - Hirschsprung disease type 2 (HSCR2) [MIM:600155] EDNRB P24530 VAR_003474 p.Met374Ile Disease - Hirschsprung disease type 2 (HSCR2) [MIM:600155] EDNRB P24530 VAR_003475 p.Pro383Leu Disease - Hirschsprung disease type 2 (HSCR2) [MIM:600155] EDNRB P24530 VAR_014675 p.Leu7Gln Polymorphism rs5345 - EDNRB P24530 VAR_014676 p.Leu17Phe Polymorphism rs5346 - EDNRB P24530 VAR_014677 p.Phe112Val Polymorphism rs5347 - EDNRB P24530 VAR_014678 p.Thr244Met Polymorphism rs5350 - EDNRB P24530 VAR_015294 p.Phe292Leu Disease - Waardenburg syndrome type 4A (WS4A) [MIM:277580] EDNRB P24530 VAR_019285 p.Pro5Thr Polymorphism rs12720160 - EDNRB P24530 VAR_024255 p.Arg76Met Polymorphism rs2228271 - EDRF1 Q3B7T1 VAR_035862 p.Asn45Ser Unclassified - A colorectal cancer sample EDRF1 Q3B7T1 VAR_035863 p.Leu95Phe Unclassified - A colorectal cancer sample EEA1 Q15075 VAR_052980 p.Lys810Gln Polymorphism rs10745623 - EEF2K O00418 VAR_033915 p.His23Arg Polymorphism rs9935059 - EEF2K O00418 VAR_033916 p.Pro75Ala Polymorphism rs17841292 - EEF2K O00418 VAR_041534 p.Thr291Met Unclassified - A colorectal adenocarcinoma sample EEF2K O00418 VAR_041535 p.Arg433Trp Polymorphism rs56137739 - EEF2K O00418 VAR_041536 p.Asp609His Polymorphism - - EEF2K O00418 VAR_058405 p.Gln361Arg Polymorphism rs4783453 - EEFSEC P57772 VAR_055712 p.Ala435Val Polymorphism rs34326479 - EEPD1 Q7L9B9 VAR_056867 p.Ala358Ser Polymorphism rs3815682 - EEPD1 Q7L9B9 VAR_056868 p.Pro416Ser Polymorphism rs196594 - EEPD1 Q7L9B9 VAR_060374 p.Ser343Asn Polymorphism rs196586 - EFCAB11 Q9BUY7 VAR_032129 p.Ala15Val Polymorphism rs35435801 - EFCAB11 Q9BUY7 VAR_032130 p.Asp31Gly Polymorphism rs34486581 - EFCAB11 Q9BUY7 VAR_032131 p.Thr45Ala Polymorphism rs34911716 - EFCAB12 Q6NXP0 VAR_033697 p.Glu66Gly Polymorphism rs3774787 - EFCAB12 Q6NXP0 VAR_048667 p.Arg215Gly Polymorphism rs6790768 - EFCAB12 Q6NXP0 VAR_048668 p.Pro541Ser Polymorphism rs12637267 - EFCAB12 Q6NXP0 VAR_061089 p.Pro36Leu Polymorphism rs58932597 - EFCAB12 Q6NXP0 VAR_061090 p.His280Arg Polymorphism rs9836111 - EFCAB13 Q8IY85 VAR_031228 p.Val312Ile Polymorphism rs4968318 - EFCAB13 Q8IY85 VAR_031229 p.Met617Val Polymorphism rs17855599 - EFCAB13 Q8IY85 VAR_035465 p.Gln286His Unclassified - A breast cancer sample EFCAB13 Q8IY85 VAR_061091 p.Ile279Val Polymorphism rs55853213 - EFCAB14 O75071 VAR_048669 p.Leu337Pro Polymorphism rs6665021 - EFCAB3 Q8N7B9 VAR_028377 p.Gly341Arg Polymorphism rs12602985 - EFCAB3 Q8N7B9 VAR_028378 p.Met364Ile Polymorphism rs1056642 - EFCAB3 Q8N7B9 VAR_028379 p.Ser370Ala Polymorphism rs1056643 - EFCAB4A Q8N4Y2 VAR_031479 p.Arg77Gln Polymorphism rs7126805 - EFCAB4A Q8N4Y2 VAR_031480 p.Lys153Glu Polymorphism rs28558789 - EFCAB4A Q8N4Y2 VAR_031481 p.Gly173Ser Polymorphism rs35567200 - EFCAB4A Q8N4Y2 VAR_031482 p.Ser248Ile Polymorphism rs4075289 - EFCAB4B Q9BSW2 VAR_031483 p.Arg7Gly Polymorphism rs9788233 - EFCAB4B Q9BSW2 VAR_031484 p.Ala98Thr Polymorphism rs17836273 - EFCAB4B Q9BSW2 VAR_031485 p.Ala128Val Polymorphism rs242017 - EFCAB4B Q9BSW2 VAR_031486 p.His136Pro Polymorphism rs34088152 - EFCAB4B Q9BSW2 VAR_031487 p.Glu154Lys Polymorphism rs242018 - EFCAB4B Q9BSW2 VAR_031488 p.His212Gln Polymorphism rs36030417 - EFCAB5 A4FU69 VAR_038343 p.Leu237Val Polymorphism rs9897794 - EFCAB5 A4FU69 VAR_038344 p.Ile278Lys Polymorphism rs4795524 - EFCAB5 A4FU69 VAR_038345 p.Arg561Ser Polymorphism rs9900546 - EFCAB5 A4FU69 VAR_048644 p.Ala1145Asp Polymorphism rs9894896 - EFCAB5 A4FU69 VAR_048645 p.Val1252Ala Polymorphism rs4499292 - EFCAB5 A4FU69 VAR_048646 p.Arg1274Thr Polymorphism rs35724168 - EFCAB5 A4FU69 VAR_048647 p.Asp1488Tyr Polymorphism rs5024269 - EFCAB6 Q5THR3 VAR_048648 p.Val166Ala Polymorphism rs16990981 - EFCAB6 Q5THR3 VAR_048649 p.Arg199Gly Polymorphism rs3747203 - EFCAB6 Q5THR3 VAR_048650 p.Thr351Ala Polymorphism rs5764214 - EFCAB6 Q5THR3 VAR_048651 p.Ser384Ala Polymorphism rs6006438 - EFCAB6 Q5THR3 VAR_048652 p.His400Tyr Polymorphism rs137794 - EFCAB6 Q5THR3 VAR_048653 p.Thr680Ala Polymorphism rs137731 - EFCAB6 Q5THR3 VAR_048654 p.Asp780Asn Polymorphism rs12159591 - EFCAB6 Q5THR3 VAR_048655 p.Arg800Trp Polymorphism rs6006514 - EFCAB6 Q5THR3 VAR_048656 p.Ala1059Val Polymorphism rs9614382 - EFCAB7 A8K855 VAR_038493 p.Phe27Ile Polymorphism rs17125106 - EFCAB7 A8K855 VAR_038494 p.Ser186Gly Polymorphism rs9436246 - EFCAB7 A8K855 VAR_038495 p.Thr248Ile Polymorphism rs6693255 - EFCAB7 A8K855 VAR_038496 p.Met262Thr Polymorphism rs6657480 - EFCAB7 A8K855 VAR_038497 p.Arg375Lys Polymorphism rs2273367 - EFCC1 Q9HA90 VAR_050753 p.Arg528Gln Polymorphism rs3732430 - EFEMP1 Q12805 VAR_009512 p.Ile220Phe Polymorphism - - EFEMP1 Q12805 VAR_009513 p.Arg345Trp Disease - Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600] EFEMP2 O95967 VAR_027019 p.Glu57Lys Disease - Cutis laxa, autosomal recessive, type 1B (ARCL1B) [MIM:614437] EFEMP2 O95967 VAR_027020 p.Ile259Val Polymorphism rs601314 - EFHA1 Q8IYU8 VAR_027662 p.Gln260Leu Polymorphism rs17853349 - EFHB Q8N7U6 VAR_027750 p.Val331Ile Polymorphism rs2931403 - EFHB Q8N7U6 VAR_027751 p.Thr382Ile Polymorphism rs2929366 - EFHB Q8N7U6 VAR_027752 p.Gln663Pro Polymorphism rs9868950 - EFHB Q8N7U6 VAR_055296 p.Gly99Val Polymorphism rs17795400 - EFHB Q8N7U6 VAR_055297 p.Pro269Ser Polymorphism rs13078867 - EFHB Q8N7U6 VAR_055298 p.Arg826Trp Polymorphism rs11917204 - EFHC1 Q5JVL4 VAR_023619 p.Pro77Thr Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_023620 p.Arg159Trp Polymorphism rs3804506 - EFHC1 Q5JVL4 VAR_023621 p.Arg182His Polymorphism rs3804505 - EFHC1 Q5JVL4 VAR_023622 p.Asp210Asn Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_023623 p.Arg221His Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_023624 p.Phe229Leu Unclassified - - EFHC1 Q5JVL4 VAR_023625 p.Asp253Tyr Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_023626 p.Ile619Leu Polymorphism rs17851770 - EFHC1 Q5JVL4 VAR_026531 p.Arg285Ile Polymorphism rs17851771 - EFHC1 Q5JVL4 VAR_043154 p.Ile174Val Unclassified - - EFHC1 Q5JVL4 VAR_043155 p.Cys259Tyr Unclassified - - EFHC1 Q5JVL4 VAR_043156 p.Arg294His Polymorphism rs1570624 - EFHC1 Q5JVL4 VAR_043157 p.Arg353Trp Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] EFHC1 Q5JVL4 VAR_043158 p.Ala394Ser Unclassified - - EFHC1 Q5JVL4 VAR_043159 p.Met448Thr Polymorphism rs1266787 - EFHC1 Q5JVL4 VAR_048666 p.Glu357Lys Polymorphism rs505760 - EFHC2 Q5JST6 VAR_027698 p.Asn31Ser Polymorphism rs17146914 - EFHC2 Q5JST6 VAR_027699 p.Glu208Lys Polymorphism rs7062352 - EFHC2 Q5JST6 VAR_027700 p.Ser430Tyr Polymorphism rs2208592 - EFHC2 Q5JST6 VAR_027701 p.Glu507Gln Polymorphism rs3747354 - EFHC2 Q5JST6 VAR_061086 p.Cys57Tyr Polymorphism rs61636783 - EFHD1 Q9BUP0 VAR_047966 p.Lys186Arg Polymorphism rs11550699 - EFNA1 P20827 VAR_014791 p.Asp159Val Polymorphism rs4745 - EFNA3 P52797 VAR_048937 p.Val190Met Polymorphism rs17723260 - EFNA5 P52803 VAR_012035 p.Asn55Lys Polymorphism rs469062 - EFNB1 P98172 VAR_023127 p.Pro27Arg Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023128 p.Pro54Leu Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023129 p.Ile62Thr Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023130 p.Leu98Ser Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023131 p.Thr111Ile Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023132 p.Gln115Pro Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023133 p.Pro119His Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023134 p.Pro119Ser Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023135 p.Pro119Thr Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023136 p.Thr137Ala Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023137 p.Ser138Phe Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023138 p.Gly151Ser Disease rs28936069 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023139 p.Gly151Val Disease rs28936070 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023140 p.Cys153Ser Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023141 p.Cys153Tyr Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023142 p.Arg154His Polymorphism - - EFNB1 P98172 VAR_023143 p.Thr155Pro Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023144 p.Met158Ile Disease rs28935170 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023145 p.Met158Val Disease rs28936071 Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023146 p.Ser182Arg Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110] EFNB1 P98172 VAR_023147 p.Val189Ala Polymorphism rs16989105 - EFNB1 P98172 VAR_059256 p.Thr172Met Polymorphism rs7889678 - EFNB3 Q15768 VAR_002356 p.Arg166Gln Polymorphism - - EFR3A Q14156 VAR_047247 p.Gly358Arg Polymorphism rs2270877 - EFR3A Q14156 VAR_047248 p.Asn365Asp Polymorphism rs1051221 - EFS O43281 VAR_035912 p.Met361Ile Unclassified - A colorectal cancer sample EFS O43281 VAR_054088 p.Thr7Ala Polymorphism rs2231798 - EFS O43281 VAR_054089 p.Val100Met Polymorphism rs2231801 - EFTUD1 Q7Z2Z2 VAR_037746 p.Glu478Asp Polymorphism rs2292189 - EFTUD1 Q7Z2Z2 VAR_037747 p.Ile617Val Polymorphism rs1128431 - EFTUD1 Q7Z2Z2 VAR_037748 p.Lys711Arg Polymorphism rs2292071 - EFTUD2 Q15029 VAR_014931 p.Gly773Val Polymorphism rs1056505 - EGFEM1P Q0D2K5 VAR_044016 p.Gly59Asp Polymorphism rs603638 - EGFEM1P Q0D2K5 VAR_044017 p.Pro157Leu Polymorphism rs678690 - EGFL6 Q8IUX8 VAR_033366 p.Glu66Lys Polymorphism rs16979010 - EGFL6 Q8IUX8 VAR_033367 p.Arg164Cys Polymorphism rs34613284 - EGFL6 Q8IUX8 VAR_033368 p.Leu508Phe Polymorphism rs34550481 - EGFL6 Q8IUX8 VAR_033369 p.Asp535Asn Polymorphism rs16979033 - EGFL7 Q9UHF1 VAR_019791 p.Val153Ile Polymorphism rs2297538 - EGFL7 Q9UHF1 VAR_048981 p.Pro183Ser Polymorphism rs35863900 - EGFL7 Q9UHF1 VAR_048982 p.Ala186Gly Polymorphism rs34142075 - EGFL8 Q99944 VAR_019792 p.Arg86Lys Polymorphism rs3096697 - EGFL8 Q99944 VAR_019793 p.Ala204Glu Polymorphism rs2071289 - EGFL8 Q99944 VAR_048983 p.Gly277Cys Polymorphism rs35587174 - EGFLAM Q63HQ2 VAR_035302 p.Arg111His Polymorphism rs2561111 - EGFLAM Q63HQ2 VAR_035303 p.Trp229Arg Polymorphism rs1465567 - EGFLAM Q63HQ2 VAR_035304 p.Thr473Met Polymorphism rs16903965 - EGFLAM Q63HQ2 VAR_035305 p.His576Asn Polymorphism rs6897179 - EGFLAM Q63HQ2 VAR_055718 p.Arg26Pro Polymorphism rs12522205 - EGFLAM Q63HQ2 VAR_055719 p.Val745Met Polymorphism rs2561818 - EGF P01133 VAR_002275 p.Met708Ile Polymorphism rs2237051 - EGF P01133 VAR_020161 p.Ser16Arg Polymorphism rs11568849 - EGF P01133 VAR_020162 p.Arg431Lys Polymorphism rs11568943 - EGF P01133 VAR_020163 p.Gly723Arg Polymorphism rs6413481 - EGF P01133 VAR_020164 p.Asp784Val Polymorphism rs11569017 - EGF P01133 VAR_020165 p.Met842Thr Polymorphism rs11569046 - EGF P01133 VAR_020166 p.Leu1043Phe Polymorphism rs11569098 - EGF P01133 VAR_020968 p.Asp257His Polymorphism rs11568911 - EGF P01133 VAR_020969 p.Ser638Arg Polymorphism rs11568992 - EGF P01133 VAR_020970 p.Glu920Val Polymorphism rs4698803 - EGF P01133 VAR_020971 p.Asp981Glu Polymorphism rs11569086 - EGF P01133 VAR_020972 p.Ala1084Gly Polymorphism rs11569111 - EGF P01133 VAR_033825 p.His151Tyr Polymorphism rs9991664 - EGF P01133 VAR_033826 p.Leu292His Polymorphism rs35191533 - EGF P01133 VAR_039474 p.Pro1070Leu Disease - Hypomagnesemia type 4 (HOMG4) [MIM:611718] EGFR P00533 VAR_019293 p.Arg98Gln Polymorphism rs17289589 - EGFR P00533 VAR_019294 p.Pro266Arg Polymorphism rs17336639 - EGFR P00533 VAR_019295 p.Arg521Lys Polymorphism rs2227983 - EGFR P00533 VAR_019296 p.Val674Ile Polymorphism rs17337079 - EGFR P00533 VAR_019297 p.Gly719Ser Unclassified - - EGFR P00533 VAR_019298 p.Leu858Arg Unclassified - - EGFR P00533 VAR_019299 p.Arg962Gly Polymorphism rs17337451 - EGFR P00533 VAR_019300 p.His988Pro Polymorphism rs17290699 - EGFR P00533 VAR_026084 p.Glu709Ala Unclassified - - EGFR P00533 VAR_026085 p.Glu709Lys Unclassified - - EGFR P00533 VAR_026086 p.Gly719Ala Unclassified - - EGFR P00533 VAR_026087 p.Gly719Cys Polymorphism rs28929495 - EGFR P00533 VAR_026088 p.Gly719Asp Unclassified - - EGFR P00533 VAR_026089 p.Gly724Ser Unclassified - - EGFR P00533 VAR_026090 p.Glu734Lys Unclassified - - EGFR P00533 VAR_026093 p.Leu747Phe Unclassified - - EGFR P00533 VAR_026095 p.Arg748Pro Unclassified - - EGFR P00533 VAR_026097 p.Gln787Arg Unclassified - - EGFR P00533 VAR_026098 p.Thr790Met Unclassified - - EGFR P00533 VAR_026099 p.Leu833Val Unclassified - - EGFR P00533 VAR_026100 p.Val834Leu Unclassified - - EGFR P00533 VAR_026101 p.Leu858Met Unclassified - - EGFR P00533 VAR_026102 p.Leu861Gln Unclassified - - EGFR P00533 VAR_026103 p.Gly873Glu Unclassified - - EGFR P00533 VAR_042095 p.Leu1034Arg Polymorphism rs34352568 - EGFR P00533 VAR_042096 p.Ala1210Val Polymorphism rs35918369 - EGLN1 Q9GZT9 VAR_027371 p.Pro317Arg Disease - Familial erythrocytosis type 3 (ECYT3) [MIM:609820] EGLN1 Q9GZT9 VAR_045902 p.Arg371His Disease - Familial erythrocytosis type 3 (ECYT3) [MIM:609820] EGLN3 Q9H6Z9 VAR_050449 p.Val136Leu Polymorphism rs17102002 - EGLN3 Q9H6Z9 VAR_050450 p.Ser234Thr Polymorphism rs17101995 - EGR1 P18146 VAR_029330 p.Asn144Lys Polymorphism rs28365166 - EGR1 P18146 VAR_029331 p.Ser145Arg Polymorphism rs28365164 - EGR1 P18146 VAR_029332 p.Glu219Asp Polymorphism rs28365165 - EGR1 P18146 VAR_052712 p.Thr28Ile Polymorphism rs13181973 - EGR2 P11161 VAR_007735 p.Ile268Asn Disease - Congenital hypomyelination neuropathy (CHN) [MIM:605253] EGR2 P11161 VAR_007736 p.Asp355Val Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_007738 p.Arg409Trp Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_009874 p.Arg359Trp Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_009874 p.Arg359Trp Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] EGR2 P11161 VAR_009875 p.Arg381His Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_029958 p.Arg381Cys Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] EGR2 P11161 VAR_029959 p.Asp383Tyr Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] EHBP1L1 Q8N3D4 VAR_031993 p.Arg307Gln Polymorphism rs3741380 - EHBP1L1 Q8N3D4 VAR_031994 p.Val538Gly Polymorphism rs6591182 - EHBP1L1 Q8N3D4 VAR_031995 p.Asp569Val Polymorphism rs1194099 - EHBP1L1 Q8N3D4 VAR_031996 p.Thr599Ile Polymorphism rs7931052 - EHBP1L1 Q8N3D4 VAR_031997 p.Thr648Ile Polymorphism rs7931269 - EHBP1L1 Q8N3D4 VAR_061645 p.Val133Leu Polymorphism rs1194100 - EHBP1 Q8NDI1 VAR_031992 p.Lys755Gln Polymorphism rs17432615 - EHBP1 Q8NDI1 VAR_035913 p.Arg395Thr Unclassified - A breast cancer sample EHD2 Q9NZN4 VAR_033917 p.Gly57Ser Polymorphism rs34140460 - EHD4 Q9H223 VAR_053070 p.Val154Ile Polymorphism rs11549015 - EHF Q9NZC4 VAR_048941 p.Ala96Val Polymorphism rs9804460 - EHHADH Q08426 VAR_047132 p.Thr75Ile Polymorphism rs1062553 - EHHADH Q08426 VAR_047133 p.Ala274Thr Polymorphism rs2302819 - EHHADH Q08426 VAR_047134 p.Thr606Pro Polymorphism rs1042438 - EHHADH Q08426 VAR_047135 p.Gln685Lys Polymorphism rs11919970 - EHHADH Q08426 VAR_047136 p.Leu715Ser Polymorphism rs11927618 - EHHADH Q08426 VAR_054329 p.Val40Gly Polymorphism rs1062551 - EHHADH Q08426 VAR_054330 p.Ile41Arg Polymorphism rs1062552 - EHHADH Q08426 VAR_054331 p.Ala325Gly Polymorphism rs1062555 - EHHADH Q08426 VAR_054332 p.Lys598Thr Polymorphism rs1042437 - EHMT1 Q9H9B1 VAR_027642 p.Ala388Thr Polymorphism rs11137198 - EHMT1 Q9H9B1 VAR_036345 p.Ala43Val Unclassified - A breast cancer sample EHMT1 Q9H9B1 VAR_036346 p.Tyr1173Phe Unclassified - A breast cancer sample EHMT2 Q96KQ7 VAR_027973 p.Thr55Asn Polymorphism rs7887 - EHMT2 Q96KQ7 VAR_027974 p.Tyr1165Phe Polymorphism rs13919 - EI24 O14681 VAR_065459 p.Asp30Gly Unclassified - Some patients with early onset breast cancer EI24 O14681 VAR_065460 p.Pro195Trp Unclassified - Some patients with early onset breast cancer EI24 O14681 VAR_065461 p.Ile196Asp Unclassified - Some patients with early onset breast cancer EI24 O14681 VAR_065462 p.His197Tyr Unclassified - Some patients with early onset breast cancer EI24 O14681 VAR_065463 p.Val199His Unclassified - Some patients with early onset breast cancer EI24 O14681 VAR_065464 p.Thr319Ala Unclassified - Some patients with early onset breast cancer EID2 Q8N6I1 VAR_038351 p.Ala6Thr Polymorphism rs7252027 - EID2 Q8N6I1 VAR_050964 p.Glu60Ala Polymorphism rs3746086 - EIF1AD Q8N9N8 VAR_037851 p.Asp23Asn Polymorphism rs17849919 - EIF1AD Q8N9N8 VAR_037852 p.Ser159Asn Polymorphism rs2276017 - EIF1 P41567 VAR_052505 p.Leu59Pro Polymorphism rs3390 - EIF1 P41567 VAR_052506 p.Arg90Gly Polymorphism rs3387 - EIF2AK1 Q9BQI3 VAR_015732 p.Lys558Arg Polymorphism rs2640 - EIF2AK1 Q9BQI3 VAR_040466 p.Arg117Thr Polymorphism rs34889754 - EIF2AK1 Q9BQI3 VAR_040467 p.Lys132Thr Polymorphism rs34851195 - EIF2AK1 Q9BQI3 VAR_040468 p.Arg134Lys Polymorphism rs55744865 - EIF2AK1 Q9BQI3 VAR_040469 p.Pro139Ser Polymorphism rs55963745 - EIF2AK1 Q9BQI3 VAR_040470 p.Arg145His Polymorphism rs55971369 - EIF2AK1 Q9BQI3 VAR_040471 p.Gly202Ser Unclassified - A lung adenocarcinoma sample EIF2AK1 Q9BQI3 VAR_040472 p.Phe292Leu Polymorphism rs55982710 - EIF2AK1 Q9BQI3 VAR_040473 p.Leu319His Polymorphism rs34909691 - EIF2AK2 P19525 VAR_040474 p.Val428Glu Polymorphism rs56219559 - EIF2AK2 P19525 VAR_040475 p.Leu439Val Unclassified - A lung adenocarcinoma sample EIF2AK2 P19525 VAR_040476 p.Ile506Val Polymorphism rs34821155 - EIF2AK3 Q9NZJ5 VAR_011408 p.Arg588Gln Disease - Wolcott-Rallison syndrome (WRS) [MIM:226980] EIF2AK3 Q9NZJ5 VAR_011409 p.Ser136Cys Polymorphism rs867529 - EIF2AK3 Q9NZJ5 VAR_011410 p.Gln166Arg Polymorphism rs13045 - EIF2AK3 Q9NZJ5 VAR_011411 p.Ala704Ser Polymorphism rs1805165 - EIF2AK3 Q9NZJ5 VAR_040477 p.Asp566Val Polymorphism - - EIF2AK3 Q9NZJ5 VAR_040478 p.Pro716Leu Polymorphism - - EIF2AK4 Q9P2K8 VAR_040479 p.His137Arg Polymorphism - - EIF2AK4 Q9P2K8 VAR_040480 p.Arg166Trp Polymorphism - - EIF2AK4 Q9P2K8 VAR_040481 p.Ile441Leu Polymorphism rs2291627 - EIF2AK4 Q9P2K8 VAR_040482 p.Asp872Val Polymorphism - - EIF2AK4 Q9P2K8 VAR_040483 p.His939Tyr Unclassified - A lung neuroendocrine carcinoma sample EIF2AK4 Q9P2K8 VAR_040484 p.Thr1060Arg Polymorphism - - EIF2AK4 Q9P2K8 VAR_040485 p.Gly1306Cys Polymorphism rs35602605 - EIF2AK4 Q9P2K8 VAR_040486 p.Lys1336Arg Polymorphism rs35480871 - EIF2AK4 Q9P2K8 VAR_040487 p.Gln1406His Polymorphism - - EIF2A Q9BY44 VAR_032066 p.Thr97Ser Polymorphism rs1132979 - EIF2A Q9BY44 VAR_032067 p.Glu582Lys Polymorphism rs17850813 - EIF2B1 Q14232 VAR_015404 p.Asn208Tyr Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B2 P49770 VAR_012289 p.Glu213Gly Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B2 P49770 VAR_012290 p.Val316Asp Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B2 P49770 VAR_012321 p.Lys273Arg Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B2 P49770 VAR_012322 p.Gly329Val Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B2 P49770 VAR_016842 p.Ser171Phe Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B3 Q9NR50 VAR_015409 p.Ala87Val Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B3 Q9NR50 VAR_015410 p.Arg225Gln Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B3 Q9NR50 VAR_048920 p.Asp288Glu Polymorphism rs3738247 - EIF2B4 Q9UI10 VAR_015405 p.Ala228Val Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B4 Q9UI10 VAR_015406 p.Arg306Gly Polymorphism - - EIF2B4 Q9UI10 VAR_015407 p.Arg357Gln Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B4 Q9UI10 VAR_015408 p.Arg374Cys Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B4 Q9UI10 VAR_016843 p.Cys465Arg Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B4 Q9UI10 VAR_016844 p.Tyr489His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B4 Q9UI10 VAR_048918 p.Ala93Val Polymorphism rs34155621 - EIF2B5 Q13144 VAR_012291 p.Thr91Ala Disease rs28939717 Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012292 p.Arg113His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012293 p.Gly386Val Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012294 p.Trp628Arg Disease rs28937596 Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012323 p.Val73Gly Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012324 p.Leu106Phe Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012325 p.Arg299His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012326 p.Arg315Gly Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012327 p.Arg315His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012328 p.Arg339Pro Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012329 p.Arg339Gln Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012330 p.Arg339Trp Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012331 p.Val430Ala Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_012332 p.Ile587Val Polymorphism rs843358 - EIF2B5 Q13144 VAR_012333 p.Glu650Lys Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_016845 p.Arg195Cys Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_016846 p.Arg195His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5 Q13144 VAR_048919 p.Asn200Thr Polymorphism rs2971409 - EIF2D P41214 VAR_052507 p.Thr210Ile Polymorphism rs35252702 - EIF2S2 P20042 VAR_048909 p.Glu177Asp Polymorphism rs17856024 - EIF2S3 P41091 VAR_002352 p.Lys125Arg Polymorphism rs16997659 - EIF3A Q14152 VAR_024438 p.Glu386Lys Polymorphism rs967185 - EIF3A Q14152 VAR_048921 p.Lys694Asn Polymorphism rs431898 - EIF3A Q14152 VAR_048922 p.Asp993Glu Polymorphism rs532138 - EIF3B P55884 VAR_047972 p.Ser64Pro Polymorphism rs9690787 - EIF3B P55884 VAR_047973 p.Asp793Glu Polymorphism rs1063257 - EIF3E P60228 VAR_046480 p.Ala185Val Polymorphism rs17856554 - EIF3F O00303 VAR_014452 p.Trp172Leu Polymorphism rs1044058 - EIF3F O00303 VAR_029267 p.Pro39Leu Polymorphism rs1043738 - EIF3J O75822 VAR_034007 p.Ala141Thr Polymorphism rs2303578 - EIF3L Q9Y262 VAR_053937 p.Asn239Ser Polymorphism rs11551387 - EIF3M Q7L2H7 VAR_036752 p.Gly37Arg Polymorphism rs11557143 - EIF3M Q7L2H7 VAR_036753 p.Glu80Gly Unclassified - A breast cancer sample EIF3M Q7L2H7 VAR_036754 p.Gln346Arg Polymorphism rs1802363 - EIF4A2 Q14240 VAR_035838 p.Val181Leu Unclassified - A breast cancer sample EIF4A2 Q14240 VAR_052158 p.Gln93His Polymorphism rs11538616 - EIF4B P23588 VAR_064710 p.Pro203Arg Unclassified - - EIF4E1B A6NMX2 VAR_044209 p.Asp227Tyr Polymorphism rs13163938 - EIF4G1 Q04637 VAR_036117 p.Pro696Leu Unclassified - A colorectal cancer sample EIF4G1 Q04637 VAR_055704 p.Tyr311Cys Polymorphism rs16858632 - EIF4G1 Q04637 VAR_055705 p.Leu1233Pro Polymorphism rs2230570 - EIF4G1 Q04637 VAR_061147 p.Thr161Ala Polymorphism rs13319149 - EIF4G1 Q04637 VAR_061148 p.Pro1229Ala Polymorphism rs35629949 - EIF4G1 Q04637 VAR_063040 p.Met432Val Polymorphism rs2178403 - EIF4G2 P78344 VAR_048923 p.Leu236Met Polymorphism rs34885591 - EIF4G3 O43432 VAR_034009 p.Pro496Ala Polymorphism rs35176330 - EIF4G3 O43432 VAR_048924 p.Gln378Arg Polymorphism rs35731992 - EIF4G3 O43432 VAR_048925 p.Asp1185Glu Polymorphism rs2230572 - EIF5A2 Q9GZV4 VAR_027943 p.Glu42Asp Polymorphism - - EIF5B O60841 VAR_055954 p.Ser337Gly Polymorphism rs10642 - EIF5B O60841 VAR_055955 p.Arg360Gly Polymorphism rs3205296 - EIF5B O60841 VAR_060587 p.Lys522Thr Polymorphism rs7558074 - EIF5 P55010 VAR_036467 p.Lys418Met Unclassified - A breast cancer sample ELAC1 Q9H777 VAR_017424 p.Met355Val Polymorphism rs34524743 - ELAC2 Q9BQ52 VAR_017425 p.Arg211Gln Disease - Prostate cancer, hereditary, type 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017426 p.Ser217Leu Disease rs4792311 Prostate cancer, hereditary, type 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017427 p.Gly487Arg Disease - Prostate cancer, hereditary, type 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017428 p.Ala541Thr Disease rs34152967 Prostate cancer, hereditary, type 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017429 p.Glu622Val Disease - Prostate cancer, hereditary, type 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017430 p.Ser627Leu Polymorphism - - ELAC2 Q9BQ52 VAR_017431 p.Arg781His Disease - Prostate cancer, hereditary, type 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_017432 p.Gly806Arg Disease - Prostate cancer, hereditary, type 2 (HPC2) [MIM:614731] ELAC2 Q9BQ52 VAR_038210 p.Ser52Phe Polymorphism rs9895963 - ELAC2 Q9BQ52 VAR_038211 p.Asp436Asn Polymorphism rs3760317 - ELANE P08246 VAR_009538 p.Gly32Val Disease - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_009539 p.Val177Phe Disease - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_009540 p.Arg191Gln Disease - Cyclic haematopoiesis (CH) [MIM:162800] ELANE P08246 VAR_019237 p.Val219Ile Polymorphism rs17216656 - ELANE P08246 VAR_019238 p.Pro257Leu Polymorphism rs17216663 - ELANE P08246 VAR_019239 p.Pro262Leu Polymorphism rs17216670 - ELANE P08246 VAR_038609 p.Cys55Tyr Unclassified - - ELANE P08246 VAR_038610 p.Ala57Thr Unclassified - - ELANE P08246 VAR_038611 p.Ile60Thr Unclassified - - ELANE P08246 VAR_038612 p.Cys71Arg Polymorphism rs28931611 - ELANE P08246 VAR_038613 p.Cys71Ser Unclassified - - ELANE P08246 VAR_038614 p.Gly85Glu Unclassified - - ELANE P08246 VAR_038615 p.Val98Leu Polymorphism - - ELANE P08246 VAR_038616 p.Val101Leu Polymorphism - - ELANE P08246 VAR_038617 p.Val101Met Polymorphism rs28929494 - ELANE P08246 VAR_038619 p.Ser126Leu Unclassified - - ELANE P08246 VAR_038620 p.Pro139Leu Polymorphism rs28929493 - ELANE P08246 VAR_038621 p.Cys151Ser Unclassified - - ELANE P08246 VAR_038623 p.Pro205Arg Unclassified - - ELANE P08246 VAR_038624 p.Gly210Val Unclassified - - ELANE P08246 VAR_038625 p.Gly214Arg Unclassified - - ELANE P08246 VAR_064512 p.Ala25Val Disease - Neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700] ELANE P08246 VAR_064513 p.Ala166Thr Disease - Neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700] ELAVL4 P26378 VAR_052204 p.Pro270Ser Polymorphism rs2494876 - ELAVL4 P26378 VAR_058091 p.Asp166Gly Polymorphism rs17853533 - ELAVL4 P26378 VAR_058092 p.Ala356Thr Polymorphism rs17853531 - ELF1 P32519 VAR_048942 p.Asn58Ser Polymorphism rs7799 - ELF1 P32519 VAR_048943 p.Thr343Ser Polymorphism rs1056820 - ELF1 P32519 VAR_048944 p.Thr403Ile Polymorphism rs7323148 - ELF3 P78545 VAR_048945 p.Gln317Lys Polymorphism rs1135542 - ELK1 P19419 VAR_017108 p.Gly144Ser Polymorphism rs1997639 - ELK1 P19419 VAR_017109 p.Ser183Asn Polymorphism rs1059579 - ELK3 P41970 VAR_048946 p.Pro169Leu Polymorphism rs35332676 - ELL2 O00472 VAR_058406 p.Ala298Thr Polymorphism rs3815768 - ELL3 Q9HB65 VAR_018992 p.Gln11Glu Polymorphism rs2277531 - ELL3 Q9HB65 VAR_053074 p.Trp140Arg Polymorphism rs35454865 - ELL P55199 VAR_053072 p.Ser297Asn Polymorphism rs2303694 - ELL P55199 VAR_053073 p.Arg387Trp Polymorphism rs35245196 - ELMO2 Q96JJ3 VAR_048928 p.Glu695Asp Polymorphism rs34630674 - ELMO3 Q96BJ8 VAR_055402 p.Lys13Gln Polymorphism rs12923138 - ELMO3 Q96BJ8 VAR_055403 p.Asn95Asp Polymorphism rs8058861 - ELMO3 Q96BJ8 VAR_055404 p.Arg316Cys Polymorphism rs33948247 - ELMOD3 Q96FG2 VAR_030362 p.Arg66Cys Polymorphism rs7564372 - ELMOD3 Q96FG2 VAR_030363 p.Thr70Ile Polymorphism rs955592 - ELMSAN1 Q6PJG2 VAR_050182 p.Ala86Val Polymorphism rs35302179 - ELMSAN1 Q6PJG2 VAR_050183 p.Pro554Leu Polymorphism rs17782124 - ELMSAN1 Q6PJG2 VAR_061361 p.Asp895Asn Polymorphism rs35905570 - ELN P15502 VAR_020882 p.Gly422Ser Polymorphism rs2071307 - ELN P15502 VAR_056869 p.Gly610Arg Polymorphism rs17855988 - ELOVL2 Q9NXB9 VAR_039039 p.Thr216Ala Polymorphism rs17855038 - ELOVL2 Q9NXB9 VAR_039040 p.Val225Met Polymorphism rs6919726 - ELOVL4 Q9GZR5 VAR_012492 p.Met299Val Polymorphism rs3812153 - ELOVL4 Q9GZR5 VAR_017043 p.Ile267Thr Polymorphism - - ELP2 Q6IA86 VAR_024072 p.Thr128Pro Polymorphism rs1785934 - ELP2 Q6IA86 VAR_024073 p.Val305Met Polymorphism rs1785928 - ELP2 Q6IA86 VAR_024074 p.His359Arg Polymorphism rs16967474 - ELP2 Q6IA86 VAR_024075 p.Glu795Gly Polymorphism rs12607773 - ELP2 Q6IA86 VAR_024076 p.His806Pro Polymorphism rs1044128 - ELP2 Q6IA86 VAR_033804 p.Ile541Thr Polymorphism rs28463092 - ELP2 Q6IA86 VAR_033805 p.Thr543Pro Polymorphism rs17563617 - ELP2 Q6IA86 VAR_033806 p.Thr815Pro Polymorphism rs1044134 - ELP4 Q96EB1 VAR_053881 p.Ile300Leu Polymorphism rs34804357 - ELP5 Q8TE02 VAR_031205 p.Asp303Tyr Polymorphism rs17849664 - ELP5 Q8TE02 VAR_053882 p.Glu14Lys Polymorphism rs2521988 - ELSPBP1 Q96BH3 VAR_036760 p.Cys100Trp Polymorphism rs3745751 - ELSPBP1 Q96BH3 VAR_036761 p.Asp170Asn Polymorphism rs35362679 - ELSPBP1 Q96BH3 VAR_036762 p.Glu199Lys Polymorphism rs2303690 - ELSPBP1 Q96BH3 VAR_036763 p.Asp215Asn Polymorphism rs6509358 - ELTD1 Q9HBW9 VAR_047072 p.Val300Leu Polymorphism rs12754818 - ELTD1 Q9HBW9 VAR_047073 p.His599Gln Polymorphism rs1968956 - ELTD1 Q9HBW9 VAR_047074 p.Ala620Gly Polymorphism rs2275902 - EMC1 Q8N766 VAR_027359 p.Leu295Ser Polymorphism rs3850531 - EMC1 Q8N766 VAR_027360 p.Ser345Thr Polymorphism rs709683 - EMC1 Q8N766 VAR_027361 p.Ser347Asn Polymorphism rs709682 - EMC4 Q5J8M3 VAR_053775 p.Pro98Thr Polymorphism rs11544437 - EMC9 Q9Y3B6 VAR_052532 p.Ala97Val Polymorphism rs11574512 - EMD P50402 VAR_005198 p.Ser54Phe Disease - Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300] EMD P50402 VAR_005199 p.Pro183His Disease - Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300] EMD P50402 VAR_005200 p.Pro183Thr Disease - Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300] EMD P50402 VAR_016016 p.Gln133His Disease - Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300] EMD P50402 VAR_038433 p.Asp149His Polymorphism rs2070818 - EME1 Q96AY2 VAR_025337 p.Ile49Val Polymorphism rs9896405 - EME1 Q96AY2 VAR_025338 p.Glu69Asp Polymorphism rs3760413 - EME1 Q96AY2 VAR_025339 p.Ile350Thr Polymorphism rs12450550 - EME1 Q96AY2 VAR_055708 p.Lys5Asn Polymorphism rs35248609 - EME1 Q96AY2 VAR_055709 p.Phe63Leu Polymorphism rs17714854 - EME1 Q96AY2 VAR_055710 p.Val347Ile Polymorphism rs7222520 - EMG1 Q92979 VAR_050237 p.Ala34Gly Polymorphism rs11064480 - EMG1 Q92979 VAR_062480 p.Asp86Gly Disease - Bowen-Conradi syndrome (BWCNS) [MIM:211180] EMID1 Q96A84 VAR_019803 p.Ala107Gly Polymorphism rs743920 - EMILIN1 Q9Y6C2 VAR_046095 p.Gln149Arg Polymorphism rs2736976 - EMILIN1 Q9Y6C2 VAR_046096 p.Gln536Arg Polymorphism rs36069611 - EMILIN1 Q9Y6C2 VAR_046097 p.Glu903Lys Polymorphism rs36045790 - EMILIN2 Q9BXX0 VAR_057528 p.Ala215Thr Polymorphism rs16943977 - EMILIN2 Q9BXX0 VAR_057529 p.Met259Val Polymorphism rs35267664 - EMILIN2 Q9BXX0 VAR_062003 p.Pro903Ser Polymorphism rs56288451 - EMILIN3 Q9NT22 VAR_053075 p.Ser532Asn Polymorphism rs2235592 - EML1 O00423 VAR_031720 p.Ala377Val Polymorphism rs34198557 - EML1 O00423 VAR_031721 p.His552Asn Polymorphism rs17853154 - EML1 O00423 VAR_031722 p.Ser556Pro Polymorphism rs2250718 - EML2 O95834 VAR_022026 p.Arg357His Polymorphism rs3816045 - EML2 O95834 VAR_024697 p.Glu235Asp Polymorphism rs1545040 - EML2 O95834 VAR_031723 p.Met33Val Polymorphism rs12151009 - EML2 O95834 VAR_031724 p.Leu187Phe Polymorphism rs7252175 - EML2 O95834 VAR_035879 p.Val484Leu Unclassified - A colorectal cancer sample EML3 Q32P44 VAR_031725 p.Gln620Lys Polymorphism rs34098002 - EML4 Q9HC35 VAR_031726 p.Lys283Glu Polymorphism rs6736913 - EML4 Q9HC35 VAR_031727 p.Ile382Val Polymorphism rs10202624 - EML4 Q9HC35 VAR_031728 p.Lys398Arg Polymorphism rs28651764 - EML4 Q9HC35 VAR_031729 p.Ser978Leu Polymorphism rs28364731 - EML5 Q05BV3 VAR_031730 p.Ile269Val Polymorphism rs17188228 - EMP1 P54849 VAR_050608 p.Ser57Asn Polymorphism rs34412222 - EMP3 P54852 VAR_050609 p.Ile125Val Polymorphism rs4893 - EMR1 Q14246 VAR_027616 p.Ala57Thr Polymorphism rs330877 - EMR1 Q14246 VAR_027617 p.Ser140Arg Polymorphism rs330880 - EMR1 Q14246 VAR_027618 p.Asp174Asn Polymorphism rs897738 - EMR1 Q14246 VAR_027619 p.Asn254Ser Polymorphism rs443658 - EMR1 Q14246 VAR_027620 p.Ala298Val Polymorphism rs370094 - EMR1 Q14246 VAR_027621 p.Thr389Met Polymorphism rs466876 - EMR1 Q14246 VAR_027622 p.Ile424Val Polymorphism rs457857 - EMR1 Q14246 VAR_027623 p.Lys496Gln Polymorphism rs373533 - EMR1 Q14246 VAR_027624 p.Ile539Val Polymorphism rs461645 - EMR1 Q14246 VAR_027625 p.Val589Ile Polymorphism rs7256147 - EMR1 Q14246 VAR_027626 p.Phe691Cys Polymorphism rs2229769 - EMR1 Q14246 VAR_027627 p.Val724Leu Polymorphism rs10406580 - EMR1 Q14246 VAR_046976 p.Arg2Leu Polymorphism rs34176643 - EMR1 Q14246 VAR_046977 p.Met663Thr Polymorphism rs2228539 - EMR2 Q9UHX3 VAR_026719 p.Thr605Ile Polymorphism rs4410209 - EMR2 Q9UHX3 VAR_026720 p.Leu614Phe Polymorphism rs2524383 - EMR2 Q9UHX3 VAR_026721 p.Ser665Phe Polymorphism rs3752187 - EMR2 Q9UHX3 VAR_061229 p.Ala314Val Polymorphism rs35612307 - EMR2 Q9UHX3 VAR_061230 p.Glu720Asp Polymorphism rs57865820 - EMR3 Q9BY15 VAR_024472 p.Glu127Gln Polymorphism rs4606855 - EMR3 Q9BY15 VAR_055926 p.Ala236Val Polymorphism rs34226397 - EMR3 Q9BY15 VAR_060442 p.Arg385Gln Polymorphism rs8102646 - EN2 P19622 VAR_021985 p.Leu121Phe Polymorphism rs3735653 - ENAM Q9NRM1 VAR_020105 p.Pro724Leu Polymorphism rs3796703 - ENAM Q9NRM1 VAR_024311 p.Phe576Leu Polymorphism rs2609428 - ENAM Q9NRM1 VAR_024312 p.Ile648Thr Polymorphism rs7671281 - ENAM Q9NRM1 VAR_024313 p.Arg763Gln Polymorphism rs3796704 - ENAM Q9NRM1 VAR_047076 p.Asp767Gly Polymorphism rs3796705 - ENC1 O14682 VAR_050040 p.Ile256Ser Polymorphism rs16872126 - ENDOD1 O94919 VAR_022044 p.Val350Met Polymorphism rs3740862 - ENDOD1 O94919 VAR_022045 p.Gly446Val Polymorphism rs3740861 - ENDOG Q14249 VAR_031691 p.Ser12Leu Polymorphism rs2293969 - ENDOU P21128 VAR_014793 p.Glu72Gln Polymorphism rs6504 - ENDOU P21128 VAR_014794 p.Glu72Val Polymorphism rs6505 - ENDOV Q8N8Q3 VAR_046285 p.Val29Ile Polymorphism rs35549084 - ENDOV Q8N8Q3 VAR_046286 p.Arg112Gln Polymorphism rs34933300 - ENDOV Q8N8Q3 VAR_046287 p.Lys114Arg Polymorphism - - ENDOV Q8N8Q3 VAR_046288 p.His141Tyr Polymorphism - - ENDOV Q8N8Q3 VAR_046289 p.Asp201Asn Polymorphism rs35929621 - ENGASE Q8NFI3 VAR_060188 p.Ser596Asn Polymorphism rs4789879 - ENGASE Q8NFI3 VAR_060189 p.Glu731Lys Polymorphism rs11871357 - ENG P17813 VAR_005192 p.Thr5Met Polymorphism rs35400405 - ENG P17813 VAR_005193 p.Gly52Val Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_005194 p.Cys53Arg Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_005195 p.Trp149Cys Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_005197 p.Leu306Pro Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_009120 p.Ala160Asp Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_009121 p.Leu221Pro Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_014764 p.Asp366His Polymorphism rs1800956 - ENG P17813 VAR_026774 p.Leu8Pro Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_026775 p.Val49Phe Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_026776 p.Leu107Arg Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_026780 p.Ile263Thr Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_026781 p.Cys412Ser Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_026782 p.Val504Met Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_026783 p.Ser615Leu Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENG P17813 VAR_037140 p.Gly413Val Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] ENO1 P06733 VAR_025172 p.Asn177Lys Polymorphism rs11544513 - ENO1 P06733 VAR_048936 p.Pro325Gln Polymorphism rs11544514 - ENO2 P09104 VAR_002354 p.Pro264Ala Polymorphism - - ENO2 P09104 VAR_002355 p.Thr395Ala Polymorphism - - ENO3 P13929 VAR_020618 p.Asn71Ser Polymorphism rs238238 - ENO3 P13929 VAR_020619 p.Val85Ala Polymorphism rs238239 - ENO3 P13929 VAR_020620 p.Gly156Asp Disease - Glycogen storage disease type 13 (GSD13) [MIM:612932] ENO3 P13929 VAR_020621 p.Gly374Glu Disease - Glycogen storage disease type 13 (GSD13) [MIM:612932] ENOSF1 Q7L5Y1 VAR_042933 p.Asp31Glu Polymorphism rs34724061 - ENOSF1 Q7L5Y1 VAR_042934 p.Met145Thr Polymorphism rs2612086 - ENOSF1 Q7L5Y1 VAR_042935 p.Tyr428Ser Polymorphism rs2847620 - ENOX1 Q8TC92 VAR_052205 p.Glu16Asp Polymorphism rs7338624 - ENPEP Q07075 VAR_030359 p.Gln213Arg Polymorphism rs10004516 - ENPEP Q07075 VAR_030360 p.Val218Ala Polymorphism rs1126483 - ENPEP Q07075 VAR_036047 p.Arg887Thr Unclassified - A breast cancer sample ENPEP Q07075 VAR_057056 p.Arg437His Polymorphism rs34949711 - ENPEP Q07075 VAR_057057 p.Ser861Arg Polymorphism rs35812243 - ENPP1 P22413 VAR_008873 p.Lys173Gln Polymorphism rs1044498 - ENPP1 P22413 VAR_014141 p.Leu91Pro Disease - Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] ENPP1 P22413 VAR_014142 p.Tyr268His Polymorphism rs1805139 - ENPP1 P22413 VAR_014143 p.Ser287Phe Disease - Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] ENPP1 P22413 VAR_014144 p.Thr779Pro Polymorphism rs1805138 - ENPP1 P22413 VAR_018514 p.Leu579Phe Disease - Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_018515 p.Arg774Cys Unclassified rs28933977 - ENPP1 P22413 VAR_037432 p.Asn179Ser Polymorphism rs2273411 - ENPP1 P22413 VAR_037433 p.Gly342Val Disease - Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000] ENPP1 P22413 VAR_037434 p.Tyr371Phe Unclassified - - ENPP1 P22413 VAR_037435 p.Arg886Thr Polymorphism rs8192683 - ENPP1 P22413 VAR_063719 p.Gly266Val Disease - Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312] ENPP1 P22413 VAR_063720 p.Tyr901Ser Disease rs121908249 Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312] ENPP2 Q13822 VAR_057472 p.Asn577Ser Polymorphism rs2289886 - ENPP2 Q13822 VAR_057473 p.Ser726Leu Polymorphism rs16892767 - ENPP2 Q13822 VAR_060469 p.Ser493Pro Polymorphism rs10283100 - ENPP3 O14638 VAR_018516 p.Val620Met Polymorphism rs9321309 - ENPP3 O14638 VAR_031253 p.Ser786Asn Polymorphism rs17601580 - ENPP3 O14638 VAR_046538 p.Asn744His Polymorphism rs36094194 - ENPP4 Q9Y6X5 VAR_039884 p.His144Gln Polymorphism rs7451713 - ENPP4 Q9Y6X5 VAR_039885 p.Ile255Val Polymorphism rs9381429 - ENPP4 Q9Y6X5 VAR_039886 p.Ser439Ala Polymorphism rs16874289 - ENPP5 Q9UJA9 VAR_020248 p.Leu6Ile Polymorphism rs3806995 - ENPP5 Q9UJA9 VAR_024693 p.Ile171Val Polymorphism rs6926570 - ENPP5 Q9UJA9 VAR_033918 p.Arg39Pro Polymorphism rs34109856 - ENPP5 Q9UJA9 VAR_052940 p.Ile69Val Polymorphism rs34432940 - ENPP5 Q9UJA9 VAR_052941 p.Tyr283Cys Polymorphism rs16874326 - ENPP6 Q6UWR7 VAR_026644 p.Ser419Gly Polymorphism rs4479748 - ENPP6 Q6UWR7 VAR_052942 p.Asp357Asn Polymorphism rs4488969 - ENPP7 Q6UWV6 VAR_021506 p.Leu4Pro Polymorphism rs8074547 - ENTHD1 Q8IYW4 VAR_037449 p.Ile109Thr Polymorphism rs17319801 - ENTPD1 P49961 VAR_022099 p.Val293Ile Polymorphism rs3793744 - ENTPD2 Q9Y5L3 VAR_050307 p.Ala103Val Polymorphism rs34618694 - ENTPD3 O75355 VAR_027541 p.Glu440Asp Polymorphism rs4470483 - ENTPD3 O75355 VAR_027542 p.Ala496Val Polymorphism rs1047855 - ENTPD3 O75355 VAR_027543 p.Leu505Phe Polymorphism rs3733167 - ENTPD3 O75355 VAR_061384 p.Arg264Gln Polymorphism rs34266806 - ENTPD4 Q9Y227 VAR_020444 p.Lys354Glu Polymorphism rs2272641 - ENTPD4 Q9Y227 VAR_064711 p.Ile341Val Unclassified - - ENTPD5 O75356 VAR_050308 p.Lys314Arg Polymorphism rs17094434 - ENTPD6 O75354 VAR_017863 p.Leu138Val Polymorphism rs1044567 - ENTPD6 O75354 VAR_027812 p.Ser14Asn Polymorphism rs2076559 - ENTPD6 O75354 VAR_027813 p.Lys202Glu Polymorphism rs6050446 - ENTPD6 O75354 VAR_027814 p.Ser323Asn Polymorphism rs6138541 - ENTPD6 O75354 VAR_050309 p.Arg157Gln Polymorphism rs34007133 - ENTPD7 Q9NQZ7 VAR_030287 p.Val276Ala Polymorphism rs11190245 - ENTPD8 Q5MY95 VAR_035339 p.Leu62Pro Polymorphism rs6606582 - ENTPD8 Q5MY95 VAR_061385 p.Glu428Lys Polymorphism rs61491031 - EOMES O95936 VAR_036069 p.Glu667Gln Unclassified - A breast cancer sample EOMES O95936 VAR_059827 p.Ala120Gly Polymorphism rs12715125 - EP300 Q09472 VAR_014428 p.Leu827Pro Unclassified - A breast cancer sample EP300 Q09472 VAR_014429 p.Glu1013Gly Unclassified - A breast cancer sample EP300 Q09472 VAR_014430 p.Ser1650Tyr Unclassified - A pancreatic cancer sample EP300 Q09472 VAR_014431 p.Pro2221Gln Unclassified rs28937578 A colorectal cancer sample EP300 Q09472 VAR_020425 p.Ile997Val Polymorphism rs20551 - EP300 Q09472 VAR_038376 p.Thr2174Ser Polymorphism rs5758252 - EP300 Q09472 VAR_038377 p.Gln2223Pro Polymorphism rs1046088 - EP300 Q09472 VAR_055554 p.Met289Val Polymorphism rs2230111 - EP400 Q96L91 VAR_046957 p.Thr1308Ile Polymorphism rs13377636 - EPAS1 Q99814 VAR_042443 p.Gly537Trp Disease - Familial erythrocytosis type 4 (ECYT4) [MIM:611783] EPAS1 Q99814 VAR_061261 p.Thr766Pro Polymorphism rs59901247 - EPAS1 Q99814 VAR_061262 p.Pro785Thr Polymorphism rs61518065 - EPB41L2 O43491 VAR_020145 p.Gln17His Polymorphism rs2297852 - EPB41L3 Q9Y2J2 VAR_048353 p.Ala555Thr Polymorphism rs9966357 - EPB41L3 Q9Y2J2 VAR_048354 p.Tyr575Cys Polymorphism rs8082898 - EPB41L3 Q9Y2J2 VAR_048355 p.Glu859Gln Polymorphism rs8096452 - EPB41L4A Q9HCS5 VAR_055537 p.Val132Ile Polymorphism rs34008454 - EPB41L4B Q9H329 VAR_048356 p.Asn816Thr Polymorphism rs3750450 - EPB41L5 Q9HCM4 VAR_042699 p.Ala462Thr Polymorphism rs1034489 - EPB41L5 Q9HCM4 VAR_048357 p.His334Tyr Polymorphism rs28930677 - EPB41 P11171 VAR_009122 p.Val214Ile Polymorphism - - EPB42 P16452 VAR_007482 p.Ala112Thr Disease rs28933988 Spherocytosis type 5 (SPH5) [MIM:612690] EPB42 P16452 VAR_012268 p.Arg280Gln Disease - Spherocytosis type 5 (SPH5) [MIM:612690] EPB42 P16452 VAR_058099 p.Asp145Tyr Disease - Spherocytosis type 5 (SPH5) [MIM:612690] EPB42 P16452 VAR_058100 p.Arg287Cys Disease - Spherocytosis type 5 (SPH5) [MIM:612690] EPCAM P16422 VAR_018329 p.Met115Thr Polymorphism rs1126497 - EPCAM P16422 VAR_063829 p.Cys66Tyr Disease - Diarrhea 5, with tufting enteropathy, congenital (DIAR5) [MIM:613217] EPG5 Q9HCE0 VAR_035278 p.Glu844Asp Polymorphism rs3744999 - EPG5 Q9HCE0 VAR_035279 p.Val1058Ala Polymorphism rs3744998 - EPG5 Q9HCE0 VAR_035280 p.Ile1131Val Polymorphism rs3744997 - EPG5 Q9HCE0 VAR_035281 p.Ala1511Val Polymorphism rs1893523 - EPG5 Q9HCE0 VAR_035282 p.Ser1864Asn Polymorphism rs34064739 - EPG5 Q9HCE0 VAR_035283 p.Arg1985Gln Polymorphism rs34674177 - EPG5 Q9HCE0 VAR_036525 p.Ala1511Thr Unclassified - A breast cancer sample EPG5 Q9HCE0 VAR_036526 p.Cys1865Tyr Unclassified - A breast cancer sample EPG5 Q9HCE0 VAR_036527 p.Arg2056Trp Unclassified - A breast cancer sample EPG5 Q9HCE0 VAR_062210 p.Lys182Glu Polymorphism rs59422275 - EPHA10 Q5JZY3 VAR_042159 p.Arg150His Unclassified - A gastric adenocarcinoma sample EPHA10 Q5JZY3 VAR_042160 p.Thr220Lys Polymorphism rs56276182 - EPHA10 Q5JZY3 VAR_042161 p.Phe281Ile Polymorphism rs4653328 - EPHA10 Q5JZY3 VAR_042162 p.Leu630Pro Polymorphism - - EPHA10 Q5JZY3 VAR_042163 p.His775Arg Unclassified - A breast infiltrating ductal carcinoma sample EPHA10 Q5JZY3 VAR_042164 p.Ala956Thr Polymorphism - - EPHA10 Q5JZY3 VAR_055992 p.Val103Leu Polymorphism rs34557762 - EPHA10 Q5JZY3 VAR_055993 p.Leu629Pro Polymorphism rs17511304 - EPHA10 Q5JZY3 VAR_055994 p.Val645Ile Polymorphism rs12405650 - EPHA10 Q5JZY3 VAR_055995 p.Gly749Glu Polymorphism rs6671088 - EPHA10 Q5JZY3 VAR_055996 p.Arg807Gln Polymorphism rs6670599 - EPHA1 P21709 VAR_028265 p.Val160Ala Polymorphism rs4725617 - EPHA1 P21709 VAR_028266 p.Arg492Gln Polymorphism rs11768549 - EPHA1 P21709 VAR_028267 p.Met900Val Polymorphism rs6967117 - EPHA1 P21709 VAR_042115 p.Arg351Cys Polymorphism rs56006153 - EPHA1 P21709 VAR_042116 p.Arg575Gln Polymorphism rs35719334 - EPHA1 P21709 VAR_042117 p.Ala585Thr Polymorphism rs34178823 - EPHA1 P21709 VAR_042118 p.Pro697Leu Polymorphism rs34372369 - EPHA1 P21709 VAR_042119 p.Glu703Lys Unclassified - A breast pleomorphic lobular carcinoma sample EPHA1 P21709 VAR_042120 p.Ser807Arg Polymorphism rs56244405 - EPHA2 P29317 VAR_042121 p.Gly391Arg Polymorphism rs34192549 - EPHA2 P29317 VAR_042122 p.Thr511Met Polymorphism rs55747232 - EPHA2 P29317 VAR_042123 p.Arg568His Polymorphism rs56198600 - EPHA2 P29317 VAR_042124 p.Gly777Ser Unclassified - A gastric adenocarcinoma sample EPHA2 P29317 VAR_042125 p.Arg876His Polymorphism rs35903225 - EPHA2 P29317 VAR_055989 p.Lys99Asn Polymorphism rs1058372 - EPHA2 P29317 VAR_055990 p.Met631Thr Polymorphism rs34021505 - EPHA2 P29317 VAR_058907 p.Thr940Ile Disease - Cataract posterior polar type 1 (CTPP1) [MIM:116600] EPHA2 P29317 VAR_058908 p.Gly948Trp Disease - Cataract posterior polar type 1 (CTPP1) [MIM:116600] EPHA2 P29317 VAR_062532 p.Arg721Gln Disease - Cataract cortical age-related type 2 (ARCC2) [MIM:613020] EPHA3 P29320 VAR_027919 p.Arg914His Polymorphism rs17801309 - EPHA3 P29320 VAR_036086 p.Thr37Lys Unclassified - A colorectal cancer sample EPHA3 P29320 VAR_036087 p.Asn85Ser Unclassified - A colorectal cancer sample EPHA3 P29320 VAR_036088 p.Ile621Leu Unclassified - A colorectal cancer sample EPHA3 P29320 VAR_036089 p.Asp806Asn Unclassified - A colorectal cancer sample EPHA3 P29320 VAR_042126 p.Ser229Tyr Unclassified - A lung large cell carcinoma sample EPHA3 P29320 VAR_042127 p.Ser449Phe Unclassified - A lung neuroendocrine carcinoma sample EPHA3 P29320 VAR_042128 p.Gly518Leu Unclassified - A lung squamous cell carcinoma sample EPHA3 P29320 VAR_042129 p.Ile564Val Polymorphism rs55712516 - EPHA3 P29320 VAR_042130 p.Cys568Ser Polymorphism rs56077781 - EPHA3 P29320 VAR_042131 p.Leu590Pro Polymorphism rs56081642 - EPHA3 P29320 VAR_042132 p.Gly766Glu Unclassified - A lung adenocarcinoma sample EPHA3 P29320 VAR_042133 p.Ala777Gly Polymorphism rs34437982 - EPHA3 P29320 VAR_042134 p.Trp924Arg Polymorphism rs35124509 - EPHA4 P54764 VAR_042135 p.Arg269Gln Polymorphism rs35084379 - EPHA4 P54764 VAR_042136 p.Gly370Glu Unclassified - A bladder carcinoma NOS sample EPHA4 P54764 VAR_042137 p.Ser399Phe Unclassified - A metastatic melanoma sample EPHA4 P54764 VAR_049721 p.Arg953Lys Polymorphism rs35341687 - EPHA5 P54756 VAR_042138 p.Asn81Thr Polymorphism rs33932471 - EPHA5 P54756 VAR_042139 p.Ser235Ala Polymorphism rs55710198 - EPHA5 P54756 VAR_042140 p.Glu330Gln Polymorphism rs56205382 - EPHA5 P54756 VAR_042141 p.Arg417Gln Unclassified - A lung adenocarcinoma sample EPHA5 P54756 VAR_042142 p.Glu503Lys Unclassified - A lung large cell carcinoma sample EPHA5 P54756 VAR_042143 p.Gly582Glu Unclassified - A lung adenocarcinoma sample EPHA5 P54756 VAR_042144 p.Ala672Thr Polymorphism rs36050417 - EPHA5 P54756 VAR_042145 p.Ser673Thr Polymorphism rs56359290 - EPHA5 P54756 VAR_042146 p.Thr856Ile Unclassified - A lung squamous cell carcinoma sample EPHA5 P54756 VAR_042147 p.His959Arg Polymorphism rs56312931 - EPHA5 P54756 VAR_042148 p.Asn1032Ser Unclassified - A lung large cell carcinoma sample EPHA5 P54756 VAR_045912 p.Tyr506Cys Polymorphism rs56074660 - EPHA6 Q9UF33 VAR_042149 p.Phe703Ser Polymorphism - - EPHA6 Q9UF33 VAR_055991 p.Ala710Val Polymorphism rs4857276 - EPHA7 Q15375 VAR_022105 p.Ile138Val Polymorphism rs2278107 - EPHA7 Q15375 VAR_022106 p.Pro278Ser Polymorphism rs2278106 - EPHA7 Q15375 VAR_036090 p.Arg371Trp Unclassified - A colorectal cancer sample EPHA7 Q15375 VAR_042150 p.Glu170Lys Unclassified - A colorectal adenocarcinoma sample EPHA7 Q15375 VAR_042151 p.Gly232Arg Unclassified - A metastatic melanoma sample EPHA7 Q15375 VAR_042152 p.Pro903Ser Unclassified - A metastatic melanoma sample EPHA8 P29322 VAR_022107 p.Val444Met Polymorphism rs2295021 - EPHA8 P29322 VAR_024514 p.Glu612Gln Polymorphism rs999765 - EPHA8 P29322 VAR_042153 p.Gly45Ser Polymorphism rs45498698 - EPHA8 P29322 VAR_042154 p.Val60Leu Polymorphism rs56402644 - EPHA8 P29322 VAR_042155 p.Asn123Lys Unclassified - A breast infiltrating ductal carcinoma sample EPHA8 P29322 VAR_042156 p.Arg179Cys Unclassified - A gastric adenocarcinoma sample EPHA8 P29322 VAR_042157 p.Arg198Leu Unclassified - A lung adenocarcinoma sample EPHA8 P29322 VAR_042158 p.Pro860Leu Unclassified - A metastatic melanoma sample EPHA8 P29322 VAR_061292 p.Pro321Leu Polymorphism rs56656925 - EPHB1 P54762 VAR_011801 p.Thr87Ser Polymorphism rs1042794 - EPHB1 P54762 VAR_011802 p.Gly152Arg Polymorphism rs1042793 - EPHB1 P54762 VAR_011803 p.Arg367Gly Polymorphism rs1042789 - EPHB1 P54762 VAR_011804 p.Arg485Ser Polymorphism rs1042788 - EPHB1 P54762 VAR_011805 p.Met847Thr Polymorphism rs1042785 - EPHB1 P54762 VAR_042165 p.Met18Val Polymorphism rs55650774 - EPHB1 P54762 VAR_042166 p.Thr387Met Polymorphism rs56396912 - EPHB1 P54762 VAR_042167 p.Ser707Thr Unclassified - An ovarian undifferentiated carcinoma sample EPHB1 P54762 VAR_042168 p.Ile719Val Unclassified - A gastric adenocarcinoma sample EPHB1 P54762 VAR_042169 p.Arg743Gln Unclassified - A gastric adenocarcinoma sample EPHB1 P54762 VAR_042170 p.Ala912Thr Polymorphism rs56345346 - EPHB1 P54762 VAR_042171 p.Thr981Met Polymorphism rs56186270 - EPHB1 P54762 VAR_058479 p.Arg973Trp Polymorphism rs1042784 - EPHB2 P29323 VAR_032853 p.Arg199His Disease - Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032854 p.Ala279Ser Disease rs35882952 Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032855 p.Val650Ala Disease - Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032856 p.His679Asn Disease - Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032857 p.Met883Val Disease - Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_032858 p.Ile909Met Disease - Prostate cancer (PC) [MIM:176807] EPHB2 P29323 VAR_042172 p.Cys289Gly Polymorphism - - EPHB2 P29323 VAR_042173 p.Ile361Val Polymorphism rs56180036 - EPHB2 P29323 VAR_042174 p.Asp678Asn Polymorphism rs28936395 - EPHB2 P29323 VAR_042175 p.Arg844Trp Polymorphism rs55826626 - EPHB3 P54753 VAR_042176 p.Arg168Leu Unclassified - A lung small cell carcinoma sample EPHB3 P54753 VAR_042177 p.Arg440Cys Polymorphism rs56029711 - EPHB3 P54753 VAR_042178 p.Ile579Val Polymorphism rs56103851 - EPHB3 P54753 VAR_042179 p.Ile601Leu Polymorphism rs56129875 - EPHB3 P54753 VAR_042180 p.Arg724Trp Unclassified - A lung neuroendocrine carcinoma sample EPHB4 P54760 VAR_042181 p.Pro67Leu Polymorphism rs34653459 - EPHB4 P54760 VAR_042182 p.Val113Ile Polymorphism rs55866373 - EPHB4 P54760 VAR_042183 p.Pro346Leu Unclassified - A metastatic melanoma sample EPHB4 P54760 VAR_042184 p.Ala371Val Polymorphism rs55720981 - EPHB4 P54760 VAR_042185 p.Asp576Glu Polymorphism rs36050247 - EPHB4 P54760 VAR_042186 p.Arg678His Polymorphism rs55692440 - EPHB4 P54760 VAR_042187 p.Ala882Thr Polymorphism rs34918225 - EPHB4 P54760 VAR_042188 p.Arg889Trp Unclassified - A gastric adenocarcinoma sample EPHB4 P54760 VAR_042189 p.Glu890Asp Polymorphism rs35638378 - EPHB6 O15197 VAR_019139 p.Gly122Ser Polymorphism rs8177173 - EPHB6 O15197 VAR_019140 p.Pro282Arg Polymorphism rs8177143 - EPHB6 O15197 VAR_019141 p.Ser324Ala Polymorphism rs8177146 - EPHB6 O15197 VAR_019142 p.Arg499Gln Polymorphism rs8177175 - EPHB6 O15197 VAR_036091 p.Asp360Asn Unclassified - A colorectal cancer sample EPHB6 O15197 VAR_036092 p.Ala603Pro Unclassified - A colorectal cancer sample EPHB6 O15197 VAR_036093 p.Arg719Gln Unclassified - A colorectal cancer sample EPHB6 O15197 VAR_036094 p.Asp930Gly Unclassified - A colorectal cancer sample EPHB6 O15197 VAR_042190 p.Ser170Thr Polymorphism - - EPHB6 O15197 VAR_042191 p.Ala221Val Polymorphism - - EPHB6 O15197 VAR_042192 p.Pro282His Polymorphism - - EPHB6 O15197 VAR_042193 p.Arg309Gln Polymorphism - - EPHB6 O15197 VAR_042194 p.Ser332Leu Polymorphism - - EPHB6 O15197 VAR_042195 p.Ala662Val Polymorphism - - EPHB6 O15197 VAR_042196 p.Pro743Ser Unclassified - An ovarian mucinous carcinoma sample EPHB6 O15197 VAR_042197 p.Arg813His Polymorphism - - EPHB6 O15197 VAR_042198 p.Glu875Lys Unclassified - A glioblastoma multiforme sample EPHB6 O15197 VAR_042199 p.Ile993Val Polymorphism - - EPHX1 P07099 VAR_005295 p.Tyr113His Polymorphism rs1051740 - EPHX1 P07099 VAR_005296 p.His139Arg Polymorphism rs2234922 - EPHX1 P07099 VAR_005297 p.Thr396Ile Polymorphism - - EPHX1 P07099 VAR_013298 p.Arg49Cys Polymorphism rs2234697 - EPHX1 P07099 VAR_013299 p.Leu260Pro Polymorphism - - EPHX1 P07099 VAR_013300 p.Arg454Gln Polymorphism rs2234701 - EPHX1 P07099 VAR_018347 p.Glu44Gln Polymorphism - - EPHX1 P07099 VAR_023303 p.Arg43Thr Polymorphism rs3738046 - EPHX1 P07099 VAR_023304 p.Val285Leu Polymorphism rs45449793 - EPHX1 P07099 VAR_023305 p.Thr408Met Polymorphism rs45495897 - EPHX1 P07099 VAR_023306 p.Leu452Gln Polymorphism rs45563137 - EPHX1 P07099 VAR_051828 p.Thr275Ala Polymorphism rs35073925 - EPHX2 P34913 VAR_014852 p.Arg287Gln Polymorphism rs751141 - EPHX2 P34913 VAR_033991 p.Arg103Cys Polymorphism rs17057255 - EPHX2 P34913 VAR_051059 p.Lys55Arg Polymorphism rs41507953 - EPHX2 P34913 VAR_055392 p.Gly21Ala Polymorphism - - EPHX2 P34913 VAR_055393 p.Arg52Gln Polymorphism - - EPHX2 P34913 VAR_055394 p.Cys154Tyr Polymorphism rs57699806 - EPHX2 P34913 VAR_055395 p.Pro225Leu Polymorphism - - EPHX2 P34913 VAR_055396 p.Met369Val Polymorphism - - EPHX2 P34913 VAR_055397 p.Glu470Gly Unclassified - - EPHX4 Q8IUS5 VAR_031235 p.Tyr321Phe Polymorphism rs17854127 - EPM2AIP1 Q7L775 VAR_050969 p.Val333Phe Polymorphism rs4647202 - EPM2AIP1 Q7L775 VAR_050970 p.Ala360Ser Polymorphism rs4647201 - EPM2A O95278 VAR_019465 p.Ser25Pro Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019466 p.Glu28Lys Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019467 p.Trp32Gly Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019468 p.Ala46Pro Unclassified - - EPM2A O95278 VAR_019469 p.Phe84Leu Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019470 p.Phe88Leu Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019471 p.Arg91Pro Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019472 p.Arg108Cys Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019473 p.Glu114Asp Polymorphism - - EPM2A O95278 VAR_019474 p.Arg171His Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019475 p.Thr187Ala Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019476 p.Thr194Ile Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019477 p.Gly240Ser Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019478 p.Gly279Ser Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019479 p.Gln293Leu Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019480 p.Tyr294Asn Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_019481 p.Pro301Leu Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_046383 p.Lys140Asn Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_046384 p.Asn148Tyr Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_046385 p.Glu210Lys Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPM2A O95278 VAR_046386 p.Leu310Trp Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] EPN2 O95208 VAR_047923 p.Pro531Thr Polymorphism rs1062727 - EPN2 O95208 VAR_053080 p.Val401Ala Polymorphism rs6587220 - EPN2 O95208 VAR_053081 p.Pro532Thr Polymorphism rs1062727 - EPN3 Q9H201 VAR_059973 p.Pro544Thr Polymorphism rs4794159 - EPO P01588 VAR_009871 p.Pro149Gln Unclassified - A hepatocellular carcinoma EPOR P19235 VAR_027372 p.Asn487Ser Disease - Familial erythrocytosis type 1 (ECYT1) [MIM:133100] EPOR P19235 VAR_027373 p.Pro488Ser Disease - Familial erythrocytosis type 1 (ECYT1) [MIM:133100] EPOR P19235 VAR_033919 p.Pro380Ala Polymorphism rs35423344 - EPPIN O95925 VAR_024696 p.His92Arg Polymorphism rs2231838 - EPPIN O95925 VAR_052950 p.Lys128Thr Polymorphism rs2231839 - EPRS P07814 VAR_037288 p.Ala296Pro Polymorphism rs35999099 - EPRS P07814 VAR_037289 p.Asp308Glu Polymorphism rs2230301 - EPRS P07814 VAR_037290 p.Gln334His Polymorphism rs1063236 - EPRS P07814 VAR_037291 p.Pro893His Polymorphism rs5030751 - EPRS P07814 VAR_037292 p.Ile1043Val Polymorphism rs5030752 - EPRS P07814 VAR_037293 p.Ser1107Phe Polymorphism rs12144752 - EPRS P07814 VAR_037294 p.Thr1399Asn Polymorphism rs34559775 - EPRS P07814 VAR_057358 p.Glu913Gly Polymorphism rs2230302 - EPS15 P42566 VAR_016142 p.Ile822Met Polymorphism rs17567 - EPS8L1 Q8TE68 VAR_056870 p.Gln457Glu Polymorphism rs1628576 - EPS8L1 Q8TE68 VAR_060375 p.Ala4Thr Polymorphism rs12609976 - EPS8L1 Q8TE68 VAR_060376 p.Arg288Gly Polymorphism rs1620074 - EPS8L1 Q8TE68 VAR_060377 p.Lys669Arg Polymorphism rs1054940 - EPS8L1 Q8TE68 VAR_061647 p.Leu703Pro Polymorphism rs60073068 - EPS8L3 Q8TE67 VAR_026580 p.Gly163Ser Polymorphism rs6693815 - EPS8L3 Q8TE67 VAR_026581 p.His293Tyr Polymorphism rs3818562 - EPS8L3 Q8TE67 VAR_026582 p.Pro356Ser Polymorphism rs11102001 - EPS8L3 Q8TE67 VAR_050976 p.Met35Ile Polymorphism rs17598321 - EPS8L3 Q8TE67 VAR_050977 p.Arg581Gln Polymorphism rs35072794 - EPS8 Q12929 VAR_050971 p.Asp761Glu Polymorphism rs7137185 - EPS8 Q12929 VAR_050972 p.Ala806Ser Polymorphism rs1802658 - EPX P11678 VAR_015376 p.Arg286His Disease - Eosinophil peroxidase deficiency (EPD) [MIM:261500] EPX P11678 VAR_020031 p.Asn572Tyr Polymorphism rs2302311 - EPX P11678 VAR_025138 p.Ile40Met Polymorphism rs11079339 - EPX P11678 VAR_025139 p.Gln122His Polymorphism rs11652709 - EPX P11678 VAR_025140 p.Ala249Glu Polymorphism rs35896669 - EPX P11678 VAR_025141 p.Lys276Arg Polymorphism rs35074452 - EPX P11678 VAR_025142 p.Pro292Leu Polymorphism rs33971258 - EPX P11678 VAR_025143 p.Arg326Pro Polymorphism rs35832094 - EPX P11678 VAR_025144 p.Pro358Leu Polymorphism rs35135976 - EPX P11678 VAR_025145 p.Arg364His Polymorphism rs35232062 - EPX P11678 VAR_025146 p.Lys441Thr Polymorphism rs35750729 - EPX P11678 VAR_025147 p.His496Gln Polymorphism rs33955150 - EPX P11678 VAR_050485 p.Val35Ile Polymorphism rs34553736 - EPX P11678 VAR_050486 p.Val458Met Polymorphism rs34817773 - EPX P11678 VAR_060197 p.Arg326His Polymorphism - - EPX P11678 VAR_060198 p.Arg326Leu Polymorphism - - EPYC Q99645 VAR_031595 p.Ser150Cys Polymorphism rs17784152 - EQTN Q9NQ60 VAR_032136 p.Asn101Asp Polymorphism rs12337286 - EQTN Q9NQ60 VAR_032137 p.Thr274Lys Polymorphism rs41305329 - EQTN Q9NQ60 VAR_056727 p.Ile110Thr Polymorphism rs12341576 - ERAP1 Q9NZ08 VAR_012779 p.Arg127Pro Polymorphism rs26653 - ERAP1 Q9NZ08 VAR_012780 p.Ile276Met Polymorphism rs26618 - ERAP1 Q9NZ08 VAR_012781 p.Gly346Asp Polymorphism rs27895 - ERAP1 Q9NZ08 VAR_012782 p.Met349Val Polymorphism rs2287987 - ERAP1 Q9NZ08 VAR_012783 p.Lys528Arg Polymorphism rs30187 - ERAP1 Q9NZ08 VAR_012784 p.Gln730Glu Polymorphism rs27044 - ERAP1 Q9NZ08 VAR_021555 p.Asp575Asn Polymorphism rs10050860 - ERAP1 Q9NZ08 VAR_021556 p.Arg725Gln Polymorphism rs17482078 - ERAP1 Q9NZ08 VAR_046681 p.Glu56Lys Polymorphism rs3734016 - ERAP1 Q9NZ08 VAR_046682 p.Asp575Gly Polymorphism rs6863093 - ERAP2 Q6P179 VAR_038285 p.Pro214Leu Polymorphism rs3733905 - ERAP2 Q6P179 VAR_038286 p.Lys392Asn Polymorphism rs2549782 - ERAP2 Q6P179 VAR_038287 p.Leu669Gln Polymorphism rs17408150 - ERAP2 Q6P179 VAR_051569 p.Leu411Arg Polymorphism rs34261036 - ERBB2IP Q96RT1 VAR_019346 p.Ser274Leu Polymorphism rs3213837 - ERBB2IP Q96RT1 VAR_019347 p.Ser1112Leu Polymorphism rs3805466 - ERBB2IP Q96RT1 VAR_019348 p.Lys1207Glu Polymorphism - - ERBB2IP Q96RT1 VAR_028304 p.Lys746Glu Polymorphism rs16894812 - ERBB2IP Q96RT1 VAR_046673 p.Lys914Arg Polymorphism rs34521887 - ERBB2IP Q96RT1 VAR_046674 p.Gly1089Val Polymorphism rs35601230 - ERBB2 P04626 VAR_004077 p.Ile654Val Polymorphism rs1801201 - ERBB2 P04626 VAR_004078 p.Ile655Val Polymorphism rs1136201 - ERBB2 P04626 VAR_016317 p.Trp452Cys Polymorphism rs4252633 - ERBB2 P04626 VAR_016318 p.Pro1170Ala Polymorphism rs61552325 - ERBB2 P04626 VAR_042097 p.Leu768Ser Polymorphism rs56366519 - ERBB2 P04626 VAR_042098 p.Gly776Ser Unclassified rs28933369 A gastric adenocarcinoma sample ERBB2 P04626 VAR_042099 p.Asn857Ser Unclassified rs28933370 An ovarian cancer sample ERBB2 P04626 VAR_042100 p.Ala1216Asp Polymorphism rs55943169 - ERBB2 P04626 VAR_055432 p.Leu755Pro Unclassified - A lung adenocarcinoma sample ERBB2 P04626 VAR_055435 p.Glu914Lys Unclassified rs28933368 A glioblastoma sample ERBB3 P21860 VAR_042101 p.Ser20Tyr Polymorphism rs34379766 - ERBB3 P21860 VAR_042102 p.Pro30Leu Polymorphism rs56017157 - ERBB3 P21860 VAR_042103 p.Val104Met Unclassified - An ovarian mucinous carcinoma sample ERBB3 P21860 VAR_042104 p.Thr204Ile Polymorphism rs56107455 - ERBB3 P21860 VAR_042105 p.Arg683Trp Polymorphism rs56387488 - ERBB3 P21860 VAR_042106 p.Ser717Leu Polymorphism rs35961836 - ERBB3 P21860 VAR_042107 p.Ile744Thr Polymorphism rs55787439 - ERBB3 P21860 VAR_042108 p.Lys998Arg Polymorphism rs56259600 - ERBB3 P21860 VAR_042109 p.Ser1119Cys Polymorphism rs773123 - ERBB3 P21860 VAR_042110 p.Arg1127His Polymorphism rs2271188 - ERBB3 P21860 VAR_042111 p.Leu1177Ile Polymorphism rs55699040 - ERBB3 P21860 VAR_042112 p.Thr1254Lys Polymorphism rs55709407 - ERBB3 P21860 VAR_049710 p.Asn385Ser Polymorphism rs12320176 - ERBB3 P21860 VAR_049711 p.Gly1271Ser Polymorphism rs11171743 - ERBB4 Q15303 VAR_042113 p.Thr140Ile Unclassified - A colorectal adenocarcinoma sample ERBB4 Q15303 VAR_042114 p.Ser303Tyr Unclassified - A lung squamous cell carcinoma sample ERC1 Q8IUD2 VAR_051304 p.Ser50Gly Polymorphism rs35037408 - ERC1 Q8IUD2 VAR_051305 p.Thr1032Ala Polymorphism rs12319376 - ERC2 O15083 VAR_050973 p.Asn542Ser Polymorphism rs12488237 - ERCC1 P07992 VAR_019167 p.Ala266Thr Polymorphism rs3212977 - ERCC1 P07992 VAR_032776 p.Phe231Leu Disease - Cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758] ERCC2 P18074 VAR_003622 p.Arg112His Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_003622 p.Arg112His Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003623 p.Leu461Val Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_003623 p.Leu461Val Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003625 p.Ser541Arg Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003626 p.Arg616Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_003626 p.Arg616Pro Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003627 p.Gly602Asp Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_003628 p.Gly675Arg Unclassified - - ERCC2 P18074 VAR_003630 p.Arg722Trp Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_003631 p.Ala725Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_008187 p.Gly47Arg Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008188 p.Asp234Asn Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008189 p.Cys259Tyr Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_008191 p.Tyr542Cys Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008192 p.Arg601Leu Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008193 p.Arg616Trp Disease - Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756] ERCC2 P18074 VAR_008193 p.Arg616Trp Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008194 p.Arg658Cys Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_008195 p.Arg658His Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_008196 p.Asp673Gly Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_008197 p.Arg683Gln Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008198 p.Arg683Trp Disease rs41556519 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_008199 p.Gly713Arg Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_011412 p.Ile199Met Polymorphism rs1799791 - ERCC2 P18074 VAR_011413 p.His201Tyr Polymorphism rs1799792 - ERCC2 P18074 VAR_011414 p.Asp312Asn Polymorphism rs1799793 - ERCC2 P18074 VAR_011415 p.Arg616Cys Polymorphism - - ERCC2 P18074 VAR_011416 p.Lys751Gln Polymorphism rs13181 - ERCC2 P18074 VAR_017282 p.Thr76Ala Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017283 p.Leu485Pro Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017284 p.Arg487Gly Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_017285 p.Arg511Gln Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017287 p.Arg592Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_017288 p.Ala594Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_017289 p.Arg601Trp Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017290 p.Arg658Gly Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_017291 p.Cys663Arg Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC2 P18074 VAR_017292 p.Arg666Trp Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2 P18074 VAR_017293 p.Asp681Asn Disease - Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756] ERCC2 P18074 VAR_017293 p.Asp681Asn Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC3 P19447 VAR_003632 p.Phe99Ser Disease - Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651] ERCC3 P19447 VAR_008186 p.Thr119Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] ERCC3 P19447 VAR_014344 p.Ser735Pro Polymorphism rs4150522 - ERCC3 P19447 VAR_014766 p.Lys117Arg Polymorphism rs1805161 - ERCC3 P19447 VAR_014767 p.Gly402Cys Polymorphism rs1805162 - ERCC3 P19447 VAR_017294 p.Ser704Leu Polymorphism rs4150521 - ERCC3 P19447 VAR_035942 p.Lys418Gln Unclassified - A breast cancer sample ERCC4 Q92889 VAR_005849 p.Gly703Asp Polymorphism - - ERCC4 Q92889 VAR_005850 p.Arg799Trp Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008200 p.Ile225Met Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008201 p.Arg454Trp Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008202 p.Arg490Gln Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008203 p.Glu502Lys Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008204 p.Gly513Arg Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008205 p.Ile529Thr Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_008206 p.Thr567Ala Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_013395 p.Pro379Ser Polymorphism rs1799802 - ERCC4 Q92889 VAR_013396 p.Arg415Gln Polymorphism rs1800067 - ERCC4 Q92889 VAR_013397 p.Arg576Thr Polymorphism rs1800068 - ERCC4 Q92889 VAR_013398 p.Leu608Pro Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4 Q92889 VAR_013399 p.Ile717Thr Polymorphism - - ERCC4 Q92889 VAR_013408 p.Glu875Gly Polymorphism rs1800124 - ERCC4 Q92889 VAR_014769 p.Ala168Val Polymorphism rs2020961 - ERCC4 Q92889 VAR_014770 p.Ser662Pro Polymorphism rs2020955 - ERCC4 Q92889 VAR_014771 p.Ile706Thr Polymorphism rs1800069 - ERCC4 Q92889 VAR_014772 p.Gly912Glu Polymorphism rs2020956 - ERCC4 Q92889 VAR_019201 p.Ile873Val Polymorphism rs2020957 - ERCC4 Q92889 VAR_034802 p.Arg153Pro Disease - XFE progeroid syndrome (XFEPS) [MIM:610965] ERCC4 Q92889 VAR_057477 p.Val33Leu Polymorphism rs34205098 - ERCC4 Q92889 VAR_057478 p.Ser768Phe Polymorphism rs12928650 - ERCC4 Q92889 VAR_057479 p.Ala860Asp Polymorphism rs4986933 - ERCC5 P28715 VAR_007732 p.Met254Val Polymorphism rs1047769 - ERCC5 P28715 VAR_007733 p.Ala792Val Disease - Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_007734 p.Asp1104His Polymorphism rs17655 - ERCC5 P28715 VAR_014829 p.Ser311Cys Polymorphism rs2307491 - ERCC5 P28715 VAR_015280 p.Pro72His Disease - Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_017096 p.Ala874Thr Disease rs28929496 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_017097 p.Leu858Pro Disease - Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] ERCC5 P28715 VAR_020431 p.Val145Ile Polymorphism rs4987063 - ERCC5 P28715 VAR_020432 p.Gln256Arg Polymorphism rs4150313 - ERCC5 P28715 VAR_020433 p.Cys529Ser Polymorphism rs2227869 - ERCC5 P28715 VAR_020434 p.Gln680Arg Polymorphism rs4987168 - ERCC5 P28715 VAR_020435 p.Asn879Ser Polymorphism rs4150342 - ERCC5 P28715 VAR_020436 p.Ala1119Val Polymorphism rs2227871 - ERCC5 P28715 VAR_023120 p.His181Arg Polymorphism rs4150295 - ERCC5 P28715 VAR_023121 p.Glu399Lys Polymorphism rs4150315 - ERCC5 P28715 VAR_023122 p.Val590Ile Polymorphism rs4150318 - ERCC5 P28715 VAR_023123 p.Val597Leu Polymorphism rs4150319 - ERCC5 P28715 VAR_023124 p.Arg1009His Polymorphism rs4150387 - ERCC5 P28715 VAR_023125 p.Gly1080Gln Polymorphism - - ERCC5 P28715 VAR_046373 p.Phe670Leu Polymorphism rs1803542 - ERCC5 P28715 VAR_046374 p.Gly1053Arg Polymorphism rs9514066 - ERCC5 P28715 VAR_046375 p.Gly1080Arg Polymorphism rs9514067 - ERCC6 Q03468 VAR_001216 p.Lys255Thr Polymorphism - - ERCC6 Q03468 VAR_001217 p.Gly399Asp Polymorphism rs2228528 - ERCC6 Q03468 VAR_001218 p.Arg670Trp Disease - Cockayne syndrome type B (CSB) [MIM:133540] ERCC6 Q03468 VAR_001219 p.Trp851Arg Disease - Cockayne syndrome type B (CSB) [MIM:133540] ERCC6 Q03468 VAR_001220 p.Val957Gly Disease - Cockayne syndrome type B (CSB) [MIM:133540] ERCC6 Q03468 VAR_001221 p.Pro1042Leu Disease - Cockayne syndrome type B (CSB) [MIM:133540] ERCC6 Q03468 VAR_001222 p.Pro1095Arg Polymorphism rs4253208 - ERCC6 Q03468 VAR_001223 p.Met1097Val Polymorphism rs2228526 - ERCC6 Q03468 VAR_001224 p.Arg1213Gly Polymorphism rs2228527 - ERCC6 Q03468 VAR_001225 p.Gln1413Arg Polymorphism rs2228529 - ERCC6 Q03468 VAR_016301 p.Asp425Ala Polymorphism rs4253046 - ERCC6 Q03468 VAR_016302 p.Gly446Asp Polymorphism rs4253047 - ERCC6 Q03468 VAR_016303 p.Thr942Met Polymorphism rs2228525 - ERCC6 Q03468 VAR_016304 p.Tyr1002Cys Polymorphism rs4253206 - ERCC6 Q03468 VAR_016305 p.Arg1230Pro Polymorphism rs4253211 - ERCC6 Q03468 VAR_016306 p.Val1308Leu Polymorphism rs2229761 - ERCC6 Q03468 VAR_016307 p.Gly1322Val Polymorphism rs4253219 - ERCC6 Q03468 VAR_016308 p.Gly1372Arg Polymorphism rs4253227 - ERCC6 Q03468 VAR_016309 p.Gly1382Arg Polymorphism rs4253228 - ERCC6 Q03468 VAR_016310 p.Gly1410Arg Polymorphism rs4253229 - ERCC6 Q03468 VAR_016311 p.Thr1441Ile Polymorphism rs4253230 - ERCC6 Q03468 VAR_036021 p.Pro591Ala Unclassified - A colorectal cancer sample ERCC6 Q03468 VAR_036022 p.Arg652Leu Unclassified - A colorectal cancer sample ERCC6 Q03468 VAR_036023 p.Arg1038Thr Unclassified - A breast cancer sample ERCC6 Q03468 VAR_036024 p.Glu1119Gln Unclassified - A breast cancer sample ERCC6 Q03468 VAR_036025 p.Glu1119Val Unclassified - A breast cancer sample ERCC6 Q03468 VAR_037436 p.Thr1220Ile Polymorphism rs34704611 - ERCC6 Q03468 VAR_037437 p.Asp1355Glu Polymorphism rs34917815 - ERCC6 Q03468 VAR_054153 p.Arg134Trp Polymorphism - - ERCC6 Q03468 VAR_063511 p.Asn680Asp Disease - Cockayne syndrome type B (CSB) [MIM:133540] ERCC6 Q03468 VAR_063512 p.Trp686Cys Disease - Cockayne syndrome type B (CSB) [MIM:133540] ERCC6 Q03468 VAR_063513 p.Ser687Leu Disease - Cockayne syndrome type B (CSB) [MIM:133540] ERCC6 Q03468 VAR_063514 p.Leu871Pro Disease - Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) [MIM:214150] ERCC6 Q03468 VAR_063515 p.Leu987Pro Disease - Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) [MIM:214150] ERCC8 Q13216 VAR_016319 p.Tyr200Cys Polymorphism rs4647105 - ERCC8 Q13216 VAR_025380 p.Ala160Val Disease - Cockayne syndrome type A (CSA) [MIM:216400] ERCC8 Q13216 VAR_025381 p.Ala205Pro Disease - Cockayne syndrome type A (CSA) [MIM:216400] ERCC8 Q13216 VAR_053392 p.Ser150Cys Polymorphism rs167037 - ERCC8 Q13216 VAR_063507 p.Ala160Thr Disease - Cockayne syndrome type A (CSA) [MIM:216400] ERCC8 Q13216 VAR_063508 p.Trp194Cys Disease - Cockayne syndrome type A (CSA) [MIM:216400] ERCC8 Q13216 VAR_063509 p.Leu202Ser Disease - Cockayne syndrome type A (CSA) [MIM:216400] ERCC8 Q13216 VAR_063510 p.Asp266Gly Disease - Cockayne syndrome type A (CSA) [MIM:216400] EREG O14944 VAR_033827 p.Arg147Gln Polymorphism rs35275884 - EREG O14944 VAR_035833 p.Gly42Ala Unclassified - A breast cancer sample ERF P50548 VAR_048947 p.Arg205His Polymorphism rs1053655 - ERGIC3 Q9Y282 VAR_036553 p.Thr297Lys Unclassified - A colorectal cancer sample ERGIC3 Q9Y282 VAR_048939 p.Ile113Leu Polymorphism rs35505616 - ERI1 Q8IV48 VAR_018107 p.Leu16Pro Polymorphism rs2288672 - ERI2 A8K979 VAR_043848 p.Ile206Thr Unclassified - A colorectal cancer sample ERICH1 Q86X53 VAR_035915 p.Leu365Phe Unclassified - A colorectal cancer sample ERICH1 Q86X53 VAR_050974 p.Arg403Ser Polymorphism rs1703879 - ERLEC1 Q96DZ1 VAR_051493 p.Val318Leu Polymorphism rs2287345 - ERLIN2 O94905 VAR_059140 p.Val71Ala Polymorphism rs2032066 - ERMAP Q96PL5 VAR_025478 p.Ala4Val Polymorphism rs35757049 - ERMAP Q96PL5 VAR_025479 p.His26Tyr Polymorphism rs33953680 - ERMAP Q96PL5 VAR_025480 p.Gly35Ser Polymorphism - - ERMAP Q96PL5 VAR_025481 p.Glu47Lys Polymorphism rs56047316 - ERMAP Q96PL5 VAR_025482 p.Gly57Arg Polymorphism rs56025238 - ERMAP Q96PL5 VAR_025483 p.Pro60Ala Polymorphism rs56136737 - ERMAP Q96PL5 VAR_025484 p.Arg81Gln Polymorphism - - ERMAP Q96PL5 VAR_025487 p.Cys259Arg Polymorphism rs35147822 - ERMAP Q96PL5 VAR_025488 p.Gly263Glu Polymorphism rs34441268 - ERMP1 Q7Z2K6 VAR_028945 p.Ser44Asn Polymorphism rs13284203 - ERN1 O75460 VAR_040488 p.Asn244Ser Unclassified - A renal clear cell carcinoma sample ERN1 O75460 VAR_040489 p.Val418Met Polymorphism rs55869215 - ERN1 O75460 VAR_040490 p.Leu474Arg Unclassified - A lung adenocarcinoma sample ERN1 O75460 VAR_040491 p.Arg635Trp Unclassified - A gastric adenocarcinoma sample ERN1 O75460 VAR_040492 p.Asn700Ser Polymorphism - - ERN1 O75460 VAR_040493 p.Ser769Phe Unclassified - A glioblastoma multiforme sample ERN1 O75460 VAR_040494 p.Pro830Leu Unclassified - An ovarian serous carcinoma sample ERN2 Q76MJ5 VAR_040495 p.Val69Ile Polymorphism - - ERN2 Q76MJ5 VAR_040496 p.Arg118Cys Polymorphism - - ERN2 Q76MJ5 VAR_040497 p.Arg184Cys Polymorphism - - ERN2 Q76MJ5 VAR_040498 p.Arg271Gln Polymorphism - - ERN2 Q76MJ5 VAR_040499 p.Ala318Thr Polymorphism - - ERN2 Q76MJ5 VAR_040500 p.Leu410Phe Polymorphism - - ERN2 Q76MJ5 VAR_040501 p.Ser487Thr Polymorphism - - ERN2 Q76MJ5 VAR_040502 p.Leu504Phe Polymorphism - - ERN2 Q76MJ5 VAR_040503 p.Arg537Gln Polymorphism rs56176960 - ERN2 Q76MJ5 VAR_040504 p.His858Tyr Polymorphism - - ERO1LB Q86YB8 VAR_019492 p.His465Gln Polymorphism rs1055851 - ERO1LB Q86YB8 VAR_028012 p.Asp129Val Polymorphism rs2477599 - ERP27 Q96DN0 VAR_052582 p.Phe52Leu Polymorphism rs35030722 - ERRFI1 Q9UJM3 VAR_050975 p.Ile158Leu Polymorphism rs34974993 - ERRFI1 Q9UJM3 VAR_063039 p.Asp109Asn Polymorphism rs34781518 - ERV3-1 Q14264 VAR_017801 p.Thr90Ile Polymorphism rs6460219 - ERV3-1 Q14264 VAR_017802 p.Cys192Tyr Polymorphism rs34639489 - ERV3-1 Q14264 VAR_017803 p.Tyr236Cys Polymorphism - - ERV3-1 Q14264 VAR_017804 p.Asn481Ser Polymorphism rs4618579 - ERV3-1 Q14264 VAR_017805 p.Leu522Pro Polymorphism - - ERV3-1 Q14264 VAR_017806 p.Asn569Ser Polymorphism rs4717229 - ERVW-1 Q9UQF0 VAR_018638 p.Val129Ala Polymorphism - - ERVW-1 Q9UQF0 VAR_018639 p.Arg138Gln Polymorphism rs55903518 - ERVW-1 Q9UQF0 VAR_018640 p.Ser307Asn Polymorphism rs10266695 - ERVW-1 Q9UQF0 VAR_018641 p.Ser477Phe Polymorphism - - ESAM Q96AP7 VAR_049872 p.Arg273Cys Polymorphism rs12792040 - ESCO1 Q5FWF5 VAR_022648 p.Thr221Met Polymorphism rs13381941 - ESCO1 Q5FWF5 VAR_048167 p.Asn191Ser Polymorphism rs35087820 - ESCO2 Q56NI9 VAR_022649 p.Trp539Gly Disease - Roberts syndrome (RBS) [MIM:268300] ESCO2 Q56NI9 VAR_033840 p.Ala80Val Polymorphism rs4732748 - ESCO2 Q56NI9 VAR_060994 p.Gln359Pro Polymorphism rs57479434 - ESD P10768 VAR_005202 p.Gly190Glu Polymorphism rs9778 - ESD P10768 VAR_022275 p.Gly257Asp Polymorphism rs15303 - ESF1 Q9H501 VAR_024331 p.Ile550Thr Polymorphism rs3180370 - ESF1 Q9H501 VAR_053082 p.Pro386Leu Polymorphism rs6079171 - ESF1 Q9H501 VAR_053083 p.Ile824Leu Polymorphism rs34414644 - ESPL1 Q14674 VAR_057703 p.Ser614Arg Polymorphism rs1318648 - ESPL1 Q14674 VAR_057704 p.Arg699Gln Polymorphism rs34424268 - ESPL1 Q14674 VAR_057705 p.Ile1136Val Polymorphism rs34130634 - ESPL1 Q14674 VAR_057706 p.Thr1157Ala Polymorphism rs35428211 - ESPL1 Q14674 VAR_057707 p.Gln1237His Polymorphism rs34396464 - ESPL1 Q14674 VAR_057708 p.Lys1435Met Polymorphism rs1110719 - ESPN B1AK53 VAR_043451 p.Arg322His Polymorphism rs3817911 - ESPN B1AK53 VAR_043452 p.Tyr323Cys Polymorphism rs3817910 - ESPN B1AK53 VAR_043453 p.Ser719Arg Disease - Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006] ESPN B1AK53 VAR_043454 p.Asp744Asn Disease - Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006] ESPN B1AK53 VAR_043455 p.Arg774Gln Disease - Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006] ESPNL Q6ZVH7 VAR_037535 p.Arg167Gln Polymorphism rs34046909 - ESPNL Q6ZVH7 VAR_037536 p.Ile568Val Polymorphism rs13033248 - ESPNL Q6ZVH7 VAR_037537 p.Ala574Ser Polymorphism rs13006204 - ESPNL Q6ZVH7 VAR_037538 p.Val761Ala Polymorphism rs4663845 - ESPNL Q6ZVH7 VAR_037539 p.Gln829Arg Polymorphism rs10172220 - ESR1 P03372 VAR_004671 p.Gly160Cys Polymorphism - - ESR1 P03372 VAR_004672 p.Val364Glu Unclassified - - ESR1 P03372 VAR_004673 p.Gly400Val Unclassified - - ESR1 P03372 VAR_018905 p.Gly77Ser Polymorphism rs9340773 - ESR1 P03372 VAR_033028 p.His6Tyr Unclassified - A breast cancer sample ESR1 P03372 VAR_033029 p.Met264Ile Unclassified - A breast cancer sample ESRP1 Q6NXG1 VAR_030073 p.Tyr196Cys Polymorphism rs2303454 - ESRP2 Q9H6T0 VAR_030074 p.Ser111Leu Polymorphism rs12597504 - ESRP2 Q9H6T0 VAR_030075 p.Ala528Val Polymorphism rs3743738 - ESRP2 Q9H6T0 VAR_057245 p.Pro627Ser Polymorphism rs36054935 - ESRRB O95718 VAR_043503 p.Ala110Val Disease - Deafness autosomal recessive type 35 (DFNB35) [MIM:608565] ESRRB O95718 VAR_043504 p.Leu320Pro Disease - Deafness autosomal recessive type 35 (DFNB35) [MIM:608565] ESRRB O95718 VAR_043505 p.Val342Leu Disease - Deafness autosomal recessive type 35 (DFNB35) [MIM:608565] ESRRB O95718 VAR_043506 p.Leu347Pro Disease - Deafness autosomal recessive type 35 (DFNB35) [MIM:608565] ESRRB O95718 VAR_043507 p.Pro386Ser Polymorphism - - ESRRB O95718 VAR_043508 p.Thr389Met Unclassified - - ESRRG P62508 VAR_019229 p.Thr50Met Polymorphism rs11572693 - ESX1 Q8N693 VAR_059352 p.Thr314Pro Polymorphism rs9697856 - ESYT1 Q9BSJ8 VAR_038190 p.Arg764Cys Polymorphism rs35075600 - ESYT2 A0FGR8 VAR_030725 p.Cys210Ser Polymorphism rs13233513 - ESYT2 A0FGR8 VAR_030726 p.Ser638Gly Polymorphism rs2305473 - ESYT3 A0FGR9 VAR_038117 p.Pro246Gln Polymorphism rs17857138 - ESYT3 A0FGR9 VAR_038118 p.Gly416Arg Polymorphism rs6772467 - ESYT3 A0FGR9 VAR_053835 p.Gly590Arg Polymorphism rs10935282 - ESYT3 A0FGR9 VAR_062173 p.Thr662Ser Polymorphism rs35537868 - ETAA1 Q9NY74 VAR_031053 p.Met221Thr Polymorphism rs13036061 - ETAA1 Q9NY74 VAR_031054 p.Ser389Asn Polymorphism rs3770657 - ETAA1 Q9NY74 VAR_031055 p.Pro715Leu Polymorphism rs3770656 - ETAA1 Q9NY74 VAR_031056 p.Pro771Ser Polymorphism rs3770655 - ETAA1 Q9NY74 VAR_035916 p.Glu50Asp Unclassified - A colorectal cancer sample ETFA P13804 VAR_002366 p.Gly116Arg Disease - Glutaric aciduria type 2A (GA2A) [MIM:231680] ETFA P13804 VAR_002367 p.Val157Gly Disease - Glutaric aciduria type 2A (GA2A) [MIM:231680] ETFA P13804 VAR_002368 p.Thr266Met Disease - Glutaric aciduria type 2A (GA2A) [MIM:231680] ETFA P13804 VAR_008547 p.Thr171Ile Polymorphism rs1801591 - ETFB P38117 VAR_002369 p.Arg164Gln Disease - Glutaric aciduria type 2B (GA2B) [MIM:231680] ETFB P38117 VAR_008548 p.Thr154Met Polymorphism rs1130426 - ETFB P38117 VAR_025804 p.Asp128Asn Disease - Glutaric aciduria type 2B (GA2B) [MIM:231680] ETFDH Q16134 VAR_036134 p.Val565Leu Unclassified - A colorectal cancer sample ETFDH Q16134 VAR_055711 p.His94Arg Polymorphism rs1140065 - ETFDH Q16134 VAR_062966 p.Thr31Ile Polymorphism rs11559290 - ETHE1 O95571 VAR_023395 p.Tyr38Cys Disease - Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_023396 p.Thr136Ala Disease - Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_023397 p.Arg163Trp Disease rs28940289 Ethylmalonic encephalopathy (EE) [MIM:602473] ETHE1 O95571 VAR_023398 p.Leu185Arg Disease - Ethylmalonic encephalopathy (EE) [MIM:602473] ETNK2 Q9NVF9 VAR_022145 p.Arg227Gln Polymorphism rs3737657 - ETV1 P50549 VAR_048948 p.Ser100Gly Polymorphism rs9639168 - ETV3L Q6ZN32 VAR_039928 p.Ser19Ala Polymorphism rs16838078 - ETV3L Q6ZN32 VAR_039929 p.Gly263Ala Polymorphism rs12136960 - ETV3L Q6ZN32 VAR_039930 p.Met318Val Polymorphism rs12126791 - ETV3L Q6ZN32 VAR_048949 p.Arg151Trp Polymorphism rs12083811 - ETV4 P43268 VAR_048950 p.Arg437Cys Polymorphism rs34260468 - ETV5 P41161 VAR_048951 p.Lys348Arg Polymorphism rs2228269 - ETV7 Q9Y603 VAR_020314 p.Pro212Leu Polymorphism rs2234079 - ETV7 Q9Y603 VAR_048952 p.His138Tyr Polymorphism rs9470262 - ETV7 Q9Y603 VAR_048953 p.Gly199Ser Polymorphism rs34306145 - ETV7 Q9Y603 VAR_048954 p.Ala250Val Polymorphism rs2234080 - ETV7 Q9Y603 VAR_059257 p.Ala86Thr Polymorphism rs9394345 - EURL Q9NYK6 VAR_011631 p.Gln117Arg Polymorphism rs1047976 - EURL Q9NYK6 VAR_011632 p.Asp136Glu Polymorphism rs1047978 - EURL Q9NYK6 VAR_054506 p.Asn115Lys Polymorphism rs2824495 - EURL Q9NYK6 VAR_054507 p.Gln195His Polymorphism rs8128004 - EURL Q9NYK6 VAR_054508 p.Tyr217His Polymorphism rs2824494 - EVA1A Q9H8M9 VAR_054077 p.Arg150His Polymorphism rs11126472 - EVC2 Q86UK5 VAR_017209 p.Ile283Arg Disease - Ellis-van Creveld syndrome (EVC) [MIM:225500] EVC2 Q86UK5 VAR_017210 p.Thr699Ala Polymorphism rs730469 - EVC2 Q86UK5 VAR_017211 p.Arg950Trp Disease - Ellis-van Creveld syndrome (EVC) [MIM:225500] EVC2 Q86UK5 VAR_035933 p.Ala630Ser Unclassified - A colorectal cancer sample EVC2 Q86UK5 VAR_035934 p.Leu994Val Unclassified - A colorectal cancer sample EVC2 Q86UK5 VAR_051089 p.Ser230Gly Polymorphism rs4689278 - EVC P57679 VAR_009942 p.Gln74Pro Polymorphism rs2291157 - EVC P57679 VAR_009943 p.Tyr258His Polymorphism rs6414624 - EVC P57679 VAR_009944 p.Ser307Pro Disease - Acrofacial dysostosis Weyers type (WAD) [MIM:193530] EVC P57679 VAR_009945 p.Gly403Ser Polymorphism - - EVC P57679 VAR_009946 p.Arg443Gln Disease rs35953626 Ellis-van Creveld syndrome (EVC) [MIM:225500] EVC P57679 VAR_009947 p.Thr449Lys Polymorphism rs2302075 - EVC P57679 VAR_009948 p.Arg576Gln Polymorphism rs1383180 - EVC P57679 VAR_009949 p.Arg760Gln Polymorphism rs2279252 - EVC P57679 VAR_009950 p.Asp953Gly Polymorphism - - EVC P57679 VAR_033852 p.Ala114Val Polymorphism rs16837598 - EVC P57679 VAR_033853 p.Thr372Met Polymorphism rs28483498 - EVI2B P34910 VAR_056871 p.Gly53Arg Polymorphism rs9903564 - EVI5 O60447 VAR_028890 p.Ile336Val Polymorphism rs2391199 - EVI5 O60447 VAR_028891 p.Gln612His Polymorphism rs11808092 - EVI5 O60447 VAR_047753 p.Asp82Val Polymorphism rs1064580 - EVL Q9UI08 VAR_036464 p.Pro188Leu Unclassified - A colorectal cancer sample EVL Q9UI08 VAR_036465 p.Pro247Leu Unclassified - A colorectal cancer sample EVPLL A8MZ36 VAR_063399 p.Ser4Asn Polymorphism rs570145 - EVPL Q92817 VAR_024579 p.Asn49Ser Polymorphism rs570145 - EVPL Q92817 VAR_033863 p.Gln433Arg Polymorphism rs2071192 - EVPL Q92817 VAR_057698 p.Tyr168Cys Polymorphism rs10445216 - EVPL Q92817 VAR_057699 p.Pro1814Ser Polymorphism rs7342883 - EXD1 Q8NHP7 VAR_043676 p.Thr489Ala Polymorphism rs522063 - EXD2 Q9NVH0 VAR_050980 p.Asp231Asn Polymorphism rs35010854 - EXD2 Q9NVH0 VAR_050981 p.Gln518His Polymorphism rs8007859 - EXD3 Q8N9H8 VAR_038945 p.Arg220Gln Polymorphism rs7389423 - EXD3 Q8N9H8 VAR_062225 p.Arg20Gln Polymorphism rs13291830 - EXO1 Q9UQ84 VAR_024966 p.Val27Ala Polymorphism - - EXO1 Q9UQ84 VAR_024967 p.Val76Ile Polymorphism rs4149864 - EXO1 Q9UQ84 VAR_024968 p.Arg93Gly Polymorphism rs4149865 - EXO1 Q9UQ84 VAR_024969 p.Glu109Lys Unclassified - - EXO1 Q9UQ84 VAR_024970 p.Ala137Ser Polymorphism - - EXO1 Q9UQ84 VAR_024971 p.Asn279Ser Polymorphism rs4149909 - EXO1 Q9UQ84 VAR_024972 p.Asn299Ser Polymorphism rs4149910 - EXO1 Q9UQ84 VAR_024973 p.His354Arg Polymorphism rs735943 - EXO1 Q9UQ84 VAR_024974 p.Leu410Arg Unclassified - - EXO1 Q9UQ84 VAR_024975 p.Asp428Asn Polymorphism rs4149962 - EXO1 Q9UQ84 VAR_024976 p.Phe438Cys Polymorphism - - EXO1 Q9UQ84 VAR_024977 p.Thr439Met Polymorphism rs4149963 - EXO1 Q9UQ84 VAR_024978 p.Ser456Tyr Polymorphism rs4149964 - EXO1 Q9UQ84 VAR_024979 p.Val458Met Polymorphism rs4149965 - EXO1 Q9UQ84 VAR_024980 p.Val460Leu Polymorphism rs4149966 - EXO1 Q9UQ84 VAR_024981 p.Arg503Thr Polymorphism rs4149967 - EXO1 Q9UQ84 VAR_024982 p.Glu589Lys Polymorphism rs1047840 - EXO1 Q9UQ84 VAR_024983 p.Ser610Gly Polymorphism rs12122770 - EXO1 Q9UQ84 VAR_024984 p.Arg634Gln Polymorphism rs4149978 - EXO1 Q9UQ84 VAR_024985 p.Pro640Ala Polymorphism - - EXO1 Q9UQ84 VAR_024986 p.Pro640Ser Unclassified - - EXO1 Q9UQ84 VAR_024987 p.Glu670Gly Polymorphism rs1776148 - EXO1 Q9UQ84 VAR_024988 p.Arg723Cys Polymorphism rs1635498 - EXO1 Q9UQ84 VAR_024989 p.His726Pro Polymorphism - - EXO1 Q9UQ84 VAR_024990 p.Pro757Leu Polymorphism rs9350 - EXO1 Q9UQ84 VAR_024991 p.Gly759Glu Polymorphism rs4150001 - EXO1 Q9UQ84 VAR_024992 p.Pro770Leu Unclassified - - EXO1 Q9UQ84 VAR_024993 p.Ala827Val Polymorphism - - EXO5 Q9H790 VAR_035407 p.Asp115Asn Polymorphism rs1134586 - EXO5 Q9H790 VAR_035408 p.Gly172Val Polymorphism rs11208299 - EXOC2 Q96KP1 VAR_048956 p.Asn195Thr Polymorphism rs35600069 - EXOC3L1 Q86VI1 VAR_036959 p.Gln561Glu Polymorphism rs9939768 - EXOC3L1 Q86VI1 VAR_036960 p.Ser634Gly Polymorphism rs16957212 - EXOC3L1 Q86VI1 VAR_037002 p.Tyr75Asn Unclassified - A breast cancer sample EXOC3L1 Q86VI1 VAR_037003 p.Ala514Asp Unclassified - A breast cancer sample EXOC3L2 Q2M3D2 VAR_036961 p.Asn173Asp Polymorphism rs10411314 - EXOC3L4 Q17RC7 VAR_030273 p.Arg77Trp Polymorphism rs2297067 - EXOC3L4 Q17RC7 VAR_030274 p.Asp93Glu Polymorphism rs2297066 - EXOC3L4 Q17RC7 VAR_030275 p.Leu185His Polymorphism rs10131298 - EXOC3L4 Q17RC7 VAR_030276 p.Gln675Arg Polymorphism rs729184 - EXOC3L4 Q17RC7 VAR_062863 p.Gln685Glu Polymorphism rs744153 - EXOC4 Q96A65 VAR_036292 p.Ser220Phe Unclassified - A colorectal cancer sample EXOC4 Q96A65 VAR_036293 p.Ala599Thr Unclassified - A colorectal cancer sample EXOC5 O00471 VAR_048957 p.Glu10Asp Polymorphism rs35132458 - EXOC6 Q8TAG9 VAR_044522 p.Thr396Ile Polymorphism rs1326331 - EXOC6 Q8TAG9 VAR_044523 p.Leu523Val Polymorphism rs11187225 - EXOC6 Q8TAG9 VAR_044524 p.Thr578Ile Polymorphism rs35647717 - EXOG Q9Y2C4 VAR_044320 p.Gly277Val Polymorphism rs1141223 - EXOSC3 Q9NQT5 VAR_054098 p.Tyr225His Polymorphism rs3208406 - EXOSC5 Q9NQT4 VAR_030788 p.Thr5Met Polymorphism rs10853751 - EXOSC5 Q9NQT4 VAR_051868 p.Cys33Trp Polymorphism rs34500671 - EXOSC7 Q15024 VAR_014923 p.Val274Leu Polymorphism rs6794 - EXOSC7 Q15024 VAR_032765 p.Arg169Gln Polymorphism rs34512144 - EXOSC9 Q06265 VAR_014924 p.Ser425Thr Polymorphism rs1051881 - EXOSC9 Q06265 VAR_051867 p.Ile366Val Polymorphism rs1803183 - EXPH5 Q8NEV8 VAR_030538 p.Arg19Gly Polymorphism rs2640738 - EXPH5 Q8NEV8 VAR_030539 p.Arg118Leu Polymorphism rs3741046 - EXPH5 Q8NEV8 VAR_030540 p.Glu137Val Polymorphism rs2640785 - EXPH5 Q8NEV8 VAR_030541 p.Arg328Gln Polymorphism rs11212684 - EXPH5 Q8NEV8 VAR_030542 p.Met512Leu Polymorphism rs17108127 - EXPH5 Q8NEV8 VAR_030543 p.Val525Phe Polymorphism rs12146448 - EXPH5 Q8NEV8 VAR_030544 p.Ser676Asn Polymorphism rs2846412 - EXPH5 Q8NEV8 VAR_030545 p.Asp777Asn Polymorphism rs3741048 - EXPH5 Q8NEV8 VAR_030546 p.Leu853Pro Polymorphism rs10749920 - EXPH5 Q8NEV8 VAR_030547 p.Asn892Tyr Polymorphism rs10890850 - EXPH5 Q8NEV8 VAR_030548 p.Val899Ala Polymorphism rs17108112 - EXPH5 Q8NEV8 VAR_030549 p.Asp1240Asn Polymorphism rs11828459 - EXPH5 Q8NEV8 VAR_030550 p.Cys1311Arg Polymorphism rs877474 - EXPH5 Q8NEV8 VAR_030551 p.Gly1663Arg Polymorphism rs2640779 - EXPH5 Q8NEV8 VAR_030552 p.Asn1967Asp Polymorphism rs1943382 - EXPH5 Q8NEV8 VAR_057117 p.Met1147Ile Polymorphism rs34012545 - EXPH5 Q8NEV8 VAR_057118 p.Ser1236Ala Polymorphism rs35520914 - EXPH5 Q8NEV8 VAR_057119 p.Thr1343Ala Polymorphism rs34978242 - EXPH5 Q8NEV8 VAR_057120 p.Glu1656Lys Polymorphism rs35083468 - EXPH5 Q8NEV8 VAR_057121 p.Ile1735Phe Polymorphism rs35717245 - EXT1 Q16394 VAR_002370 p.Arg280Gly Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002371 p.Arg280Ser Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002372 p.Gly339Asp Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002373 p.Arg340Cys Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002374 p.Arg340His Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002375 p.Arg340Leu Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_002376 p.Arg340Ser Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_012815 p.Gln27Lys Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_012816 p.Asp164His Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_012820 p.Asn316Ser Disease - Chondrosarcoma (CHDSA) [MIM:215300] EXT1 Q16394 VAR_012821 p.Ala486Val Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT1 Q16394 VAR_012822 p.Pro496Leu Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] EXT2 Q93063 VAR_002378 p.Asp227Asn Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012823 p.Cys85Arg Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012824 p.Leu152Arg Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012825 p.Arg179Ser Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012826 p.Ala202Val Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012827 p.Arg223Pro Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012828 p.Ile380Thr Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] EXT2 Q93063 VAR_012829 p.Glu576Lys Unclassified - - EXT2 Q93063 VAR_033921 p.Met42Val Polymorphism rs4755779 - EXTL1 Q92935 VAR_012830 p.His379Asn Polymorphism rs2736831 - EXTL1 Q92935 VAR_049228 p.Arg163His Polymorphism rs34277678 - EXTL3 O43909 VAR_049229 p.Leu706Pro Polymorphism rs2269452 - EXTL3 O43909 VAR_061194 p.Ala550Val Polymorphism rs35781576 - EYA1 Q99502 VAR_005203 p.Ser487Pro Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_005204 p.Leu505Arg Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_016864 p.Glu363Lys Disease - Anterior segment anomalies with or without cataract (ASA) [MIM:602588] EYA1 Q99502 VAR_016865 p.Gly426Ser Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_016866 p.Asp429Gly Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_016867 p.Arg440Gln Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_016868 p.Arg547Gly Disease - Anterior segment anomalies with or without cataract (ASA) [MIM:602588] EYA1 Q99502 VAR_016869 p.Leu583Pro Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_024439 p.Pro20Ala Polymorphism rs1445404 - EYA1 Q99502 VAR_044452 p.Ser242Gly Disease - Branchiootic syndrome type 1 (BOS1) [MIM:602588] EYA1 Q99502 VAR_064942 p.Pro95Ser Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064943 p.Gly140Ser Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064944 p.Glu363Val Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064945 p.Leu514Pro Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064946 p.Tyr527Cys Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA1 Q99502 VAR_064947 p.Met569Thr Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] EYA2 O00167 VAR_048964 p.Pro83Ser Polymorphism rs2275596 - EYA2 O00167 VAR_048965 p.Thr238Ala Polymorphism rs866936 - EYA4 O95677 VAR_022932 p.Gly277Ser Polymorphism rs9493627 - EYA4 O95677 VAR_036248 p.Leu152Arg Unclassified - A colorectal cancer sample EYA4 O95677 VAR_036249 p.Asp301Asn Unclassified - A colorectal cancer sample EYS Q5T1H1 VAR_035301 p.Thr120Met Polymorphism rs12193967 - EYS Q5T1H1 VAR_043561 p.Leu852Pro Polymorphism rs9294631 - EYS Q5T1H1 VAR_063437 p.Pro94Gln Polymorphism - - EYS Q5T1H1 VAR_063438 p.Val112Ile Polymorphism - - EYS Q5T1H1 VAR_063439 p.Thr135Leu Unclassified - - EYS Q5T1H1 VAR_063440 p.Val136Phe Polymorphism - - EYS Q5T1H1 VAR_063441 p.Ser326Asn Polymorphism - - EYS Q5T1H1 VAR_063442 p.Lys532Asn Polymorphism - - EYS Q5T1H1 VAR_063443 p.Arg551Leu Polymorphism - - EYS Q5T1H1 VAR_063444 p.Gln571Arg Polymorphism - - EYS Q5T1H1 VAR_063445 p.Gly618Ser Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063446 p.Gly631Ser Polymorphism - - EYS Q5T1H1 VAR_063447 p.Glu641Val Polymorphism - - EYS Q5T1H1 VAR_063448 p.Asn745Ser Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063449 p.Val834Ile Polymorphism - - EYS Q5T1H1 VAR_063450 p.Lys938Arg Polymorphism - - EYS Q5T1H1 VAR_063451 p.Thr1110Ser Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063452 p.Asn1163Lys Polymorphism - - EYS Q5T1H1 VAR_063453 p.Cys1176Arg Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063454 p.Ile1232Phe Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063455 p.Ile1263Val Polymorphism - - EYS Q5T1H1 VAR_063456 p.Gln1325Glu Polymorphism - - EYS Q5T1H1 VAR_063457 p.Ile1361Val Polymorphism - - EYS Q5T1H1 VAR_063458 p.Lys1365Glu Polymorphism - - EYS Q5T1H1 VAR_063459 p.Leu1419Ser Polymorphism - - EYS Q5T1H1 VAR_063460 p.Ile1451Thr Polymorphism - - EYS Q5T1H1 VAR_063461 p.Arg1515Trp Polymorphism - - EYS Q5T1H1 VAR_063462 p.Ser1517Gly Polymorphism - - EYS Q5T1H1 VAR_063463 p.Asp1662Val Polymorphism - - EYS Q5T1H1 VAR_063464 p.Thr1664Ile Polymorphism - - EYS Q5T1H1 VAR_063465 p.Asp1682Tyr Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063466 p.Pro1739Leu Polymorphism - - EYS Q5T1H1 VAR_063467 p.Glu1747Gly Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063468 p.Leu1748Phe Polymorphism - - EYS Q5T1H1 VAR_063469 p.Trp1837Ser Polymorphism - - EYS Q5T1H1 VAR_063470 p.Leu1869Met Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063471 p.Leu1873Val Polymorphism - - EYS Q5T1H1 VAR_063472 p.Asn1902Ile Polymorphism - - EYS Q5T1H1 VAR_063473 p.Ser1915Gly Polymorphism - - EYS Q5T1H1 VAR_063474 p.Thr1987Pro Polymorphism - - EYS Q5T1H1 VAR_063475 p.Thr1993Ala Polymorphism - - EYS Q5T1H1 VAR_063476 p.Ile1999Val Polymorphism - - EYS Q5T1H1 VAR_063477 p.Val2040Asp Polymorphism - - EYS Q5T1H1 VAR_063478 p.Cys2139Tyr Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063479 p.Asn2151Ser Polymorphism - - EYS Q5T1H1 VAR_063480 p.Leu2189Pro Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063481 p.Ser2211Leu Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063482 p.Arg2326Gln Polymorphism - - EYS Q5T1H1 VAR_063483 p.Ser2556Cys Polymorphism - - EYS Q5T1H1 VAR_063484 p.His2599Arg Polymorphism - - EYS Q5T1H1 VAR_063485 p.Ala2757Pro Polymorphism - - EYS Q5T1H1 VAR_063486 p.Ala2829Thr Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063487 p.Thr2831Ile Polymorphism - - EYS Q5T1H1 VAR_063488 p.Cys2911Tyr Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_063489 p.Gly2928Glu Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_064417 p.Trp1484Arg Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_064418 p.Gly2017Val Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_064419 p.Glu2503Lys Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EYS Q5T1H1 VAR_064420 p.Gln2945Glu Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772] EZH2 Q15910 VAR_055795 p.Asp185His Polymorphism rs2302427 - EZR P15311 VAR_015112 p.Leu532Val Polymorphism - - EZR P15311 VAR_030572 p.Arg180Cys Polymorphism rs3103004 - EZR P15311 VAR_030573 p.Ala494Pro Polymorphism rs2230143 - F10 P00742 VAR_014162 p.Leu7Ile Polymorphism rs5963 - F10 P00742 VAR_014163 p.Gln30His Polymorphism rs5961 - F10 P00742 VAR_020176 p.Ala152Thr Polymorphism rs3211772 - F10 P00742 VAR_020177 p.Gly192Arg Polymorphism rs3211783 - F10 P00742 VAR_065428 p.Glu47Gly Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065429 p.Gly51Val Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065430 p.Glu54Gly Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065431 p.Glu54Lys Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065432 p.Glu72Gln Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065433 p.Glu91Lys Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065434 p.Glu142Lys Unclassified - - F10 P00742 VAR_065435 p.Cys149Tyr Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065436 p.Cys151Tyr Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065437 p.Gly289Arg Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065438 p.Glu304Lys Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065439 p.Asp322Asn Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065440 p.Arg327Trp Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065441 p.Val338Met Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065442 p.Glu350Lys Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065443 p.Thr358Met Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065444 p.Gly363Ser Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065445 p.Arg366Cys Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065446 p.Ser374Pro Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065447 p.Pro383Ser Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065448 p.Cys390Phe Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065449 p.Cys404Arg Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065450 p.Gly406Ser Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065451 p.Gly420Arg Disease - Factor X deficiency (FA10D) [MIM:227600] F10 P00742 VAR_065452 p.Lys448Asn Disease - Factor X deficiency (FA10D) [MIM:227600] F11 P03951 VAR_006622 p.Phe301Leu Disease rs121965064 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_011774 p.Pro66Leu Polymorphism rs5968 - F11 P03951 VAR_011775 p.Gln244Arg Polymorphism rs5969 - F11 P03951 VAR_011776 p.Ile308Phe Polymorphism rs5972 - F11 P03951 VAR_011777 p.Cys339Phe Polymorphism rs5967 - F11 P03951 VAR_011778 p.Trp399Arg Polymorphism rs1800439 - F11 P03951 VAR_012085 p.Asp34His Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012086 p.Trp246Cys Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012087 p.Ser266Asn Disease rs145168351 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012088 p.Leu320Pro Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012089 p.Thr322Ile Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012090 p.Arg326Cys Disease rs28934608 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012091 p.Glu341Lys Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012092 p.Thr404Asn Disease rs121965067 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012093 p.Ala430Val Disease rs121965068 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012094 p.Phe460Val Disease rs121965065 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012095 p.Thr493Ile Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_012096 p.Ser594Arg Disease rs28934609 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054894 p.Cys46Phe Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054895 p.Cys56Arg Disease rs121965069 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054896 p.Lys101Arg Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054897 p.Tyr151Cys Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054898 p.Cys255Tyr Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054899 p.Gly263Glu Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054900 p.Lys270Ile Disease rs121965070 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054901 p.Gly418Val Disease rs121965071 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054902 p.Tyr511His Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054903 p.Pro538Leu Disease rs139695003 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054904 p.Glu565Lys Disease - Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054905 p.Trp587Ser Disease rs121965072 Factor XI deficiency (FA11D) [MIM:612416] F11 P03951 VAR_054906 p.Ile618Ser Disease - Factor XI deficiency (FA11D) [MIM:612416] F12 P00748 VAR_006623 p.Arg372Pro Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_006624 p.Cys590Ser Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_014336 p.Ala207Pro Polymorphism rs17876030 - F12 P00748 VAR_014337 p.Gly545Asp Polymorphism rs17876034 - F12 P00748 VAR_014338 p.Tyr605His Polymorphism rs17876035 - F12 P00748 VAR_014426 p.Tyr53Cys Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_029191 p.Pro342Gln Polymorphism rs2230939 - F12 P00748 VAR_031500 p.Arg142Pro Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031501 p.Thr328Lys Disease - Hereditary angioedema type 3 (HAE3) [MIM:610618] F12 P00748 VAR_031502 p.Thr328Arg Disease - Hereditary angioedema type 3 (HAE3) [MIM:610618] F12 P00748 VAR_031503 p.Ala411Thr Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031504 p.Leu414Met Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031505 p.Arg417Gln Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031506 p.Gln440Lys Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031507 p.Asp461Asn Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031508 p.Trp505Cys Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_031509 p.Gly589Arg Disease - Factor XII deficiency (FA12D) [MIM:234000] F12 P00748 VAR_033649 p.Ala340Gly Polymorphism rs2230938 - F13A1 P00488 VAR_007471 p.Pro565Leu Polymorphism rs5982 - F13A1 P00488 VAR_007472 p.Val651Ile Polymorphism rs5987 - F13A1 P00488 VAR_007473 p.Gln652Glu Polymorphism rs5988 - F13A1 P00488 VAR_007474 p.Arg682His Disease - Factor XIII subunit A deficiency (FA13AD) [MIM:613225] F13A1 P00488 VAR_013927 p.Val35Leu Polymorphism rs5985 - F13A1 P00488 VAR_013928 p.Thr551Ile Polymorphism rs5984 - F13A1 P00488 VAR_013929 p.Leu589Gln Polymorphism rs5983 - F13A1 P00488 VAR_020910 p.Val40Ile Polymorphism - - F13A1 P00488 VAR_020911 p.Tyr205Phe Polymorphism rs3024477 - F13A1 P00488 VAR_057350 p.Met351Lys Polymorphism rs2230848 - F13A1 P00488 VAR_060545 p.Thr650Ile Polymorphism rs17852475 - F13B P05160 VAR_007475 p.Cys450Phe Disease - Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F13B P05160 VAR_013930 p.Met49Val Polymorphism rs6002 - F13B P05160 VAR_013931 p.Arg115His Polymorphism rs6003 - F13B P05160 VAR_013932 p.His350Arg Polymorphism rs5999 - F13B P05160 VAR_013933 p.Glu388Val Polymorphism rs5991 - F13B P05160 VAR_013934 p.Tyr543Ser Polymorphism rs6001 - F13B P05160 VAR_013935 p.Asp569Glu Polymorphism rs6000 - F13B P05160 VAR_020612 p.Ile342Thr Polymorphism rs17514281 - F13B P05160 VAR_020613 p.Leu529Pro Polymorphism rs17549671 - F2 P00734 VAR_006711 p.Glu200Lys Disease - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006712 p.Arg314Cys Disease - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006713 p.Arg314His Disease - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006714 p.Met380Thr Disease - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006715 p.Arg425Cys Disease - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006716 p.Arg431His Disease - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006717 p.Arg461Trp Disease - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006718 p.Glu509Ala Disease - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_006719 p.Gly601Val Disease - Factor II deficiency (FA2D) [MIM:613679] F2 P00734 VAR_011781 p.Thr165Met Polymorphism rs5896 - F2 P00734 VAR_011782 p.Pro386Thr Polymorphism rs5897 - F2 P00734 VAR_055232 p.Glu72Gly Disease - Factor II deficiency (FA2D) [MIM:613679] F2RL1 P55085 VAR_012846 p.Ser21Phe Polymorphism rs2243072 - F2RL1 P55085 VAR_012847 p.Arg270Gln Polymorphism rs2243062 - F2RL1 P55085 VAR_012848 p.Thr291Ala Polymorphism rs2243083 - F2RL1 P55085 VAR_049435 p.Asn30Ser Polymorphism rs616235 - F2RL2 O00254 VAR_012849 p.Leu15Ser Polymorphism rs2069649 - F2RL2 O00254 VAR_012850 p.Met177Val Polymorphism rs2069700 - F2RL2 O00254 VAR_012851 p.Asn250Asp Polymorphism rs2069683 - F2RL3 Q96RI0 VAR_012852 p.Phe296Val Polymorphism rs2227346 - F2RL3 Q96RI0 VAR_012853 p.Pro310Leu Polymorphism rs2227376 - F2RL3 Q96RI0 VAR_028300 p.Ala120Thr Polymorphism rs773902 - F2RL3 Q96RI0 VAR_028301 p.Arg215Gln Polymorphism rs2230799 - F2R P25116 VAR_014167 p.Ser166Gly Polymorphism rs5893 - F2R P25116 VAR_049432 p.Tyr187Asn Polymorphism rs2230849 - F2R P25116 VAR_049433 p.Val257Leu Polymorphism rs2227832 - F2R P25116 VAR_049434 p.Ser412Tyr Polymorphism rs2227799 - F2R P25116 VAR_060680 p.Ala268Pro Polymorphism rs1055103 - F2R P25116 VAR_060681 p.Ala335Val Polymorphism rs17849599 - F3 P13726 VAR_012008 p.Arg163Trp Polymorphism rs5901 - F3 P13726 VAR_014298 p.Thr36Ala Polymorphism rs3917604 - F3 P13726 VAR_014299 p.Ile145Val Polymorphism rs3917627 - F3 P13726 VAR_052280 p.Gly281Glu Polymorphism rs3789683 - F5 P12259 VAR_001213 p.Arg534Gln Polymorphism rs6025 - F5 P12259 VAR_001214 p.Lys858Arg Polymorphism rs4524 - F5 P12259 VAR_001215 p.His865Arg Polymorphism rs4525 - F5 P12259 VAR_013620 p.Arg334Gly Unclassified - - F5 P12259 VAR_013621 p.Arg334Thr Disease - Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5 P12259 VAR_013622 p.Arg513Lys Polymorphism rs6020 - F5 P12259 VAR_013886 p.Asp107His Polymorphism rs6019 - F5 P12259 VAR_013887 p.Met413Thr Polymorphism rs6033 - F5 P12259 VAR_013888 p.Pro809Ser Polymorphism rs6031 - F5 P12259 VAR_013889 p.Asn817Thr Polymorphism rs6018 - F5 P12259 VAR_013890 p.Lys925Glu Polymorphism rs6032 - F5 P12259 VAR_013891 p.His1146Gln Polymorphism rs6005 - F5 P12259 VAR_013892 p.Leu1285Ile Polymorphism rs1046712 - F5 P12259 VAR_013893 p.His1327Arg Polymorphism rs1800595 - F5 P12259 VAR_013894 p.Glu1530Ala Polymorphism rs6007 - F5 P12259 VAR_013895 p.Thr1685Ser Polymorphism rs6011 - F5 P12259 VAR_013896 p.Leu1749Val Polymorphism rs6034 - F5 P12259 VAR_013897 p.Met1764Val Polymorphism rs6030 - F5 P12259 VAR_013898 p.Met1820Ile Polymorphism rs6026 - F5 P12259 VAR_013899 p.Asp2222Gly Polymorphism rs6027 - F5 P12259 VAR_017329 p.Arg2102His Disease - Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5 P12259 VAR_021297 p.Gly15Ser Polymorphism rs9332485 - F5 P12259 VAR_021298 p.Thr915Ser Polymorphism rs9332695 - F5 P12259 VAR_021299 p.Asn969Ser Polymorphism rs9332604 - F5 P12259 VAR_021300 p.Arg980Leu Polymorphism rs9332605 - F5 P12259 VAR_021301 p.Pro1404Ser Polymorphism rs9332608 - F5 P12259 VAR_021302 p.Met2148Thr Polymorphism rs9332701 - F5 P12259 VAR_032698 p.Ile387Thr Disease - Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5 P12259 VAR_032699 p.Cys613Arg Disease - Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5 P12259 VAR_032700 p.Tyr1730Cys Disease - Factor V deficiency (FA5D) [MIM:227400] F5 P12259 VAR_032701 p.Arg2102Cys Disease - Factor V deficiency (FA5D) [MIM:227400] F5 P12259 VAR_034603 p.Lys2185Arg Polymorphism rs6679078 - F5 P12259 VAR_035817 p.Ser775Ala Unclassified - A colorectal cancer sample F5 P12259 VAR_047740 p.Ser781Arg Polymorphism rs13306350 - F5 P12259 VAR_047741 p.Leu1397Phe Polymorphism rs13306334 - F7 P08709 VAR_006497 p.Arg139Lys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006498 p.Arg139Gln Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006499 p.Arg139Trp Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006500 p.Gly157Ser Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006501 p.Gly157Cys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006502 p.Gln160Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006503 p.Pro194Thr Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006504 p.Lys197Glu Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006505 p.Arg212Gln Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006506 p.Cys238Tyr Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006507 p.Arg283Trp Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006508 p.Ala304Val Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006509 p.Arg307His Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006510 p.Glu325Lys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006511 p.Ala354Val Disease rs36209567 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006512 p.Met358Ile Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006513 p.Met358Val Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006514 p.Arg364Gln Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006515 p.Cys370Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006516 p.Gly402Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006517 p.Gly402Glu Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_006518 p.Arg413Gln Polymorphism rs6046 - F7 P08709 VAR_006519 p.Thr419Met Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_013122 p.Ala352Thr Polymorphism rs3093267 - F7 P08709 VAR_013123 p.Glu445Lys Polymorphism rs3093248 - F7 P08709 VAR_013936 p.Val295Asp Polymorphism rs6045 - F7 P08709 VAR_014391 p.Leu13Pro Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014392 p.Cys389Gly Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014405 p.Leu73Gln Disease rs45572939 Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014406 p.Glu79Gln Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014407 p.Cys121Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014408 p.Leu125Pro Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014409 p.Tyr128Cys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014410 p.Cys151Ser Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014411 p.Gly157Val Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014412 p.Cys195Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014413 p.Thr241Asn Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014414 p.Asp302His Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014415 p.Asp302Asn Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014416 p.Ala304Thr Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014417 p.Arg307Cys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014418 p.Thr332Met Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014419 p.Gly391Ser Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_014420 p.Gly435Glu Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015135 p.Phe64Leu Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015136 p.Ser120Pro Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015137 p.Glu154Lys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015138 p.Gly216Asp Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015139 p.Cys254Tyr Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015140 p.Ala266Thr Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015141 p.Val312Met Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015142 p.Val341Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015143 p.Pro363Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_015144 p.Asp403His Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_018671 p.Thr367Ser Polymorphism - - F7 P08709 VAR_065370 p.Cys82Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065371 p.Cys82Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065373 p.Glu85Lys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065374 p.Arg88Gly Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065375 p.Arg88Pro Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065376 p.Asn117Asp Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065377 p.Gly138Asp Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065378 p.Gly156Ser Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065379 p.Ser171Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065380 p.Gly177Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065381 p.Leu181Pro Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065382 p.Asp183Asn Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065383 p.Ser186Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065384 p.Pro189Ser Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065385 p.Pro194Leu Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065386 p.Ile198Thr Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065387 p.Gly240Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065388 p.Ser250Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065389 p.Ala251Pro Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065390 p.Ala251Thr Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065391 p.Cys254Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065392 p.Leu264Pro Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065393 p.Asp272Asn Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065394 p.Asp277Asn Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065395 p.Thr298Ile Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065396 p.His301Gln Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065397 p.Leu314Val Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065398 p.Leu321Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065399 p.Leu323Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065400 p.Arg326Gln Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065401 p.Arg337Cys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065402 p.Gly343Ser Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065403 p.Trp344Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065404 p.Gly345Ser Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065405 p.Arg350Cys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065406 p.Leu360Pro Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065407 p.Pro363His Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065408 p.Arg364Trp Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065409 p.Arg375Trp Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065410 p.Thr384Met Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065411 p.Met387Thr Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065412 p.Met387Val Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065413 p.Phe388Ser Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065414 p.Gly391Cys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065415 p.Asp398Glu Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065416 p.Lys401Glu Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065417 p.Ser404Asn Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065418 p.His408Gln Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065419 p.His408Arg Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065420 p.Arg413Gly Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065421 p.Gly414Cys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065422 p.Val422Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065423 p.Gly425Ala Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065424 p.Gly425Cys Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065425 p.Ala429Thr Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065426 p.Gly432Asp Disease - Factor VII deficiency (FA7D) [MIM:227500] F7 P08709 VAR_065427 p.Tyr437Phe Disease - Factor VII deficiency (FA7D) [MIM:227500] F8 P00451 VAR_001045 p.Leu26Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001046 p.Glu30Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001047 p.Gly41Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001048 p.Arg48Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001049 p.Asp75Val Polymorphism rs1800288 - F8 P00451 VAR_001050 p.Gly89Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001051 p.Gly89Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001052 p.Val99Asp Disease rs28935205 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001053 p.Val104Asp Disease rs28935206 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001054 p.Lys108Thr Disease rs28935207 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001055 p.Met110Val Disease rs28936083 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001056 p.Leu117Arg Disease rs28935208 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001057 p.Glu129Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001058 p.Gly130Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001059 p.Glu132Asp Disease rs28935209 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001060 p.Tyr133Cys Disease rs28935210 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001061 p.Asp135Gly Disease rs28935211 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001062 p.Thr137Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001063 p.Gly164Val Disease rs28935212 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001064 p.Pro165Ser Disease rs28935213 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001065 p.Val181Met Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001066 p.Lys185Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001067 p.Ser189Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001068 p.Asp222Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001069 p.Gly224Trp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001070 p.Val253Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001071 p.Gly266Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001072 p.Gly278Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001073 p.Val285Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001074 p.Glu291Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001075 p.Thr294Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001076 p.Asn299Ile Disease rs28935215 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001077 p.Arg301His Disease rs28935216 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001078 p.Arg301Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001079 p.Ser308Leu Disease rs28937268 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001080 p.Phe312Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001081 p.Thr314Ala Disease rs28937269 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001082 p.Thr314Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001083 p.Leu327Pro Disease rs28937270 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001084 p.Ile331Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001085 p.Val345Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001086 p.Cys348Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001087 p.Cys348Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001088 p.Cys348Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001089 p.Arg391Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001090 p.Arg391His Disease rs28935499 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001091 p.Arg391Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001092 p.Ser392Leu Disease rs28933668 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001093 p.Ser392Pro Disease rs28933669 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001094 p.Ile405Ser Disease rs28933670 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001095 p.Glu409Gly Disease rs28933671 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001096 p.Leu431Phe Disease rs28933672 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001097 p.Gly439Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001098 p.Lys444Arg Disease rs28937272 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001099 p.Tyr450Asn Disease rs28937273 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001100 p.Gly474Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001101 p.Ala488Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001102 p.Tyr492His Disease rs28937274 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001103 p.Tyr492Cys Disease rs28937275 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001104 p.Ile494Thr Disease rs28936968 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001105 p.Gly498Arg Disease rs28936969 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001106 p.Asp544Asn Disease rs28937276 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001107 p.Arg546Trp Disease rs28937277 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001108 p.Arg550Cys Disease rs28937278 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001109 p.Arg550Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001110 p.Arg550His Disease rs28937279 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001111 p.Ser554Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001112 p.Val556Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001113 p.Ser577Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001114 p.Gln584Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001115 p.Ile585Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001116 p.Ser596Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001117 p.Ser603Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001118 p.Trp604Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001119 p.Tyr605Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001120 p.Arg612Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001121 p.Asn631Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001122 p.Asn631Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001123 p.Leu644Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001124 p.Val653Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001125 p.Val653Met Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001126 p.Ala663Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001128 p.Phe677Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001129 p.Met699Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001130 p.Arg717Trp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001131 p.Gly720Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001132 p.Ala723Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001133 p.Val727Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001134 p.Glu739Lys Disease rs28937285 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001135 p.Glu1057Lys Disease rs28933673 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001136 p.Asp1260Glu Polymorphism rs1800291 - F8 P00451 VAR_001137 p.Leu1481Pro Polymorphism rs1800294 - F8 P00451 VAR_001138 p.Tyr1699Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001139 p.Tyr1699Phe Disease rs28935203 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001140 p.Arg1708Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001141 p.Arg1708His Disease rs28937286 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001142 p.Arg1715Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001143 p.Glu1723Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001144 p.Tyr1728Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001145 p.Gly1769Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001146 p.Leu1775Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001147 p.Leu1775Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001148 p.Gly1779Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001149 p.Met1791Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001150 p.Arg1800His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001151 p.Arg1800Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001152 p.Arg1800Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001153 p.Ser1803Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001154 p.Leu1808Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001155 p.Met1842Ile Disease rs28933674 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001156 p.Pro1844Ser Disease rs28933675 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001157 p.Thr1845Pro Disease rs28933676 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001158 p.Ala1853Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001159 p.Ala1853Val Disease rs28933677 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001160 p.Asp1865Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001161 p.Asp1865Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001162 p.His1867Arg Disease rs28933679 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001163 p.Gly1869Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001164 p.Pro1873Arg Disease rs28933680 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001165 p.Arg1888Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001166 p.Glu1894Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001167 p.Glu1904Lys Disease rs28933681 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001168 p.Asn1941Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001169 p.Asn1941Ser Disease rs28933682 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001170 p.Arg1960Gln Disease rs28937294 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001171 p.Arg1960Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001172 p.Gly1967Asp Disease rs28937295 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001173 p.Gly1979Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001174 p.His1980Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001175 p.Arg2016Trp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001176 p.Asn2038Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001177 p.Trp2065Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001178 p.Ser2088Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001179 p.Asp2093Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001180 p.Thr2105Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001181 p.Gly2107Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001182 p.Phe2120Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001183 p.Tyr2124Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001184 p.Arg2135Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001185 p.Ser2138Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001186 p.Asn2148Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001187 p.Arg2169His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001188 p.Pro2172Gln Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001189 p.Thr2173Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001190 p.Arg2178Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001191 p.Arg2178His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001192 p.Arg2178Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001193 p.Arg2182Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001194 p.Arg2182His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001195 p.Met2183Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001196 p.Leu2185Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001197 p.Ile2204Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001198 p.Ile2209Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001199 p.Ala2211Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001201 p.Arg2228Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001202 p.Arg2228Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001203 p.Arg2228Gln Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001204 p.Val2242Met Polymorphism - - F8 P00451 VAR_001205 p.Trp2248Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001206 p.Gln2265Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001207 p.Pro2319Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001208 p.Pro2319Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001209 p.Arg2323Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001210 p.Arg2323His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001211 p.Arg2326Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_001212 p.Arg2326Gln Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_008123 p.Ser202Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_008967 p.Asp561Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_008968 p.Gly2344Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015127 p.Gly255Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015128 p.Gly323Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015129 p.Met586Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015130 p.Gly1942Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015131 p.Leu1963Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015132 p.Tyr2036Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015133 p.Pro2172Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_015134 p.Asp2307Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017330 p.Glu72Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017331 p.Ala97Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017332 p.Tyr155His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017333 p.Val181Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017334 p.Asn254Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017335 p.Gly439Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017336 p.Lys529Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017337 p.Ile567Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017338 p.Phe1804Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017339 p.Ile2051Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017340 p.Thr2141Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_017341 p.Cys2193Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_021356 p.Met2257Val Polymorphism rs1800297 - F8 P00451 VAR_024380 p.Arg795Gly Polymorphism rs2228152 - F8 P00451 VAR_028447 p.Ser19Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028448 p.Arg22Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028449 p.Tyr24Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028450 p.Tyr25Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028451 p.Leu26Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028452 p.Trp33Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028453 p.Tyr35Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028454 p.Tyr35His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028455 p.Arg48Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028456 p.Lys67Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028457 p.Lys67Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028458 p.Leu69Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028459 p.Asp75Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028460 p.Asp75Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028463 p.Gly92Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028464 p.Gly92Val Disease rs28935204 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028465 p.Glu98Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028466 p.Asp101Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028467 p.Asp101His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028468 p.Asp101Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028469 p.Ala111Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028470 p.Ala111Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028471 p.His113Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028472 p.His113Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028473 p.Leu117Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028474 p.Gly121Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028475 p.Asp135Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028476 p.Thr137Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028477 p.Ser138Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028478 p.Glu141Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028479 p.Asp145His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028480 p.Val147Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028481 p.Val159Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028482 p.Asn163Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028483 p.Gly164Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028484 p.Cys172Trp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028485 p.Ser176Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028486 p.Ser179Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028487 p.Asp186Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028488 p.Asp186Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028489 p.Gly193Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028490 p.Cys198Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028491 p.Ser202Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028492 p.Phe214Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028493 p.Leu217His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028494 p.Ala219Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028495 p.Ala219Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028496 p.Val220Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028497 p.Glu223Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028498 p.Thr252Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028499 p.Pro262Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028500 p.Gly263Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028501 p.Cys267Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028502 p.Trp274Cys Disease rs34371500 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028503 p.His275Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028504 p.Glu284Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028505 p.Glu291Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028506 p.Phe295Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028507 p.Val297Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028508 p.Arg301Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028510 p.Ala303Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028511 p.Ala303Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028512 p.Ile307Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028513 p.Ala315Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028515 p.Leu326Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028516 p.Leu327Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028517 p.Cys329Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028518 p.Met339Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028519 p.Glu340Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028520 p.Val345Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028521 p.Tyr365Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028522 p.Trp401Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028523 p.Ile405Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028524 p.Trp412Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028525 p.Trp412Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028526 p.Lys427Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028527 p.Leu431Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028528 p.Arg437Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028529 p.Arg437Trp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028530 p.Ile438Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028531 p.Gly439Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028532 p.Tyr442Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028533 p.Tyr450Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028534 p.Thr454Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028535 p.Phe455Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028536 p.Gly466Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028537 p.Pro470Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028538 p.Pro470Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028539 p.Pro470Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028540 p.Gly474Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028541 p.Glu475Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028542 p.Gly477Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028543 p.Asp478Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028544 p.Thr479Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028545 p.Phe484Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028546 p.Arg490Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028547 p.Arg503His Disease rs35383156 Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028548 p.Gly513Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028549 p.Ile522Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028550 p.Trp532Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028551 p.Pro540Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028552 p.Thr541Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028553 p.Ser553Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028554 p.Ser554Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028555 p.Arg560Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028556 p.Asp561Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028557 p.Asp561His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028558 p.Val578Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028559 p.Asp579Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028560 p.Asp579His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028561 p.Asn583Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028562 p.Gln584His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028563 p.Gln584Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028564 p.Ile585Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028565 p.Asp588Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028566 p.Asp588Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028567 p.Leu594Gln Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028568 p.Asn601Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028569 p.Asn601Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028570 p.Arg602Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028571 p.Ser603Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028572 p.Tyr605His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028573 p.Asn609Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028574 p.Met633Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028575 p.Ser635Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028576 p.Asn637Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028577 p.Asn637Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028578 p.Tyr639Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028579 p.Leu650Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028580 p.Leu659Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028581 p.Gln664Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028582 p.Met681Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028583 p.Val682Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028584 p.Tyr683Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028585 p.Tyr683Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028586 p.Thr686Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028587 p.Phe698Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028588 p.Met699Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028589 p.Met701Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028590 p.Gly705Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028591 p.Gly710Trp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028592 p.Asn713Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028593 p.Arg717Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028594 p.Gly720Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028595 p.Met721Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028596 p.Met721Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028597 p.Leu725Gln Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028598 p.Tyr742Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028599 p.Pro947Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028600 p.Val1012Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028601 p.His1066Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028602 p.Gln1336Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028603 p.Asn1460Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028604 p.Ala1610Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028605 p.Ile1698Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028606 p.Glu1701Lys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028607 p.Gln1705His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028608 p.Thr1714Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028609 p.Asp1727Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028610 p.Arg1740Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028611 p.Lys1751Gln Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028612 p.Arg1768His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028613 p.Leu1771Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028614 p.Leu1777Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028615 p.Gly1779Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028616 p.Pro1780Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028617 p.Ile1782Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028618 p.Asp1788His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028619 p.Ala1798Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028620 p.Ser1799His Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028621 p.Pro1801Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028622 p.Tyr1802Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028623 p.Glu1848Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028624 p.Ser1858Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028625 p.Lys1864Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028626 p.His1867Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028627 p.Gly1869Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028628 p.Gly1872Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028629 p.Leu1875Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028630 p.Val1876Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028631 p.Cys1877Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028632 p.Leu1882Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028633 p.Ile1901Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028634 p.Glu1904Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028635 p.Ser1907Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028636 p.Ser1907Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028637 p.Trp1908Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028638 p.Tyr1909Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028639 p.Ala1939Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028640 p.Ala1939Val Unclassified - - F8 P00451 VAR_028641 p.Met1945Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028642 p.Leu1951Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028643 p.Ser1965Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028644 p.Met1966Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028645 p.Met1966Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028646 p.Ser1968Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028647 p.Asn1971Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028648 p.His1973Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028649 p.His1980Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028650 p.Phe1982Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028651 p.Arg1985Gln Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028652 p.Leu1994Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028653 p.Tyr1998Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028654 p.Gly2000Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028655 p.Thr2004Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028656 p.Met2007Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028657 p.Trp2015Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028658 p.Arg2016Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028659 p.Glu2018Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028660 p.Gly2022Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028661 p.Gly2028Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028662 p.Ser2030Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028663 p.Val2035Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028664 p.Cys2040Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028665 p.Gly2045Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028666 p.Gly2045Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028667 p.Ile2056Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028668 p.Ala2058Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028669 p.Pro2067Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028670 p.Ala2070Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028671 p.Ser2082Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028672 p.Asp2093Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028673 p.Gln2106Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028674 p.Gln2106Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028675 p.Arg2109Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028676 p.Ile2117Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028677 p.Ile2117Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028678 p.Gln2119Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028679 p.Phe2120Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028680 p.Phe2145Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028681 p.Asn2157Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028682 p.Pro2162Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028683 p.Arg2169Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028684 p.Thr2173Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028685 p.His2174Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028686 p.Arg2182Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028687 p.Met2183Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028688 p.Leu2185Trp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028689 p.Ser2192Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028690 p.Pro2196Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028691 p.Gly2198Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028692 p.Glu2200Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028693 p.Ala2220Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028695 p.Pro2224Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028696 p.Arg2228Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028697 p.Leu2229Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028698 p.Trp2248Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028699 p.Val2251Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028700 p.Val2251Glu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028701 p.Thr2264Ala Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028702 p.Phe2279Cys Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028703 p.Phe2279Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028704 p.Ile2281Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028705 p.Trp2290Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028706 p.Gly2304Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028707 p.Arg2323Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028708 p.Arg2323Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028709 p.Arg2326Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028710 p.Arg2326Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028711 p.Gln2330Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028712 p.Trp2332Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028713 p.Arg2339Thr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028714 p.Gly2344Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028715 p.Cys2345Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_028716 p.Cys2345Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_048438 p.Lys1289Gln Polymorphism rs1800292 - F8 P00451 VAR_065303 p.Pro83Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065304 p.Asp186Asn Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065305 p.Leu191Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065306 p.Leu195Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065307 p.Leu261Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065308 p.Gly280Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065309 p.Ala394Ser Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065310 p.Gly474Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065311 p.Pro496Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065312 p.Gly513Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065313 p.Pro569Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065314 p.Asn637Ile Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065315 p.Ala1720Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065316 p.Phe1762Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065317 p.Cys1877Tyr Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065318 p.Gly2013Arg Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065319 p.His2101Asp Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065320 p.Gln2106Pro Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065321 p.Met2143Val Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065322 p.Pro2172Leu Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065323 p.Asp2286Gly Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065324 p.Ile2336Phe Disease - Hemophilia A (HEMA) [MIM:306700] F8 P00451 VAR_065325 p.Gly2344Asp Disease - Hemophilia A (HEMA) [MIM:306700] F9 P00740 VAR_006520 p.Ile7Phe Polymorphism - - F9 P00740 VAR_006521 p.Ile17Asn Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006522 p.Cys28Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006523 p.Val30Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006524 p.Arg43Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006525 p.Arg43Leu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006526 p.Arg43Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006527 p.Lys45Asn Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006528 p.Arg46Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006529 p.Arg46Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006530 p.Asn48Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006531 p.Ser49Pro Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006532 p.Glu53Ala Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006533 p.Glu54Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006534 p.Phe55Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006535 p.Gly58Ala Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006536 p.Gly58Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006538 p.Glu66Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006539 p.Glu67Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006540 p.Phe71Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006541 p.Glu73Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006542 p.Glu73Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006543 p.Tyr91Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006544 p.Asp93Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006545 p.Gln96Pro Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006546 p.Cys97Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006547 p.Pro101Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006548 p.Cys102Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006549 p.Gly106Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006550 p.Cys108Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006551 p.Asp110Asn Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006552 p.Ile112Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006553 p.Asn113Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006554 p.Tyr115Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006555 p.Cys119Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006556 p.Cys119Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006557 p.Gly125Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006558 p.Gly125Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006560 p.Ile136Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006561 p.Gly139Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006562 p.Gly139Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006563 p.Cys155Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006564 p.Gly160Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006565 p.Gln167His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006566 p.Cys178Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006567 p.Cys178Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006568 p.Arg191His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006569 p.Arg191Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006570 p.Arg226Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006571 p.Arg226Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006572 p.Arg226Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006573 p.Val227Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006574 p.Val228Leu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006575 p.Gln241His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006576 p.Gly253Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006577 p.Gly253Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006578 p.Ala265Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006579 p.Ala279Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006580 p.Asn283Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006582 p.Arg294Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006583 p.Arg294Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006584 p.His302Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006585 p.Ile316Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006586 p.Leu321Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006587 p.Pro333His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006588 p.Thr342Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006589 p.Thr342Met Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006590 p.Gly351Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006591 p.Trp356Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006592 p.Gly357Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006593 p.Lys362Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006594 p.Gly363Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006595 p.Ala366Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006596 p.Arg379Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006597 p.Arg379Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006598 p.Cys382Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006599 p.Lys387Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006600 p.Ile390Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006601 p.Met394Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006602 p.Cys396Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006603 p.Arg404Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006604 p.Cys407Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006605 p.Gly413Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006606 p.Val419Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006607 p.Phe424Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006608 p.Thr426Pro Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006609 p.Ser430Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006610 p.Trp431Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006611 p.Trp431Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006612 p.Gly432Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006613 p.Gly432Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006614 p.Glu433Ala Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006615 p.Glu433Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006616 p.Ala436Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006618 p.Arg449Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006619 p.Arg449Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006620 p.Tyr450Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_006621 p.Ile454Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_011773 p.Thr194Ala Polymorphism rs6048 - F9 P00740 VAR_014308 p.Thr461Pro Polymorphism rs4149751 - F9 P00740 VAR_017307 p.Ala37Thr Unclassified - - F9 P00740 VAR_017308 p.Arg75Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017309 p.Glu79Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017310 p.Val227Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017311 p.Val228Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017312 p.Cys252Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017313 p.Cys268Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017314 p.Glu291Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017315 p.Asn306Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017316 p.Gly357Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017317 p.Ala397Pro Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017318 p.Asp410His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017319 p.Ser411Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017320 p.Ser411Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017321 p.Pro414Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017322 p.Gly442Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017323 p.Ile443Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017324 p.Trp453Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017343 p.Cys28Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017344 p.Leu52Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017345 p.Thr84Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017346 p.Gly106Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017347 p.Glu124Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017348 p.Gly125Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017349 p.Cys134Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017350 p.Ser169Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017351 p.Cys170Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017352 p.Gln241Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017353 p.Cys252Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017354 p.Leu318Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017355 p.Pro333Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017356 p.Ile344Leu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017357 p.Leu383Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017358 p.Leu383Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017359 p.Phe395Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017360 p.Phe395Leu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017361 p.Cys396Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017362 p.Cys407Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017363 p.Gly412Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017364 p.Cys435Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_017365 p.Gly442Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900] F9 P00740 VAR_062999 p.Arg384Leu Disease - Thrombophilia due to factor IX defect (THPH8) [MIM:300807] FA2H Q7L5A8 VAR_037503 p.Pro97Ala Polymorphism rs35874850 - FA2H Q7L5A8 VAR_054893 p.Asp35Tyr Disease - Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319] FA2H Q7L5A8 VAR_064621 p.Arg235Cys Disease - Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319] FA2H Q7L5A8 VAR_065245 p.Arg154Cys Disease - Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319] FAAH O00519 VAR_013563 p.Pro129Thr Polymorphism rs324420 - FAAH O00519 VAR_035704 p.Ala345Asp Unclassified - A breast cancer sample FAAP100 Q0VG06 VAR_032582 p.Pro660Leu Polymorphism rs11552304 - FAAP100 Q0VG06 VAR_032583 p.Thr817Ala Polymorphism rs14422 - FAAP20 Q6NZ36 VAR_038434 p.Pro126Ser Polymorphism rs1058411 - FAAP24 Q9BTP7 VAR_029828 p.Ser158Leu Polymorphism rs2304103 - FAAP24 Q9BTP7 VAR_029829 p.Ile192Thr Polymorphism rs3816032 - FAAP24 Q9BTP7 VAR_050989 p.Ser126Phe Polymorphism rs36017455 - FABP1 P07148 VAR_014662 p.Ala54Thr Polymorphism rs1801273 - FABP1 P07148 VAR_022093 p.Thr94Ala Polymorphism rs2241883 - FABP2 P12104 VAR_002379 p.Ala55Thr Polymorphism rs1799883 - FABP3 P05413 VAR_061165 p.Lys53Arg Polymorphism rs2228194 - FABP4 P15090 VAR_036320 p.Glu23Asp Unclassified - A breast cancer sample FABP6 P51161 VAR_039578 p.Arg33His Polymorphism rs17856662 - FABP6 P51161 VAR_039579 p.Ser55Tyr Polymorphism rs17852045 - FABP6 P51161 VAR_039580 p.Thr79Met Polymorphism rs1130435 - FABP7 O15540 VAR_049012 p.Thr61Met Polymorphism rs2279381 - FADD Q13158 VAR_065124 p.Cys105Trp Disease - Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] FADS1 O60427 VAR_035340 p.Pro329Ser Polymorphism rs17856235 - FADS3 Q9Y5Q0 VAR_035341 p.Lys192Asn Polymorphism rs35479241 - FADS3 Q9Y5Q0 VAR_035342 p.Asn216Lys Polymorphism rs34511441 - FAHD1 Q6P587 VAR_049014 p.Asp110Asn Polymorphism rs3743853 - FAHD2A Q96GK7 VAR_049015 p.Met198Thr Polymorphism rs1045332 - FAH P16930 VAR_005205 p.Asn16Ile Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005206 p.Phe62Cys Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005207 p.Gln64His Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005208 p.Ala134Asp Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005209 p.Gly158Asp Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005210 p.Val166Gly Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005211 p.Cys193Arg Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005212 p.Gly207Asp Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005213 p.Asp233Val Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005214 p.Trp234Gly Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005215 p.Pro249Thr Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005216 p.Pro261Leu Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005217 p.Thr294Pro Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005218 p.Gly337Ser Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005219 p.Arg341Trp Disease rs11555096 Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005220 p.Pro342Leu Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005222 p.Gly369Val Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005223 p.Arg381Gly Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_005224 p.Phe405His Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_065454 p.Ala35Thr Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAH P16930 VAR_065455 p.Gln279Arg Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700] FAIM Q9NVQ4 VAR_024314 p.Ala117Thr Polymorphism rs641320 - FAIM Q9NVQ4 VAR_024315 p.Leu127Ser Polymorphism rs13043 - FAM104B Q5XKR9 VAR_055796 p.Ser60Gly Polymorphism rs1047037 - FAM105A Q9NUU6 VAR_030281 p.Phe319Leu Polymorphism rs16903574 - FAM105B Q96BN8 VAR_029469 p.Ser227Asn Polymorphism rs9312870 - FAM105B Q96BN8 VAR_053819 p.Met155Leu Polymorphism rs11953822 - FAM105B Q96BN8 VAR_053820 p.Asn311Ser Polymorphism rs9312870 - FAM107A O95990 VAR_017238 p.Leu15Met Unclassified - Ovarian cancer FAM107A O95990 VAR_017239 p.Pro19Leu Unclassified - Renal cell carcinoma cell line FAM107A O95990 VAR_049016 p.Ala89Ser Polymorphism rs1043942 - FAM107A O95990 VAR_049017 p.Glu141Gln Polymorphism rs11539086 - FAM108B1 Q5VST6 VAR_031230 p.Gln169Lys Polymorphism rs17854317 - FAM108B1 Q5VST6 VAR_054080 p.Arg154Lys Polymorphism rs12380380 - FAM109B Q6ICB4 VAR_028822 p.Ala188Gly Polymorphism rs1807493 - FAM110A Q9BQ89 VAR_060150 p.Leu284Ile Polymorphism rs6055290 - FAM110B Q8TC76 VAR_036319 p.Ala214Ser Unclassified - A colorectal cancer sample FAM110D Q8TAY7 VAR_038860 p.His53Arg Polymorphism rs3748856 - FAM111B Q6SJ93 VAR_030282 p.Pro731Ala Polymorphism rs17153376 - FAM111B Q6SJ93 VAR_053821 p.Gly218Asp Polymorphism rs1060428 - FAM114A1 Q8IWE2 VAR_030320 p.Gly84Arg Polymorphism rs11096964 - FAM114A1 Q8IWE2 VAR_030321 p.Leu116Pro Polymorphism rs11944159 - FAM114A1 Q8IWE2 VAR_030322 p.Pro201Leu Polymorphism rs430296 - FAM114A1 Q8IWE2 VAR_030323 p.Arg367His Polymorphism rs2306923 - FAM114A1 Q8IWE2 VAR_030324 p.Val443Ile Polymorphism rs17429619 - FAM114A1 Q8IWE2 VAR_053823 p.Ser40Leu Polymorphism rs34137542 - FAM114A1 Q8IWE2 VAR_053824 p.Ser446Leu Polymorphism rs36058104 - FAM118A Q9NWS6 VAR_022808 p.Val129Leu Polymorphism rs11556482 - FAM118A Q9NWS6 VAR_022809 p.Arg239His Polymorphism rs6007594 - FAM120AOS Q5T036 VAR_043677 p.Leu22Phe Polymorphism rs1055710 - FAM120AOS Q5T036 VAR_043678 p.Lys241Glu Polymorphism rs10821128 - FAM120A Q9NZB2 VAR_054400 p.Tyr327His Polymorphism rs11541747 - FAM120B Q96EK7 VAR_043021 p.Asp370Tyr Polymorphism rs6917485 - FAM120B Q96EK7 VAR_043022 p.Met379Thr Polymorphism rs6905356 - FAM120B Q96EK7 VAR_043023 p.Tyr428Cys Polymorphism rs6900199 - FAM120B Q96EK7 VAR_043024 p.Asp430Gly Polymorphism rs6900202 - FAM120B Q96EK7 VAR_043025 p.Ser431Pro Polymorphism rs6905610 - FAM120B Q96EK7 VAR_043026 p.Pro433Ala Polymorphism rs6934830 - FAM120B Q96EK7 VAR_043027 p.Tyr440Cys Polymorphism rs9366138 - FAM120B Q96EK7 VAR_043028 p.Cys511Gly Polymorphism rs9348266 - FAM120C Q9NX05 VAR_047538 p.Ile82Thr Polymorphism rs2495783 - FAM120C Q9NX05 VAR_062001 p.Met934Ile Polymorphism rs41304786 - FAM124A Q86V42 VAR_032098 p.Asp181His Polymorphism rs17075482 - FAM124B Q9H5Z6 VAR_060151 p.Ile257Thr Polymorphism rs3738954 - FAM126A Q9BYI3 VAR_030647 p.Leu53Pro Disease - Leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532] FAM127A A6ZKI3 VAR_053975 p.Ser60Asn Polymorphism rs1056977 - FAM127A O15255 VAR_037283 p.Ser152Trp Polymorphism rs5930670 - FAM127B Q9BWD3 VAR_060162 p.Ser48Cys Polymorphism rs2498776 - FAM129A Q9BZQ8 VAR_053533 p.Ser633Leu Polymorphism rs12750174 - FAM129A Q9BZQ8 VAR_053534 p.Asp692Asn Polymorphism rs35704242 - FAM129A Q9BZQ8 VAR_053535 p.Val720Met Polymorphism rs17313374 - FAM129A Q9BZQ8 VAR_053536 p.Gly830Ser Polymorphism rs35601690 - FAM129C Q86XR2 VAR_039583 p.Ile229Thr Polymorphism rs8107859 - FAM129C Q86XR2 VAR_039584 p.Leu543Phe Polymorphism rs10401716 - FAM129C Q86XR2 VAR_039585 p.Gly603Ser Polymorphism rs11666267 - FAM129C Q86XR2 VAR_062126 p.Thr493Met Polymorphism rs45532635 - FAM131A Q6UXB0 VAR_036118 p.Ser260Asn Unclassified - A breast cancer sample FAM131A Q6UXB0 VAR_053919 p.Cys52Arg Polymorphism rs13434353 - FAM131B Q86XD5 VAR_053920 p.Ala307Thr Polymorphism rs17854363 - FAM131C Q96AQ9 VAR_031130 p.Lys48Glu Polymorphism rs2863458 - FAM131C Q96AQ9 VAR_031131 p.Arg107Gln Polymorphism rs11557063 - FAM131C Q96AQ9 VAR_031132 p.Pro123Arg Polymorphism rs11576236 - FAM131C Q96AQ9 VAR_031133 p.Ser215Ile Polymorphism rs1832151 - FAM131C Q96AQ9 VAR_031134 p.Glu226Asp Polymorphism rs17853749 - FAM132A Q5T7M4 VAR_054065 p.Gly14Arg Polymorphism rs7539412 - FAM133A Q8N9E0 VAR_053907 p.Glu67Lys Polymorphism rs34123774 - FAM134A Q8NC44 VAR_022835 p.Pro419Gln Polymorphism rs3731900 - FAM134A Q8NC44 VAR_033720 p.Arg374His Polymorphism rs3210652 - FAM134B Q9H6L5 VAR_032422 p.Gln379Glu Polymorphism rs34432513 - FAM135A Q9P2D6 VAR_037854 p.Ile725Val Polymorphism rs9455142 - FAM135A Q9P2D6 VAR_037855 p.Pro954Ser Polymorphism rs16869301 - FAM135A Q9P2D6 VAR_037856 p.Asp1242Gly Polymorphism rs2747701 - FAM135B Q49AJ0 VAR_053980 p.Ile477Val Polymorphism rs7835830 - FAM135B Q49AJ0 VAR_053981 p.Asp846Asn Polymorphism rs2978180 - FAM135B Q49AJ0 VAR_062218 p.Ser578Asn Polymorphism rs57534956 - FAM135B Q49AJ0 VAR_062219 p.Val1142Ile Polymorphism rs35765793 - FAM13A O94988 VAR_049019 p.Val769Ile Polymorphism rs7657817 - FAM13B Q9NYF5 VAR_049020 p.Met802Val Polymorphism rs33956817 - FAM13C Q8NE31 VAR_047661 p.Pro82His Polymorphism rs17853626 - FAM149A A5PLN7 VAR_039050 p.Lys332Glu Polymorphism rs4862650 - FAM149A A5PLN7 VAR_039051 p.Lys437Glu Polymorphism rs4862653 - FAM149A A5PLN7 VAR_039052 p.His505Arg Polymorphism rs2276924 - FAM149A A5PLN7 VAR_039053 p.Pro532Leu Polymorphism rs2276922 - FAM149A A5PLN7 VAR_039054 p.Arg722Trp Polymorphism rs9991339 - FAM149A A5PLN7 VAR_039055 p.Leu748Val Polymorphism rs6818265 - FAM149B1 Q96BN6 VAR_060167 p.Gly571Arg Polymorphism rs12573841 - FAM151A Q8WW52 VAR_037109 p.Asp51Asn Polymorphism rs17399297 - FAM151A Q8WW52 VAR_037110 p.Asn87Asp Polymorphism rs17856620 - FAM151A Q8WW52 VAR_037111 p.Ile119Thr Polymorphism rs17851843 - FAM151A Q8WW52 VAR_037112 p.Ala416Val Polymorphism rs1368883 - FAM151A Q8WW52 VAR_037113 p.Gly526Ala Polymorphism rs11206394 - FAM151A Q8WW52 VAR_037114 p.Gly546Asp Polymorphism rs2289015 - FAM151B Q6UXP7 VAR_053992 p.Ile155Thr Polymorphism rs369998 - FAM154A Q8IYX7 VAR_023229 p.Lys27Glu Polymorphism rs7021572 - FAM154A Q8IYX7 VAR_023230 p.Pro63Ser Polymorphism rs6475273 - FAM154A Q8IYX7 VAR_057807 p.Asn385Ser Polymorphism rs34119945 - FAM154B Q658L1 VAR_039359 p.Ser8Gly Polymorphism rs11631813 - FAM154B Q658L1 VAR_039360 p.Pro34Leu Polymorphism rs16973457 - FAM154B Q658L1 VAR_039361 p.Trp225Arg Polymorphism rs11630197 - FAM155B O75949 VAR_043975 p.Leu172Pro Polymorphism rs1171942 - FAM159B A6NKW6 VAR_053995 p.Ser5Arg Polymorphism rs16893053 - FAM159B A6NKW6 VAR_053996 p.Ala111Pro Polymorphism rs2305962 - FAM160A2 Q8N612 VAR_028739 p.Thr491Met Polymorphism rs3750944 - FAM160A2 Q8N612 VAR_028740 p.Arg619Leu Polymorphism rs3750943 - FAM160A2 Q8N612 VAR_028741 p.Gln754His Polymorphism rs11040808 - FAM160A2 Q8N612 VAR_057805 p.Arg462Trp Polymorphism rs35932378 - FAM160B1 Q5W0V3 VAR_031793 p.Leu408Ile Polymorphism rs17853717 - FAM160B1 Q5W0V3 VAR_031794 p.Phe631Leu Polymorphism rs3180654 - FAM160B2 Q86V87 VAR_054008 p.Thr315Ala Polymorphism rs35497596 - FAM160B2 Q86V87 VAR_054009 p.Gly667Arg Polymorphism rs7822461 - FAM161A Q3B820 VAR_042630 p.Ile236Val Polymorphism rs17513722 - FAM161A Q3B820 VAR_042631 p.Glu273Lys Polymorphism rs6733774 - FAM161A Q3B820 VAR_060180 p.Ile107Met Polymorphism rs11125895 - FAM161B Q96MY7 VAR_027963 p.Gly11Ala Polymorphism rs11848954 - FAM161B Q96MY7 VAR_027964 p.Leu622Pro Polymorphism rs17094077 - FAM162A Q96A26 VAR_028849 p.Ala50Val Polymorphism rs17850692 - FAM162B Q5T6X4 VAR_053782 p.Gln71His Polymorphism rs654128 - FAM167A Q96KS9 VAR_062205 p.His56Gln Polymorphism rs3021513 - FAM167A Q96KS9 VAR_062206 p.Thr107Ser Polymorphism rs3021512 - FAM169B Q8N8A8 VAR_044345 p.Ser115Pro Polymorphism rs12101356 - FAM170A A1A519 VAR_047312 p.Pro173Ser Polymorphism rs328694 - FAM170B A6NMN3 VAR_037062 p.Arg69Leu Polymorphism rs17773851 - FAM171A1 Q5VUB5 VAR_030220 p.Pro465Ser Polymorphism rs3814165 - FAM171B Q6P995 VAR_032269 p.Val302Ile Polymorphism rs17855085 - FAM172A Q8WUF8 VAR_039312 p.Ser131Asn Polymorphism rs17083426 - FAM173B Q6P4H8 VAR_039345 p.Thr75Met Polymorphism rs2438652 - FAM173B Q6P4H8 VAR_039346 p.Ala105Val Polymorphism rs16884350 - FAM173B Q6P4H8 VAR_039347 p.Val114Ala Polymorphism rs17360625 - FAM173B Q6P4H8 VAR_039348 p.Leu229Met Polymorphism rs15757 - FAM174B Q3ZCQ3 VAR_039989 p.Ser116Leu Polymorphism rs34052034 - FAM175A Q6UWZ7 VAR_030790 p.Ala239Thr Polymorphism rs12642536 - FAM175A Q6UWZ7 VAR_054054 p.Ala348Thr Polymorphism rs12642536 - FAM175A Q6UWZ7 VAR_054055 p.Asp373Asn Polymorphism rs13125836 - FAM177B A6PVY3 VAR_039953 p.Ile3Ser Polymorphism rs2378607 - FAM177B A6PVY3 VAR_054090 p.Gln143Arg Polymorphism rs6683071 - FAM178A Q8IX21 VAR_023112 p.Ser541Tyr Polymorphism rs10883563 - FAM178B Q8IXR5 VAR_039172 p.Arg793Cys Polymorphism rs34013660 - FAM179A Q6ZUX3 VAR_054091 p.Ala55Thr Polymorphism rs13009279 - FAM179A Q6ZUX3 VAR_054092 p.Gln265Arg Polymorphism rs12623297 - FAM179A Q6ZUX3 VAR_054093 p.Gln362Arg Polymorphism rs11127202 - FAM179A Q6ZUX3 VAR_054094 p.Ile441Val Polymorphism rs1109758 - FAM179A Q6ZUX3 VAR_054095 p.Val535Ala Polymorphism rs6721861 - FAM179A Q6ZUX3 VAR_054096 p.Thr941Ala Polymorphism rs895591 - FAM179A Q6ZUX3 VAR_054097 p.Gly944Val Polymorphism rs7577483 - FAM179A Q6ZUX3 VAR_062242 p.Arg724Cys Polymorphism rs60403047 - FAM179B Q9Y4F4 VAR_027739 p.Glu416Gln Polymorphism rs3825629 - FAM179B Q9Y4F4 VAR_027740 p.Leu511Val Polymorphism rs3742591 - FAM180A Q6UWF9 VAR_054081 p.Val96Ile Polymorphism rs3112374 - FAM180B Q6P0A1 VAR_046379 p.Ala186Thr Polymorphism rs4486587 - FAM181A Q8N9Y4 VAR_022834 p.Ala28Thr Polymorphism rs10141024 - FAM181A Q8N9Y4 VAR_057822 p.Leu162Met Polymorphism rs34220325 - FAM181B A6NEQ2 VAR_039694 p.Val186Leu Polymorphism rs986097 - FAM181B A6NEQ2 VAR_039695 p.Arg367Pro Polymorphism rs6592081 - FAM184A Q8NB25 VAR_054101 p.Gln174His Polymorphism rs34681930 - FAM184A Q8NB25 VAR_054102 p.Val177Gly Polymorphism rs34977570 - FAM184A Q8NB25 VAR_054103 p.Asp599Asn Polymorphism rs17827619 - FAM184B Q9ULE4 VAR_039202 p.Asn952Ser Polymorphism rs16895365 - FAM184B Q9ULE4 VAR_039203 p.Val1042Ala Polymorphism rs6825562 - FAM185A Q8N0U4 VAR_039356 p.Gly60Ala Polymorphism rs28695887 - FAM186A A6NE01 VAR_054419 p.Lys187Gln Polymorphism rs12303082 - FAM186A A6NE01 VAR_054420 p.Arg1204Gly Polymorphism rs10876024 - FAM186A A6NE01 VAR_054421 p.Leu1233Pro Polymorphism rs10876023 - FAM186A A6NE01 VAR_054422 p.His2166Tyr Polymorphism rs7296291 - FAM186A A6NE01 VAR_054423 p.Met2193Ile Polymorphism rs6580742 - FAM186A A6NE01 VAR_054424 p.His2228Gln Polymorphism rs6580741 - FAM186A A6NE01 VAR_054425 p.Gln2316Glu Polymorphism rs12809349 - FAM186B Q8IYM0 VAR_027777 p.Val397Met Polymorphism rs17853450 - FAM186B Q8IYM0 VAR_027778 p.Glu553Gln Polymorphism rs12299908 - FAM187B Q17R55 VAR_031790 p.Pro3Ser Polymorphism rs34873156 - FAM187B Q17R55 VAR_031791 p.Cys160Arg Polymorphism rs565791 - FAM187B Q17R55 VAR_031792 p.Val216Ile Polymorphism rs564117 - FAM188B Q4G0A6 VAR_039212 p.Asp183Ala Polymorphism rs34357272 - FAM188B Q4G0A6 VAR_039213 p.Ser262Leu Polymorphism rs17159453 - FAM188B Q4G0A6 VAR_039214 p.Thr322Met Polymorphism rs12701034 - FAM188B Q4G0A6 VAR_039215 p.Arg324Lys Polymorphism rs35897481 - FAM188B Q4G0A6 VAR_039216 p.Ala355Val Polymorphism rs12672119 - FAM188B Q4G0A6 VAR_039217 p.Met655Val Polymorphism rs10216063 - FAM188B Q4G0A6 VAR_062248 p.Cys465Tyr Polymorphism rs34970833 - FAM189A1 O60320 VAR_039544 p.His375Arg Polymorphism rs2256277 - FAM189A1 O60320 VAR_039545 p.Arg393His Polymorphism rs2256273 - FAM189A1 O60320 VAR_059333 p.Gly228Ser Polymorphism rs2292628 - FAM189A1 O60320 VAR_059334 p.Gly314Asp Polymorphism rs2306933 - FAM189A1 O60320 VAR_059335 p.Val431Ala Polymorphism rs2279482 - FAM189A2 Q15884 VAR_047364 p.Thr233Ile Polymorphism rs35386391 - FAM189A2 Q15884 VAR_050823 p.Arg261Lys Polymorphism rs11138396 - FAM189B P81408 VAR_035684 p.Ser358Phe Unclassified - A breast cancer sample FAM189B P81408 VAR_037876 p.Arg549His Polymorphism rs2072648 - FAM189B P81408 VAR_056842 p.Arg646His Polymorphism rs2072648 - FAM193A P78312 VAR_022863 p.Met192Val Polymorphism rs17164077 - FAM193A P78312 VAR_056783 p.Ile1115Val Polymorphism rs17681870 - FAM193B Q96PV7 VAR_045619 p.Pro816Ser Polymorphism rs337382 - FAM194A Q7L0X2 VAR_032893 p.Gly9Val Polymorphism rs16862795 - FAM194A Q7L0X2 VAR_032894 p.Gly433Arg Polymorphism rs11919896 - FAM194A Q7L0X2 VAR_062240 p.Arg604His Polymorphism rs34137455 - FAM194B Q5W0A0 VAR_039969 p.Glu63Asp Polymorphism rs12020217 - FAM194B Q5W0A0 VAR_039970 p.Glu99Gly Polymorphism rs12020731 - FAM194B Q5W0A0 VAR_039971 p.Ser174Thr Polymorphism rs17066954 - FAM194B Q5W0A0 VAR_039972 p.Glu178Lys Polymorphism rs3014939 - FAM194B Q5W0A0 VAR_039973 p.Leu303Pro Polymorphism rs11618506 - FAM194B Q5W0A0 VAR_039974 p.Thr427Ile Polymorphism rs749071 - FAM194B Q5W0A0 VAR_039975 p.Pro439Arg Polymorphism rs12429125 - FAM194B Q5W0A0 VAR_039976 p.His453Arg Polymorphism rs17066902 - FAM194B Q5W0A0 VAR_039977 p.Arg565Cys Polymorphism rs7327901 - FAM194B Q5W0A0 VAR_039978 p.Val653Phe Polymorphism rs1536207 - FAM196A Q6ZSG2 VAR_042679 p.Ala147Val Polymorphism rs11594560 - FAM198A Q9UFP1 VAR_063129 p.His227Tyr Polymorphism rs2936817 - FAM198A Q9UFP1 VAR_063130 p.Gln460Arg Polymorphism rs536119 - FAM198B Q6UWH4 VAR_032514 p.Gly432Ser Polymorphism rs17857283 - FAM205B Q63HN1 VAR_036833 p.Asn72Lys Polymorphism rs521552 - FAM205B Q63HN1 VAR_036834 p.Asp203Glu Polymorphism rs524512 - FAM205B Q63HN1 VAR_036835 p.Val229Met Polymorphism rs516485 - FAM207A Q9NSI2 VAR_021949 p.Val212Leu Polymorphism rs3737075 - FAM208A Q9UK61 VAR_033350 p.Ala831Gly Polymorphism rs17056999 - FAM208A Q9UK61 VAR_033351 p.Thr1046Arg Polymorphism rs9835332 - FAM208A Q9UK61 VAR_033352 p.Ile1435Val Polymorphism rs2291498 - FAM208A Q9UK61 VAR_055092 p.Val998Ile Polymorphism rs2291498 - FAM208A Q9UK61 VAR_059595 p.Gln38Pro Polymorphism rs958755 - FAM208B Q5VWN6 VAR_034838 p.Arg1075Pro Polymorphism rs2797491 - FAM208B Q5VWN6 VAR_034839 p.Val1679Ala Polymorphism rs2669142 - FAM208B Q5VWN6 VAR_034840 p.Ser2404Asn Polymorphism rs2797501 - FAM208B Q5VWN6 VAR_050848 p.Cys499Gly Polymorphism rs2254067 - FAM208B Q5VWN6 VAR_050849 p.Ala630Asp Polymorphism rs4748636 - FAM208B Q5VWN6 VAR_050850 p.Val1206Met Polymorphism rs3814196 - FAM208B Q5VWN6 VAR_050851 p.Pro1578Ser Polymorphism rs17143175 - FAM208B Q5VWN6 VAR_050852 p.Thr1782Ile Polymorphism rs11593253 - FAM208B Q5VWN6 VAR_050853 p.Lys2288Arg Polymorphism rs2275774 - FAM208B Q5VWN6 VAR_061601 p.Ser724Tyr Polymorphism rs56856085 - FAM208B Q5VWN6 VAR_061602 p.Ile807Val Polymorphism rs45575338 - FAM209A Q5JX71 VAR_029621 p.Val66Ala Polymorphism rs707554 - FAM209A Q5JX71 VAR_029622 p.Met117Lys Polymorphism rs1054349 - FAM209A Q5JX71 VAR_029623 p.Arg135Gly Polymorphism rs1054358 - FAM209A Q5JX71 VAR_029624 p.Arg146Lys Polymorphism rs1054361 - FAM209A Q5JX71 VAR_033761 p.Leu95Phe Polymorphism rs1054343 - FAM209B Q5JX69 VAR_033762 p.Glu129Ala Polymorphism rs2296129 - FAM209B Q5JX69 VAR_050918 p.Gln74Lys Polymorphism rs3209183 - FAM209B Q5JX69 VAR_061633 p.Glu84Lys Polymorphism rs61440263 - FAM20A Q96MK3 VAR_059282 p.Asn332Lys Polymorphism rs2302234 - FAM20A Q96MK3 VAR_059283 p.Leu530Ser Polymorphism rs2907373 - FAM20C Q8IXL6 VAR_037530 p.Gly379Glu Disease - Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_037531 p.Gly379Arg Disease - Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_037532 p.Leu388Arg Disease - Raine syndrome (RNS) [MIM:259775] FAM20C Q8IXL6 VAR_037533 p.Arg549Trp Disease - Raine syndrome (RNS) [MIM:259775] FAM210A Q96ND0 VAR_035686 p.Arg82His Unclassified - A breast cancer sample FAM210A Q96ND0 VAR_035687 p.Val140Glu Unclassified - A breast cancer sample FAM210A Q96ND0 VAR_056844 p.Tyr39Asn Polymorphism rs35493157 - FAM210A Q96ND0 VAR_060439 p.Glu167Lys Polymorphism rs2847146 - FAM210B Q96KR6 VAR_033763 p.Pro126Ser Polymorphism rs6099115 - FAM211B Q2VPJ9 VAR_051125 p.Ser140Arg Polymorphism rs743370 - FAM214A Q32MH5 VAR_038258 p.Gln135Arg Polymorphism rs8036680 - FAM214A Q32MH5 VAR_038259 p.Val560Ile Polymorphism rs12915981 - FAM216A Q8WUB2 VAR_032513 p.Arg225Gly Polymorphism rs17188964 - FAM216B Q8N7L0 VAR_033743 p.Arg134Cys Polymorphism rs35889214 - FAM217A Q8IXS0 VAR_023207 p.Val431Ile Polymorphism rs595413 - FAM217A Q8IXS0 VAR_056801 p.Ala258Thr Polymorphism rs639905 - FAM217A Q8IXS0 VAR_056802 p.Gln309Pro Polymorphism rs10080405 - FAM217A Q8IXS0 VAR_056803 p.Cys360Ser Polymorphism rs17137618 - FAM217A Q8IXS0 VAR_056804 p.Met442Val Polymorphism rs10485172 - FAM217B Q9NTX9 VAR_035691 p.Ser95Gly Unclassified - A breast cancer sample FAM217B Q9NTX9 VAR_050922 p.Tyr380Cys Polymorphism rs6027210 - FAM218A Q96MZ4 VAR_044025 p.His54Arg Polymorphism rs3733418 - FAM220A Q7Z4H9 VAR_039375 p.Gly71Arg Polymorphism rs3750041 - FAM220A Q7Z4H9 VAR_039376 p.Arg127Gln Polymorphism rs3750040 - FAM220A Q7Z4H9 VAR_039377 p.Val161Leu Polymorphism rs3750039 - FAM220A Q7Z4H9 VAR_039378 p.Val198Met Polymorphism rs6952125 - FAM220A Q7Z4H9 VAR_039379 p.Gly237Ser Polymorphism rs2241445 - FAM220BP B1ANY3 VAR_050820 p.Trp162Arg Polymorphism rs1832322 - FAM220BP B1ANY3 VAR_050821 p.Lys199Asn Polymorphism rs1832323 - FAM220BP B1ANY3 VAR_050822 p.Lys203Asn Polymorphism rs12336220 - FAM221A A4D161 VAR_033215 p.Tyr20His Polymorphism rs17855785 - FAM221A A4D161 VAR_033216 p.Ala90Thr Polymorphism rs34518648 - FAM221A A4D161 VAR_033217 p.Cys95Arg Polymorphism rs35495590 - FAM221A A4D161 VAR_033218 p.His128Arg Polymorphism rs17855786 - FAM221A A4D161 VAR_033219 p.Ser240Gly Polymorphism rs35928055 - FAM221B A6H8Z2 VAR_061598 p.His34Arg Polymorphism rs13294256 - FAM221B A6H8Z2 VAR_061599 p.Lys41Glu Polymorphism rs13294245 - FAM222B Q8WU58 VAR_050900 p.Leu471Ser Polymorphism rs2043031 - FAM222B Q8WU58 VAR_050901 p.Gly542Ser Polymorphism rs36029715 - FAM228A Q86W67 VAR_046178 p.Tyr140Cys Polymorphism rs2288073 - FAM24B Q8N5W8 VAR_038485 p.Pro2Leu Polymorphism rs1891110 - FAM25A B3EWG3 VAR_054062 p.Val35Leu Polymorphism rs7079587 - FAM26F Q5R3K3 VAR_053085 p.Gly80Arg Polymorphism rs1057192 - FAM26F Q5R3K3 VAR_053086 p.Glu293Lys Polymorphism rs11544160 - FAM35A Q86V20 VAR_053997 p.Phe132Leu Polymorphism rs3129520 - FAM35A Q86V20 VAR_053998 p.Ser550Cys Polymorphism rs11202365 - FAM35A Q86V20 VAR_053999 p.Arg747His Polymorphism rs11816168 - FAM3A P98173 VAR_011923 p.Trp213Cys Polymorphism rs1050788 - FAM3A P98173 VAR_057531 p.Ile21Met Polymorphism rs35985994 - FAM3B P58499 VAR_021953 p.Val14Met Polymorphism rs2838012 - FAM3D Q96BQ1 VAR_053087 p.Pro60Ser Polymorphism rs17059569 - FAM3D Q96BQ1 VAR_053088 p.Ala118Ser Polymorphism rs33966924 - FAM46A Q96IP4 VAR_028979 p.Thr313Ala Polymorphism - - FAM46C Q5VWP2 VAR_060132 p.His67Gln Polymorphism rs1630312 - FAM46D Q8NEK8 VAR_028980 p.Asp185Glu Polymorphism rs1113265 - FAM47A Q5JRC9 VAR_054412 p.Phe50Leu Polymorphism rs17856750 - FAM47A Q5JRC9 VAR_054413 p.Val232Glu Polymorphism rs17856751 - FAM47A Q5JRC9 VAR_054414 p.Ala377Ser Polymorphism rs1811716 - FAM47A Q5JRC9 VAR_054416 p.Gly531Arg Polymorphism rs5971820 - FAM47C Q5HY64 VAR_046358 p.Asn924Thr Polymorphism rs1995914 - FAM49B Q9NUQ9 VAR_019704 p.Asn169Lys Polymorphism - - FAM53C Q9NYF3 VAR_053089 p.Arg21Cys Polymorphism rs35360938 - FAM58A Q8N1B3 VAR_034642 p.Cys183Ser Polymorphism rs17850173 - FAM58BP P0C7Q3 VAR_044332 p.Gln48Arg Polymorphism rs12028402 - FAM58BP P0C7Q3 VAR_044333 p.Thr236Asn Polymorphism rs10919847 - FAM5B Q9C0B6 VAR_049022 p.Tyr71Cys Polymorphism rs16850984 - FAM5B Q9C0B6 VAR_049023 p.Leu390Val Polymorphism rs3176443 - FAM60A Q9NP50 VAR_049027 p.Arg117His Polymorphism rs2304459 - FAM63A Q8N5J2 VAR_044541 p.Thr385Lys Polymorphism rs2925741 - FAM64A Q9BSJ6 VAR_056873 p.Ser199Cys Polymorphism rs16955870 - FAM65B Q9Y4F9 VAR_032572 p.Ala145Gly Polymorphism rs11967003 - FAM65B Q9Y4F9 VAR_032573 p.Val320Met Polymorphism rs35331811 - FAM65B Q9Y4F9 VAR_032574 p.Glu424Lys Polymorphism rs34016544 - FAM65B Q9Y4F9 VAR_032575 p.Ser452Cys Polymorphism rs34298086 - FAM65B Q9Y4F9 VAR_032576 p.Glu495Lys Polymorphism rs35514577 - FAM65B Q9Y4F9 VAR_032577 p.Arg520Cys Polymorphism rs35780910 - FAM65B Q9Y4F9 VAR_062193 p.Arg868Gln Polymorphism rs9461073 - FAM65C Q96MK2 VAR_053914 p.Leu580Pro Polymorphism rs6020624 - FAM65C Q96MK2 VAR_062194 p.Cys566Ser Polymorphism rs35965508 - FAM69B Q5VUD6 VAR_032295 p.Ser158Gly Polymorphism rs945384 - FAM71A Q8IYT1 VAR_029464 p.Asn22Asp Polymorphism rs17853363 - FAM71A Q8IYT1 VAR_029465 p.Asn253Ser Polymorphism rs3122712 - FAM71A Q8IYT1 VAR_029466 p.Gly319Asp Polymorphism rs17853362 - FAM71A Q8IYT1 VAR_029467 p.Asn551Asp Polymorphism rs3122713 - FAM71A Q8IYT1 VAR_029468 p.Thr577Met Polymorphism rs3795842 - FAM71B Q8TC56 VAR_032036 p.Ala543Val Polymorphism rs17852327 - FAM71B Q8TC56 VAR_032037 p.Met564Thr Polymorphism rs31208 - FAM71B Q8TC56 VAR_032038 p.Val599Ile Polymorphism rs2115480 - FAM71C Q8NEG0 VAR_029638 p.Arg30Gly Polymorphism rs11109968 - FAM71C Q8NEG0 VAR_029639 p.Met71Val Polymorphism rs11109969 - FAM71E1 Q6IPT2 VAR_043465 p.Ser206Ile Polymorphism rs736769 - FAM71F1 Q96KD3 VAR_037271 p.Ser228Leu Polymorphism rs6949056 - FAM71F1 Q96KD3 VAR_037272 p.Glu242Lys Polymorphism rs6971091 - FAM71F2 Q6NXP2 VAR_037267 p.Pro112Thr Polymorphism rs17169357 - FAM71F2 Q6NXP2 VAR_037268 p.Asp114Val Polymorphism rs6971819 - FAM71F2 Q6NXP2 VAR_037269 p.Arg136Trp Polymorphism rs6467210 - FAM71F2 Q6NXP2 VAR_037270 p.Ile251Val Polymorphism rs1109552 - FAM72B Q86X60 VAR_044011 p.Gly82Val Polymorphism rs17838150 - FAM72B Q86X60 VAR_044012 p.Pro94Leu Polymorphism rs1572701 - FAM73B Q7L4E1 VAR_037690 p.Glu78Lys Polymorphism rs6478859 - FAM73B Q7L4E1 VAR_037691 p.Val100Ala Polymorphism rs16930845 - FAM73B Q7L4E1 VAR_037692 p.Gly212Ser Polymorphism rs17452596 - FAM74A7 A6NL05 VAR_045629 p.Asp12Tyr Polymorphism rs11793234 - FAM74A7 A6NL05 VAR_045630 p.Arg72Lys Polymorphism rs2261191 - FAM74A7 A6NL05 VAR_045631 p.Arg86Thr Polymorphism rs6423979 - FAM81B Q96LP2 VAR_057968 p.Arg150Gly Polymorphism rs10042271 - FAM81B Q96LP2 VAR_057969 p.Ala187Val Polymorphism rs11555275 - FAM81B Q96LP2 VAR_057970 p.Arg239Gln Polymorphism rs1541797 - FAM81B Q96LP2 VAR_057971 p.Pro275Ser Polymorphism rs6878669 - FAM83A Q86UY5 VAR_032178 p.Ala237Thr Polymorphism rs7813708 - FAM83B Q5T0W9 VAR_034638 p.Asn410Ser Polymorphism rs13211183 - FAM83B Q5T0W9 VAR_034639 p.Ser435Arg Polymorphism rs9475076 - FAM83B Q5T0W9 VAR_034640 p.Lys640Thr Polymorphism rs239798 - FAM83B Q5T0W9 VAR_034641 p.Thr907Asn Polymorphism rs9475077 - FAM83C Q9BQN1 VAR_021946 p.Arg621Gln Polymorphism rs2425049 - FAM83C Q9BQN1 VAR_053900 p.Glu134Lys Polymorphism rs35162625 - FAM83C Q9BQN1 VAR_053901 p.Tyr600His Polymorphism rs35560631 - FAM83C Q9BQN1 VAR_053902 p.Arg645Cys Polymorphism rs35518957 - FAM83E Q2M2I3 VAR_038130 p.Thr91Ala Polymorphism rs447802 - FAM83E Q2M2I3 VAR_038131 p.Pro311Leu Polymorphism rs3745728 - FAM83E Q2M2I3 VAR_038132 p.Arg372His Polymorphism rs3745727 - FAM83F Q8NEG4 VAR_038134 p.Arg245Ser Polymorphism rs12330063 - FAM83F Q8NEG4 VAR_038135 p.Gly353Ser Polymorphism rs35823589 - FAM83F Q8NEG4 VAR_038136 p.Ala418Val Unclassified - A breast cancer sample FAM83F Q8NEG4 VAR_038137 p.Arg436Gly Polymorphism rs5995794 - FAM83G A6ND36 VAR_053903 p.Ile109Thr Polymorphism rs2074283 - FAM83H Q6ZRV2 VAR_062189 p.Gln201His Polymorphism rs9969600 - FAM86A Q96G04 VAR_033854 p.Ser123Cys Polymorphism rs9673733 - FAM86A Q96G04 VAR_060160 p.Arg270Trp Polymorphism rs3204207 - FAM86B2 P0C5J1 VAR_036617 p.Asp43Tyr Polymorphism rs2684093 - FAM86B2 P0C5J1 VAR_036618 p.Arg285Ser Polymorphism rs7817085 - FAM86C1 Q9NVL1 VAR_036619 p.Ala7Ser Polymorphism rs12283300 - FAM86C1 Q9NVL1 VAR_036620 p.Arg30Pro Polymorphism rs12283346 - FAM86C1 Q9NVL1 VAR_036621 p.Val70Ala Polymorphism rs3935309 - FAM86C1 Q9NVL1 VAR_062211 p.Pro135Leu Polymorphism rs57679800 - FAM90A1 Q86YD7 VAR_057778 p.Ala234Glu Polymorphism rs9668582 - FAM90A1 Q86YD7 VAR_060154 p.Arg343Ser Polymorphism rs9668475 - FAM90A1 Q86YD7 VAR_060155 p.Thr410Ala Polymorphism rs11044098 - FAM90A1 Q86YD7 VAR_060293 p.Arg123Gly Polymorphism rs9738115 - FAM90A1 Q86YD7 VAR_060294 p.Pro334Leu Polymorphism rs17855656 - FAM90A1 Q86YD7 VAR_060295 p.Thr348Ile Polymorphism rs9668474 - FAM91A1 Q658Y4 VAR_057768 p.Ile704Val Polymorphism rs6470187 - FAM92A1 A1XBS5 VAR_062190 p.Arg222Gln Polymorphism rs36117362 - FAM92B Q6ZTR7 VAR_043035 p.Glu22Lys Polymorphism rs9934891 - FAM98C Q17RN3 VAR_049030 p.Thr240Lys Polymorphism rs3745962 - FAN1 Q9Y2M0 VAR_037167 p.Gly233Glu Polymorphism rs4779794 - FANCA O15360 VAR_009637 p.Val6Asp Polymorphism rs1800282 - FANCA O15360 VAR_009638 p.Asn8Lys Unclassified - - FANCA O15360 VAR_009639 p.Ala181Val Disease rs17232246 Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009640 p.Leu244Phe Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009641 p.Asp252Gly Disease rs17225943 Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009642 p.Arg435Cys Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009643 p.His492Arg Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009644 p.Gly501Ser Polymorphism rs2239359 - FANCA O15360 VAR_009645 p.Pro739Leu Polymorphism rs45441106 - FANCA O15360 VAR_009646 p.Gly809Asp Polymorphism rs7195066 - FANCA O15360 VAR_009647 p.Leu817Pro Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009648 p.Leu845Pro Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009649 p.Arg1055Leu Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009650 p.His1110Pro Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009651 p.Arg1117Gly Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009652 p.Gln1128Glu Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009653 p.Thr1131Ala Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009655 p.Val1287Ile Polymorphism rs17227354 - FANCA O15360 VAR_009656 p.Trp1302Arg Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_009657 p.Thr1328Ala Polymorphism rs9282681 - FANCA O15360 VAR_009658 p.His1417Asp Disease rs17227403 Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_017496 p.Thr266Ala Polymorphism rs7190823 - FANCA O15360 VAR_017497 p.Asp598Asn Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_017498 p.Ser858Arg Disease rs17233141 Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_017499 p.Arg1055Trp Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_017500 p.Leu1082Pro Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_017501 p.Ser1088Phe Disease rs17233497 Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_017502 p.Phe1262Leu Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_017503 p.Asp1359Tyr Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_017504 p.Met1360Ile Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_017505 p.Pro1324Leu Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_038012 p.Leu210Arg Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_038013 p.Leu660Pro Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_038014 p.Val761Glu Polymorphism - - FANCA O15360 VAR_038015 p.Tyr843Asp Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_038016 p.Gln869Pro Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_038017 p.Arg951Gln Polymorphism - - FANCA O15360 VAR_038018 p.Arg951Trp Polymorphism - - FANCA O15360 VAR_038019 p.Leu1249Pro Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_038020 p.Ala1346Thr Unclassified rs17227396 - FANCA O15360 VAR_038021 p.Arg1400His Disease - Fanconi anemia (FA) [MIM:227650] FANCA O15360 VAR_050982 p.Thr131Ser Polymorphism rs34491278 - FANCA O15360 VAR_050983 p.Ser176Phe Polymorphism rs35566151 - FANCA O15360 VAR_050984 p.Ala277Gly Polymorphism rs35880318 - FANCA O15360 VAR_050985 p.Gln286Arg Polymorphism rs13336566 - FANCA O15360 VAR_050986 p.Ala412Val Polymorphism rs11646374 - FANCA O15360 VAR_050987 p.Pro643Ala Polymorphism rs17232910 - FANCA O15360 VAR_061649 p.Met717Ile Polymorphism rs1131660 - FANCC Q00597 VAR_005225 p.Ser26Phe Polymorphism rs1800361 - FANCC Q00597 VAR_005226 p.Gly139Glu Polymorphism rs1800362 - FANCC Q00597 VAR_005227 p.Leu190Phe Polymorphism rs1800364 - FANCC Q00597 VAR_005228 p.Asp195Val Polymorphism rs1800365 - FANCC Q00597 VAR_005229 p.Ile312Val Polymorphism rs1800366 - FANCC Q00597 VAR_005230 p.Val449Met Polymorphism rs1800367 - FANCC Q00597 VAR_005231 p.Gln465Arg Polymorphism rs1800368 - FANCC Q00597 VAR_005232 p.Leu496Arg Unclassified - - FANCC Q00597 VAR_005233 p.Leu554Pro Unclassified - - FANCC Q00597 VAR_016339 p.Ile80Thr Polymorphism rs4647419 - FANCD2 Q9BXW9 VAR_022559 p.Ser126Gly Disease - Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646] FANCD2 Q9BXW9 VAR_022560 p.Arg302Trp Disease - Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646] FANCD2 Q9BXW9 VAR_022561 p.Pro714Leu Polymorphism rs3864017 - FANCD2 Q9BXW9 VAR_022562 p.Arg1236His Disease - Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646] FANCD2 Q9BXW9 VAR_025827 p.Lys33Arg Polymorphism rs34691009 - FANCD2 Q9BXW9 VAR_025828 p.Thr61Met Polymorphism rs35110529 - FANCD2 Q9BXW9 VAR_025829 p.Gln65His Polymorphism rs36084488 - FANCD2 Q9BXW9 VAR_025830 p.Ile172Met Polymorphism rs35173688 - FANCD2 Q9BXW9 VAR_025831 p.Thr193Ala Polymorphism rs34936017 - FANCD2 Q9BXW9 VAR_025832 p.Arg328Gln Polymorphism rs35625434 - FANCD2 Q9BXW9 VAR_025833 p.Leu446Val Polymorphism rs34557223 - FANCD2 Q9BXW9 VAR_025834 p.Leu456Arg Polymorphism rs35782247 - FANCD2 Q9BXW9 VAR_025835 p.Gln623Pro Polymorphism rs36070315 - FANCD2 Q9BXW9 VAR_025836 p.Lys865Arg Polymorphism rs35546777 - FANCD2 Q9BXW9 VAR_025837 p.Gly901Val Polymorphism rs35495399 - FANCE Q9HB96 VAR_023372 p.Arg89Leu Polymorphism rs45600543 - FANCE Q9HB96 VAR_023373 p.Ser204Leu Polymorphism rs7761870 - FANCE Q9HB96 VAR_023374 p.Gly340Arg Polymorphism rs45524646 - FANCE Q9HB96 VAR_023375 p.Arg343Gln Polymorphism rs45467798 - FANCE Q9HB96 VAR_023376 p.Ala502Thr Polymorphism rs9462088 - FANCE Q9HB96 VAR_038022 p.Pro184Gln Unclassified - - FANCF Q9NPI8 VAR_022270 p.Pro320Leu Polymorphism rs45451294 - FANCF Q9NPI8 VAR_050988 p.Val295Ile Polymorphism rs7103293 - FANCG O15287 VAR_017495 p.Leu71Pro Disease - Fanconi anemia complementation group G (FANCG) [MIM:614082] FANCG O15287 VAR_020311 p.Thr297Ile Polymorphism rs2237857 - FANCG O15287 VAR_021103 p.Gly294Glu Polymorphism rs17880082 - FANCG O15287 VAR_021104 p.Pro330Ser Polymorphism rs4986940 - FANCG O15287 VAR_021105 p.Ser378Leu Polymorphism rs4986939 - FANCG O15287 VAR_021106 p.Lys430Glu Polymorphism rs17881054 - FANCG O15287 VAR_021107 p.Arg513Gln Polymorphism rs17885240 - FANCG O15287 VAR_021108 p.Ser603Phe Polymorphism rs17878854 - FANCG O15287 VAR_035864 p.Ala607Thr Unclassified - A colorectal cancer sample FANCI Q9NVI1 VAR_027278 p.Gln686Lys Polymorphism rs28378332 - FANCI Q9NVI1 VAR_027279 p.Cys742Ser Polymorphism rs2283432 - FANCI Q9NVI1 VAR_032689 p.Pro55Leu Unclassified - - FANCI Q9NVI1 VAR_032690 p.Ala86Val Polymorphism rs17803620 - FANCI Q9NVI1 VAR_032691 p.His858Tyr Unclassified - - FANCI Q9NVI1 VAR_032692 p.Arg1285Gln Unclassified - - FANCL Q9NW38 VAR_052082 p.Ser144Phe Polymorphism rs36059257 - FANCM Q8IYD8 VAR_023697 p.Ser175Phe Polymorphism rs10138997 - FANCM Q8IYD8 VAR_023698 p.Val878Leu Polymorphism rs1367580 - FANCM Q8IYD8 VAR_023699 p.Pro1812Ala Polymorphism rs3736772 - FANCM Q8IYD8 VAR_061827 p.Ile208Met Polymorphism rs45547534 - FANK1 Q8TC84 VAR_024176 p.Leu329Val Polymorphism rs1666 - FANK1 Q8TC84 VAR_027896 p.Arg46Ser Polymorphism rs17153882 - FANK1 Q8TC84 VAR_048296 p.Pro12Leu Polymorphism rs17153879 - FANK1 Q8TC84 VAR_048297 p.Cys343Phe Polymorphism rs17153976 - FAR1 Q8WVX9 VAR_053800 p.Glu96Lys Polymorphism rs12793516 - FAR2 Q96K12 VAR_053801 p.Phe326Ser Polymorphism rs17400011 - FAR2 Q96K12 VAR_053802 p.Ile329Thr Polymorphism rs17404064 - FARP1 Q9Y4F1 VAR_035851 p.Arg714Leu Unclassified - A breast cancer sample FARP1 Q9Y4F1 VAR_048362 p.Pro8Leu Polymorphism rs9300466 - FARP2 O94887 VAR_048363 p.Lys185Asn Polymorphism rs16843643 - FARP2 O94887 VAR_048364 p.Thr260Ile Polymorphism rs757978 - FARP2 O94887 VAR_048365 p.Val643Ile Polymorphism rs41342147 - FARS2 O95363 VAR_052642 p.Ser57Cys Polymorphism rs34382405 - FARS2 O95363 VAR_052643 p.Asn280Ser Polymorphism rs11243011 - FARSA Q9Y285 VAR_052641 p.Gln341Arg Polymorphism rs35087277 - FASLG P48023 VAR_052583 p.Tyr189Ser Polymorphism rs12079514 - FASN P49327 VAR_055479 p.Val1483Ile Polymorphism rs2228305 - FASN P49327 VAR_055480 p.Arg1694His Polymorphism rs2229424 - FASN P49327 VAR_055481 p.Ile1888Val Polymorphism rs2228307 - FAS P25445 VAR_013416 p.Ala25Thr Unclassified - Non-Hodgkin lymphoma FAS P25445 VAR_013417 p.Thr28Ala Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013418 p.Cys82Arg Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013419 p.Arg121Trp Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013420 p.Leu180Phe Unclassified - Non-Hodgkin lymphoma FAS P25445 VAR_013421 p.Pro183Leu Unclassified - Non-Hodgkin lymphoma FAS P25445 VAR_013422 p.Thr198Ile Unclassified - Non-Hodgkin lymphoma FAS P25445 VAR_013423 p.Tyr232Cys Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013424 p.Thr241Lys Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013425 p.Thr241Pro Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013426 p.Arg250Pro Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013427 p.Arg250Gln Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013428 p.Ala257Asp Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013429 p.Asp260Gly Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013430 p.Asp260Tyr Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013431 p.Asp260Val Disease rs28929498 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013432 p.Asn264Lys Unclassified - Non-Hodgkin lymphoma FAS P25445 VAR_013433 p.Thr270Ile Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013434 p.Glu272Gly Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013435 p.Glu272Lys Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_013436 p.Leu278Phe Unclassified - Non-Hodgkin lymphoma FAS P25445 VAR_013437 p.Lys299Asn Unclassified - Non-Hodgkin lymphoma FAS P25445 VAR_013438 p.Ile310Ser Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_018321 p.Asn118Ser Unclassified - Squamous cell carcinoma FAS P25445 VAR_018322 p.Cys178Arg Unclassified - Squamous cell carcinoma FAS P25445 VAR_018323 p.Asn255Asp Unclassified - Squamous cell carcinoma FAS P25445 VAR_020008 p.Ala16Thr Polymorphism rs3218619 - FAS P25445 VAR_020009 p.Thr122Ile Polymorphism rs3218614 - FAS P25445 VAR_020942 p.Thr305Ile Polymorphism rs3218611 - FAS P25445 VAR_052347 p.Ile184Val Polymorphism rs28362322 - FAS P25445 VAR_058910 p.Ile262Ser Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065128 p.Val249Leu Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065129 p.Gly253Asp Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065130 p.Gly253Ser Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065131 p.Ile259Arg Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FAS P25445 VAR_065132 p.Thr270Lys Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] FASTKD1 Q53R41 VAR_031806 p.Glu384Gln Polymorphism rs12618227 - FASTKD1 Q53R41 VAR_031807 p.Cys446Gly Polymorphism rs35106223 - FASTKD1 Q53R41 VAR_031808 p.Met467Val Polymorphism rs2253680 - FASTKD2 Q9NYY8 VAR_053889 p.Ser15Asn Polymorphism rs3762568 - FASTKD2 Q9NYY8 VAR_053890 p.Val445Glu Polymorphism rs13003768 - FASTKD3 Q14CZ7 VAR_031809 p.Lys56Arg Polymorphism rs2966952 - FASTKD3 Q14CZ7 VAR_031810 p.Glu459Gly Polymorphism rs16879259 - FASTKD3 Q14CZ7 VAR_036161 p.Leu22Val Unclassified - A breast cancer sample FASTKD3 Q14CZ7 VAR_057769 p.Leu3Phe Polymorphism rs3733782 - FASTKD5 Q7L8L6 VAR_053891 p.Arg256Cys Polymorphism rs3746700 - FASTKD5 Q7L8L6 VAR_053892 p.Ile288Thr Polymorphism rs2422857 - FASTKD5 Q7L8L6 VAR_053893 p.Ile377Val Polymorphism rs3746699 - FASTK Q14296 VAR_021970 p.Ala436Val Polymorphism rs2288648 - FASTK Q14296 VAR_042200 p.Val424Leu Unclassified - A lung adenocarcinoma sample FAT1 Q14517 VAR_055590 p.Ala131Val Polymorphism rs3733415 - FAT1 Q14517 VAR_055591 p.Asn1330Ser Polymorphism rs874111 - FAT1 Q14517 VAR_055592 p.Ala1564Thr Polymorphism rs2304867 - FAT1 Q14517 VAR_055593 p.Asn1605Asp Polymorphism rs6836935 - FAT1 Q14517 VAR_055594 p.Pro3800His Polymorphism rs11731738 - FAT2 Q9NYQ8 VAR_055595 p.Gly201Ala Polymorphism rs11739693 - FAT2 Q9NYQ8 VAR_055596 p.Pro248Ser Polymorphism rs3734061 - FAT2 Q9NYQ8 VAR_055597 p.Arg574Cys Polymorphism rs1432862 - FAT2 Q9NYQ8 VAR_055598 p.Phe686Ser Polymorphism rs9324700 - FAT2 Q9NYQ8 VAR_055599 p.Arg992Gln Polymorphism rs3734056 - FAT2 Q9NYQ8 VAR_055600 p.Gly1004Ser Polymorphism rs3734055 - FAT2 Q9NYQ8 VAR_055601 p.Pro1164Leu Polymorphism rs2304053 - FAT2 Q9NYQ8 VAR_055602 p.Val1462Met Polymorphism rs2278371 - FAT2 Q9NYQ8 VAR_055603 p.Gly1515Ser Polymorphism rs2278370 - FAT2 Q9NYQ8 VAR_055604 p.Gly1571Ser Polymorphism rs10044879 - FAT2 Q9NYQ8 VAR_055605 p.Arg1895Trp Polymorphism rs34464977 - FAT2 Q9NYQ8 VAR_055606 p.Gly2054Ala Polymorphism rs34493925 - FAT2 Q9NYQ8 VAR_055607 p.Ala2907Thr Polymorphism rs3734053 - FAT2 Q9NYQ8 VAR_055608 p.Arg3318Gln Polymorphism rs7718054 - FAT2 Q9NYQ8 VAR_055609 p.Arg3318Trp Polymorphism rs2304024 - FAT2 Q9NYQ8 VAR_055610 p.Leu3514Ser Polymorphism rs2053028 - FAT2 Q9NYQ8 VAR_055611 p.Met3631Ile Polymorphism rs6650971 - FAT2 Q9NYQ8 VAR_055612 p.Ala3664Gly Polymorphism rs35963695 - FAT2 Q9NYQ8 VAR_055613 p.Gln3953His Polymorphism rs2304029 - FAT2 Q9NYQ8 VAR_055614 p.Pro4117Leu Polymorphism rs1105168 - FAT2 Q9NYQ8 VAR_058286 p.Leu1295Pro Polymorphism rs35640822 - FAT2 Q9NYQ8 VAR_061076 p.Tyr1181His Polymorphism rs6872614 - FAT2 Q9NYQ8 VAR_061077 p.Phe2428Ser Polymorphism rs6892335 - FAT3 Q8TDW7 VAR_039851 p.Ser412Phe Polymorphism rs10830902 - FAT3 Q8TDW7 VAR_039852 p.Ile462Val Polymorphism rs16917409 - FAT3 Q8TDW7 VAR_039853 p.Val1167Gly Polymorphism rs11821058 - FAT3 Q8TDW7 VAR_039854 p.Gln1726Arg Polymorphism rs7949157 - FAT3 Q8TDW7 VAR_039855 p.Asn2293Ser Polymorphism rs16918105 - FAT3 Q8TDW7 VAR_039856 p.Val2622Phe Polymorphism rs17615477 - FAT3 Q8TDW7 VAR_039857 p.Ile2755Val Polymorphism rs3847531 - FAT3 Q8TDW7 VAR_039858 p.Val3518Leu Polymorphism rs10765565 - FAT3 Q8TDW7 VAR_039859 p.Ser3812Gly Polymorphism rs4753069 - FAT4 Q6V0I7 VAR_039860 p.Asp2826Asn Polymorphism rs12508222 - FAT4 Q6V0I7 VAR_039861 p.Gly3524Asp Polymorphism rs1567047 - FAT4 Q6V0I7 VAR_039862 p.Lys3828Glu Polymorphism rs17009684 - FAT4 Q6V0I7 VAR_039863 p.Ser3873Asn Polymorphism rs12650153 - FAT4 Q6V0I7 VAR_039864 p.Glu4374Lys Polymorphism rs11942361 - FAT4 Q6V0I7 VAR_039865 p.Pro4972Ser Polymorphism rs1014867 - FAT4 Q6V0I7 VAR_039866 p.Ala4977Thr Polymorphism rs17009858 - FAT4 Q6V0I7 VAR_048580 p.Gln453Leu Polymorphism rs6847454 - FAT4 Q6V0I7 VAR_048581 p.Ala807Val Polymorphism rs1039808 - FATE1 Q969F0 VAR_016917 p.Ala10Val Polymorphism rs3810715 - FATE1 Q969F0 VAR_016918 p.Ile34Thr Unclassified - - FATE1 Q969F0 VAR_016919 p.Ser125Arg Unclassified - - FAU P35544 VAR_019644 p.Thr53Ile Polymorphism rs13807 - FAU P62861 VAR_019643 p.Val19Met Polymorphism - - FBF1 Q8TES7 VAR_034659 p.Gly65Val Polymorphism rs1135889 - FBF1 Q8TES7 VAR_034660 p.Arg151Gly Polymorphism rs2305913 - FBF1 Q8TES7 VAR_034661 p.Pro371Ser Polymorphism rs7218738 - FBF1 Q8TES7 VAR_034662 p.Cys574Ser Polymorphism rs7213548 - FBLIM1 Q8WUP2 VAR_022842 p.Ser191Phe Polymorphism rs10927851 - FBLIM1 Q8WUP2 VAR_050145 p.Arg39Cys Polymorphism rs34375304 - FBLN1 P23142 VAR_015650 p.Gln141Arg Polymorphism rs136730 - FBLN1 P23142 VAR_055720 p.Cys509Ser Polymorphism rs1802787 - FBLN1 P23142 VAR_055721 p.His695Arg Polymorphism rs13268 - FBLN2 P98095 VAR_055722 p.Gly1114Arg Polymorphism rs1061375 - FBLN2 P98095 VAR_059266 p.Ser361Gly Polymorphism rs3732666 - FBLN2 P98095 VAR_059267 p.Asn387Thr Polymorphism rs3796318 - FBLN2 P98095 VAR_059268 p.Thr854Ala Polymorphism rs9843344 - FBLN2 P98095 VAR_061159 p.Ile45Val Polymorphism rs60850813 - FBLN2 P98095 VAR_061160 p.His144Arg Polymorphism rs28587534 - FBLN5 Q9UBX5 VAR_017153 p.Ser227Pro Disease rs28939370 Cutis laxa, autosomal recessive, type 1A (ARCL1A) [MIM:219100] FBLN5 Q9UBX5 VAR_019814 p.Val60Leu Disease rs28939371 Age-related macular degeneration type 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019815 p.Arg71Gln Disease rs28939372 Age-related macular degeneration type 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019816 p.Pro87Ser Disease rs28939373 Age-related macular degeneration type 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019817 p.Ile169Thr Disease rs28939072 Age-related macular degeneration type 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019818 p.Arg351Trp Disease rs28939073 Age-related macular degeneration type 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019819 p.Ala363Thr Disease - Age-related macular degeneration type 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_019820 p.Gly412Glu Disease - Age-related macular degeneration type 3 (ARMD3) [MIM:608895] FBLN5 Q9UBX5 VAR_026986 p.Asp364Tyr Polymorphism rs1802492 - FBLN7 Q53RD9 VAR_037689 p.Val119Met Polymorphism rs35586251 - FBN1 P35555 VAR_002276 p.Cys111Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002277 p.Arg122Cys Disease rs137854467 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002278 p.Cys129Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002279 p.Cys166Phe Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002280 p.Cys166Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002281 p.Trp217Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002282 p.Cys476Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002283 p.Asp490Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002284 p.Arg545Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002285 p.Asn548Ile Disease rs137854462 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002286 p.Cys587Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002287 p.Arg627Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002288 p.Cys661Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002289 p.Ala705Thr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002290 p.Cys711Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002291 p.Asp723Ala Disease rs137854463 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002292 p.Tyr746Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002293 p.Cys750Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002294 p.Cys862Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002295 p.Cys926Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002296 p.Val984Ile Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002297 p.Cys996Arg Disease rs140592 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002298 p.Gly1013Arg Disease rs140593 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002299 p.Lys1023Asn Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002300 p.Lys1043Arg Disease rs137854472 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002301 p.Ile1048Thr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002303 p.Cys1053Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002304 p.Cys1055Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002306 p.Asp1072Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002307 p.Glu1073Lys Disease rs137854478 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002308 p.Cys1074Arg Disease rs137854465 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002309 p.Cys1086Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002310 p.Cys1117Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002311 p.Cys1117Tyr Disease rs137854470 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002312 p.Gly1127Ser Polymorphism rs137854468 - FBN1 P35555 VAR_002313 p.Asn1131Tyr Disease rs137854473 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002314 p.Arg1137Pro Disease rs137854456 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002315 p.Pro1148Ala Polymorphism rs140598 - FBN1 P35555 VAR_002316 p.Cys1153Tyr Disease rs140599 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002317 p.Asp1155Asn Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002318 p.Arg1170His Disease rs137854475 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002319 p.Cys1171Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002320 p.Asn1173Lys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002321 p.Cys1223Tyr Disease rs137854469 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002321 p.Cys1223Tyr Disease rs137854469 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] FBN1 P35555 VAR_002322 p.Cys1242Tyr Disease rs137854471 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002323 p.Cys1249Ser Disease rs137854458 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002324 p.Asn1382Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002325 p.Asp1404Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002326 p.Cys1513Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002327 p.Cys1589Phe Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002328 p.Cys1610Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002329 p.Cys1663Arg Disease rs137854459 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002330 p.Pro1837Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002331 p.Asn1893Lys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002332 p.Cys1928Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002333 p.Cys2099Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002334 p.Cys2111Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002335 p.Asp2127Glu Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002336 p.Asn2144Ser Disease rs137854461 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002337 p.Cys2151Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002338 p.Cys2221Ser Disease rs137854460 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002339 p.Cys2258Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002340 p.Arg2282Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002341 p.Cys2307Ser Disease rs137854457 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002342 p.Glu2447Lys Disease rs137854464 Ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_002343 p.Cys2489Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002344 p.Cys2511Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002345 p.His2623Pro Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002346 p.Gly2627Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002347 p.Arg2680Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_002348 p.Arg2726Trp Disease rs61746008 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_010776 p.Cys504Phe Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_010777 p.Cys1129Tyr Disease rs137854482 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_010778 p.Tyr1261Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_010779 p.Cys1833Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_010780 p.Cys2142Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_014663 p.Ala27Thr Polymorphism rs25397 - FBN1 P35555 VAR_017967 p.Arg62Cys Disease rs25403 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017968 p.Cys89Phe Disease rs112660651 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017969 p.Arg114Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017970 p.Ser115Cys Disease - Ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_017971 p.Cys154Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017972 p.Arg240Cys Disease rs137854480 Ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_017972 p.Arg240Cys Disease rs137854480 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017973 p.Trp366Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017974 p.Gly560Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017975 p.Cys570Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017976 p.Gly592Asp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017977 p.Cys596Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017978 p.Cys598Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017979 p.Cys652Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017980 p.Asp654Asn Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017981 p.Cys661Tyr Disease - Ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_017982 p.Ser681Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017983 p.Cys683Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017984 p.Cys685Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017985 p.Asp723Val Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017986 p.Cys734Phe Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017987 p.Cys748Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017988 p.Cys776Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017989 p.Cys776Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017990 p.Cys781Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017991 p.Cys816Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017992 p.Cys890Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017993 p.Cys908Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017994 p.Glu913Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017995 p.Cys921Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017996 p.Gly985Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017997 p.Cys1044Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017998 p.Cys1055Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_017999 p.Cys1055Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018000 p.Tyr1101Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018001 p.Val1128Ile Unclassified - - FBN1 P35555 VAR_018002 p.Glu1200Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018003 p.Glu1325Gln Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018004 p.Ala1337Pro Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018005 p.Cys1339Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018006 p.Glu1366Lys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018007 p.Cys1374Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018008 p.Cys1389Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018010 p.Pro1424Ala Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018011 p.Cys1429Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018012 p.Arg1530Cys Polymorphism rs111401431 - FBN1 P35555 VAR_018013 p.Cys1564Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018015 p.Cys1770Phe Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018016 p.Arg1790Pro Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018017 p.Cys1791Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018018 p.Cys1793Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018019 p.Gly1796Glu Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018020 p.Cys1806Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018021 p.Cys1835Tyr Disease rs111929350 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018022 p.Ile1909Thr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018023 p.Arg1915Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018025 p.Cys1971Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018026 p.Cys1977Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018027 p.Cys1998Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018028 p.Thr2101Met Polymorphism - - FBN1 P35555 VAR_018029 p.Cys2111Arg Disease rs363815 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018030 p.Pro2154Arg Disease - Ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_018031 p.Cys2221Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018032 p.Asn2223His Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018033 p.Ile2269Thr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018034 p.Arg2335Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018035 p.Cys2339Tyr Disease - Ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:129600] FBN1 P35555 VAR_018036 p.Cys2406Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018037 p.Cys2442Trp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018038 p.Tyr2474Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018039 p.Cys2581Phe Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018040 p.Ile2585Thr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018041 p.Gly2618Arg Disease rs141133182 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018042 p.Asn2624Lys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018043 p.Cys2652Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018044 p.Gly2668Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018319 p.Gly985Glu Disease rs137854477 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_018320 p.Cys1265Arg Disease rs137854474 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023859 p.Tyr20Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023860 p.Cys123Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023861 p.Cys177Arg Disease rs363853 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023862 p.Cys224Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023863 p.Arg439Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023865 p.Cys541Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023866 p.Cys628Lys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023868 p.Tyr635Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023869 p.Arg636Ile Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023870 p.Cys781Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023871 p.Cys832Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023872 p.Cys890Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023873 p.Gly1058Asp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023874 p.Asp1113Val Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023875 p.Cys1153Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023877 p.Tyr1219Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023878 p.Tyr1261Asp Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023879 p.Cys1278Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023880 p.Cys1284Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023881 p.Cys1333Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023882 p.Cys1402Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023883 p.Pro1424Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023884 p.Gly1475Glu Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023885 p.Gly1475Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023886 p.Cys1564Phe Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023887 p.Met1576Thr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023888 p.Cys1631Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023889 p.Cys1663Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023890 p.Cys1791Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023891 p.Cys1806Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023892 p.Cys1876Tyr Disease rs112728248 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023893 p.Thr1887Ile Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023894 p.Cys1895Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023895 p.Cys1900Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023896 p.Cys1928Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023897 p.Cys1928Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023898 p.Cys2038Tyr Disease rs363804 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023899 p.Cys2085Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023900 p.Ala2160Pro Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023901 p.Cys2221Phe Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023902 p.Cys2251Arg Disease rs112836174 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023903 p.Ala2385Thr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023904 p.Cys2500Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023905 p.Cys2500Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023906 p.Cys2535Trp Disease rs113544411 Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023907 p.Gly2536Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023908 p.Glu2570Lys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023909 p.Cys2571Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023910 p.Cys2592Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023911 p.Cys2605Arg Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023912 p.Cys2605Tyr Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023913 p.Glu2610Lys Unclassified rs111984349 - FBN1 P35555 VAR_023914 p.Tyr2629Cys Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_023915 p.Cys2663Ser Disease - Marfan syndrome (MFS) [MIM:154700] FBN1 P35555 VAR_055723 p.His133Gln Polymorphism rs363850 - FBN1 P35555 VAR_055724 p.Ile329Thr Polymorphism rs12324002 - FBN1 P35555 VAR_055725 p.Gly363Ser Polymorphism rs363855 - FBN1 P35555 VAR_055726 p.Ile1048Val Polymorphism rs2229324 - FBN1 P35555 VAR_055727 p.Asp1113Gly Polymorphism rs140597 - FBN1 P35555 VAR_055728 p.Asn1282Ser Polymorphism rs140647 - FBN1 P35555 VAR_055729 p.Cys1672Phe Polymorphism rs140627 - FBN1 P35555 VAR_055730 p.Val2018Ile Polymorphism rs363802 - FBN1 P35555 VAR_055731 p.Cys2053Phe Polymorphism rs363805 - FBN1 P35555 VAR_055732 p.Tyr2113Phe Polymorphism rs363816 - FBN1 P35555 VAR_055733 p.Cys2170Phe Polymorphism rs363821 - FBN1 P35555 VAR_055734 p.Pro2278Ser Polymorphism rs363835 - FBN1 P35555 VAR_055735 p.Asp2329Glu Polymorphism rs363831 - FBN1 P35555 VAR_058090 p.Cys472Tyr Polymorphism rs4775765 - FBN1 P35555 VAR_064046 p.Cys1564Ser Disease - Stiff skin syndrome (SSKS) [MIM:184900] FBN1 P35555 VAR_064047 p.Trp1570Cys Disease - Stiff skin syndrome (SSKS) [MIM:184900] FBN1 P35555 VAR_064048 p.Cys1577Gly Disease - Stiff skin syndrome (SSKS) [MIM:184900] FBN1 P35555 VAR_064049 p.Gly1594Asp Disease - Stiff skin syndrome (SSKS) [MIM:184900] FBN1 P35555 VAR_064503 p.Cys1068Gly Disease - Marfan syndrome (MFS) [MIM:154700] FBN2 P35556 VAR_002349 p.Val965Ile Polymorphism rs154001 - FBN2 P35556 VAR_002350 p.Cys1253Tyr Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_002351 p.Cys1434Ser Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_010739 p.Asp1115His Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_010740 p.Cys1142Phe Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_010741 p.Cys1253Trp Disease rs28931602 Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_014664 p.Ser2771Pro Polymorphism rs1801170 - FBN2 P35556 VAR_015851 p.Glu391Lys Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_016143 p.Pro2428Thr Polymorphism rs1801169 - FBN2 P35556 VAR_054979 p.Thr594Ser Polymorphism - - FBN2 P35556 VAR_054980 p.Arg681His Polymorphism - - FBN2 P35556 VAR_054981 p.Gly1057Asp Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_054982 p.Ile1093Thr Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_054983 p.Gly1179Cys Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_054984 p.Cys1198Tyr Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_054985 p.Cys1240Arg Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_054986 p.Cys1257Trp Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_054987 p.Cys1268Arg Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_054988 p.Trp1772Gly Polymorphism - - FBN2 P35556 VAR_054989 p.Phe2266Leu Polymorphism - - FBN2 P35556 VAR_054990 p.Leu2581Ser Polymorphism rs2291628 - FBN2 P35556 VAR_055415 p.Thr2278Met Polymorphism rs2307109 - FBN2 P35556 VAR_055416 p.Met2311Val Polymorphism rs32209 - FBN2 P35556 VAR_055417 p.Ser2580Leu Polymorphism rs2291628 - FBN2 P35556 VAR_058364 p.Gly754Ser Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058365 p.Asn1091Ser Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058366 p.Ser1122Pro Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058367 p.Cys1142Arg Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058368 p.Tyr1146Cys Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058369 p.Cys1156Phe Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058370 p.Glu1161Lys Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058371 p.Cys1246Phe Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058372 p.Cys1384Phe Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058373 p.Cys1384Tyr Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058374 p.Asp1408Asn Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_058375 p.Cys1425Arg Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050] FBN2 P35556 VAR_064705 p.Glu2062Val Unclassified - - FBN3 Q75N90 VAR_019493 p.Gly119Ala Polymorphism rs3813773 - FBN3 Q75N90 VAR_019494 p.Arg473Gln Polymorphism rs35277492 - FBN3 Q75N90 VAR_019495 p.Asp662Asn Polymorphism rs4804271 - FBN3 Q75N90 VAR_019496 p.Arg935Leu Polymorphism - - FBN3 Q75N90 VAR_019497 p.Val938Phe Polymorphism - - FBN3 Q75N90 VAR_019498 p.Arg1083Trp Polymorphism rs35579498 - FBN3 Q75N90 VAR_019499 p.Ser1293Asn Polymorphism rs4804063 - FBN3 Q75N90 VAR_019500 p.Val1326Ile Polymorphism rs12975322 - FBN3 Q75N90 VAR_019501 p.Gly1614Ser Polymorphism rs33967815 - FBN3 Q75N90 VAR_019502 p.Arg1806Gln Polymorphism rs3829817 - FBN3 Q75N90 VAR_019503 p.Asn1869Lys Polymorphism rs12150963 - FBN3 Q75N90 VAR_019504 p.Leu1904Pro Polymorphism rs12608849 - FBN3 Q75N90 VAR_019505 p.Pro1958His Polymorphism rs7245429 - FBN3 Q75N90 VAR_019506 p.Glu2610Asp Polymorphism rs7257948 - FBN3 Q75N90 VAR_055736 p.Pro329Leu Polymorphism rs7246376 - FBN3 Q75N90 VAR_055737 p.Met371Ile Polymorphism rs35999680 - FBN3 Q75N90 VAR_055738 p.Val542Ile Polymorphism rs36124795 - FBN3 Q75N90 VAR_055739 p.Asp868Asn Polymorphism rs35025963 - FBN3 Q75N90 VAR_055740 p.Gln1209Arg Polymorphism rs34684510 - FBN3 Q75N90 VAR_055741 p.Ser1293Gly Polymorphism rs4804063 - FBN3 Q75N90 VAR_055742 p.Asn1431Ile Polymorphism rs17160194 - FBN3 Q75N90 VAR_055743 p.Glu1850Lys Polymorphism rs10404519 - FBN3 Q75N90 VAR_055744 p.Leu1904Phe Polymorphism rs12608849 - FBN3 Q75N90 VAR_055745 p.Thr1939Asn Polymorphism rs7245558 - FBN3 Q75N90 VAR_055746 p.His1966Asp Polymorphism rs34167077 - FBN3 Q75N90 VAR_055747 p.Asn2005Thr Polymorphism rs17202741 - FBN3 Q75N90 VAR_055748 p.Ser2314Asn Polymorphism rs17160151 - FBN3 Q75N90 VAR_055749 p.Arg2471His Polymorphism rs3848570 - FBN3 Q75N90 VAR_055750 p.His2540Gln Polymorphism rs35477781 - FBN3 Q75N90 VAR_055751 p.Val2594Ile Polymorphism rs35318692 - FBP1 P09467 VAR_002380 p.Gly164Ser Disease - Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700] FBP1 P09467 VAR_002381 p.Ala177Asp Disease - Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700] FBP1 P09467 VAR_002382 p.Val325Ala Polymorphism - - FBP1 P09467 VAR_022212 p.Arg218Lys Polymorphism rs1769259 - FBP1 P09467 VAR_022213 p.Phe233Ile Polymorphism rs2297085 - FBP1 P09467 VAR_022214 p.Arg255Leu Polymorphism rs28369761 - FBP1 P09467 VAR_038812 p.Phe194Ser Disease - Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700] FBP1 P09467 VAR_038813 p.Pro284Arg Disease - Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700] FBP2 O00757 VAR_024448 p.Val86Leu Polymorphism rs573212 - FBRSL1 Q9HCM7 VAR_039390 p.Leu367Pro Polymorphism rs3751315 - FBXL12 Q9NXK8 VAR_064712 p.Leu63His Unclassified - - FBXL13 Q8NEE6 VAR_021480 p.Ile74Met Polymorphism rs7805950 - FBXL13 Q8NEE6 VAR_031426 p.Gly313Ala Polymorphism rs17135923 - FBXL13 Q8NEE6 VAR_031427 p.Ile535Val Polymorphism rs17135873 - FBXL13 Q8NEE6 VAR_031428 p.Tyr565Cys Polymorphism rs17136118 - FBXL13 Q8NEE6 VAR_031429 p.Asp692Gly Polymorphism rs17852944 - FBXL14 Q8N1E6 VAR_049033 p.Leu220Val Polymorphism rs35571553 - FBXL16 Q8N461 VAR_028163 p.Leu429Pro Polymorphism rs17855603 - FBXL18 Q96ME1 VAR_055800 p.Asn552Lys Polymorphism rs33941092 - FBXL21 Q9UKT6 VAR_049034 p.Phe76Leu Polymorphism rs7705168 - FBXL21 Q9UKT6 VAR_049035 p.Pro209Leu Polymorphism rs40986 - FBXL22 Q6P050 VAR_033940 p.Val109Leu Polymorphism rs8035931 - FBXL2 Q9UKC9 VAR_036071 p.Val226Met Unclassified - A colorectal cancer sample FBXO10 Q9UK96 VAR_055801 p.His212Asn Polymorphism rs7044561 - FBXO11 Q86XK2 VAR_024441 p.Thr126Ser Polymorphism rs17036993 - FBXO15 Q8NCQ5 VAR_049040 p.Tyr496His Polymorphism rs35815390 - FBXO16 Q8IX29 VAR_020409 p.Arg75Gln Polymorphism rs3735726 - FBXO16 Q8IX29 VAR_024442 p.Met254Ile Polymorphism rs1390963 - FBXO16 Q8IX29 VAR_049041 p.Thr255Asn Polymorphism rs7016831 - FBXO21 O94952 VAR_047919 p.Asn180Thr Polymorphism rs11556202 - FBXO24 O75426 VAR_049042 p.Arg302His Polymorphism rs7801492 - FBXO25 Q8TCJ0 VAR_049043 p.Asn36Asp Polymorphism rs17665340 - FBXO25 Q8TCJ0 VAR_061167 p.Arg38His Polymorphism rs10090550 - FBXO28 Q9NVF7 VAR_064713 p.Pro345His Unclassified - - FBXO2 Q9UK22 VAR_049036 p.Lys118Thr Polymorphism rs9614 - FBXO30 Q8TB52 VAR_020410 p.His583Gln Polymorphism rs3811102 - FBXO30 Q8TB52 VAR_024443 p.Val375Met Polymorphism rs9373475 - FBXO30 Q8TB52 VAR_036072 p.Ser8Cys Unclassified - A colorectal cancer sample FBXO30 Q8TB52 VAR_049044 p.Ser382Cys Polymorphism rs17075385 - FBXO32 Q969P5 VAR_049045 p.Asn56Ser Polymorphism rs6988591 - FBXO32 Q969P5 VAR_049046 p.Gly89Ala Polymorphism rs11786471 - FBXO34 Q9NWN3 VAR_021489 p.Ile470Asn Polymorphism rs1045002 - FBXO34 Q9NWN3 VAR_021490 p.Leu533Pro Polymorphism rs3742569 - FBXO34 Q9NWN3 VAR_049047 p.Val432Ala Polymorphism rs35070799 - FBXO34 Q9NWN3 VAR_049048 p.Gly704Val Polymorphism rs10138395 - FBXO36 Q8NEA4 VAR_045626 p.Leu86Phe Polymorphism rs1035834 - FBXO38 Q6PIJ6 VAR_028099 p.Ser592Pro Polymorphism rs10043775 - FBXO38 Q6PIJ6 VAR_049049 p.Ala894Thr Polymorphism rs11949133 - FBXO39 Q8N4B4 VAR_024444 p.Pro10Ser Polymorphism rs4796555 - FBXO39 Q8N4B4 VAR_024445 p.Leu231Phe Polymorphism rs1509123 - FBXO39 Q8N4B4 VAR_024446 p.Ile363Met Polymorphism rs7213731 - FBXO39 Q8N4B4 VAR_049050 p.Tyr166Cys Polymorphism rs16956264 - FBXO39 Q8N4B4 VAR_049051 p.Ser221Thr Polymorphism rs4143218 - FBXO3 Q9UK99 VAR_049037 p.Val221Ile Polymorphism rs1402954 - FBXO40 Q9UH90 VAR_030005 p.Val87Ala Polymorphism rs4676684 - FBXO42 Q6P3S6 VAR_024447 p.Pro471Ala Polymorphism rs12069239 - FBXO43 Q4G163 VAR_061168 p.Pro139Leu Polymorphism rs2279102 - FBXO43 Q4G163 VAR_061169 p.Pro139Arg Polymorphism rs2279102 - FBXO47 Q5MNV8 VAR_049052 p.Gln209Arg Polymorphism rs9906595 - FBXO48 Q5FWF7 VAR_043466 p.Thr16Ile Polymorphism rs12614904 - FBXO4 Q9UKT5 VAR_063500 p.Ser8Arg Unclassified - Esophagus cancer samples FBXO4 Q9UKT5 VAR_063501 p.Ser12Leu Unclassified - Esophagus cancer sample FBXO4 Q9UKT5 VAR_063502 p.Pro13Ser Unclassified - Esophagus cancer sample FBXO4 Q9UKT5 VAR_063503 p.Leu23Gln Unclassified - Esophagus cancer samples FBXO4 Q9UKT5 VAR_063504 p.Pro76Thr Unclassified - Esophagus cancer samples FBXO5 Q9UKT4 VAR_024440 p.Gln107Glu Polymorphism rs2073260 - FBXO5 Q9UKT4 VAR_049038 p.Leu164Phe Polymorphism rs7763565 - FBXO6 Q9NRD1 VAR_022158 p.Pro201Thr Polymorphism rs2294639 - FBXO6 Q9NRD1 VAR_049039 p.Arg60Gln Polymorphism rs3125818 - FBXO7 Q9Y3I1 VAR_021408 p.Met115Ile Polymorphism rs11107 - FBXO7 Q9Y3I1 VAR_047938 p.Arg378Gly Disease - Parkinson disease type 15 (PARK15) [MIM:260300] FBXO8 Q9NRD0 VAR_036157 p.Leu269Ile Unclassified - A breast cancer sample FBXW10 Q5XX13 VAR_038341 p.Ile23Asn Polymorphism rs11544711 - FBXW10 Q5XX13 VAR_038342 p.Ala821Thr Polymorphism rs1026259 - FBXW10 Q5XX13 VAR_057600 p.Arg372Gly Polymorphism rs7209610 - FBXW12 Q6X9E4 VAR_057601 p.Pro6Leu Polymorphism rs17080138 - FBXW12 Q6X9E4 VAR_057602 p.Arg166Trp Polymorphism rs6442117 - FBXW12 Q6X9E4 VAR_057603 p.Val273Asp Polymorphism rs6784322 - FBXW5 Q969U6 VAR_053393 p.Glu340Lys Polymorphism rs7850438 - FBXW7 Q969H0 VAR_017812 p.Glu115Lys Polymorphism rs6816935 - FBXW7 Q969H0 VAR_017813 p.Arg133Gly Polymorphism rs6842544 - FBXW7 Q969H0 VAR_017814 p.Thr144Arg Polymorphism rs7660281 - FBXW7 Q969H0 VAR_017815 p.Arg465Cys Unclassified - A acute lymphoblastic leukemia cell line FBXW7 Q969H0 VAR_017816 p.Arg505Leu Unclassified - An ovarian cancer cell line FBXW7 Q969H0 VAR_017817 p.Ser668Gly Polymorphism rs7679116 - FBXW7 Q969H0 VAR_033030 p.Glu117Lys Unclassified - A breast cancer sample FBXW7 Q969H0 VAR_035880 p.Arg465His Unclassified - A colorectal cancer sample FBXW7 Q969H0 VAR_035881 p.Ser582Leu Unclassified - A colorectal cancer sample FBXW8 Q8N3Y1 VAR_057597 p.Thr211Ala Polymorphism rs36021180 - FBXW8 Q8N3Y1 VAR_057598 p.Thr536Met Polymorphism rs3741466 - FBXW8 Q8N3Y1 VAR_060326 p.Arg192Gln Polymorphism rs4076700 - FBXW8 Q8N3Y1 VAR_062096 p.Val563Met Polymorphism rs56350562 - FBXW9 Q5XUX1 VAR_057599 p.Arg70Lys Polymorphism rs6511833 - FBXW9 Q5XUX1 VAR_062097 p.Thr219Ala Polymorphism rs10424623 - FCAR P24071 VAR_049996 p.Asp113Asn Polymorphism rs11666735 - FCAR P24071 VAR_049997 p.Ser269Gly Polymorphism rs16986050 - FCER1A P12319 VAR_020091 p.Lys84Arg Polymorphism rs2298804 - FCER1A P12319 VAR_020092 p.Ser101Asn Polymorphism rs2298805 - FCER2 P06734 VAR_035387 p.Arg62Trp Polymorphism rs2228137 - FCER2 P06734 VAR_035388 p.Arg284Gln Polymorphism rs8102872 - FCGBP Q9Y6R7 VAR_028903 p.Val1340Leu Polymorphism rs11083543 - FCGBP Q9Y6R7 VAR_028904 p.Gly1616Val Polymorphism rs7248839 - FCGBP Q9Y6R7 VAR_028905 p.Met1617Val Polymorphism rs7249743 - FCGBP Q9Y6R7 VAR_028906 p.Asn2089Asp Polymorphism rs885723 - FCGBP Q9Y6R7 VAR_028907 p.Glu2646Asp Polymorphism rs2542320 - FCGBP Q9Y6R7 VAR_028908 p.Glu2647Lys Polymorphism rs2542319 - FCGBP Q9Y6R7 VAR_028909 p.Ala2793Val Polymorphism rs2542316 - FCGBP Q9Y6R7 VAR_028910 p.Val2814Ala Polymorphism rs3746009 - FCGBP Q9Y6R7 VAR_028911 p.Gly3264Ser Polymorphism rs6508919 - FCGBP Q9Y6R7 VAR_028912 p.His3920Gln Polymorphism rs2542318 - FCGBP Q9Y6R7 VAR_028913 p.Val4015Ala Polymorphism rs3746009 - FCGBP Q9Y6R7 VAR_028914 p.Gly4095Asp Polymorphism rs1975181 - FCGBP Q9Y6R7 VAR_028915 p.Gly4465Ser Polymorphism rs6508919 - FCGBP Q9Y6R7 VAR_028916 p.Asp4906His Polymorphism rs3746013 - FCGBP Q9Y6R7 VAR_054490 p.Val732Ala Polymorphism rs34181317 - FCGBP Q9Y6R7 VAR_054491 p.Asn770Ser Polymorphism rs34939346 - FCGBP Q9Y6R7 VAR_054492 p.Gly929Arg Polymorphism rs35338934 - FCGBP Q9Y6R7 VAR_054493 p.Val971Met Polymorphism rs35922811 - FCGBP Q9Y6R7 VAR_054494 p.Gly1019Arg Polymorphism rs34254649 - FCGBP Q9Y6R7 VAR_054495 p.Pro1436Leu Polymorphism rs36106401 - FCGBP Q9Y6R7 VAR_054496 p.His1445Asp Polymorphism rs2909229 - FCGBP Q9Y6R7 VAR_054497 p.Thr1524Asn Polymorphism rs34938990 - FCGBP Q9Y6R7 VAR_054498 p.Ala5017Val Polymorphism rs741143 - FCGR1A P12314 VAR_019522 p.Leu105Pro Polymorphism rs619322 - FCGR1C A6NKC4 VAR_042882 p.Pro105Leu Polymorphism rs619322 - FCGR1C A6NKC4 VAR_042883 p.Thr115Met Polymorphism rs619366 - FCGR1C A6NKC4 VAR_042884 p.Lys171Met Polymorphism rs658149 - FCGR1C A6NKC4 VAR_042885 p.His175Arg Polymorphism rs658160 - FCGR2A P12318 VAR_003955 p.His167Arg Polymorphism rs1801274 - FCGR2A P12318 VAR_054857 p.Gln63Arg Polymorphism rs9427398 - FCGR2A P12318 VAR_054858 p.Met140Val Polymorphism rs4986941 - FCGR2A P12318 VAR_054859 p.Ile218Val Polymorphism rs17851834 - FCGR2B P31994 VAR_008798 p.Tyr258Asp Polymorphism - - FCGR2B P31994 VAR_015515 p.Ile232Thr Unclassified - - FCGR2B P31994 VAR_027045 p.Tyr205Phe Polymorphism rs1050499 - FCGR2B P31994 VAR_059430 p.Gln83Pro Polymorphism rs5017567 - FCGR3A P08637 VAR_003960 p.Phe176Val Polymorphism rs396991 - FCGR3A P08637 VAR_008799 p.Leu66Arg Polymorphism rs10127939 - FCGR3A P08637 VAR_008800 p.Leu66His Polymorphism - - FCGR3A P08637 VAR_058398 p.Gly147Asp Polymorphism rs443082 - FCGR3A P08637 VAR_058399 p.Tyr158His Polymorphism rs396716 - FCGR3A P08637 VAR_058400 p.Phe203Ser Polymorphism rs1042206 - FCGR3B O75015 VAR_003956 p.Ser36Arg Polymorphism - - FCGR3B O75015 VAR_003957 p.Asn82Asp Polymorphism - - FCGR3B O75015 VAR_003963 p.Ser65Asn Polymorphism rs448740 - FCGR3B O75015 VAR_003964 p.Ile106Val Polymorphism - - FCGR3B O75015 VAR_008802 p.Ala78Asp Polymorphism rs5030738 - FCHO2 Q0JRZ9 VAR_029636 p.Met371Val Polymorphism rs185435 - FCHSD1 Q86WN1 VAR_030692 p.Asn344Lys Polymorphism rs3749760 - FCHSD1 Q86WN1 VAR_030693 p.Pro681Leu Polymorphism rs32957 - FCN1 O00602 VAR_024450 p.Tyr126His Polymorphism rs17549179 - FCN1 O00602 VAR_036341 p.Tyr175Cys Unclassified - A colorectal cancer sample FCN1 O00602 VAR_061172 p.Arg93Gln Polymorphism rs56345770 - FCN2 Q15485 VAR_036342 p.Pro80Leu Unclassified - A colorectal cancer sample FCN2 Q15485 VAR_049072 p.His113Tyr Polymorphism rs17549179 - FCN2 Q15485 VAR_049073 p.Gly117Ser Polymorphism rs12684476 - FCN2 Q15485 VAR_049074 p.Thr236Met Polymorphism rs17549193 - FCN2 Q15485 VAR_049075 p.Ala258Ser Polymorphism rs7851696 - FCRL1 Q96LA6 VAR_042923 p.Val124Met Polymorphism rs12078586 - FCRL2 Q96LA5 VAR_049873 p.Ile202Asn Polymorphism rs16839100 - FCRL3 Q96P31 VAR_042924 p.Asn28Asp Polymorphism rs7522061 - FCRL3 Q96P31 VAR_042925 p.Leu307Phe Polymorphism rs12041673 - FCRL3 Q96P31 VAR_042926 p.His445Asn Unclassified - A breast cancer sample FCRL3 Q96P31 VAR_042927 p.Pro660Leu Polymorphism rs944627 - FCRL3 Q96P31 VAR_042928 p.Asn721Ser Polymorphism rs2282284 - FCRL4 Q96PJ5 VAR_042929 p.Arg60Gln Polymorphism rs11582663 - FCRL4 Q96PJ5 VAR_042930 p.Asn255Ser Polymorphism rs4561035 - FCRL4 Q96PJ5 VAR_042931 p.Lys457Arg Polymorphism rs2039401 - FCRL4 Q96PJ5 VAR_042932 p.Tyr493Cys Polymorphism rs3811028 - FCRL5 Q96RD9 VAR_025447 p.Tyr267His Polymorphism rs6679793 - FCRL5 Q96RD9 VAR_025448 p.Val269Ile Polymorphism rs12036228 - FCRL5 Q96RD9 VAR_025449 p.Gly418Asp Polymorphism rs2012199 - FCRL5 Q96RD9 VAR_025450 p.Val466Ile Polymorphism rs6427384 - FCRL5 Q96RD9 VAR_035514 p.Ser687Cys Unclassified - A breast cancer sample FCRL5 Q96RD9 VAR_056044 p.Asn427Lys Polymorphism rs16838748 - FCRL5 Q96RD9 VAR_056045 p.Gln457Arg Polymorphism rs34868810 - FCRL6 Q6DN72 VAR_031090 p.Ser427Gly Polymorphism rs4443889 - FCRLA Q7L513 VAR_025646 p.Arg349Gln Polymorphism rs11746 - FDFT1 P37268 VAR_011786 p.Lys45Arg Polymorphism rs11549147 - FDFT1 P37268 VAR_011787 p.Leu392Pro Polymorphism rs1804473 - FDPS P14324 VAR_049644 p.Ile391Val Polymorphism rs17456 - FDPS P14324 VAR_061274 p.Val364Ala Polymorphism rs41314549 - FDXACB1 Q9BRP7 VAR_060321 p.Ile87Asn Polymorphism rs611010 - FDXACB1 Q9BRP7 VAR_060322 p.Thr475Pro Polymorphism rs3168263 - FDXACB1 Q9BRP7 VAR_062165 p.Thr28Ala Polymorphism rs59164893 - FDXR P22570 VAR_004624 p.Arg123Gln Polymorphism rs690514 - FDXR P22570 VAR_025192 p.Arg7Leu Polymorphism rs28365947 - FDXR P22570 VAR_025193 p.Gly213Val Polymorphism rs35692345 - FDXR P22570 VAR_025194 p.Pro248Leu Polymorphism rs35072974 - FDXR P22570 VAR_025195 p.Arg251Trp Polymorphism rs34038065 - FDXR P22570 VAR_025196 p.Arg301Cys Polymorphism rs34118765 - FDXR P22570 VAR_025197 p.Thr345Met Polymorphism rs35660143 - FDXR P22570 VAR_025198 p.Pro352Ser Polymorphism rs35696549 - FDXR P22570 VAR_025199 p.Thr472Ala Polymorphism rs35769464 - FECH P22830 VAR_002383 p.Gly55Cys Disease rs3848519 Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_002384 p.Ile186Thr Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_002385 p.Met267Ile Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_002386 p.His386Pro Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_002387 p.Phe417Ser Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_012028 p.Arg96Gln Polymorphism rs1041951 - FECH P22830 VAR_030553 p.Pro62Arg Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030554 p.Ile71Lys Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030555 p.Gln139Leu Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030556 p.Ser151Pro Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030557 p.Glu178Lys Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030558 p.Leu182Arg Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030559 p.Tyr191His Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030560 p.Pro192Thr Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030561 p.Cys236Tyr Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030562 p.Phe260Leu Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030563 p.Thr283Ile Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030564 p.Met288Lys Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030565 p.Pro334Leu Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030566 p.Val362Gly Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030567 p.Lys379Asn Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030568 p.Cys406Ser Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_030569 p.Cys406Tyr Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FECH P22830 VAR_054629 p.Ser264Leu Disease - Erythropoietic protoporphyria (EPP) [MIM:177000] FEM1A Q9BSK4 VAR_039809 p.His500Tyr Polymorphism - - FEM1C Q96JP0 VAR_039810 p.Asp434Asn Unclassified - A breast cancer sample FEM1C Q96JP0 VAR_039811 p.Asp462Asn Unclassified - A breast cancer sample FER1L4 A9Z1Z3 VAR_045893 p.Lys1179Glu Polymorphism rs1557202 - FER1L4 A9Z1Z3 VAR_045894 p.Asn1183Ser Polymorphism rs11698021 - FER1L4 A9Z1Z3 VAR_045895 p.Val1318Ile Polymorphism rs2277862 - FER1L5 A0AVI2 VAR_059285 p.Ile337Thr Polymorphism rs4907201 - FER1L5 A0AVI2 VAR_059286 p.Thr682Ala Polymorphism rs7599598 - FER1L6-AS Q96M78 VAR_029819 p.Leu92Ser Polymorphism rs13258808 - FER1L6 Q2WGJ9 VAR_039558 p.Asp1110Glu Polymorphism rs7012186 - FERD3L Q96RJ6 VAR_042439 p.Gly36Arg Unclassified - A colorectal cancer sample FERMT1 Q9BQL6 VAR_014398 p.Arg526Lys Polymorphism rs2232074 - FERMT1 Q9BQL6 VAR_014399 p.Ala534Thr Polymorphism rs2232078 - FERMT1 Q9BQL6 VAR_048368 p.Ile160Thr Polymorphism rs16991866 - FERMT1 Q9BQL6 VAR_061035 p.Val241Ala Polymorphism rs55666319 - FER P16591 VAR_006282 p.Leu439Val Polymorphism rs34499946 - FER P16591 VAR_041691 p.Val128Phe Polymorphism rs35150210 - FER P16591 VAR_041692 p.Glu404Gln Unclassified - An ovarian Endometrioid carcinoma sample FER P16591 VAR_041693 p.Met412Val Polymorphism rs33940843 - FER P16591 VAR_041694 p.Ala443Pro Polymorphism rs34259824 - FER P16591 VAR_041695 p.Trp460Cys Unclassified - A lung small cell carcinoma sample FER P16591 VAR_041696 p.Glu813Gln Polymorphism rs56097357 - FER P16591 VAR_051695 p.Ile507Thr Polymorphism rs34204308 - FES P07332 VAR_041697 p.Arg85Cys Polymorphism rs56041861 - FES P07332 VAR_041698 p.Arg246Gln Polymorphism rs34573430 - FES P07332 VAR_041699 p.Met323Val Polymorphism rs56296062 - FETUB Q9UGM5 VAR_024449 p.Gly202Ser Polymorphism rs6785067 - FETUB Q9UGM5 VAR_049061 p.Ser33Pro Polymorphism rs34522046 - FETUB Q9UGM5 VAR_049062 p.Lys360Arg Polymorphism rs7999 - FEZ1 Q99689 VAR_020461 p.Asp123Glu Polymorphism rs597570 - FEZ2 Q9UHY8 VAR_053771 p.Pro50Leu Polymorphism rs1544655 - FEZ2 Q9UHY8 VAR_053772 p.Arg329Cys Polymorphism rs848642 - FEZF2 Q8TBJ5 VAR_033213 p.Pro164Thr Polymorphism rs17852031 - FEZF2 Q8TBJ5 VAR_033214 p.Ser250Trp Polymorphism rs17852032 - FEZF2 Q8TBJ5 VAR_065740 p.Gly188Asp Unclassified - - FFAR1 O14842 VAR_020076 p.Arg211His Polymorphism rs2301151 - FFAR2 O15552 VAR_011861 p.Leu211His Polymorphism rs409093 - FFAR3 O14843 VAR_062854 p.Gln44Arg Polymorphism - - FFAR3 O14843 VAR_062855 p.Arg45Cys Polymorphism rs423385 - FFAR3 O14843 VAR_062856 p.Arg174Trp Unclassified - - FFAR3 O14843 VAR_062857 p.Leu227Val Polymorphism rs403989 - FFAR3 O14843 VAR_062858 p.Ala256Val Polymorphism rs424715 - FFAR3 O14843 VAR_062962 p.Ser346Asn Polymorphism - - FGA P02671 VAR_002390 p.Asp26Asn Unclassified - - FGA P02671 VAR_002391 p.Gly31Val Unclassified - - FGA P02671 VAR_002392 p.Arg35Cys Polymorphism - - FGA P02671 VAR_002393 p.Arg35His Polymorphism - - FGA P02671 VAR_002394 p.Pro37Leu Unclassified - - FGA P02671 VAR_002395 p.Arg38Asn Unclassified - - FGA P02671 VAR_002396 p.Arg38Ser Unclassified - - FGA P02671 VAR_002397 p.Arg38Gly Unclassified - - FGA P02671 VAR_002398 p.Ser66Thr Polymorphism - - FGA P02671 VAR_002399 p.Arg160Ser Unclassified - - FGA P02671 VAR_002400 p.Ser453Asn Unclassified - - FGA P02671 VAR_002401 p.Arg573Cys Unclassified - - FGA P02671 VAR_010730 p.Val39Asp Unclassified - - FGA P02671 VAR_010731 p.Glu545Val Disease - Amyloidosis type 8 (AMYL8) [MIM:105200] FGA P02671 VAR_010732 p.Arg573Leu Disease - Amyloidosis type 8 (AMYL8) [MIM:105200] FGA P02671 VAR_011609 p.Ile6Val Polymorphism rs2070025 - FGA P02671 VAR_011610 p.Thr331Ala Polymorphism rs6050 - FGA P02671 VAR_011611 p.Thr456Ala Polymorphism rs2070031 - FGA P02671 VAR_014168 p.Lys446Glu Polymorphism rs6052 - FGB P02675 VAR_002403 p.Arg44Cys Unclassified - - FGB P02675 VAR_002404 p.Gly45Arg Unclassified - - FGB P02675 VAR_002405 p.Arg74Cys Unclassified - - FGB P02675 VAR_002406 p.Ala98Thr Unclassified - - FGB P02675 VAR_002407 p.Ala365Thr Unclassified - - FGB P02675 VAR_002408 p.Arg478Lys Polymorphism rs4220 - FGB P02675 VAR_013091 p.Pro100Ser Polymorphism rs2227434 - FGB P02675 VAR_013092 p.Asn170His Polymorphism rs2227409 - FGB P02675 VAR_013093 p.Pro265Leu Polymorphism rs6054 - FGB P02675 VAR_014169 p.Lys2Glu Polymorphism rs6053 - FGB P02675 VAR_016908 p.Arg196Cys Disease - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGB P02675 VAR_016909 p.Leu383Arg Disease - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGB P02675 VAR_016910 p.Gly430Asp Disease - Congenital afibrinogenemia (CAFBN) [MIM:202400] FGD1 P98174 VAR_015236 p.Arg522His Disease - Aarskog-Scott syndrome (AAS) [MIM:305400] FGD1 P98174 VAR_015237 p.Arg610Gln Disease rs28935497 Aarskog-Scott syndrome (AAS) [MIM:305400] FGD1 P98174 VAR_019268 p.Ser205Ile Disease - Aarskog-Scott syndrome (AAS) [MIM:305400] FGD1 P98174 VAR_019269 p.Pro312Leu Polymorphism rs28935498 - FGD1 P98174 VAR_019270 p.Glu380Ala Disease - Aarskog-Scott syndrome (AAS) [MIM:305400] FGD1 P98174 VAR_019271 p.Arg443His Disease - Aarskog-Scott syndrome (AAS) [MIM:305400] FGD2 Q7Z6J4 VAR_021491 p.Gln32His Polymorphism rs831510 - FGD3 Q5JSP0 VAR_021492 p.Val275Ile Polymorphism rs3802384 - FGD4 Q96M96 VAR_034957 p.Met298Arg Unclassified - - FGD4 Q96M96 VAR_044321 p.Met298Thr Disease - Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311] FGD5 Q6ZNL6 VAR_059799 p.Gly403Arg Polymorphism rs7636593 - FGD5 Q6ZNL6 VAR_059800 p.Ala828Thr Polymorphism rs17038795 - FGD5 Q6ZNL6 VAR_059801 p.Glu941Lys Polymorphism rs2307092 - FGD6 Q6ZV73 VAR_024286 p.Gln257Arg Polymorphism rs10507047 - FGD6 Q6ZV73 VAR_051985 p.Glu1393Lys Polymorphism rs3794255 - FGF10 O15520 VAR_029888 p.Cys106Phe Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] FGF10 O15520 VAR_029889 p.Ile156Arg Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] FGF11 Q92914 VAR_018886 p.Arg163Gly Polymorphism - - FGF13 Q92913 VAR_020945 p.Lys197Gln Polymorphism rs17510270 - FGF14 Q92915 VAR_022735 p.Gly42Cys Polymorphism - - FGF14 Q92915 VAR_022736 p.Phe145Ser Disease - Spinocerebellar ataxia type 27 (SCA27) [MIM:609307] FGF1 P05230 VAR_021357 p.Gly21Glu Polymorphism rs17223632 - FGF20 Q9NP95 VAR_020946 p.Gly116Arg Polymorphism rs3793405 - FGF20 Q9NP95 VAR_020947 p.Pro175Ala Polymorphism rs10089600 - FGF20 Q9NP95 VAR_020948 p.Asp206Asn Polymorphism rs17550360 - FGF21 Q9NSA1 VAR_049064 p.Leu174Pro Polymorphism rs739320 - FGF21 Q9NSA1 VAR_055375 p.Gly141Ser Polymorphism rs41308776 - FGF23 Q9GZV9 VAR_010717 p.Arg176Gln Disease - Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100] FGF23 Q9GZV9 VAR_010718 p.Arg179Trp Disease rs28937882 Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100] FGF23 Q9GZV9 VAR_010719 p.Arg179Gln Disease - Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100] FGF23 Q9GZV9 VAR_010720 p.Thr239Met Polymorphism rs7955866 - FGF23 Q9GZV9 VAR_018887 p.Pro195Ser Polymorphism rs13312793 - FGF23 Q9GZV9 VAR_023831 p.Ser71Gly Disease - Hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900] FGF3 P11487 VAR_031848 p.Ser156Pro Disease - Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706] FGF3 P11487 VAR_060492 p.Leu6Pro Disease - Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706] FGF5 P12034 VAR_025174 p.Met54Val Polymorphism rs33950145 - FGF6 P10767 VAR_018882 p.Val36Ala Polymorphism rs11613495 - FGF6 P10767 VAR_018883 p.Ala63Val Polymorphism rs17183529 - FGF6 P10767 VAR_018884 p.Asp174Val Polymorphism rs7961645 - FGF6 P10767 VAR_018885 p.Arg191Trp Polymorphism rs17183778 - FGF7 P21781 VAR_049063 p.Met59Thr Polymorphism rs34531231 - FGF8 P55075 VAR_057962 p.His14Asn Disease - Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057963 p.Pro26Leu Disease - Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057964 p.Phe40Leu Disease - Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057965 p.Lys89Glu Disease - Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057966 p.Arg116Gly Disease - Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF8 P55075 VAR_057967 p.Thr218Met Disease - Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] FGF9 P31371 VAR_020944 p.Ile94Val Polymorphism rs12427696 - FGF9 P31371 VAR_063254 p.Ser99Asn Disease - Multiple synostoses syndrome type 3 (SYNS3) [MIM:612961] FGFBP2 Q9BYJ0 VAR_049065 p.Pro90Ser Polymorphism rs758329 - FGFBP2 Q9BYJ0 VAR_059287 p.Phe84Leu Polymorphism rs2286459 - FGFBP2 Q9BYJ0 VAR_061171 p.Ser28Asn Polymorphism rs35496730 - FGFBP3 Q8TAT2 VAR_026888 p.Glu206Val Polymorphism rs1107947 - FGFBP3 Q8TAT2 VAR_059288 p.Ala107Thr Polymorphism rs10881994 - FGFR1OP O95684 VAR_051000 p.Lys271Asn Polymorphism rs17856382 - FGFR1OP O95684 VAR_061651 p.Ala190Gly Polymorphism rs34617108 - FGFR1 P11362 VAR_004111 p.Pro252Arg Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR1 P11362 VAR_017885 p.Gly97Asp Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017886 p.Tyr99Cys Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017887 p.Ala167Ser Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017888 p.Cys277Tyr Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017889 p.Val607Met Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017890 p.Trp666Arg Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017891 p.Met719Arg Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_017892 p.Pro772Ser Disease rs56234888 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_019290 p.Arg22Ser Polymorphism rs17175750 - FGFR1 P11362 VAR_019291 p.Gly818Arg Polymorphism rs17182456 - FGFR1 P11362 VAR_019292 p.Arg822Cys Polymorphism rs17182463 - FGFR1 P11362 VAR_030968 p.Gly48Ser Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030969 p.Asn77Lys Polymorphism - - FGFR1 P11362 VAR_030970 p.Arg78Cys Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030971 p.Cys101Phe Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030972 p.Val102Ile Disease rs55642501 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030973 p.Asp129Ala Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030974 p.Cys178Ser Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030975 p.Trp213Gly Polymorphism rs17851623 - FGFR1 P11362 VAR_030976 p.Asp224His Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030977 p.Gly237Asp Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030978 p.Gly237Ser Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030979 p.Leu245Pro Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030980 p.Arg250Trp Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030981 p.Arg254Gln Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030982 p.Gly270Asp Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030983 p.Val273Met Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030984 p.Glu274Gly Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030985 p.Pro283Arg Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030986 p.Ile300Thr Disease - Trigonocephaly type 1 (TRIGNO1) [MIM:190440] FGFR1 P11362 VAR_030987 p.Asn330Ile Disease - Osteoglophonic dysplasia (OGD) [MIM:166250] FGFR1 P11362 VAR_030988 p.Ser332Cys Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030989 p.Tyr339Cys Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030990 p.Ala343Val Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030991 p.Ser346Cys Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030992 p.Pro366Leu Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030993 p.Tyr374Cys Disease - Osteoglophonic dysplasia (OGD) [MIM:166250] FGFR1 P11362 VAR_030994 p.Cys381Arg Disease - Osteoglophonic dysplasia (OGD) [MIM:166250] FGFR1 P11362 VAR_030995 p.Ala520Thr Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030996 p.Ile538Val Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030997 p.His621Arg Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030998 p.Arg622Gly Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_030999 p.Arg622Gln Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031000 p.Ser685Phe Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031001 p.Gly687Arg Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031002 p.Ile693Phe Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031003 p.Gly703Arg Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031004 p.Gly703Ser Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031005 p.Pro722His Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031006 p.Pro722Ser Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031007 p.Asn724Lys Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031008 p.Pro745Ser Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_031009 p.Leu769Val Polymorphism rs2956723 - FGFR1 P11362 VAR_031010 p.Val795Ile Disease - Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1 P11362 VAR_042201 p.Ser125Leu Unclassified - A breast infiltrating ductal carcinoma sample FGFR1 P11362 VAR_042202 p.Pro252Thr Unclassified - A lung bronchoalveolar carcinoma sample FGFR1 P11362 VAR_042203 p.Val664Leu Unclassified - A lung large cell carcinoma sample FGFR2 P21802 VAR_004112 p.Tyr105Cys Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004113 p.Ser252Leu Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004114 p.Ser252Phe Disease - Apert syndrome (APRS) [MIM:101200] FGFR2 P21802 VAR_004115 p.Ser252Trp Disease - Apert syndrome (APRS) [MIM:101200] FGFR2 P21802 VAR_004115 p.Ser252Trp Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004117 p.Pro253Arg Disease - Apert syndrome (APRS) [MIM:101200] FGFR2 P21802 VAR_004118 p.Ser267Pro Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004120 p.Phe276Val Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004121 p.Cys278Phe Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004121 p.Cys278Phe Disease - Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004121 p.Cys278Phe Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004123 p.Gln289Pro Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004123 p.Gln289Pro Disease - Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004124 p.Trp290Cys Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004125 p.Trp290Arg Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004126 p.Lys292Glu Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004127 p.Tyr301Cys Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004128 p.Ala314Ser Unclassified - - FGFR2 P21802 VAR_004129 p.Asp321Ala Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004130 p.Tyr328Cys Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004131 p.Asn331Ile Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004133 p.Gly338Glu Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004134 p.Tyr340His Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004135 p.Thr341Pro Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004135 p.Thr341Pro Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004136 p.Cys342Phe Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004137 p.Cys342Arg Disease - Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] FGFR2 P21802 VAR_004137 p.Cys342Arg Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004137 p.Cys342Arg Disease - Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004137 p.Cys342Arg Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004138 p.Cys342Ser Disease - Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] FGFR2 P21802 VAR_004138 p.Cys342Ser Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004138 p.Cys342Ser Disease - Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004138 p.Cys342Ser Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004139 p.Cys342Tyr Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004139 p.Cys342Tyr Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004140 p.Ala344Gly Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004140 p.Ala344Gly Disease - Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2 P21802 VAR_004141 p.Ala344Pro Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004141 p.Ala344Pro Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004142 p.Ser347Cys Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004143 p.Ser351Cys Disease - Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] FGFR2 P21802 VAR_004143 p.Ser351Cys Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004143 p.Ser351Cys Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004144 p.Ser354Cys Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004146 p.Val359Phe Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_004146 p.Val359Phe Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_004147 p.Gly384Arg Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_015011 p.Gly338Arg Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_015012 p.Gly613Arg Polymorphism - - FGFR2 P21802 VAR_017258 p.Arg6Pro Polymorphism rs3750819 - FGFR2 P21802 VAR_017259 p.Ala172Phe Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017260 p.Met186Thr Polymorphism rs755793 - FGFR2 P21802 VAR_017261 p.Pro263Leu Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017263 p.Cys278Tyr Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017264 p.Tyr281Cys Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017265 p.Ile288Ser Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017266 p.Trp290Gly Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017267 p.Ala315Ser Unclassified - - FGFR2 P21802 VAR_017268 p.Ala337Pro Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017269 p.Tyr340Cys Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017270 p.Cys342Gly Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017271 p.Cys342Trp Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017272 p.Ser354Tyr Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017273 p.Ala362Ser Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017274 p.Ser372Cys Disease - Beare-Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790] FGFR2 P21802 VAR_017275 p.Tyr375Cys Disease - Beare-Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790] FGFR2 P21802 VAR_017275 p.Tyr375Cys Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017276 p.Asn549His Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_017277 p.Glu565Gly Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017278 p.Lys641Arg Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017279 p.Lys659Asn Unclassified - - FGFR2 P21802 VAR_017280 p.Gly663Glu Disease - Pfeiffer syndrome (PS) [MIM:101600] FGFR2 P21802 VAR_017281 p.Arg678Gly Disease - Crouzon syndrome (CS) [MIM:123500] FGFR2 P21802 VAR_023788 p.Lys526Glu Disease - Familial scaphocephaly syndrome (FSPC) [MIM:609579] FGFR2 P21802 VAR_029884 p.Ala628Thr Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] FGFR2 P21802 VAR_029885 p.Ala648Thr Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] FGFR2 P21802 VAR_036380 p.Arg203Cys Unclassified - Breast cancer samples FGFR2 P21802 VAR_042204 p.Ser57Leu Polymorphism rs56226109 - FGFR2 P21802 VAR_042205 p.Gly272Val Unclassified - An ovarian serous carcinoma sample FGFR2 P21802 VAR_042206 p.Asp283Asn Unclassified - A lung squamous cell carcinoma sample FGFR2 P21802 VAR_046071 p.Arg612Thr Unclassified - A lung adenocarcinoma sample FGFR3 P22607 VAR_004148 p.Arg248Cys Disease - Bladder cancer (BLC) [MIM:109800] FGFR3 P22607 VAR_004148 p.Arg248Cys Disease - Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] FGFR3 P22607 VAR_004148 p.Arg248Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004148 p.Arg248Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004149 p.Ser249Cys Disease - Bladder cancer (BLC) [MIM:109800] FGFR3 P22607 VAR_004149 p.Ser249Cys Disease - Cervical cancer (CERCA) [MIM:603956] FGFR3 P22607 VAR_004149 p.Ser249Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004149 p.Ser249Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004150 p.Pro250Arg Disease rs4647924 Muenke syndrome (MNKS) [MIM:602849] FGFR3 P22607 VAR_004151 p.Gly370Cys Disease - Bladder cancer (BLC) [MIM:109800] FGFR3 P22607 VAR_004151 p.Gly370Cys Disease - Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] FGFR3 P22607 VAR_004151 p.Gly370Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004151 p.Gly370Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004152 p.Ser371Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004152 p.Ser371Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004153 p.Tyr373Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004153 p.Tyr373Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_004154 p.Gly375Cys Disease - Achondroplasia (ACH) [MIM:100800] FGFR3 P22607 VAR_004155 p.Gly380Arg Disease rs28931614 Achondroplasia (ACH) [MIM:100800] FGFR3 P22607 VAR_004155 p.Gly380Arg Disease rs28931614 Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] FGFR3 P22607 VAR_004156 p.Ala391Glu Disease rs28931615 Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247] FGFR3 P22607 VAR_004157 p.Ile538Val Disease - Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_004158 p.Asn540Lys Disease rs28933068 Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_004159 p.Asn540Thr Disease - Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_004160 p.Lys650Glu Disease - Keratosis seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004160 p.Lys650Glu Disease - Testicular germ cell tumor (TGCT) [MIM:273300] FGFR3 P22607 VAR_004160 p.Lys650Glu Disease - Thanatophoric dysplasia type 2 (TD2) [MIM:187601] FGFR3 P22607 VAR_004161 p.Lys650Met Disease - Achondroplasia (ACH) [MIM:100800] FGFR3 P22607 VAR_004161 p.Lys650Met Disease - Keratosis seborrheic (KERSEB) [MIM:182000] FGFR3 P22607 VAR_004161 p.Lys650Met Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600] FGFR3 P22607 VAR_018388 p.Glu322Lys Unclassified - Colorectal cancer FGFR3 P22607 VAR_018389 p.Asn540Ser Disease - Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_018390 p.Lys650Gln Disease - Bladder cancer (BLC) [MIM:109800] FGFR3 P22607 VAR_018390 p.Lys650Gln Disease - Hypochondroplasia (HCH) [MIM:146000] FGFR3 P22607 VAR_022167 p.Gly65Arg Polymorphism rs2305178 - FGFR3 P22607 VAR_022168 p.Phe384Leu Polymorphism rs17881656 - FGFR3 P22607 VAR_022169 p.Ala441Thr Polymorphism rs17884368 - FGFR3 P22607 VAR_022170 p.Ala717Thr Polymorphism rs17882190 - FGFR3 P22607 VAR_022171 p.Ile726Phe Polymorphism rs17880763 - FGFR3 P22607 VAR_029108 p.Arg621His Disease - Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474] FGFR3 P22607 VAR_029887 p.Asp513Asn Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] FGFR3 P22607 VAR_042207 p.Thr79Ser Unclassified - A lung adenocarcinoma sample FGFR3 P22607 VAR_042208 p.Cys228Arg Unclassified - A colorectal adenocarcinoma sample FGFR3 P22607 VAR_042209 p.Thr338Met Polymorphism - - FGFR3 P22607 VAR_042210 p.Asp646Asn Polymorphism - - FGFR4 P22455 VAR_014797 p.Gly388Arg Polymorphism rs351855 - FGFR4 P22455 VAR_029185 p.Val10Ile Polymorphism rs1966265 - FGFR4 P22455 VAR_042211 p.Pro136Leu Polymorphism rs376618 - FGFR4 P22455 VAR_042212 p.Thr179Ala Polymorphism rs55675160 - FGFR4 P22455 VAR_042213 p.Asp516Asn Polymorphism rs34158682 - FGFR4 P22455 VAR_046102 p.Gly426Ser Polymorphism rs55879131 - FGFR4 P22455 VAR_046103 p.Val550Met Unclassified - - FGFR4 P22455 VAR_046104 p.Pro712Thr Unclassified - A lung adenocarcinoma sample FGFR4 P22455 VAR_046105 p.Ser772Asn Unclassified - A lung neuroendocrine carcinoma sample FGFR4 P22455 VAR_049720 p.Arg529Gln Polymorphism rs34284947 - FGFRL1 Q8N441 VAR_022642 p.Pro362Gln Polymorphism rs4647930 - FGFRL1 Q8N441 VAR_024316 p.Pro464Leu Polymorphism rs4647932 - FGG P02679 VAR_002409 p.Arg301Cys Unclassified - - FGG P02679 VAR_002410 p.Arg301His Unclassified - - FGG P02679 VAR_002411 p.Gly318Val Unclassified - - FGG P02679 VAR_002412 p.Asn334Lys Unclassified - - FGG P02679 VAR_002413 p.Asn334Ile Unclassified - - FGG P02679 VAR_002414 p.Met336Thr Unclassified - - FGG P02679 VAR_002416 p.Gln355Arg Unclassified - - FGG P02679 VAR_002417 p.Asp356Tyr Unclassified - - FGG P02679 VAR_002418 p.Asp356Val Unclassified - - FGG P02679 VAR_002419 p.Asn363Lys Unclassified - - FGG P02679 VAR_002421 p.Ser384Cys Unclassified - - FGG P02679 VAR_002422 p.Arg401Gly Unclassified - - FGG P02679 VAR_014170 p.Gly191Arg Polymorphism rs6063 - FGG P02679 VAR_014171 p.Met410Val Polymorphism rs6061 - FGG P02679 VAR_015853 p.Gly335Asp Unclassified - - FGG P02679 VAR_033930 p.Tyr140His Polymorphism rs2066870 - FGG P02679 VAR_049066 p.Glu77Gly Polymorphism rs11551835 - FGGY Q96C11 VAR_040072 p.Leu134Val Polymorphism rs11207463 - FGGY Q96C11 VAR_059193 p.Asn43Lys Polymorphism rs835409 - FGGY Q96C11 VAR_059194 p.Leu246Val Polymorphism rs11207463 - FGL1 Q08830 VAR_024002 p.Thr15Ile Polymorphism rs484373 - FGL1 Q08830 VAR_024003 p.Ile72Val Polymorphism rs3739406 - FGL1 Q08830 VAR_024004 p.Pro105Leu Polymorphism rs2653406 - FGL1 Q08830 VAR_024005 p.Tyr111His Polymorphism rs34019703 - FGL1 Q08830 VAR_024006 p.Thr121Ser Polymorphism rs34239530 - FGL1 Q08830 VAR_024007 p.Tyr140Phe Polymorphism rs35431851 - FGL1 Q08830 VAR_049067 p.Met114Val Polymorphism rs35311020 - FGL1 Q08830 VAR_049068 p.Trp256Leu Polymorphism rs2653414 - FGL2 Q14314 VAR_013066 p.Gly53Glu Polymorphism rs2075761 - FGR P09769 VAR_041700 p.Thr110Ile Polymorphism rs34597831 - FGR P09769 VAR_041701 p.Ser130Arg Polymorphism rs35334091 - FHAD1 B1AJZ9 VAR_046372 p.Glu763Lys Polymorphism rs12126178 - FHDC1 Q9C0D6 VAR_050990 p.Arg639Cys Polymorphism rs3811833 - FHL1 Q13642 VAR_042603 p.Trp122Ser Disease - X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695] FHL1 Q13642 VAR_042605 p.Cys224Trp Disease - X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696] FHL1 Q13642 VAR_045999 p.His123Tyr Disease - X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717] FHL1 Q13642 VAR_046000 p.Cys132Phe Disease - X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717] FHL1 Q13642 VAR_046001 p.Cys153Arg Disease - X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717] FHL1 Q13642 VAR_046002 p.Cys153Tyr Disease - X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717] FHL5 Q5TD97 VAR_022824 p.Val211Met Polymorphism rs2252816 - FHL5 Q5TD97 VAR_056160 p.Arg35His Polymorphism rs35157931 - FHL5 Q5TD97 VAR_056161 p.Arg204Gly Polymorphism rs2273621 - FHL5 Q5TD97 VAR_056162 p.Ser243Arg Polymorphism rs9373985 - FHOD3 Q2V2M9 VAR_055804 p.Arg475Trp Polymorphism rs9964535 - FH P07954 VAR_002445 p.Lys230Arg Disease - Fumarase deficiency (FHD) [MIM:606812] FH P07954 VAR_002445 p.Lys230Arg Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_002446 p.Ala308Thr Disease - Fumarase deficiency (FHD) [MIM:606812] FH P07954 VAR_002447 p.Phe312Cys Disease - Fumarase deficiency (FHD) [MIM:606812] FH P07954 VAR_002448 p.Asp425Val Disease - Fumarase deficiency (FHD) [MIM:606812] FH P07954 VAR_013497 p.Asn107Thr Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013498 p.Ala117Pro Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013499 p.His180Arg Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013500 p.Gln185Arg Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013501 p.Arg233His Disease rs28933069 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013502 p.Gly282Val Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FH P07954 VAR_013503 p.Met328Arg Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] FIBP O43427 VAR_050991 p.Arg152Trp Polymorphism rs11559154 - FIBP O43427 VAR_050992 p.Met351Val Polymorphism rs2231893 - FIBP O43427 VAR_060711 p.Leu359Arg Polymorphism - - FIG4 Q92562 VAR_020378 p.Met364Leu Polymorphism rs2295837 - FIG4 Q92562 VAR_022826 p.Val654Ala Polymorphism rs9885672 - FIG4 Q92562 VAR_036974 p.Ile41Thr Disease - Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228] FIG4 Q92562 VAR_054831 p.Asp48Gly Polymorphism - - FIG4 Q92562 VAR_054832 p.Asp53Tyr Disease - Amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577] FIG4 Q92562 VAR_054833 p.Arg388Gly Polymorphism - - FIG4 Q92562 VAR_054834 p.Ile411Val Polymorphism - - FIG4 Q92562 VAR_054835 p.Tyr647Cys Polymorphism - - FIG4 Q92562 VAR_054836 p.Ile902Thr Polymorphism - - FIGLA Q6QHK4 VAR_046776 p.Ala4Glu Polymorphism - - FIGLA Q6QHK4 VAR_046778 p.Ser141Thr Polymorphism rs7566476 - FIGNL1 Q6PIW4 VAR_034941 p.Val137Met Polymorphism rs10235371 - FIGNL1 Q6PIW4 VAR_034942 p.His216Tyr Polymorphism rs35929700 - FIGNL2 A6NMB9 VAR_044425 p.Thr366Pro Polymorphism rs303819 - FIGN Q5HY92 VAR_027613 p.Ser96Leu Polymorphism rs2231902 - FIGN Q5HY92 VAR_027614 p.Arg448Cys Polymorphism rs2231904 - FIGN Q5HY92 VAR_027615 p.Lys565Arg Polymorphism rs2231905 - FILIP1L Q4L180 VAR_050993 p.Arg168His Polymorphism rs793440 - FILIP1L Q4L180 VAR_050994 p.Ala884Pro Polymorphism rs28362487 - FILIP1 Q7Z7B0 VAR_050995 p.Pro1003Ser Polymorphism rs34807169 - FIZ1 Q96SL8 VAR_060269 p.Thr391Ala Polymorphism rs7247236 - FJX1 Q86VR8 VAR_043117 p.Met153Leu Polymorphism rs12792700 - FJX1 Q86VR8 VAR_062233 p.Arg415His Polymorphism rs12286850 - FKBP10 Q96AY3 VAR_050625 p.Lys197Arg Polymorphism rs34764749 - FKBP15 Q5T1M5 VAR_034851 p.Ala106Thr Polymorphism rs1133618 - FKBP15 Q5T1M5 VAR_034852 p.His413Gln Polymorphism rs10435864 - FKBP15 Q5T1M5 VAR_034853 p.Leu434Phe Polymorphism rs10465129 - FKBP15 Q5T1M5 VAR_061543 p.Ala847Ser Polymorphism rs1128116 - FKBP15 Q5T1M5 VAR_061544 p.Pro993Thr Polymorphism rs57348436 - FKBP2 P26885 VAR_006411 p.Ala25Thr Polymorphism - - FKBP2 P26885 VAR_006412 p.Cys97Tyr Polymorphism - - FKBP2 P26885 VAR_050623 p.Arg7Gln Polymorphism rs4672 - FKBP4 Q02790 VAR_050624 p.Thr436Pro Polymorphism rs1042228 - FKBP8 Q14318 VAR_044225 p.Ala87Val Polymorphism rs11574806 - FKBP9L Q75LS8 VAR_036962 p.Val125Gly Polymorphism rs11524166 - FKBPL Q9UIM3 VAR_061546 p.Ala90Thr Polymorphism rs28732176 - FKRP Q9H9S5 VAR_018280 p.Ala114Gly Unclassified - - FKRP Q9H9S5 VAR_018282 p.Arg143Ser Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018283 p.Pro217Thr Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018284 p.Ser221Arg Disease rs28937902 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018285 p.Leu276Ile Disease rs28937900 Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018286 p.Tyr309Cys Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018287 p.Arg312Cys Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018288 p.Pro315Thr Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018289 p.Pro316Arg Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018289 p.Pro316Arg Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018290 p.Tyr328Ser Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018291 p.Arg339Leu Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_018292 p.Arg339His Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018293 p.Asp401Asn Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018294 p.Pro448Leu Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_018295 p.Tyr465Ser Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_019272 p.Arg54Trp Disease rs28937905 Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_022850 p.Tyr307Asn Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153] FKRP Q9H9S5 VAR_022850 p.Tyr307Asn Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_022851 p.Pro316Ser Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_022852 p.Cys318Tyr Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153] FKRP Q9H9S5 VAR_022853 p.Asp360Asn Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_022854 p.Val405Leu Disease rs28937904 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_022855 p.Ala455Asp Disease rs28937903 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKRP Q9H9S5 VAR_022856 p.Pro462Ser Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065055 p.Val79Met Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065056 p.Arg134Trp Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065057 p.Val160Phe Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065058 p.Tyr182Cys Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065059 p.Thr293Ile Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065060 p.Val300Ala Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065061 p.Val300Met Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065062 p.Pro358Leu Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] FKRP Q9H9S5 VAR_065063 p.Asn463Asp Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] FKTN O75072 VAR_018278 p.Cys250Gly Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800] FKTN O75072 VAR_018279 p.Asn446Asp Polymorphism rs41313301 - FKTN O75072 VAR_033926 p.Gly125Ser Polymorphism rs34006675 - FKTN O75072 VAR_033927 p.Arg203Gln Polymorphism rs34787999 - FKTN O75072 VAR_036334 p.Asp225Glu Unclassified - A breast cancer sample FKTN O75072 VAR_036335 p.Asp225Asn Unclassified - A breast cancer sample FKTN O75072 VAR_039287 p.Arg179Thr Disease - Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615] FKTN O75072 VAR_039288 p.Arg307Gln Disease - Muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152] FKTN O75072 VAR_039288 p.Arg307Gln Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588] FKTN O75072 VAR_039289 p.Gln358Pro Disease - Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615] FKTN O75072 VAR_061296 p.Arg56Cys Polymorphism rs41277797 - FKTN O75072 VAR_065050 p.Ala114Thr Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588] FKTN O75072 VAR_065051 p.Ala170Glu Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800] FKTN O75072 VAR_065052 p.Phe176Ser Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588] FKTN O75072 VAR_065053 p.Arg246Gly Disease - Muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152] FKTN O75072 VAR_065054 p.Tyr371Cys Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800] FLCN Q8NFG4 VAR_025356 p.Ser79Trp Unclassified - A sporadic colorectal carcinoma FLCN Q8NFG4 VAR_025357 p.Ala238Val Unclassified - A renal cell carcinoma cell line FLCN Q8NFG4 VAR_025358 p.Arg320Gln Unclassified - A primary colorectal cancer FLCN Q8NFG4 VAR_025359 p.Arg392Gly Unclassified - A primary colorectal cancer FLCN Q8NFG4 VAR_025360 p.Ala444Ser Unclassified - A primary clear-cell renal cell carcinoma FLCN Q8NFG4 VAR_025361 p.Ala445Thr Unclassified rs41419545 A sporadic colorectal carcinoma FLG2 Q5D862 VAR_042868 p.Leu41Phe Polymorphism rs3818831 - FLG2 Q5D862 VAR_042869 p.Arg107Gln Polymorphism rs2282304 - FLG2 Q5D862 VAR_042870 p.Gly137Glu Polymorphism rs6587667 - FLG2 Q5D862 VAR_042871 p.Arg276Gln Polymorphism rs2282303 - FLG2 Q5D862 VAR_042872 p.Cys298Ser Polymorphism rs2282302 - FLG2 Q5D862 VAR_042873 p.Glu723Lys Polymorphism rs16842865 - FLG2 Q5D862 VAR_042874 p.Tyr881Ser Polymorphism rs12411129 - FLG2 Q5D862 VAR_042875 p.His1249Arg Polymorphism rs16833974 - FLG2 Q5D862 VAR_042876 p.Glu1992Asp Polymorphism rs1858484 - FLG2 Q5D862 VAR_042877 p.Gln2239His Polymorphism rs12736606 - FLG2 Q5D862 VAR_059173 p.Ser958Tyr Polymorphism rs12411129 - FLG P20930 VAR_033931 p.Gly3436Ala Polymorphism rs2065955 - FLG P20930 VAR_045968 p.Ser1184Leu Polymorphism rs3120649 - FLG P20930 VAR_045969 p.Arg1376Gly Polymorphism rs11581433 - FLG P20930 VAR_045970 p.Arg1437Cys Polymorphism rs12750571 - FLG P20930 VAR_045971 p.Ala1805Val Polymorphism rs12405241 - FLG P20930 VAR_045972 p.His1961Gln Polymorphism rs3126079 - FLG P20930 VAR_045973 p.Ile2022Thr Polymorphism rs3120655 - FLG P20930 VAR_045974 p.His2507Gln Polymorphism rs3126074 - FLG P20930 VAR_048472 p.Arg2540Gln Polymorphism rs12407748 - FLG P20930 VAR_048473 p.Asp2781Tyr Polymorphism rs2065958 - FLG P20930 VAR_048474 p.Ser3371Phe Polymorphism rs3120647 - FLG P20930 VAR_048475 p.Ser3396Pro Polymorphism rs11584340 - FLG P20930 VAR_048476 p.His3415Tyr Polymorphism rs7512553 - FLG P20930 VAR_048477 p.Ser3427Tyr Polymorphism rs11204978 - FLG P20930 VAR_048478 p.His3437Gln Polymorphism rs12073613 - FLG P20930 VAR_048479 p.Arg3490Cys Polymorphism rs2184953 - FLG P20930 VAR_048480 p.Gln3512Arg Polymorphism rs12407748 - FLG P20930 VAR_048481 p.Asp3584Asn Polymorphism rs3814300 - FLG P20930 VAR_048482 p.Ser3695Phe Polymorphism rs3120647 - FLG P20930 VAR_048483 p.Thr3696Ala Polymorphism rs2011331 - FLG P20930 VAR_048484 p.Ser3720Pro Polymorphism rs11584340 - FLG P20930 VAR_048485 p.His3739Tyr Polymorphism rs7512553 - FLG P20930 VAR_048486 p.Ser3751Tyr Polymorphism rs11204978 - FLG P20930 VAR_048487 p.Gly3760Ala Polymorphism rs2065955 - FLG P20930 VAR_048488 p.His3761Gln Polymorphism rs12073613 - FLG P20930 VAR_048489 p.Arg3814Cys Polymorphism rs2184953 - FLG P20930 VAR_048490 p.Gly3827Trp Polymorphism rs12728908 - FLG P20930 VAR_048491 p.Asp3908Asn Polymorphism rs3814300 - FLG P20930 VAR_048492 p.Ser3935Pro Polymorphism rs3126065 - FLG P20930 VAR_048493 p.Ser3970Leu Polymorphism rs3814299 - FLG P20930 VAR_059155 p.Thr454Ala Polymorphism rs2011331 - FLG P20930 VAR_059156 p.Pro478Ser Polymorphism rs11584340 - FLG P20930 VAR_059157 p.Thr725Ile Polymorphism rs3120655 - FLG P20930 VAR_059158 p.Ser1482Tyr Polymorphism rs11204978 - FLG P20930 VAR_059159 p.Arg1699Cys Polymorphism rs12405278 - FLG P20930 VAR_059160 p.Ser1750Phe Polymorphism rs3120647 - FLG P20930 VAR_059161 p.His1816Gln Polymorphism rs12073613 - FLG P20930 VAR_059162 p.Arg1891Gln Polymorphism rs12407748 - FLG P20930 VAR_059163 p.Ala2108Val Polymorphism rs7522925 - FLG P20930 VAR_059164 p.Tyr2119His Polymorphism rs7512553 - FLG P20930 VAR_059165 p.Tyr2194His Polymorphism rs2184953 - FLG P20930 VAR_059166 p.Gly2545Arg Polymorphism rs3126072 - FLG P20930 VAR_059167 p.Tyr3105Asp Polymorphism rs2065958 - FLG P20930 VAR_059168 p.Val3179Gly Polymorphism rs2065957 - FLG P20930 VAR_059169 p.Trp3503Gly Polymorphism rs12728908 - FLG P20930 VAR_059170 p.Arg3564His Polymorphism rs7518080 - FLG P20930 VAR_059171 p.Glu3593Asp Polymorphism rs12083389 - FLG P20930 VAR_059172 p.His3630Tyr Polymorphism rs9436065 - FLG P20930 VAR_061049 p.Gly332Val Polymorphism rs41267154 - FLG P20930 VAR_061050 p.Gly444Arg Polymorphism rs11588170 - FLG P20930 VAR_061051 p.Ser742Tyr Polymorphism rs3120654 - FLG P20930 VAR_061052 p.Arg1684His Polymorphism rs12407807 - FLII Q13045 VAR_029258 p.Arg1243His Polymorphism rs8821 - FLNA P21333 VAR_012831 p.Val320Ala Polymorphism rs1064816 - FLNA P21333 VAR_012832 p.Phe370Leu Polymorphism rs1064817 - FLNA P21333 VAR_012833 p.Val552Ala Polymorphism rs730319 - FLNA P21333 VAR_012834 p.Leu656Phe Disease - Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_012835 p.Ala1764Thr Disease rs57108893 Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_015699 p.Glu82Val Disease rs28935169 Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_015700 p.Pro207Leu Disease rs28935469 Otopalatodigital syndrome type 1 (OPD1) [MIM:311300] FLNA P21333 VAR_015701 p.Glu254Lys Disease rs28935470 Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015702 p.Asp1159Ala Disease rs28935471 Frontometaphyseal dysplasia (FMD) [MIM:305620] FLNA P21333 VAR_015703 p.Ala1188Thr Disease rs28935472 Melnick-Needles syndrome (MNS) [MIM:309350] FLNA P21333 VAR_015704 p.Ser1199Leu Disease rs28935473 Melnick-Needles syndrome (MNS) [MIM:309350] FLNA P21333 VAR_015713 p.Gln170Pro Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015714 p.Leu172Phe Disease - Otopalatodigital syndrome type 1 (OPD1) [MIM:311300] FLNA P21333 VAR_015715 p.Arg196Gly Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015716 p.Arg196Trp Disease - Otopalatodigital syndrome type 1 (OPD1) [MIM:311300] FLNA P21333 VAR_015717 p.Ala200Ser Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015718 p.Ala273Pro Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015719 p.Thr555Lys Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] FLNA P21333 VAR_015720 p.Asp1184Glu Disease - Melnick-Needles syndrome (MNS) [MIM:309350] FLNA P21333 VAR_015721 p.Ser1186Leu Disease - Frontometaphyseal dysplasia (FMD) [MIM:305620] FLNA P21333 VAR_015723 p.Cys1645Phe Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] FLNA P21333 VAR_022734 p.Ala39Gly Disease - Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537] FLNA P21333 VAR_031305 p.Met102Val Disease - Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_031306 p.Ala128Val Disease - Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537] FLNA P21333 VAR_031307 p.Ser149Phe Disease - Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_031308 p.Asp203Tyr Disease - Otopalatodigital syndrome type 1 (OPD1) [MIM:311300] FLNA P21333 VAR_031309 p.Val528Met Disease - Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] FLNA P21333 VAR_031310 p.Ser1012Leu Polymorphism rs17091204 - FLNA P21333 VAR_031312 p.Gly1728Cys Disease - Frontometaphyseal dysplasia (FMD) [MIM:305620] FLNA P21333 VAR_032083 p.Ala1419Gly Polymorphism rs35504556 - FLNA P21333 VAR_058720 p.Cys210Phe Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] FLNA P21333 VAR_058721 p.Pro1291Leu Disease - FG syndrome type 2 (FGS2) [MIM:300321] FLNA P21333 VAR_064156 p.Gly288Arg Disease - Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400] FLNA P21333 VAR_064157 p.Pro637Gln Disease - Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400] FLNA P21333 VAR_064158 p.Val711Asp Disease - Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400] FLNB O75369 VAR_017182 p.Val1018Met Polymorphism rs2276742 - FLNB O75369 VAR_017183 p.Asp1157Asn Polymorphism rs1131356 - FLNB O75369 VAR_031392 p.Glu1179Lys Polymorphism rs17058845 - FLNB O75369 VAR_031393 p.Val1471Met Polymorphism rs12632456 - FLNB O75369 VAR_033069 p.Phe161Cys Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033070 p.Gly168Ser Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033071 p.Leu171Arg Disease - Boomerang dysplasia (BOOMD) [MIM:112310] FLNB O75369 VAR_033072 p.Ala173Val Disease rs28937586 Atelosteogenesis type 1 (AO1) [MIM:108720] FLNB O75369 VAR_033073 p.Ser188Pro Disease - Atelosteogenesis type 1 (AO1) [MIM:108720] FLNB O75369 VAR_033074 p.Met202Val Disease rs28939707 Atelosteogenesis type 1 (AO1) [MIM:108720] FLNB O75369 VAR_033074 p.Met202Val Disease rs28939707 Atelosteogenesis type 3 (AO3) [MIM:108721] FLNB O75369 VAR_033075 p.Glu227Lys Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033076 p.Leu234Val Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033077 p.Ser235Pro Disease - Boomerang dysplasia (BOOMD) [MIM:112310] FLNB O75369 VAR_033078 p.Gly361Ser Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033079 p.Gly363Glu Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033080 p.Gly751Arg Disease rs28937587 Atelosteogenesis type 3 (AO3) [MIM:108721] FLNB O75369 VAR_033081 p.Leu1431Arg Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033083 p.Gly1586Arg Disease rs28939706 Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033084 p.Val1592Asp Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033085 p.Pro1603Leu Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033086 p.Gly1691Ser Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_033087 p.Gly1834Arg Disease - Larsen syndrome (LRS) [MIM:150250] FLNB O75369 VAR_035917 p.Arg566Gln Unclassified - A breast cancer sample FLNB O75369 VAR_035918 p.Asn663Lys Unclassified - A breast cancer sample FLNB O75369 VAR_035919 p.Thr703Lys Unclassified - A breast cancer sample FLNB O75369 VAR_035920 p.Ala1534Gly Unclassified - A breast cancer sample FLNC Q14315 VAR_015705 p.Arg1567Gln Polymorphism rs2291569 - FLNC Q14315 VAR_015706 p.Asp1580Gly Polymorphism rs2643766 - FLNC Q14315 VAR_015707 p.Thr1599Ala Polymorphism rs2643767 - FLNC Q14315 VAR_015708 p.Lys2135Arg Polymorphism rs1063261 - FLNC Q14315 VAR_015709 p.Arg2203Pro Polymorphism rs1063262 - FLNC Q14315 VAR_015710 p.Ser2626Asn Polymorphism rs2639142 - FLNC Q14315 VAR_015711 p.Lys2637Gln Polymorphism rs2291572 - FLOT1 O75955 VAR_048415 p.Ser52Asn Polymorphism rs3180825 - FLOT2 Q14254 VAR_024375 p.Ala328Thr Polymorphism rs3736238 - FLRT2 O43155 VAR_050996 p.Arg486Gln Polymorphism rs17646457 - FLRT3 Q9NZU0 VAR_017152 p.His400Gln Polymorphism rs6079391 - FLRT3 Q9NZU0 VAR_050997 p.Ala377Thr Polymorphism rs8120693 - FLRT3 Q9NZU0 VAR_050998 p.Glu460Asp Polymorphism rs35253731 - FLRT3 Q9NZU0 VAR_064714 p.Ile452Val Unclassified - - FLT1 P17948 VAR_042045 p.Lys60Thr Polymorphism rs56409818 - FLT1 P17948 VAR_042046 p.Glu144Lys Polymorphism rs55974987 - FLT1 P17948 VAR_042047 p.Arg281Gln Polymorphism rs55687105 - FLT1 P17948 VAR_042048 p.Leu422Ile Unclassified - A lung adenocarcinoma sample FLT1 P17948 VAR_042049 p.Arg781Gln Unclassified - A glioma low grade oligodendroglioma sample FLT1 P17948 VAR_042050 p.Met938Val Polymorphism rs35549791 - FLT1 P17948 VAR_042051 p.Glu982Ala Polymorphism rs35832528 - FLT1 P17948 VAR_042052 p.Leu1061Val Unclassified - A bladder transitional cell carcinoma sample FLT1 P17948 VAR_049719 p.Ile128Leu Polymorphism rs35073261 - FLT3 P36888 VAR_034677 p.Asp7Gly Polymorphism rs12872889 - FLT3 P36888 VAR_034678 p.Thr227Met Polymorphism rs1933437 - FLT3 P36888 VAR_042069 p.Val158Ala Polymorphism rs56321896 - FLT3 P36888 VAR_042070 p.Asp324Asn Polymorphism rs35602083 - FLT3 P36888 VAR_042071 p.Asp358Val Polymorphism rs34172843 - FLT3 P36888 VAR_042072 p.Val557Ile Polymorphism rs35958982 - FLT3 P36888 VAR_054149 p.Val194Met Polymorphism - - FLT3 P36888 VAR_061291 p.Ile417Leu Polymorphism rs56090538 - FLT3 P36888 VAR_065679 p.Asp835Glu Unclassified - Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065680 p.Asp835His Unclassified - Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065681 p.Asp835Asn Unclassified - Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065682 p.Asp835Val Unclassified - Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065683 p.Asp835Tyr Unclassified - Acute lymphoblastic leukemia patients FLT3 P36888 VAR_065684 p.Ile836Met Unclassified - Acute lymphoblastic leukemia patients FLT4 P35916 VAR_018407 p.Thr494Ala Polymorphism rs307826 - FLT4 P35916 VAR_018408 p.Pro641Ser Polymorphism rs55667289 - FLT4 P35916 VAR_018409 p.Gly857Arg Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] FLT4 P35916 VAR_018410 p.His890Gln Polymorphism rs448012 - FLT4 P35916 VAR_018411 p.Pro954Ser Disease rs34255532 Hemangioma capillary infantile (HCI) [MIM:602089] FLT4 P35916 VAR_018412 p.His1035Arg Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] FLT4 P35916 VAR_018413 p.Arg1041Pro Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] FLT4 P35916 VAR_018414 p.Leu1044Pro Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] FLT4 P35916 VAR_018415 p.Pro1114Leu Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] FLT4 P35916 VAR_018416 p.Pro1137Ser Disease - Hemangioma capillary infantile (HCI) [MIM:602089] FLT4 P35916 VAR_018417 p.Arg1146His Polymorphism rs1130379 - FLT4 P35916 VAR_034379 p.Asn527Ser Polymorphism rs35874891 - FLT4 P35916 VAR_042062 p.Asn149Asp Polymorphism rs34221241 - FLT4 P35916 VAR_042063 p.Arg378Cys Unclassified - A renal clear cell carcinoma sample FLT4 P35916 VAR_042064 p.His868Tyr Polymorphism rs35171798 - FLT4 P35916 VAR_042065 p.Thr1010Ile Unclassified - A metastatic melanoma sample FLT4 P35916 VAR_042066 p.Arg1031Gln Polymorphism rs56082504 - FLT4 P35916 VAR_042067 p.Asp1049Asn Polymorphism rs56310180 - FLT4 P35916 VAR_042068 p.Arg1075Gln Polymorphism - - FLVCR1 Q9Y5Y0 VAR_050297 p.Ala52Pro Polymorphism rs11120047 - FLVCR1 Q9Y5Y0 VAR_050298 p.Thr544Met Polymorphism rs3207090 - FLVCR1 Q9Y5Y0 VAR_065158 p.Asn121Asp Disease - Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] FLVCR1 Q9Y5Y0 VAR_065159 p.Cys192Arg Disease - Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] FLVCR1 Q9Y5Y0 VAR_065160 p.Ala241Thr Disease - Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] FLVCR1 Q9Y5Y0 VAR_065161 p.Gly493Arg Disease - Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] FLVCR2 Q9UPI3 VAR_018271 p.Val16Ala Polymorphism rs2287015 - FLVCR2 Q9UPI3 VAR_050299 p.Ala481Thr Polymorphism rs35126362 - FLVCR2 Q9UPI3 VAR_064043 p.Pro280Arg Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064044 p.Leu398Val Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064045 p.Thr430Arg Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064410 p.Arg84His Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064412 p.Ala326Val Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064413 p.Thr352Arg Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064414 p.Gly412Arg Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FLVCR2 Q9UPI3 VAR_064415 p.Thr430Met Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] FMN1 Q68DA7 VAR_034630 p.Leu686Pro Polymorphism rs2306277 - FMN2 Q9NZ56 VAR_033932 p.Arg1468His Polymorphism rs3795677 - FMN2 Q9NZ56 VAR_049094 p.Arg1291Gly Polymorphism rs12732924 - FMN2 Q9NZ56 VAR_059290 p.Arg1148Gly Polymorphism rs12732924 - FMNL2 Q96PY5 VAR_032570 p.Tyr352Cys Polymorphism rs34119671 - FMNL2 Q96PY5 VAR_032571 p.Met504Thr Polymorphism rs11897929 - FMO1 Q01740 VAR_015358 p.His97Gln Polymorphism rs56841822 - FMO1 Q01740 VAR_015359 p.Ile303Thr Polymorphism rs28360418 - FMO1 Q01740 VAR_015360 p.Ile303Val Polymorphism rs16864314 - FMO1 Q01740 VAR_022204 p.Arg223Gln Polymorphism rs16864310 - FMO1 Q01740 VAR_022205 p.Ser227Thr Polymorphism - - FMO1 Q01740 VAR_022206 p.Ile322Val Polymorphism rs28360419 - FMO1 Q01740 VAR_022207 p.Phe327Leu Polymorphism rs28360420 - FMO1 Q01740 VAR_022208 p.Lys373Arg Polymorphism rs28360421 - FMO1 Q01740 VAR_022209 p.Arg474His Polymorphism rs28360433 - FMO2 Q99518 VAR_014840 p.Asp36Gly Polymorphism rs2020870 - FMO2 Q99518 VAR_014841 p.Phe81Ser Polymorphism rs2020860 - FMO2 Q99518 VAR_014842 p.Phe182Ser Polymorphism rs2307492 - FMO2 Q99518 VAR_014843 p.Ser195Leu Polymorphism rs2020862 - FMO2 Q99518 VAR_014844 p.Asn413Lys Polymorphism rs2020865 - FMO2 Q99518 VAR_015361 p.Val59Ile Polymorphism rs55708639 - FMO2 Q99518 VAR_015362 p.Arg238Gln Polymorphism rs28369895 - FMO2 Q99518 VAR_015363 p.Arg391Thr Polymorphism rs28369899 - FMO2 Q99518 VAR_022185 p.Phe69Tyr Polymorphism rs28745274 - FMO2 Q99518 VAR_022186 p.Glu314Gly Polymorphism rs2020863 - FMO3 P31513 VAR_002423 p.Met66Ile Disease - Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_002424 p.Pro153Leu Disease - Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_002425 p.Glu158Lys Polymorphism rs2266782 - FMO3 P31513 VAR_002426 p.Val257Met Polymorphism rs1736557 - FMO3 P31513 VAR_002427 p.Glu308Gly Polymorphism rs2266780 - FMO3 P31513 VAR_008145 p.Arg492Trp Disease - Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_008146 p.Ala52Thr Disease - Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_008147 p.Arg387Leu Disease - Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_014845 p.Val277Ala Polymorphism rs2066530 - FMO3 P31513 VAR_014846 p.Glu362Gln Polymorphism rs2066532 - FMO3 P31513 VAR_015364 p.Asp132His Polymorphism rs12072582 - FMO3 P31513 VAR_015365 p.Leu360Pro Polymorphism rs28363581 - FMO3 P31513 VAR_015366 p.Gly503Arg Polymorphism - - FMO3 P31513 VAR_018345 p.Asp198Glu Polymorphism - - FMO3 P31513 VAR_018346 p.Arg205Cys Polymorphism rs28363549 - FMO3 P31513 VAR_037306 p.Glu32Lys Disease - Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_037307 p.Asn61Ser Disease - Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_037308 p.Met434Ile Disease - Trimethylaminuria (TMAU) [MIM:602079] FMO3 P31513 VAR_042705 p.Glu24Asp Unclassified - - FMO3 P31513 VAR_042706 p.Asn61Lys Unclassified - - FMO3 P31513 VAR_042707 p.Lys416Asn Unclassified - - FMO4 P31512 VAR_015367 p.Ile37Thr Polymorphism - - FMO4 P31512 VAR_015368 p.Val323Ala Polymorphism rs1042767 - FMO4 P31512 VAR_015369 p.Glu339Gln Polymorphism - - FMO4 P31512 VAR_022305 p.Gly372Ser Polymorphism - - FMO4 P31512 VAR_022306 p.Phe536Leu Polymorphism - - FMO4 P31512 VAR_022307 p.Leu544Arg Polymorphism - - FMO4 P31512 VAR_049090 p.Thr308Ser Polymorphism rs3737925 - FMO5 P49326 VAR_015370 p.Pro457Leu Polymorphism - - FMO5 P49326 VAR_022308 p.Pro400Ala Polymorphism rs28381218 - FMO5 P49326 VAR_022309 p.Arg506Ser Polymorphism rs28381223 - FMO6P O60774 VAR_015371 p.Val127Ile Polymorphism - - FMO6P O60774 VAR_015372 p.Val257Ile Polymorphism - - FMR1NB Q8N0W7 VAR_031254 p.Ala142Val Polymorphism rs764631 - FMR1 Q06787 VAR_005234 p.Ile304Asn Disease - Fragile X syndrome (FRAX) [MIM:300624] FMR1 Q06787 VAR_005235 p.Arg546His Polymorphism - - FMR1 Q06787 VAR_029278 p.Ala145Ser Polymorphism rs29281 - FMR1 Q06787 VAR_064507 p.Arg138Gln Unclassified - - FN1 P02751 VAR_036018 p.Asp940Asn Unclassified - A breast cancer sample FN1 P02751 VAR_036019 p.Arg1120Pro Unclassified - A breast cancer sample FN1 P02751 VAR_036020 p.Asp2380Asn Unclassified - A colorectal cancer sample FN1 P02751 VAR_043917 p.Gln15Leu Polymorphism rs1250259 - FN1 P02751 VAR_043918 p.Tyr973Cys Disease - Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894] FN1 P02751 VAR_043919 p.Trp1834Arg Disease - Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894] FN1 P02751 VAR_043920 p.Leu1883Arg Disease - Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894] FN1 P02751 VAR_043921 p.Ile1960Val Polymorphism rs1250209 - FN1 P02751 VAR_056576 p.Ser1467Arg Polymorphism rs11687611 - FN1 P02751 VAR_056577 p.Ile2121Val Polymorphism rs17449032 - FN1 P02751 VAR_059529 p.Thr817Pro Polymorphism rs2577301 - FN1 P02751 VAR_061486 p.Val2170Ile Polymorphism rs1250209 - FN3KRP Q9HA64 VAR_034057 p.Ala57Val Polymorphism rs3748811 - FNBP1 Q96RU3 VAR_029388 p.Ser490Asn Polymorphism rs1023000 - FNBP4 Q8N3X1 VAR_032623 p.Glu125Gly Polymorphism rs34962598 - FNBP4 Q8N3X1 VAR_032624 p.Thr794Ala Polymorphism rs35040940 - FNDC1 Q4ZHG4 VAR_031826 p.Thr438Ala Polymorphism rs509648 - FNDC1 Q4ZHG4 VAR_031827 p.Glu463Gln Polymorphism rs420137 - FNDC1 Q4ZHG4 VAR_031828 p.Gln1003Glu Polymorphism rs370434 - FNDC1 Q4ZHG4 VAR_031829 p.Asp1180Glu Polymorphism rs420054 - FNDC1 Q4ZHG4 VAR_031830 p.Leu1261Pro Polymorphism rs3003174 - FNDC1 Q4ZHG4 VAR_031831 p.Gln1280Arg Polymorphism rs2501176 - FNDC1 Q4ZHG4 VAR_031832 p.Thr1504Lys Polymorphism rs386360 - FNDC1 Q4ZHG4 VAR_031833 p.Thr1574Ala Polymorphism rs7763726 - FNDC3A Q9Y2H6 VAR_059655 p.Ser107Gly Polymorphism rs34539036 - FNDC3B Q53EP0 VAR_031856 p.Thr179Ser Polymorphism rs7652177 - FNDC3B Q53EP0 VAR_035921 p.Pro927Ser Unclassified - A breast cancer sample FNDC3B Q53EP0 VAR_047814 p.Met1080Val Polymorphism rs2276806 - FNDC7 Q5VTL7 VAR_042570 p.Ser309Asn Polymorphism rs11582005 - FNDC7 Q5VTL7 VAR_042571 p.Val353Ala Polymorphism rs4494160 - FNDC7 Q5VTL7 VAR_042572 p.Asn367Ser Polymorphism rs3006870 - FNDC7 Q5VTL7 VAR_042573 p.Pro685Leu Polymorphism rs1277017 - FNDC8 Q8TC99 VAR_031770 p.Ser36Pro Polymorphism rs1871892 - FNDC8 Q8TC99 VAR_050999 p.Ala127Thr Polymorphism rs12952106 - FNDC9 Q8TBE3 VAR_047138 p.His50Asn Polymorphism rs17852104 - FNDC9 Q8TBE3 VAR_047139 p.Val138Ile Polymorphism rs10037485 - FNDC9 Q8TBE3 VAR_047140 p.Pro166Ala Polymorphism rs17054522 - FNIP1 Q8TF40 VAR_036824 p.Gly76Cys Polymorphism rs7730228 - FNIP1 Q8TF40 VAR_036825 p.Ser354Leu Polymorphism rs13177318 - FNIP1 Q8TF40 VAR_036826 p.Gln648Arg Polymorphism rs26008 - FNIP1 Q8TF40 VAR_036827 p.Val738Leu Polymorphism rs12109782 - FNIP1 Q8TF40 VAR_036828 p.Ile844Val Polymorphism rs7717874 - FNIP2 Q9P278 VAR_045612 p.Thr298Ser Polymorphism rs2276938 - FOCAD Q5VW36 VAR_037877 p.Leu166Ser Polymorphism rs10511687 - FOCAD Q5VW36 VAR_037878 p.Val234Ile Polymorphism rs10441706 - FOCAD Q5VW36 VAR_037879 p.Ile523Val Polymorphism rs17832431 - FOCAD Q5VW36 VAR_037880 p.Thr718Ser Polymorphism rs7875872 - FOCAD Q5VW36 VAR_037881 p.Thr1373Pro Polymorphism rs3206852 - FOCAD Q5VW36 VAR_037882 p.Lys1668Glu Polymorphism rs4977881 - FOCAD Q5VW36 VAR_049528 p.Glu721Lys Polymorphism rs10964742 - FOCAD Q5VW36 VAR_061251 p.Thr1373Ala Polymorphism rs3206852 - FOCAD Q5VW36 VAR_061252 p.Thr1373Ser Polymorphism rs3206852 - FOLH1B Q9HBA9 VAR_059782 p.Asn151Lys Polymorphism rs10830339 - FOLH1 Q04609 VAR_012736 p.His475Tyr Unclassified - - FOLH1 Q04609 VAR_024592 p.Tyr75His Polymorphism rs202676 - FOLH1 Q04609 VAR_028882 p.Val627Leu Polymorphism rs2988342 - FOLH1 Q04609 VAR_036398 p.Ala23Thr Unclassified - A colorectal cancer sample FOLR1 P15328 VAR_011963 p.Trp160Cys Polymorphism rs1801932 - FOLR1 P15328 VAR_059284 p.Trp28Arg Polymorphism rs7928649 - FOLR2 P14207 VAR_036408 p.His236Asn Unclassified - A breast cancer sample FOSB P53539 VAR_022286 p.Gly33Ser Polymorphism rs28381241 - FOXA1 P55317 VAR_013457 p.Ala83Thr Polymorphism rs7144658 - FOXA1 P55317 VAR_013458 p.Ser448Asn Polymorphism - - FOXA1 P55317 VAR_015183 p.Gly72Ala Polymorphism - - FOXA1 P55317 VAR_015185 p.Gln185Arg Polymorphism - - FOXA1 P55317 VAR_055835 p.Gly87Glu Polymorphism rs35220193 - FOXA2 Q9Y261 VAR_008858 p.Ala328Val Unclassified - - FOXA3 P55318 VAR_008859 p.Gly91Arg Polymorphism - - FOXC1 Q12948 VAR_007815 p.Phe112Ser Disease - Iridogoniodysgenesis anomaly (IGDA) [MIM:601631] FOXC1 Q12948 VAR_007815 p.Phe112Ser Disease - Peters anomaly (PAN) [MIM:604229] FOXC1 Q12948 VAR_007816 p.Ile126Met Unclassified - - FOXC1 Q12948 VAR_007817 p.Ser131Leu Unclassified - - FOXC1 Q12948 VAR_007944 p.Ser82Thr Unclassified - - FOXC1 Q12948 VAR_007945 p.Ile87Met Unclassified - - FOXC1 Q12948 VAR_018150 p.Met161Lys Unclassified - - FOXC1 Q12948 VAR_058722 p.Pro79Leu Unclassified - - FOXC1 Q12948 VAR_058723 p.Pro79Arg Unclassified - - FOXC1 Q12948 VAR_058724 p.Pro79Thr Unclassified - - FOXC1 Q12948 VAR_058725 p.Leu86Phe Unclassified - - FOXC1 Q12948 VAR_058726 p.Ile91Ser Unclassified - - FOXC1 Q12948 VAR_058727 p.Ile91Thr Unclassified - - FOXC1 Q12948 VAR_058728 p.Tyr115Ser Unclassified - - FOXC1 Q12948 VAR_058729 p.Arg127His Unclassified - - FOXC1 Q12948 VAR_058730 p.Leu130Phe Disease - Axenfeld-Rieger syndrome type 3 (RIEG3) [MIM:602482] FOXC1 Q12948 VAR_058731 p.Gly149Asp Unclassified - - FOXC1 Q12948 VAR_058732 p.Met161Val Unclassified - - FOXC1 Q12948 VAR_058733 p.Gly165Arg Unclassified - - FOXC1 Q12948 VAR_058734 p.Arg169Pro Unclassified - - FOXC2 Q99958 VAR_018418 p.Ser125Leu Disease - Lymphedema-distichiasis (LYD) [MIM:153400] FOXC2 Q99958 VAR_060950 p.Ser191Phe Polymorphism - - FOXD2 O60548 VAR_061185 p.Ala368Pro Polymorphism rs2405913 - FOXD4L1 Q9NU39 VAR_059299 p.Val29Ile Polymorphism rs9308683 - FOXD4 Q12950 VAR_028177 p.Ile134Phe Polymorphism rs10959293 - FOXD4 Q12950 VAR_028178 p.Asp136Gly Polymorphism rs2492216 - FOXD4 Q12950 VAR_028179 p.Ile152Val Polymorphism rs7031810 - FOXE1 O00358 VAR_008857 p.Ala65Val Disease - Bamforth-Lazarus syndrome (BLS) [MIM:241850] FOXE1 O00358 VAR_016882 p.Ser57Asn Disease rs28937575 Bamforth-Lazarus syndrome (BLS) [MIM:241850] FOXE1 O00358 VAR_027508 p.Arg102Cys Unclassified - - FOXE3 Q13461 VAR_026234 p.Gly196Ala Polymorphism - - FOXE3 Q13461 VAR_026235 p.Ser300Gly Polymorphism - - FOXE3 Q13461 VAR_062582 p.Gly49Ala Unclassified - - FOXE3 Q13461 VAR_062583 p.Met82Val Unclassified - - FOXE3 Q13461 VAR_062584 p.Arg90Leu Disease - Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250] FOXG1 P55316 VAR_063885 p.Phe215Leu Disease - Congenital variant of Rett syndrome (RTTCV) [MIM:613454] FOXG1 P55316 VAR_064395 p.Pro109Leu Polymorphism - - FOXG1 P55316 VAR_064396 p.Arg244Cys Disease - Congenital variant of Rett syndrome (RTTCV) [MIM:613454] FOXH1 O75593 VAR_011381 p.Ser113Thr Unclassified - Colorectal cancer FOXH1 O75593 VAR_011382 p.Thr125Ser Unclassified - Colorectal cancer FOXI1 Q12951 VAR_049160 p.Pro243Ser Polymorphism rs35678180 - FOXI1 Q12951 VAR_049161 p.Asn362Ser Polymorphism rs3828625 - FOXJ2 Q9P0K8 VAR_021842 p.Pro310Ser Polymorphism rs2277415 - FOXJ2 Q9P0K8 VAR_049162 p.Pro229Arg Polymorphism rs35642012 - FOXJ3 Q9UPW0 VAR_039104 p.Val162Ala Polymorphism rs343376 - FOXJ3 Q9UPW0 VAR_039105 p.Thr377Pro Polymorphism rs1139978 - FOXL2 P58012 VAR_015181 p.Gly187Asp Disease - Premature ovarian failure type 3 (POF3) [MIM:608996] FOXL2 P58012 VAR_015182 p.Pro285Ser Polymorphism - - FOXL2 P58012 VAR_016883 p.Ile84Ser Disease rs28937884 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_016885 p.Leu106Phe Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_016886 p.Asn109Lys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_016887 p.Ser217Phe Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021196 p.Ser58Leu Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021197 p.Ala66Val Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021198 p.Glu69Lys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021199 p.His104Arg Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021200 p.Asn105Ser Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021201 p.Ala179Gly Polymorphism rs7432551 - FOXL2 P58012 VAR_021202 p.Lys193Arg Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021203 p.Tyr215Cys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_021204 p.Tyr258Asn Disease rs28937885 Premature ovarian failure type 3 (POF3) [MIM:608996] FOXL2 P58012 VAR_046490 p.Met65Val Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046491 p.Ile80Thr Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046492 p.Ile84Asn Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046493 p.Phe90Ser Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046494 p.Trp98Gly Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046495 p.Ser101Arg Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046496 p.Ile102Thr Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046497 p.Arg103Cys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_046498 p.Leu106Pro Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_062545 p.Ile63Thr Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_062546 p.Trp98Arg Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_062547 p.Leu108Pro Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXL2 P58012 VAR_062548 p.Cys134Trp Unclassified - Granulosa-cell tumors of the ovary FOXL2 P58012 VAR_062549 p.Ser217Cys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] FOXM1 Q08050 VAR_020024 p.Ser643Pro Polymorphism rs3742076 - FOXM1 Q08050 VAR_025239 p.Ala402Glu Polymorphism rs28990715 - FOXM1 Q08050 VAR_025240 p.Phe450Leu Polymorphism rs28919868 - FOXM1 Q08050 VAR_025241 p.Pro669Arg Polymorphism rs28919869 - FOXM1 Q08050 VAR_025242 p.Pro673Leu Polymorphism rs28919870 - FOXN1 O15353 VAR_010376 p.Ala283Val Polymorphism - - FOXN1 O15353 VAR_020025 p.Arg69Cys Polymorphism rs2071587 - FOXN1 O15353 VAR_020026 p.Ala599Pro Polymorphism rs532648 - FOXN1 O15353 VAR_021843 p.Arg411Trp Polymorphism rs2286520 - FOXN3 O00409 VAR_049163 p.Tyr337His Polymorphism rs1804717 - FOXN4 Q96NZ1 VAR_059300 p.Pro137Leu Polymorphism rs11609341 - FOXP1 Q9H334 VAR_065067 p.Ser5Pro Polymorphism - - FOXP1 Q9H334 VAR_065068 p.Met101Val Polymorphism - - FOXP1 Q9H334 VAR_065069 p.Pro215Ala Polymorphism - - FOXP1 Q9H334 VAR_065070 p.Ser261Pro Polymorphism - - FOXP1 Q9H334 VAR_065071 p.Thr390Ser Polymorphism - - FOXP1 Q9H334 VAR_065072 p.Val445Met Polymorphism - - FOXP1 Q9H334 VAR_065073 p.Asn570Ser Polymorphism - - FOXP1 Q9H334 VAR_065074 p.Asn597Thr Polymorphism - - FOXP1 Q9H334 VAR_065075 p.Thr613Asn Polymorphism - - FOXP2 O15409 VAR_012278 p.Arg553His Disease - Speech-language disorder 1 (SPCH1) [MIM:602081] FOXP3 Q9BZS1 VAR_011331 p.Phe371Cys Disease - Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_011332 p.Ala384Thr Disease - Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_011333 p.Arg397Trp Disease rs28935477 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3 Q9BZS1 VAR_023569 p.Ile363Val Disease - Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP4 Q8IVH2 VAR_036219 p.Ala464Thr Unclassified - A breast cancer sample FOXQ1 Q9C009 VAR_031606 p.Thr60Pro Polymorphism rs9502889 - FOXQ1 Q9C009 VAR_031607 p.Gln61Pro Polymorphism rs9502890 - FOXR2 Q6PJQ5 VAR_028731 p.Val286Ala Polymorphism rs2375465 - FOXRED1 Q96CU9 VAR_030192 p.Ala343Pro Polymorphism rs17855445 - FOXRED1 Q96CU9 VAR_033856 p.Val145Ile Polymorphism rs34542988 - FOXRED1 Q96CU9 VAR_051003 p.His380Arg Polymorphism rs7116126 - FOXRED1 Q96CU9 VAR_064571 p.Asn430Ser Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] FOXRED2 Q8IWF2 VAR_043704 p.Phe179Leu Polymorphism rs760718 - FOXRED2 Q8IWF2 VAR_043705 p.Asn308Ser Polymorphism rs2277841 - FOXRED2 Q8IWF2 VAR_043706 p.Lys374Arg Polymorphism rs35813894 - FOXRED2 Q8IWF2 VAR_043707 p.Glu637Asp Polymorphism rs35748020 - FOXRED2 Q8IWF2 VAR_062247 p.Arg71Cys Polymorphism rs56767103 - FOXS1 O43638 VAR_021844 p.Pro292Ala Polymorphism rs2296917 - FPGS Q05932 VAR_043929 p.Val437Asp Polymorphism rs12686275 - FPGS Q05932 VAR_043930 p.Ala489Val Polymorphism rs17855900 - FPGS Q05932 VAR_043931 p.Ser528Thr Polymorphism rs34354111 - FPGS Q05932 VAR_059305 p.Ile22Val Polymorphism rs10760502 - FPGT O14772 VAR_061650 p.Pro448Leu Polymorphism rs55882158 - FPR1 P21462 VAR_003476 p.Val101Leu Polymorphism rs2070745 - FPR1 P21462 VAR_003477 p.Asn192Lys Polymorphism rs1042229 - FPR1 P21462 VAR_003478 p.Glu346Ala Polymorphism rs867228 - FPR1 P21462 VAR_055915 p.Ile11Thr Polymorphism rs5030878 - FPR1 P21462 VAR_055916 p.Arg190Trp Polymorphism rs5030880 - FRA10AC1 Q70Z53 VAR_023237 p.Arg16His Polymorphism rs726817 - FRA10AC1 Q70Z53 VAR_023238 p.Thr78Arg Polymorphism rs2275438 - FRA10AC1 Q70Z53 VAR_056872 p.Ser251Phe Polymorphism rs11187583 - FRAS1 Q86XX4 VAR_055807 p.Asp54His Polymorphism rs17003071 - FRAS1 Q86XX4 VAR_055808 p.Pro209Ser Polymorphism rs7699637 - FRAS1 Q86XX4 VAR_055809 p.Tyr228His Polymorphism rs7682296 - FRAS1 Q86XX4 VAR_055810 p.Ile243Val Polymorphism rs6848030 - FRAS1 Q86XX4 VAR_055811 p.Ser429Tyr Polymorphism rs6838959 - FRAS1 Q86XX4 VAR_055812 p.Leu466Ile Polymorphism rs12504081 - FRAS1 Q86XX4 VAR_055813 p.Met590Thr Polymorphism rs35030041 - FRAS1 Q86XX4 VAR_055814 p.Ala817Val Polymorphism rs6835769 - FRAS1 Q86XX4 VAR_055815 p.Thr954Met Polymorphism rs17003166 - FRAS1 Q86XX4 VAR_055816 p.Gly1023Glu Polymorphism rs17459809 - FRAS1 Q86XX4 VAR_055817 p.Glu1136Lys Polymorphism rs12512164 - FRAS1 Q86XX4 VAR_055818 p.Ala1626Val Polymorphism rs17003213 - FREM1 Q5H8C1 VAR_047317 p.Val439Leu Polymorphism rs2779500 - FREM1 Q5H8C1 VAR_047318 p.Ile499Val Polymorphism rs1353223 - FREM1 Q5H8C1 VAR_047319 p.Ser803Tyr Polymorphism rs7023244 - FREM1 Q5H8C1 VAR_047320 p.Leu863Val Polymorphism rs7041710 - FREM1 Q5H8C1 VAR_047321 p.Ser1202Arg Polymorphism rs16932300 - FREM1 Q5H8C1 VAR_047322 p.Asp1273Glu Polymorphism rs7025814 - FREM1 Q5H8C1 VAR_047323 p.Val1502Met Polymorphism rs10961700 - FREM1 Q5H8C1 VAR_047324 p.Asn1576Ile Polymorphism rs2101770 - FREM1 Q5H8C1 VAR_047325 p.Gln2143Pro Polymorphism rs10961689 - FREM1 Q5H8C1 VAR_047326 p.Val2174Gly Polymorphism rs17856912 - FREM1 Q5H8C1 VAR_063422 p.Arg649Trp Disease - Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980] FREM1 Q5H8C1 VAR_063423 p.Gly1440Ser Disease - Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980] FREM2 Q5SZK8 VAR_023201 p.Glu1972Lys Disease - Fraser syndrome (FRASS) [MIM:219000] FREM2 Q5SZK8 VAR_023202 p.Arg2066Cys Polymorphism rs9548505 - FREM2 Q5SZK8 VAR_023203 p.Thr2153Ser Polymorphism rs9548506 - FREM2 Q5SZK8 VAR_023204 p.Thr2326Ile Polymorphism rs9548509 - FREM2 Q5SZK8 VAR_033933 p.Val770Met Polymorphism rs7327915 - FREM2 Q5SZK8 VAR_033934 p.Leu868Val Polymorphism rs7329939 - FREM2 Q5SZK8 VAR_033935 p.Met1039Lys Polymorphism rs2496424 - FREM2 Q5SZK8 VAR_033936 p.Phe1070Ser Polymorphism rs2496425 - FREM2 Q5SZK8 VAR_033937 p.Arg1840Trp Polymorphism rs9603422 - FREM2 Q5SZK8 VAR_037569 p.Ile1045Ser Polymorphism rs17058433 - FREM2 Q5SZK8 VAR_037570 p.Arg1668His Polymorphism rs1868463 - FREM2 Q5SZK8 VAR_037571 p.Ala2962Val Polymorphism rs7996253 - FREM2 Q5SZK8 VAR_061174 p.Arg722Lys Polymorphism rs58363253 - FREM2 Q5SZK8 VAR_061175 p.Ser745Pro Polymorphism rs2496423 - FREM3 P0C091 VAR_055819 p.Asp412Asn Polymorphism rs4478130 - FREM3 P0C091 VAR_059291 p.Asp417Asn Polymorphism rs184496 - FRG1 Q14331 VAR_033938 p.Lys66Glu Polymorphism rs17406826 - FRG1 Q14331 VAR_049105 p.Thr19Ala Polymorphism rs17797703 - FRG2C A6NGY1 VAR_060156 p.Cys12Arg Polymorphism rs13073018 - FRG2C A6NGY1 VAR_060157 p.Leu210Met Polymorphism rs13096122 - FRK P42685 VAR_006283 p.Gly122Arg Polymorphism rs3756772 - FRK P42685 VAR_041702 p.Ile100Val Polymorphism rs34704018 - FRK P42685 VAR_041703 p.Ser133Leu Polymorphism rs34064900 - FRMD1 Q8N878 VAR_027099 p.Arg274Cys Polymorphism rs902393 - FRMD1 Q8N878 VAR_027100 p.Gln456Glu Polymorphism rs1548349 - FRMD3 A2A2Y4 VAR_048366 p.Asp485Tyr Polymorphism rs4877747 - FRMD4A Q9P2Q2 VAR_048367 p.Gln242His Polymorphism rs11258565 - FRMD6-AS1 P0C7T7 VAR_044499 p.Gly115Arg Polymorphism rs11845396 - FRMD7 Q6ZUT3 VAR_028951 p.Gly24Glu Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028952 p.Gly24Arg Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028953 p.Leu142Arg Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028954 p.Asn221Asp Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028955 p.Ala226Thr Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028956 p.Leu231Val Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028957 p.Ala266Pro Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028958 p.Cys271Tyr Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028959 p.Ser281Leu Polymorphism rs5977625 - FRMD7 Q6ZUT3 VAR_028960 p.Tyr301Cys Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028961 p.Ser340Leu Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_028962 p.Arg468His Polymorphism rs6637934 - FRMD7 Q6ZUT3 VAR_062651 p.Gly24Trp Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062652 p.Arg146Trp Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062653 p.Trp225Gly Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062654 p.Arg229Cys Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062655 p.Arg229Gly Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062656 p.Arg261Gly Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062657 p.Arg261Gln Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062658 p.Cys271Phe Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062659 p.His275Pro Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMD7 Q6ZUT3 VAR_062660 p.Gly296Arg Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] FRMPD1 Q5SYB0 VAR_035306 p.Thr6Pro Polymorphism rs3747539 - FRMPD1 Q5SYB0 VAR_035307 p.Ala44Thr Polymorphism rs2296556 - FRMPD1 Q5SYB0 VAR_035308 p.Thr50Asn Polymorphism rs7031966 - FRMPD1 Q5SYB0 VAR_035309 p.Ala225Val Polymorphism rs1359590 - FRMPD1 Q5SYB0 VAR_035310 p.Tyr846Asp Polymorphism rs34233395 - FRMPD1 Q5SYB0 VAR_035311 p.Gly1092Glu Polymorphism rs35075933 - FRMPD1 Q5SYB0 VAR_035445 p.Gly572Asp Unclassified - A breast cancer sample FRMPD2 Q68DX3 VAR_035446 p.Arg727Trp Unclassified - A colorectal cancer sample FRMPD2 Q68DX3 VAR_055540 p.Ala20Thr Polymorphism rs11101272 - FRMPD2 Q68DX3 VAR_055541 p.Lys534Glu Polymorphism rs1864345 - FRMPD2 Q68DX3 VAR_061034 p.Thr239Met Polymorphism rs55802136 - FRMPD2 Q68DX3 VAR_065253 p.Thr1021Lys Polymorphism rs1898784 - FRS2 Q8WU20 VAR_046966 p.Lys303Asn Polymorphism rs12580717 - FRS2 Q8WU20 VAR_046967 p.Asn449Asp Polymorphism rs35232109 - FRS3 O43559 VAR_033855 p.Pro221Leu Polymorphism rs3747747 - FRYL O94915 VAR_053832 p.Ile1878Val Polymorphism rs7670111 - FRY Q5TBA9 VAR_053831 p.Gly1968Ser Polymorphism rs2806639 - FRZB Q92765 VAR_014862 p.Arg324Gly Polymorphism rs7775 - FRZB Q92765 VAR_021411 p.Arg200Trp Polymorphism rs288326 - FSBP O95073 VAR_019301 p.Arg226Lys Polymorphism rs3136422 - FSCB Q5H9T9 VAR_035678 p.Thr262Arg Unclassified - A breast cancer sample FSCB Q5H9T9 VAR_035679 p.Gln764Lys Unclassified - A breast cancer sample FSCB Q5H9T9 VAR_035680 p.Ser775Leu Unclassified - A breast cancer sample FSCB Q5H9T9 VAR_056874 p.Pro119Ser Polymorphism rs36083807 - FSCB Q5H9T9 VAR_056875 p.His195Gln Polymorphism rs3809429 - FSCB Q5H9T9 VAR_056876 p.Leu380Pro Polymorphism rs3825630 - FSCB Q5H9T9 VAR_056877 p.Pro409Ser Polymorphism rs1959379 - FSCB Q5H9T9 VAR_056878 p.Asp423Glu Polymorphism rs3825632 - FSCB Q5H9T9 VAR_056879 p.Ala642Thr Polymorphism rs8009274 - FSCN3 Q9NQT6 VAR_022021 p.Ala24Ser Polymorphism rs3779536 - FSCN3 Q9NQT6 VAR_033939 p.His428Leu Polymorphism rs34394613 - FSD1 Q9BTV5 VAR_038385 p.Leu232Val Polymorphism rs35139245 - FSD2 A1L4K1 VAR_051001 p.Lys333Thr Polymorphism rs4779061 - FSD2 A1L4K1 VAR_051002 p.Glu720Lys Polymorphism rs1108134 - FSHB P01225 VAR_012047 p.Ser20Ile Polymorphism rs6170 - FSHB P01225 VAR_033015 p.Cys69Gly Disease rs5030776 Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070] FSHR P23945 VAR_013903 p.Ala307Thr Polymorphism rs6165 - FSHR P23945 VAR_013904 p.Ser524Arg Polymorphism rs6167 - FSHR P23945 VAR_013905 p.Asn680Ser Polymorphism rs6166 - FSHR P23945 VAR_017244 p.Thr449Ile Disease rs28928870 Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_017245 p.Asp567Asn Disease rs28928871 Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_018045 p.Ile160Thr Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300] FSHR P23945 VAR_018046 p.Ala189Val Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300] FSHR P23945 VAR_018047 p.Ala419Thr Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300] FSHR P23945 VAR_018048 p.Arg573Cys Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300] FSHR P23945 VAR_018049 p.Phe591Ser Unclassified - Ovarian sex cord tumor FSHR P23945 VAR_039279 p.Ser128Tyr Disease - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_039280 p.Asp224Val Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300] FSHR P23945 VAR_039281 p.Pro348Arg Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300] FSHR P23945 VAR_039282 p.Thr449Ala Disease - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_039283 p.Pro519Thr Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300] FSHR P23945 VAR_039284 p.Ile545Thr Disease - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] FSHR P23945 VAR_039285 p.Asp567Gly Unclassified - - FSHR P23945 VAR_039286 p.Leu601Val Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300] FSIP1 Q8NA03 VAR_038124 p.Asn64Asp Polymorphism rs1166719 - FSIP1 Q8NA03 VAR_038125 p.Arg354His Polymorphism rs937961 - FSIP1 Q8NA03 VAR_038126 p.Glu374Gly Polymorphism rs16969673 - FSIP1 Q8NA03 VAR_038127 p.Cys402Arg Polymorphism rs10152640 - FSIP1 Q8NA03 VAR_038128 p.Leu411Phe Polymorphism rs12908846 - FSIP1 Q8NA03 VAR_038129 p.Gly528Ala Polymorphism rs16969386 - FSIP2 Q5CZC0 VAR_042938 p.Met306Val Polymorphism rs9808218 - FSTL4 Q6MZW2 VAR_027727 p.Arg158His Polymorphism rs17683306 - FSTL4 Q6MZW2 VAR_027728 p.Thr757Met Polymorphism rs3749817 - FSTL5 Q8N475 VAR_036135 p.Leu92Ile Unclassified - A colorectal cancer sample FSTL5 Q8N475 VAR_049092 p.Asp711Tyr Polymorphism rs3749598 - FSTL5 Q8N475 VAR_049093 p.Lys815Glu Polymorphism rs17040982 - FST P19883 VAR_049091 p.Glu152Gln Polymorphism rs11745088 - FTCD O95954 VAR_015887 p.Arg135Cys Disease rs28941768 Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100] FTCD O95954 VAR_015888 p.Arg299Pro Disease - Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100] FTCD O95954 VAR_015889 p.Ala438Glu Polymorphism - - FTH1P19 P0C7X4 VAR_045633 p.Arg17His Polymorphism rs7058438 - FTH1P19 P0C7X4 VAR_045634 p.Ala106Pro Polymorphism rs7055365 - FTHL17 Q9BXU8 VAR_033929 p.Gln120His Polymorphism rs16989319 - FTHL17 Q9BXU8 VAR_049060 p.Tyr138His Polymorphism rs17340519 - FTL P02792 VAR_026633 p.Ala96Thr Disease - Neurodegeneration with brain iron accumulation type 3 (NBIA3) [MIM:606159] FTO Q9C0B1 VAR_032078 p.Ala405Val Polymorphism rs16952624 - FTO Q9C0B1 VAR_063252 p.Arg316Gln Disease - Growth retardation developmental delay coarse facies and early death (GDFD) [MIM:612938] FTSJ3 Q8IY81 VAR_023284 p.Gln91Glu Polymorphism rs2584625 - FTSJ3 Q8IY81 VAR_023285 p.Ser424Cys Polymorphism rs2727288 - FTSJD1 Q8IYT2 VAR_039998 p.Leu60Phe Polymorphism rs3096380 - FTSJD1 Q8IYT2 VAR_039999 p.Phe163Tyr Polymorphism rs17853360 - FTSJD1 Q8IYT2 VAR_040000 p.Asn416Ser Polymorphism rs3803704 - FTSJD1 Q8IYT2 VAR_040001 p.Thr608Lys Polymorphism rs3096381 - FTSJD1 Q8IYT2 VAR_040002 p.Phe753Leu Polymorphism rs16970857 - FUBP1 Q96AE4 VAR_049679 p.Ile399Lys Polymorphism rs12748509 - FUCA1 P04066 VAR_002442 p.Gly65Asp Disease - Fucosidosis (FUCA1D) [MIM:230000] FUCA1 P04066 VAR_002443 p.Ser68Leu Disease - Fucosidosis (FUCA1D) [MIM:230000] FUCA1 P04066 VAR_002444 p.Gln286Arg Polymorphism rs13551 - FUCA1 P04066 VAR_016233 p.Pro10Arg Polymorphism rs2070956 - FUCA1 P04066 VAR_016234 p.Cys269Ser Polymorphism rs1126512 - FUCA1 P04066 VAR_016235 p.Leu410Arg Disease - Fucosidosis (FUCA1D) [MIM:230000] FUCA1 P04066 VAR_049106 p.Arg2Trp Polymorphism rs2070955 - FUCA1 P04066 VAR_049107 p.Pro146Leu Polymorphism rs2228424 - FUCA1 P04066 VAR_049108 p.Val260Ile Polymorphism rs665 - FUCA2 Q9BTY2 VAR_022444 p.Met356Val Polymorphism rs3762002 - FUCA2 Q9BTY2 VAR_022445 p.His371Tyr Polymorphism rs3762001 - FUCA2 Q9BTY2 VAR_055822 p.Ala233Glu Polymorphism rs11155297 - FUK Q8N0W3 VAR_021327 p.Val146Met Polymorphism rs17881323 - FUK Q8N0W3 VAR_021328 p.Ala521Thr Polymorphism rs17881069 - FUK Q8N0W3 VAR_021329 p.Arg571His Polymorphism rs17886171 - FUK Q8N0W3 VAR_021330 p.Pro701Leu Polymorphism rs17883716 - FUK Q8N0W3 VAR_021331 p.Ala858Thr Polymorphism rs17884050 - FUK Q8N0W3 VAR_021332 p.Val861Met Polymorphism rs17878599 - FUK Q8N0W3 VAR_021333 p.Arg901Trp Polymorphism rs17881635 - FUK Q8N0W3 VAR_021334 p.Arg939Gln Polymorphism rs17886060 - FUK Q8N0W3 VAR_021335 p.Arg939Trp Polymorphism rs17883248 - FURIN P09958 VAR_051821 p.Ala43Val Polymorphism rs16944971 - FURIN P09958 VAR_055343 p.Trp547Arg Unclassified - - FUS P35637 VAR_035481 p.Lys312Gln Unclassified - A breast cancer sample FUS P35637 VAR_054837 p.Arg244Cys Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054838 p.Arg514Gly Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054839 p.Arg514Ser Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054840 p.Gly515Cys Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054841 p.His517Gln Unclassified - - FUS P35637 VAR_054842 p.Arg518Lys Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054843 p.Arg521Cys Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054844 p.Arg521Gly Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054845 p.Arg521His Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054846 p.Arg522Gly Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054847 p.Arg524Ser Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054848 p.Arg524Thr Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_054849 p.Pro525Leu Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] FUS P35637 VAR_065229 p.Met254Val Unclassified - - FUT10 Q6P4F1 VAR_034759 p.Leu59Phe Polymorphism rs16880994 - FUT10 Q6P4F1 VAR_034760 p.Tyr268His Polymorphism rs16880853 - FUT10 Q6P4F1 VAR_034761 p.Leu368Val Polymorphism rs17855838 - FUT10 Q6P4F1 VAR_034762 p.Arg371Pro Polymorphism rs17855839 - FUT11 Q495W5 VAR_034763 p.Ser51Ala Polymorphism rs17853514 - FUT1 P19526 VAR_003417 p.Tyr154Cys Unclassified - - FUT1 P19526 VAR_003418 p.Trp171Cys Unclassified - - FUT1 P19526 VAR_003419 p.Val259Glu Unclassified - - FUT1 P19526 VAR_003420 p.Ala315Val Unclassified - - FUT1 P19526 VAR_003421 p.Trp349Cys Unclassified - - FUT1 P19526 VAR_009708 p.Leu164His Unclassified - - FUT1 P19526 VAR_009709 p.Leu242Arg Polymorphism rs28934588 - FUT1 P19526 VAR_020536 p.Asp148Tyr Polymorphism rs56346833 - FUT1 P19526 VAR_020537 p.Tyr154His Polymorphism rs55678037 - FUT1 P19526 VAR_020538 p.Tyr241His Polymorphism rs55907428 - FUT1 P19526 VAR_020539 p.Glu348Lys Polymorphism rs56131151 - FUT1 P19526 VAR_022268 p.Ala12Val Polymorphism rs2071699 - FUT2 Q10981 VAR_003422 p.Ile25Val Polymorphism rs1800021 - FUT2 Q10981 VAR_003423 p.Arg138Cys Polymorphism rs1800022 - FUT2 Q10981 VAR_003424 p.Ile140Phe Polymorphism rs1047781 - FUT2 Q10981 VAR_003425 p.Asp172Asn Polymorphism rs1800025 - FUT2 Q10981 VAR_022187 p.Gly258Ser Polymorphism rs602662 - FUT3 P21217 VAR_003426 p.Leu20Arg Polymorphism rs28362459 - FUT3 P21217 VAR_003427 p.Thr105Met Polymorphism rs778986 - FUT3 P21217 VAR_003428 p.Gly170Ser Polymorphism rs28362464 - FUT3 P21217 VAR_003429 p.Asp336Ala Unclassified - - FUT3 P21217 VAR_003430 p.Ile356Lys Polymorphism rs3894326 - FUT3 P21217 VAR_007959 p.Trp68Arg Polymorphism rs812936 - FUT3 P21217 VAR_007960 p.Gln102Lys Polymorphism rs59796499 - FUT3 P21217 VAR_007961 p.Ser124Ala Unclassified - - FUT3 P21217 VAR_007962 p.Asp162Asn Polymorphism rs28362463 - FUT3 P21217 VAR_007963 p.Gly223Arg Polymorphism rs28362466 - FUT3 P21217 VAR_007964 p.Val270Met Polymorphism rs28381968 - FUT3 P21217 VAR_022200 p.Gly5Ser Polymorphism rs28362458 - FUT3 P21217 VAR_022201 p.Arg160Cys Polymorphism rs28362462 - FUT3 P21217 VAR_022202 p.Thr325Met Polymorphism rs28381969 - FUT3 P21217 VAR_022203 p.Arg327Gln Polymorphism rs28381970 - FUT4 P22083 VAR_055844 p.Ile255Val Polymorphism rs2230273 - FUT5 Q11128 VAR_022122 p.Pro187Leu Polymorphism rs778970 - FUT5 Q11128 VAR_055845 p.Thr338Met Polymorphism rs4807054 - FUT6 P51993 VAR_024463 p.Pro124Ser Polymorphism rs778805 - FUT6 P51993 VAR_024464 p.Gln230Lys Polymorphism rs364637 - FUT8 Q9BYC5 VAR_033537 p.Thr267Lys Polymorphism rs35949016 - FUT8 Q9BYC5 VAR_054038 p.Lys101Gln Polymorphism rs2229678 - FUT9 Q9Y231 VAR_024465 p.Thr237Ala Polymorphism rs3811069 - FUT9 Q9Y231 VAR_030575 p.Trp358Gly Polymorphism rs9986564 - FUZ Q9BT04 VAR_037615 p.Ala34Ser Polymorphism rs35138412 - FUZ Q9BT04 VAR_037616 p.Gly175Asp Polymorphism rs35002951 - FUZ Q9BT04 VAR_037617 p.Thr400Ile Polymorphism rs12610577 - FXN Q16595 VAR_002428 p.Asp122Tyr Disease - Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_002429 p.Gly130Val Disease - Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_002430 p.Ile154Phe Disease - Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_002431 p.Trp155Arg Disease - Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_008139 p.Arg165Cys Disease - Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_008140 p.Leu182Phe Disease - Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_016065 p.Leu106Ser Disease - Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_016066 p.Leu198Arg Disease - Friedreich ataxia (FRDA) [MIM:229300] FXN Q16595 VAR_049100 p.Ser202Cys Polymorphism rs1052195 - FXR1 P51114 VAR_014890 p.Ala614Val Polymorphism rs11499 - FXR1 P51114 VAR_016077 p.Asp429Asn Polymorphism rs1051080 - FXR1 P51114 VAR_036050 p.Ala233Thr Unclassified - A breast cancer sample FXR2 P51116 VAR_055979 p.Arg591Pro Polymorphism rs36013555 - FXYD2 P54710 VAR_013280 p.Gly41Arg Disease rs28938168 Hypomagnesemia type 2 (HOMG2) [MIM:154020] FXYD3 Q14802 VAR_049109 p.Gly40Ser Polymorphism rs35578165 - FXYD5 Q96DB9 VAR_012349 p.Ser35Ala Polymorphism rs1688005 - FXYD5 Q96DB9 VAR_027959 p.Arg176His Polymorphism rs12110 - FYB O15117 VAR_056880 p.Pro51Leu Polymorphism rs1642515 - FYB O15117 VAR_056881 p.Lys332Arg Polymorphism rs3749741 - FYB O15117 VAR_060592 p.Val672Phe Polymorphism rs379707 - FYCO1 Q9BQS8 VAR_027006 p.Arg250Gln Polymorphism rs4683158 - FYCO1 Q9BQS8 VAR_027007 p.Arg282His Polymorphism rs9875356 - FYCO1 Q9BQS8 VAR_027008 p.Gly321Ala Polymorphism rs3733100 - FYCO1 Q9BQS8 VAR_027009 p.Thr381Met Polymorphism rs3733101 - FYCO1 Q9BQS8 VAR_027010 p.Ala679Val Polymorphism rs3796375 - FYCO1 Q9BQS8 VAR_027011 p.Asn1001Asp Polymorphism rs13059238 - FYCO1 Q9BQS8 VAR_056882 p.Arg447Cys Polymorphism rs33910087 - FYCO1 Q9BQS8 VAR_056883 p.Glu994Lys Polymorphism rs34801630 - FYN P06241 VAR_014661 p.Ile445Phe Polymorphism rs1801121 - FYN P06241 VAR_041704 p.Val243Leu Unclassified - A lung squamous cell carcinoma sample FYN P06241 VAR_041705 p.Gly410Arg Unclassified - A metastatic melanoma sample FYN P06241 VAR_041706 p.Asp506Glu Polymorphism rs28763975 - FYTTD1 Q96QD9 VAR_062411 p.Arg87His Polymorphism rs3205525 - FZD1 Q9UP38 VAR_049290 p.Val343Met Polymorphism rs3750146 - FZD4 Q9ULV1 VAR_036413 p.Lys436Thr Unclassified - A colorectal cancer sample FZD4 Q9ULV1 VAR_038947 p.Met105Val Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_038948 p.Met157Val Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063920 p.Pro33Ser Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063921 p.Gly36Asp Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063922 p.Glu40Gln Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063923 p.His69Tyr Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063924 p.Met105Thr Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063925 p.Ile114Thr Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063926 p.Pro168Ser Polymorphism - - FZD4 Q9ULV1 VAR_063927 p.Cys181Arg Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063928 p.Lys203Asn Unclassified - - FZD4 Q9ULV1 VAR_063929 p.Cys204Arg Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063930 p.Cys204Tyr Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063931 p.Met223Lys Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063932 p.Ile256Val Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063933 p.Trp335Cys Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063934 p.Met342Val Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063935 p.Ala370Gly Unclassified - - FZD4 Q9ULV1 VAR_063936 p.Arg417Gln Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063937 p.Thr445Pro Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063938 p.Gly488Asp Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063939 p.Ser497Phe Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD4 Q9ULV1 VAR_063940 p.Gly525Arg Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] FZD5 Q13467 VAR_049291 p.Pro216Leu Polymorphism rs35994626 - FZD6 O60353 VAR_047440 p.Met33Val Polymorphism rs827528 - FZD6 O60353 VAR_047441 p.Met345Leu Polymorphism rs3808553 - FZD6 O60353 VAR_047442 p.Ala664Glu Polymorphism rs12549394 - FZD7 O75084 VAR_033024 p.Gly24Ser Polymorphism - - FZD7 O75084 VAR_033941 p.Gly196Glu Polymorphism rs34908164 - FZD7 O75084 VAR_033942 p.Ala487Val Polymorphism rs35600847 - FZD7 O75084 VAR_049292 p.Gly24Asp Polymorphism rs35111363 - G2E3 Q7L622 VAR_027273 p.Arg232His Polymorphism rs17096934 - G3BP2 Q9UN86 VAR_036128 p.Pro434Leu Unclassified - A breast cancer sample G6B O95866 VAR_051004 p.Arg175Gly Polymorphism rs11575845 - G6PC2 Q9NQR9 VAR_043372 p.Ile171Val Polymorphism rs2232322 - G6PC2 Q9NQR9 VAR_043373 p.Tyr207Ser Polymorphism rs2232323 - G6PC2 Q9NQR9 VAR_043374 p.Val219Leu Polymorphism rs492594 - G6PC2 Q9NQR9 VAR_043375 p.Ser324Pro Polymorphism rs2232326 - G6PC2 Q9NQR9 VAR_043376 p.Pro340Leu Polymorphism rs2232327 - G6PC2 Q9NQR9 VAR_043377 p.Ser342Cys Polymorphism rs2232328 - G6PC3 Q9BUM1 VAR_043378 p.Thr216Ile Polymorphism rs34406052 - G6PC3 Q9BUM1 VAR_055156 p.Leu185Pro Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_055157 p.Arg253His Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_055158 p.Gly262Arg Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_064508 p.Met116Lys Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_064509 p.Met116Val Disease - Dursun syndrome (DURSS) [MIM:612541] G6PC3 Q9BUM1 VAR_064510 p.Arg189Gln Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] G6PC3 Q9BUM1 VAR_064511 p.Gly260Arg Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] G6PC P35575 VAR_005237 p.Asp38Val Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005238 p.Trp77Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005239 p.Arg83Cys Disease rs1801175 Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005240 p.Arg83His Disease rs1801176 Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005241 p.Arg83Ile Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005242 p.Glu110Lys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005243 p.Ala124Thr Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005244 p.Val166Gly Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005245 p.Gly184Glu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005246 p.Gly188Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005247 p.Leu211Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005248 p.Gly222Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005249 p.Gly266Val Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005250 p.Gly270Val Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005251 p.Arg295Cys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005253 p.Val338Phe Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_005254 p.Ile341Asn Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_009202 p.Gln20Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_009203 p.Gln54Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_009204 p.Gly81Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_009205 p.Thr108Ile Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_009206 p.Trp156Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_009207 p.Gly188Asp Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_035922 p.Pro116Leu Unclassified - A breast cancer sample G6PC P35575 VAR_046249 p.Met5Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046250 p.Thr16Ala Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046251 p.Thr16Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046252 p.Trp63Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046253 p.Ala65Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046254 p.Gly68Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046255 p.Lys76Asn Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046256 p.Thr111Ile Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046257 p.Pro113Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046258 p.His119Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046259 p.Gly122Asp Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046260 p.Val166Ala Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046261 p.Arg170Gln Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046262 p.Phe177Cys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046263 p.Pro178Ser Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046264 p.His179Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046265 p.Gly184Val Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046266 p.Gly188Ser Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046268 p.Tyr209Cys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046269 p.Trp236Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046270 p.Ala241Thr Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046271 p.Pro257Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046272 p.Asn264Lys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046273 p.Leu265Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046274 p.Gly270Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046275 p.Gly270Trp Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046276 p.Ser298Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046277 p.Phe322Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_046278 p.Leu345Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_065164 p.Pro178Ala Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PC P35575 VAR_065165 p.Thr255Ile Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200] G6PD P11413 VAR_002450 p.Val12Leu Unclassified - - G6PD P11413 VAR_002451 p.His32Arg Unclassified - - G6PD P11413 VAR_002453 p.Ala44Gly Unclassified - - G6PD P11413 VAR_002454 p.Ile48Thr Unclassified - - G6PD P11413 VAR_002455 p.Asp58Asn Unclassified - - G6PD P11413 VAR_002456 p.Val68Met Polymorphism rs1050828 - G6PD P11413 VAR_002457 p.Tyr70His Unclassified - - G6PD P11413 VAR_002458 p.Leu75Pro Unclassified - - G6PD P11413 VAR_002459 p.Arg81His Unclassified - - G6PD P11413 VAR_002460 p.Arg81Cys Unclassified - - G6PD P11413 VAR_002461 p.Ser106Cys Unclassified - - G6PD P11413 VAR_002462 p.Asn126Asp Polymorphism rs1050829 - G6PD P11413 VAR_002463 p.Leu128Pro Unclassified - - G6PD P11413 VAR_002464 p.Gly131Val Unclassified - - G6PD P11413 VAR_002465 p.Glu156Lys Unclassified - - G6PD P11413 VAR_002466 p.Gly163Ser Unclassified - - G6PD P11413 VAR_002467 p.Gly163Asp Unclassified - - G6PD P11413 VAR_002468 p.Asn165Asp Unclassified - - G6PD P11413 VAR_002469 p.Arg166His Unclassified - - G6PD P11413 VAR_002470 p.Asp176Gly Unclassified - - G6PD P11413 VAR_002471 p.Asp181Val Polymorphism rs5030872 - G6PD P11413 VAR_002472 p.Arg182Trp Unclassified - - G6PD P11413 VAR_002473 p.Ser188Phe Polymorphism rs5030868 - G6PD P11413 VAR_002474 p.Arg198Cys Unclassified - - G6PD P11413 VAR_002475 p.Arg198Pro Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] G6PD P11413 VAR_002476 p.Met212Val Unclassified - - G6PD P11413 VAR_002477 p.Val213Leu Unclassified - - G6PD P11413 VAR_002478 p.Phe216Leu Unclassified - - G6PD P11413 VAR_002479 p.Arg227Gln Unclassified - - G6PD P11413 VAR_002480 p.Arg227Leu Unclassified - - G6PD P11413 VAR_002482 p.Arg257Gly Unclassified - - G6PD P11413 VAR_002483 p.Glu274Lys Unclassified - - G6PD P11413 VAR_002484 p.Ser278Phe Unclassified - - G6PD P11413 VAR_002485 p.Thr279Ser Unclassified - - G6PD P11413 VAR_002486 p.Asp282His Unclassified - - G6PD P11413 VAR_002487 p.Arg285His Unclassified - - G6PD P11413 VAR_002488 p.Val291Met Unclassified - - G6PD P11413 VAR_002489 p.Glu317Lys Unclassified - - G6PD P11413 VAR_002490 p.Leu323Pro Unclassified - - G6PD P11413 VAR_002491 p.Ala335Thr Polymorphism rs5030869 - G6PD P11413 VAR_002492 p.Leu342Phe Unclassified - - G6PD P11413 VAR_002493 p.Pro353Ser Unclassified - - G6PD P11413 VAR_002494 p.Asn363Lys Unclassified - - G6PD P11413 VAR_002495 p.Cys385Arg Unclassified - - G6PD P11413 VAR_002496 p.Lys386Glu Unclassified - - G6PD P11413 VAR_002497 p.Arg387His Unclassified - - G6PD P11413 VAR_002498 p.Arg387Cys Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] G6PD P11413 VAR_002499 p.Arg393His Unclassified - - G6PD P11413 VAR_002500 p.Val394Leu Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] G6PD P11413 VAR_002501 p.Pro396Leu Unclassified - - G6PD P11413 VAR_002502 p.Glu398Lys Unclassified - - G6PD P11413 VAR_002503 p.Gly410Cys Unclassified - - G6PD P11413 VAR_002504 p.Gly410Asp Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] G6PD P11413 VAR_002505 p.Glu416Lys Unclassified - - G6PD P11413 VAR_002506 p.Arg439Pro Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] G6PD P11413 VAR_002507 p.Leu440Phe Unclassified - - G6PD P11413 VAR_002508 p.Gly447Arg Unclassified - - G6PD P11413 VAR_002509 p.Gln449His Unclassified - - G6PD P11413 VAR_002510 p.Arg454Cys Unclassified - - G6PD P11413 VAR_002511 p.Arg454His Unclassified - - G6PD P11413 VAR_002512 p.Arg459Leu Unclassified - - G6PD P11413 VAR_002513 p.Arg459Pro Unclassified - - G6PD P11413 VAR_002514 p.Arg463His Unclassified - - G6PD P11413 VAR_002515 p.Gly488Val Unclassified - - G6PD P11413 VAR_020535 p.Tyr322His Unclassified - - GAA P10253 VAR_004285 p.Asp91Asn Polymorphism rs1800299 - GAA P10253 VAR_004286 p.His199Arg Polymorphism rs1042393 - GAA P10253 VAR_004287 p.Arg223His Polymorphism rs1042395 - GAA P10253 VAR_004288 p.Leu299Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004289 p.Met318Thr Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004290 p.Trp402Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004291 p.Gly478Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004292 p.Trp481Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004293 p.Met519Thr Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004294 p.Met519Val Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004295 p.Glu521Lys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004296 p.Ser529Val Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004297 p.Pro545Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004298 p.Ser566Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004299 p.Gly576Ala Polymorphism - - GAA P10253 VAR_004300 p.Gly576Ser Polymorphism rs1800307 - GAA P10253 VAR_004301 p.Gly643Arg Disease rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004302 p.Asp645Glu Disease rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004303 p.Asp645His Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004304 p.Asp645Asn Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004305 p.Cys647Trp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004306 p.Gly648Ser Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004307 p.Arg672Gln Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004308 p.Arg672Trp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004309 p.Glu689Lys Polymorphism rs1800309 - GAA P10253 VAR_004310 p.Arg725Trp Disease rs28939100 Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004311 p.Trp746Cys Polymorphism rs1800312 - GAA P10253 VAR_004312 p.Pro768Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_004313 p.Val780Ile Polymorphism rs1126690 - GAA P10253 VAR_004314 p.Val816Ile Polymorphism rs1800314 - GAA P10253 VAR_004317 p.Thr927Ile Polymorphism rs1800315 - GAA P10253 VAR_004318 p.Val949Asp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_008689 p.Arg600His Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_008690 p.Gly615Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018078 p.Cys103Gly Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018079 p.Gly219Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018080 p.Pro285Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018081 p.Tyr292Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018082 p.Gly293Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018083 p.His308Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018084 p.Gly309Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018085 p.Leu312Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018086 p.Leu355Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018087 p.Cys374Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018088 p.Leu405Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018089 p.Tyr455Phe Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018091 p.Gly549Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018092 p.Leu552Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018093 p.Tyr575Ser Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018094 p.Glu579Lys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018095 p.Arg600Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018096 p.Gly607Asp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_018097 p.Ala880Asp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029025 p.Leu208Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029026 p.Arg224Trp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029027 p.Ala237Val Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029028 p.Glu262Lys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029029 p.Pro324Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029030 p.Trp330Gly Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029031 p.Pro361Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029032 p.Gly377Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029033 p.Asp404Asn Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029034 p.Met408Val Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029035 p.Arg437Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029036 p.Ala445Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029037 p.Asp489Asn Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029038 p.His612Gln Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029039 p.Leu901Gln Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_029040 p.Pro457Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046467 p.Tyr191Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046468 p.His308Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046469 p.Arg375Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046470 p.Gln401Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046471 p.Pro522Ala Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046472 p.Arg585Met Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046473 p.Ser599Tyr Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046475 p.Ser619Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046476 p.Gly638Trp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046477 p.Arg660His Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046478 p.Arg672Thr Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAA P10253 VAR_046479 p.Arg702Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300] GAB1 Q13480 VAR_025261 p.Pro311Leu Polymorphism rs28925904 - GAB1 Q13480 VAR_036132 p.Tyr83Cys Unclassified - A breast cancer sample GAB1 Q13480 VAR_036133 p.Thr387Asn Unclassified - A breast cancer sample GAB1 Q13480 VAR_053096 p.Thr377Ile Polymorphism rs2229879 - GAB2 Q9UQC2 VAR_020407 p.Pro344Leu Polymorphism rs2279374 - GAB2 Q9UQC2 VAR_053097 p.Pro320Leu Polymorphism rs2279374 - GAB3 Q8WWW8 VAR_038917 p.Pro237Ser Polymorphism rs17281349 - GAB4 Q2WGN9 VAR_053098 p.Leu273Pro Polymorphism rs11703655 - GABARAPL2 P60520 VAR_049756 p.Val51Ala Polymorphism rs11556291 - GABBR1 Q9UBS5 VAR_010146 p.Ala20Val Polymorphism rs1805056 - GABBR1 Q9UBS5 VAR_010147 p.Gly489Ser Polymorphism rs1805057 - GABBR1 Q9UBS5 VAR_049279 p.Phe645Leu Polymorphism rs2076489 - GABBR2 O75899 VAR_010148 p.Tyr628Phe Polymorphism - - GABBR2 O75899 VAR_010149 p.Thr869Ala Polymorphism rs10985765 - GABBR2 O75899 VAR_049280 p.Leu163Pro Polymorphism rs35449008 - GABPA Q06546 VAR_020315 p.Ala291Val Polymorphism rs2829897 - GABPA Q06546 VAR_020316 p.Glu345Lys Polymorphism rs2829900 - GABPB1 Q06547 VAR_035613 p.Pro31Ala Unclassified - A colorectal cancer sample GABPB2 Q8TAK5 VAR_039950 p.Val62Ile Polymorphism rs11204774 - GABRA1 P14867 VAR_013642 p.Ala322Asp Disease - Juvenile myoclonic epilepsy type 5 (EJM5) [MIM:611136] GABRA4 P48169 VAR_036032 p.Ser516Arg Unclassified - A breast cancer sample GABRA4 P48169 VAR_046552 p.Ala19Thr Polymorphism rs16859837 - GABRA4 P48169 VAR_046553 p.Leu26Met Polymorphism rs2229940 - GABRA6 Q16445 VAR_036033 p.Pro180His Unclassified - A colorectal cancer sample GABRA6 Q16445 VAR_036782 p.Thr187Met Polymorphism rs3811993 - GABRA6 Q16445 VAR_036783 p.Pro404Ser Polymorphism rs34907804 - GABRB1 P18505 VAR_000302 p.His421Gln Polymorphism rs41311286 - GABRB1 P18505 VAR_035441 p.Ile429Asn Polymorphism rs17852014 - GABRB3 P28472 VAR_047957 p.Gly32Arg Disease - Childhood absence epilepsy type 5 (ECA5) [MIM:612269] GABRB3 P28472 VAR_047958 p.Gln173Leu Polymorphism rs17850679 - GABRB3 P28472 VAR_047959 p.Arg217His Unclassified - - GABRD O14764 VAR_043151 p.Glu177Ala Disease - Generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:613060] GABRD O14764 VAR_043152 p.Arg220Cys Polymorphism - - GABRD O14764 VAR_043153 p.Arg220His Polymorphism rs41307846 - GABRE P78334 VAR_048175 p.Ser102Ala Polymorphism rs1139916 - GABRG1 Q8N1C3 VAR_047056 p.Gly403Glu Polymorphism rs17852913 - GABRG2 P18507 VAR_014265 p.Arg82Gln Disease rs28933070 Childhood absence epilepsy type 2 (ECA2) [MIM:607681] GABRG2 P18507 VAR_014265 p.Arg82Gln Disease rs28933070 Familial febrile convulsions type 8 (FEB8) [MIM:611277] GABRG2 P18507 VAR_014266 p.Lys328Met Disease - Generalized epilepsy with febrile seizures plus type 3 (GEFS+3) [MIM:611277] GABRG2 P18507 VAR_038602 p.Arg177Gly Disease - Familial febrile convulsions type 8 (FEB8) [MIM:611277] GABRG2 P18507 VAR_065163 p.His357Arg Polymorphism rs17855003 - GABRG2 P18507 VAR_065226 p.Asn79Ser Unclassified - - GABRG3 Q99928 VAR_033957 p.Thr352Ala Polymorphism rs2066712 - GABRP O00591 VAR_020323 p.Phe391Leu Polymorphism rs1063310 - GABRP O00591 VAR_036034 p.His416Arg Unclassified - A breast cancer sample GABRQ Q9UN88 VAR_030761 p.Leu15Ile Polymorphism rs4996045 - GABRQ Q9UN88 VAR_030762 p.Phe478Ile Polymorphism rs3810651 - GABRR1 P24046 VAR_024361 p.His27Arg Polymorphism rs1186902 - GABRR1 P24046 VAR_054426 p.Met26Val Polymorphism rs12200969 - GAD1 Q99259 VAR_011882 p.Val474Gly Polymorphism rs769403 - GAD1 Q99259 VAR_011883 p.Arg532Gln Polymorphism rs769402 - GAD1 Q99259 VAR_011884 p.Phe565Leu Polymorphism rs1049736 - GAD1 Q99259 VAR_018861 p.Ile228Leu Polymorphism rs45566933 - GAD1 Q99259 VAR_031021 p.Ser12Cys Disease - Cerebral palsy spastic quadriplegic type 1 (CPSQ1) [MIM:603513] GAD2 Q05329 VAR_018821 p.Gly12Arg Polymorphism rs8190591 - GAD2 Q05329 VAR_018822 p.Lys124Asn Polymorphism rs8190600 - GAD2 Q05329 VAR_018823 p.Lys286Arg Polymorphism rs8190671 - GAD2 Q05329 VAR_018824 p.Arg375Gln Polymorphism rs8190730 - GAD2 Q05329 VAR_029176 p.Pro153Gln Polymorphism rs2839672 - GAD2 Q05329 VAR_029177 p.Gly232Glu Polymorphism rs2839673 - GAD2 Q05329 VAR_029178 p.Gly326Ala Polymorphism rs2839678 - GADD45G O95257 VAR_018888 p.Gly112Ser Polymorphism rs3138505 - GAGE12J A6NER3 VAR_037385 p.Tyr9Cys Polymorphism rs7064096 - GAGE12J A6NER3 VAR_037386 p.Arg13Ser Polymorphism rs7064105 - GAGE12J A6NER3 VAR_037387 p.Pro16Arg Polymorphism rs6520418 - GAGE12J A6NER3 VAR_043979 p.Arg28Gln Polymorphism rs7064530 - GAK O14976 VAR_040505 p.Ser144Leu Polymorphism - - GAK O14976 VAR_040506 p.Val580Met Polymorphism rs34255232 - GAK O14976 VAR_040507 p.Asp787Tyr Polymorphism rs34585705 - GAK O14976 VAR_040508 p.Gln877Arg Polymorphism - - GAK O14976 VAR_040509 p.Gly962Asp Unclassified - A lung neuroendocrine carcinoma sample GAK O14976 VAR_040510 p.Thr1051Met Polymorphism rs35227944 - GAK O14976 VAR_040511 p.Gln1120His Polymorphism rs55801437 - GAK O14976 VAR_040512 p.Pro1137Leu Polymorphism rs56169884 - GAK O14976 VAR_040513 p.Ser1168Asn Polymorphism rs56326341 - GAK O14976 VAR_040514 p.Lys1265Arg Polymorphism rs2306242 - GAK O14976 VAR_040515 p.Asp1297Asn Polymorphism rs1134921 - GAL3ST1 Q99999 VAR_013684 p.Val29Met Polymorphism rs2267161 - GAL3ST2 Q9H3Q3 VAR_047060 p.Met4Leu Polymorphism rs12469459 - GAL3ST3 Q96A11 VAR_053988 p.Ala221Asp Polymorphism rs35285455 - GAL3ST3 Q96A11 VAR_053989 p.Glu410Ala Polymorphism rs4565902 - GAL3ST4 Q96RP7 VAR_021989 p.Arg353Gln Polymorphism rs3800952 - GAL3ST4 Q96RP7 VAR_033736 p.Ala467Val Polymorphism rs3823646 - GALC P54803 VAR_003380 p.Gly111Asp Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003381 p.Gly111Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003382 p.Thr112Ala Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003383 p.Met117Leu Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003384 p.Asp187Val Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003385 p.Gly194Ala Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003386 p.Asp248Asn Polymorphism rs34362748 - GALC P54803 VAR_003387 p.Ile250Thr Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003388 p.Ala263Thr Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003389 p.Gly284Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003390 p.Gly286Asp Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003391 p.Asn295Thr Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003392 p.Ser303Phe Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003393 p.Pro318Ala Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003394 p.Arg396Trp Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003395 p.Pro400Leu Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003396 p.Thr468Ser Disease rs34134328 Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003397 p.Phe514Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003398 p.Thr529Met Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003399 p.Arg531Cys Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003400 p.Asp544Asn Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003401 p.Ile562Thr Polymorphism rs398607 - GALC P54803 VAR_003402 p.Val566Gly Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003403 p.Tyr567Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003404 p.Ala592Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003405 p.Ile599Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_003406 p.Ala641Thr Polymorphism rs421262 - GALC P54803 VAR_003407 p.Leu645Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013956 p.Gly59Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013957 p.Ser68Phe Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013958 p.Arg79His Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013959 p.Ile82Met Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013960 p.Arg184Cys Polymorphism rs1805078 - GALC P54803 VAR_013961 p.Thr278Ile Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013962 p.Ile305Val Polymorphism rs1805079 - GALC P54803 VAR_013963 p.Tyr314Cys Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013964 p.Tyr335Cys Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013965 p.Trp426Gly Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013966 p.Arg531His Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013967 p.Gly553Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013968 p.Leu634Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_013969 p.Thr668Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_064430 p.Ala21Pro Polymorphism - - GALC P54803 VAR_064431 p.Gly41Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_064432 p.Glu130Lys Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_064433 p.Pro318Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_064434 p.Gly323Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_064435 p.Ile384Thr Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_064436 p.Arg396Leu Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALC P54803 VAR_064437 p.Tyr490Asn Disease - Leukodystrophy globoid cell (GLD) [MIM:245200] GALE Q14376 VAR_002539 p.Asn34Ser Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_002540 p.Gly90Glu Disease rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_002541 p.Asp103Gly Disease rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_002542 p.Ala180Val Polymorphism rs3204468 - GALE Q14376 VAR_002543 p.Leu183Pro Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_002544 p.Lys257Arg Disease rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_002545 p.Leu313Met Disease rs3180383 Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_002546 p.Gly319Glu Disease rs28940885 Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_010058 p.Val94Met Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_037733 p.Ala25Val Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_037734 p.Arg40Cys Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_037735 p.Asp69Glu Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_037736 p.Glu165Lys Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_037737 p.Arg169Trp Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_037738 p.Arg239Trp Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_037739 p.Gly302Asp Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALE Q14376 VAR_037740 p.Arg335His Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350] GALK1 P51570 VAR_002547 p.Val32Met Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_008514 p.Pro28Thr Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_015746 p.Ala198Val Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_023486 p.Gly36Arg Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_023487 p.His44Tyr Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_023488 p.Arg68Cys Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_023489 p.Ile184Met Polymorphism - - GALK1 P51570 VAR_023490 p.Arg239Gln Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_023491 p.Gly274Asp Polymorphism - - GALK1 P51570 VAR_023492 p.Thr288Met Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_023493 p.Val338Ala Polymorphism - - GALK1 P51570 VAR_023494 p.Gly346Ser Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_023495 p.Gly349Ser Disease - Galactosemia II (GALCT2) [MIM:230200] GALK1 P51570 VAR_023496 p.Ala384Pro Disease - Galactosemia II (GALCT2) [MIM:230200] GALK2 Q01415 VAR_049123 p.Ile182Val Polymorphism rs35507772 - GALM Q96C23 VAR_024451 p.Asn190Tyr Polymorphism rs6741892 - GALNS P34059 VAR_007172 p.Gly47Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007173 p.Asp60Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007174 p.Leu67Met Polymorphism rs11862754 - GALNS P34059 VAR_007175 p.Pro77Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007177 p.Ser80Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007178 p.Arg90Trp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007179 p.Arg94Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007180 p.Arg94Gly Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007181 p.Gly96Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007182 p.Gly96Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007183 p.Phe97Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007184 p.Gln111Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007185 p.Ile113Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007186 p.Pro125Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007187 p.Ser135Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007188 p.Val138Ala Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007189 p.Gly139Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007190 p.Trp141Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007191 p.Pro151Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007192 p.Pro151Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007193 p.Gly155Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007194 p.Phe156Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007195 p.Phe156Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007196 p.His166Gln Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007197 p.Gly168Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007198 p.Ile178Val Polymorphism - - GALNS P34059 VAR_007199 p.Pro179His Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007200 p.Pro179Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007201 p.Glu185Gly Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007202 p.Thr200Met Polymorphism rs7187889 - GALNS P34059 VAR_007203 p.Asn204Lys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007204 p.Trp230Gly Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007205 p.Ala231Gly Polymorphism rs34745339 - GALNS P34059 VAR_007206 p.Gly247Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007207 p.Ala257Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007208 p.Arg259Gln Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007210 p.Phe284Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007211 p.Ser287Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007212 p.Gly290Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007213 p.Ala291Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007214 p.Ala291Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007215 p.Ser295Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007216 p.Gly301Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007217 p.Gly309Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007218 p.Thr312Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007219 p.Met318Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007221 p.Met343Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007222 p.Asp344Glu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007223 p.Asp344Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007224 p.Phe346Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007225 p.Ala351Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007226 p.Arg361Gly Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007227 p.Arg376Gln Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007228 p.Arg386Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007229 p.Met391Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007230 p.Ala393Ser Polymorphism rs2303269 - GALNS P34059 VAR_007231 p.Leu395Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007232 p.Leu395Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007233 p.Asn407His Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007234 p.Trp409Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007235 p.Glu450Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007236 p.Ala459Val Polymorphism - - GALNS P34059 VAR_007237 p.Asn487Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_007238 p.Val488Met Polymorphism - - GALNS P34059 VAR_007239 p.Met494Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024873 p.Leu15Met Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024875 p.Gly23Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024876 p.Leu36Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024877 p.Met41Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024878 p.Gly42Glu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024880 p.Ser53Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024881 p.Arg61Trp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024882 p.Phe69Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024884 p.Cys79Tyr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024885 p.Arg94Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024886 p.Ala107Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024887 p.Gly116Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024888 p.Trp141Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024889 p.His150Tyr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024890 p.Gly155Glu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024891 p.Ser162Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024892 p.Asn164Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024893 p.Phe167Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024894 p.Asp171Ala Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024895 p.Pro179Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024896 p.Ala203Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024897 p.Asp233Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024898 p.Val239Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024899 p.Arg253Trp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024900 p.Glu260Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024902 p.Leu307Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024903 p.Lys310Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024904 p.Trp325Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024905 p.Gly340Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024906 p.Ser341Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024907 p.Leu345Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024908 p.Leu352Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024909 p.Pro357Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024910 p.Leu369Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024911 p.Arg380Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024912 p.Arg380Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024913 p.Arg386His Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024914 p.Asp388Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024915 p.Ala392Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024916 p.His398Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024917 p.His401Tyr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024919 p.Phe452Ile Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024920 p.Ser470Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_024921 p.Pro484Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] GALNS P34059 VAR_036493 p.Pro510Thr Unclassified - A colorectal cancer sample GALNT11 Q8NCW6 VAR_019589 p.Pro151Ser Polymorphism rs6464201 - GALNT11 Q8NCW6 VAR_019590 p.Asp197Tyr Polymorphism rs3778922 - GALNT12 Q8IXK2 VAR_064352 p.Gly3Glu Polymorphism - - GALNT12 Q8IXK2 VAR_064353 p.Gly46Arg Polymorphism - - GALNT12 Q8IXK2 VAR_064354 p.Glu119Val Polymorphism - - GALNT12 Q8IXK2 VAR_064355 p.Asp261Asn Polymorphism - - GALNT12 Q8IXK2 VAR_064356 p.Gly272Arg Polymorphism - - GALNT12 Q8IXK2 VAR_064357 p.Arg297Trp Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064358 p.Asp303Asn Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064359 p.Glu341Asp Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064360 p.Arg373His Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064361 p.Arg382His Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064362 p.Cys479Phe Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064363 p.Thr491Met Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812] GALNT12 Q8IXK2 VAR_064364 p.Arg552Lys Polymorphism - - GALNT13 Q8IUC8 VAR_049242 p.Glu59Asp Polymorphism rs34086479 - GALNT14 Q96FL9 VAR_033948 p.Gln469Lys Polymorphism rs2288101 - GALNT1 Q10472 VAR_033946 p.Tyr414Asp Polymorphism rs34304568 - GALNT2 Q10471 VAR_019575 p.Val554Met Polymorphism rs2273970 - GALNT2 Q10471 VAR_049240 p.Arg245His Polymorphism rs1923950 - GALNT4 Q8N4A0 VAR_019576 p.Ile270Thr Polymorphism rs2230281 - GALNT4 Q8N4A0 VAR_019577 p.Val506Ile Polymorphism rs2230283 - GALNT4 Q8N4A0 VAR_065257 p.Asp51Gly Polymorphism rs17853610 - GALNT5 Q7Z7M9 VAR_019578 p.Pro77Leu Polymorphism rs3739112 - GALNT5 Q7Z7M9 VAR_019579 p.Gln489His Polymorphism rs6759356 - GALNT5 Q7Z7M9 VAR_035991 p.Glu507Asp Unclassified - A breast cancer sample GALNT5 Q7Z7M9 VAR_035992 p.Leu692Phe Unclassified - A breast cancer sample GALNT6 Q8NCL4 VAR_019580 p.Val423Ile Polymorphism rs747300 - GALNT8 Q9NY28 VAR_019581 p.Tyr53Asp Polymorphism rs10849133 - GALNT8 Q9NY28 VAR_019582 p.Tyr53Asn Polymorphism - - GALNT8 Q9NY28 VAR_019583 p.Glu267Gly Polymorphism rs34776842 - GALNT8 Q9NY28 VAR_019584 p.Phe312Ser Polymorphism rs34829532 - GALNT8 Q9NY28 VAR_019585 p.Ala337Val Polymorphism - - GALNT8 Q9NY28 VAR_019586 p.Asp438Gly Polymorphism - - GALNT8 Q9NY28 VAR_019587 p.Val515Phe Polymorphism rs1468556 - GALNT8 Q9NY28 VAR_019588 p.Val611Met Polymorphism rs34114277 - GALNT8 Q9NY28 VAR_033947 p.Glu234Lys Polymorphism rs16931676 - GALNT8 Q9NY28 VAR_049241 p.Asp630Gly Polymorphism rs16931692 - GALNTL1 Q8N428 VAR_055848 p.Val201Met Polymorphism rs12879377 - GALNTL1 Q8N428 VAR_061195 p.Pro497Ser Polymorphism rs59840366 - GALNTL2 Q8N3T1 VAR_019593 p.His510Tyr Polymorphism rs2271077 - GALNTL2 Q8N3T1 VAR_049243 p.Val68Gly Polymorphism rs36026882 - GALNTL2 Q8N3T1 VAR_049244 p.Pro151Leu Polymorphism rs11715981 - GALNTL2 Q8N3T1 VAR_049245 p.Pro324Ala Polymorphism rs12634179 - GALNTL2 Q8N3T1 VAR_049246 p.Ala432Thr Polymorphism rs17851238 - GALNTL5 Q7Z4T8 VAR_019592 p.Cys124Arg Polymorphism rs6960270 - GAL P22466 VAR_049121 p.Ala16Val Polymorphism rs34725707 - GALP Q9UBC7 VAR_020426 p.Ile72Met Polymorphism rs3745833 - GALR1 P47211 VAR_003514 p.Trp15Cys Polymorphism rs1143093 - GALR1 P47211 VAR_014682 p.Ser334Asn Polymorphism rs5376 - GALR1 P47211 VAR_014683 p.Pro342Leu Polymorphism rs5377 - GALR3 O60755 VAR_049387 p.Arg342Gly Polymorphism rs8137541 - GALR3 O60755 VAR_059322 p.Gln349Arg Polymorphism rs8137553 - GALT P07902 VAR_002548 p.Asp28Tyr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002549 p.Ile32Asn Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002550 p.Gln38Pro Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002551 p.Val44Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002552 p.Val44Met Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002553 p.Arg51Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002554 p.Gly55Cys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002555 p.Leu62Met Polymorphism rs1800461 - GALT P07902 VAR_002556 p.Arg67Cys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002557 p.Leu74Pro Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002558 p.Ala81Thr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002559 p.Asn97Ser Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002560 p.Asp98Asn Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002561 p.Asp113Asn Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002562 p.His114Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002563 p.Phe117Ser Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002564 p.Gln118His Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002565 p.Arg123Gly Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002566 p.Arg123Gln Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002567 p.Val125Ala Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002568 p.Lys127Glu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002569 p.Cys130Tyr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002570 p.His132Tyr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002571 p.Ser135Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002572 p.Thr138Met Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002573 p.Leu139Pro Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002574 p.Met142Lys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002575 p.Met142Val Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002576 p.Ser143Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002577 p.Arg148Gly Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002578 p.Arg148Gln Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002579 p.Arg148Trp Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002580 p.Val150Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002581 p.Val151Ala Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002582 p.Trp154Gly Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002583 p.Phe171Ser Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002584 p.Gly179Asp Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002585 p.Pro183Thr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002586 p.His184Gln Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002587 p.Gln188Arg Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002588 p.Ser192Asn Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002589 p.Phe194Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002590 p.Leu195Pro Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002591 p.Ile198Met Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002592 p.Ile198Thr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002593 p.Ala199Thr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002594 p.Arg201His Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002595 p.Glu203Lys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002596 p.Tyr209Cys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002597 p.Tyr209Ser Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002598 p.Gln212His Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002599 p.Leu217Pro Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002600 p.Leu226Pro Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002601 p.Arg231His Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002602 p.Trp249Arg Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002603 p.Tyr251Cys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002604 p.Tyr251Ser Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002605 p.Arg258Cys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002606 p.Arg259Trp Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002607 p.Arg262Pro Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002608 p.Leu282Val Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002609 p.Lys285Asn Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002610 p.Leu289Arg Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002611 p.Glu291Lys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002612 p.Glu308Lys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002613 p.Asn314Asp Polymorphism rs2070074 - GALT P07902 VAR_002614 p.Gln317His Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002615 p.Gln317Arg Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002616 p.His319Gln Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002617 p.Ala320Thr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002618 p.Tyr323Asp Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002619 p.Tyr323His Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002620 p.Pro324Ser Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002621 p.Pro325Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002622 p.Arg328His Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002623 p.Ser329Phe Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002624 p.Ala330Val Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002625 p.Arg333Gly Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002626 p.Arg333Gln Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002627 p.Arg333Trp Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002628 p.Lys334Arg Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002629 p.Met336Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002630 p.Gln344Lys Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_002631 p.Thr350Ala Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_008042 p.Ser45Leu Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_008043 p.Met129Thr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_008044 p.Trp167Arg Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_008045 p.Arg204Pro Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_008047 p.Arg272Gly Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_008048 p.Phe294Tyr Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_023328 p.Arg51Gln Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_023329 p.Ser135Trp Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_023330 p.Lys229Asn Disease - Galactosemia (GALCT) [MIM:230400] GALT P07902 VAR_023331 p.Gln252His Disease - Galactosemia (GALCT) [MIM:230400] GAMT Q14353 VAR_025723 p.Thr209Met Polymorphism rs17851582 - GAMT Q14353 VAR_058102 p.Trp20Ser Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] GAMT Q14353 VAR_058103 p.Met50Leu Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] GAMT Q14353 VAR_058104 p.His51Pro Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] GAMT Q14353 VAR_058105 p.Ala54Pro Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] GAMT Q14353 VAR_058106 p.Cys169Tyr Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] GAMT Q14353 VAR_058107 p.Leu197Pro Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] GANAB Q14697 VAR_022086 p.Arg173Gln Polymorphism rs2276295 - GANAB Q14697 VAR_024529 p.Arg154Trp Polymorphism rs2276296 - GANAB Q14697 VAR_050272 p.Arg309Cys Polymorphism rs1063445 - GANC Q8TET4 VAR_018984 p.Leu11Val Polymorphism rs8043515 - GANC Q8TET4 VAR_018985 p.Gln44Arg Polymorphism rs8024732 - GANC Q8TET4 VAR_018986 p.Ile153Met Polymorphism - - GANC Q8TET4 VAR_018987 p.Asp443Glu Polymorphism rs2578652 - GANC Q8TET4 VAR_018988 p.Phe845Ser Polymorphism rs7181742 - GANC Q8TET4 VAR_018989 p.Gln848Arg Polymorphism rs7180279 - GANC Q8TET4 VAR_056237 p.Ile166Val Polymorphism rs16973015 - GAN Q9H2C0 VAR_010757 p.Glu486Lys Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_010759 p.Arg15Ser Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_010760 p.Ser52Gly Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_010761 p.Ser79Leu Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_010762 p.Val82Phe Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_010763 p.Arg138His Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_010764 p.Arg269Gln Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_010765 p.Leu309Arg Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_010766 p.Arg545Cys Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_010767 p.Cys570Tyr Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_015560 p.Ile423Thr Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_015680 p.Ile86Phe Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_015681 p.Gly368Arg Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_054113 p.Ala51Pro Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_054114 p.Tyr89Cys Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_054115 p.Val195Phe Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_054116 p.Pro315Leu Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_054117 p.Gly474Arg Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAN Q9H2C0 VAR_054118 p.Arg545His Disease - Giant axonal neuropathy (GAN) [MIM:256850] GAP43 P17677 VAR_014172 p.Val59Ile Polymorphism rs6291 - GAP43 P17677 VAR_050271 p.Lys162Glu Polymorphism rs11557762 - GAPDH P04406 VAR_018889 p.Ala22Gly Polymorphism rs45541435 - GAPDH P04406 VAR_049218 p.Lys251Asn Polymorphism rs1062429 - GAPDHS O14556 VAR_049219 p.Asp110Asn Polymorphism rs2285514 - GAPT Q8N292 VAR_033673 p.Ala83Thr Polymorphism rs35260984 - GAREM Q9H706 VAR_030580 p.Thr243Asn Polymorphism rs671138 - GAREM Q9H706 VAR_030581 p.Lys291Arg Polymorphism rs3744921 - GAREM Q9H706 VAR_030582 p.Ala490Val Polymorphism rs16962974 - GAREM Q9H706 VAR_030583 p.Val580Ile Polymorphism rs3891458 - GAREM Q9H706 VAR_030584 p.Thr720Met Polymorphism rs2276374 - GARNL3 Q5VVW2 VAR_037456 p.His108Arg Polymorphism rs11550746 - GARNL3 Q5VVW2 VAR_037457 p.Ala752Ser Polymorphism rs34608132 - GARS P41250 VAR_018718 p.Glu125Gly Disease rs28936972 Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472] GARS P41250 VAR_018719 p.Leu183Pro Disease - Distal hereditary motor neuronopathy type 5A (HMN5A) [MIM:600794] GARS P41250 VAR_018720 p.Gly294Arg Disease - Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472] GARS P41250 VAR_018721 p.Gly580Arg Disease rs28937323 Distal hereditary motor neuronopathy type 5A (HMN5A) [MIM:600794] GARS P41250 VAR_054865 p.Pro42Ala Polymorphism rs1049402 - GARS P41250 VAR_054866 p.Thr268Ile Polymorphism rs2230310 - GARS P41250 VAR_054867 p.Arg388Gln Polymorphism rs17159287 - GART P22102 VAR_011817 p.Leu21Phe Polymorphism rs1804387 - GART P22102 VAR_011818 p.Val421Ile Polymorphism rs8788 - GART P22102 VAR_011819 p.Asp752Gly Polymorphism rs8971 - GART P22102 VAR_051882 p.Asp510Gly Polymorphism rs35927582 - GART P22102 VAR_051883 p.Pro641Ala Polymorphism rs34588874 - GAS2L1 Q99501 VAR_059974 p.Ser490Gly Polymorphism rs34124440 - GAS2L2 Q8NHY3 VAR_053100 p.Ala540Thr Polymorphism rs12602590 - GAS2L2 Q8NHY3 VAR_053101 p.Ala654Val Polymorphism rs3744374 - GAS2L2 Q8NHY3 VAR_059975 p.Ala164Val Polymorphism rs11654604 - GAS2L2 Q8NHY3 VAR_062004 p.Arg829Trp Polymorphism rs56386706 - GAS2L3 Q86XJ1 VAR_033944 p.Leu461Ser Polymorphism rs11834625 - GAS2L3 Q86XJ1 VAR_033945 p.Pro500Thr Polymorphism rs17030365 - GAS6 Q14393 VAR_038823 p.Phe41Leu Polymorphism - - GAS6 Q14393 VAR_038824 p.Ser231Tyr Polymorphism - - GAS6 Q14393 VAR_038825 p.Val390Met Polymorphism - - GAS6 Q14393 VAR_038826 p.Gly543Arg Polymorphism - - GAS6 Q14393 VAR_038827 p.Ser623Leu Polymorphism - - GAS6 Q14393 VAR_038828 p.Glu655Lys Polymorphism - - GAS6 Q14393 VAR_038829 p.Arg659Gln Polymorphism - - GAS8 O95995 VAR_016006 p.Glu199Lys Polymorphism rs868044 - GAS8 O95995 VAR_049230 p.Arg259Gln Polymorphism rs17178299 - GAST P01350 VAR_049127 p.Arg3Pro Polymorphism rs34309618 - GATA1 P15976 VAR_010115 p.Val205Met Disease - X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] GATA1 P15976 VAR_012706 p.Gly208Ser Disease - X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] GATA1 P15976 VAR_012707 p.Asp218Gly Disease - X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] GATA1 P15976 VAR_033114 p.Arg216Gln Disease - X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050] GATA1 P15976 VAR_033115 p.Asp218Tyr Disease - X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] GATA2 P23769 VAR_055004 p.Ala164Thr Polymorphism rs2335052 - GATA2 P23769 VAR_055005 p.Thr235Asn Polymorphism rs35079193 - GATA3 P23771 VAR_017818 p.Trp274Arg Disease - Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255] GATA3 P23771 VAR_019202 p.Gly242Ser Polymorphism rs11567901 - GATA3 P23771 VAR_033025 p.Arg366Leu Unclassified - A breast cancer sample GATA4 P43694 VAR_016204 p.Gly296Ser Disease - Atrial septal defect type 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_038195 p.Ser52Phe Disease - Atrial septal defect type 2 (ASD2) [MIM:607941] GATA4 P43694 VAR_038196 p.Ser377Gly Polymorphism rs3729856 - GATAD1 Q8WUU5 VAR_032533 p.Gly54Ser Polymorphism rs10281879 - GATAD2A Q86YP4 VAR_059308 p.Arg17Gln Polymorphism rs10426883 - GATAD2A Q86YP4 VAR_059309 p.Asn296Ser Polymorphism rs2288851 - GATC O43716 VAR_049129 p.Ser3Leu Polymorphism rs17431446 - GATM P50440 VAR_020305 p.Gln110His Polymorphism rs1288775 - GBA3 Q9H227 VAR_023587 p.Asp106Asn Polymorphism - - GBA3 Q9H227 VAR_023588 p.Arg213Pro Polymorphism rs17612341 - GBA3 Q9H227 VAR_023589 p.Cys354Arg Polymorphism rs16873108 - GBA3 Q9H227 VAR_049298 p.Met172Ile Polymorphism rs36090352 - GBA P04062 VAR_003255 p.Val54Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003256 p.Phe76Val Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003257 p.Thr82Ile Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003258 p.Gly85Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003259 p.Arg87Trp Disease rs1141814 Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003260 p.Lys118Asn Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003261 p.Gly152Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003262 p.Ile158Thr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003263 p.Arg159Gln Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003264 p.Arg159Trp Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003265 p.Pro161Ser Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003266 p.Thr173Pro Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003267 p.Asp179His Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003268 p.Lys196Gln Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003269 p.Arg209Pro Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003270 p.Ala215Asp Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003271 p.Pro217Ser Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003272 p.Pro221Thr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003273 p.Trp223Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003274 p.Asn227Ser Disease rs364897 Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003275 p.Asn227Lys Disease rs381418 Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003276 p.Val230Gly Disease rs381427 Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_003277 p.Gly234Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003278 p.Ser235Pro Disease rs1064644 Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003279 p.Gly241Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003280 p.Tyr251His Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003281 p.Phe252Ile Disease rs381737 Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003282 p.Phe255Tyr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003283 p.Ser276Pro Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003284 p.Arg296Gln Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003285 p.Pro305Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003286 p.Arg324Cys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003287 p.Pro328Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003288 p.Lys342Ile Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003289 p.Ala348Val Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003290 p.Trp351Cys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003291 p.Tyr352His Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003292 p.Asp354His Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003293 p.Ala357Asp Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003294 p.Thr362Ile Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003295 p.Leu363Pro Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003296 p.Gly364Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003297 p.Glu365Lys Disease rs2230288 Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003298 p.Cys381Gly Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003299 p.Arg398Gln Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003300 p.Ser403Thr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003301 p.Thr408Met Disease rs2230289 Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003302 p.Asn409Ser Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_003303 p.Gly416Ser Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003304 p.Trp417Gly Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003305 p.Asp419Ala Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003306 p.Asp419Asn Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003307 p.Gly428Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003308 p.Pro430Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003309 p.Asn431Ile Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003310 p.Val433Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003311 p.Asn435Thr Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_003312 p.Asp438Asn Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003313 p.Asp448His Disease rs1064651 Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003314 p.Asp448Val Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003315 p.Tyr451His Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003316 p.Pro454Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003317 p.Phe456Val Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003318 p.Tyr457Cys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003319 p.Lys464Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003320 p.Leu483Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003321 p.Leu483Pro Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_003321 p.Leu483Pro Disease - Gaucher disease type 2 (GD2) [MIM:230900] GBA P04062 VAR_003322 p.Ala485Pro Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003323 p.Ala495Pro Disease rs368060 Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003324 p.Arg502Cys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003325 p.Leu509Pro Polymorphism - - GBA P04062 VAR_003326 p.Gly517Ser Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003327 p.Arg535Cys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_003328 p.Arg535His Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009033 p.Glu80Lys Disease rs1141808 Gaucher disease type 2 (GD2) [MIM:230900] GBA P04062 VAR_009034 p.Ser146Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009035 p.Arg170Cys Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_009035 p.Arg170Cys Disease - Gaucher disease type 2 (GD2) [MIM:230900] GBA P04062 VAR_009036 p.Arg170Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009037 p.Pro198Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009038 p.Ala229Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009039 p.Gly234Trp Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009040 p.His294Gln Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_009041 p.Phe298Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009042 p.Arg324His Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009043 p.Tyr343Cys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009044 p.His350Arg Unclassified - - GBA P04062 VAR_009045 p.Ala380Thr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009046 p.Ser405Asn Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009047 p.Trp432Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009048 p.Val437Phe Unclassified - - GBA P04062 VAR_009049 p.Asn501Lys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_009050 p.Asp513Tyr Disease - Gaucher disease type 2 (GD2) [MIM:230900] GBA P04062 VAR_010059 p.Ile200Ser Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010060 p.Gly228Val Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010061 p.Gly241Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010062 p.Tyr244Cys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010063 p.Gly304Asp Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010064 p.Ser310Asn Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010065 p.Val391Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010066 p.Arg392Gly Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010067 p.Ser405Gly Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010068 p.Val414Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010069 p.Pro426Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010070 p.Val437Leu Disease - Gaucher disease type 3 (GD3) [MIM:231000] GBA P04062 VAR_010071 p.Pro440Leu Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_010072 p.Ile441Thr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010073 p.Phe450Ile Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010074 p.Lys452Gln Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_010075 p.Thr530Ile Disease - Gaucher disease type 3 (GD3) [MIM:231000] GBA P04062 VAR_032197 p.Arg87Gln Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032198 p.Pro161Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032199 p.Met162Val Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032200 p.Asp166Val Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032201 p.Ile200Asn Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032202 p.Leu213Phe Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032203 p.Leu224Phe Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032204 p.Gly232Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032205 p.Lys237Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032206 p.Leu303Ile Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032207 p.Glu388Lys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032208 p.Arg392Trp Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032209 p.Tyr402Cys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032210 p.Leu410Val Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032211 p.Asp419His Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032212 p.Asn421Lys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032213 p.Gly429Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032214 p.Phe436Ser Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032215 p.Met455Val Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032216 p.Leu500Pro Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032217 p.Arg502Pro Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032394 p.Cys55Ser Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032395 p.Asp63Asn Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_032396 p.Met92Thr Polymorphism rs3205619 - GBA P04062 VAR_032397 p.Ala129Thr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032398 p.Asn156Asp Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032399 p.Ile158Ser Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_032400 p.Thr173Ile Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032401 p.Ala175Glu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032402 p.Pro198Thr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032403 p.His201Pro Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032404 p.Arg209Cys Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032405 p.Pro221Leu Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_032406 p.Ala229Thr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032407 p.Val230Glu Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_032408 p.Thr270Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032409 p.Phe290Leu Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032410 p.Ser310Gly Polymorphism rs1057942 - GBA P04062 VAR_032411 p.Arg368His Polymorphism rs1064648 - GBA P04062 VAR_032412 p.Met400Ile Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032413 p.Asp438Tyr Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032414 p.Ile441Phe Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_032415 p.Gly460Asp Disease - Gaucher disease type 1 (GD1) [MIM:230800] GBA P04062 VAR_032416 p.His490Arg Disease - Gaucher disease (GD) [MIM:230800] GBA P04062 VAR_063066 p.Lys46Glu Unclassified - - GBA P04062 VAR_063067 p.Asp482Asn Unclassified - - GBA P04062 VAR_063068 p.Val497Leu Polymorphism - - GBE1 Q04446 VAR_022109 p.Arg190Gly Polymorphism rs2229519 - GBE1 Q04446 VAR_022429 p.Leu224Pro Disease - Glycogen storage disease type 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022430 p.Phe257Leu Disease - Glycogen storage disease type 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022431 p.Tyr329Ser Disease - Glycogen storage disease type 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022432 p.Arg515Cys Disease - Glycogen storage disease type 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022433 p.Arg515His Disease - Adult polyglucosan body disease (APBD) [MIM:263570] GBE1 Q04446 VAR_022434 p.Arg524Gln Disease - Adult polyglucosan body disease (APBD) [MIM:263570] GBE1 Q04446 VAR_022434 p.Arg524Gln Disease - Glycogen storage disease type 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022435 p.His545Arg Disease - Glycogen storage disease type 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_022436 p.His628Arg Disease - Glycogen storage disease type 4 (GSD4) [MIM:232500] GBE1 Q04446 VAR_034747 p.Thr265Ser Polymorphism rs17856389 - GBE1 Q04446 VAR_034748 p.Ile334Val Polymorphism rs2172397 - GBE1 Q04446 VAR_034749 p.Thr507Ala Polymorphism rs2228389 - GBF1 Q92538 VAR_051926 p.Gly1693Ser Polymorphism rs11191274 - GBGT1 Q8N5D6 VAR_022452 p.Leu20Phe Polymorphism rs2073924 - GBGT1 Q8N5D6 VAR_025068 p.Ser21Gly Polymorphism rs35578482 - GBGT1 Q8N5D6 VAR_025069 p.Leu79Pro Polymorphism rs12350913 - GBGT1 Q8N5D6 VAR_025070 p.Arg163Trp Polymorphism rs34260370 - GBGT1 Q8N5D6 VAR_025071 p.Asp200Asn Polymorphism rs34903033 - GBGT1 Q8N5D6 VAR_025072 p.Gln238Pro Polymorphism rs35366884 - GBGT1 Q8N5D6 VAR_025073 p.Thr248Ile Polymorphism rs35184631 - GBGT1 Q8N5D6 VAR_025074 p.Ile291Phe Polymorphism rs35403335 - GBP1 P32455 VAR_014849 p.Thr349Ser Polymorphism rs1048425 - GBP1 P32455 VAR_033950 p.Ile78Val Polymorphism rs1048401 - GBP1 P32455 VAR_033951 p.Glu166Asp Polymorphism rs17130717 - GBP1 P32455 VAR_046550 p.Ala409Gly Polymorphism rs1048443 - GBP2 P32456 VAR_054815 p.Ser281Pro Polymorphism rs2230336 - GBP2 P32456 VAR_054816 p.Pro285Ala Polymorphism rs1803632 - GBP2 P32456 VAR_054817 p.Ser303Gly Polymorphism rs2230338 - GBP3 Q9H0R5 VAR_029082 p.Val469Met Polymorphism rs10493821 - GBP3 Q9H0R5 VAR_029083 p.Cys491Arg Polymorphism rs17433780 - GBP3 Q9H0R5 VAR_029084 p.Val558Ala Polymorphism rs11808228 - GBP3 Q9H0R5 VAR_054136 p.Arg221Gln Polymorphism rs4656078 - GBP3 Q9H0R5 VAR_054137 p.Arg225Trp Polymorphism rs4656077 - GBP3 Q9H0R5 VAR_054138 p.Thr347Ser Polymorphism rs3188433 - GBP4 Q96PP9 VAR_028283 p.Lys125Glu Polymorphism rs17130745 - GBP4 Q96PP9 VAR_028284 p.Ile379Val Polymorphism rs1831240 - GBP4 Q96PP9 VAR_028285 p.Tyr541Asn Polymorphism rs655260 - GBP4 Q96PP9 VAR_028286 p.Leu549Met Polymorphism rs608339 - GBP4 Q96PP9 VAR_028287 p.Glu551Lys Polymorphism rs561037 - GBP4 Q96PP9 VAR_028288 p.Glu551Gly Polymorphism rs561042 - GBP4 Q96PP9 VAR_033952 p.Met542Ile Polymorphism rs1142886 - GBP4 Q96PP9 VAR_033953 p.Met545Ile Polymorphism rs1142889 - GBP4 Q96PP9 VAR_033954 p.Met545Leu Polymorphism rs1142888 - GBP4 Q96PP9 VAR_033955 p.Glu546Lys Polymorphism rs1142890 - GBP5 Q96PP8 VAR_033956 p.Thr35Met Polymorphism rs3806339 - GBP5 Q96PP8 VAR_053104 p.Glu4Gln Polymorphism rs17130763 - GBP6 Q6ZN66 VAR_037750 p.Thr278Ile Polymorphism rs4582772 - GBP6 Q6ZN66 VAR_037751 p.Ala331Ser Polymorphism rs4658359 - GBP6 Q6ZN66 VAR_037752 p.Leu344Phe Polymorphism rs4658360 - GBP6 Q6ZN66 VAR_037753 p.Met355Val Polymorphism rs4658146 - GBP6 Q6ZN66 VAR_037754 p.Asp520Val Polymorphism rs959460 - GBP7 Q8N8V2 VAR_037687 p.Thr14Ile Polymorphism rs676913 - GBP7 Q8N8V2 VAR_037688 p.Gly618Arg Polymorphism rs1886297 - GBX1 Q14549 VAR_049579 p.Ala194Thr Polymorphism rs11975799 - GCA P28676 VAR_048657 p.Ser80Ala Polymorphism rs17783344 - GCAT O75600 VAR_015094 p.Arg39Cys Polymorphism rs710187 - GCAT O75600 VAR_048229 p.Ser100Asn Polymorphism rs34468367 - GCC1 Q96CN9 VAR_020157 p.Cys87Trp Polymorphism rs2285348 - GCC1 Q96CN9 VAR_021902 p.Arg86Trp Polymorphism rs17151044 - GCC1 Q96CN9 VAR_049259 p.Ala122Val Polymorphism rs35322201 - GCC1 Q96CN9 VAR_049260 p.Gln262Arg Polymorphism rs35390108 - GCC1 Q96CN9 VAR_049261 p.Ala274Thr Polymorphism rs34887879 - GCC1 Q96CN9 VAR_049262 p.Arg618Cys Polymorphism rs34883586 - GCC2 Q8IWJ2 VAR_016101 p.Arg1298Gly Polymorphism rs1061202 - GCC2 Q8IWJ2 VAR_046635 p.Gln1134Glu Polymorphism rs2718698 - GCDH Q92947 VAR_000366 p.Arg88Cys Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000367 p.Arg94Leu Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000368 p.Gly101Arg Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000369 p.Cys115Tyr Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000370 p.Ala122Val Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000371 p.Arg128Gly Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000372 p.Arg138Gly Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000373 p.Ser139Leu Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000374 p.Val148Ile Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000375 p.Arg161Gln Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000376 p.Gly178Arg Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000377 p.Leu179Arg Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000378 p.Met191Thr Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000379 p.Ala195Thr Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000380 p.Arg227Pro Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000381 p.Phe236Leu Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000382 p.Arg257Gln Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000383 p.Arg257Trp Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000384 p.Met266Val Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000385 p.Pro278Ser Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000386 p.Leu283Pro Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000387 p.Ala293Thr Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000388 p.Arg294Trp Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000389 p.Tyr295His Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000390 p.Ala298Thr Polymorphism - - GCDH Q92947 VAR_000391 p.Ala298Val Polymorphism - - GCDH Q92947 VAR_000392 p.Ser305Leu Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000393 p.Cys308Ser Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000394 p.Leu309Trp Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000395 p.Arg313Trp Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000396 p.Gln333Glu Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000397 p.Ala349Thr Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000398 p.Gly354Arg Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000399 p.Gly354Ser Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000400 p.Arg355Cys Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000401 p.Arg355His Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000402 p.Glu365Lys Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000403 p.Cys375Arg Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000404 p.Ala382Thr Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000405 p.Arg383Cys Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000406 p.Arg383His Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000407 p.Arg386Gln Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000408 p.Gly390Arg Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000409 p.Gly390Ala Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000410 p.Asn392Asp Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000411 p.Val400Met Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000412 p.Arg402Trp Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000413 p.Arg402Gln Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000414 p.His403Arg Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000415 p.Asn406Lys Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000416 p.Leu407Pro Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000417 p.Glu414Lys Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000418 p.Thr416Ile Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000419 p.Ala421Thr Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000420 p.Ala421Val Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000421 p.Thr429Met Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_000422 p.Ala433Glu Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCDH Q92947 VAR_060588 p.Met263Val Disease - Glutaric aciduria type 1 (GA1) [MIM:231670] GCFC2 P16383 VAR_051005 p.Pro32Ala Polymorphism rs7559767 - GCFC2 P16383 VAR_051006 p.Asn249Ser Polymorphism rs7560262 - GCFC2 P16383 VAR_051007 p.Gln316Glu Polymorphism rs6742946 - GCFC2 P16383 VAR_051008 p.Thr594Ala Polymorphism rs6722682 - GCFC2 P16383 VAR_051009 p.Glu724Asp Polymorphism rs17690300 - GCG P01275 VAR_014596 p.Ala115Val Polymorphism rs5650 - GCGR P47871 VAR_003581 p.Gly40Ser Polymorphism rs1801483 - GCGR P47871 VAR_014837 p.Pro114Ala Polymorphism rs5385 - GCGR P47871 VAR_033966 p.Phe303Cys Polymorphism rs5387 - GCH1 P30793 VAR_002632 p.Gly15Asp Unclassified - - GCH1 P30793 VAR_002633 p.Pro23Leu Disease rs41298432 Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002634 p.Leu79Pro Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002635 p.Arg88Pro Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002636 p.Arg88Trp Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002637 p.Met102Lys Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002638 p.Asp134Val Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002639 p.Cys141Trp Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002640 p.His144Pro Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002641 p.His153Pro Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002642 p.Arg178Ser Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002643 p.Arg184His Disease - GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910] GCH1 P30793 VAR_002644 p.Thr186Lys Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002645 p.Gly201Glu Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002646 p.Gly203Arg Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002647 p.Met211Ile Disease - GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910] GCH1 P30793 VAR_002648 p.Lys224Arg Disease rs41298442 Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_002648 p.Lys224Arg Disease rs41298442 GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910] GCH1 P30793 VAR_002649 p.Phe234Ser Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016888 p.Leu71Gln Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016889 p.Ala74Val Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016890 p.Gly83Ala Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016892 p.Gly90Val Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016893 p.Met102Arg Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016894 p.Gly108Asp Disease - GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910] GCH1 P30793 VAR_016895 p.Asp115Asn Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016896 p.Ile135Lys Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016897 p.Cys141Arg Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016898 p.Leu163Arg Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016899 p.Ser176Thr Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016900 p.Gln180Arg Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016901 p.Val191Ile Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016902 p.Pro199Leu Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016903 p.Met211Val Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016904 p.Met213Val Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016905 p.Met221Thr Disease - GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910] GCH1 P30793 VAR_016906 p.Arg241Trp Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_016907 p.Arg249Ser Disease - Dystonia type 5 (DYT5) [MIM:128230] GCH1 P30793 VAR_054112 p.Thr106Ile Disease - Dystonia type 5 (DYT5) [MIM:128230] GCK P35557 VAR_003692 p.Asp4Asn Polymorphism - - GCK P35557 VAR_003693 p.Glu70Lys Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003694 p.Gly80Ala Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003695 p.Gly80Ser Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003696 p.Met107Thr Polymorphism - - GCK P35557 VAR_003697 p.Ser131Pro Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003698 p.Gly175Arg Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003699 p.Val182Met Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003700 p.Ala188Thr Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003701 p.Val203Ala Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003702 p.Glu221Lys Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003703 p.Val226Met Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003704 p.Gly227Cys Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003705 p.Thr228Met Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003706 p.Glu256Lys Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003707 p.Trp257Arg Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003708 p.Gly261Arg Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003709 p.Glu279Gln Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003710 p.Gly299Arg Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003711 p.Glu300Gln Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003712 p.Glu300Lys Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003713 p.Leu309Pro Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003714 p.Lys414Glu Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_003715 p.Val455Met Disease - Familial hyperinsulinemic hypoglycemia type 3 (HHF3) [MIM:602485] GCK P35557 VAR_010583 p.Ala11Thr Polymorphism - - GCK P35557 VAR_010584 p.Arg36Trp Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010585 p.Ala53Ser Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010586 p.Tyr108His Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010587 p.His137Arg Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010588 p.Phe150Ser Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010589 p.Thr168Pro Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010590 p.Thr209Met Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010591 p.Met210Thr Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010592 p.Cys213Arg Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010593 p.Ala259Thr Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010594 p.Gly261Glu Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010595 p.Ser336Leu Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010596 p.Val367Met Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010597 p.Cys382Tyr Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010598 p.Ala384Thr Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_010599 p.Arg392Cys Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_012350 p.Leu164Pro Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_012351 p.Met210Lys Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_012352 p.Ile110Thr Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_012353 p.Ala119Asp Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCK P35557 VAR_012354 p.Gly385Val Disease - Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] GCKR Q14397 VAR_008906 p.Pro446Leu Polymorphism rs1260326 - GCKR Q14397 VAR_018849 p.Glu77Gly Polymorphism rs8179206 - GCKR Q14397 VAR_018850 p.Gly256Ser Polymorphism rs8179212 - GCKR Q14397 VAR_018851 p.Arg540Gln Polymorphism rs8179249 - GCLC P48506 VAR_013514 p.His370Leu Disease - Hemolytic anemia (HAGGSD) [MIM:230450] GCLC P48506 VAR_014884 p.Leu55Ser Polymorphism rs2066512 - GCLC P48506 VAR_015403 p.Pro158Leu Disease - Hemolytic anemia (HAGGSD) [MIM:230450] GCLC P48506 VAR_021100 p.Pro462Ser Polymorphism rs17883718 - GCLC P48506 VAR_021110 p.Arg127Cys Disease - Hemolytic anemia (HAGGSD) [MIM:230450] GCLM P48507 VAR_021063 p.Ile209Met Polymorphism rs17880087 - GCM2 O75603 VAR_049130 p.Asp53Asn Polymorphism rs11963186 - GCM2 O75603 VAR_049131 p.Ala117Val Polymorphism rs35786951 - GCM2 O75603 VAR_049132 p.Gly203Ser Polymorphism rs7744163 - GCM2 O75603 VAR_049133 p.Ile227Val Polymorphism rs35395043 - GCM2 O75603 VAR_058044 p.Arg47Leu Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] GCM2 O75603 VAR_058045 p.Gly63Ser Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] GCM2 O75603 VAR_065495 p.Arg110Trp Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] GCM2 O75603 VAR_065496 p.Tyr282Asp Polymorphism - - GCM2 O75603 VAR_065497 p.Val382Met Unclassified - - GCM2 O75603 VAR_065498 p.Asn502His Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] GCN1L1 Q92616 VAR_062228 p.Tyr2155Asp Polymorphism rs3864938 - GCNT1 Q02742 VAR_048000 p.Ile152Val Polymorphism rs2282683 - GCNT1 Q02742 VAR_048001 p.Ser158Cys Polymorphism rs11546569 - GCNT2 Q06430 VAR_049323 p.Pro85Arg Polymorphism rs17637756 - GCNT4 Q9P109 VAR_032444 p.Val321Ile Polymorphism rs4704166 - GCNT4 Q9P109 VAR_032445 p.Pro439Ser Polymorphism rs3811987 - GCNT4 Q9P109 VAR_061210 p.Val321Leu Polymorphism rs4704166 - GCNT6 Q5T4J0 VAR_034781 p.Pro316Leu Polymorphism rs9885719 - GCNT7 Q6ZNI0 VAR_059315 p.Asn425His Polymorphism rs3746627 - GCNT7 Q6ZNI0 VAR_061211 p.Asp352Glu Polymorphism rs34552628 - GCOM2 Q9BZD3 VAR_054145 p.Arg176His Unclassified - An acute myeloid leukemia sample GC P02774 VAR_000548 p.Asp432Glu Polymorphism rs7041 - GC P02774 VAR_000549 p.Lys436Thr Polymorphism rs4588 - GC P02774 VAR_014120 p.Arg445Cys Polymorphism - - GC P02774 VAR_014121 p.Arg445His Polymorphism rs9016 - GCSH P23434 VAR_018846 p.Ser21Leu Polymorphism rs8052579 - GCSH P23434 VAR_018847 p.Asn73Ser Polymorphism rs8177877 - GDAP1L1 Q96MZ0 VAR_036556 p.Arg141Trp Unclassified - A colorectal cancer sample GDAP1 Q8TB36 VAR_017184 p.Arg120Gln Disease - Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400] GDAP1 Q8TB36 VAR_017185 p.Arg161His Disease - Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400] GDAP1 Q8TB36 VAR_017186 p.Arg282Cys Disease rs28937906 Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400] GDAP1 Q8TB36 VAR_017187 p.Arg310Gln Disease - Charcot-Marie-Tooth disease axonal recessive with vocal cord paresis (CMT2RV) [MIM:607706] GDAP2 Q9NXN4 VAR_042843 p.Pro95Arg Polymorphism rs12752437 - GDAP2 Q9NXN4 VAR_042844 p.Gly106Ser Polymorphism rs12753610 - GDAP2 Q9NXN4 VAR_042845 p.Gln312Pro Polymorphism rs12145577 - GDAP2 Q9NXN4 VAR_042846 p.Thr489Ala Polymorphism rs34924570 - GDE1 Q9NZC3 VAR_044018 p.Arg218Gln Polymorphism rs2072086 - GDE1 Q9NZC3 VAR_044019 p.Glu328Lys Polymorphism rs34137361 - GDF15 Q99988 VAR_010386 p.Ser48Thr Polymorphism rs1059369 - GDF15 Q99988 VAR_047646 p.Val9Leu Polymorphism rs1059519 - GDF15 Q99988 VAR_047647 p.His202Asp Polymorphism rs1058587 - GDF1 P27539 VAR_028274 p.Ala118Val Polymorphism rs4808863 - GDF1 P27539 VAR_065332 p.Arg68His Unclassified - - GDF1 P27539 VAR_065333 p.Gly162Asp Disease - Tetralogy of Fallot (TOF) [MIM:187500] GDF1 P27539 VAR_065334 p.Gly262Ser Unclassified - - GDF1 P27539 VAR_065335 p.Cys267Tyr Disease - Conotruncal heart malformations (CTHM) [MIM:217095] GDF1 P27539 VAR_065336 p.Ser309Pro Disease - Tetralogy of Fallot (TOF) [MIM:187500] GDF1 P27539 VAR_065337 p.Pro312Thr Disease - Tetralogy of Fallot (TOF) [MIM:187500] GDF1 P27539 VAR_065338 p.Ala318Thr Disease - Transposition of the great arteries dextro-looped type 3 (DTGA3) [MIM:613854] GDF3 Q9NR23 VAR_020064 p.Val328Leu Polymorphism rs2302516 - GDF3 Q9NR23 VAR_052574 p.Gly213Arg Polymorphism rs12819884 - GDF3 Q9NR23 VAR_065147 p.Arg195Gln Disease - Microphthalmia isolated type 7 (MCOP7) [MIM:613704] GDF3 Q9NR23 VAR_065148 p.Arg266Cys Disease - Klippel-Feil syndrome type 3 (KFS3) [MIM:613702] GDF3 Q9NR23 VAR_065148 p.Arg266Cys Disease - Microphthalmia isolated with coloboma type 6 (MCOPCB6) [MIM:613703] GDF3 Q9NR23 VAR_065149 p.Arg274Trp Disease - Microphthalmia isolated with coloboma type 6 (MCOPCB6) [MIM:613703] GDF3 Q9NR23 VAR_065150 p.Leu305Pro Disease - Microphthalmia isolated type 7 (MCOP7) [MIM:613704] GDF5 P43026 VAR_017407 p.Cys400Tyr Disease - Acromesomelic chondrodysplasia Grebe type (AMDG) [MIM:200700] GDF5 P43026 VAR_017408 p.Leu441Pro Disease rs28936683 Brachydactyly type A2 (BDA2) [MIM:112600] GDF5 P43026 VAR_017408 p.Leu441Pro Disease rs28936683 Du Pan syndrome (DPS) [MIM:228900] GDF5 P43026 VAR_026120 p.Ser276Ala Polymorphism rs224331 - GDF5 P43026 VAR_026545 p.Arg438Leu Disease - Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017] GDF5 P43026 VAR_026545 p.Arg438Leu Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] GDF5 P43026 VAR_037977 p.Arg163Gly Polymorphism rs34534075 - GDF5 P43026 VAR_037978 p.Met173Val Disease rs28936397 Brachydactyly type C (BDC) [MIM:113100] GDF5 P43026 VAR_037980 p.Ser439Thr Disease - Du Pan syndrome (DPS) [MIM:228900] GDF5 P43026 VAR_037981 p.His440Leu Disease - Du Pan syndrome (DPS) [MIM:228900] GDF5 P43026 VAR_037982 p.Ser475Asn Disease - Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017] GDF5 P43026 VAR_037983 p.Glu491Lys Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] GDF5 P43026 VAR_046743 p.Arg380Gln Disease - Brachydactyly type A2 (BDA2) [MIM:112600] GDF5 P43026 VAR_054909 p.Leu373Arg Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] GDF5 P43026 VAR_054910 p.Arg378Gln Disease - Du Pan syndrome (DPS) [MIM:228900] GDF5 P43026 VAR_054911 p.Pro436Thr Disease - Du Pan syndrome (DPS) [MIM:228900] GDF5 P43026 VAR_064416 p.Arg399Cys Disease - Brachydactyly type A1 (BDA1) [MIM:112500] GDF6 Q6KF10 VAR_023599 p.Lys110Glu Polymorphism rs2245091 - GDF6 Q6KF10 VAR_046903 p.Ala249Glu Disease - Klippel-Feil syndrome type 1 (KFS1) [MIM:118100] GDF6 Q6KF10 VAR_046903 p.Ala249Glu Disease - Microphthalmia isolated type 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_046904 p.Leu289Pro Disease - Klippel-Feil syndrome type 1 (KFS1) [MIM:118100] GDF6 Q6KF10 VAR_063024 p.Gly42Val Disease - Klippel-Feil syndrome type 1 (KFS1) [MIM:118100] GDF6 Q6KF10 VAR_063025 p.Gln119Arg Disease - Microphthalmia isolated type 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_063026 p.Asp216Gly Disease - Microphthalmia isolated type 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_063027 p.Gln253Leu Disease - Microphthalmia isolated type 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_063028 p.Pro327His Disease - Microphthalmia isolated type 4 (MCOP4) [MIM:613094] GDF6 Q6KF10 VAR_063029 p.Lys424Arg Disease - Klippel-Feil syndrome type 1 (KFS1) [MIM:118100] GDF6 Q6KF10 VAR_065151 p.Ala199Thr Unclassified - - GDF9 O60383 VAR_058945 p.Lys67Glu Unclassified - - GDF9 O60383 VAR_058946 p.Ser186Tyr Unclassified - - GDF9 O60383 VAR_058947 p.Val216Met Unclassified - - GDI1 P31150 VAR_008130 p.Leu92Pro Disease - Mental retardation X-linked type 41 (MRX41) [MIM:300849] GDI1 P31150 VAR_008131 p.Arg423Pro Disease - Mental retardation X-linked type 41 (MRX41) [MIM:300849] GDNF P39905 VAR_009494 p.Pro21Ser Unclassified - - GDNF P39905 VAR_009495 p.Arg93Trp Unclassified rs36119840 - GDNF P39905 VAR_009496 p.Asp150Asn Unclassified - - GDNF P39905 VAR_009497 p.Thr154Ser Disease - Hirschsprung disease type 3 (HSCR3) [MIM:613711] GDNF P39905 VAR_018152 p.Ile211Met Disease - Hirschsprung disease type 3 (HSCR3) [MIM:613711] GDPD4 Q6W3E5 VAR_055872 p.Lys220Arg Polymorphism rs2729772 - GDPD4 Q6W3E5 VAR_055873 p.His383Tyr Polymorphism rs11237146 - GDPD4 Q6W3E5 VAR_055874 p.Ile390Val Polymorphism rs11237145 - GDPD4 Q6W3E5 VAR_064764 p.Asn396Lys Polymorphism - - GDPD5 Q8WTR4 VAR_027733 p.Ala480Thr Polymorphism rs571353 - GDPGP1 Q6ZNW5 VAR_043555 p.Met37Thr Polymorphism rs7171194 - GDPGP1 Q6ZNW5 VAR_043556 p.Pro264Thr Polymorphism rs10152994 - GDPGP1 Q6ZNW5 VAR_043557 p.Thr307Ile Polymorphism rs10153004 - GEMIN4 P57678 VAR_020390 p.Arg1033Cys Polymorphism rs7813 - GEMIN4 P57678 VAR_021971 p.Arg684Gln Polymorphism rs3744741 - GEMIN4 P57678 VAR_024317 p.Ala579Gly Polymorphism rs910925 - GEMIN4 P57678 VAR_056891 p.Phe182Leu Polymorphism rs34604548 - GEMIN4 P57678 VAR_056892 p.Ile502Val Polymorphism rs34616851 - GEMIN4 P57678 VAR_056893 p.Ile739Thr Polymorphism rs1062923 - GEMIN4 P57678 VAR_056894 p.Pro749Leu Polymorphism rs8078660 - GEMIN4 P57678 VAR_056895 p.Phe782Leu Polymorphism rs34452716 - GEMIN4 P57678 VAR_056896 p.Val824Phe Polymorphism rs34936176 - GEMIN4 P57678 VAR_056897 p.Val913Ile Polymorphism rs34610323 - GEMIN5 Q8TEQ6 VAR_033807 p.Arg682Gln Polymorphism rs1974777 - GEMIN5 Q8TEQ6 VAR_057604 p.Pro1155Ser Polymorphism rs6865950 - GEMIN6 Q8WXD5 VAR_020391 p.Gly140Asp Polymorphism rs1056104 - GEMIN8 Q9NWZ8 VAR_051011 p.Glu195Val Polymorphism rs3747421 - GEM P55040 VAR_020097 p.Arg43Gly Polymorphism rs2170363 - GEN1 Q17RS7 VAR_037844 p.Ser92Thr Polymorphism rs1812152 - GEN1 Q17RS7 VAR_037845 p.Asn143Ser Polymorphism rs16981869 - GEN1 Q17RS7 VAR_037846 p.Ile203Val Polymorphism rs10177628 - GEN1 Q17RS7 VAR_037847 p.Arg275Leu Unclassified - A breast cancer sample GEN1 Q17RS7 VAR_037848 p.Ser310Asn Polymorphism rs300175 - GEN1 Q17RS7 VAR_037849 p.Thr680Ile Polymorphism rs300169 - GEN1 Q17RS7 VAR_037850 p.Arg898Cys Polymorphism rs17315702 - GEN1 Q17RS7 VAR_064715 p.Cys766Arg Unclassified - - GFAP P14136 VAR_017464 p.Pro47Leu Unclassified rs57474185 - GFAP P14136 VAR_017465 p.Leu76Phe Disease rs57120761 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017466 p.Asn77Tyr Disease rs58732244 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017467 p.Arg79Cys Disease rs59793293 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017468 p.Arg79His Disease rs59285727 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017469 p.Arg88Cys Disease rs61622935 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017470 p.Arg88Ser Disease - Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017471 p.Arg239Cys Disease rs58064122 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017472 p.Arg239His Disease rs59565950 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017473 p.Ala244Val Disease rs61497286 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017474 p.Arg258Pro Disease rs61726468 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017475 p.Glu362Asp Disease rs28932768 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017476 p.Arg416Trp Disease - Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017477 p.Asp78Glu Disease - Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017478 p.Glu223Gln Disease rs56679084 Alexander disease (ALEXD) [MIM:203450] GFAP P14136 VAR_017479 p.Asp295Asn Polymorphism rs1126642 - GFER P55789 VAR_061994 p.Phe166Leu Polymorphism rs36041021 - GFER P55789 VAR_063435 p.Arg194His Disease rs121908192 Mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076] GFI1B Q5VTD9 VAR_035556 p.Arg231His Unclassified - A colorectal cancer sample GFI1 Q99684 VAR_016212 p.Asn382Ser Disease rs28936381 Neutropenia severe congenital autosomal dominant type 2 (SCN2) [MIM:613107] GFI1 Q99684 VAR_016213 p.Lys403Arg Disease rs28936382 Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847] GFI1 Q99684 VAR_052722 p.Ser36Asn Polymorphism rs34631763 - GFM1 Q96RP9 VAR_021512 p.Asn174Ser Disease rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060] GFM1 Q96RP9 VAR_028303 p.Val215Ile Polymorphism rs2303909 - GFM1 Q96RP9 VAR_031901 p.Met496Arg Disease - Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060] GFM2 Q969S9 VAR_053983 p.Asn64Ser Polymorphism rs957680 - GFM2 Q969S9 VAR_053984 p.Ser300Cys Polymorphism rs16872235 - GFM2 Q969S9 VAR_053985 p.Arg774Gln Polymorphism rs1048167 - GFM2 Q969S9 VAR_060200 p.Pro425His Polymorphism rs17852780 - GFM2 Q969S9 VAR_060201 p.Glu594Gly Polymorphism rs17856872 - GFM2 Q969S9 VAR_060202 p.Glu735Gly Polymorphism rs17856871 - GFOD2 Q3B7J2 VAR_054433 p.Gly231Val Polymorphism rs11539687 - GFPT1 Q06210 VAR_065339 p.Thr15Ala Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065340 p.Thr15Met Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065341 p.Asp43Val Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065342 p.Arg111Cys Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065343 p.Ile121Thr Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065344 p.Val199Phe Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065345 p.Asp366Tyr Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065346 p.Arg403His Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065347 p.Arg452His Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065348 p.Met509Thr Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065349 p.Met510Thr Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065350 p.Arg514Trp Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT1 Q06210 VAR_065351 p.Arg530Trp Disease - Myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:610542] GFPT2 O94808 VAR_013311 p.Ile471Val Polymorphism rs2303007 - GFRA1 P56159 VAR_012488 p.Tyr85Asn Polymorphism rs8192662 - GFRA1 P56159 VAR_012489 p.Thr366Ala Polymorphism rs2072276 - GFRA1 P56159 VAR_018261 p.Leu371Arg Unclassified - - GFRA2 O00451 VAR_059976 p.Leu462Gln Polymorphism rs1128397 - GFRAL Q6UXV0 VAR_036234 p.Asp195His Unclassified - A breast cancer sample GFRAL Q6UXV0 VAR_053105 p.Arg33Cys Polymorphism rs12199003 - GFRAL Q6UXV0 VAR_053106 p.Ser387Pro Polymorphism rs9370418 - GGA1 Q9UJY5 VAR_036522 p.Gly239Ser Unclassified - A breast cancer sample GGA1 Q9UJY5 VAR_036523 p.Pro484Ala Unclassified - A breast cancer sample GGA2 Q9UJY4 VAR_028275 p.Ala424Pro Polymorphism rs1135045 - GGA3 Q9NZ52 VAR_036524 p.Pro574Leu Unclassified - A breast cancer sample GGCX P38435 VAR_005780 p.Arg325Gln Polymorphism rs699664 - GGCX P38435 VAR_005781 p.Leu394Arg Disease - Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450] GGCX P38435 VAR_015218 p.Trp501Ser Disease rs28928872 Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450] GGCX P38435 VAR_021826 p.Arg485Pro Disease - Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450] GGCX P38435 VAR_032979 p.Phe299Ser Disease - Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGCX P38435 VAR_032980 p.Arg476Cys Disease - Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGCX P38435 VAR_032981 p.Arg476His Disease - Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGCX P38435 VAR_032982 p.Trp493Ser Disease - Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGCX P38435 VAR_032983 p.Gly558Arg Disease - Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] GGH Q92820 VAR_014697 p.Cys6Arg Polymorphism rs1800909 - GGH Q92820 VAR_029230 p.Ala31Thr Polymorphism rs11545077 - GGH Q92820 VAR_029231 p.Thr151Ile Polymorphism rs11545078 - GGT1 P19440 VAR_018372 p.Val272Ala Polymorphism rs4049829 - GGT1 P19440 VAR_018373 p.Lys52Glu Polymorphism rs2330838 - GGT1 P19440 VAR_018374 p.Ala177Val Polymorphism rs3895576 - GGT1 P19440 VAR_025545 p.Ser51Leu Polymorphism rs2330837 - GGT1 P19440 VAR_025546 p.Asn419Asp Polymorphism rs17004876 - GGT1 P19440 VAR_049181 p.Val435Ala Polymorphism rs16986465 - GGT5 P36269 VAR_024455 p.Ile475Val Polymorphism rs7288201 - GGT5 P36269 VAR_028006 p.Leu11Ile Polymorphism rs5760274 - GGT5 P36269 VAR_028007 p.Lys330Arg Polymorphism rs2275984 - GGT5 P36269 VAR_028008 p.Gln332His Polymorphism rs6004105 - GGT6 Q6P531 VAR_038138 p.Arg40Trp Polymorphism rs7216284 - GGT6 Q6P531 VAR_038139 p.Ala58Val Polymorphism rs11657054 - GGTLC2 Q14390 VAR_035113 p.Glu70Gly Polymorphism rs2904923 - GGTLC2 Q14390 VAR_055836 p.Asp75Asn Polymorphism rs2330126 - GH1 P01241 VAR_011917 p.Thr3Ala Disease rs2001345 Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_011918 p.Ser105Cys Polymorphism rs6174 - GH1 P01241 VAR_011919 p.Val136Ile Polymorphism rs5388 - GH1 P01241 VAR_015801 p.Leu16Pro Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015802 p.Asp37Asn Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015803 p.Arg42Cys Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015804 p.Thr53Ile Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015805 p.Lys67Arg Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015806 p.Asn73Asp Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015807 p.Ser97Phe Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015808 p.Glu100Lys Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015809 p.Arg103Cys Disease - Kowarski syndrome (KWKS) [MIM:262650] GH1 P01241 VAR_015810 p.Gln117Leu Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015811 p.Ser134Cys Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015812 p.Ser134Arg Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015813 p.Asp138Gly Disease - Kowarski syndrome (KWKS) [MIM:262650] GH1 P01241 VAR_015814 p.Thr201Ala Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GH1 P01241 VAR_015815 p.Arg209His Disease - Growth hormone deficiency isolated type 2 (IGHD2) [MIM:173100] GH1 P01241 VAR_032702 p.Cys79Ser Unclassified - - GH1 P01241 VAR_032703 p.Ile205Met Unclassified - - GH2 P01242 VAR_014591 p.Arg90Trp Polymorphism rs5389 - GHRH P01286 VAR_024328 p.Leu75Phe Polymorphism rs4988492 - GHRH P01286 VAR_049185 p.Tyr32Cys Polymorphism rs17787698 - GHRHR Q02643 VAR_015796 p.Leu144His Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GHRHR Q02643 VAR_015797 p.Ala176Val Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GHRHR Q02643 VAR_015798 p.Ala222Glu Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GHRHR Q02643 VAR_015799 p.Phe242Cys Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GHRHR Q02643 VAR_015800 p.Lys329Glu Disease - Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] GHRHR Q02643 VAR_033962 p.Ala57Thr Polymorphism rs4988496 - GHRHR Q02643 VAR_033963 p.Glu121Asp Polymorphism rs4988498 - GHRHR Q02643 VAR_033964 p.Val225Ile Polymorphism rs28371560 - GHRHR Q02643 VAR_033965 p.Met422Thr Polymorphism rs2228078 - GHRHR Q02643 VAR_036223 p.Ala45Thr Unclassified - A colorectal cancer sample GHRL Q9UBU3 VAR_029135 p.Gln90Leu Polymorphism rs4684677 - GHRL Q9UBU3 VAR_050095 p.Leu72Met Polymorphism rs696217 - GHR P10912 VAR_002708 p.Glu62Lys Disease - Idiopathic short stature autosomal (ISSA) [MIM:604271] GHR P10912 VAR_002709 p.Arg89Lys Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002710 p.Phe114Ser Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002711 p.Val143Ala Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002712 p.Val162Asp Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002713 p.Asp170His Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002714 p.Arg179Cys Disease - Idiopathic short stature autosomal (ISSA) [MIM:604271] GHR P10912 VAR_002714 p.Arg179Cys Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002715 p.Arg229Gly Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_002716 p.Glu242Asp Unclassified rs45588036 - GHR P10912 VAR_013937 p.Arg179His Polymorphism rs6181 - GHR P10912 VAR_013938 p.Arg229His Unclassified rs6177 - GHR P10912 VAR_013939 p.Cys440Phe Disease rs6182 Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_013940 p.Pro495Thr Polymorphism rs6183 - GHR P10912 VAR_013941 p.Ile544Leu Polymorphism rs6180 - GHR P10912 VAR_013942 p.Pro579Thr Polymorphism rs6184 - GHR P10912 VAR_018426 p.Cys56Ser Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018427 p.Ser58Leu Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018428 p.Trp68Arg Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018429 p.Pro149Gln Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018430 p.Val162Ile Unclassified - - GHR P10912 VAR_018431 p.Ile171Thr Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018432 p.Gln172Pro Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018433 p.Val173Gly Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018434 p.Tyr226Cys Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018435 p.Ser244Ile Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_018436 p.Asp262Asn Disease - Laron syndrome (LARS) [MIM:262500] GHR P10912 VAR_020002 p.Val162Phe Polymorphism rs6413484 - GHR P10912 VAR_032704 p.Glu465Lys Polymorphism rs34283856 - GHSR Q92847 VAR_032705 p.Ala204Glu Disease - Idiopathic short stature autosomal (ISSA) [MIM:604271] GHSR Q92847 VAR_049389 p.Thr5Ile Polymorphism rs2232165 - GIF P27352 VAR_022742 p.Gln23Arg Polymorphism rs35211634 - GIF P27352 VAR_022743 p.Ser46Leu Disease - Hereditary intrinsic factor deficiency (IFD) [MIM:261000] GIF P27352 VAR_022744 p.Asn255Ser Polymorphism rs35867471 - GIF P27352 VAR_048753 p.Gly65Arg Polymorphism rs11825834 - GIGYF2 Q6Y7W6 VAR_044439 p.Asn56Ser Unclassified - - GIGYF2 Q6Y7W6 VAR_044440 p.Thr112Ala Disease - Parkinson disease type 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_044441 p.Ile278Val Disease - Parkinson disease type 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_044442 p.Ser335Thr Disease - Parkinson disease type 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_044443 p.Asn457Thr Disease - Parkinson disease type 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_044444 p.Pro460Thr Polymorphism rs2289912 - GIGYF2 Q6Y7W6 VAR_044445 p.Asp606Glu Disease - Parkinson disease type 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_044446 p.His1171Arg Polymorphism - - GIGYF2 Q6Y7W6 VAR_044449 p.Val1242Ile Disease - Parkinson disease type 11 (PARK11) [MIM:607688] GIGYF2 Q6Y7W6 VAR_051268 p.Pro423Leu Polymorphism rs34845648 - GIMAP1 Q8WWP7 VAR_036301 p.Val166Glu Unclassified - A breast cancer sample GIMAP1 Q8WWP7 VAR_049530 p.Arg254Ser Polymorphism rs7811263 - GIMAP2 Q9UG22 VAR_017305 p.His161Arg Polymorphism rs2075078 - GIMAP2 Q9UG22 VAR_049531 p.Val74Phe Polymorphism rs11558054 - GIMAP2 Q9UG22 VAR_049532 p.Asn152Ser Polymorphism rs17173567 - GIMAP4 Q9NUV9 VAR_017306 p.Glu128Asp Polymorphism rs2293172 - GIMAP6 Q6P9H5 VAR_043037 p.Gly170Asp Polymorphism rs11974345 - GIMAP6 Q6P9H5 VAR_043038 p.Gly171Ser Polymorphism rs13234724 - GIMAP6 Q6P9H5 VAR_043039 p.Gln237Arg Polymorphism rs11977216 - GIMAP6 Q6P9H5 VAR_049533 p.Val65Ile Polymorphism rs17173519 - GIMAP7 Q8NHV1 VAR_049534 p.Arg83Cys Polymorphism rs3735080 - GIMAP8 Q8ND71 VAR_044129 p.Ile301Thr Polymorphism rs2293283 - GIN1 Q9NXP7 VAR_043041 p.Gly22Cys Polymorphism rs17851289 - GIN1 Q9NXP7 VAR_043042 p.Thr239Met Polymorphism rs34813 - GINS1 Q14691 VAR_051606 p.Val97Ile Polymorphism rs6076347 - GIPC2 Q8TF65 VAR_027084 p.Ser61Phe Polymorphism rs17101180 - GIPC2 Q8TF65 VAR_027085 p.Leu206Pro Polymorphism rs540742 - GIP P09681 VAR_021897 p.Ser103Gly Polymorphism rs2291725 - GIP P09681 VAR_033973 p.Asn146Ser Polymorphism rs35703924 - GIPR P48546 VAR_011808 p.Ala207Val Polymorphism rs1800436 - GIPR P48546 VAR_011809 p.Leu262Val Polymorphism rs5392 - GIPR P48546 VAR_011810 p.Glu354Gln Polymorphism rs1800437 - GIPR P48546 VAR_029333 p.Arg136Trp Polymorphism rs13306402 - GIT2 Q14161 VAR_024368 p.Asn387Ser Polymorphism rs925368 - GIT2 Q14161 VAR_048324 p.Asn338Ser Polymorphism rs9804905 - GIT2 Q14161 VAR_048325 p.Ala552Val Polymorphism rs11068997 - GJA1 P17302 VAR_014094 p.Asp124Glu Polymorphism rs2228966 - GJA1 P17302 VAR_014095 p.Arg148Gln Polymorphism rs2228960 - GJA1 P17302 VAR_014096 p.Ala168Thr Polymorphism rs2228961 - GJA1 P17302 VAR_014097 p.Tyr185His Polymorphism rs2228962 - GJA1 P17302 VAR_014098 p.Arg202Cys Polymorphism rs2228964 - GJA1 P17302 VAR_014099 p.Thr204Met Polymorphism rs2228965 - GJA1 P17302 VAR_014100 p.Arg239Trp Polymorphism rs2227887 - GJA1 P17302 VAR_014101 p.Pro283Leu Polymorphism rs2228974 - GJA1 P17302 VAR_014102 p.Thr290Asn Polymorphism rs2227881 - GJA1 P17302 VAR_015747 p.Tyr17Ser Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015748 p.Ser18Pro Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015749 p.Gly21Arg Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015750 p.Gly22Glu Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015751 p.Lys23Thr Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015752 p.Ala40Val Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015753 p.Gln49Lys Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015755 p.Arg76Ser Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015756 p.Leu90Val Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015757 p.Tyr98Cys Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015758 p.Lys102Asn Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015759 p.Ile130Thr Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015760 p.Lys134Glu Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015761 p.Gly138Arg Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015762 p.Arg202His Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015763 p.Val216Leu Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_015764 p.Ala253Val Polymorphism rs17653265 - GJA1 P17302 VAR_032924 p.Arg362Gln Disease rs2227885 Atrioventricular septal defect type 3 (AVSD3) [MIM:600309] GJA1 P17302 VAR_032924 p.Arg362Gln Disease rs2227885 Hypoplastic left heart syndrome type 1 (HLHS1) [MIM:241550] GJA1 P17302 VAR_032925 p.Arg376Gln Disease - Atrioventricular septal defect type 3 (AVSD3) [MIM:600309] GJA1 P17302 VAR_032925 p.Arg376Gln Disease - Hypoplastic left heart syndrome type 1 (HLHS1) [MIM:241550] GJA1 P17302 VAR_038356 p.Ser27Pro Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038357 p.Ile31Met Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038358 p.Ser69Tyr Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038359 p.Leu113Pro Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038360 p.Lys134Asn Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_038361 p.Gly143Ser Disease rs28931600 Syndactyly type 3 (SDTY3) [MIM:186100] GJA1 P17302 VAR_058990 p.Gly2Val Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058991 p.Leu7Val Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058992 p.Leu11Pro Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058993 p.Val41Leu Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058994 p.Gln49Pro Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058996 p.Pro59His Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058997 p.Arg76His Disease - Hallermann-Streiff syndrome (HSS) [MIM:234100] GJA1 P17302 VAR_058998 p.His95Arg Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_058999 p.Val96Ala Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059000 p.Val96Glu Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059001 p.Val96Met Disease rs28931601 Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059002 p.Leu106Pro Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059003 p.Glu110Asp Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059004 p.Met147Thr Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059005 p.Thr154Ala Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059006 p.Thr154Asn Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059008 p.His194Pro Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059009 p.Ser201Phe Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059010 p.Ser220Tyr Disease - Oculodentodigital dysplasia (ODDD) [MIM:164200] GJA1 P17302 VAR_059011 p.Ser251Thr Unclassified - - GJA1 P17302 VAR_059012 p.Ala253Pro Unclassified - - GJA1 P17302 VAR_059013 p.Thr326Ala Polymorphism - - GJA1 P17302 VAR_059014 p.Glu352Gly Unclassified - - GJA1 P17302 VAR_059015 p.Ser364Pro Unclassified - - GJA1 P17302 VAR_059016 p.Ser365Asn Unclassified - - GJA1 P17302 VAR_059017 p.Ser373Gly Polymorphism - - GJA3 Q9Y6H8 VAR_009158 p.Asn63Ser Disease - Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885] GJA3 Q9Y6H8 VAR_022426 p.Leu299Met Polymorphism rs968566 - GJA3 Q9Y6H8 VAR_023447 p.Pro187Leu Disease - Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885] GJA3 Q9Y6H8 VAR_030020 p.Leu11Ser Unclassified - - GJA3 Q9Y6H8 VAR_030021 p.Phe32Leu Disease - Cataract autosomal dominant (ADC) [MIM:604219] GJA3 Q9Y6H8 VAR_030022 p.Pro59Leu Disease - Cataract autosomal dominant (ADC) [MIM:604219] GJA3 Q9Y6H8 VAR_030023 p.Arg76His Disease - Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885] GJA3 Q9Y6H8 VAR_038796 p.Trp45Ser Disease - Cataract autosomal dominant (ADC) [MIM:604219] GJA4 P35212 VAR_009159 p.Pro71Ser Polymorphism - - GJA4 P35212 VAR_009160 p.Ala128Val Polymorphism - - GJA4 P35212 VAR_009161 p.Val130Ile Polymorphism rs41266431 - GJA4 P35212 VAR_009162 p.Pro319Ser Polymorphism rs1764391 - GJA5 P36382 VAR_035013 p.Pro88Ser Disease - Familial atrial standstill (FAS) [MIM:108770] GJA5 P36382 VAR_035014 p.Ala96Ser Disease - Familial atrial standstill (FAS) [MIM:108770] GJA8 P48165 VAR_002005 p.Pro88Ser Disease - Cataract zonular pulverulent type 1 (CZP1) [MIM:116200] GJA8 P48165 VAR_037642 p.Val64Gly Disease - Cataract zonular pulverulent type 1 (CZP1) [MIM:116200] GJA8 P48165 VAR_038797 p.Arg23Thr Unclassified - - GJA8 P48165 VAR_038798 p.Val44Glu Disease - Cataract-microcornea syndrome (CAMIS) [MIM:116150] GJA8 P48165 VAR_038799 p.Glu48Lys Disease - Cataract zonular pulverulent type 1 (CZP1) [MIM:116200] GJA8 P48165 VAR_038800 p.Arg198Gln Disease - Cataract-microcornea syndrome (CAMIS) [MIM:116150] GJA8 P48165 VAR_038801 p.Ile247Met Disease - Cataract zonular pulverulent type 1 (CZP1) [MIM:116200] GJA9 P57773 VAR_019392 p.Val497Ile Polymorphism rs880303 - GJB1 P08034 VAR_002006 p.Trp3Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002007 p.Trp3Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002008 p.Tyr7Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002009 p.Thr8Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002010 p.Ser11Gly Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002011 p.Gly12Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002012 p.Val13Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002013 p.Val13Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002014 p.Asn14Lys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002015 p.Arg15Gln Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002016 p.Arg15Trp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002017 p.His16Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002018 p.Ile20Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002019 p.Gly21Asp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002020 p.Arg22Gly Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002021 p.Arg22Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002022 p.Arg22Gln Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002023 p.Val23Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002024 p.Leu25Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002025 p.Ser26Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002026 p.Ile28Thr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002028 p.Phe29Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002029 p.Ile30Asn Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002030 p.Met34Thr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002031 p.Met34Val Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002032 p.Val35Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002033 p.Val38Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002034 p.Ala39Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002035 p.Ala39Val Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002036 p.Ala40Val Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002037 p.Glu41Lys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002038 p.Val43Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002039 p.Trp44Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002040 p.Ser49Tyr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002041 p.Ser50Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002042 p.Cys53Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002043 p.Leu56Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002044 p.Pro58Arg Unclassified - - GJB1 P08034 VAR_002045 p.Gly59Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002046 p.Cys60Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002047 p.Val63Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002048 p.Cys64Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002049 p.Tyr65Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002051 p.Arg75Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002052 p.Arg75Gln Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002053 p.Arg75Trp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002054 p.Trp77Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002055 p.Gln80Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002056 p.Leu81Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002057 p.Leu83Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002058 p.Val84Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002059 p.Ser85Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002060 p.Ser85Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002061 p.Thr86Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002062 p.Thr86Asn Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002063 p.Thr86Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002064 p.Pro87Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002065 p.Pro87Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002066 p.Pro87Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002067 p.Leu89Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002068 p.Leu90His Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002069 p.Met93Val Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002070 p.His94Gln Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002071 p.His94Tyr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002072 p.Val95Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002073 p.His100Tyr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002074 p.Glu102Gly Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002075 p.Lys103Glu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002076 p.Arg107Trp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002078 p.Lys124Asn Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002079 p.Ser128Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002080 p.Trp133Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002081 p.Trp133Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002082 p.Tyr135Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002083 p.Val139Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002084 p.Phe141Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002085 p.Arg142Glu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002086 p.Arg142Trp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002088 p.Phe149Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002089 p.Leu156Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002090 p.Leu156Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002091 p.Tyr157Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002092 p.Pro158Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002093 p.Pro158Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002094 p.Pro158Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002095 p.Gly159Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002096 p.Tyr160His Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002097 p.Ala161Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002098 p.Arg164Gln Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002099 p.Arg164Trp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002100 p.Pro172Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002101 p.Pro172Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002102 p.Cys173Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002103 p.Asn175Asp Unclassified - - GJB1 P08034 VAR_002104 p.Asp178Tyr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002105 p.Cys179Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002106 p.Phe180Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002107 p.Val181Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002108 p.Ser182Thr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002109 p.Arg183Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002110 p.Arg183His Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002111 p.Arg183Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002112 p.Pro184Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002114 p.Glu186Lys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002115 p.Lys187Glu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002116 p.Val189Gly Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002117 p.Val189Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002119 p.Phe193Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002120 p.Met194Val Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002121 p.Ser198Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002122 p.Gly199Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002123 p.Cys201Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002124 p.Ile203Asn Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002125 p.Leu204Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002126 p.Asn205Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002127 p.Glu208Lys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002129 p.Arg215Trp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002130 p.Arg219Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002131 p.Arg219His Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002132 p.Arg220Gly Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002133 p.Arg230Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002134 p.Arg230Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002135 p.Phe235Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_002136 p.Arg238His Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_008137 p.Thr55Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_008138 p.Val120Glu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_012313 p.Tyr65His Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_021611 p.Val136Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_021611 p.Val136Ala Disease - The phenotype of Dejerine-Sottas syndrome (DSS) [MIM:145900] GJB1 P08034 VAR_021612 p.Cys168Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029895 p.Thr8Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029896 p.Leu9Trp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029898 p.Trp24Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029899 p.Leu25Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029900 p.Ser26Trp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029901 p.Ile28Asn Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029902 p.Ile30Thr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029903 p.Met34Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029904 p.Met34Lys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029905 p.Val37Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029906 p.Ala40Thr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029907 p.Ser49Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029908 p.Thr55Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029909 p.Thr55Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029910 p.Gln57His Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029911 p.Gly59Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029912 p.Cys64Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029913 p.Phe69Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029914 p.Pro70Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029915 p.Leu90Val Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029916 p.Val91Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029917 p.His94Asp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029919 p.Lys104Thr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029920 p.Leu108Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029922 p.Val125Asp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029923 p.His126Tyr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029924 p.Ile127Met Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029925 p.Ile127Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029926 p.Thr130Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029927 p.Leu131Pro Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029928 p.Ser138Asn Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029929 p.Arg142Gln Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029930 p.Glu146Lys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029931 p.Ala147Asp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029932 p.Phe149Val Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029933 p.Tyr151Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029934 p.Phe153Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029935 p.Gly159Asp Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029936 p.Cys168Tyr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029937 p.Pro172Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029938 p.Pro172Arg Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029939 p.Val177Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029940 p.Val177Glu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029941 p.Phe180Ser Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029942 p.Val181Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029943 p.Pro184Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029944 p.Thr191Ala Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029945 p.Val192Phe Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029946 p.Phe193Leu Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029947 p.Cys201Tyr Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029948 p.Leu204Val Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029949 p.Asn205Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029950 p.Glu208Gly Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029952 p.Tyr211His Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029953 p.Ile213Val Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029954 p.Arg215Gln Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029955 p.Leu239Ile Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029956 p.Arg264Cys Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB1 P08034 VAR_029957 p.Cys280Gly Disease - Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] GJB2 P29033 VAR_002137 p.Val27Ile Polymorphism rs2274084 - GJB2 P29033 VAR_002138 p.Met34Thr Unclassified rs35887622 - GJB2 P29033 VAR_002139 p.Val37Ile Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002140 p.Arg75Trp Disease - Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_002140 p.Arg75Trp Disease - Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_002141 p.Trp77Arg Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002142 p.Phe83Leu Polymorphism - - GJB2 P29033 VAR_002143 p.Val84Leu Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002144 p.Val95Met Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002145 p.Ser113Arg Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_002146 p.Gly160Ser Polymorphism rs34988750 - GJB2 P29033 VAR_008709 p.Trp44Cys Disease - Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_008710 p.Asp66His Disease - Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_008710 p.Asp66His Disease - Vohwinkel syndrome (VS) [MIM:124500] GJB2 P29033 VAR_009965 p.Gly59Ala Disease - Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_009966 p.Glu114Gly Polymorphism rs2274083 - GJB2 P29033 VAR_009967 p.Val153Ile Unclassified - - GJB2 P29033 VAR_009968 p.Cys169Tyr Polymorphism - - GJB2 P29033 VAR_009969 p.Arg184Trp Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_009970 p.Ile203Thr Polymorphism - - GJB2 P29033 VAR_015453 p.Gly12Arg Disease - Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] GJB2 P29033 VAR_015454 p.Ser17Phe Disease rs28929485 Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] GJB2 P29033 VAR_015455 p.Gly45Glu Unclassified - - GJB2 P29033 VAR_015456 p.Asp50Asn Disease rs28931594 Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540] GJB2 P29033 VAR_015456 p.Asp50Asn Disease rs28931594 Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] GJB2 P29033 VAR_015457 p.Ile71Thr Unclassified - - GJB2 P29033 VAR_015458 p.Thr86Arg Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015459 p.Thr123Asn Polymorphism - - GJB2 P29033 VAR_015460 p.Arg143Trp Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015461 p.Phe191Leu Polymorphism - - GJB2 P29033 VAR_015935 p.Asp50Tyr Disease - Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] GJB2 P29033 VAR_015936 p.Arg75Gln Disease - Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_015937 p.Leu90Pro Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015938 p.Ile111Thr Polymorphism - - GJB2 P29033 VAR_015939 p.Arg127His Polymorphism - - GJB2 P29033 VAR_015940 p.Arg143Gln Disease - Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_015941 p.Asp159Val Disease rs28931592 Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015942 p.Arg165Trp Polymorphism - - GJB2 P29033 VAR_015943 p.Arg184Pro Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_015944 p.Cys202Phe Disease - Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_016839 p.Arg32Leu Polymorphism - - GJB2 P29033 VAR_023605 p.Arg32His Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023607 p.Leu79Pro Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023608 p.Gln80Lys Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023609 p.Met93Ile Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023611 p.Glu129Lys Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023612 p.Val167Met Unclassified - - GJB2 P29033 VAR_023613 p.Val178Ala Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023614 p.Arg184Gln Disease - Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_023615 p.Ala197Ser Disease - Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_023616 p.Ile203Lys Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_023617 p.Leu214Pro Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB2 P29033 VAR_032749 p.Trp44Ser Disease - Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_032750 p.Asn54Lys Disease - Bart-Pumphrey syndrome (BPS) [MIM:149200] GJB2 P29033 VAR_032751 p.Gly59Ser Disease - Bart-Pumphrey syndrome (BPS) [MIM:149200] GJB2 P29033 VAR_032752 p.Asp179Asn Disease rs28931595 Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_057959 p.Lys168Arg Unclassified - - GJB2 P29033 VAR_060798 p.Asp46Glu Disease - Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] GJB2 P29033 VAR_060799 p.His73Arg Disease - Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] GJB2 P29033 VAR_060800 p.Val84Met Disease - Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] GJB3 O75712 VAR_002147 p.Gly12Asp Disease - Erythrokeratodermia variabilis (EKV) [MIM:133200] GJB3 O75712 VAR_002148 p.Gly12Arg Disease - Erythrokeratodermia variabilis (EKV) [MIM:133200] GJB3 O75712 VAR_002149 p.Cys86Ser Disease - Erythrokeratodermia variabilis (EKV) [MIM:133200] GJB3 O75712 VAR_002150 p.Glu183Lys Disease - Deafness autosomal dominant type 2B (DFNA2B) [MIM:612644] GJB3 O75712 VAR_011978 p.Arg32Trp Polymorphism rs1805063 - GJB3 O75712 VAR_015085 p.Arg42Pro Disease - Erythrokeratodermia variabilis (EKV) [MIM:133200] GJB3 O75712 VAR_015086 p.Phe137Leu Disease - Erythrokeratodermia variabilis (EKV) [MIM:133200] GJB3 O75712 VAR_015087 p.Ile141Val Disease - Deafness autosomal dominant type 2B (DFNA2B) [MIM:612644] GJB3 O75712 VAR_022423 p.Val200Ile Polymorphism - - GJB4 Q9NTQ9 VAR_010206 p.Phe137Leu Disease - Erythrokeratodermia variabilis (EKV) [MIM:133200] GJB4 Q9NTQ9 VAR_015088 p.Arg103Cys Polymorphism rs9426009 - GJB4 Q9NTQ9 VAR_015089 p.Arg124Gln Unclassified - - GJB4 Q9NTQ9 VAR_015090 p.Arg160Cys Unclassified - - GJB4 Q9NTQ9 VAR_015091 p.Cys169Trp Unclassified - - GJB4 Q9NTQ9 VAR_015092 p.Glu204Ala Polymorphism rs3738346 - GJB6 O95452 VAR_008711 p.Thr5Met Disease - Deafness autosomal dominant type 3B (DFNA3B) [MIM:612643] GJB6 O95452 VAR_015696 p.Gly11Arg Disease - Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] GJB6 O95452 VAR_015697 p.Ala88Val Disease rs28937872 Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] GJB6 O95452 VAR_016838 p.Val37Glu Disease - Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] GJB6 O95452 VAR_022424 p.Ser139Gly Polymorphism - - GJB6 O95452 VAR_022425 p.Ser199Thr Polymorphism - - GJB6 O95452 VAR_048825 p.Asn159Ser Polymorphism rs35277762 - GJB6 O95452 VAR_057960 p.Gly59Arg Unclassified - - GJB7 Q6PEY0 VAR_047627 p.Thr20Ile Polymorphism rs4707358 - GJB7 Q6PEY0 VAR_047628 p.Phe206Leu Polymorphism rs6934603 - GJB7 Q6PEY0 VAR_061125 p.Thr177Met Polymorphism rs41273281 - GJC2 Q5T442 VAR_023754 p.Pro90Ser Disease - Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804] GJC2 Q5T442 VAR_023755 p.Tyr272Asp Disease - Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804] GJC2 Q5T442 VAR_023756 p.Met286Thr Disease - Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804] GJC2 Q5T442 VAR_063172 p.Ile36Met Disease - Spastic paraplegia autosomal recessive type 44 (SPG44) [MIM:613206] GJC2 Q5T442 VAR_063876 p.His19Pro Unclassified - - GJC2 Q5T442 VAR_063877 p.Ser48Leu Disease - Lymphedema hereditary type 1C (LMPH1C) [MIM:613480] GJC2 Q5T442 VAR_063878 p.Arg125Gln Unclassified - - GJC2 Q5T442 VAR_063879 p.Gly149Ser Unclassified - - GJC2 Q5T442 VAR_063880 p.Arg260Cys Disease - Lymphedema hereditary type 1C (LMPH1C) [MIM:613480] GJC2 Q5T442 VAR_063881 p.Pro316Leu Unclassified - - GJD4 Q96KN9 VAR_037640 p.Arg269His Unclassified - A colorectal cancer sample GJD4 Q96KN9 VAR_037641 p.Gly271Arg Unclassified - A colorectal cancer sample GJD4 Q96KN9 VAR_047626 p.Ala90Val Polymorphism rs35398622 - GKN1 Q9NS71 VAR_035923 p.Lys118Thr Unclassified - A breast cancer sample GKN2 Q86XP6 VAR_051012 p.Ser113Asn Polymorphism rs1128272 - GK P32189 VAR_001374 p.Ser185Asn Polymorphism - - GK P32189 VAR_001375 p.Asn232His Polymorphism - - GK P32189 VAR_001376 p.Ala382Thr Polymorphism - - GK P32189 VAR_001377 p.Asp446Val Disease - GK deficiency (GKD) [MIM:307030] GK P32189 VAR_010138 p.Trp509Arg Disease - GK deficiency (GKD) [MIM:307030] GK P32189 VAR_015433 p.Asn294Asp Disease - GK deficiency (GKD) [MIM:307030] GLA P06280 VAR_000431 p.Leu32Pro Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000432 p.Asn34Ser Disease rs28935192 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000433 p.Gly35Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000434 p.Pro40Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000435 p.Arg49Leu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000436 p.Cys52Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000437 p.Cys52Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000438 p.Cys56Phe Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000439 p.Cys56Gly Disease rs28935193 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000440 p.Glu59Lys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000441 p.Glu66Gln Disease rs28935191 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000442 p.Met72Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000443 p.Gly85Asp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000444 p.Leu89Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000445 p.Arg100Lys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000447 p.Arg112Cys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000448 p.Arg112His Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000450 p.Gly128Glu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000451 p.Leu131Pro Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000452 p.Cys142Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000453 p.Ala143Pro Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000454 p.Gly144Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000455 p.Pro146Ser Disease rs28935194 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000456 p.Ala156Thr Disease rs28935195 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000457 p.Ala156Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000458 p.Trp162Arg Disease rs28935196 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000459 p.Asp165Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000460 p.Leu166Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000461 p.Cys172Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000462 p.Cys202Trp Disease rs28936082 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000463 p.Pro205Thr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000464 p.Asn215Ser Disease rs28935197 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000465 p.Ile219Asn Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000466 p.Asn224Asp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000467 p.Arg227Gln Disease rs28935198 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000468 p.Asp231Asn Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000469 p.Asp244Asn Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000471 p.Asp264Val Disease rs28935486 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000472 p.Asp266Val Disease rs28935487 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000473 p.Val269Ala Disease rs28935488 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000474 p.Asn272Lys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000475 p.Gln279Glu Disease rs28935485 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000476 p.Met284Thr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000477 p.Ala288Asp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000478 p.Met296Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000479 p.Ser297Phe Disease rs28935489 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000480 p.Asn298Lys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000481 p.Arg301Gln Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000482 p.Asp313Tyr Disease rs28935490 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000483 p.Val316Glu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000484 p.Gln327Lys Disease rs28935491 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000485 p.Gly328Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000486 p.Gly328Ala Disease rs28935492 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000487 p.Arg342Gln Disease rs28935493 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000488 p.Arg356Trp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000489 p.Glu358Lys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000491 p.Gly361Arg Disease rs28935494 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_000493 p.Phe396Tyr Unclassified - - GLA P06280 VAR_012362 p.Ala20Pro Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012363 p.Ala31Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012364 p.Pro40Leu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012365 p.Met42Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012367 p.His46Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012368 p.His46Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012369 p.Trp47Gly Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012370 p.Arg49Pro Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012371 p.Arg49Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012372 p.Cys56Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012373 p.Tyr86Cys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012374 p.Leu89Pro Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012375 p.Ile91Thr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012376 p.Asp92His Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012377 p.Asp92Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012378 p.Asp93Gly Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012379 p.Cys94Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012380 p.Cys94Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012381 p.Trp95Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012382 p.Ala97Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012383 p.Arg100Thr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012384 p.Phe113Leu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012385 p.Phe113Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012386 p.Tyr134Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012387 p.Gly138Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012388 p.Cys142Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012389 p.Ala143Thr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012390 p.Ser148Asn Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012391 p.Ser148Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012392 p.Trp162Cys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012393 p.Gly163Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012394 p.Asp170Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012395 p.Cys172Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012396 p.Gly183Asp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012397 p.Met187Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012398 p.Cys202Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012400 p.Tyr216Asp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012401 p.Cys223Gly Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012402 p.Asn224Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012403 p.Trp226Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012404 p.Ala230Thr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012405 p.Ser235Cys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012406 p.Trp236Cys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012407 p.Trp236Leu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012408 p.Ile242Asn Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012409 p.Asp244His Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012410 p.Gly258Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012411 p.Pro259Leu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012412 p.Pro259Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012413 p.Gly260Ala Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012414 p.Gly261Asp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012415 p.Asn263Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012416 p.Pro265Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012418 p.Asp266Asn Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012419 p.Met267Ile Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012420 p.Gln279His Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012421 p.Gln280His Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012422 p.Trp287Cys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012423 p.Trp287Gly Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012424 p.Ile289Phe Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012425 p.Met296Ile Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012426 p.Asn298His Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012427 p.Asn298Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012430 p.Asn320Lys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012431 p.Asn320Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012432 p.Gln321Glu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012433 p.Trp340Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012434 p.Glu341Lys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012435 p.Arg363His Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012436 p.Gly373Asp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012437 p.Gly373Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012438 p.Ala377Asp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012439 p.Cys378Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012440 p.Pro409Ala Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_012441 p.Pro409Thr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_032290 p.Ser65Thr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_032291 p.Asp266His Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_032292 p.Asn272Ser Disease rs28935495 Fabry disease (FD) [MIM:301500] GLA P06280 VAR_032293 p.Thr410Ala Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062551 p.Met42Leu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062552 p.Gly43Arg Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062553 p.His46Pro Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062554 p.Asp93Asn Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062555 p.Arg112Ser Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062556 p.Leu120Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062557 p.Ala135Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062558 p.Gly171Asp Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062559 p.Ser201Phe Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062560 p.Ile219Thr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062561 p.Asp234Glu Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062562 p.Asp264Tyr Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062563 p.Ser276Gly Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062564 p.Ala285Pro Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062565 p.Leu300Phe Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062566 p.Gly328Val Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062567 p.Glu338Lys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062568 p.Arg356Gln Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062569 p.Glu358Ala Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062570 p.Gly360Cys Disease - Fabry disease (FD) [MIM:301500] GLA P06280 VAR_062571 p.Leu414Ser Disease - Fabry disease (FD) [MIM:301500] GLB1L3 Q8NCI6 VAR_031477 p.Arg163Pro Polymorphism rs472287 - GLB1L3 Q8NCI6 VAR_031478 p.Val474Met Polymorphism rs2509062 - GLB1 P16278 VAR_003329 p.Arg49Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003330 p.Ile51Thr Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_003331 p.Gly123Arg Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003332 p.Arg201Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003332 p.Arg201Cys Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_003333 p.Trp273Leu Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_003334 p.Tyr316Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003335 p.Arg457Gln Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_003336 p.Arg482His Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_003336 p.Arg482His Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_003337 p.Trp509Cys Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_008671 p.Pro10Leu Disease rs7637099 GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008672 p.Arg59His Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008673 p.Thr82Met Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_008674 p.Tyr83His Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_008675 p.Arg121Ser Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008676 p.Arg208Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008677 p.Val240Met Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008678 p.Arg482Cys Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_008679 p.Asp491Asn Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008680 p.Arg521Cys Unclassified rs4302331 - GLB1 P16278 VAR_008681 p.Ser532Gly Polymorphism - - GLB1 P16278 VAR_008682 p.Lys578Arg Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008683 p.Arg590His Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_008684 p.Tyr591Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008685 p.Tyr591Asn Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_008686 p.Glu632Gly Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_013541 p.Arg148Ser Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013542 p.Arg201His Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_013543 p.Asp214Tyr Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013544 p.Val216Ala Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013545 p.Pro263Ser Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013546 p.Asn266Ser Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013547 p.Tyr270Asp Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013548 p.His281Tyr Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013548 p.His281Tyr Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013549 p.Asp332Asn Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013550 p.Gln408Pro Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_013551 p.Gly438Glu Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_013551 p.Gly438Glu Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_013552 p.Asn484Lys Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_013553 p.Gly494Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013554 p.Thr500Ala Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_013555 p.Gly579Asp Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_013555 p.Gly579Asp Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_026129 p.Arg59Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_026130 p.Arg68Trp Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_026131 p.Asp151Tyr Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_026132 p.Thr239Met Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_026133 p.Leu436Phe Polymorphism rs34421970 - GLB1 P16278 VAR_037937 p.Gly134Val Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037939 p.Leu155Arg Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_037939 p.Leu155Arg Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_037940 p.Leu162Ser Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037942 p.Ser434Leu Unclassified - - GLB1 P16278 VAR_037943 p.Asp491Tyr Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037944 p.Pro549Leu Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037945 p.Gly554Glu Unclassified - - GLB1 P16278 VAR_037946 p.Arg590Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_037947 p.Arg595Trp Unclassified - - GLB1 P16278 VAR_038346 p.Gly272Asp Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_053875 p.Arg109Trp Polymorphism rs35289681 - GLB1 P16278 VAR_062340 p.Arg49His Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_062341 p.Arg68Gln Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_062342 p.Lys73Glu Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_062343 p.Tyr83Cys Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062344 p.Met132Thr Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062345 p.Pro136Ser Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062346 p.Arg148Cys Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_062347 p.Ser149Phe Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062348 p.Asp151Val Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062349 p.Leu173Pro Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062350 p.Gln184Arg Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062351 p.Gly190Asp Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062352 p.Asp198Tyr Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062353 p.Tyr199Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062354 p.Gln255His Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062355 p.Leu264Ser Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_062356 p.Asn318His Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062357 p.Thr329Ile Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062358 p.Asp332Glu Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062359 p.Tyr333His Disease - GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] GLB1 P16278 VAR_062360 p.Lys346Asn Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062361 p.Tyr347Cys Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062362 p.Pro397Ala Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062363 p.Thr420Lys Disease - GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] GLB1 P16278 VAR_062364 p.Thr420Pro Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062365 p.Leu422Arg Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062366 p.Asp441Asn Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062367 p.Arg442Gln Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLB1 P16278 VAR_062368 p.Tyr444Cys Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062369 p.Gly494Ser Disease - Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] GLB1 P16278 VAR_062370 p.Pro597Ser Disease - GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] GLCE O94923 VAR_055837 p.Met65Val Polymorphism rs12440300 - GLCE O94923 VAR_057958 p.Val597Ile Polymorphism rs3865014 - GLDC P23378 VAR_004979 p.Ser564Ile Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_016849 p.Ala283Pro Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDC P23378 VAR_016850 p.Pro329Thr Unclassified - - GLDC P23378 VAR_016851 p.Arg515Ser Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899] GLDN Q6ZMI3 VAR_027039 p.Ser141Asn Polymorphism rs17648128 - GLDN Q6ZMI3 VAR_050424 p.Ser265Asn Polymorphism rs17648128 - GLDN Q6ZMI3 VAR_061484 p.Asp351Asn Polymorphism rs35223886 - GLE1 Q53GS7 VAR_024056 p.Gly130Asp Polymorphism rs17852725 - GLE1 Q53GS7 VAR_024057 p.Ile243Val Polymorphism rs2275260 - GLE1 Q53GS7 VAR_024058 p.Arg590Gln Polymorphism rs17856852 - GLE1 Q53GS7 VAR_043875 p.Arg569His Disease - Lethal congenital contracture syndrome type 1 (LCCS1) [MIM:253310] GLE1 Q53GS7 VAR_043876 p.Val617Met Disease - Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890] GLE1 Q53GS7 VAR_043877 p.Ile684Thr Disease - Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890] GLI1 P08151 VAR_015114 p.Asp884Ala Polymorphism - - GLI1 P08151 VAR_015115 p.Gly933Asp Polymorphism rs2228224 - GLI1 P08151 VAR_015116 p.Glu1100Gln Polymorphism rs2228226 - GLI1 P08151 VAR_035557 p.Pro210Ala Unclassified - A breast cancer sample GLI1 P08151 VAR_035558 p.Thr514Ile Unclassified - A breast cancer sample GLI1 P08151 VAR_035559 p.Glu817Gln Unclassified - A breast cancer sample GLI1 P08151 VAR_052723 p.Gly1012Val Polymorphism rs2229300 - GLI2 P10070 VAR_032975 p.Arg479Gly Disease - Holoprosencephaly type 9 (HPE9) [MIM:610829] GLI2 P10070 VAR_032976 p.Pro932Ser Disease - Holoprosencephaly type 9 (HPE9) [MIM:610829] GLI2 P10070 VAR_032977 p.Met1444Ile Disease - Holoprosencephaly type 9 (HPE9) [MIM:610829] GLI2 P10070 VAR_032978 p.Pro1554Leu Disease - Holoprosencephaly type 9 (HPE9) [MIM:610829] GLI2 P10070 VAR_047303 p.Asp449His Polymorphism rs13427953 - GLI2 P10070 VAR_047304 p.Ser579Ile Polymorphism rs12618388 - GLI2 P10070 VAR_047305 p.Pro625Ser Polymorphism rs3099537 - GLI2 P10070 VAR_047306 p.Ala1156Ser Polymorphism rs3738880 - GLI2 P10070 VAR_047307 p.Asp1306Asn Polymorphism rs12711538 - GLI3 P10071 VAR_009876 p.Gly727Arg Disease - Polydactyly postaxial type A1 (PAPA1) [MIM:174200] GLI3 P10071 VAR_009876 p.Gly727Arg Disease - Polydactyly postaxial type B polydactyly (PAPB) [MIM:174200] GLI3 P10071 VAR_010052 p.Asp440Glu Polymorphism - - GLI3 P10071 VAR_010053 p.Cys515Gly Disease - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_010054 p.Cys520Tyr Disease - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_010055 p.Pro707Ser Disease - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_010056 p.Ile808Met Disease - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_010057 p.Arg1537Cys Polymorphism rs35364414 - GLI3 P10071 VAR_021481 p.Arg625Trp Disease - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_021482 p.Ala934Pro Disease rs28933372 Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] GLI3 P10071 VAR_028276 p.Thr183Ala Polymorphism rs846266 - GLI3 P10071 VAR_028278 p.Pro998Leu Polymorphism rs929387 - GLI3 P10071 VAR_034865 p.Gly1336Glu Polymorphism rs35280470 - GLI3 P10071 VAR_035560 p.Pro169Leu Unclassified - A colorectal cancer sample GLI3 P10071 VAR_035561 p.Ser1304Pro Unclassified - A colorectal cancer sample GLI4 P10075 VAR_052734 p.Ala180Thr Polymorphism rs1056148 - GLIPR1 P48060 VAR_048833 p.Arg211Gln Polymorphism rs3736392 - GLIPR1 P48060 VAR_061128 p.Asp163Glu Polymorphism rs28932170 - GLIS1 Q8NBF1 VAR_033544 p.Phe157Leu Polymorphism rs34961060 - GLIS1 Q8NBF1 VAR_047031 p.Thr110Ala Polymorphism rs4307514 - GLIS1 Q8NBF1 VAR_047032 p.Ala187Gly Polymorphism rs35227000 - GLIS2 Q9BZE0 VAR_032256 p.Thr492Ala Polymorphism rs8057701 - GLIS3 Q8NEA6 VAR_031062 p.Pro301Gln Polymorphism rs6415788 - GLIS3 Q8NEA6 VAR_047148 p.Ser269Pro Polymorphism rs806052 - GLIS3 Q8NEA6 VAR_047149 p.Pro578Leu Polymorphism rs10973986 - GLMN Q92990 VAR_061653 p.Leu336Ser Polymorphism rs35258161 - GLO1 Q04760 VAR_013481 p.Glu111Ala Polymorphism rs4746 - GLO1 Q04760 VAR_031078 p.Cys19Tyr Polymorphism rs17855424 - GLOD4 Q9HC38 VAR_031128 p.Met282Ile Polymorphism rs17851349 - GLP1R P43220 VAR_015098 p.Leu260Phe Polymorphism rs1042044 - GLP1R P43220 VAR_018924 p.Pro7Leu Polymorphism rs10305420 - GLP1R P43220 VAR_018925 p.Arg20Lys Polymorphism rs10305421 - GLP1R P43220 VAR_018926 p.Arg44His Polymorphism rs2295006 - GLP1R P43220 VAR_018927 p.Arg131Gln Polymorphism rs3765467 - GLP1R P43220 VAR_018928 p.Gly168Ser Polymorphism rs6923761 - GLP1R P43220 VAR_018929 p.Ala316Thr Polymorphism rs10305492 - GLP1R P43220 VAR_018930 p.Ser333Cys Polymorphism rs10305493 - GLP1R P43220 VAR_018931 p.Arg421Gln Polymorphism rs10305510 - GLP2R O95838 VAR_033967 p.His22Leu Polymorphism rs8072568 - GLP2R O95838 VAR_033968 p.Asp470Asn Polymorphism rs17681684 - GLP2R O95838 VAR_033969 p.Arg523His Polymorphism rs16958918 - GLRA1 P23415 VAR_000296 p.Ile272Asn Disease - Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000297 p.Gln294His Disease - Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000298 p.Arg299Leu Disease - Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000299 p.Arg299Gln Disease - Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000300 p.Lys304Glu Disease - Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_000301 p.Tyr307Cys Disease - Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_010112 p.Pro278Thr Disease - Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_010113 p.Arg280His Disease - Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] GLRA1 P23415 VAR_010114 p.Arg428His Disease - Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] GLRB P48167 VAR_035070 p.Gly251Asp Disease - Hyperekplexia type 2 (HKPX2) [MIM:614619] GLRX2 Q9NS18 VAR_025234 p.Lys95Glu Polymorphism rs34237236 - GLRX3 O76003 VAR_016875 p.Gln21His Polymorphism rs13991 - GLRX3 O76003 VAR_016876 p.Pro123Ser Polymorphism rs2274217 - GLRX5 Q86SX6 VAR_026125 p.Ala146Thr Polymorphism rs11628901 - GLRX P35754 VAR_049189 p.Asp47Tyr Polymorphism rs4767 - GLS2 Q9UI32 VAR_031615 p.Leu581Pro Polymorphism rs2657879 - GLS O94925 VAR_049188 p.Ala254Pro Polymorphism rs16833035 - GLT25D2 Q8IYK4 VAR_036978 p.Val475Ile Unclassified - A breast cancer sample GLT6D1 Q7Z4J2 VAR_037382 p.His195Arg Polymorphism rs35762223 - GLT6D1 Q7Z4J2 VAR_037383 p.Pro219Ser Polymorphism rs17040344 - GLT6D1 Q7Z4J2 VAR_037384 p.Ala282Glu Polymorphism rs12336965 - GLT8D1 Q68CQ7 VAR_032443 p.Arg210His Polymorphism rs2276812 - GLT8D2 Q9H1C3 VAR_049247 p.Ala37Thr Polymorphism rs17035120 - GLTSCR1 Q9NZM4 VAR_059665 p.Thr1044Ala Polymorphism rs13346368 - GLTSCR1 Q9NZM4 VAR_061663 p.Pro683Ser Polymorphism rs3745762 - GLTSCR2 Q9NZM5 VAR_011486 p.Gln389Arg Polymorphism rs1804994 - GLTSCR2 Q9NZM5 VAR_024456 p.Ser16Arg Polymorphism rs1042401 - GLUD1 P00367 VAR_008666 p.Ser498Leu Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_008667 p.Gly499Asp Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_008668 p.Gly499Ser Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_008669 p.Ser501Pro Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_008670 p.His507Tyr Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_009270 p.Arg318Lys Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_009271 p.Glu349Ala Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016760 p.Ser270Cys Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016761 p.Arg274Cys Disease rs56275071 Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016762 p.Arg318Thr Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016763 p.Tyr319Cys Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016764 p.Arg322Cys Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD1 P00367 VAR_016765 p.Arg322His Disease - Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] GLUD2 P49448 VAR_048867 p.Ser498Ala Polymorphism rs9697983 - GLUL P15104 VAR_026560 p.Arg324Cys Disease - Congenital systemic glutamine deficiency (CSGD) [MIM:610015] GLUL P15104 VAR_026561 p.Arg341Cys Disease - Congenital systemic glutamine deficiency (CSGD) [MIM:610015] GLYATL2 Q8WU03 VAR_031296 p.Pro82Ser Polymorphism rs17856514 - GLYATL2 Q8WU03 VAR_031297 p.Glu160Lys Polymorphism rs11229651 - GLYATL2 Q8WU03 VAR_031298 p.Leu168Ile Polymorphism rs17851433 - GLYAT Q6IB77 VAR_031294 p.Ser17Thr Polymorphism rs10896818 - GLYAT Q6IB77 VAR_031295 p.Asn156Ser Polymorphism rs675815 - GLYCTK Q8IVS8 VAR_032285 p.Leu170Val Polymorphism rs35130772 - GLYCTK Q8IVS8 VAR_032286 p.Thr394Ile Polymorphism rs9813489 - GLYCTK Q8IVS8 VAR_061205 p.Arg27Cys Polymorphism rs34502608 - GLYR1 Q49A26 VAR_037403 p.Asn103Asp Polymorphism rs34176249 - GLYR1 Q49A26 VAR_037404 p.His459Gln Polymorphism rs2085329 - GLYR1 Q49A26 VAR_037405 p.Tyr531Cys Polymorphism rs17703111 - GM2A P17900 VAR_006947 p.Cys138Arg Disease - GM2-gangliosidosis type AB (GM2GAB) [MIM:272750] GM2A P17900 VAR_011698 p.Arg169Pro Disease - GM2-gangliosidosis type AB (GM2GAB) [MIM:272750] GM2A P17900 VAR_013830 p.Ala19Thr Polymorphism rs1048719 - GM2A P17900 VAR_036892 p.Ile59Val Polymorphism rs153477 - GM2A P17900 VAR_036893 p.Met69Val Polymorphism rs153478 - GMCL1P1 Q8NEA9 VAR_035924 p.Val275Ala Unclassified - A colorectal cancer sample GMEB1 Q9Y692 VAR_051894 p.Val14Ala Polymorphism rs11557120 - GMFG O60234 VAR_048196 p.Glu122Lys Polymorphism rs36110047 - GMFG O60234 VAR_048197 p.Glu136Lys Polymorphism rs34035414 - GMIP Q9P107 VAR_044518 p.Asp641Asn Polymorphism rs12003 - GML Q99445 VAR_020174 p.Arg54Cys Polymorphism rs3764795 - GMNN O75496 VAR_024233 p.Asn18Thr Polymorphism rs1923185 - GMNN O75496 VAR_033959 p.Asn15His Polymorphism rs34891389 - GMNN O75496 VAR_033960 p.Leu48Phe Polymorphism rs2307307 - GMNN O75496 VAR_033961 p.Arg54Trp Polymorphism rs2307306 - GMNN O75496 VAR_053107 p.Ser60Pro Polymorphism rs2307302 - GMNN O75496 VAR_053108 p.Thr203Met Polymorphism rs2307303 - GMPPA Q96IJ6 VAR_042434 p.Ser21Phe Polymorphism rs34218609 - GMPPA Q96IJ6 VAR_042435 p.Val156Ala Polymorphism rs13396066 - GMPPB Q9Y5P6 VAR_035372 p.His126Asp Polymorphism rs34345884 - GMPPB Q9Y5P6 VAR_035373 p.Gln184Arg Polymorphism rs1466685 - GMPR2 Q9P2T1 VAR_049602 p.Gly242Asp Polymorphism rs34354104 - GMPR P36959 VAR_003969 p.Ala234Thr Polymorphism - - GMPR P36959 VAR_003970 p.Phe256Ile Polymorphism rs1042391 - GNA12 Q03113 VAR_049359 p.Phe242Leu Polymorphism rs45606633 - GNA12 Q03113 VAR_049360 p.Tyr330His Polymorphism rs45583847 - GNA13 Q14344 VAR_017160 p.Val221Leu Polymorphism rs1062597 - GNA15 P30679 VAR_028000 p.Tyr147Cys Polymorphism rs310680 - GNAQ P50148 VAR_059319 p.Glu355Asp Polymorphism rs1059531 - GNAS P63092 VAR_003439 p.Leu99Pro Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_003440 p.Arg165Cys Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_003441 p.Arg201His Disease - ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080] GNAS P63092 VAR_003441 p.Arg201His Disease - McCune-Albright syndrome (MAS) [MIM:174800] GNAS P63092 VAR_003442 p.Arg201Cys Disease rs11554273 McCune-Albright syndrome (MAS) [MIM:174800] GNAS P63092 VAR_003443 p.Gln227Arg Unclassified - - GNAS P63092 VAR_003444 p.Arg385His Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_015388 p.Arg258Trp Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_017843 p.Pro115Leu Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_017844 p.Arg201Gly Disease - McCune-Albright syndrome (MAS) [MIM:174800] GNAS P63092 VAR_017845 p.Arg201Leu Unclassified - Non-MAS endocrine tumors GNAS P63092 VAR_017846 p.Arg201Ser Disease - ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080] GNAS P63092 VAR_017847 p.Gln227His Unclassified - - GNAS P63092 VAR_017848 p.Arg231His Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_017849 p.Ser250Arg Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_017850 p.Ala366Ser Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_031872 p.Ile106Ser Unclassified - - GNAS P63092 VAR_031873 p.Asp156Asn Disease - Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_031874 p.Val159Met Disease - Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_031875 p.Thr242Ile Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_031876 p.Phe246Ser Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_031877 p.Glu259Val Disease - Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS P63092 VAR_031878 p.Arg280Gly Disease - Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_031879 p.Arg280Lys Disease - Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_031880 p.Trp281Arg Disease - Progressive osseous heteroplasia (POH) [MIM:166350] GNAS P63092 VAR_031881 p.Lys338Asn Disease - Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580] GNAS P63092 VAR_049358 p.Arg380Leu Polymorphism rs8986 - GNAS P84996 VAR_028774 p.Pro374Thr Disease - GNAS hyperfunction (GNASHYP) [MIM:139320] GNAS P84996 VAR_028776 p.Leu397Val Disease - GNAS hyperfunction (GNASHYP) [MIM:139320] GNAS P84996 VAR_035788 p.Arg201Cys Unclassified - A colorectal cancer sample GNAS P84996 VAR_035789 p.Arg201His Unclassified - A colorectal cancer sample GNAS Q5JWF2 VAR_028777 p.Ala436Asp Disease - GNAS hyperfunction (GNASHYP) [MIM:139320] GNAS Q5JWF2 VAR_028779 p.Pro459Arg Disease - GNAS hyperfunction (GNASHYP) [MIM:139320] GNAS Q5JWF2 VAR_059656 p.Arg1023Leu Polymorphism rs8986 - GNAT1 P11488 VAR_009279 p.Gly38Asp Disease - Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444] GNAT2 P19087 VAR_014783 p.Gly183Asp Polymorphism rs1799940 - GNAT2 P19087 VAR_047623 p.Leu107Ile Polymorphism rs3738766 - GNAT2 P19087 VAR_047624 p.Val124Met Polymorphism rs41280330 - GNB1L Q9BYB4 VAR_024698 p.Trp239Gly Polymorphism rs2073770 - GNB1L Q9BYB4 VAR_035882 p.Ala296Thr Unclassified - A breast cancer sample GNB1L Q9BYB4 VAR_053394 p.Glu30Lys Polymorphism rs35178436 - GNB1L Q9BYB4 VAR_053395 p.Arg37His Polymorphism rs5748449 - GNB3 P16520 VAR_014756 p.Asp76Asn Polymorphism rs2234756 - GNB3 P16520 VAR_014757 p.Gly272Ser Polymorphism rs5442 - GNB3 P16520 VAR_014758 p.Trp339Leu Polymorphism rs5444 - GNB3 P16520 VAR_029304 p.Leu280Phe Polymorphism rs28395776 - GNB3 P16520 VAR_029305 p.Gly324Glu Polymorphism rs28395775 - GNB3 P16520 VAR_049268 p.Val40Met Polymorphism rs45569331 - GNB3 P16520 VAR_049269 p.Val81Met Polymorphism rs45616032 - GNB5 O14775 VAR_049270 p.Ala213Val Polymorphism rs34637551 - GNE Q9Y223 VAR_017945 p.Pro36Leu Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017946 p.Ile200Phe Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017947 p.Asp225Asn Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017948 p.Arg246Gln Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017949 p.Arg246Trp Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017950 p.Arg263Leu Disease - Sialuria (SIALURIA) [MIM:269921] GNE Q9Y223 VAR_017951 p.Arg266Gln Disease - Sialuria (SIALURIA) [MIM:269921] GNE Q9Y223 VAR_017952 p.Arg266Trp Disease - Sialuria (SIALURIA) [MIM:269921] GNE Q9Y223 VAR_017953 p.Cys303Val Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017954 p.Asp378Tyr Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017954 p.Asp378Tyr Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017955 p.Ala460Val Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017955 p.Ala460Val Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017956 p.Ala524Val Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017957 p.Phe528Cys Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017958 p.Ile557Thr Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017959 p.Val572Leu Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017959 p.Val572Leu Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017960 p.Gly576Glu Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017961 p.Ile587Thr Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017962 p.Ala631Thr Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017963 p.Ala631Val Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017963 p.Ala631Val Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_017964 p.Tyr675His Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017965 p.Val696Met Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_017966 p.Met712Thr Disease rs28937594 Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_021771 p.Pro27Ser Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_021772 p.His132Gln Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021773 p.Arg162Cys Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_021774 p.Met171Val Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_021775 p.Asp176Val Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021776 p.Arg177Cys Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021777 p.Gly206Ser Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_021778 p.Val216Ala Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_021779 p.Arg306Gln Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021780 p.Val331Ala Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021781 p.Ile472Thr Disease - Nonaka myopathy (NM) [MIM:605820] GNE Q9Y223 VAR_021782 p.Asn519Ser Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_021783 p.Ala600Thr Disease - Inclusion body myopathy type 2 (IBM2) [MIM:600737] GNE Q9Y223 VAR_021784 p.Ala630Thr Disease - Nonaka myopathy (NM) [MIM:605820] GNGT1 P63211 VAR_033949 p.Glu50Lys Polymorphism rs17243826 - GNGT2 O14610 VAR_049271 p.Leu11Phe Polymorphism rs9895097 - GNL2 Q13823 VAR_050291 p.Gln452His Polymorphism rs12025870 - GNL3L Q9NVN8 VAR_049495 p.Arg320His Polymorphism rs2298284 - GNL3 Q9BVP2 VAR_022160 p.Arg39Gln Polymorphism rs11177 - GNL3 Q9BVP2 VAR_022161 p.Val367Met Polymorphism rs2289247 - GNLY P22749 VAR_027868 p.Thr119Ile Polymorphism rs11127 - GNMT Q14749 VAR_012766 p.Leu50Pro Disease - Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664] GNMT Q14749 VAR_012767 p.His177Asn Disease - Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664] GNMT Q14749 VAR_019840 p.Asn141Ser Disease - Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664] GNPAT O15228 VAR_006357 p.Arg211Cys Disease rs28939697 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765] GNPAT O15228 VAR_006358 p.Arg211His Disease rs28939696 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765] GNPAT O15228 VAR_025897 p.Asp519Gly Disease rs11558492 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765] GNPAT O15228 VAR_030696 p.Val495Ile Polymorphism rs11122266 - GNPAT O15228 VAR_030697 p.Tyr586His Polymorphism rs17849315 - GNPDA2 Q8TDQ7 VAR_044348 p.Pro182Ser Polymorphism rs17851302 - GNPTAB Q3T906 VAR_025416 p.Asp407Ala Disease - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_025417 p.Ala662Gly Polymorphism - - GNPTAB Q3T906 VAR_027509 p.Lys4Gln Disease rs34159654 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_027510 p.Ile348Leu Polymorphism rs7958709 - GNPTAB Q3T906 VAR_027511 p.Lys1236Met Disease - Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_053545 p.Asp190Val Polymorphism rs34946266 - GNPTAB Q3T906 VAR_062807 p.Phe374Leu Disease - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062808 p.Ser399Phe Disease - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062809 p.Ile403Thr Disease - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062810 p.Cys442Tyr Disease - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062811 p.Cys461Gly Disease - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062812 p.Gln926Pro Disease - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062813 p.His956Tyr Disease - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNPTAB Q3T906 VAR_062814 p.Leu1001Pro Disease - Mucolipidosis type II (MLII) [MIM:252500] GNPTAB Q3T906 VAR_062815 p.Asn1153Ser Disease - Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] GNRH1 P01148 VAR_013943 p.Trp16Ser Polymorphism rs6185 - GNRH2 O43555 VAR_053109 p.Ala16Val Polymorphism rs6051545 - GNRHR P30968 VAR_019311 p.Asn10Lys Disease - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019312 p.Glu90Lys Disease - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019313 p.Gln106Arg Disease - Fertile eunuch syndrome (FEUNS) [MIM:228300] GNRHR P30968 VAR_019313 p.Gln106Arg Disease - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019314 p.Ala129Asp Disease - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019315 p.Arg139His Disease - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019316 p.Ser168Arg Disease - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019317 p.Ala171Thr Disease - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019318 p.Ser217Arg Disease - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019319 p.Arg262Gln Disease - Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNRHR P30968 VAR_019320 p.Tyr284Cys Disease rs28933074 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110] GNS P15586 VAR_064070 p.Ser94Ile Disease - Mucopolysaccharidosis type 3D (MPS3D) [MIM:252940] GNS P15586 VAR_064072 p.Lys340Arg Disease - Mucopolysaccharidosis type 3D (MPS3D) [MIM:252940] GNS P15586 VAR_064073 p.Gly418Glu Disease - Mucopolysaccharidosis type 3D (MPS3D) [MIM:252940] GNS P15586 VAR_064074 p.His550Gln Polymorphism rs2230292 - GOLGA1 Q92805 VAR_047842 p.Asn220Ser Polymorphism rs35237091 - GOLGA1 Q92805 VAR_047843 p.Leu317Val Polymorphism rs583134 - GOLGA1 Q92805 VAR_047844 p.Thr425Met Polymorphism rs634710 - GOLGA2P5 Q9HBQ8 VAR_038142 p.Ala110Val Polymorphism rs12370675 - GOLGA2 Q08379 VAR_033974 p.Arg902Gly Polymorphism rs2240961 - GOLGA3 Q08378 VAR_020153 p.Gly70Glu Polymorphism rs2291256 - GOLGA3 Q08378 VAR_020154 p.Lys1185Arg Polymorphism rs2291260 - GOLGA3 Q08378 VAR_021901 p.Pro264Leu Polymorphism rs3741486 - GOLGA4 Q13439 VAR_033975 p.Gln1028Lys Polymorphism rs11718848 - GOLGA4 Q13439 VAR_033976 p.Asn1552Ser Polymorphism rs9840779 - GOLGA4 Q13439 VAR_049258 p.Arg2058Ser Polymorphism rs11924014 - GOLGA5 Q8TBA6 VAR_055859 p.Ala67Gly Polymorphism rs17128572 - GOLGA5 Q8TBA6 VAR_055860 p.Met486Val Polymorphism rs34139657 - GOLGA6A Q9NYA3 VAR_047540 p.Trp200Arg Polymorphism rs2018461 - GOLGA6B A6NDN3 VAR_042994 p.Arg200Trp Polymorphism rs2081561 - GOLGA6L2 Q8N9W4 VAR_039173 p.Arg43Gly Polymorphism rs2344900 - GOLGA6L2 Q8N9W4 VAR_039174 p.Asn54His Polymorphism rs3866720 - GOLGA6L2 Q8N9W4 VAR_039175 p.Glu64Gly Polymorphism rs2344899 - GOLGA6L2 Q8N9W4 VAR_039176 p.Trp191Arg Polymorphism rs4778531 - GOLGA6L2 Q8N9W4 VAR_039177 p.Arg235Pro Polymorphism rs12594944 - GOLGA8A A7E2F4 VAR_064650 p.Lys480Asn Polymorphism rs347880 - GOLGA8A A7E2F4 VAR_064651 p.Ser530Asn Polymorphism rs238639 - GOLGA8A A7E2F4 VAR_064652 p.Arg541Gln Polymorphism rs347879 - GOLGB1 Q14789 VAR_020155 p.Thr911Ser Polymorphism rs3732407 - GOLGB1 Q14789 VAR_020156 p.Tyr1212Cys Polymorphism rs3732410 - GOLGB1 Q14789 VAR_031671 p.Pro1249Ser Polymorphism rs33988592 - GOLGB1 Q14789 VAR_031672 p.Cys1713Phe Polymorphism rs35674179 - GOLGB1 Q14789 VAR_031673 p.Gly1765Asp Polymorphism rs1127412 - GOLGB1 Q14789 VAR_036096 p.Gln348His Unclassified - A breast cancer sample GOLGB1 Q14789 VAR_036097 p.Ala944Gly Unclassified - A breast cancer sample GOLIM4 O00461 VAR_036611 p.Ala312Val Unclassified - A breast cancer sample GOLM1 Q8NBJ4 VAR_053922 p.His217Arg Polymorphism rs2297002 - GON4L Q3T8J9 VAR_024320 p.Met1418Val Polymorphism rs2297775 - GON4L Q3T8J9 VAR_056169 p.Leu150Phe Polymorphism rs3738586 - GON4L Q3T8J9 VAR_056170 p.Thr416Ala Polymorphism rs34939643 - GON4L Q3T8J9 VAR_056171 p.Ser1197Pro Polymorphism rs676814 - GON4L Q3T8J9 VAR_056172 p.Gln1539Glu Polymorphism rs607790 - GORAB Q5T7V8 VAR_027867 p.Glu320Lys Polymorphism rs913257 - GORASP1 Q9BQQ3 VAR_051016 p.Thr425Met Polymorphism rs1109643 - GORASP2 Q9H8Y8 VAR_051013 p.Ser432Phe Polymorphism rs3770436 - GOSR2 O14653 VAR_024471 p.Arg67Lys Polymorphism rs197922 - GOT2 P00505 VAR_031710 p.Gly188Ser Polymorphism rs11076256 - GOT2 P00505 VAR_031711 p.Val346Gly Polymorphism rs30842 - GOT2 P00505 VAR_031712 p.Val428Ala Polymorphism rs17849335 - GOT2 P00505 VAR_055494 p.Ala2Ser Polymorphism rs11558171 - GP1BA P07359 VAR_005256 p.Cys81Arg Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_005257 p.Thr161Met Polymorphism rs6065 - GP1BA P07359 VAR_005258 p.Ala172Val Disease - Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670] GP1BA P07359 VAR_005258 p.Ala172Val Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_005260 p.Cys225Ser Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_005261 p.Gly249Val Disease - Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BA P07359 VAR_005262 p.Met255Val Disease - Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BA P07359 VAR_011909 p.Arg72His Polymorphism rs6068 - GP1BA P07359 VAR_011910 p.Ala254Ser Polymorphism rs382524 - GP1BA P07359 VAR_013511 p.Leu86Phe Polymorphism rs13306411 - GP1BA P07359 VAR_014206 p.Leu73Phe Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_014207 p.Leu145Pro Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BA P07359 VAR_019657 p.Gly249Ser Disease - Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BB P13224 VAR_025000 p.Tyr113Cys Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BB P13224 VAR_025001 p.Ala133Pro Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP6 Q9HCN6 VAR_059389 p.Leu317Gln Polymorphism rs1654413 - GP6 Q9HCN6 VAR_059390 p.Asn322His Polymorphism rs1671152 - GP6 Q9HCN6 VAR_060352 p.Pro219Ser Polymorphism rs1613662 - GP6 Q9HCN6 VAR_060353 p.Glu237Lys Polymorphism rs1654416 - GP6 Q9HCN6 VAR_060354 p.Ala249Thr Polymorphism rs2304167 - GP6 Q9HCN6 VAR_060355 p.Arg335Gly Polymorphism rs1654412 - GP9 P14770 VAR_005263 p.Asp37Gly Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_005264 p.Asn61Ser Disease rs5030764 Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_024996 p.Leu7Pro Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_024997 p.Cys24Arg Disease rs28933378 Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_024998 p.Leu56Pro Disease rs28933377 Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_024999 p.Phe71Ser Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_025008 p.Cys113Tyr Disease - Bernard-Soulier syndrome (BSS) [MIM:231200] GP9 P14770 VAR_025009 p.Ala156Thr Disease rs3796130 Bernard-Soulier syndrome (BSS) [MIM:231200] GPA33 Q99795 VAR_020079 p.Asp20Asn Polymorphism rs2274531 - GPA33 Q99795 VAR_049874 p.Lys165Asn Polymorphism rs16858376 - GPAM Q9HCL2 VAR_050585 p.Ser4Tyr Polymorphism rs11549703 - GPAM Q9HCL2 VAR_050586 p.Ile43Val Polymorphism rs2792751 - GPAM Q9HCL2 VAR_050587 p.Glu131Gly Polymorphism rs10787428 - GPAM Q9HCL2 VAR_050588 p.Ile386Thr Polymorphism rs35019520 - GPANK1 O95872 VAR_020096 p.Ala235Val Polymorphism rs2295666 - GPANK1 O95872 VAR_048291 p.Arg41Leu Polymorphism rs3130618 - GPANK1 O95872 VAR_048292 p.Ala112Val Polymorphism rs35265780 - GPANK1 O95872 VAR_048293 p.Ser210Ala Polymorphism rs34082689 - GPANK1 O95872 VAR_064698 p.Thr314Asn Unclassified - - GPATCH1 Q9BRR8 VAR_032303 p.Leu476Pro Polymorphism rs2287679 - GPATCH1 Q9BRR8 VAR_032304 p.His724Arg Polymorphism rs10416265 - GPATCH1 Q9BRR8 VAR_032305 p.Leu728Ser Polymorphism rs10421769 - GPATCH1 Q9BRR8 VAR_032306 p.Glu909Lys Polymorphism rs16967824 - GPATCH1 Q9BRR8 VAR_051014 p.Leu520Ser Polymorphism rs16967805 - GPATCH1 Q9BRR8 VAR_059657 p.Asp631Glu Polymorphism rs35389599 - GPATCH2L Q9NWQ4 VAR_056838 p.Val132Glu Polymorphism rs17104086 - GPATCH3 Q96I76 VAR_051015 p.Asn234Ser Polymorphism rs35243557 - GPATCH8 Q9UKJ3 VAR_059658 p.Arg1043Gln Polymorphism rs741902 - GPATCH8 Q9UKJ3 VAR_059659 p.Cys1161Trp Polymorphism rs936018 - GPBP1L1 Q9HC44 VAR_039655 p.Pro192Ser Polymorphism rs36067922 - GPBP1L1 Q9HC44 VAR_039656 p.Arg439His Polymorphism rs12093126 - GPBP1 Q86WP2 VAR_039654 p.Arg122Gly Polymorphism rs1862171 - GPC1 P35052 VAR_033977 p.Ser500Gly Polymorphism rs2228331 - GPC1 P35052 VAR_036044 p.Ala337Asp Unclassified - A breast cancer sample GPC2 Q8N158 VAR_036045 p.Asp200Asn Unclassified - A breast cancer sample GPC3 P51654 VAR_021385 p.Trp296Arg Disease - Simpson-Golabi-Behmel syndrome type 1 (SGBS1) [MIM:312870] GPC4 O75487 VAR_016191 p.Glu391Asp Polymorphism rs1129980 - GPC4 O75487 VAR_016192 p.Ala442Val Polymorphism rs1048369 - GPC5 P78333 VAR_024228 p.Ala155Val Polymorphism rs553717 - GPC6 Q9Y625 VAR_024229 p.Val412Met Polymorphism rs1535692 - GPCPD1 Q9NPB8 VAR_022060 p.Thr273Ile Polymorphism rs2273373 - GPD1L Q8N335 VAR_032114 p.Leu178Phe Polymorphism rs35447795 - GPD1L Q8N335 VAR_044044 p.Glu83Lys Disease - Sudden infant death syndrome (SIDS) [MIM:272120] GPD1L Q8N335 VAR_044045 p.Ile124Val Disease - Sudden infant death syndrome (SIDS) [MIM:272120] GPD1L Q8N335 VAR_044046 p.Arg273Cys Disease - Sudden infant death syndrome (SIDS) [MIM:272120] GPD1L Q8N335 VAR_044047 p.Ala280Val Disease - Brugada syndrome type 2 (BRGDA2) [MIM:611777] GPD1 P21695 VAR_029492 p.Ile54Val Polymorphism rs2232202 - GPD1 P21695 VAR_029493 p.Ala113Pro Polymorphism rs1128867 - GPD1 P21695 VAR_049220 p.Val197Ala Polymorphism rs2232207 - GPD2 P43304 VAR_025215 p.Arg525His Polymorphism rs1051916 - GPD2 P43304 VAR_049113 p.Arg264His Polymorphism rs2116665 - GPD2 P43304 VAR_049114 p.Lys453Gln Polymorphism rs35096779 - GPER Q99527 VAR_033319 p.Pro16Leu Polymorphism rs11544331 - GPHN Q9NQX3 VAR_044162 p.Asn10Tyr Unclassified rs121908539 - GPIHBP1 Q8IV16 VAR_044503 p.Cys14Phe Polymorphism rs11538389 - GPIHBP1 Q8IV16 VAR_044504 p.Gly56Arg Unclassified - - GPIHBP1 Q8IV16 VAR_058086 p.Gln115Pro Unclassified - - GPI P06744 VAR_002516 p.Thr5Ile Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002517 p.His20Pro Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002518 p.Arg75Gly Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002519 p.Arg83Trp Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002520 p.Gly159Ser Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002521 p.Val101Met Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002522 p.Thr195Ile Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002523 p.Thr224Met Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002524 p.Arg273His Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002525 p.Ser278Leu Disease rs34306618 Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002526 p.Ala300Pro Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002527 p.Leu339Pro Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002528 p.Gln343Arg Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002529 p.Arg347Cys Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002530 p.Arg347His Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002531 p.Thr375Arg Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002532 p.His389Arg Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002533 p.Arg472His Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002534 p.Leu487Phe Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002535 p.Glu495Lys Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002536 p.Leu517Val Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002537 p.Ile525Thr Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_002538 p.Asp539Asn Disease - Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] GPI P06744 VAR_018816 p.Ile208Thr Polymorphism rs8191371 - GPI P06744 VAR_033943 p.Arg308His Polymorphism rs2230294 - GPLD1 P80108 VAR_030743 p.Leu17Val Polymorphism rs2235501 - GPLD1 P80108 VAR_030744 p.Val30Ile Polymorphism rs1126617 - GPLD1 P80108 VAR_030745 p.Asp275Glu Polymorphism rs17300770 - GPLD1 P80108 VAR_030746 p.Gly396Ser Polymorphism rs6924628 - GPLD1 P80108 VAR_030747 p.Val461Met Polymorphism rs1062505 - GPLD1 P80108 VAR_030748 p.Met694Val Polymorphism rs1042303 - GPLD1 P80108 VAR_030749 p.Thr698Ile Polymorphism rs1772256 - GPLD1 P80108 VAR_051278 p.Ile350Val Polymorphism rs1062496 - GPM6A P51674 VAR_014895 p.Val242Leu Polymorphism rs1049820 - GPN2 Q9H9Y4 VAR_027153 p.Gln227Arg Polymorphism rs17856257 - GPN2 Q9H9Y4 VAR_027154 p.Arg264Gly Polymorphism rs3170660 - GPN3 Q9UHW5 VAR_035107 p.Ala52Val Polymorphism rs17856906 - GPN3 Q9UHW5 VAR_035108 p.Val244Ala Polymorphism rs17850320 - GPNMB Q14956 VAR_012076 p.Ser195Cys Polymorphism rs530436 - GPNMB Q14956 VAR_012077 p.Asn197His Polymorphism rs530413 - GPNMB Q14956 VAR_036262 p.Ala110Asp Unclassified - A breast cancer sample GPNMB Q14956 VAR_036263 p.Ser531Ile Unclassified - A breast cancer sample GPNMB Q14956 VAR_050603 p.Ser294Phe Polymorphism rs35499907 - GPNMB Q14956 VAR_050604 p.Pro324Leu Polymorphism rs35363287 - GPNMB Q14956 VAR_050605 p.Ser538Arg Polymorphism rs35878037 - GPR101 Q96P66 VAR_049398 p.Val124Leu Polymorphism rs1190736 - GPR101 Q96P66 VAR_049399 p.Leu376Pro Polymorphism rs5931046 - GPR107 Q5VW38 VAR_030863 p.Ala189Pro Polymorphism rs640343 - GPR108 Q9NPR9 VAR_056112 p.Leu79Pro Polymorphism rs4807897 - GPR108 Q9NPR9 VAR_060483 p.Gln36Arg Polymorphism rs340138 - GPR110 Q5T601 VAR_055928 p.Ile787Val Polymorphism rs1226475 - GPR111 Q8IZF7 VAR_024473 p.Gln148Arg Polymorphism rs6907125 - GPR111 Q8IZF7 VAR_024474 p.Ile467Val Polymorphism rs9381594 - GPR112 Q8IZF6 VAR_055929 p.Ile276Met Polymorphism rs4829829 - GPR112 Q8IZF6 VAR_059329 p.Pro368His Polymorphism rs5930931 - GPR112 Q8IZF6 VAR_059330 p.Thr1213Asn Polymorphism rs4829830 - GPR112 Q8IZF6 VAR_059331 p.Ser1540Pro Polymorphism rs912002 - GPR112 Q8IZF6 VAR_059332 p.Phe1791Leu Polymorphism rs5930932 - GPR113 Q8IZF5 VAR_024475 p.Ala404Thr Polymorphism rs2052937 - GPR115 Q8IZF3 VAR_024476 p.Lys541Asn Polymorphism rs9369738 - GPR115 Q8IZF3 VAR_036224 p.Ser674Leu Unclassified - A breast cancer sample GPR115 Q8IZF3 VAR_055930 p.Arg507Cys Polymorphism rs12110938 - GPR116 Q8IZF2 VAR_024477 p.Met856Thr Polymorphism rs547499 - GPR116 Q8IZF2 VAR_025326 p.Thr604Met Polymorphism rs586024 - GPR116 Q8IZF2 VAR_055291 p.Val801Ile Polymorphism rs9395218 - GPR119 Q8TDV5 VAR_037221 p.Ser309Leu Polymorphism rs5975187 - GPR123 Q86SQ6 VAR_055931 p.Ala183Ser Polymorphism rs34915504 - GPR123 Q86SQ6 VAR_055932 p.Gln214Leu Polymorphism rs34679676 - GPR125 Q8IWK6 VAR_033971 p.Val1043Met Polymorphism rs9002 - GPR125 Q8IWK6 VAR_033972 p.Val1166Gly Polymorphism rs3814416 - GPR126 Q86SQ4 VAR_024478 p.Lys230Gln Polymorphism rs11155242 - GPR126 Q86SQ4 VAR_054128 p.Ser123Gly Polymorphism rs17280293 - GPR126 Q86SQ4 VAR_054129 p.Gln1127Arg Polymorphism rs1262686 - GPR128 Q96K78 VAR_049459 p.Thr645Ser Polymorphism rs16842529 - GPR128 Q96K78 VAR_049460 p.Arg756His Polymorphism rs9872512 - GPR128 Q96K78 VAR_055138 p.Lys151Glu Polymorphism rs1144122 - GPR133 Q6QNK2 VAR_049461 p.Val508Met Polymorphism rs11833801 - GPR133 Q6QNK2 VAR_049462 p.Ser523Leu Polymorphism rs11061318 - GPR135 Q8IZ08 VAR_024259 p.Gln5Pro Polymorphism rs1752428 - GPR135 Q8IZ08 VAR_049402 p.Val481Ala Polymorphism rs1752427 - GPR137C Q8N3F9 VAR_053880 p.Val248Ile Polymorphism rs762063 - GPR142 Q7Z601 VAR_061219 p.His132Asn Polymorphism rs2382647 - GPR143 P51810 VAR_005507 p.Gly35Asp Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005508 p.Gly84Asp Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005509 p.Gly84Arg Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005510 p.Cys116Arg Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005511 p.Gly118Glu Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005513 p.Trp133Arg Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005514 p.Ala138Val Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005515 p.Ser152Asn Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005516 p.Ala173Asp Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005517 p.Thr232Lys Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005518 p.Glu235Lys Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_005520 p.Trp292Gly Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018130 p.Arg5Cys Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018131 p.Leu39Arg Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018132 p.Asp78Asn Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018133 p.Asp78Val Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018134 p.Cys116Ser Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018135 p.Gln124Arg Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018136 p.Gly229Val Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018137 p.Glu233Lys Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018138 p.Ile244Val Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018139 p.Ile261Asn Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018140 p.Glu271Gly Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_018141 p.Trp292Cys Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063265 p.Gly81Val Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063266 p.Ser89Phe Disease - Nystagmus congenital X-linked type 6 (NYS6) [MIM:300814] GPR143 P51810 VAR_063267 p.Cys116Gly Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063268 p.Cys116Trp Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063269 p.Trp132Arg Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063270 p.Leu134Pro Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063271 p.Thr166Asn Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063272 p.Glu185Lys Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063273 p.Arg186Pro Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR143 P51810 VAR_063274 p.Arg186Trp Disease - Albinism ocular type 1 (OA1) [MIM:300500] GPR148 Q8TDV2 VAR_049403 p.Thr317Pro Polymorphism rs272128 - GPR151 Q8TDV0 VAR_049404 p.Pro40Leu Polymorphism rs17104742 - GPR151 Q8TDV0 VAR_049405 p.Ala144Val Polymorphism rs7713676 - GPR151 Q8TDV0 VAR_049406 p.Leu261Val Polymorphism rs7709485 - GPR152 Q8TDT2 VAR_059323 p.Leu317Val Polymorphism rs1638559 - GPR153 Q6NV75 VAR_023741 p.Arg209His Polymorphism rs12735670 - GPR156 Q8NFN8 VAR_049284 p.Glu516Asp Polymorphism rs902790 - GPR158 Q5T848 VAR_049285 p.Ala425Gly Polymorphism rs2480345 - GPR158 Q5T848 VAR_049286 p.Ile1209Val Polymorphism rs10828833 - GPR15 P49685 VAR_020075 p.Pro37Ser Polymorphism rs2230344 - GPR15 P49685 VAR_049391 p.Met112Val Polymorphism rs35320046 - GPR162 Q16538 VAR_049407 p.Arg459Gly Polymorphism rs11612427 - GPR171 O14626 VAR_049408 p.Ile283Val Polymorphism rs3732756 - GPR174 Q9BXC1 VAR_049409 p.Ser162Pro Polymorphism rs3827440 - GPR179 Q6PRD1 VAR_049287 p.Gln1176Glu Polymorphism rs4399578 - GPR179 Q6PRD1 VAR_049288 p.Cys1381Arg Polymorphism rs4398144 - GPR179 Q6PRD1 VAR_049289 p.Gln1869Glu Polymorphism rs4399578 - GPR179 Q6PRD1 VAR_061204 p.Lys1150Glu Polymorphism rs55727040 - GPR180 Q86V85 VAR_035925 p.Thr32Asn Unclassified - A breast cancer sample GPR182 O15218 VAR_033464 p.Cys349Arg Polymorphism rs35493121 - GPR183 P32249 VAR_054147 p.Ala338Val Unclassified - An acute myeloid leukemia sample GPR19 Q15760 VAR_024256 p.Val189Ile Polymorphism rs4763862 - GPR1 P46091 VAR_023839 p.Ile307Val Polymorphism rs3732083 - GPR20 Q99678 VAR_055917 p.His230Arg Polymorphism rs10875472 - GPR20 Q99678 VAR_055918 p.Arg260Cys Polymorphism rs36092215 - GPR20 Q99678 VAR_055919 p.Gly313Ser Polymorphism rs34591516 - GPR31 O00270 VAR_049392 p.His91Arg Polymorphism rs6902566 - GPR32 O75388 VAR_011860 p.Phe327Leu Polymorphism rs1864011 - GPR35 Q9HC97 VAR_013601 p.Ala25Thr Polymorphism rs35146537 - GPR35 Q9HC97 VAR_013602 p.Val29Ile Polymorphism - - GPR35 Q9HC97 VAR_013603 p.Thr108Met Polymorphism rs3749171 - GPR35 Q9HC97 VAR_013604 p.Arg125Ser Polymorphism rs34778053 - GPR35 Q9HC97 VAR_013605 p.Thr253Met Polymorphism rs12468485 - GPR35 Q9HC97 VAR_013606 p.Ser294Arg Polymorphism rs3749172 - GPR35 Q9HC97 VAR_033467 p.Val76Met Polymorphism rs13387859 - GPR37L1 O60883 VAR_047455 p.Pro81Ala Polymorphism rs3795594 - GPR37L1 O60883 VAR_047456 p.Gly90Asp Polymorphism rs3795595 - GPR37L1 O60883 VAR_047457 p.Lys91Arg Polymorphism rs17854616 - GPR39 O43194 VAR_022067 p.Ala50Val Polymorphism rs2241764 - GPR39 O43194 VAR_049393 p.Arg390Cys Polymorphism rs16838944 - GPR3 P46089 VAR_011859 p.Arg222His Polymorphism rs734852 - GPR42 O15529 VAR_033468 p.Cys45Arg Polymorphism - - GPR42 O15529 VAR_033469 p.Val227Leu Polymorphism - - GPR42 O15529 VAR_033470 p.Val256Ala Polymorphism - - GPR42 O15529 VAR_062860 p.Arg44Gln Polymorphism - - GPR42 O15529 VAR_062861 p.Trp174Arg Unclassified - - GPR42 O15529 VAR_062862 p.Asn346Ser Polymorphism - - GPR45 Q9Y5Y3 VAR_035759 p.Ser7Cys Unclassified - A breast cancer sample GPR45 Q9Y5Y3 VAR_049394 p.Leu312Phe Polymorphism rs35946826 - GPR4 P46093 VAR_049390 p.Ser295Asn Polymorphism rs36012326 - GPR50 Q13585 VAR_062255 p.Thr532Ala Polymorphism rs561077 - GPR50 Q13585 VAR_062256 p.Ile606Val Polymorphism rs13440581 - GPR55 Q9Y2T6 VAR_024257 p.Gly195Val Polymorphism rs3749073 - GPR55 Q9Y2T6 VAR_049395 p.Thr215Asn Polymorphism rs34229723 - GPR56 Q9Y653 VAR_017910 p.Ser281Arg Polymorphism rs1801257 - GPR56 Q9Y653 VAR_017911 p.Gln306His Polymorphism rs1801255 - GPR56 Q9Y653 VAR_026242 p.Arg38Trp Disease - Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854] GPR56 Q9Y653 VAR_026243 p.Tyr88Cys Disease - Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854] GPR56 Q9Y653 VAR_026244 p.Cys91Ser Disease - Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854] GPR56 Q9Y653 VAR_026245 p.Cys346Ser Disease - Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854] GPR56 Q9Y653 VAR_026246 p.Arg565Trp Disease - Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854] GPR56 Q9Y653 VAR_049457 p.Met493Thr Polymorphism rs17379472 - GPR56 Q9Y653 VAR_049458 p.Pro527Leu Polymorphism rs16958679 - GPR62 Q9BZJ7 VAR_055920 p.Val313Leu Polymorphism rs323871 - GPR63 Q9BZJ6 VAR_049396 p.Val21Met Polymorphism rs35358396 - GPR64 Q8IZP9 VAR_055289 p.His290Gln Polymorphism rs35974297 - GPR64 Q8IZP9 VAR_055290 p.Asn771Ser Polymorphism rs3924227 - GPR65 Q8IYL9 VAR_022064 p.Ile231Leu Polymorphism rs3742704 - GPR68 Q15743 VAR_058714 p.Arg53Gln Polymorphism rs2230339 - GPR68 Q15743 VAR_064716 p.Asn39Ser Unclassified - - GPR75 O95800 VAR_033471 p.Ala116Thr Polymorphism rs34000641 - GPR75 O95800 VAR_033472 p.Cys160Gly Polymorphism rs35349235 - GPR75 O95800 VAR_033473 p.Leu433Val Polymorphism rs3731969 - GPR78 Q96P69 VAR_024258 p.Arg201Ser Polymorphism rs17844778 - GPR78 Q96P69 VAR_033474 p.Ala330Thr Polymorphism rs11941659 - GPR78 Q96P69 VAR_033475 p.Arg342His Polymorphism rs9685931 - GPR83 Q9NYM4 VAR_047079 p.Pro374Gln Polymorphism rs3740868 - GPR84 Q9NQS5 VAR_049397 p.Gly37Asp Polymorphism rs11170883 - GPR87 Q9BY21 VAR_035760 p.Asp191Tyr Unclassified - A colorectal cancer sample GPR87 Q9BY21 VAR_055921 p.Thr205Met Polymorphism rs35521104 - GPR88 Q9GZN0 VAR_054767 p.Val190Ile Polymorphism rs2809819 - GPR88 Q9GZN0 VAR_054768 p.Gln318His Polymorphism rs3001995 - GPR97 Q86Y34 VAR_055927 p.Ala430Thr Polymorphism rs2290178 - GPR98 Q8WXG9 VAR_025995 p.Leu127Arg Polymorphism rs41311333 - GPR98 Q8WXG9 VAR_025996 p.Arg249Lys Polymorphism rs41303344 - GPR98 Q8WXG9 VAR_025997 p.Leu1093Phe Polymorphism rs2366777 - GPR98 Q8WXG9 VAR_025998 p.Thr1927Met Polymorphism rs17544552 - GPR98 Q8WXG9 VAR_025999 p.Val1951Ile Polymorphism rs4916684 - GPR98 Q8WXG9 VAR_026000 p.Asn1985Asp Polymorphism rs41303352 - GPR98 Q8WXG9 VAR_026001 p.Pro1987Leu Polymorphism rs4916685 - GPR98 Q8WXG9 VAR_026002 p.Leu2004Phe Polymorphism rs16868972 - GPR98 Q8WXG9 VAR_026003 p.Tyr2232Cys Polymorphism rs10037067 - GPR98 Q8WXG9 VAR_026004 p.Asn2345Ser Polymorphism rs2366926 - GPR98 Q8WXG9 VAR_026005 p.Gly2379Ala Polymorphism - - GPR98 Q8WXG9 VAR_026006 p.Asn2584Ser Polymorphism rs1878878 - GPR98 Q8WXG9 VAR_026007 p.Ser2764Leu Polymorphism rs16869016 - GPR98 Q8WXG9 VAR_026008 p.Ala2803Thr Polymorphism - - GPR98 Q8WXG9 VAR_026009 p.Ala3217Val Polymorphism - - GPR98 Q8WXG9 VAR_026010 p.Gly3248Asp Polymorphism rs16869032 - GPR98 Q8WXG9 VAR_026011 p.Glu3471Lys Polymorphism rs2366928 - GPR98 Q8WXG9 VAR_026012 p.Glu5344Gly Polymorphism - - GPR98 Q8WXG9 VAR_026013 p.Thr5437Ala Polymorphism - - GPR98 Q8WXG9 VAR_046346 p.Val551Ala Polymorphism rs6889939 - GPR98 Q8WXG9 VAR_046347 p.Ile1187Val Polymorphism rs16868935 - GPR98 Q8WXG9 VAR_046348 p.Thr1916Ile Polymorphism rs35791889 - GPR98 Q8WXG9 VAR_046349 p.Arg2097Cys Polymorphism rs16868974 - GPR98 Q8WXG9 VAR_046350 p.Val3094Ile Polymorphism rs13157270 - GPR98 Q8WXG9 VAR_046351 p.Phe3347Leu Polymorphism rs10067636 - GPR98 Q8WXG9 VAR_046352 p.Glu3867Ala Polymorphism rs16869088 - GPR98 Q8WXG9 VAR_055933 p.Glu3868Ala Polymorphism rs16869088 - GPRASP1 Q5JY77 VAR_026579 p.Ala315Gly Polymorphism rs17339512 - GPRASP1 Q5JY77 VAR_049263 p.Ile779Val Polymorphism rs17292748 - GPRASP1 Q5JY77 VAR_049264 p.Pro1093Ser Polymorphism rs2235804 - GPRASP2 Q96D09 VAR_049265 p.Arg173Ser Polymorphism rs6616421 - GPRC5A Q8NFJ5 VAR_018296 p.Ser118Gly Polymorphism rs850932 - GPRC5A Q8NFJ5 VAR_049281 p.Cys9Phe Polymorphism rs11550683 - GPRC5A Q8NFJ5 VAR_049282 p.Thr182Ala Polymorphism rs12368599 - GPRC5D Q9NZD1 VAR_018297 p.Ala18Asp Polymorphism rs3741822 - GPRC6A Q5T6X5 VAR_023966 p.Pro91Ser Polymorphism rs2274911 - GPRC6A Q5T6X5 VAR_049283 p.Ile144Arg Polymorphism rs28360548 - GPRC6A Q5T6X5 VAR_061203 p.Ile599Thr Polymorphism rs35937022 - GPRIN1 Q7Z2K8 VAR_056902 p.Gly337Ala Polymorphism rs10037225 - GPRIN1 Q7Z2K8 VAR_056903 p.Ser357Pro Polymorphism rs34285890 - GPRIN1 Q7Z2K8 VAR_063136 p.Pro121Thr Polymorphism rs17854765 - GPRIN1 Q7Z2K8 VAR_063137 p.Met300Val Polymorphism rs6556276 - GPRIN2 O60269 VAR_051017 p.Leu39Val Polymorphism rs4926045 - GPRIN2 O60269 VAR_051018 p.Ser104Gly Polymorphism rs3127679 - GPRIN2 O60269 VAR_059660 p.Arg5His Polymorphism rs3127817 - GPRIN2 O60269 VAR_059661 p.Arg40His Polymorphism rs3127818 - GPRIN2 O60269 VAR_059662 p.Val47Met Polymorphism rs3127819 - GPRIN2 O60269 VAR_059663 p.Trp91Arg Polymorphism rs3127820 - GPRIN2 O60269 VAR_059664 p.Leu400Pro Polymorphism rs3127823 - GPRIN2 O60269 VAR_061656 p.Thr100Pro Polymorphism rs7090312 - GPRIN2 O60269 VAR_061657 p.Gly202Trp Polymorphism rs11204658 - GPRIN2 O60269 VAR_061658 p.Ala233Ser Polymorphism rs11204659 - GPRIN2 O60269 VAR_061659 p.Val241Met Polymorphism rs9422022 - GPRIN2 O60269 VAR_061660 p.Arg242Gly Polymorphism rs3127683 - GPRIN2 O60269 VAR_061661 p.Ser328Cys Polymorphism rs4445576 - GPRIN2 O60269 VAR_061662 p.Val375Ala Polymorphism rs3127822 - GPRIN3 Q6ZVF9 VAR_051019 p.Leu39Val Polymorphism rs11734353 - GPRIN3 Q6ZVF9 VAR_051020 p.Ala378Val Polymorphism rs6811370 - GPRIN3 Q6ZVF9 VAR_051021 p.Ser382Pro Polymorphism rs28622301 - GPRIN3 Q6ZVF9 VAR_051022 p.Pro390Ser Polymorphism rs11733183 - GPRIN3 Q6ZVF9 VAR_051023 p.Val446Ala Polymorphism rs7653897 - GPRIN3 Q6ZVF9 VAR_051024 p.Arg746Lys Polymorphism rs17015286 - GPS2 Q13227 VAR_021972 p.Thr306Ala Polymorphism rs2292065 - GPT P24298 VAR_000561 p.His14Asn Polymorphism rs1063739 - GPX1 P07203 VAR_007904 p.Pro200Leu Polymorphism rs1050450 - GPX1 P07203 VAR_020912 p.Arg5Pro Polymorphism rs8179169 - GPX1 P07203 VAR_020915 p.Ala194Thr Polymorphism - - GPX2 P18283 VAR_003615 p.Ala37Leu Unclassified - - GPX2 P18283 VAR_003616 p.Ile176Met Polymorphism - - GPX2 P18283 VAR_020916 p.Pro126Leu Polymorphism rs17881652 - GPX2 P18283 VAR_020917 p.Arg146Cys Polymorphism rs17880492 - GPX3 P22352 VAR_020943 p.Phe128Leu Polymorphism rs8177445 - GPX4 P36969 VAR_017063 p.Ser2Asn Polymorphism rs8178967 - GPX4 P36969 VAR_017064 p.Ala120Thr Unclassified - - GPX5 O75715 VAR_012040 p.Leu85Val Polymorphism rs769188 - GPX5 O75715 VAR_061206 p.Leu85Pro Polymorphism rs58554303 - GPX6 P59796 VAR_025249 p.Gln6Leu Polymorphism rs35510314 - GPX6 P59796 VAR_025250 p.Phe13Leu Polymorphism rs406113 - GPX6 P59796 VAR_025251 p.Tyr53His Polymorphism rs34825130 - GPX6 P59796 VAR_025252 p.Gln58His Polymorphism rs6922986 - GPX6 P59796 VAR_025253 p.Tyr72Asn Polymorphism rs35062161 - GPX6 P59796 VAR_025254 p.Glu136Asp Polymorphism rs35394555 - GPX6 P59796 VAR_025255 p.Val140Met Polymorphism rs36055795 - GPX6 P59796 VAR_025256 p.Pro157Ser Polymorphism rs35658392 - GPX6 P59796 VAR_025257 p.Asp161Gly Polymorphism rs34955392 - GPX6 P59796 VAR_025258 p.Val188Ala Polymorphism rs35701070 - GPX8 Q8TED1 VAR_060456 p.Lys182Arg Polymorphism rs381852 - GRAMD1C Q8IYS0 VAR_032302 p.Leu644Pro Polymorphism rs17853381 - GRAMD4 Q6IC98 VAR_042505 p.Ser159Ile Polymorphism rs36211078 - GRAP2 O75791 VAR_012079 p.Leu319Phe Polymorphism rs12759 - GRB10 Q13322 VAR_053112 p.Pro36Leu Polymorphism rs35647889 - GRB10 Q13322 VAR_053113 p.Asp558His Polymorphism rs11768472 - GRB10 Q13322 VAR_062864 p.Pro95Ser Polymorphism rs80244589 - GRB14 Q14449 VAR_065758 p.Phe90Ile Polymorphism rs61748245 - GRB14 Q14449 VAR_065759 p.His507Tyr Unclassified - - GREB1 Q4ZG55 VAR_039313 p.Asn77Thr Polymorphism rs10929757 - GREB1 Q4ZG55 VAR_039314 p.Val122Ala Polymorphism rs4669751 - GREB1 Q4ZG55 VAR_039315 p.Val346Met Polymorphism rs6744817 - GREB1 Q4ZG55 VAR_039316 p.Arg973Gln Polymorphism rs3762579 - GREB1 Q4ZG55 VAR_039317 p.Tyr1463Cys Polymorphism rs11695925 - GREB1 Q4ZG55 VAR_039318 p.Asp1687Asn Polymorphism rs2304402 - GREB1 Q4ZG55 VAR_039319 p.Leu1814Val Polymorphism rs34955282 - GREB1 Q4ZG55 VAR_061654 p.Phe359Leu Polymorphism rs35188552 - GREB1 Q4ZG55 VAR_061655 p.Ala632Thr Polymorphism rs36030386 - GREM2 Q9H772 VAR_048876 p.Val131Ile Polymorphism rs34188522 - GRHL1 Q9NZI5 VAR_025663 p.Asn191Ser Polymorphism rs16867256 - GRHL1 Q9NZI5 VAR_025664 p.Val397Ile Polymorphism rs2303920 - GRHL2 Q6ISB3 VAR_049293 p.Val415Ile Polymorphism rs3779617 - GRHL3 Q8TE85 VAR_027907 p.Asp55Glu Polymorphism rs2486668 - GRHL3 Q8TE85 VAR_055881 p.Val160Ala Polymorphism rs34637004 - GRHPR Q9UBQ7 VAR_032762 p.Arg170Gln Polymorphism rs12002324 - GRIA1 P42261 VAR_028071 p.Asp487Asn Polymorphism rs13166146 - GRIA1 P42261 VAR_028072 p.Pro521Thr Polymorphism rs13166161 - GRIA1 P42261 VAR_028073 p.Ala536Ser Polymorphism rs13166438 - GRIA1 P42261 VAR_028074 p.Ile548Met Polymorphism rs13186241 - GRIA1 P42261 VAR_028075 p.Phe588Leu Polymorphism rs13186534 - GRIA2 P42262 VAR_000303 p.Gln607Arg Polymorphism rs17850674 - GRIA2 P42262 VAR_037055 p.Gln608Arg Polymorphism rs17850675 - GRIA3 P42263 VAR_023579 p.Phe525Leu Polymorphism rs1052538 - GRIA3 P42263 VAR_043484 p.Arg450Gln Disease - Mental retardation X-linked type 94 (MRX94) [MIM:300699] GRIA3 P42263 VAR_043485 p.Arg631Ser Disease - Mental retardation X-linked type 94 (MRX94) [MIM:300699] GRIA3 P42263 VAR_043486 p.Met706Thr Disease - Mental retardation X-linked type 94 (MRX94) [MIM:300699] GRIA3 P42263 VAR_043487 p.Gly833Arg Disease - Mental retardation X-linked type 94 (MRX94) [MIM:300699] GRID1 Q9ULK0 VAR_022011 p.Val529Ile Polymorphism rs2306265 - GRID2IP A4D2P6 VAR_042909 p.Arg20Gln Polymorphism rs11761490 - GRID2 O43424 VAR_035697 p.Thr209Asn Unclassified - A colorectal cancer sample GRID2 O43424 VAR_055016 p.Thr68Met Polymorphism rs34144324 - GRID2 O43424 VAR_055017 p.Phe398Ser Polymorphism rs34796082 - GRID2 O43424 VAR_055018 p.Val490Ile Polymorphism rs10034345 - GRIK1 P39086 VAR_000304 p.Gln636Arg Unclassified - - GRIK1 P39086 VAR_012041 p.Ile757Val Polymorphism rs363494 - GRIK1 P39086 VAR_012042 p.Ala870Val Polymorphism rs363503 - GRIK1 P39086 VAR_012043 p.Leu902Ser Polymorphism rs363504 - GRIK1 P39086 VAR_012751 p.Ala332Val Polymorphism - - GRIK1 P39086 VAR_012752 p.Arg862Gln Polymorphism - - GRIK2 Q13002 VAR_000305 p.Ile567Val Unclassified - - GRIK2 Q13002 VAR_000306 p.Tyr571Cys Unclassified - - GRIK2 Q13002 VAR_000307 p.Gln621Arg Unclassified - - GRIK2 Q13002 VAR_035694 p.Glu187Gln Unclassified - A breast cancer sample GRIK2 Q13002 VAR_037633 p.Met867Ile Polymorphism rs2235076 - GRIK2 Q13002 VAR_049186 p.Val766Ile Polymorphism rs3213608 - GRIK3 Q13003 VAR_000308 p.Ser310Ala Polymorphism rs6691840 - GRIK3 Q13003 VAR_000309 p.Arg352Gln Unclassified - - GRIK3 Q13003 VAR_035695 p.Arg215His Unclassified - A colorectal cancer sample GRIK3 Q13003 VAR_035696 p.Asp391His Unclassified - A breast cancer sample GRIK4 Q16099 VAR_046998 p.Val528Ile Polymorphism rs35599906 - GRIK4 Q16099 VAR_046999 p.Met824Thr Polymorphism rs9988907 - GRIK5 Q16478 VAR_047000 p.Val527Met Polymorphism rs2230298 - GRIN1 Q05586 VAR_049187 p.Ile540Met Polymorphism rs3181457 - GRIN2A Q12879 VAR_010938 p.Lys270Glu Polymorphism - - GRIN2B Q13224 VAR_011317 p.Ser407Asn Polymorphism - - GRIN2C Q14957 VAR_037634 p.Arg1209Ser Polymorphism rs3744215 - GRIN2D O15399 VAR_035698 p.Pro140Ser Unclassified - A breast cancer sample GRIN2D O15399 VAR_035699 p.Gly286Arg Unclassified - A breast cancer sample GRIN2D O15399 VAR_035700 p.Glu527Gly Unclassified - A breast cancer sample GRIN3A Q8TCU5 VAR_019672 p.Val362Met Polymorphism rs10989591 - GRIN3A Q8TCU5 VAR_019673 p.Gly487Arg Polymorphism rs10989589 - GRIN3A Q8TCU5 VAR_019674 p.Asp835Asn Polymorphism rs10989563 - GRIN3A Q8TCU5 VAR_019675 p.Arg1041Gln Polymorphism rs3739722 - GRIN3A Q8TCU5 VAR_047150 p.Arg480His Polymorphism rs34755188 - GRIN3B O60391 VAR_019676 p.Thr157Met Polymorphism rs2240154 - GRIN3B O60391 VAR_019677 p.Arg404Trp Polymorphism rs4807399 - GRIN3B O60391 VAR_019678 p.Trp414Arg Polymorphism rs2240157 - GRIN3B O60391 VAR_019679 p.Thr577Met Polymorphism rs2240158 - GRIN3B O60391 VAR_019680 p.Ala845Thr Polymorphism rs2285906 - GRIN3B O60391 VAR_061188 p.Thr612Ala Polymorphism rs60621387 - GRINA Q7Z429 VAR_037875 p.Ser107Asn Polymorphism rs17854152 - GRIP1 Q9Y3R0 VAR_056904 p.Ala322Thr Polymorphism rs17102531 - GRK1 Q15835 VAR_006215 p.Val380Asp Disease - Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411] GRK1 Q15835 VAR_008283 p.Glu136Gln Polymorphism - - GRK1 Q15835 VAR_008284 p.Thr298Met Polymorphism - - GRK1 Q15835 VAR_008285 p.Asn330Ser Polymorphism - - GRK1 Q15835 VAR_008286 p.Arg438His Polymorphism - - GRK1 Q15835 VAR_008287 p.Cys514Ser Polymorphism - - GRK1 Q15835 VAR_008288 p.Met522Thr Polymorphism - - GRK1 Q15835 VAR_008289 p.Ser536Leu Polymorphism - - GRK1 Q15835 VAR_037904 p.Pro391His Disease - Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411] GRK4 P32298 VAR_007806 p.Val247Ile Polymorphism rs35605687 - GRK4 P32298 VAR_024573 p.Arg65Leu Polymorphism rs2960306 - GRK4 P32298 VAR_024574 p.Ala142Val Polymorphism rs1024323 - GRK4 P32298 VAR_024575 p.Val486Ala Polymorphism rs1801058 - GRK4 P32298 VAR_040516 p.Leu425Pro Polymorphism - - GRK4 P32298 VAR_046043 p.Ala116Thr Polymorphism rs34857805 - GRK4 P32298 VAR_046044 p.His383Gln Polymorphism rs55852353 - GRK4 P32298 VAR_046045 p.Val473Ile Polymorphism rs35024854 - GRK4 P32298 VAR_046046 p.Ala495Thr Polymorphism rs35463176 - GRK4 P32298 VAR_051621 p.Asp95His Polymorphism rs13305979 - GRK4 P32298 VAR_051622 p.Thr183Arg Polymorphism rs45538934 - GRK4 P32298 VAR_051623 p.Ala440Val Polymorphism rs1801058 - GRK5 P34947 VAR_040517 p.Gln41Leu Polymorphism rs17098707 - GRK5 P34947 VAR_040518 p.Ala119Val Polymorphism rs55980792 - GRK5 P34947 VAR_040519 p.Gly122Ser Polymorphism rs55902633 - GRK5 P34947 VAR_040520 p.Thr129Met Polymorphism rs34679178 - GRK5 P34947 VAR_040521 p.Leu141Ile Polymorphism rs56254855 - GRK5 P34947 VAR_040522 p.Asp163Glu Unclassified - A lung neuroendocrine carcinoma sample GRK5 P34947 VAR_040523 p.Arg304His Polymorphism rs2230349 - GRK5 P34947 VAR_059766 p.Gln172His Polymorphism rs45630572 - GRK6 P43250 VAR_040524 p.Arg31Gln Unclassified - A gastric adenocarcinoma sample GRK6 P43250 VAR_040525 p.Thr73Met Polymorphism rs56382815 - GRK6 P43250 VAR_040526 p.Ile275Met Unclassified - A breast infiltrating ductal carcinoma sample GRK7 Q8WTQ7 VAR_040527 p.Arg81His Polymorphism rs34429284 - GRK7 Q8WTQ7 VAR_040528 p.Cys113Trp Polymorphism rs56070798 - GRK7 Q8WTQ7 VAR_040529 p.Ser115Cys Polymorphism rs34769632 - GRK7 Q8WTQ7 VAR_040530 p.Ser127Thr Polymorphism rs35318124 - GRK7 Q8WTQ7 VAR_040531 p.Val196Gly Polymorphism rs55707760 - GRK7 Q8WTQ7 VAR_040532 p.Val196Met Polymorphism rs56019094 - GRK7 Q8WTQ7 VAR_040533 p.Arg226Trp Polymorphism rs35566288 - GRK7 Q8WTQ7 VAR_040534 p.Ser253Phe Unclassified - A metastatic melanoma sample GRK7 Q8WTQ7 VAR_040535 p.Glu309Gln Polymorphism rs55824414 - GRK7 Q8WTQ7 VAR_040536 p.Val313Ile Polymorphism rs56076641 - GRK7 Q8WTQ7 VAR_040537 p.Glu443Gly Polymorphism rs36009541 - GRK7 Q8WTQ7 VAR_040538 p.Pro460Thr Polymorphism rs33928105 - GRK7 Q8WTQ7 VAR_051624 p.Arg461Cys Polymorphism rs36004830 - GRM1 Q13255 VAR_024482 p.Val929Ile Polymorphism rs2941 - GRM1 Q13255 VAR_028184 p.Ser34Tyr Polymorphism rs12190109 - GRM1 Q13255 VAR_028185 p.Arg285Lys Polymorphism rs7760248 - GRM1 Q13255 VAR_028186 p.Glu741Asp Polymorphism rs3025919 - GRM1 Q13255 VAR_028187 p.Gly884Glu Polymorphism rs362936 - GRM1 Q13255 VAR_028188 p.Ser993Pro Polymorphism rs6923492 - GRM1 Q13255 VAR_036194 p.Arg696Trp Unclassified - A colorectal cancer sample GRM1 Q13255 VAR_055875 p.Ser593Pro Polymorphism rs1047005 - GRM3 Q14832 VAR_049274 p.Gly475Asp Polymorphism rs17161026 - GRM4 Q14833 VAR_012992 p.Val797Ile Polymorphism - - GRM4 Q14833 VAR_049275 p.Leu169Phe Polymorphism rs452752 - GRM6 O15303 VAR_030756 p.Gly150Ser Disease - Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270] GRM6 O15303 VAR_030757 p.Glu781Lys Disease - Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270] GRM6 O15303 VAR_036195 p.Ser191Phe Unclassified - A breast cancer sample GRM6 O15303 VAR_055876 p.Glu227Val Polymorphism rs17078898 - GRM6 O15303 VAR_055877 p.Ile236Phe Polymorphism rs17078896 - GRM6 O15303 VAR_055878 p.Met712Val Polymorphism rs17078877 - GRM6 O15303 VAR_055879 p.Ala807Val Polymorphism rs17078874 - GRM6 O15303 VAR_055880 p.Thr817Ser Polymorphism rs17078857 - GRM6 O15303 VAR_059310 p.Gln59Pro Polymorphism rs2645329 - GRM7 Q14831 VAR_003584 p.Tyr433Phe Polymorphism rs2229902 - GRM7 Q14831 VAR_049276 p.Ile495Val Polymorphism rs7634846 - GRM7 Q14831 VAR_049277 p.Gly745Glu Polymorphism rs1485174 - GRM8 O00222 VAR_014446 p.Ser10Cys Polymorphism rs769194 - GRM8 O00222 VAR_014447 p.Phe21Cys Polymorphism rs769202 - GRM8 O00222 VAR_014448 p.Arg392Gln Polymorphism rs2234947 - GRM8 O00222 VAR_014449 p.Val548Gly Polymorphism rs2234948 - GRM8 O00222 VAR_049278 p.Ile265Thr Polymorphism rs17150343 - GRM8 O00222 VAR_054477 p.Phe362Tyr Polymorphism - - GRM8 O00222 VAR_054478 p.Gly368Asp Polymorphism - - GRM8 O00222 VAR_054479 p.Leu430Phe Polymorphism - - GRM8 O00222 VAR_054752 p.Arg343Gln Polymorphism rs13309334 - GRM8 O00222 VAR_054753 p.Ile768Asn Polymorphism rs1051433 - GRM8 O00222 VAR_054754 p.Ser902Ile Polymorphism rs10225567 - GRN P28799 VAR_014830 p.Gly515Ala Polymorphism rs25647 - GRN P28799 VAR_044451 p.Ala9Asp Disease - Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485] GRN P28799 VAR_064625 p.Arg19Trp Polymorphism - - GRN P28799 VAR_064626 p.Arg55Trp Polymorphism - - GRN P28799 VAR_064627 p.Ala69Thr Polymorphism - - GRN P28799 VAR_064629 p.Ser120Tyr Polymorphism - - GRN P28799 VAR_064630 p.Thr182Met Polymorphism - - GRN P28799 VAR_064631 p.Cys221Ser Polymorphism - - GRN P28799 VAR_064632 p.Pro275Leu Polymorphism - - GRN P28799 VAR_064633 p.Asp376Asn Polymorphism - - GRN P28799 VAR_064634 p.Ser398Leu Polymorphism - - GRN P28799 VAR_064635 p.Arg433Gln Polymorphism - - GRN P28799 VAR_064636 p.Arg564His Polymorphism - - GRP P07492 VAR_027834 p.Arg4Ser Polymorphism rs1062557 - GRSF1 Q12849 VAR_047537 p.Asp277Tyr Polymorphism rs17854012 - GRWD1 Q9BQ67 VAR_046334 p.Arg319Gln Polymorphism rs2302951 - GRXCR1 A8MXD5 VAR_063159 p.Glu9Lys Polymorphism rs78136490 - GRXCR1 A8MXD5 VAR_063160 p.Pro38Leu Disease - Deafness autosomal recessive type 25 (DFNB25) [MIM:613285] GRXCR1 A8MXD5 VAR_063161 p.Gly51Glu Polymorphism - - GRXCR1 A8MXD5 VAR_063162 p.Gly64Ser Disease - Deafness autosomal recessive type 25 (DFNB25) [MIM:613285] GRXCR1 A8MXD5 VAR_063163 p.Gly91Val Polymorphism - - GRXCR1 A8MXD5 VAR_063164 p.Arg138Cys Disease - Deafness autosomal recessive type 25 (DFNB25) [MIM:613285] GRXCR1 A8MXD5 VAR_063165 p.Phe153Val Disease - Deafness autosomal recessive type 25 (DFNB25) [MIM:613285] GRXCR2 A6NFK2 VAR_060192 p.Leu181Phe Polymorphism rs2569006 - GSC2 O15499 VAR_008549 p.Arg47Cys Polymorphism rs34341950 - GSDMA Q96QA5 VAR_035010 p.Arg18Gln Polymorphism rs3894194 - GSDMA Q96QA5 VAR_035011 p.Val128Leu Polymorphism rs7212938 - GSDMA Q96QA5 VAR_035012 p.Glu130Lys Polymorphism rs7212944 - GSDMA Q96QA5 VAR_062005 p.Thr314Asn Polymorphism rs56030650 - GSDMB Q8TAX9 VAR_042632 p.Glu122Gly Polymorphism rs12450091 - GSDMB Q8TAX9 VAR_042633 p.Thr132Ala Polymorphism rs4619433 - GSDMB Q8TAX9 VAR_042634 p.Asp245Gly Unclassified - A breast cancer sample GSDMB Q8TAX9 VAR_042635 p.Gly299Arg Polymorphism rs2305479 - GSDMB Q8TAX9 VAR_042636 p.Pro306Ser Polymorphism rs2305480 - GSDMB Q8TAX9 VAR_042637 p.Arg325Cys Polymorphism rs16965388 - GSDMC Q9BYG8 VAR_028138 p.Pro23Ser Polymorphism rs10090835 - GSDMC Q9BYG8 VAR_028139 p.Arg150Lys Polymorphism rs16904151 - GSDMC Q9BYG8 VAR_028140 p.Met475Thr Polymorphism rs4144738 - GSE1 Q14687 VAR_029546 p.Val936Ala Polymorphism rs17853763 - GSE1 Q14687 VAR_029547 p.Arg1153Gln Polymorphism rs2303203 - GSE1 Q14687 VAR_035926 p.Arg627Trp Unclassified - A colorectal cancer sample GSG1 Q2KHT4 VAR_042684 p.Phe39Leu Polymorphism rs2306765 - GSG1 Q2KHT4 VAR_042685 p.Gly67Val Polymorphism rs11546332 - GSG2 Q8TF76 VAR_027405 p.Gly204Asp Polymorphism rs220462 - GSG2 Q8TF76 VAR_027406 p.Ile328Thr Polymorphism rs220461 - GSG2 Q8TF76 VAR_027407 p.Val378Ala Polymorphism rs3809806 - GSG2 Q8TF76 VAR_027408 p.Asn422Asp Polymorphism rs7223226 - GSG2 Q8TF76 VAR_040540 p.Val76Glu Polymorphism rs11653889 - GSG2 Q8TF76 VAR_040541 p.Arg82Cys Polymorphism rs9907144 - GSG2 Q8TF76 VAR_040542 p.Arg145His Polymorphism rs55991903 - GSG2 Q8TF76 VAR_040543 p.Gly283Ser Polymorphism rs56224301 - GSG2 Q8TF76 VAR_040544 p.Gln301Leu Polymorphism rs55649477 - GSG2 Q8TF76 VAR_040545 p.Met706Val Polymorphism rs56134695 - GSK3A P49840 VAR_040539 p.Leu461Phe Polymorphism rs35454502 - GSK3A P49840 VAR_051625 p.Gln109Glu Polymorphism rs35978177 - GSN P06396 VAR_007718 p.Asp214Asn Disease - Amyloidosis type 5 (AMYL5) [MIM:105120] GSN P06396 VAR_007719 p.Asp214Tyr Disease - Amyloidosis type 5 (AMYL5) [MIM:105120] GSN P06396 VAR_024690 p.Ala129Thr Polymorphism rs2230287 - GSN P06396 VAR_033958 p.Arg668Leu Polymorphism rs9696578 - GSN P06396 VAR_036337 p.Ser22Leu Unclassified - A breast cancer sample GSN P06396 VAR_036338 p.Thr201Ile Unclassified - A breast cancer sample GSN P06396 VAR_036339 p.Ser611Asn Unclassified - A breast cancer sample GSN P06396 VAR_061982 p.Asn231Asp Polymorphism rs11550199 - GSPT2 Q8IYD1 VAR_042431 p.Pro23Thr Polymorphism rs17855593 - GSR P00390 VAR_014554 p.Pro314His Polymorphism rs2020916 - GSR P00390 VAR_019079 p.Arg153Cys Polymorphism rs8190955 - GSR P00390 VAR_019080 p.Gly232Ser Polymorphism rs8190976 - GSR P00390 VAR_019081 p.Ile261Val Polymorphism rs8190997 - GSR P00390 VAR_019082 p.Glu297Asp Polymorphism rs8191004 - GSR P00390 VAR_051775 p.Gly232Arg Polymorphism rs8190976 - GSS P48637 VAR_003602 p.Ala26Asp Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003603 p.Leu188Pro Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003604 p.Asp219Ala Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003605 p.Asp219Gly Disease rs28938472 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003606 p.Leu254Arg Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003607 p.Arg267Trp Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003608 p.Tyr270Cys Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003609 p.Tyr270His Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003610 p.Arg283Cys Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003611 p.Leu286Gln Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003612 p.Arg330Cys Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003613 p.Gly464Val Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_003614 p.Asp469Glu Disease - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] GSS P48637 VAR_025047 p.Arg236Gln Polymorphism rs34239729 - GSS P48637 VAR_025048 p.Lys437Glu Polymorphism rs34852238 - GSTA1 P08263 VAR_033978 p.Thr19Ile Polymorphism rs1051578 - GSTA1 P08263 VAR_049482 p.Pro113Gln Polymorphism rs1051745 - GSTA1 P08263 VAR_049483 p.Lys117Gln Polymorphism rs1051757 - GSTA2 P09210 VAR_012205 p.Ser112Thr Polymorphism rs2180314 - GSTA2 P09210 VAR_012206 p.Glu210Ala Polymorphism rs6577 - GSTA2 P09210 VAR_014495 p.Pro110Ser Polymorphism rs2234951 - GSTA2 P09210 VAR_014496 p.Val149Ala Polymorphism rs2266631 - GSTA3 Q16772 VAR_049484 p.Ile71Leu Polymorphism rs1052661 - GSTA3 Q16772 VAR_049485 p.Asn73Asp Polymorphism rs41273858 - GSTA3 Q16772 VAR_062276 p.Gly36Glu Polymorphism - - GSTA3 Q16772 VAR_062277 p.Arg113Gln Polymorphism - - GSTA3 Q16772 VAR_062278 p.Ala208Thr Polymorphism - - GSTA4 O15217 VAR_022210 p.Leu100Pro Polymorphism rs45551133 - GSTA4 O15217 VAR_022211 p.Thr163Ala Polymorphism rs4147617 - GSTA5 Q7RTV2 VAR_024483 p.Val55Ile Polymorphism rs2397118 - GSTM1 P09488 VAR_003617 p.Lys173Asn Polymorphism rs1065411 - GSTM1 P09488 VAR_014497 p.Ser210Thr Polymorphism rs449856 - GSTM2 P28161 VAR_049486 p.Ser173Asn Polymorphism rs2229050 - GSTM3 P21266 VAR_014498 p.Val224Ile Polymorphism rs7483 - GSTM4 Q03013 VAR_033979 p.Ser2Pro Polymorphism rs3211190 - GSTM4 Q03013 VAR_033980 p.Ala160Val Polymorphism rs17838158 - GSTM4 Q03013 VAR_049487 p.Leu208Val Polymorphism rs2229052 - GSTM4 Q03013 VAR_049488 p.Tyr209Phe Polymorphism rs2229053 - GSTM4 Q03013 VAR_049489 p.Arg211Lys Polymorphism rs2229054 - GSTM4 Q03013 VAR_049490 p.Val212Met Polymorphism rs1051113 - GSTM5 P46439 VAR_049491 p.Leu179Pro Polymorphism rs2227963 - GSTM5 P46439 VAR_065098 p.Ala67Thr Polymorphism rs17854972 - GSTO1 P78417 VAR_016811 p.Ala140Asp Polymorphism rs4925 - GSTO1 P78417 VAR_024484 p.Glu208Lys Polymorphism rs11509438 - GSTO1 P78417 VAR_026583 p.Ala236Val Polymorphism rs11509439 - GSTO1 P78417 VAR_029269 p.Ser86Cys Polymorphism rs11509436 - GSTO1 P78417 VAR_061231 p.Cys32Tyr Polymorphism rs45529437 - GSTO2 Q9H4Y5 VAR_016812 p.Asn142Asp Polymorphism rs156697 - GSTO2 Q9H4Y5 VAR_049492 p.Cys130Tyr Polymorphism rs45582439 - GSTP1 P09211 VAR_014499 p.Ile105Val Polymorphism rs1695 - GSTP1 P09211 VAR_014500 p.Ala114Val Polymorphism rs1138272 - GSTP1 P09211 VAR_049493 p.Gly169Asp Polymorphism rs41462048 - GSTT1 P30711 VAR_014501 p.Ala21Thr Polymorphism rs2266635 - GSTT1 P30711 VAR_014502 p.Asp141Asn Polymorphism rs2266633 - GSTT1 P30711 VAR_014503 p.Val169Ile Polymorphism rs2266637 - GSTT1 P30711 VAR_014504 p.Glu173Lys Polymorphism rs2234953 - GSTT2B P0CG30 VAR_033982 p.Met139Ile Polymorphism rs1622002 - GSTZ1 O43708 VAR_009705 p.Lys32Glu Polymorphism rs7975 - GSTZ1 O43708 VAR_009706 p.Arg42Gly Polymorphism rs7972 - GSTZ1 O43708 VAR_009707 p.Met82Thr Polymorphism rs1046428 - GSTZ1 O43708 VAR_014505 p.Asn133His Polymorphism rs2234955 - GSX2 Q9BZM3 VAR_049580 p.Gly107Ser Polymorphism rs13144341 - GTDC1 Q4AE62 VAR_037136 p.Met137Ile Polymorphism rs3731958 - GTF2A1 P52655 VAR_035667 p.Leu30Val Unclassified - A breast cancer sample GTF2A1 P52655 VAR_054043 p.Ala109Pro Polymorphism rs17111579 - GTF2B Q00403 VAR_011977 p.Pro19Ser Polymorphism rs1804499 - GTF2B Q00403 VAR_035722 p.Arg132Gln Unclassified - A colorectal cancer sample GTF2E1 P29083 VAR_020321 p.Pro366Ser Polymorphism rs3732401 - GTF2E2 P29084 VAR_039003 p.Lys183Arg Polymorphism rs2978277 - GTF2E2 P29084 VAR_052281 p.Ile133Thr Polymorphism rs2229299 - GTF2F1 P35269 VAR_039004 p.Ala3Val Polymorphism rs34826931 - GTF2H1 P32780 VAR_014345 p.Arg234Trp Polymorphism rs4150603 - GTF2H1 P32780 VAR_014346 p.Ser285Phe Polymorphism rs4150636 - GTF2H1 P32780 VAR_014347 p.Leu517Val Polymorphism rs4150665 - GTF2H2 Q13888 VAR_011664 p.Ile151Met Polymorphism - - GTF2H2 Q13888 VAR_011665 p.Val236Leu Polymorphism - - GTF2H4 Q92759 VAR_019056 p.Arg337Gln Polymorphism rs3218820 - GTF2H5 Q6ZYL4 VAR_022647 p.Leu21Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675] GTF2I P78347 VAR_051026 p.Leu174Val Polymorphism rs1057896 - GTF2IRD1 Q9UHL9 VAR_013446 p.Met652Val Polymorphism rs2301895 - GTF2IRD2 Q86UP8 VAR_039127 p.His514Asn Polymorphism rs2529318 - GTF3A Q92664 VAR_014824 p.Val245Leu Polymorphism rs7323 - GTF3C1 Q12789 VAR_047534 p.Gln1889Glu Polymorphism rs35233306 - GTF3C1 Q12789 VAR_047535 p.Phe1959Ser Polymorphism rs12919017 - GTF3C1 Q12789 VAR_047536 p.Glu2077Lys Polymorphism rs2228248 - GTF3C3 Q9Y5Q9 VAR_061902 p.Asn70Ser Polymorphism rs11559078 - GTF3C4 Q9UKN8 VAR_047098 p.His243Arg Polymorphism rs1044697 - GTF3C5 Q9Y5Q8 VAR_053727 p.Asp445Asn Polymorphism rs637435 - GTLF3B Q8N6N6 VAR_062227 p.Val42Ile Polymorphism rs12449311 - GTPBP10 A4D1E9 VAR_037543 p.Cys88Trp Polymorphism rs42663 - GTPBP10 A4D1E9 VAR_037544 p.Asn110Ser Polymorphism rs42664 - GTPBP10 A4D1E9 VAR_037545 p.Leu164Phe Polymorphism rs35001814 - GTPBP10 A4D1E9 VAR_037546 p.Met368Ile Polymorphism rs17863999 - GTPBP1 O00178 VAR_049496 p.Gly91Arg Polymorphism rs11547402 - GTPBP3 Q969Y2 VAR_031103 p.Val250Ala Polymorphism rs3810206 - GTPBP3 Q969Y2 VAR_031104 p.Arg368His Polymorphism rs3745193 - GTPBP5 Q9H4K7 VAR_033983 p.Gly47Ser Polymorphism rs6062133 - GTPBP5 Q9H4K7 VAR_049299 p.His93Arg Polymorphism rs11700220 - GTPBP5 Q9H4K7 VAR_049300 p.Ala337Val Polymorphism rs35693261 - GTPBP8 Q8N3Z3 VAR_048934 p.Gln242His Polymorphism rs1054263 - GTSE1 Q9NYZ3 VAR_021973 p.Ser470Leu Polymorphism rs2281192 - GTSE1 Q9NYZ3 VAR_024154 p.Trp506Arg Polymorphism rs140054 - GTSE1 Q9NYZ3 VAR_032816 p.Thr181Ala Polymorphism rs6008600 - GTSE1 Q9NYZ3 VAR_032817 p.Ala200Val Polymorphism rs34404175 - GTSE1 Q9NYZ3 VAR_032818 p.Ala274Thr Polymorphism rs35503220 - GTSE1 Q9NYZ3 VAR_032819 p.Ser322Asn Polymorphism rs6008622 - GTSE1 Q9NYZ3 VAR_032820 p.Asp463Glu Polymorphism rs6008684 - GTSE1 Q9NYZ3 VAR_032821 p.Ala635Thr Polymorphism rs16995138 - GTSE1 Q9NYZ3 VAR_056905 p.Ser303Asn Polymorphism rs6008622 - GTSF1L Q9H1H1 VAR_052549 p.Leu56Val Polymorphism rs17826038 - GUCA1A P43080 VAR_001372 p.Tyr99Cys Disease - Cone dystrophy type 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_010648 p.Pro50Leu Disease - Cone dystrophy type 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_012987 p.Glu155Gly Disease - Cone dystrophy type 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_060802 p.Glu89Lys Disease - Cone dystrophy type 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_060803 p.Asp100Glu Disease - Cone dystrophy type 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_060804 p.Thr114Ile Unclassified - - GUCA1A P43080 VAR_060806 p.Leu151Phe Disease - Cone dystrophy type 3 (COD3) [MIM:602093] GUCA1A P43080 VAR_060807 p.Gly159Val Disease - Cone dystrophy type 3 (COD3) [MIM:602093] GUCA1B Q9UMX6 VAR_009127 p.Glu155Asp Polymorphism - - GUCA1B Q9UMX6 VAR_065355 p.Gly157Arg Disease - Retinitis pigmentosa type 48 (RP48) [MIM:613827] GUCA1C O95843 VAR_055632 p.Val72Ile Polymorphism rs2715687 - GUCA1C O95843 VAR_055633 p.Met85Val Polymorphism rs6804162 - GUCA1C O95843 VAR_055634 p.Ala119Val Polymorphism rs11917716 - GUCA1C O95843 VAR_055635 p.Met159Val Polymorphism rs16854916 - GUCA2A Q02747 VAR_062678 p.Ser7Phe Polymorphism rs2071499 - GUCA2B Q16661 VAR_053362 p.Pro11Thr Polymorphism rs2297567 - GUCY1A2 P33402 VAR_036420 p.Glu681Val Unclassified - A colorectal cancer sample GUCY1A2 P33402 VAR_036421 p.Asn685Thr Unclassified - A colorectal cancer sample GUCY1A3 Q02108 VAR_049257 p.Val25Ile Polymorphism rs2170646 - GUCY1B2 O75343 VAR_022131 p.Asn316His Polymorphism rs1328361 - GUCY1B2 O75343 VAR_024469 p.Tyr55Cys Polymorphism rs9568497 - GUCY1B2 O75343 VAR_024470 p.Met128Ile Polymorphism rs11841997 - GUCY2C P25092 VAR_042221 p.Cys30Arg Polymorphism rs56142849 - GUCY2C P25092 VAR_042222 p.Gly61Arg Unclassified - A metastatic melanoma sample GUCY2C P25092 VAR_042223 p.Arg114Gln Polymorphism rs56275235 - GUCY2C P25092 VAR_042224 p.Arg464Leu Polymorphism rs55684775 - GUCY2C P25092 VAR_042225 p.Glu610Lys Polymorphism rs55897626 - GUCY2C P25092 VAR_042226 p.Ile859Val Polymorphism rs34890806 - GUCY2C P25092 VAR_042227 p.Gln1045Arg Polymorphism rs35617837 - GUCY2C P25092 VAR_042228 p.Tyr1072Cys Polymorphism rs35179392 - GUCY2C P25092 VAR_049253 p.Phe281Leu Polymorphism rs1420635 - GUCY2D Q02846 VAR_003435 p.Ala52Ser Disease - Leber congenital amaurosis type 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_003436 p.Glu837Asp Disease rs28933695 Cone-rod dystrophy type 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_003437 p.Arg838Cys Disease - Cone-rod dystrophy type 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_009129 p.Ala362Ser Disease - Leber congenital amaurosis type 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_009130 p.Ile573Val Disease - Leber congenital amaurosis type 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_009131 p.Phe565Ser Disease - Leber congenital amaurosis type 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_009132 p.Pro701Ser Polymorphism rs34598902 - GUCY2D Q02846 VAR_009133 p.Leu782His Polymorphism rs8069344 - GUCY2D Q02846 VAR_009134 p.Pro858Ser Disease - Leber congenital amaurosis type 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_009135 p.Leu954Pro Disease - Leber congenital amaurosis type 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_015373 p.Arg838His Disease - Cone-rod dystrophy type 6 (CORD6) [MIM:601777] GUCY2D Q02846 VAR_023770 p.Cys105Tyr Disease - Leber congenital amaurosis type 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_023771 p.Leu325Pro Disease - Leber congenital amaurosis type 1 (LCA1) [MIM:204000] GUCY2D Q02846 VAR_042229 p.Ala328Val Polymorphism rs56280231 - GUCY2D Q02846 VAR_042230 p.Gly431Asp Unclassified - A metastatic melanoma sample GUCY2D Q02846 VAR_042231 p.Val507Met Polymorphism - - GUCY2D Q02846 VAR_042232 p.Ala693Glu Polymorphism rs35146471 - GUCY2D Q02846 VAR_049254 p.Arg331Ser Polymorphism rs34596269 - GUCY2D Q02846 VAR_049255 p.Arg602Trp Polymorphism rs34331388 - GUCY2D Q02846 VAR_049256 p.Arg722Trp Polymorphism rs34331388 - GUCY2F P51841 VAR_009136 p.Leu284Pro Polymorphism rs12008095 - GUCY2F P51841 VAR_009137 p.Arg296Gln Polymorphism rs502209 - GUCY2F P51841 VAR_030633 p.Tyr308Cys Polymorphism rs16985750 - GUCY2F P51841 VAR_030634 p.Gln380His Polymorphism rs2272925 - GUCY2F P51841 VAR_030635 p.Arg628Gln Polymorphism rs7883913 - GUCY2F P51841 VAR_036419 p.Arg10Pro Unclassified - A breast cancer sample GUCY2F P51841 VAR_042233 p.Ser40Cys Polymorphism rs34228145 - GUCY2F P51841 VAR_042234 p.Ile160Asn Polymorphism rs33971675 - GUCY2F P51841 VAR_042235 p.Arg230Trp Polymorphism rs33973457 - GUCY2F P51841 VAR_042236 p.Arg305Gln Polymorphism rs55966326 - GUCY2F P51841 VAR_042237 p.Gly434Arg Polymorphism rs56293008 - GUCY2F P51841 VAR_042238 p.Gly568Asp Unclassified - A glioblastoma multiforme sample GUCY2F P51841 VAR_042239 p.Val677Leu Polymorphism rs35474112 - GUCY2F P51841 VAR_042240 p.Glu794Lys Polymorphism rs35726803 - GUCY2F P51841 VAR_042241 p.Ala1010Val Polymorphism rs55735218 - GUCY2F P51841 VAR_042242 p.Lys1052Arg Unclassified - A lung adenocarcinoma sample GUCY2F P51841 VAR_042243 p.Glu1055Asp Unclassified - A lung squamous cell carcinoma sample GUF1 Q8N442 VAR_028895 p.Leu58Pro Polymorphism rs6447368 - GUF1 Q8N442 VAR_028896 p.Thr329Ile Polymorphism rs10470742 - GUSB P08236 VAR_003196 p.Arg216Trp Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003197 p.Ala354Val Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003198 p.Arg382Cys Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003199 p.Arg611Trp Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003200 p.Ala619Val Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_003201 p.Trp627Cys Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_016179 p.Leu649Pro Polymorphism rs9530 - GUSB P08236 VAR_037914 p.Cys38Gly Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037915 p.Ser52Phe Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037916 p.Gly136Arg Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037917 p.Pro148Ser Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037918 p.Glu150Lys Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037919 p.Asp152Asn Unclassified - - GUSB P08236 VAR_037920 p.Leu176Phe Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037921 p.Tyr320Cys Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037922 p.Tyr320Ser Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037923 p.Lys350Asn Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037924 p.His351Tyr Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037925 p.Arg374Cys Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037926 p.Arg382His Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037927 p.Pro408Ser Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037928 p.Pro415Leu Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037929 p.Arg435Pro Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037930 p.Arg477Trp Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037931 p.Tyr495Cys Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037932 p.Tyr508Cys Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037933 p.Gly572Asp Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037934 p.Arg577Leu Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037935 p.Lys606Asn Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_037936 p.Tyr626His Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_055884 p.Leu376Phe Polymorphism rs11559283 - GUSB P08236 VAR_058511 p.Pro30Ser Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058512 p.Asp152Gly Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058513 p.Leu243Pro Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058514 p.Asn339Ser Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058516 p.Asp362Asn Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058517 p.Pro364Leu Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058518 p.Glu540Lys Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GUSB P08236 VAR_058519 p.Gly607Ala Disease - Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] GYG1 P46976 VAR_063768 p.Thr83Met Disease - Glycogen storage disease type 15 (GSD15) [MIM:613507] GYG2 O15488 VAR_010401 p.Ala270Val Polymorphism rs2306734 - GYG2 O15488 VAR_024457 p.His313Arg Polymorphism rs2306735 - GYG2 O15488 VAR_031224 p.Arg373Cys Polymorphism rs17330993 - GYG2 O15488 VAR_053110 p.His7Tyr Polymorphism rs11797037 - GYG2 O15488 VAR_064717 p.Gly194Arg Unclassified - - GYLTL1B Q8N3Y3 VAR_025518 p.Arg677Cys Polymorphism rs2271851 - GYLTL1B Q8N3Y3 VAR_031854 p.Glu37Lys Polymorphism rs17853729 - GYLTL1B Q8N3Y3 VAR_031855 p.Arg546Trp Polymorphism rs11038713 - GYPA P02724 VAR_003190 p.Ser20Leu Polymorphism rs7682260 - GYPA P02724 VAR_003191 p.Gly24Glu Polymorphism rs7687256 - GYPA P02724 VAR_058911 p.Glu13Ala Polymorphism rs4449373 - GYPA P02724 VAR_058912 p.Thr23Asn Polymorphism - - GYPA P02724 VAR_058913 p.Gly24Asp Polymorphism rs7658293 - GYPA P02724 VAR_058914 p.Asp46Glu Polymorphism - - GYPA P02724 VAR_058915 p.Thr47Lys Polymorphism - - GYPA P02724 VAR_058916 p.Thr47Met Polymorphism - - GYPA P02724 VAR_058917 p.Arg50Trp Polymorphism - - GYPA P02724 VAR_058918 p.Ser66Tyr Polymorphism rs56077914 - GYPA P02724 VAR_058919 p.Pro73Ser Polymorphism - - GYPA P02724 VAR_058920 p.Glu76Lys Polymorphism - - GYPA P02724 VAR_058921 p.Thr77Ile Polymorphism rs56172553 - GYPA P02724 VAR_058922 p.Gly78Arg Polymorphism rs1800582 - GYPA P02724 VAR_058923 p.Gln82Lys Polymorphism - - GYPA P02724 VAR_058924 p.Ala84Pro Polymorphism - - GYPA P02724 VAR_059977 p.Glu13Gly Polymorphism rs4449373 - GYPB P06028 VAR_003192 p.Thr48Met Polymorphism rs7683365 - GYPB P06028 VAR_030785 p.Ser84Thr Polymorphism rs1132783 - GYPB P06028 VAR_047948 p.Thr22Ser Polymorphism - - GYPB P06028 VAR_047949 p.Arg54His Polymorphism - - GYPB P06028 VAR_047950 p.Pro58Arg Polymorphism - - GYPC P04921 VAR_003193 p.Asn8Ser Polymorphism - - GYPC P04921 VAR_003194 p.Leu14Phe Polymorphism - - GYPC P04921 VAR_003195 p.Ala23Ser Polymorphism - - GYPC P04921 VAR_021342 p.Lys124Glu Polymorphism rs28370000 - GYPE P15421 VAR_053111 p.Arg78Pro Polymorphism rs17018900 - GYPE P15421 VAR_062006 p.Gly13Glu Polymorphism rs28721877 - GYS1 P13807 VAR_007859 p.Gly464Ser Unclassified - - GYS1 P13807 VAR_014727 p.Lys130Glu Polymorphism rs5456 - GYS1 P13807 VAR_014728 p.Asn283Ser Polymorphism rs5461 - GYS1 P13807 VAR_014729 p.Glu359Gly Polymorphism rs5465 - GYS1 P13807 VAR_014730 p.Met416Val Polymorphism rs5447 - GYS1 P13807 VAR_014731 p.Glu619Gln Polymorphism rs5450 - GYS1 P13807 VAR_014732 p.Pro691Ala Polymorphism rs5453 - GYS1 P13807 VAR_037958 p.Ile108Met Polymorphism rs5455 - GYS2 P54840 VAR_007860 p.Asn39Ser Disease - Glycogen storage disease type 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007861 p.Ala339Pro Disease - Glycogen storage disease type 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007862 p.His446Asp Disease - Glycogen storage disease type 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007863 p.Pro479Gln Disease - Glycogen storage disease type 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007864 p.Ser483Pro Disease - Glycogen storage disease type 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_007865 p.Met491Arg Disease - Glycogen storage disease type 0 (GSD0) [MIM:240600] GYS2 P54840 VAR_055885 p.Ala193Thr Polymorphism rs16924038 - GYS2 P54840 VAR_055886 p.Asp415Glu Polymorphism rs16924002 - GYS2 P54840 VAR_058848 p.Met363Val Polymorphism rs2306180 - GZF1 Q9H116 VAR_024212 p.Gln275Pro Polymorphism rs6048760 - GZF1 Q9H116 VAR_052735 p.Asn190Ser Polymorphism rs3810574 - GZF1 Q9H116 VAR_052736 p.Lys318Asn Polymorphism rs6114068 - GZF1 Q9H116 VAR_052737 p.Asp667Asn Polymorphism rs6048766 - GZF1 Q9H116 VAR_059890 p.Gln275Leu Polymorphism rs6048760 - GZF1 Q9H116 VAR_059891 p.Gln275Arg Polymorphism rs6048760 - GZF1 Q9H116 VAR_064718 p.Ala97Val Unclassified - - GZMA P12544 VAR_024291 p.Met121Thr Polymorphism rs3104233 - GZMB P10144 VAR_018371 p.Arg55Gln Polymorphism rs8192917 - GZMB P10144 VAR_018381 p.Tyr247His Polymorphism rs2236338 - GZMB P10144 VAR_047409 p.Pro94Ala Polymorphism rs11539752 - GZMH P20718 VAR_014556 p.Arg84Gln Polymorphism rs20545 - GZMM P51124 VAR_051829 p.Arg221Gly Polymorphism rs1599882 - H1FNT Q75WM6 VAR_044371 p.Arg84Gly Polymorphism rs2732441 - H1FNT Q75WM6 VAR_044372 p.Leu108Pro Unclassified - - H1FNT Q75WM6 VAR_044373 p.Arg136Ser Unclassified - - H1FNT Q75WM6 VAR_044374 p.Arg174Gln Polymorphism rs1471997 - H1FNT Q75WM6 VAR_044375 p.Ser237Phe Polymorphism rs2291483 - H1FNT Q75WM6 VAR_047359 p.Arg195Gln Polymorphism rs1471997 - H1FOO Q8IZA3 VAR_061208 p.Asn296Ser Polymorphism rs59415528 - H2AFV Q71UI9 VAR_059312 p.Gln125Arg Polymorphism rs1802437 - H2BFM P0C1H6 VAR_049314 p.Arg22His Polymorphism rs578953 - H2BFWT Q7Z2G1 VAR_049315 p.Arg87Trp Polymorphism rs17332043 - H2BFWT Q7Z2G1 VAR_054318 p.Arg123His Polymorphism rs553509 - H6PD O95479 VAR_026487 p.Arg453Gln Polymorphism rs6688832 - H6PD O95479 VAR_049117 p.Asp151Ala Polymorphism rs34603401 - H6PD O95479 VAR_049118 p.Arg218Gln Polymorphism rs35525021 - H6PD O95479 VAR_049119 p.Asn484Asp Polymorphism rs35404275 - H6PD O95479 VAR_049120 p.Pro554Leu Polymorphism rs17368528 - HAAO P46952 VAR_021507 p.Ile37Val Polymorphism rs3816183 - HAAO P46952 VAR_030470 p.Thr42Ser Polymorphism rs3816182 - HABP2 Q14520 VAR_023399 p.Val90Ile Polymorphism rs11575750 - HABP2 Q14520 VAR_023400 p.Glu393Gln Polymorphism rs11575688 - HABP2 Q14520 VAR_023401 p.Gly534Glu Polymorphism rs7080536 - HACE1 Q8IYU2 VAR_031180 p.Arg17His Polymorphism rs17853353 - HACE1 Q8IYU2 VAR_031181 p.Ile374Thr Polymorphism rs17857038 - HADHA P40939 VAR_002273 p.Glu510Gln Disease - Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016] HADHA P40939 VAR_002273 p.Glu510Gln Disease - Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016] HADHA P40939 VAR_021125 p.Val282Asp Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHA P40939 VAR_021126 p.Ile305Asn Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHA P40939 VAR_021127 p.Leu342Pro Disease - Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016] HADHA P40939 VAR_048908 p.Gln358Lys Polymorphism rs10200182 - HADHB P55084 VAR_007493 p.Arg61His Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_007494 p.Arg247His Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_007495 p.Asp263Gly Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_017409 p.Arg444Lys Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021128 p.Gly59Asp Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021129 p.Arg61Cys Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021130 p.Arg117Gly Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021131 p.Leu121Pro Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021132 p.Thr133Pro Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021133 p.Asp242Gly Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021135 p.Gly280Asp Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021136 p.Pro294Leu Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021137 p.Pro294Arg Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_021138 p.Gly301Ser Disease - Trifunctional protein deficiency (TFP deficiency) [MIM:609015] HADHB P55084 VAR_028231 p.Pro209Ser Polymorphism rs17851200 - HADHB P55084 VAR_035705 p.Ala119Val Unclassified - A breast cancer sample HADHB P55084 VAR_061897 p.Lys277Arg Polymorphism rs57969630 - HADH Q16836 VAR_024079 p.Ala40Thr Disease - 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530] HADH Q16836 VAR_024080 p.Asp57Glu Disease - 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530] HADH Q16836 VAR_024081 p.Pro258Leu Disease - Familial hyperinsulinemic hypoglycemia type 4 (HHF4) [MIM:609975] HADH Q16836 VAR_026764 p.Leu86Pro Polymorphism rs4956145 - HADH Q16836 VAR_055701 p.Gln152His Polymorphism rs1051519 - HAL P42357 VAR_006042 p.Val439Ile Polymorphism rs7297245 - HAL P42357 VAR_022915 p.Arg206Thr Disease - Histidinemia (HISTID) [MIM:235800] HAL P42357 VAR_022916 p.Arg208Leu Disease - Histidinemia (HISTID) [MIM:235800] HAL P42357 VAR_022917 p.Pro259Leu Disease - Histidinemia (HISTID) [MIM:235800] HAL P42357 VAR_022918 p.Arg322Pro Disease - Histidinemia (HISTID) [MIM:235800] HAMP P81172 VAR_026648 p.Gly71Asp Disease - Hemochromatosis type 2B (HFE2B) [MIM:613313] HAMP P81172 VAR_042512 p.Arg59Gly Disease - Hemochromatosis type 2B (HFE2B) [MIM:613313] HAMP P81172 VAR_042513 p.Cys70Arg Disease - Hemochromatosis type 2B (HFE2B) [MIM:613313] HAMP P81172 VAR_042514 p.Cys78Tyr Disease - Hemochromatosis type 2B (HFE2B) [MIM:613313] HAO2 Q9NYQ3 VAR_049087 p.Glu15Lys Polymorphism rs34638261 - HAO2 Q9NYQ3 VAR_049088 p.Leu221Met Polymorphism rs6661625 - HAP1 P54257 VAR_046736 p.Lys4Arg Polymorphism rs4796604 - HAP1 P54257 VAR_046737 p.Ser58Thr Polymorphism rs4796603 - HAP1 P54257 VAR_046738 p.Ser357Leu Polymorphism rs4796693 - HAP1 P54257 VAR_046739 p.Arg437Trp Polymorphism - - HAP1 P54257 VAR_046740 p.Met441Thr Unclassified - - HAP1 P54257 VAR_046741 p.Phe483Leu Polymorphism rs8075017 - HAP1 P54257 VAR_046742 p.Ala488Val Polymorphism rs34853043 - HAP1 P54257 VAR_056906 p.Leu408Phe Polymorphism rs35612698 - HAP1 P54257 VAR_056907 p.Thr493Met Polymorphism rs4523977 - HAP1 P54257 VAR_056908 p.Ala557Val Polymorphism rs34853043 - HAP1 P54257 VAR_056909 p.Gly656Arg Polymorphism rs34044330 - HAP1 P54257 VAR_062817 p.Phe560Leu Polymorphism rs8075017 - HAPLN1 P10915 VAR_036168 p.Arg333His Unclassified - A colorectal cancer sample HAPLN1 P10915 VAR_049316 p.Asn281Ser Polymorphism rs6864342 - HARS P12081 VAR_061908 p.Ala399Val Polymorphism rs34732372 - HAS1 Q92839 VAR_047025 p.Cys14Arg Polymorphism rs7248778 - HAS3 O00219 VAR_049317 p.Arg173His Polymorphism rs2232229 - HAT1 O14929 VAR_035997 p.Ala317Pro Unclassified - A colorectal cancer sample HAUS2 Q9NVX0 VAR_050793 p.Thr76Pro Polymorphism rs34678957 - HAUS3 Q68CZ6 VAR_034912 p.Ile586Thr Polymorphism rs11937432 - HAUS5 O94927 VAR_034038 p.Pro213Leu Polymorphism rs2301596 - HAUS5 O94927 VAR_034039 p.Ala277Asp Polymorphism rs2285412 - HAUS6 Q7Z4H7 VAR_024926 p.His674Gln Polymorphism rs10511670 - HAUS6 Q7Z4H7 VAR_024927 p.Ser761Ile Polymorphism rs4977493 - HAUS6 Q7Z4H7 VAR_062243 p.Ser552Thr Polymorphism rs41269003 - HAUS8 Q9BT25 VAR_039056 p.Gly83Arg Polymorphism rs1130222 - HAVCR1 Q96D42 VAR_056080 p.Ser51Leu Polymorphism rs2270922 - HAVCR2 Q8TDQ0 VAR_025342 p.Arg140Leu Polymorphism rs1036199 - HAX1 O00165 VAR_062258 p.Pro49Ser Polymorphism rs11556344 - HAX1 O00165 VAR_062259 p.Phe141Leu Disease rs179363870 Neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738] HAX1 O00165 VAR_062260 p.Ser151Gly Polymorphism rs17851425 - HAX1 O00165 VAR_062261 p.Ser278Pro Polymorphism rs1804715 - HAX1 O00165 VAR_064514 p.Leu130Arg Disease rs179363871 Neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738] HAX1 O00165 VAR_064515 p.Val172Ile Disease rs141970914 Neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738] HBA1 P69905 VAR_002719 p.Val2Glu Unclassified - - HBA1 P69905 VAR_002720 p.Leu3Arg Polymorphism rs36030576 - HBA1 P69905 VAR_002721 p.Ala6Asp Polymorphism rs34090856 - HBA1 P69905 VAR_002722 p.Ala6Pro Polymorphism rs34751764 - HBA1 P69905 VAR_002723 p.Asp7Ala Polymorphism rs33986902 - HBA1 P69905 VAR_002724 p.Asp7Gly Unclassified - - HBA1 P69905 VAR_002725 p.Asp7Asn Polymorphism rs33961916 - HBA1 P69905 VAR_002726 p.Asp7Val Unclassified - - HBA1 P69905 VAR_002727 p.Asp7Tyr Unclassified - - HBA1 P69905 VAR_002728 p.Lys8Glu Polymorphism rs34817956 - HBA1 P69905 VAR_002729 p.Lys12Glu Unclassified - - HBA1 P69905 VAR_002730 p.Ala13Asp Polymorphism rs35615982 - HBA1 P69905 VAR_002731 p.Trp15Arg Polymorphism rs33964317 - HBA1 P69905 VAR_002732 p.Gly16Arg Polymorphism rs35816645 - HBA1 P69905 VAR_002733 p.Lys17Met Polymorphism rs35210126 - HBA1 P69905 VAR_002734 p.Lys17Asn Polymorphism rs33923844 - HBA1 P69905 VAR_002735 p.Gly19Asp Polymorphism rs35993097 - HBA1 P69905 VAR_002736 p.Gly19Arg Polymorphism rs34504387 - HBA1 P69905 VAR_002737 p.Ala20Asp Unclassified - - HBA1 P69905 VAR_002738 p.Ala20Glu Polymorphism rs35628685 - HBA1 P69905 VAR_002739 p.His21Gln Polymorphism rs41525149 - HBA1 P69905 VAR_002740 p.His21Arg Polymorphism rs33943087 - HBA1 P69905 VAR_002741 p.Ala22Asp Polymorphism rs11548605 - HBA1 P69905 VAR_002742 p.Ala22Pro Polymorphism rs34324664 - HBA1 P69905 VAR_002743 p.Gly23Asp Polymorphism rs34608326 - HBA1 P69905 VAR_002744 p.Glu24Gly Polymorphism rs33939421 - HBA1 P69905 VAR_002745 p.Glu24Lys Unclassified - - HBA1 P69905 VAR_002746 p.Tyr25His Unclassified - - HBA1 P69905 VAR_002747 p.Ala27Glu Unclassified - - HBA1 P69905 VAR_002748 p.Glu28Asp Unclassified - - HBA1 P69905 VAR_002749 p.Glu28Gly Unclassified - - HBA1 P69905 VAR_002750 p.Glu28Val Unclassified - - HBA1 P69905 VAR_002751 p.Glu31Lys Unclassified - - HBA1 P69905 VAR_002752 p.Arg32Ser Unclassified - - HBA1 P69905 VAR_002753 p.Leu35Arg Unclassified - - HBA1 P69905 VAR_002754 p.Pro38Arg Unclassified - - HBA1 P69905 VAR_002756 p.Lys41Met Unclassified - - HBA1 P69905 VAR_002757 p.Thr42Ser Unclassified - - HBA1 P69905 VAR_002758 p.Phe44Leu Unclassified - - HBA1 P69905 VAR_002759 p.Pro45Leu Polymorphism rs41514946 - HBA1 P69905 VAR_002760 p.Pro45Arg Unclassified - - HBA1 P69905 VAR_002761 p.His46Gln Unclassified - - HBA1 P69905 VAR_002762 p.His46Arg Unclassified - - HBA1 P69905 VAR_002763 p.Asp48Ala Unclassified - - HBA1 P69905 VAR_002764 p.Asp48Gly Unclassified - - HBA1 P69905 VAR_002765 p.Asp48His Unclassified - - HBA1 P69905 VAR_002766 p.Asp48Tyr Unclassified - - HBA1 P69905 VAR_002767 p.Leu49Arg Unclassified - - HBA1 P69905 VAR_002768 p.Ser50Arg Unclassified - - HBA1 P69905 VAR_002769 p.His51Arg Unclassified - - HBA1 P69905 VAR_002770 p.Gly52Asp Unclassified - - HBA1 P69905 VAR_002771 p.Gly52Arg Unclassified - - HBA1 P69905 VAR_002772 p.Ala54Asp Unclassified - - HBA1 P69905 VAR_002773 p.Gln55Arg Unclassified - - HBA1 P69905 VAR_002774 p.Lys57Arg Unclassified - - HBA1 P69905 VAR_002775 p.Lys57Thr Unclassified - - HBA1 P69905 VAR_002776 p.Gly58Arg Unclassified - - HBA1 P69905 VAR_002777 p.His59Tyr Unclassified - - HBA1 P69905 VAR_002778 p.Gly60Asp Polymorphism rs28928878 - HBA1 P69905 VAR_002779 p.Gly60Val Unclassified - - HBA1 P69905 VAR_002780 p.Lys61Asn Polymorphism rs28928887 - HBA1 P69905 VAR_002782 p.Lys62Asn Unclassified - - HBA1 P69905 VAR_002783 p.Lys62Thr Unclassified - - HBA1 P69905 VAR_002784 p.Val63Met Unclassified - - HBA1 P69905 VAR_002785 p.Ala64Asp Unclassified - - HBA1 P69905 VAR_002786 p.Asp65Tyr Unclassified - - HBA1 P69905 VAR_002787 p.Asn69Lys Polymorphism rs1060339 - HBA1 P69905 VAR_002788 p.Ala72Glu Unclassified - - HBA1 P69905 VAR_002789 p.Ala72Val Unclassified - - HBA1 P69905 VAR_002790 p.His73Arg Unclassified - - HBA1 P69905 VAR_002791 p.Asp75Ala Unclassified - - HBA1 P69905 VAR_002792 p.Asp75Gly Unclassified - - HBA1 P69905 VAR_002793 p.Asp75Asn Unclassified - - HBA1 P69905 VAR_002794 p.Asp76Ala Unclassified - - HBA1 P69905 VAR_002795 p.Asp76His Unclassified - - HBA1 P69905 VAR_002796 p.Met77Lys Unclassified - - HBA1 P69905 VAR_002797 p.Met77Thr Unclassified - - HBA1 P69905 VAR_002798 p.Pro78Arg Unclassified - - HBA1 P69905 VAR_002799 p.Asn79His Unclassified - - HBA1 P69905 VAR_002800 p.Asn79Lys Unclassified - - HBA1 P69905 VAR_002801 p.Leu81Arg Unclassified - - HBA1 P69905 VAR_002802 p.Ser82Cys Unclassified - - HBA1 P69905 VAR_002803 p.Ala83Asp Unclassified - - HBA1 P69905 VAR_002804 p.Ser85Arg Unclassified - - HBA1 P69905 VAR_002805 p.Asp86Val Unclassified - - HBA1 P69905 VAR_002806 p.Asp86Tyr Unclassified - - HBA1 P69905 VAR_002807 p.Leu87Arg Unclassified - - HBA1 P69905 VAR_002808 p.His88Asn Unclassified - - HBA1 P69905 VAR_002809 p.His88Arg Unclassified - - HBA1 P69905 VAR_002810 p.Ala89Ser Unclassified - - HBA1 P69905 VAR_002811 p.Lys91Met Unclassified - - HBA1 P69905 VAR_002812 p.Leu92Pro Polymorphism rs17407508 - HBA1 P69905 VAR_002813 p.Arg93Gln Unclassified - - HBA1 P69905 VAR_002814 p.Asp95Tyr Unclassified - - HBA1 P69905 VAR_002815 p.Pro96Ala Unclassified - - HBA1 P69905 VAR_002816 p.Pro96Thr Unclassified - - HBA1 P69905 VAR_002817 p.Asn98Lys Unclassified - - HBA1 P69905 VAR_002818 p.Lys100Glu Unclassified - - HBA1 P69905 VAR_002819 p.Ser103Arg Polymorphism rs41344646 - HBA1 P69905 VAR_002820 p.His104Arg Unclassified - - HBA1 P69905 VAR_002821 p.Leu110Arg Unclassified - - HBA1 P69905 VAR_002822 p.Ala111Asp Unclassified - - HBA1 P69905 VAR_002823 p.His113Asp Unclassified - - HBA1 P69905 VAR_002824 p.Leu114His Unclassified - - HBA1 P69905 VAR_002825 p.Pro115Leu Unclassified - - HBA1 P69905 VAR_002826 p.Pro115Arg Unclassified - - HBA1 P69905 VAR_002827 p.Pro115Ser Unclassified - - HBA1 P69905 VAR_002828 p.Ala116Asp Unclassified - - HBA1 P69905 VAR_002829 p.Glu117Ala Unclassified - - HBA1 P69905 VAR_002833 p.Ala121Glu Unclassified - - HBA1 P69905 VAR_002834 p.Val122Met Unclassified - - HBA1 P69905 VAR_002835 p.His123Gln Unclassified - - HBA1 P69905 VAR_002836 p.Leu126Pro Unclassified - - HBA1 P69905 VAR_002837 p.Asp127Val Unclassified - - HBA1 P69905 VAR_002838 p.Asp127Tyr Unclassified - - HBA1 P69905 VAR_002839 p.Lys128Asn Unclassified - - HBA1 P69905 VAR_002840 p.Leu130Pro Unclassified - - HBA1 P69905 VAR_002841 p.Ala131Pro Unclassified - - HBA1 P69905 VAR_002842 p.Ala131Asp Unclassified - - HBA1 P69905 VAR_002843 p.Ser132Pro Unclassified - - HBA1 P69905 VAR_002844 p.Ser134Arg Unclassified - - HBA1 P69905 VAR_002845 p.Val136Glu Unclassified - - HBA1 P69905 VAR_002846 p.Leu137Met Unclassified - - HBA1 P69905 VAR_002847 p.Leu137Pro Unclassified - - HBA1 P69905 VAR_002848 p.Ser139Pro Unclassified - - HBA1 P69905 VAR_002849 p.Lys140Glu Unclassified - - HBA1 P69905 VAR_002850 p.Lys140Thr Unclassified - - HBA1 P69905 VAR_002851 p.Tyr141His Unclassified - - HBA1 P69905 VAR_002852 p.Arg142Cys Unclassified - - HBA1 P69905 VAR_002853 p.Arg142Leu Unclassified - - HBA1 P69905 VAR_002854 p.Arg142His Unclassified - - HBA1 P69905 VAR_002855 p.Arg142Pro Unclassified - - HBA1 P69905 VAR_012662 p.Ala80Gly Unclassified - - HBA1 P69905 VAR_014605 p.Val11Phe Polymorphism rs1799896 - HBA1 P69905 VAR_020775 p.Arg93Trp Unclassified - - HBA1 P69905 VAR_025002 p.Arg32Lys Unclassified - - HBA1 P69905 VAR_025387 p.Ala27Val Unclassified - - HBA1 P69905 VAR_025388 p.His59Gln Unclassified - - HBA1 P69905 VAR_025389 p.Asp95Ala Unclassified - - HBA1 P69905 VAR_025390 p.His104Tyr Unclassified - - HBA1 P69905 VAR_025391 p.Leu126Arg Unclassified - - HBA1 P69905 VAR_025392 p.Asp127Gly Unclassified - - HBA1 P69905 VAR_035242 p.Leu137Arg Unclassified - - HBA1 P69905 VAR_038149 p.Asn10Thr Unclassified - - HBA1 P69905 VAR_038150 p.Ala14Pro Polymorphism rs35331909 - HBA1 P69905 VAR_049272 p.Leu92Phe Polymorphism rs17407508 - HBB P68871 VAR_002856 p.Val2Ala Polymorphism rs33949930 - HBB P68871 VAR_002857 p.His3Leu Polymorphism rs35906307 - HBB P68871 VAR_002858 p.His3Gln Polymorphism rs713040 - HBB P68871 VAR_002859 p.His3Arg Polymorphism rs33983205 - HBB P68871 VAR_002860 p.His3Tyr Polymorphism rs35906307 - HBB P68871 VAR_002861 p.Pro6Arg Polymorphism rs34769005 - HBB P68871 VAR_002862 p.Glu7Ala Unclassified - - HBB P68871 VAR_002863 p.Glu7Val Polymorphism rs334 - HBB P68871 VAR_002864 p.Glu7Lys Unclassified - - HBB P68871 VAR_002865 p.Glu7Gln Polymorphism rs33930165 - HBB P68871 VAR_002866 p.Glu8Gly Polymorphism rs34948328 - HBB P68871 VAR_002867 p.Glu8Lys Polymorphism rs34948328 - HBB P68871 VAR_002868 p.Lys9Glu Polymorphism rs33932981 - HBB P68871 VAR_002869 p.Lys9Gln Polymorphism rs33926764 - HBB P68871 VAR_002870 p.Lys9Thr Unclassified - - HBB P68871 VAR_002871 p.Ser10Cys Polymorphism rs33918131 - HBB P68871 VAR_002872 p.Ala11Asp Polymorphism rs33947457 - HBB P68871 VAR_002873 p.Val12Asp Polymorphism rs33974228 - HBB P68871 VAR_002874 p.Val12Ile Unclassified - - HBB P68871 VAR_002875 p.Ala14Asp Polymorphism rs35203747 - HBB P68871 VAR_002876 p.Leu15Pro Unclassified - - HBB P68871 VAR_002877 p.Leu15Arg Polymorphism rs33935445 - HBB P68871 VAR_002878 p.Trp16Gly Polymorphism rs33946157 - HBB P68871 VAR_002879 p.Trp16Arg Polymorphism rs33946157 - HBB P68871 VAR_002880 p.Gly17Asp Unclassified - - HBB P68871 VAR_002881 p.Gly17Arg Unclassified - - HBB P68871 VAR_002882 p.Lys18Glu Polymorphism rs33986703 - HBB P68871 VAR_002883 p.Lys18Asn Polymorphism rs36006214 - HBB P68871 VAR_002884 p.Lys18Gln Polymorphism rs33986703 - HBB P68871 VAR_002885 p.Val19Met Polymorphism rs35802118 - HBB P68871 VAR_002886 p.Asn20Asp Polymorphism rs34866629 - HBB P68871 VAR_002887 p.Asn20Lys Unclassified - - HBB P68871 VAR_002888 p.Asn20Ser Polymorphism rs33972047 - HBB P68871 VAR_002889 p.Val21Met Polymorphism rs35890959 - HBB P68871 VAR_002890 p.Asp22Gly Polymorphism rs33977536 - HBB P68871 VAR_002891 p.Asp22Asn Unclassified - - HBB P68871 VAR_002892 p.Asp22His Polymorphism rs33950093 - HBB P68871 VAR_002893 p.Asp22Tyr Unclassified - - HBB P68871 VAR_002894 p.Glu23Ala Polymorphism rs33936254 - HBB P68871 VAR_002895 p.Glu23Gly Unclassified - - HBB P68871 VAR_002896 p.Glu23Lys Unclassified - - HBB P68871 VAR_002897 p.Glu23Gln Unclassified - - HBB P68871 VAR_002898 p.Glu23Val Unclassified - - HBB P68871 VAR_002899 p.Val24Asp Unclassified - - HBB P68871 VAR_002900 p.Val24Phe Unclassified - - HBB P68871 VAR_002901 p.Val24Gly Unclassified - - HBB P68871 VAR_002902 p.Gly25Asp Unclassified - - HBB P68871 VAR_002903 p.Gly25Arg Unclassified - - HBB P68871 VAR_002904 p.Gly25Val Unclassified - - HBB P68871 VAR_002905 p.Gly26Asp Unclassified - - HBB P68871 VAR_002906 p.Gly26Arg Unclassified - - HBB P68871 VAR_002907 p.Glu27Lys Unclassified - - HBB P68871 VAR_002908 p.Glu27Val Unclassified - - HBB P68871 VAR_002909 p.Ala28Asp Unclassified - - HBB P68871 VAR_002910 p.Ala28Ser Unclassified - - HBB P68871 VAR_002911 p.Ala28Val Unclassified - - HBB P68871 VAR_002912 p.Leu29Pro Unclassified - - HBB P68871 VAR_002913 p.Gly30Asp Unclassified - - HBB P68871 VAR_002914 p.Arg31Ser Unclassified - - HBB P68871 VAR_002915 p.Leu32Pro Unclassified - - HBB P68871 VAR_002916 p.Leu33Arg Unclassified - - HBB P68871 VAR_002917 p.Leu33Val Unclassified - - HBB P68871 VAR_002918 p.Val35Phe Unclassified - - HBB P68871 VAR_002919 p.Tyr36Phe Unclassified - - HBB P68871 VAR_002920 p.Pro37Arg Unclassified - - HBB P68871 VAR_002921 p.Pro37Ser Unclassified - - HBB P68871 VAR_002922 p.Pro37Thr Unclassified - - HBB P68871 VAR_002923 p.Trp38Gly Unclassified - - HBB P68871 VAR_002924 p.Trp38Ser Unclassified - - HBB P68871 VAR_002925 p.Trp38Arg Unclassified - - HBB P68871 VAR_002926 p.Thr39Asn Unclassified - - HBB P68871 VAR_002927 p.Gln40Glu Unclassified - - HBB P68871 VAR_002928 p.Gln40Lys Unclassified - - HBB P68871 VAR_002929 p.Gln40Arg Unclassified - - HBB P68871 VAR_002930 p.Phe42Tyr Unclassified - - HBB P68871 VAR_002931 p.Phe43Leu Unclassified - - HBB P68871 VAR_002932 p.Glu44Gln Unclassified - - HBB P68871 VAR_002933 p.Ser45Cys Unclassified - - HBB P68871 VAR_002934 p.Phe46Ser Unclassified - - HBB P68871 VAR_002935 p.Gly47Glu Unclassified - - HBB P68871 VAR_002936 p.Asp48Ala Unclassified - - HBB P68871 VAR_002937 p.Asp48Gly Unclassified - - HBB P68871 VAR_002938 p.Asp48Tyr Unclassified - - HBB P68871 VAR_002939 p.Leu49Pro Unclassified - - HBB P68871 VAR_002940 p.Ser50Phe Unclassified - - HBB P68871 VAR_002941 p.Thr51Lys Unclassified - - HBB P68871 VAR_002942 p.Pro52Arg Unclassified - - HBB P68871 VAR_002943 p.Asp53Ala Unclassified - - HBB P68871 VAR_002944 p.Asp53His Unclassified - - HBB P68871 VAR_002945 p.Val55Asp Unclassified - - HBB P68871 VAR_002946 p.Met56Lys Unclassified - - HBB P68871 VAR_002947 p.Gly57Arg Unclassified - - HBB P68871 VAR_002948 p.Asn58Lys Unclassified - - HBB P68871 VAR_002949 p.Pro59Arg Unclassified - - HBB P68871 VAR_002950 p.Lys60Glu Unclassified - - HBB P68871 VAR_002951 p.Val61Ala Unclassified - - HBB P68871 VAR_002952 p.Lys62Glu Unclassified - - HBB P68871 VAR_002953 p.Lys62Met Unclassified - - HBB P68871 VAR_002954 p.Lys62Asn Unclassified - - HBB P68871 VAR_002955 p.Ala63Asp Unclassified - - HBB P68871 VAR_002956 p.Ala63Pro Unclassified - - HBB P68871 VAR_002957 p.His64Tyr Unclassified - - HBB P68871 VAR_002958 p.Lys66Met Unclassified - - HBB P68871 VAR_002959 p.Lys66Asn Unclassified - - HBB P68871 VAR_002960 p.Lys66Gln Unclassified - - HBB P68871 VAR_002961 p.Lys67Thr Unclassified - - HBB P68871 VAR_002962 p.Val68Ala Unclassified - - HBB P68871 VAR_002963 p.Val68Met Unclassified - - HBB P68871 VAR_002964 p.Leu69His Unclassified - - HBB P68871 VAR_002965 p.Leu69Pro Unclassified - - HBB P68871 VAR_002966 p.Gly70Asp Unclassified - - HBB P68871 VAR_002967 p.Gly70Arg Unclassified - - HBB P68871 VAR_002968 p.Gly70Ser Unclassified - - HBB P68871 VAR_002969 p.Ala71Asp Unclassified - - HBB P68871 VAR_002970 p.Phe72Ser Unclassified - - HBB P68871 VAR_002971 p.Asp74Gly Unclassified - - HBB P68871 VAR_002972 p.Asp74Val Unclassified - - HBB P68871 VAR_002973 p.Asp74Tyr Unclassified - - HBB P68871 VAR_002974 p.Gly75Arg Unclassified - - HBB P68871 VAR_002975 p.Gly75Val Unclassified - - HBB P68871 VAR_002976 p.Leu76Pro Unclassified - - HBB P68871 VAR_002977 p.Leu76Arg Unclassified - - HBB P68871 VAR_002978 p.Ala77Asp Unclassified - - HBB P68871 VAR_002979 p.His78Asp Unclassified - - HBB P68871 VAR_002980 p.His78Arg Unclassified - - HBB P68871 VAR_002981 p.His78Tyr Unclassified - - HBB P68871 VAR_002982 p.Leu79Arg Unclassified - - HBB P68871 VAR_002983 p.Asp80Tyr Unclassified - - HBB P68871 VAR_002984 p.Asn81Lys Unclassified - - HBB P68871 VAR_002985 p.Leu82Arg Unclassified - - HBB P68871 VAR_002986 p.Lys83Met Unclassified - - HBB P68871 VAR_002987 p.Gly84Arg Unclassified - - HBB P68871 VAR_002988 p.Thr85Ile Unclassified - - HBB P68871 VAR_002989 p.Ala87Asp Unclassified - - HBB P68871 VAR_002990 p.Thr88Ile Unclassified - - HBB P68871 VAR_002991 p.Thr88Lys Unclassified - - HBB P68871 VAR_002992 p.Thr88Pro Unclassified - - HBB P68871 VAR_002993 p.Leu89Pro Unclassified - - HBB P68871 VAR_002994 p.Leu89Arg Unclassified - - HBB P68871 VAR_002995 p.Ser90Asn Unclassified - - HBB P68871 VAR_002996 p.Ser90Arg Unclassified - - HBB P68871 VAR_002997 p.Glu91Asp Unclassified - - HBB P68871 VAR_002998 p.Glu91Lys Unclassified - - HBB P68871 VAR_002999 p.Leu92Pro Unclassified - - HBB P68871 VAR_003000 p.Leu92Arg Unclassified - - HBB P68871 VAR_003001 p.His93Asp Unclassified - - HBB P68871 VAR_003002 p.His93Asn Unclassified - - HBB P68871 VAR_003003 p.His93Pro Unclassified - - HBB P68871 VAR_003004 p.His93Gln Unclassified - - HBB P68871 VAR_003005 p.Cys94Arg Unclassified - - HBB P68871 VAR_003006 p.Asp95Gly Unclassified - - HBB P68871 VAR_003007 p.Asp95His Unclassified - - HBB P68871 VAR_003008 p.Asp95Asn Unclassified - - HBB P68871 VAR_003009 p.Lys96Met Unclassified - - HBB P68871 VAR_003010 p.Lys96Asn Unclassified - - HBB P68871 VAR_003011 p.Leu97Pro Unclassified - - HBB P68871 VAR_003012 p.Leu97Val Unclassified - - HBB P68871 VAR_003013 p.His98Leu Unclassified - - HBB P68871 VAR_003014 p.His98Pro Unclassified - - HBB P68871 VAR_003015 p.His98Gln Unclassified - - HBB P68871 VAR_003016 p.His98Tyr Unclassified - - HBB P68871 VAR_003017 p.Val99Gly Unclassified - - HBB P68871 VAR_003018 p.Asp100Glu Unclassified - - HBB P68871 VAR_003019 p.Pro101Leu Unclassified - - HBB P68871 VAR_003020 p.Pro101Arg Unclassified - - HBB P68871 VAR_003021 p.Glu102Asp Unclassified - - HBB P68871 VAR_003022 p.Glu102Gly Unclassified - - HBB P68871 VAR_003023 p.Glu102Lys Unclassified - - HBB P68871 VAR_003024 p.Glu102Gln Unclassified - - HBB P68871 VAR_003025 p.Asn103Ser Unclassified - - HBB P68871 VAR_003026 p.Asn103Tyr Unclassified - - HBB P68871 VAR_003027 p.Phe104Leu Unclassified - - HBB P68871 VAR_003028 p.Arg105Ser Unclassified - - HBB P68871 VAR_003029 p.Arg105Thr Unclassified - - HBB P68871 VAR_003030 p.Gly108Arg Unclassified - - HBB P68871 VAR_003031 p.Asn109Lys Unclassified - - HBB P68871 VAR_003032 p.Val110Met Unclassified - - HBB P68871 VAR_003033 p.Leu111Pro Unclassified - - HBB P68871 VAR_003034 p.Val112Ala Unclassified - - HBB P68871 VAR_003035 p.Cys113Arg Unclassified - - HBB P68871 VAR_003036 p.Cys113Tyr Unclassified - - HBB P68871 VAR_003037 p.Ala116Asp Unclassified - - HBB P68871 VAR_003038 p.Ala116Pro Unclassified - - HBB P68871 VAR_003039 p.His117Gln Unclassified - - HBB P68871 VAR_003040 p.His118Pro Unclassified - - HBB P68871 VAR_003041 p.His118Arg Unclassified - - HBB P68871 VAR_003042 p.Gly120Ala Unclassified - - HBB P68871 VAR_003043 p.Lys121Glu Unclassified - - HBB P68871 VAR_003044 p.Lys121Ile Unclassified - - HBB P68871 VAR_003045 p.Lys121Gln Unclassified - - HBB P68871 VAR_003046 p.Glu122Ala Unclassified - - HBB P68871 VAR_003047 p.Glu122Gly Unclassified - - HBB P68871 VAR_003048 p.Glu122Gln Unclassified - - HBB P68871 VAR_003049 p.Glu122Lys Unclassified - - HBB P68871 VAR_003050 p.Glu122Val Unclassified - - HBB P68871 VAR_003051 p.Thr124Ile Unclassified - - HBB P68871 VAR_003052 p.Pro125Arg Unclassified - - HBB P68871 VAR_003053 p.Pro125Gln Unclassified - - HBB P68871 VAR_003054 p.Pro125Ser Unclassified - - HBB P68871 VAR_003055 p.Val127Ala Unclassified - - HBB P68871 VAR_003056 p.Val127Gly Unclassified - - HBB P68871 VAR_003057 p.Val127Glu Unclassified - - HBB P68871 VAR_003058 p.Gln128Glu Unclassified - - HBB P68871 VAR_003059 p.Gln128Lys Unclassified - - HBB P68871 VAR_003060 p.Ala129Asp Unclassified - - HBB P68871 VAR_003061 p.Ala130Pro Unclassified - - HBB P68871 VAR_003062 p.Ala130Val Unclassified - - HBB P68871 VAR_003063 p.Tyr131Asp Unclassified - - HBB P68871 VAR_003064 p.Tyr131Ser Unclassified - - HBB P68871 VAR_003065 p.Gln132Glu Unclassified - - HBB P68871 VAR_003066 p.Gln132Lys Unclassified - - HBB P68871 VAR_003067 p.Gln132Pro Unclassified - - HBB P68871 VAR_003068 p.Gln132Arg Unclassified - - HBB P68871 VAR_003069 p.Lys133Asn Unclassified - - HBB P68871 VAR_003070 p.Lys133Gln Unclassified - - HBB P68871 VAR_003071 p.Val134Leu Unclassified - - HBB P68871 VAR_003072 p.Val135Glu Unclassified - - HBB P68871 VAR_003073 p.Ala136Glu Unclassified - - HBB P68871 VAR_003074 p.Ala136Pro Unclassified - - HBB P68871 VAR_003075 p.Gly137Asp Unclassified - - HBB P68871 VAR_003076 p.Ala139Pro Unclassified - - HBB P68871 VAR_003077 p.Asn140Asp Unclassified - - HBB P68871 VAR_003078 p.Asn140Lys Unclassified - - HBB P68871 VAR_003079 p.Asn140Tyr Unclassified - - HBB P68871 VAR_003080 p.Ala141Asp Unclassified - - HBB P68871 VAR_003081 p.Ala141Thr Unclassified - - HBB P68871 VAR_003082 p.Ala141Val Unclassified - - HBB P68871 VAR_003083 p.Leu142Arg Unclassified - - HBB P68871 VAR_003084 p.Ala143Asp Unclassified - - HBB P68871 VAR_003085 p.His144Asp Unclassified - - HBB P68871 VAR_003086 p.His144Gln Unclassified - - HBB P68871 VAR_003087 p.His144Pro Unclassified - - HBB P68871 VAR_003088 p.His144Arg Unclassified - - HBB P68871 VAR_003089 p.Lys145Glu Unclassified - - HBB P68871 VAR_003090 p.Tyr146Cys Unclassified - - HBB P68871 VAR_003091 p.Tyr146His Unclassified - - HBB P68871 VAR_003092 p.His147Asp Unclassified - - HBB P68871 VAR_003093 p.His147Leu Unclassified - - HBB P68871 VAR_003094 p.His147Pro Unclassified - - HBB P68871 VAR_003095 p.His147Gln Unclassified - - HBB P68871 VAR_010144 p.Leu115Met Unclassified - - HBB P68871 VAR_010145 p.Leu115Pro Unclassified - - HBB P68871 VAR_012663 p.Leu82His Unclassified - - HBB P68871 VAR_012664 p.Lys83Asn Unclassified - - HBB P68871 VAR_025335 p.Asn140Ser Unclassified - - HBB P68871 VAR_025393 p.Ala11Val Unclassified - - HBB P68871 VAR_025394 p.Val35Asp Unclassified - - HBB P68871 VAR_025395 p.Val35Leu Unclassified - - HBB P68871 VAR_025396 p.Gly84Asp Unclassified - - HBB P68871 VAR_025397 p.Cys113Phe Unclassified - - HBB P68871 VAR_025398 p.His117Leu Unclassified - - HBB P68871 VAR_025399 p.His118Tyr Unclassified - - HBB P68871 VAR_035236 p.Leu29Gln Unclassified - - HBB P68871 VAR_035239 p.Phe43Ser Unclassified - - HBB P68871 VAR_035240 p.Val68Asp Unclassified - - HBB P68871 VAR_040060 p.Val68Gly Polymorphism rs33918343 - HBB P68871 VAR_049273 p.Leu82Val Polymorphism rs11549406 - HBD P02042 VAR_003096 p.Val2Ala Polymorphism rs34991152 - HBD P02042 VAR_003097 p.His3Arg Polymorphism rs35433207 - HBD P02042 VAR_003098 p.Asn13Lys Polymorphism rs34313675 - HBD P02042 VAR_003099 p.Gly17Arg Polymorphism rs34012192 - HBD P02042 VAR_003100 p.Val21Glu Polymorphism rs34093840 - HBD P02042 VAR_003101 p.Ala23Glu Polymorphism rs35395083 - HBD P02042 VAR_003102 p.Gly25Asp Polymorphism rs34460332 - HBD P02042 VAR_003103 p.Gly26Asp Polymorphism rs34389944 - HBD P02042 VAR_003104 p.Glu27Asp Polymorphism rs34289459 - HBD P02042 VAR_003105 p.Ala28Ser Polymorphism rs35152987 - HBD P02042 VAR_003106 p.Glu44Gly Polymorphism rs36084266 - HBD P02042 VAR_003107 p.Glu44Lys Polymorphism rs35166721 - HBD P02042 VAR_003108 p.Asp48Val Polymorphism rs34977235 - HBD P02042 VAR_003109 p.Pro52Arg Polymorphism rs34489183 - HBD P02042 VAR_003110 p.Gly70Arg Polymorphism rs35913713 - HBD P02042 VAR_003111 p.Leu76Val Polymorphism rs34430836 - HBD P02042 VAR_003112 p.Glu91Val Polymorphism rs34420481 - HBD P02042 VAR_003113 p.Val99Met Polymorphism rs28933076 - HBD P02042 VAR_003114 p.Asp100Asn Polymorphism rs35329985 - HBD P02042 VAR_003115 p.Arg117Cys Polymorphism rs33971270 - HBD P02042 VAR_003116 p.Arg117His Polymorphism rs34536353 - HBD P02042 VAR_003117 p.Asn118Asp Polymorphism rs36049174 - HBD P02042 VAR_003118 p.Glu122Val Polymorphism rs35790721 - HBD P02042 VAR_003119 p.Gln126Glu Polymorphism rs36078803 - HBD P02042 VAR_003120 p.Gly137Asp Unclassified - - HBD P02042 VAR_003121 p.Leu142Pro Unclassified - - HBD P02042 VAR_003122 p.Ala143Asp Unclassified - - HBD P02042 VAR_014277 p.Cys94Gly Polymorphism rs28933077 - HBD P02042 VAR_014278 p.His147Arg Unclassified - - HBD P02042 VAR_018740 p.Thr5Ile Polymorphism rs35406175 - HBD P02042 VAR_018741 p.Thr5Ser Unclassified - - HBD P02042 VAR_030499 p.His3Leu Unclassified - - HBD P02042 VAR_030500 p.Ala11Asp Unclassified - - HBD P02042 VAR_030501 p.Val12Gly Polymorphism rs34090605 - HBD P02042 VAR_030502 p.Pro37His Polymorphism rs34383555 - HBD P02042 VAR_030503 p.Asn58Lys Polymorphism rs35666685 - HBD P02042 VAR_030504 p.Ala71Gly Unclassified - - HBD P02042 VAR_030505 p.Phe86Ser Polymorphism rs35633566 - HBD P02042 VAR_030506 p.Gln88Lys Unclassified - - HBD P02042 VAR_030507 p.Leu89Val Polymorphism rs34933313 - HBD P02042 VAR_030508 p.Arg105Ser Polymorphism rs34390965 - HBD P02042 VAR_030509 p.Val134Ala Unclassified - - HBD P02042 VAR_030510 p.Ala141Val Unclassified - - HBG1 P69891 VAR_003124 p.His3Gln Polymorphism rs35315638 - HBG1 P69891 VAR_003125 p.Glu6Lys Polymorphism rs34427034 - HBG1 P69891 VAR_003127 p.Glu7Gly Polymorphism rs34432567 - HBG1 P69891 VAR_003128 p.Glu7Gln Polymorphism rs33924825 - HBG1 P69891 VAR_003130 p.Thr13Arg Polymorphism rs33992775 - HBG1 P69891 VAR_003135 p.Asp23Gly Polymorphism rs33970907 - HBG1 P69891 VAR_003138 p.Gly26Arg Polymorphism rs35957832 - HBG1 P69891 VAR_003141 p.Pro37Arg Polymorphism rs41404150 - HBG1 P69891 VAR_003142 p.Trp38Gly Polymorphism rs35700518 - HBG1 P69891 VAR_003143 p.Gln40Arg Polymorphism rs35977759 - HBG1 P69891 VAR_003145 p.Arg41Lys Polymorphism rs33974602 - HBG1 P69891 VAR_003147 p.Asp44Asn Polymorphism rs41475844 - HBG1 P69891 VAR_003149 p.Ala54Asp Polymorphism rs35746147 - HBG1 P69891 VAR_003153 p.Lys62Glu Polymorphism rs34747494 - HBG1 P69891 VAR_003158 p.Gly73Arg Unclassified - - HBG1 P69891 VAR_003159 p.Asp74Asn Unclassified - - HBG1 P69891 VAR_003160 p.Asp74His Unclassified - - HBG1 P69891 VAR_003161 p.Ile76Thr Polymorphism rs1061234 - HBG1 P69891 VAR_003163 p.Asp80Asn Unclassified - - HBG1 P69891 VAR_003164 p.Asp81Tyr Unclassified - - HBG1 P69891 VAR_003165 p.Asp81Asn Unclassified - - HBG1 P69891 VAR_003168 p.His98Arg Unclassified - - HBG1 P69891 VAR_003173 p.Glu122Lys Unclassified - - HBG1 P69891 VAR_003175 p.Ala129Thr Unclassified - - HBG1 P69891 VAR_003177 p.Val135Met Unclassified - - HBG2 P69892 VAR_003123 p.Gly2Cys Unclassified - - HBG2 P69892 VAR_003126 p.Glu6Gly Unclassified - - HBG2 P69892 VAR_003129 p.Asp8Asn Unclassified - - HBG2 P69892 VAR_003131 p.Trp16Arg Unclassified - - HBG2 P69892 VAR_003132 p.Gly17Arg Unclassified - - HBG2 P69892 VAR_003133 p.Glu22Lys Unclassified - - HBG2 P69892 VAR_003134 p.Glu22Gln Unclassified - - HBG2 P69892 VAR_003136 p.Asp23Val Unclassified - - HBG2 P69892 VAR_003137 p.Gly26Glu Unclassified - - HBG2 P69892 VAR_003139 p.Glu27Lys Unclassified - - HBG2 P69892 VAR_003140 p.Val35Ile Unclassified - - HBG2 P69892 VAR_003144 p.Arg41Gly Unclassified - - HBG2 P69892 VAR_003146 p.Phe42Ser Disease - Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 P69892 VAR_003148 p.Ser45Arg Unclassified - - HBG2 P69892 VAR_003150 p.Met56Arg Unclassified - - HBG2 P69892 VAR_003151 p.Lys60Glu Unclassified - - HBG2 P69892 VAR_003152 p.Lys60Gln Unclassified - - HBG2 P69892 VAR_003154 p.His64Tyr Disease - Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 P69892 VAR_003155 p.Lys66Asn Unclassified - - HBG2 P69892 VAR_003156 p.Lys67Arg Unclassified - - HBG2 P69892 VAR_003157 p.Lys67Gln Unclassified - - HBG2 P69892 VAR_003162 p.His78Arg Unclassified - - HBG2 P69892 VAR_003166 p.His93Tyr Disease rs35103459 Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 P69892 VAR_003167 p.Asp95Asn Unclassified - - HBG2 P69892 VAR_003169 p.Glu102Lys Unclassified - - HBG2 P69892 VAR_003170 p.Lys105Asn Unclassified - - HBG2 P69892 VAR_003171 p.His118Arg Unclassified - - HBG2 P69892 VAR_003172 p.Lys121Gln Polymorphism rs34703519 - HBG2 P69892 VAR_003174 p.Glu126Ala Unclassified - - HBG2 P69892 VAR_003176 p.Trp131Gly Unclassified - - HBG2 P69892 VAR_003179 p.His147Tyr Polymorphism rs34807671 - HBG2 P69892 VAR_015740 p.Phe119Leu Unclassified - - HBG2 P69892 VAR_020643 p.Lys9Glu Unclassified - - HBG2 P69892 VAR_020644 p.Lys9Gln Unclassified - - HBG2 P69892 VAR_020645 p.Thr13Arg Unclassified - - HBG2 P69892 VAR_020646 p.Lys18Asn Unclassified - - HBG2 P69892 VAR_020647 p.Asn20Lys Unclassified - - HBG2 P69892 VAR_020648 p.Asp23Gly Unclassified - - HBG2 P69892 VAR_020649 p.Arg41Lys Unclassified - - HBG2 P69892 VAR_020650 p.Gly73Arg Unclassified - - HBG2 P69892 VAR_020651 p.Ile76Thr Polymorphism rs1061234 - HBG2 P69892 VAR_020652 p.Asp81Asn Unclassified - - HBG2 P69892 VAR_020653 p.Glu122Lys Unclassified - - HBG2 P69892 VAR_025336 p.His64Leu Disease - Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 P69892 VAR_030496 p.Val21Ala Unclassified - - HBG2 P69892 VAR_030497 p.Thr39Pro Unclassified - - HBG2 P69892 VAR_030498 p.Ile76Val Unclassified - - HBS1L Q9Y450 VAR_048963 p.Gly440Ser Polymorphism rs4435957 - HCAR1 Q9BXC0 VAR_025151 p.His43Gln Polymorphism rs35292336 - HCAR1 Q9BXC0 VAR_025152 p.Asp253Glu Polymorphism - - HCAR1 Q9BXC0 VAR_061218 p.Asp253His Polymorphism rs36124671 - HCAR2 Q8TDS4 VAR_038713 p.Arg311Cys Polymorphism rs7314976 - HCAR2 Q8TDS4 VAR_038714 p.Met317Ile Polymorphism rs28682471 - HCAR2 Q8TDS4 VAR_049400 p.Gln187Arg Polymorphism rs676770 - HCAR2 Q8TDS4 VAR_049401 p.Phe198Leu Polymorphism rs676823 - HCAR3 P49019 VAR_038715 p.Pro173Thr Polymorphism rs1798192 - HCAR3 P49019 VAR_038716 p.Leu198Phe Polymorphism rs17884481 - HCAR3 P49019 VAR_038717 p.Arg253His Polymorphism - - HCAR3 P49019 VAR_038718 p.Met317Ile Polymorphism - - HCAR3 P49019 VAR_038719 p.Met346Ile Polymorphism rs56308926 - HCAR3 P49019 VAR_038720 p.Gly350Ser Polymorphism - - HCCS P53701 VAR_030823 p.Arg217Cys Disease - Microphthalmia syndromic type 7 (MCOPS7) [MIM:309801] HCFC1 P51610 VAR_019813 p.Ser1164Pro Polymorphism rs1051152 - HCFC1 P51610 VAR_050043 p.Ser2004Ile Polymorphism rs6643651 - HCFC1R1 Q9NWW0 VAR_043849 p.Pro92Gln Polymorphism rs10508 - HCFC2 Q9Y5Z7 VAR_033984 p.Gly268Ala Polymorphism rs17035206 - HCFC2 Q9Y5Z7 VAR_050044 p.Ala46Ser Polymorphism rs2700500 - HCK P08631 VAR_033836 p.Pro502Gln Polymorphism rs17093828 - HCK P08631 VAR_041707 p.Ala44Thr Polymorphism rs56029200 - HCK P08631 VAR_041708 p.Met105Leu Polymorphism rs55722810 - HCK P08631 VAR_041709 p.Asp399Gly Unclassified - An ovarian mucinous carcinoma sample HCLS1 P14317 VAR_055006 p.Thr235Ala Polymorphism rs2070179 - HCLS1 P14317 VAR_055007 p.Glu361Lys Polymorphism rs2070180 - HCLS1 P14317 VAR_056910 p.Val436Leu Polymorphism rs9869984 - HCN1 O60741 VAR_061105 p.Pro42Ser Polymorphism rs56164833 - HCN2 Q9UL51 VAR_061106 p.Arg527Gln Polymorphism rs55687900 - HCN3 Q9P1Z3 VAR_048746 p.Pro630Leu Polymorphism rs35001694 - HCN4 Q9Y3Q4 VAR_026534 p.Asp553Asn Unclassified - - HCN4 Q9Y3Q4 VAR_026535 p.Ser672Arg Disease - Sick sinus syndrome type 2 (SSS2) [MIM:163800] HCP5 Q6MZN7 VAR_042638 p.Trp32Arg Polymorphism rs17206855 - HCP5 Q6MZN7 VAR_042639 p.Trp82Cys Polymorphism rs2255221 - HCP5 Q6MZN7 VAR_042640 p.Gly93Glu Polymorphism rs2255223 - HCP5 Q6MZN7 VAR_042641 p.Val112Gly Polymorphism rs2395029 - HCP5 Q6MZN7 VAR_042642 p.His123Arg Polymorphism rs3130907 - HCRT O43612 VAR_011633 p.Leu16Arg Disease - Narcolepsy type 1 (NRCLP1) [MIM:161400] HCRTR1 O43613 VAR_022063 p.Ile408Val Polymorphism rs2271933 - HCRTR1 O43613 VAR_033480 p.Arg279Gln Polymorphism rs7516785 - HCRTR1 O43613 VAR_044505 p.Gly167Ser Polymorphism - - HCRTR1 O43613 VAR_044506 p.Arg281His Polymorphism rs41439244 - HCRTR2 O43614 VAR_044507 p.Pro10Ser Polymorphism rs41271310 - HCRTR2 O43614 VAR_044508 p.Pro11Thr Polymorphism rs41271312 - HCRTR2 O43614 VAR_044509 p.Ile293Val Polymorphism - - HCRTR2 O43614 VAR_044510 p.Ile308Val Polymorphism rs2653349 - HDAC10 Q969S8 VAR_015067 p.Gly584Cys Polymorphism - - HDAC10 Q969S8 VAR_049356 p.Val429Ile Polymorphism rs34402301 - HDAC2 Q92769 VAR_025311 p.Arg230Cys Polymorphism rs1042903 - HDAC2 Q92769 VAR_025312 p.Tyr315His Polymorphism rs17852888 - HDAC3 O15379 VAR_033988 p.Asn411Ser Polymorphism rs34901743 - HDAC4 P56524 VAR_036042 p.Pro727Arg Unclassified - A breast cancer sample HDAC5 Q9UQL6 VAR_055903 p.Arg137Gln Polymorphism rs438096 - HDAC5 Q9UQL6 VAR_055904 p.Gly565Ala Polymorphism rs33916560 - HDAC6 Q9UBN7 VAR_046300 p.Thr994Ile Polymorphism rs1127346 - HDAC7 Q8WUI4 VAR_036043 p.Val43Met Unclassified - A breast cancer sample HDAC9 Q9UKV0 VAR_064719 p.Pro921Thr Unclassified - - HDC P19113 VAR_033846 p.Glu644Asp Polymorphism rs2073440 - HDC P19113 VAR_036470 p.Glu49Val Unclassified - A colorectal cancer sample HDC P19113 VAR_036471 p.Glu285Lys Unclassified - A colorectal cancer sample HDC P19113 VAR_048873 p.Thr31Met Polymorphism rs17740607 - HDC P19113 VAR_048874 p.Phe553Leu Polymorphism rs16963486 - HDDC2 Q7Z4H3 VAR_037238 p.Arg64Cys Polymorphism rs12213371 - HDGFL1 Q5TGJ6 VAR_043447 p.Thr87Met Polymorphism rs2076506 - HDGF P51858 VAR_061209 p.Pro201Leu Polymorphism rs4399146 - HDHD1 Q08623 VAR_060625 p.Pro165Ala Polymorphism rs3747386 - HDHD1 Q08623 VAR_061094 p.Thr88Met Polymorphism rs1131197 - HDHD2 Q9H0R4 VAR_032289 p.Arg85Gln Polymorphism rs7230131 - HDHD3 Q9BSH5 VAR_032298 p.Gly146Glu Polymorphism rs1043836 - HDLBP Q00341 VAR_024511 p.Asn418Ser Polymorphism rs7578199 - HDLBP Q00341 VAR_029279 p.Trp1264Leu Polymorphism rs12281 - HDLBP Q00341 VAR_036052 p.Lys568Asn Unclassified - A breast cancer sample HDLBP Q00341 VAR_036053 p.Asp939Val Unclassified - A breast cancer sample HDLBP Q00341 VAR_047976 p.Ser61Ala Polymorphism rs11891776 - HDLBP Q00341 VAR_055981 p.Val229Ile Polymorphism rs7572799 - HDX Q7Z353 VAR_034827 p.Ala193Thr Polymorphism rs35653454 - HDX Q7Z353 VAR_034828 p.Phe397Ser Polymorphism rs35161124 - HEATR1 Q9H583 VAR_010939 p.Asn1694Ser Polymorphism rs2275689 - HEATR1 Q9H583 VAR_010940 p.Val1854Ala Polymorphism rs1885533 - HEATR1 Q9H583 VAR_010941 p.Asn1967Asp Polymorphism rs1126627 - HEATR1 Q9H583 VAR_010942 p.Glu2017Gly Polymorphism rs2275687 - HEATR1 Q9H583 VAR_049329 p.His348Arg Polymorphism rs2794751 - HEATR1 Q9H583 VAR_049330 p.Met607Val Polymorphism rs2794763 - HEATR1 Q9H583 VAR_049331 p.Asp957Gly Polymorphism rs16833953 - HEATR1 Q9H583 VAR_049332 p.Tyr1433Cys Polymorphism rs653737 - HEATR1 Q9H583 VAR_049333 p.Ser1559Asn Polymorphism rs6661946 - HEATR1 Q9H583 VAR_049334 p.Arg1654His Polymorphism rs16833884 - HEATR1 Q9H583 VAR_049335 p.Ser2077Leu Polymorphism rs6664730 - HEATR2 Q86Y56 VAR_056911 p.Val632Ala Polymorphism rs4720951 - HEATR2 Q86Y56 VAR_060463 p.Arg560Cys Polymorphism rs73258248 - HEATR2 Q86Y56 VAR_060464 p.Arg743Lys Polymorphism rs3922641 - HEATR3 Q7Z4Q2 VAR_033989 p.Arg302Ser Polymorphism rs34703459 - HEATR4 Q86WZ0 VAR_028817 p.Leu634His Polymorphism rs12894435 - HEATR4 Q86WZ0 VAR_028818 p.Trp643Gly Polymorphism rs12894425 - HEATR4 Q86WZ0 VAR_028819 p.Val660Ala Polymorphism rs12894400 - HEATR5B Q9P2D3 VAR_037392 p.Ser1601Pro Polymorphism rs2302657 - HEATR6 Q6AI08 VAR_043670 p.Ala71Val Polymorphism rs3744376 - HEATR6 Q6AI08 VAR_043671 p.Ser1006Leu Polymorphism rs16943991 - HEBP1 Q9NRV9 VAR_053363 p.Glu183Asp Polymorphism rs1941 - HEBP2 Q9Y5Z4 VAR_053364 p.Arg140Gln Polymorphism rs3734303 - HEBP2 Q9Y5Z4 VAR_053365 p.Glu191Ala Polymorphism rs14812 - HECTD1 Q9ULT8 VAR_059666 p.Gln656His Polymorphism rs11620816 - HECTD2 Q5U5R9 VAR_026836 p.Pro19Ala Polymorphism rs7081569 - HEG1 Q9ULI3 VAR_032253 p.Phe602Ser Polymorphism rs6790837 - HEG1 Q9ULI3 VAR_032254 p.Val980Leu Polymorphism rs10804567 - HEG1 Q9ULI3 VAR_032255 p.Met1039Thr Polymorphism rs6438869 - HEG1 Q9ULI3 VAR_048984 p.Gln145Arg Polymorphism rs4404487 - HEG1 Q9ULI3 VAR_059269 p.Ser305Pro Polymorphism rs2981546 - HELB Q8NG08 VAR_043855 p.Glu172Lys Polymorphism rs35605829 - HELB Q8NG08 VAR_043856 p.Leu191Pro Polymorphism rs4430553 - HELB Q8NG08 VAR_043857 p.Leu267Phe Polymorphism rs35138454 - HELB Q8NG08 VAR_043858 p.Pro966Leu Polymorphism rs1185244 - HELB Q8NG08 VAR_043859 p.Thr980Ile Polymorphism rs1168312 - HELB Q8NG08 VAR_061665 p.Thr575Ala Polymorphism rs58589183 - HELLS Q9NRZ9 VAR_064720 p.His616Arg Unclassified - - HELQ Q8TDG4 VAR_042643 p.Asp565Asn Unclassified - A breast cancer sample HELQ Q8TDG4 VAR_055892 p.Leu235Pro Polymorphism rs17006837 - HELQ Q8TDG4 VAR_055893 p.Pro585Ser Polymorphism rs6817280 - HELQ Q8TDG4 VAR_055894 p.Val1094Met Polymorphism rs17006794 - HELQ Q8TDG4 VAR_061213 p.Val35Glu Polymorphism rs6831595 - HELT A6NFD8 VAR_049540 p.Leu147Val Polymorphism rs1078461 - HELZ2 Q9BYK8 VAR_015597 p.Ser788Asn Polymorphism rs438363 - HELZ2 Q9BYK8 VAR_015598 p.His1123Arg Polymorphism rs310632 - HELZ2 Q9BYK8 VAR_015599 p.Pro2016Leu Polymorphism rs3810485 - HELZ2 Q9BYK8 VAR_015600 p.Gln2049Glu Polymorphism rs3810483 - HELZ2 Q9BYK8 VAR_047038 p.Ser1152Leu Polymorphism rs35817585 - HELZ2 Q9BYK8 VAR_047039 p.Val1308Leu Polymorphism rs310631 - HELZ2 Q9BYK8 VAR_047040 p.Arg1381Lys Polymorphism rs3810487 - HELZ2 Q9BYK8 VAR_047041 p.Leu1821Arg Polymorphism rs3810486 - HELZ2 Q9BYK8 VAR_047042 p.Thr1889Ala Polymorphism rs34980032 - HELZ2 Q9BYK8 VAR_047043 p.Thr2170Met Polymorphism rs3810481 - HELZ P42694 VAR_057273 p.Cys48Arg Polymorphism rs2302669 - HELZ P42694 VAR_057274 p.Val74Met Polymorphism rs8080100 - HELZ P42694 VAR_057275 p.Ala1530Val Polymorphism rs11653020 - HEMK1 Q9Y5R4 VAR_049503 p.Arg192Gln Polymorphism rs2232250 - HEMK1 Q9Y5R4 VAR_049504 p.His200Gln Polymorphism rs2232251 - HENMT1 Q5T8I9 VAR_035017 p.Thr129Ala Polymorphism rs9988420 - HENMT1 Q5T8I9 VAR_035018 p.Arg230Gln Polymorphism rs35974434 - HENMT1 Q5T8I9 VAR_035019 p.Met361Ile Polymorphism rs17850887 - HEPACAM2 A8MVW5 VAR_042976 p.Gly31Arg Unclassified - A breast cancer sample HEPACAM2 A8MVW5 VAR_042977 p.Lys86Thr Polymorphism rs10281525 - HEPACAM2 A8MVW5 VAR_064721 p.Phe114Leu Unclassified - - HEPACAM Q14CZ8 VAR_034731 p.Met218Val Polymorphism rs10790715 - HEPHL1 Q6MZM0 VAR_045903 p.Asn251Asp Polymorphism rs1945783 - HEPHL1 Q6MZM0 VAR_045904 p.Arg381Cys Polymorphism rs12291622 - HEPH Q9BQS7 VAR_024379 p.Ala595Thr Polymorphism rs17216603 - HEPN1 Q6WQI6 VAR_051027 p.Trp37Arg Polymorphism rs3802904 - HERC1 Q15751 VAR_042556 p.Leu1088Phe Polymorphism rs1063423 - HERC1 Q15751 VAR_042557 p.Leu1278Phe Polymorphism rs3764187 - HERC1 Q15751 VAR_042558 p.Gly1411Val Polymorphism rs36089909 - HERC1 Q15751 VAR_042559 p.His1447Asn Polymorphism rs7162519 - HERC1 Q15751 VAR_042560 p.Ser1572Ala Polymorphism rs16947363 - HERC1 Q15751 VAR_042561 p.Gly1696Ala Polymorphism rs2255243 - HERC1 Q15751 VAR_042562 p.Thr1995Ala Polymorphism rs2228512 - HERC1 Q15751 VAR_042563 p.Ile2220Val Polymorphism rs2228510 - HERC1 Q15751 VAR_042564 p.Ala2816Thr Polymorphism rs35122568 - HERC1 Q15751 VAR_042565 p.Ser3152Phe Polymorphism rs2228513 - HERC1 Q15751 VAR_042566 p.Gly3517Arg Polymorphism rs7182782 - HERC1 Q15751 VAR_042567 p.Glu3722Asp Polymorphism rs2229749 - HERC1 Q15751 VAR_057122 p.Ile4394Val Polymorphism rs2228516 - HERC2P3 Q9BVR0 VAR_046344 p.Leu759Pro Polymorphism rs17134681 - HERC2P3 Q9BVR0 VAR_046345 p.Arg1119Ile Polymorphism rs4931826 - HERC3 Q15034 VAR_051729 p.Glu946Gln Polymorphism rs1804080 - HERC5 Q9UII4 VAR_057123 p.Ala301Thr Polymorphism rs17014143 - HERC6 Q8IVU3 VAR_051725 p.Met123Thr Polymorphism rs7677237 - HERC6 Q8IVU3 VAR_051726 p.Cys199Arg Polymorphism rs12510688 - HERC6 Q8IVU3 VAR_051727 p.Phe343Leu Polymorphism rs17014118 - HERC6 Q8IVU3 VAR_051728 p.Thr614Ile Polymorphism rs6532068 - HERPUD1 Q15011 VAR_024277 p.Arg50His Polymorphism rs2217332 - HERPUD2 Q9BSE4 VAR_031182 p.Ala108Thr Polymorphism rs3779234 - HERPUD2 Q9BSE4 VAR_031183 p.His200Leu Polymorphism rs2305335 - HES2 Q9Y543 VAR_061256 p.Pro139Ser Polymorphism rs2235687 - HES6 Q96HZ4 VAR_019540 p.Arg218Gln Polymorphism rs3739061 - HES7 Q9BYE0 VAR_064921 p.Arg25Trp Disease - Spondylocostal dysostosis type 4 (SCDO4) [MIM:613686] HES7 Q9BYE0 VAR_064922 p.Ile58Val Disease - Spondylocostal dysostosis type 4 (SCDO4) [MIM:613686] HES7 Q9BYE0 VAR_064923 p.Asp186Tyr Disease - Spondylocostal dysostosis type 4 (SCDO4) [MIM:613686] HESX1 Q9UBX0 VAR_010225 p.Arg160Cys Disease rs28936702 Septooptic dysplasia (SOD) [MIM:182230] HESX1 Q9UBX0 VAR_010400 p.Asn125Ser Polymorphism rs9878928 - HESX1 Q9UBX0 VAR_063230 p.Gln6His Disease - Pituitary hormone deficiency combined type 5 (CPHD5) [MIM:182230] HESX1 Q9UBX0 VAR_063231 p.Ile26Thr Disease - Pituitary hormone deficiency combined type 5 (CPHD5) [MIM:182230] HESX1 Q9UBX0 VAR_063232 p.Glu149Lys Disease - Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230] HESX1 Q9UBX0 VAR_063233 p.Ser170Leu Disease - Septooptic dysplasia (SOD) [MIM:182230] HESX1 Q9UBX0 VAR_063234 p.Thr181Ala Disease - Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230] HEXA P06865 VAR_003202 p.Pro25Ser Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003203 p.Leu39Arg Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003204 p.Leu127Arg Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003205 p.Arg166Gly Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003206 p.Arg170Gln Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003207 p.Arg170Trp Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003208 p.Arg178Cys Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003209 p.Arg178His Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003210 p.Arg178Leu Disease rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003211 p.Tyr180His Disease rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003212 p.Val192Leu Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003213 p.Asn196Ser Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003214 p.Lys197Thr Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003215 p.Val200Met Disease rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003216 p.His204Arg Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003217 p.Ser210Phe Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003218 p.Phe211Ser Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003219 p.Arg247Trp Unclassified - - HEXA P06865 VAR_003220 p.Arg249Trp Unclassified - - HEXA P06865 VAR_003221 p.Gly250Asp Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003222 p.Gly250Ser Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003223 p.Arg252His Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003224 p.Asp258His Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003225 p.Gly269Ser Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003226 p.Ser279Pro Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003227 p.Met301Arg Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003230 p.Ile335Phe Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003232 p.Val391Met Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003233 p.Asn399Asp Polymorphism rs1800430 - HEXA P06865 VAR_003234 p.Trp420Cys Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003235 p.Ile436Val Polymorphism rs1800431 - HEXA P06865 VAR_003236 p.Gly454Ser Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003237 p.Gly455Arg Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003238 p.Cys458Tyr Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003239 p.Trp474Cys Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003240 p.Glu482Lys Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003241 p.Leu484Gln Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003242 p.Trp485Arg Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003243 p.Arg499Cys Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003244 p.Arg499His Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003245 p.Arg504Cys Disease rs28942071 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_003246 p.Arg504His Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_017188 p.Arg252Leu Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_017189 p.Asn295Ser Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_022439 p.Leu127Phe Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_022440 p.Ser226Phe Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_022441 p.Gly269Asp Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_022442 p.Asp314Val Disease - GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] HEXA P06865 VAR_058477 p.Ser293Ile Polymorphism rs1054374 - HEXB P07686 VAR_003247 p.Ser62Leu Disease rs820878 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_003248 p.Lys121Arg Polymorphism rs11556045 - HEXB P07686 VAR_003249 p.Ile207Val Polymorphism rs10805890 - HEXB P07686 VAR_003250 p.Cys309Tyr Disease - GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_003251 p.Pro417Leu Disease rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_003252 p.Tyr456Ser Disease - GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_003253 p.Arg505Gln Disease - GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_003254 p.Cys534Tyr Disease - GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_011704 p.Ser255Arg Disease - GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_011705 p.Pro504Ser Disease - GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] HEXB P07686 VAR_011706 p.Ala543Thr Disease - GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] HEXDC Q8WVB3 VAR_038395 p.Ile145Val Polymorphism rs4789773 - HEXDC Q8WVB3 VAR_060726 p.His232Tyr Polymorphism rs17853433 - HEY2 Q9UBP5 VAR_026974 p.Thr96Ala Unclassified - - HEY2 Q9UBP5 VAR_026975 p.Asp98Ala Unclassified - - HEY2 Q9UBP5 VAR_026976 p.Leu100Ser Unclassified - - HEY2 Q9UBP5 VAR_026977 p.Val140Met Polymorphism rs3734638 - HEYL Q9NQ87 VAR_032112 p.His47Arg Polymorphism rs784625 - HFE2 Q6ZVN8 VAR_019617 p.Cys80Arg Disease rs28940586 Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019618 p.Ser85Pro Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019619 p.Gly99Arg Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019620 p.Leu101Pro Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019621 p.Ala168Asp Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019622 p.Phe170Ser Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019623 p.Asp172Glu Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019624 p.Trp191Cys Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019625 p.Ser205Arg Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019626 p.Ile222Asn Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019627 p.Gly250Val Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019628 p.Arg288Trp Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019629 p.Gly320Val Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_019927 p.Cys321Trp Disease - Hemochromatosis type 2A (HFE2A) [MIM:602390] HFE2 Q6ZVN8 VAR_053636 p.Ala310Gly Polymorphism rs7540883 - HFE Q30201 VAR_004396 p.His63Asp Polymorphism rs1799945 - HFE Q30201 VAR_004397 p.Ser65Cys Disease rs1800730 Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_004398 p.Cys282Tyr Disease rs1800562 Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_008111 p.Val53Met Polymorphism rs28934889 - HFE Q30201 VAR_008112 p.Val59Met Polymorphism rs28934890 - HFE Q30201 VAR_008113 p.Gln127His Disease rs28934595 Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_008114 p.Arg330Met Disease - Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_008729 p.Gly93Arg Disease rs28934597 Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_008730 p.Ile105Thr Disease rs28934596 Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_008731 p.Glu277Lys Polymorphism - - HFE Q30201 VAR_020270 p.Thr217Ile Polymorphism rs4986950 - HFE Q30201 VAR_037304 p.Gln283Pro Disease - Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_042506 p.Arg6Ser Disease - Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_042507 p.Gly43Asp Disease - Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_042508 p.Arg66Cys Disease - Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_042509 p.Ala176Val Unclassified - - HFE Q30201 VAR_042510 p.Arg224Gly Disease - Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_042511 p.Val295Ala Disease - Hemochromatosis (HFE) [MIM:235200] HFE Q30201 VAR_062279 p.Arg224Gln Polymorphism - - HFM1 A2PYH4 VAR_039799 p.Ser115Pro Polymorphism rs11165778 - HFM1 A2PYH4 VAR_039800 p.Ile117Val Polymorphism rs282009 - HFM1 A2PYH4 VAR_049338 p.Ile939Val Polymorphism rs11584478 - HGD Q93099 VAR_005272 p.Glu42Ala Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005273 p.Trp60Gly Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005274 p.Tyr62Cys Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005275 p.Trp97Gly Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005276 p.Ala122Asp Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005277 p.Asp153Gly Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005278 p.Gly161Arg Disease rs28941783 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005279 p.Ser189Ile Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005280 p.Ile216Thr Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005281 p.Arg225His Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005282 p.Phe227Ser Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005283 p.Pro230Ser Disease rs28942100 Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005284 p.Pro230Thr Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005285 p.Asp291Glu Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005286 p.Val300Gly Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_005287 p.Met368Val Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_008744 p.Arg330Ser Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_008745 p.His371Arg Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_009618 p.Leu25Pro Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_009619 p.Glu168Lys Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_009620 p.Gly270Arg Disease - Alkaptonuria (AKU) [MIM:203500] HGD Q93099 VAR_049353 p.Gln80His Polymorphism rs2255543 - HGFAC Q04756 VAR_024294 p.Arg509His Polymorphism rs16844401 - HGFAC Q04756 VAR_024295 p.Arg644Gln Polymorphism rs2498323 - HGFAC Q04756 VAR_033651 p.Val225Met Polymorphism rs16844370 - HGFAC Q04756 VAR_033652 p.Phe231Leu Polymorphism rs1987546 - HGFAC Q04756 VAR_051851 p.Ala218Ser Polymorphism rs3748034 - HGF P14210 VAR_014570 p.Ser153Ile Polymorphism rs17566 - HGF P14210 VAR_019199 p.Glu304Lys Polymorphism rs5745687 - HGF P14210 VAR_019200 p.Asp330Tyr Polymorphism rs5745688 - HGSNAT Q68CP4 VAR_030083 p.Pro311Leu Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030084 p.Arg372Cys Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030085 p.Gly452Ser Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030086 p.Glu499Lys Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030087 p.Met510Lys Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030088 p.Ser569Leu Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030089 p.Asp590Val Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_030090 p.Pro599Leu Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063983 p.Cys104Phe Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063984 p.Leu165Pro Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063985 p.Pro265Gln Polymorphism - - HGSNAT Q68CP4 VAR_063986 p.Ile280Arg Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063987 p.Gly290Arg Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063988 p.Asn301Lys Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063989 p.Arg372His Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063990 p.Trp431Cys Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063991 p.Val509Leu Polymorphism - - HGSNAT Q68CP4 VAR_063992 p.Gly514Glu Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063993 p.Ala517Glu Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063994 p.Ser546Phe Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063995 p.Lys551Gln Polymorphism - - HGSNAT Q68CP4 VAR_063996 p.Ser567Cys Disease - Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] HGSNAT Q68CP4 VAR_063997 p.Ala643Thr Polymorphism - - HGS O14964 VAR_052981 p.Glu400Asp Polymorphism rs34868130 - HGS O14964 VAR_054154 p.Thr7Ser Polymorphism - - HGS O14964 VAR_061991 p.Ala733Ser Polymorphism rs56058441 - HHATL Q9HCP6 VAR_014947 p.Met403Val Polymorphism rs11079 - HHAT Q5VTY9 VAR_024743 p.Ser182Asn Polymorphism rs2294851 - HHAT Q5VTY9 VAR_024744 p.Gly448Glu Unclassified - A melanoma cell line HHAT Q5VTY9 VAR_024745 p.Asn450Ser Unclassified - A lung cancer cell line HHAT Q5VTY9 VAR_050024 p.Glu165Gly Polymorphism rs2228898 - HHAT Q5VTY9 VAR_061336 p.Cys188Arg Polymorphism rs34228541 - HHIPL1 Q96JK4 VAR_060163 p.Val692Ala Polymorphism rs7158073 - HHIPL2 Q6UWX4 VAR_053986 p.Val241Met Polymorphism rs3811466 - HHIPL2 Q6UWX4 VAR_062220 p.His391Asp Polymorphism rs3748666 - HHIPL2 Q6UWX4 VAR_062221 p.Arg394Gln Polymorphism rs3748665 - HHIPL2 Q6UWX4 VAR_062222 p.Arg434Leu Polymorphism rs3748663 - HHIP Q96QV1 VAR_021518 p.Val341Ile Polymorphism - - HHLA2 Q9UM44 VAR_027487 p.Ile30Thr Polymorphism rs6779254 - HHLA2 Q9UM44 VAR_027488 p.Asn344Lys Polymorphism rs3792332 - HHLA2 Q9UM44 VAR_027489 p.Ser364Arg Polymorphism rs6779094 - HIATL1 Q5SR56 VAR_055401 p.Val406Leu Polymorphism rs17851857 - HIBCH Q6NVY1 VAR_031869 p.Thr46Ala Polymorphism rs1058180 - HIBCH Q6NVY1 VAR_031870 p.Tyr122Cys Disease - HIBCH deficiency (HIBCHD) [MIM:250620] HIC1 Q14526 VAR_063109 p.Arg725Gly Polymorphism rs1063317 - HIF1AN Q9NWT6 VAR_051028 p.Pro41Ala Polymorphism rs2295778 - HIF1A Q16665 VAR_015854 p.Thr796Ala Polymorphism rs1802821 - HIF1A Q16665 VAR_049541 p.Pro582Ser Polymorphism rs11549465 - HIF1A Q16665 VAR_049542 p.Ala588Thr Polymorphism rs11549467 - HIF3A Q9Y2N7 VAR_031731 p.Gln343Arg Polymorphism rs3764609 - HIF3A Q9Y2N7 VAR_031732 p.Phe463Leu Polymorphism rs7253301 - HIGD1B Q9P298 VAR_049354 p.Ser86Asn Polymorphism rs1071682 - HIGD1B Q9P298 VAR_049355 p.Asp87Asn Polymorphism rs2231650 - HINFP Q9BQA5 VAR_019424 p.Ala493Val Polymorphism rs100803 - HINFP Q9BQA5 VAR_026547 p.Pro4Ser Polymorphism rs17850972 - HINFP Q9BQA5 VAR_026548 p.Ser78Cys Polymorphism rs17850974 - HINFP Q9BQA5 VAR_038793 p.Lys352Arg Polymorphism rs34118252 - HINT3 Q9NQE9 VAR_039734 p.Gly36Ala Polymorphism rs2295005 - HIP1 O00291 VAR_051032 p.Met263Lys Polymorphism rs17149023 - HIP1R O75146 VAR_020043 p.Val782Met Polymorphism rs2271051 - HIP1R O75146 VAR_051029 p.Lys404Gln Polymorphism rs7972242 - HIP1R O75146 VAR_051030 p.Lys516Gln Polymorphism rs7972242 - HIP1R O75146 VAR_051031 p.Asn943Ser Polymorphism rs3736414 - HIPK1 Q86Z02 VAR_040546 p.Gly310Cys Polymorphism - - HIPK1 Q86Z02 VAR_046047 p.Leu1165Val Polymorphism - - HIPK1 Q86Z02 VAR_051626 p.Gln6Arg Polymorphism rs35324789 - HIPK2 Q9H2X6 VAR_040547 p.Arg792Gln Polymorphism - - HIPK2 Q9H2X6 VAR_040548 p.Arg1027Gln Polymorphism - - HIPK3 Q9H422 VAR_040549 p.Gln142Arg Polymorphism rs34193811 - HIPK3 Q9H422 VAR_040550 p.Gly170Glu Polymorphism rs34698015 - HIPK3 Q9H422 VAR_040551 p.Cys191Arg Polymorphism rs35689361 - HIPK3 Q9H422 VAR_040552 p.Ser500Asn Polymorphism rs11032229 - HIPK3 Q9H422 VAR_040553 p.Pro729Leu Polymorphism rs55807239 - HIPK3 Q9H422 VAR_051627 p.Val474Ile Polymorphism rs266472 - HIPK4 Q8NE63 VAR_030578 p.Arg302Gln Polymorphism rs11670988 - HIPK4 Q8NE63 VAR_040554 p.Ala106Thr Polymorphism rs34434715 - HIPK4 Q8NE63 VAR_040555 p.Val171Met Polymorphism rs55964225 - HIPK4 Q8NE63 VAR_040556 p.Thr381Met Polymorphism rs55760165 - HIPK4 Q8NE63 VAR_040557 p.Ala386Thr Polymorphism rs56365273 - HIPK4 Q8NE63 VAR_040558 p.Ser406Arg Polymorphism rs56094851 - HIPK4 Q8NE63 VAR_040559 p.Gly421Ser Polymorphism rs56117722 - HIPK4 Q8NE63 VAR_040560 p.Arg481Cys Polymorphism rs55801979 - HIRIP3 Q9BW71 VAR_028115 p.Gly521Trp Polymorphism rs11643314 - HIRIP3 Q9BW71 VAR_051033 p.Ala496Val Polymorphism rs35431046 - HIST1H1A Q02539 VAR_049301 p.Thr99Ile Polymorphism rs417751 - HIST1H1A Q02539 VAR_049302 p.Ser115Phe Polymorphism rs34541321 - HIST1H1A Q02539 VAR_049303 p.Lys140Arg Polymorphism rs16891235 - HIST1H1B P16401 VAR_036204 p.Gly86Asp Unclassified - A colorectal cancer sample HIST1H1B P16401 VAR_049308 p.Lys144Arg Polymorphism rs11970638 - HIST1H1B P16401 VAR_049309 p.Ala211Thr Polymorphism rs34144478 - HIST1H1C P16403 VAR_003618 p.Ala18Val Polymorphism rs2230653 - HIST1H1C P16403 VAR_049304 p.Ser113Ala Polymorphism rs34810376 - HIST1H1C P16403 VAR_049305 p.Gly124Ala Polymorphism rs12111009 - HIST1H1D P16402 VAR_049306 p.Glu75Lys Polymorphism rs2050949 - HIST1H1E P10412 VAR_036203 p.Ala128Val Unclassified - A colorectal cancer sample HIST1H1E P10412 VAR_049307 p.Lys152Arg Polymorphism rs2298090 - HIST1H1T P22492 VAR_049310 p.Val14Leu Polymorphism rs198844 - HIST1H1T P22492 VAR_049311 p.Leu52Phe Polymorphism rs2051542 - HIST1H1T P22492 VAR_049312 p.Gln178Lys Polymorphism rs198845 - HIST1H2BC P62807 VAR_055887 p.Gly27Ser Polymorphism rs7766641 - HIST1H2BL Q99880 VAR_049313 p.Leu4Pro Polymorphism rs200484 - HIST1H2BM Q99879 VAR_036205 p.His110Tyr Unclassified - A colorectal cancer sample HIST1H4A P62805 VAR_036206 p.Glu64Gln Unclassified - A breast cancer sample HIST2H2AB Q8IUE6 VAR_035802 p.Ala53Thr Unclassified - A breast cancer sample HIST2H3A Q71DI3 VAR_059313 p.Met91Thr Polymorphism rs2664732 - HIST2H3A Q71DI3 VAR_059314 p.Ala128Val Polymorphism rs2664731 - HIVEP1 P15822 VAR_057383 p.Thr187Met Polymorphism rs2228209 - HIVEP1 P15822 VAR_057384 p.Pro362Leu Polymorphism rs34221818 - HIVEP1 P15822 VAR_057385 p.Thr716Ala Polymorphism rs2228210 - HIVEP1 P15822 VAR_057386 p.Val828Ile Polymorphism rs2228218 - HIVEP1 P15822 VAR_057387 p.Thr873Ala Polymorphism rs6900196 - HIVEP1 P15822 VAR_057388 p.Asn1074Ser Polymorphism rs2228220 - HIVEP1 P15822 VAR_057389 p.Lys1170Asn Polymorphism rs34258344 - HIVEP1 P15822 VAR_057390 p.Ala1520Gly Polymorphism rs2228212 - HIVEP1 P15822 VAR_057391 p.Met1609Ile Polymorphism rs2228213 - HIVEP1 P15822 VAR_057392 p.Gln1915Arg Polymorphism rs1126472 - HIVEP1 P15822 VAR_059892 p.Thr2444Met Polymorphism rs2228214 - HIVEP1 P15822 VAR_059893 p.Ala2692Gly Polymorphism rs1042054 - HIVEP2 P31629 VAR_052754 p.Arg46Gln Polymorphism rs17072013 - HIVEP2 P31629 VAR_052755 p.Ala1041Val Polymorphism rs34875559 - HIVEP2 P31629 VAR_052756 p.Leu1293Ile Polymorphism rs35675714 - HIVEP2 P31629 VAR_052757 p.Leu1538Pro Polymorphism rs109836 - HIVEP3 Q5T1R4 VAR_042910 p.Val35Ile Polymorphism rs2146315 - HIVEP3 Q5T1R4 VAR_042911 p.Val484Met Unclassified - A colorectal cancer sample HIVEP3 Q5T1R4 VAR_042912 p.His575Arg Polymorphism rs2810566 - HIVEP3 Q5T1R4 VAR_042913 p.Gln1087His Polymorphism rs17363472 - HIVEP3 Q5T1R4 VAR_042914 p.Ala2023Pro Polymorphism rs2483689 - HIVEP3 Q5T1R4 VAR_042915 p.Asp2109Ala Polymorphism rs2991344 - HIVEP3 Q5T1R4 VAR_042916 p.Gly2272Arg Polymorphism rs11809423 - HIVEP3 Q5T1R4 VAR_042917 p.Thr2339Ala Polymorphism rs9439043 - HJURP Q8NCD3 VAR_056912 p.Thr4Ala Polymorphism rs2302154 - HJURP Q8NCD3 VAR_056913 p.Ser548Thr Polymorphism rs17863822 - HJURP Q8NCD3 VAR_056914 p.Ser549Cys Polymorphism rs3821238 - HJURP Q8NCD3 VAR_056915 p.Glu568Asp Polymorphism rs3771333 - HJURP Q8NCD3 VAR_056916 p.Ser691Phe Polymorphism rs12582 - HJURP Q8NCD3 VAR_057946 p.Glu76Lys Polymorphism rs2286430 - HJURP Q8NCD3 VAR_057947 p.Arg199Gly Polymorphism rs3806589 - HJURP Q8NCD3 VAR_057948 p.Ser295Cys Polymorphism rs3732215 - HJURP Q8NCD3 VAR_057949 p.Glu723Gly Polymorphism rs10511 - HK1 P19367 VAR_009878 p.Leu529Ser Disease - Hexokinase deficiency (HK deficiency) [MIM:235700] HK1 P19367 VAR_023780 p.Thr680Ser Disease - Hexokinase deficiency (HK deficiency) [MIM:235700] HK1 P19367 VAR_023781 p.Leu776Met Polymorphism rs1054203 - HK2 P52789 VAR_003691 p.Gln142His Polymorphism rs2229621 - HK2 P52789 VAR_010577 p.Leu148Phe Polymorphism - - HK2 P52789 VAR_010578 p.Ala314Val Polymorphism - - HK2 P52789 VAR_010579 p.Arg353Cys Polymorphism - - HK2 P52789 VAR_010580 p.Arg497Gln Polymorphism rs2229625 - HK2 P52789 VAR_010581 p.Arg775Gln Polymorphism - - HK2 P52789 VAR_010582 p.Arg844Lys Polymorphism rs2229629 - HK2 P52789 VAR_020504 p.Arg274Cys Polymorphism rs28363006 - HK2 P52789 VAR_020505 p.Ala314Pro Polymorphism rs28363015 - HK2 P52789 VAR_020506 p.Thr331Ile Polymorphism rs28363016 - HK2 P52789 VAR_020507 p.Ala387Ser Polymorphism rs28363029 - HK2 P52789 VAR_020508 p.Arg801Gln Polymorphism rs28363057 - HK2 P52789 VAR_020509 p.Asp881Asn Polymorphism rs28363065 - HK3 P52790 VAR_034004 p.Gly281Arg Polymorphism rs35610191 - HK3 P52790 VAR_036186 p.Arg480Trp Unclassified - A colorectal cancer sample HK3 P52790 VAR_036187 p.Ala499Val Unclassified - A breast cancer sample HKDC1 Q2TB90 VAR_034776 p.Asp54Gly Polymorphism rs10823320 - HKDC1 Q2TB90 VAR_034777 p.Thr124Ile Polymorphism rs874556 - HKDC1 Q2TB90 VAR_034778 p.Leu204Pro Polymorphism rs7899445 - HKDC1 Q2TB90 VAR_034779 p.Trp721Arg Polymorphism rs1111335 - HKDC1 Q2TB90 VAR_034780 p.Asn917Lys Polymorphism rs906219 - HKR1 P10072 VAR_047404 p.Arg448His Polymorphism rs2921563 - HKR1 P10072 VAR_047405 p.Ser513Ile Polymorphism rs3745765 - HKR1 P10072 VAR_047406 p.Thr628Ile Polymorphism rs3745764 - HLA-A P01891 VAR_004389 p.Val36Met Polymorphism - - HLA-A P01891 VAR_004390 p.Met121Arg Polymorphism - - HLA-A P01891 VAR_004391 p.Ser129Pro Polymorphism rs1136700 - HLA-A P01891 VAR_004392 p.Arg138His Polymorphism - - HLA-A P01891 VAR_004393 p.Asp140Tyr Polymorphism - - HLA-A P01891 VAR_010363 p.Gln94His Polymorphism rs1059463 - HLA-A P01891 VAR_010364 p.Thr97Ile Polymorphism - - HLA-A P01891 VAR_010365 p.Asp98His Polymorphism - - HLA-A P01891 VAR_010366 p.Arg138Glu Polymorphism - - HLA-A P01891 VAR_010367 p.Asp140His Polymorphism - - HLA-A P01891 VAR_010368 p.Asp140Val Polymorphism - - HLA-A P01891 VAR_010369 p.His175Leu Polymorphism - - HLA-A P01891 VAR_010370 p.Trp180Leu Polymorphism - - HLA-A P01891 VAR_010371 p.Trp180Gln Polymorphism - - HLA-A P01891 VAR_056304 p.Arg89Gly Polymorphism rs1059459 - HLA-A P01891 VAR_056305 p.Asp101Asn Polymorphism rs1136688 - HLA-A P01891 VAR_056306 p.Phe133Leu Polymorphism rs1059488 - HLA-A P01892 VAR_004334 p.Phe33Tyr Polymorphism - - HLA-A P01892 VAR_004335 p.Asp54Asn Polymorphism - - HLA-A P01892 VAR_004336 p.Gln67Arg Polymorphism - - HLA-A P01892 VAR_004337 p.Lys90Asn Polymorphism - - HLA-A P01892 VAR_004338 p.Thr97Ile Polymorphism - - HLA-A P01892 VAR_004339 p.Val119Leu Polymorphism - - HLA-A P01892 VAR_004340 p.Arg121Met Polymorphism - - HLA-A P01892 VAR_004341 p.Tyr123Cys Polymorphism - - HLA-A P01892 VAR_004342 p.Tyr123Phe Polymorphism - - HLA-A P01892 VAR_004343 p.Trp131Gly Polymorphism - - HLA-A P01892 VAR_004344 p.Met162Lys Polymorphism - - HLA-A P01892 VAR_004345 p.Ala173Thr Polymorphism - - HLA-A P01892 VAR_004346 p.Val176Glu Polymorphism - - HLA-A P01892 VAR_004347 p.Leu180Trp Polymorphism - - HLA-A P01892 VAR_004348 p.Leu180Gln Polymorphism - - HLA-A P01892 VAR_004349 p.Thr187Glu Polymorphism - - HLA-A P01892 VAR_004350 p.Ala260Glu Polymorphism - - HLA-A P01892 VAR_016726 p.Ala65Gly Polymorphism - - HLA-A P01892 VAR_016727 p.His94Gln Polymorphism - - HLA-A P01892 VAR_016728 p.His98Asp Polymorphism - - HLA-A P01892 VAR_016729 p.Glu190Asp Polymorphism - - HLA-A P01892 VAR_016730 p.Trp191Gly Polymorphism - - HLA-A P04439 VAR_004351 p.Glu176Val Polymorphism - - HLA-A P04439 VAR_004352 p.Leu180Gln Polymorphism - - HLA-A P04439 VAR_016604 p.Asp185Glu Polymorphism rs1059542 - HLA-A P04439 VAR_016605 p.Gly199Arg Polymorphism - - HLA-A P04439 VAR_033149 p.Gly186Ala Polymorphism - - HLA-A P04439 VAR_050310 p.Arg89Gly Polymorphism rs1059459 - HLA-A P04439 VAR_050311 p.Gln94His Polymorphism rs1059463 - HLA-A P04439 VAR_050312 p.Asp101Asn Polymorphism rs1136688 - HLA-A P04439 VAR_050313 p.Ile121Met Polymorphism rs1136695 - HLA-A P04439 VAR_050314 p.Ser129Pro Polymorphism rs1136700 - HLA-A P04439 VAR_050315 p.Gly131Trp Polymorphism rs1136702 - HLA-A P04439 VAR_050316 p.Phe133Leu Polymorphism rs1059488 - HLA-A P04439 VAR_050317 p.Asn151Lys Polymorphism rs1059509 - HLA-A P04439 VAR_050318 p.Ile166Thr Polymorphism rs1059516 - HLA-A P04439 VAR_050319 p.Arg169His Polymorphism rs1059520 - HLA-A P04439 VAR_050320 p.Arg205His Polymorphism rs17185861 - HLA-A P05534 VAR_004354 p.Ala5Gly Polymorphism - - HLA-A P05534 VAR_004355 p.His27Gln Polymorphism rs41541319 - HLA-A P05534 VAR_004356 p.Glu86Gly Polymorphism - - HLA-A P05534 VAR_004357 p.Gly89Arg Polymorphism - - HLA-A P05534 VAR_004358 p.Gln180Trp Polymorphism - - HLA-A P05534 VAR_004360 p.Thr206Ala Polymorphism - - HLA-A P05534 VAR_015765 p.Leu119Val Polymorphism - - HLA-A P05534 VAR_015766 p.Met121Arg Polymorphism - - HLA-A P05534 VAR_015767 p.Phe123Tyr Polymorphism - - HLA-A P05534 VAR_015768 p.Gly131Trp Polymorphism - - HLA-A P05534 VAR_015769 p.Gln180Leu Polymorphism - - HLA-A P05534 VAR_015770 p.Thr187Arg Polymorphism - - HLA-A P05534 VAR_056263 p.Arg205His Polymorphism rs17185861 - HLA-A P10314 VAR_004373 p.Arg175His Polymorphism - - HLA-A P10314 VAR_004374 p.Leu180Gln Polymorphism - - HLA-A P10314 VAR_016657 p.Ser101Asn Polymorphism - - HLA-A P10314 VAR_016831 p.Met121Ile Polymorphism - - HLA-A P10314 VAR_016832 p.Pro129Ser Polymorphism - - HLA-A P10314 VAR_016833 p.Leu133Phe Polymorphism - - HLA-A P10314 VAR_016834 p.Gln138Arg Polymorphism - - HLA-A P10314 VAR_016835 p.Gln168Lys Polymorphism - - HLA-A P10314 VAR_016836 p.Val176Glu Polymorphism - - HLA-A P10314 VAR_016837 p.Glu185Asp Polymorphism - - HLA-A P10314 VAR_056283 p.Arg89Gly Polymorphism rs1059459 - HLA-A P10314 VAR_056284 p.Asn151Lys Polymorphism rs1059509 - HLA-A P10314 VAR_056285 p.Ile166Thr Polymorphism rs1059516 - HLA-A P10316 VAR_056307 p.Arg89Gly Polymorphism rs1059459 - HLA-A P10316 VAR_056308 p.Gln94His Polymorphism rs1059463 - HLA-A P10316 VAR_056309 p.Asp101Asn Polymorphism rs1136688 - HLA-A P13746 VAR_004353 p.Glu43Lys Polymorphism - - HLA-A P13746 VAR_016731 p.Phe133Leu Polymorphism rs1059488 - HLA-A P13746 VAR_016732 p.Lys168Glu Polymorphism - - HLA-A P13746 VAR_016733 p.His175Arg Polymorphism - - HLA-A P13746 VAR_016734 p.Ala176Glu Polymorphism - - HLA-A P13746 VAR_016735 p.Arg187Thr Polymorphism - - HLA-A P13746 VAR_016736 p.Thr345Ser Polymorphism - - HLA-A P13746 VAR_056254 p.Arg89Gly Polymorphism rs1059459 - HLA-A P13746 VAR_056255 p.Gln94His Polymorphism rs1059463 - HLA-A P13746 VAR_056256 p.Asp101Asn Polymorphism rs1136688 - HLA-A P13746 VAR_056257 p.Gly131Trp Polymorphism rs1136702 - HLA-A P13746 VAR_056258 p.Asn151Lys Polymorphism rs1059509 - HLA-A P13746 VAR_056259 p.Ile166Thr Polymorphism rs1059516 - HLA-A P13746 VAR_056260 p.Arg169His Polymorphism rs1059520 - HLA-A P13746 VAR_056261 p.Arg205His Polymorphism rs17185861 - HLA-A P16188 VAR_004366 p.His21Gln Polymorphism - - HLA-A P16188 VAR_004367 p.Arg80Gly Polymorphism - - HLA-A P16188 VAR_004368 p.Gln94His Polymorphism rs1059463 - HLA-A P16188 VAR_004371 p.Trp176Arg Polymorphism - - HLA-A P16188 VAR_004372 p.Leu180Trp Polymorphism - - HLA-A P16188 VAR_010284 p.Ser33Tyr Polymorphism - - HLA-A P16188 VAR_016653 p.Thr55Ala Polymorphism - - HLA-A P16188 VAR_016738 p.Gln86Glu Polymorphism - - HLA-A P16188 VAR_056271 p.Arg89Gly Polymorphism rs1059459 - HLA-A P16188 VAR_056272 p.Asp101Asn Polymorphism rs1136688 - HLA-A P16188 VAR_056273 p.Ile121Met Polymorphism rs1136695 - HLA-A P16188 VAR_056274 p.Ser129Pro Polymorphism rs1136700 - HLA-A P16188 VAR_056275 p.Gly131Trp Polymorphism rs1136702 - HLA-A P16188 VAR_056276 p.Phe133Leu Polymorphism rs1059488 - HLA-A P16188 VAR_056277 p.Asn151Lys Polymorphism rs1059509 - HLA-A P16188 VAR_056278 p.Ile166Thr Polymorphism rs1059516 - HLA-A P16188 VAR_056279 p.Arg205His Polymorphism rs17185861 - HLA-A P16189 VAR_010373 p.Met121Ile Polymorphism - - HLA-A P16189 VAR_010374 p.Gln138Arg Polymorphism - - HLA-A P16189 VAR_016348 p.Asn90Lys Polymorphism - - HLA-A P16189 VAR_016349 p.Ala114Asp Polymorphism - - HLA-A P16189 VAR_056280 p.Asn151Lys Polymorphism rs1059509 - HLA-A P16189 VAR_056281 p.Ile166Thr Polymorphism rs1059516 - HLA-A P16189 VAR_056282 p.Arg205His Polymorphism rs17185861 - HLA-A P16190 VAR_004375 p.Arg41Ser Polymorphism - - HLA-A P16190 VAR_004376 p.His195Tyr Polymorphism - - HLA-A P16190 VAR_004378 p.Met358Val Polymorphism - - HLA-A P16190 VAR_056286 p.Asn151Lys Polymorphism rs1059509 - HLA-A P16190 VAR_056287 p.Ile166Thr Polymorphism rs1059516 - HLA-A P18462 VAR_004361 p.His94Gln Polymorphism - - HLA-A P18462 VAR_016737 p.Tyr33Phe Polymorphism rs2075684 - HLA-A P18462 VAR_056264 p.Asn151Lys Polymorphism rs1059509 - HLA-A P18462 VAR_056265 p.Ile166Thr Polymorphism rs1059516 - HLA-A P30443 VAR_004332 p.Phe33Ser Polymorphism rs2075684 - HLA-A P30443 VAR_004333 p.Arg41Ser Polymorphism - - HLA-A P30443 VAR_016719 p.Gly80Arg Polymorphism - - HLA-A P30443 VAR_016720 p.Met91Val Polymorphism - - HLA-A P30443 VAR_016721 p.Ala100Glu Polymorphism - - HLA-A P30443 VAR_016722 p.Asp114Ala Polymorphism - - HLA-A P30443 VAR_016723 p.Ile121Met Polymorphism - - HLA-A P30443 VAR_016724 p.Arg180Leu Polymorphism - - HLA-A P30443 VAR_016725 p.Val182Ala Polymorphism - - HLA-A P30443 VAR_056247 p.Arg89Gly Polymorphism rs1059459 - HLA-A P30443 VAR_056248 p.Gly131Trp Polymorphism rs1136702 - HLA-A P30443 VAR_056249 p.Phe133Leu Polymorphism rs1059488 - HLA-A P30443 VAR_056250 p.Asn151Lys Polymorphism rs1059509 - HLA-A P30443 VAR_056251 p.Ile166Thr Polymorphism rs1059516 - HLA-A P30443 VAR_056252 p.Arg169His Polymorphism rs1059520 - HLA-A P30443 VAR_056253 p.Arg205His Polymorphism rs17185861 - HLA-A P30447 VAR_016606 p.Tyr31Cys Polymorphism - - HLA-A P30447 VAR_016607 p.Lys151Asn Polymorphism - - HLA-A P30447 VAR_016608 p.Leu180Trp Polymorphism - - HLA-A P30447 VAR_056262 p.Arg205His Polymorphism rs17185861 - HLA-A P30450 VAR_004363 p.Arg187Leu Polymorphism - - HLA-A P30450 VAR_004364 p.Asp140Asn Polymorphism - - HLA-A P30450 VAR_014603 p.Ile306Val Polymorphism rs1136949 - HLA-A P30450 VAR_016341 p.Phe60Leu Polymorphism - - HLA-A P30450 VAR_016343 p.Asn90Lys Polymorphism - - HLA-A P30450 VAR_016344 p.Ala100Glu Polymorphism - - HLA-A P30450 VAR_016345 p.Glu176Val Polymorphism - - HLA-A P30450 VAR_016346 p.Trp180Gln Polymorphism - - HLA-A P30450 VAR_050321 p.Arg89Gly Polymorphism rs1059459 - HLA-A P30450 VAR_050322 p.His94Gln Polymorphism rs1059463 - HLA-A P30450 VAR_050323 p.Asn101Asp Polymorphism rs1136688 - HLA-A P30450 VAR_050324 p.Pro129Ser Polymorphism rs1136700 - HLA-A P30450 VAR_050325 p.Gly131Trp Polymorphism rs1136702 - HLA-A P30450 VAR_050326 p.Phe133Leu Polymorphism rs1059488 - HLA-A P30450 VAR_050327 p.Asn151Lys Polymorphism rs1059509 - HLA-A P30450 VAR_050328 p.Ile166Thr Polymorphism rs1059516 - HLA-A P30450 VAR_050329 p.Arg169His Polymorphism rs1059520 - HLA-A P30450 VAR_050330 p.Trp180Arg Polymorphism rs9260155 - HLA-A P30450 VAR_050331 p.Glu185Asp Polymorphism rs1059542 - HLA-A P30453 VAR_004379 p.Ile3Val Polymorphism - - HLA-A P30453 VAR_004380 p.Lys90Asn Polymorphism - - HLA-A P30453 VAR_004381 p.Arg121Ile Polymorphism - - HLA-A P30453 VAR_004382 p.Pro129Ser Polymorphism - - HLA-A P30453 VAR_004383 p.Gln138Arg Polymorphism - - HLA-A P30453 VAR_004384 p.Trp180Leu Polymorphism - - HLA-A P30453 VAR_004385 p.Leu312Ile Polymorphism - - HLA-A P30453 VAR_056288 p.Asp101Asn Polymorphism rs1136688 - HLA-A P30453 VAR_056289 p.Asn151Lys Polymorphism rs1059509 - HLA-A P30453 VAR_056290 p.Ile166Thr Polymorphism rs1059516 - HLA-A P30455 VAR_016610 p.Val182Ala Polymorphism - - HLA-A P30455 VAR_016611 p.Glu185Asp Polymorphism - - HLA-A P30455 VAR_056291 p.Arg89Gly Polymorphism rs1059459 - HLA-A P30455 VAR_056292 p.Gly131Trp Polymorphism rs1136702 - HLA-A P30455 VAR_056293 p.Phe133Leu Polymorphism rs1059488 - HLA-A P30455 VAR_056294 p.Asn151Lys Polymorphism rs1059509 - HLA-A P30455 VAR_056295 p.Ile166Thr Polymorphism rs1059516 - HLA-A P30455 VAR_056296 p.Arg169His Polymorphism rs1059520 - HLA-A P30455 VAR_056297 p.Arg205His Polymorphism rs17185861 - HLA-A P30456 VAR_056298 p.Asn151Lys Polymorphism rs1059509 - HLA-A P30456 VAR_056299 p.Ile166Thr Polymorphism rs1059516 - HLA-A P30457 VAR_004386 p.Ser28Trp Polymorphism - - HLA-A P30457 VAR_004387 p.Asp114Ala Polymorphism - - HLA-A P30457 VAR_004388 p.Arg187Glu Polymorphism - - HLA-A P30457 VAR_056300 p.Arg89Gly Polymorphism rs1059459 - HLA-A P30457 VAR_056301 p.Asp101Asn Polymorphism rs1136688 - HLA-A P30457 VAR_056302 p.Asn151Lys Polymorphism rs1059509 - HLA-A P30457 VAR_056303 p.Ile166Thr Polymorphism rs1059516 - HLA-A P30459 VAR_010375 p.Arg23Trp Polymorphism rs41564012 - HLA-A P30459 VAR_016612 p.Gln86Gly Polymorphism - - HLA-A P30459 VAR_016613 p.Asn90Lys Polymorphism - - HLA-A P30459 VAR_016614 p.Thr97Ala Polymorphism - - HLA-A P30459 VAR_016615 p.Gly103Ala Polymorphism - - HLA-A P30459 VAR_056310 p.Arg89Gly Polymorphism rs1059459 - HLA-A P30459 VAR_056311 p.Asn151Lys Polymorphism rs1059509 - HLA-A P30459 VAR_056312 p.Ile166Thr Polymorphism rs1059516 - HLA-A P30512 VAR_004365 p.His126Asp Polymorphism - - HLA-A P30512 VAR_016347 p.Asn90His Polymorphism - - HLA-A P30512 VAR_056266 p.Ser129Pro Polymorphism rs1136700 - HLA-A P30512 VAR_056267 p.Gly131Trp Polymorphism rs1136702 - HLA-A P30512 VAR_056268 p.Phe133Leu Polymorphism rs1059488 - HLA-A P30512 VAR_056269 p.Asn151Lys Polymorphism rs1059509 - HLA-A P30512 VAR_056270 p.Ile166Thr Polymorphism rs1059516 - HLA-A Q09160 VAR_056313 p.Ile121Met Polymorphism rs1136695 - HLA-A Q09160 VAR_056314 p.Ser129Pro Polymorphism rs1136700 - HLA-A Q09160 VAR_056315 p.Gly131Trp Polymorphism rs1136702 - HLA-A Q09160 VAR_056316 p.Phe133Leu Polymorphism rs1059488 - HLA-A Q09160 VAR_056317 p.Asn151Lys Polymorphism rs1059509 - HLA-A Q09160 VAR_056318 p.Ile166Thr Polymorphism rs1059516 - HLA-A Q09160 VAR_056319 p.Arg169His Polymorphism rs1059520 - HLA-A Q09160 VAR_056320 p.Arg205His Polymorphism rs17185861 - HLA-B P01889 VAR_016353 p.Ser121Arg Polymorphism - - HLA-B P01889 VAR_016354 p.Asp138Asn Polymorphism - - HLA-B P01889 VAR_016355 p.Arg180Asp Polymorphism - - HLA-B P01889 VAR_016356 p.Val306Ile Polymorphism rs1131500 - HLA-B P01889 VAR_016616 p.Glu187Leu Polymorphism - - HLA-B P01889 VAR_050332 p.Met4Thr Polymorphism rs1050458 - HLA-B P01889 VAR_050333 p.Val9Leu Polymorphism rs1050462 - HLA-B P01889 VAR_050334 p.Leu17Val Polymorphism rs1131165 - HLA-B P01889 VAR_050335 p.Ser35Ala Polymorphism rs1131170 - HLA-B P01889 VAR_050336 p.Val36Met Polymorphism rs1050486 - HLA-B P01889 VAR_050337 p.Ala65Thr Polymorphism rs1050529 - HLA-B P01889 VAR_050338 p.Asn87Asp Polymorphism rs1050570 - HLA-B P01889 VAR_050339 p.Thr97Ala Polymorphism rs1050393 - HLA-B P01889 VAR_050340 p.Ser101Asn Polymorphism rs1050388 - HLA-B P01889 VAR_050341 p.His137Tyr Polymorphism rs1050379 - HLA-B P01889 VAR_050342 p.Arg155Ser Polymorphism rs1050654 - HLA-B P01889 VAR_050343 p.Tyr195His Polymorphism rs1050696 - HLA-B P01889 VAR_050344 p.Ala329Thr Polymorphism rs1051488 - HLA-B P01889 VAR_059467 p.Asn87Lys Polymorphism rs1065386 - HLA-B P01889 VAR_059468 p.Asp98Tyr Polymorphism rs1131215 - HLA-B P01889 VAR_059469 p.Glu187Ala Polymorphism rs2308466 - HLA-B P01889 VAR_059470 p.Glu187Gly Polymorphism rs2308466 - HLA-B P01889 VAR_059471 p.Glu187Lys Polymorphism rs2523600 - HLA-B P01889 VAR_059472 p.Glu187Gln Polymorphism rs2523600 - HLA-B P01889 VAR_059473 p.Glu187Val Polymorphism rs2308466 - HLA-B P01889 VAR_061386 p.Ser48Ala Polymorphism rs713031 - HLA-B P01889 VAR_061387 p.Ser48Pro Polymorphism rs713031 - HLA-B P01889 VAR_061388 p.Ser48Thr Polymorphism rs713031 - HLA-B P01889 VAR_061389 p.Asp138His Polymorphism rs709055 - HLA-B P01889 VAR_061390 p.Cys349Ser Polymorphism rs2308655 - HLA-B P01889 VAR_061391 p.Cys349Tyr Polymorphism rs2308655 - HLA-B P03989 VAR_016379 p.Tyr83His Polymorphism - - HLA-B P03989 VAR_016380 p.Asp101Asn Polymorphism - - HLA-B P03989 VAR_016381 p.Asp101Ser Polymorphism - - HLA-B P03989 VAR_016383 p.Thr104Asn Polymorphism - - HLA-B P03989 VAR_016385 p.Asn121Ser Polymorphism - - HLA-B P03989 VAR_016387 p.His138Asp Polymorphism - - HLA-B P03989 VAR_016388 p.Asp140His Polymorphism - - HLA-B P03989 VAR_016389 p.Asp140Tyr Polymorphism - - HLA-B P03989 VAR_016390 p.Ser155Arg Polymorphism - - HLA-B P03989 VAR_016391 p.Val176Glu Polymorphism - - HLA-B P03989 VAR_016392 p.Ala235Gly Polymorphism - - HLA-B P03989 VAR_056341 p.Ala65Thr Polymorphism rs1050529 - HLA-B P03989 VAR_056342 p.Val306Ile Polymorphism rs1131500 - HLA-B P03989 VAR_056343 p.Ala329Thr Polymorphism rs1051488 - HLA-B P03989 VAR_061402 p.Cys349Ser Polymorphism rs2308655 - HLA-B P03989 VAR_061403 p.Cys349Tyr Polymorphism rs2308655 - HLA-B P10319 VAR_016498 p.Gly86Glu Polymorphism - - HLA-B P10319 VAR_016500 p.Arg121Trp Polymorphism - - HLA-B P10319 VAR_016666 p.Trp171Leu Polymorphism - - HLA-B P10319 VAR_016667 p.Val176Ala Polymorphism - - HLA-B P10319 VAR_016668 p.Leu187Thr Polymorphism - - HLA-B P18463 VAR_016408 p.Thr104Asn Polymorphism - - HLA-B P18463 VAR_016410 p.Tyr195His Polymorphism - - HLA-B P18463 VAR_056344 p.Ser35Ala Polymorphism rs1131170 - HLA-B P18463 VAR_056345 p.Val36Met Polymorphism rs1050486 - HLA-B P18463 VAR_056346 p.Ala65Thr Polymorphism rs1050529 - HLA-B P18463 VAR_061404 p.Ser48Ala Polymorphism rs713031 - HLA-B P18463 VAR_061405 p.Ser48Pro Polymorphism rs713031 - HLA-B P18463 VAR_061406 p.Ser48Thr Polymorphism rs713031 - HLA-B P18464 VAR_016479 p.Glu176Val Polymorphism - - HLA-B P18464 VAR_016480 p.Leu180Asp Polymorphism - - HLA-B P18464 VAR_016481 p.Trp191Gly Polymorphism - - HLA-B P18464 VAR_016482 p.His195Tyr Polymorphism - - HLA-B P18464 VAR_017442 p.Ser155Arg Polymorphism - - HLA-B P18465 VAR_016495 p.Asp138Asn Polymorphism - - HLA-B P18465 VAR_016496 p.Ser140Tyr Polymorphism - - HLA-B P18465 VAR_016497 p.Leu180Arg Polymorphism - - HLA-B P18465 VAR_016669 p.Val121Arg Polymorphism - - HLA-B P18465 VAR_016670 p.Val127Leu Polymorphism - - HLA-B P18465 VAR_016671 p.His137Tyr Polymorphism - - HLA-B P18465 VAR_056416 p.Val306Ile Polymorphism rs1131500 - HLA-B P18465 VAR_056417 p.Ala329Thr Polymorphism rs1051488 - HLA-B P18465 VAR_061431 p.Cys349Ser Polymorphism rs2308655 - HLA-B P18465 VAR_061432 p.Cys349Tyr Polymorphism rs2308655 - HLA-B P30460 VAR_016502 p.Asn87Asp Polymorphism rs1050570 - HLA-B P30460 VAR_016503 p.Phe91Ser Polymorphism - - HLA-B P30460 VAR_016504 p.Ser101Asn Polymorphism rs1050388 - HLA-B P30460 VAR_016505 p.Leu119Trp Polymorphism - - HLA-B P30460 VAR_016506 p.Ser121Arg Polymorphism - - HLA-B P30460 VAR_016507 p.Ser121Thr Polymorphism - - HLA-B P30460 VAR_016508 p.Asn138Asp Polymorphism - - HLA-B P30460 VAR_016509 p.Val176Glu Polymorphism - - HLA-B P30460 VAR_016510 p.Asp180Leu Polymorphism - - HLA-B P30460 VAR_016511 p.Asp180Arg Polymorphism - - HLA-B P30460 VAR_016520 p.Tyr140Asp Polymorphism - - HLA-B P30460 VAR_056321 p.Met4Thr Polymorphism rs1050458 - HLA-B P30460 VAR_056322 p.Val9Leu Polymorphism rs1050462 - HLA-B P30460 VAR_056323 p.Leu17Val Polymorphism rs1131165 - HLA-B P30460 VAR_056324 p.Ala65Thr Polymorphism rs1050529 - HLA-B P30460 VAR_056325 p.Thr97Ala Polymorphism rs1050393 - HLA-B P30460 VAR_056326 p.His137Tyr Polymorphism rs1050379 - HLA-B P30460 VAR_056327 p.Arg155Ser Polymorphism rs1050654 - HLA-B P30460 VAR_056328 p.Val306Ile Polymorphism rs1131500 - HLA-B P30460 VAR_056329 p.Ala329Thr Polymorphism rs1051488 - HLA-B P30460 VAR_059474 p.Asn87Lys Polymorphism rs1065386 - HLA-B P30460 VAR_059475 p.Asp98Tyr Polymorphism rs1131215 - HLA-B P30460 VAR_061392 p.Ser48Ala Polymorphism rs713031 - HLA-B P30460 VAR_061393 p.Ser48Pro Polymorphism rs713031 - HLA-B P30460 VAR_061394 p.Ser48Thr Polymorphism rs713031 - HLA-B P30460 VAR_061395 p.Cys349Ser Polymorphism rs2308655 - HLA-B P30460 VAR_061396 p.Cys349Tyr Polymorphism rs2308655 - HLA-B P30461 VAR_016358 p.Thr121Arg Polymorphism - - HLA-B P30461 VAR_016359 p.Tyr183Cys Polymorphism - - HLA-B P30461 VAR_016360 p.Asn138Asp Polymorphism - - HLA-B P30461 VAR_016361 p.Leu140Ser Polymorphism - - HLA-B P30461 VAR_016362 p.Leu169Arg Polymorphism - - HLA-B P30461 VAR_016363 p.Glu187Leu Polymorphism - - HLA-B P30461 VAR_056330 p.Val306Ile Polymorphism rs1131500 - HLA-B P30461 VAR_056331 p.Ala329Thr Polymorphism rs1051488 - HLA-B P30461 VAR_061397 p.Cys349Ser Polymorphism rs2308655 - HLA-B P30461 VAR_061398 p.Cys349Tyr Polymorphism rs2308655 - HLA-B P30462 VAR_016364 p.Ser35Ala Polymorphism rs1131170 - HLA-B P30462 VAR_016654 p.Leu180Arg Polymorphism - - HLA-B P30462 VAR_056332 p.Met4Thr Polymorphism rs1050458 - HLA-B P30462 VAR_056333 p.Val9Leu Polymorphism rs1050462 - HLA-B P30462 VAR_056334 p.Leu17Val Polymorphism rs1131165 - HLA-B P30462 VAR_056335 p.Val36Met Polymorphism rs1050486 - HLA-B P30462 VAR_056336 p.Ala65Thr Polymorphism rs1050529 - HLA-B P30462 VAR_056337 p.Asn87Asp Polymorphism rs1050570 - HLA-B P30462 VAR_056338 p.Thr97Ala Polymorphism rs1050393 - HLA-B P30462 VAR_056339 p.Val306Ile Polymorphism rs1131500 - HLA-B P30462 VAR_056340 p.Ala329Thr Polymorphism rs1051488 - HLA-B P30462 VAR_059476 p.Asn87Lys Polymorphism rs1065386 - HLA-B P30462 VAR_059477 p.Asp98Tyr Polymorphism rs1131215 - HLA-B P30462 VAR_061399 p.Ser48Ala Polymorphism rs713031 - HLA-B P30462 VAR_061400 p.Ser48Pro Polymorphism rs713031 - HLA-B P30462 VAR_061401 p.Ser48Thr Polymorphism rs713031 - HLA-B P30464 VAR_016365 p.Ala48Ser Polymorphism - - HLA-B P30464 VAR_016367 p.Glu87Asn Polymorphism - - HLA-B P30464 VAR_016368 p.Ser91Cys Polymorphism - - HLA-B P30464 VAR_016369 p.Ser91Tyr Polymorphism - - HLA-B P30464 VAR_016371 p.Leu119Trp Polymorphism - - HLA-B P30464 VAR_016372 p.Arg121Thr Polymorphism - - HLA-B P30464 VAR_016373 p.His137Tyr Polymorphism - - HLA-B P30464 VAR_016374 p.Trp180Leu Polymorphism - - HLA-B P30464 VAR_016376 p.Pro274Leu Polymorphism - - HLA-B P30466 VAR_016377 p.Tyr98Asp Polymorphism - - HLA-B P30466 VAR_016378 p.Arg121Asn Polymorphism - - HLA-B P30466 VAR_016661 p.Asn87Glu Polymorphism - - HLA-B P30466 VAR_016662 p.Ser91Phe Polymorphism - - HLA-B P30466 VAR_016663 p.Leu180Arg Polymorphism - - HLA-B P30466 VAR_016664 p.Thr187Glu Polymorphism - - HLA-B P30466 VAR_016665 p.His195Tyr Polymorphism - - HLA-B P30475 VAR_016421 p.Ser35Ala Polymorphism rs1131170 - HLA-B P30475 VAR_016422 p.Asn87Glu Polymorphism - - HLA-B P30475 VAR_016423 p.Cys91Ser Polymorphism - - HLA-B P30475 VAR_016424 p.Cys91Tyr Polymorphism - - HLA-B P30475 VAR_016425 p.Asp98Tyr Polymorphism rs1131215 - HLA-B P30475 VAR_016426 p.Leu119Trp Polymorphism - - HLA-B P30475 VAR_016427 p.Arg121Ser Polymorphism - - HLA-B P30475 VAR_016428 p.Arg121Thr Polymorphism - - HLA-B P30475 VAR_016429 p.Met122Thr Polymorphism - - HLA-B P30475 VAR_016430 p.Tyr123Ser Polymorphism - - HLA-B P30475 VAR_016431 p.Asn138Asp Polymorphism - - HLA-B P30475 VAR_016432 p.Phe140Ser Polymorphism - - HLA-B P30475 VAR_016433 p.Gln168Arg Polymorphism - - HLA-B P30475 VAR_016434 p.Leu180Arg Polymorphism - - HLA-B P30475 VAR_016659 p.Tyr33Asp Polymorphism - - HLA-B P30475 VAR_016660 p.Val36Met Polymorphism rs1050486 - HLA-B P30475 VAR_056355 p.Met4Thr Polymorphism rs1050458 - HLA-B P30475 VAR_056356 p.Val9Leu Polymorphism rs1050462 - HLA-B P30475 VAR_056357 p.Leu17Val Polymorphism rs1131165 - HLA-B P30475 VAR_056358 p.Ala65Thr Polymorphism rs1050529 - HLA-B P30475 VAR_056359 p.Asn87Asp Polymorphism rs1050570 - HLA-B P30475 VAR_056360 p.Thr97Ala Polymorphism rs1050393 - HLA-B P30475 VAR_056361 p.Val306Ile Polymorphism rs1131500 - HLA-B P30475 VAR_056362 p.Ala329Thr Polymorphism rs1051488 - HLA-B P30475 VAR_059479 p.Asn87Lys Polymorphism rs1065386 - HLA-B P30475 VAR_061410 p.Ser48Ala Polymorphism rs713031 - HLA-B P30475 VAR_061411 p.Ser48Pro Polymorphism rs713031 - HLA-B P30475 VAR_061412 p.Ser48Thr Polymorphism rs713031 - HLA-B P30479 VAR_016455 p.Trp119Leu Polymorphism - - HLA-B P30479 VAR_016456 p.Arg121Ser Polymorphism - - HLA-B P30479 VAR_016457 p.Val127Leu Polymorphism - - HLA-B P30479 VAR_016458 p.Asn138Asp Polymorphism - - HLA-B P30479 VAR_016459 p.Asn104Lys Polymorphism - - HLA-B P30479 VAR_056367 p.Val9Leu Polymorphism rs1050462 - HLA-B P30479 VAR_056368 p.Leu17Val Polymorphism rs1131165 - HLA-B P30479 VAR_056369 p.Arg155Ser Polymorphism rs1050654 - HLA-B P30479 VAR_056370 p.Val306Ile Polymorphism rs1131500 - HLA-B P30479 VAR_056371 p.Ala329Thr Polymorphism rs1051488 - HLA-B P30479 VAR_061415 p.Cys349Ser Polymorphism rs2308655 - HLA-B P30479 VAR_061416 p.Cys349Tyr Polymorphism rs2308655 - HLA-B P30480 VAR_016460 p.Tyr33His Polymorphism - - HLA-B P30480 VAR_056372 p.Met4Thr Polymorphism rs1050458 - HLA-B P30480 VAR_056373 p.Val9Leu Polymorphism rs1050462 - HLA-B P30480 VAR_056374 p.Leu17Val Polymorphism rs1131165 - HLA-B P30480 VAR_056375 p.Ser35Ala Polymorphism rs1131170 - HLA-B P30480 VAR_056376 p.Val36Met Polymorphism rs1050486 - HLA-B P30480 VAR_056377 p.Ala65Thr Polymorphism rs1050529 - HLA-B P30480 VAR_056378 p.Asn87Asp Polymorphism rs1050570 - HLA-B P30480 VAR_056379 p.Thr97Ala Polymorphism rs1050393 - HLA-B P30480 VAR_056380 p.Ser101Asn Polymorphism rs1050388 - HLA-B P30480 VAR_056381 p.His137Tyr Polymorphism rs1050379 - HLA-B P30480 VAR_056382 p.Arg155Ser Polymorphism rs1050654 - HLA-B P30480 VAR_056383 p.Val306Ile Polymorphism rs1131500 - HLA-B P30480 VAR_056384 p.Ala329Thr Polymorphism rs1051488 - HLA-B P30480 VAR_059480 p.Asn87Lys Polymorphism rs1065386 - HLA-B P30480 VAR_059481 p.Asp98Tyr Polymorphism rs1131215 - HLA-B P30480 VAR_061417 p.Ser48Ala Polymorphism rs713031 - HLA-B P30480 VAR_061418 p.Ser48Pro Polymorphism rs713031 - HLA-B P30480 VAR_061419 p.Ser48Thr Polymorphism rs713031 - HLA-B P30480 VAR_061420 p.Cys349Ser Polymorphism rs2308655 - HLA-B P30480 VAR_061421 p.Cys349Tyr Polymorphism rs2308655 - HLA-B P30481 VAR_016461 p.Thr65Ala Polymorphism - - HLA-B P30481 VAR_016463 p.Asp85Glu Polymorphism - - HLA-B P30481 VAR_016464 p.Glu87Asn Polymorphism - - HLA-B P30481 VAR_016465 p.Asn101Ser Polymorphism - - HLA-B P30481 VAR_016467 p.Asp140Tyr Polymorphism - - HLA-B P30481 VAR_016468 p.Asp180Leu Polymorphism - - HLA-B P30481 VAR_016469 p.Asp180Arg Polymorphism - - HLA-B P30481 VAR_016470 p.Leu187Thr Polymorphism - - HLA-B P30481 VAR_056385 p.Val306Ile Polymorphism rs1131500 - HLA-B P30481 VAR_056386 p.Ala329Thr Polymorphism rs1051488 - HLA-B P30481 VAR_061422 p.Cys349Ser Polymorphism rs2308655 - HLA-B P30483 VAR_016471 p.Gln139Arg Polymorphism - - HLA-B P30483 VAR_016472 p.Ser191Trp Polymorphism - - HLA-B P30483 VAR_056387 p.Val9Leu Polymorphism rs1050462 - HLA-B P30483 VAR_056388 p.Leu17Val Polymorphism rs1131165 - HLA-B P30484 VAR_016473 p.Asp98Gly Polymorphism - - HLA-B P30485 VAR_016474 p.Asp101Ser Polymorphism - - HLA-B P30485 VAR_016475 p.Thr104Asn Polymorphism - - HLA-B P30485 VAR_056389 p.Val306Ile Polymorphism rs1131500 - HLA-B P30485 VAR_056390 p.Ala329Thr Polymorphism rs1051488 - HLA-B P30485 VAR_061424 p.Cys349Ser Polymorphism rs2308655 - HLA-B P30485 VAR_061425 p.Cys349Tyr Polymorphism rs2308655 - HLA-B P30486 VAR_016477 p.Ser121Arg Polymorphism - - HLA-B P30486 VAR_056391 p.Met4Thr Polymorphism rs1050458 - HLA-B P30486 VAR_056392 p.Val9Leu Polymorphism rs1050462 - HLA-B P30486 VAR_056393 p.Leu17Val Polymorphism rs1131165 - HLA-B P30486 VAR_056394 p.Ser35Ala Polymorphism rs1131170 - HLA-B P30486 VAR_056395 p.Val36Met Polymorphism rs1050486 - HLA-B P30486 VAR_056396 p.Ala65Thr Polymorphism rs1050529 - HLA-B P30486 VAR_056397 p.Ser101Asn Polymorphism rs1050388 - HLA-B P30486 VAR_056398 p.His137Tyr Polymorphism rs1050379 - HLA-B P30486 VAR_056399 p.Arg155Ser Polymorphism rs1050654 - HLA-B P30486 VAR_056400 p.Tyr195His Polymorphism rs1050696 - HLA-B P30486 VAR_056401 p.Val306Ile Polymorphism rs1131500 - HLA-B P30486 VAR_056402 p.Ala329Thr Polymorphism rs1051488 - HLA-B P30486 VAR_059482 p.Glu187Ala Polymorphism rs2308466 - HLA-B P30486 VAR_059483 p.Glu187Gly Polymorphism rs2308466 - HLA-B P30486 VAR_059484 p.Glu187Lys Polymorphism rs2523600 - HLA-B P30486 VAR_059485 p.Glu187Gln Polymorphism rs2523600 - HLA-B P30486 VAR_059486 p.Glu187Val Polymorphism rs2308466 - HLA-B P30486 VAR_061426 p.Ser48Ala Polymorphism rs713031 - HLA-B P30486 VAR_061427 p.Ser48Pro Polymorphism rs713031 - HLA-B P30486 VAR_061428 p.Ser48Thr Polymorphism rs713031 - HLA-B P30486 VAR_061429 p.Cys349Ser Polymorphism rs2308655 - HLA-B P30486 VAR_061430 p.Cys349Tyr Polymorphism rs2308655 - HLA-B P30487 VAR_016512 p.Thr48Ala Polymorphism - - HLA-B P30487 VAR_016513 p.Leu56Gln Polymorphism - - HLA-B P30487 VAR_016514 p.Thr65Ala Polymorphism - - HLA-B P30487 VAR_016515 p.Lys69Thr Polymorphism - - HLA-B P30487 VAR_016516 p.Ile104Thr Polymorphism - - HLA-B P30487 VAR_056403 p.Val9Leu Polymorphism rs1050462 - HLA-B P30487 VAR_056404 p.Leu17Val Polymorphism rs1131165 - HLA-B P30488 VAR_016517 p.Leu127Val Polymorphism - - HLA-B P30488 VAR_016518 p.Trp191Ser Polymorphism - - HLA-B P30488 VAR_056405 p.Val9Leu Polymorphism rs1050462 - HLA-B P30488 VAR_056406 p.Leu17Val Polymorphism rs1131165 - HLA-B P30490 VAR_016522 p.Glu176Val Polymorphism - - HLA-B P30490 VAR_016523 p.His195Tyr Polymorphism - - HLA-B P30491 VAR_016524 p.Asn101Asp Polymorphism - - HLA-B P30491 VAR_016525 p.Asn101Ser Polymorphism - - HLA-B P30491 VAR_016527 p.Ile118Thr Polymorphism - - HLA-B P30491 VAR_016528 p.Tyr123Ser Polymorphism - - HLA-B P30491 VAR_016529 p.Leu127Val Polymorphism - - HLA-B P30491 VAR_016531 p.Ser140Phe Polymorphism - - HLA-B P30491 VAR_016532 p.Val176Glu Polymorphism - - HLA-B P30491 VAR_016533 p.Tyr195His Polymorphism - - HLA-B P30492 VAR_016534 p.Tyr33His Polymorphism - - HLA-B P30492 VAR_056407 p.Asn87Asp Polymorphism rs1050570 - HLA-B P30492 VAR_056408 p.Thr97Ala Polymorphism rs1050393 - HLA-B P30492 VAR_056409 p.Ser101Asn Polymorphism rs1050388 - HLA-B P30492 VAR_059487 p.Asn87Lys Polymorphism rs1065386 - HLA-B P30492 VAR_059488 p.Asp98Tyr Polymorphism rs1131215 - HLA-B P30493 VAR_016483 p.Glu82Ala Polymorphism - - HLA-B P30493 VAR_016484 p.Ser101Asn Polymorphism rs1050388 - HLA-B P30493 VAR_016485 p.Glu176Val Polymorphism - - HLA-B P30493 VAR_016698 p.Trp119Leu Polymorphism - - HLA-B P30493 VAR_016699 p.Thr121Arg Polymorphism - - HLA-B P30493 VAR_016700 p.Thr121Ser Polymorphism - - HLA-B P30493 VAR_016701 p.Leu127Val Polymorphism - - HLA-B P30493 VAR_016702 p.Leu140Tyr Polymorphism - - HLA-B P30493 VAR_016703 p.Ser155Arg Polymorphism - - HLA-B P30493 VAR_016704 p.Leu180Arg Polymorphism - - HLA-B P30493 VAR_016705 p.Thr187Glu Polymorphism - - HLA-B P30493 VAR_016706 p.Thr187Leu Polymorphism - - HLA-B P30493 VAR_056410 p.Ala65Thr Polymorphism rs1050529 - HLA-B P30493 VAR_056411 p.Asn87Asp Polymorphism rs1050570 - HLA-B P30493 VAR_056412 p.Thr97Ala Polymorphism rs1050393 - HLA-B P30493 VAR_059489 p.Asn87Lys Polymorphism rs1065386 - HLA-B P30493 VAR_059490 p.Asp98Tyr Polymorphism rs1131215 - HLA-B P30495 VAR_016486 p.Glu69Thr Polymorphism - - HLA-B P30495 VAR_016487 p.Ser101Asn Polymorphism rs1050388 - HLA-B P30495 VAR_016489 p.Trp119Leu Polymorphism - - HLA-B P30495 VAR_016490 p.Thr121Arg Polymorphism - - HLA-B P30495 VAR_016491 p.Leu127Val Polymorphism - - HLA-B P30495 VAR_016492 p.Leu140Tyr Polymorphism - - HLA-B P30495 VAR_016493 p.Val176Glu Polymorphism - - HLA-B P30495 VAR_016494 p.Tyr195His Polymorphism - - HLA-B P30495 VAR_016707 p.Asn138Asp Polymorphism - - HLA-B P30495 VAR_016708 p.Leu140Ser Polymorphism - - HLA-B P30495 VAR_016709 p.Leu180Trp Polymorphism - - HLA-B P30495 VAR_056413 p.Ala65Thr Polymorphism rs1050529 - HLA-B P30495 VAR_056414 p.Asn87Asp Polymorphism rs1050570 - HLA-B P30495 VAR_056415 p.Thr97Ala Polymorphism rs1050393 - HLA-B P30495 VAR_059491 p.Asn87Lys Polymorphism rs1065386 - HLA-B P30495 VAR_059492 p.Asp98Tyr Polymorphism rs1131215 - HLA-B P30498 VAR_016501 p.Asp98Tyr Polymorphism - - HLA-B P30498 VAR_016672 p.Phe91Cys Polymorphism - - HLA-B P30498 VAR_056436 p.Thr97Ala Polymorphism rs1050393 - HLA-B P30685 VAR_016393 p.Gly40Val Polymorphism - - HLA-B P30685 VAR_016394 p.Ala48Ser Polymorphism - - HLA-B P30685 VAR_016395 p.Thr69Glu Polymorphism - - HLA-B P30685 VAR_016396 p.Asn87Glu Polymorphism - - HLA-B P30685 VAR_016397 p.Phe91Ser Polymorphism - - HLA-B P30685 VAR_016398 p.Tyr98Asp Polymorphism - - HLA-B P30685 VAR_016399 p.Gly107Asp Polymorphism - - HLA-B P30685 VAR_016401 p.Arg121Ser Polymorphism - - HLA-B P30685 VAR_016402 p.Leu127Val Polymorphism - - HLA-B P30685 VAR_016403 p.Leu133Phe Polymorphism - - HLA-B P30685 VAR_016404 p.Asp138Asn Polymorphism - - HLA-B P30685 VAR_016405 p.Ser140Phe Polymorphism - - HLA-B P30685 VAR_016406 p.Ser140Tyr Polymorphism - - HLA-B P30685 VAR_016407 p.Leu180Arg Polymorphism - - HLA-B Q04826 VAR_016435 p.Leu9Val Polymorphism - - HLA-B Q04826 VAR_016437 p.Val17Leu Polymorphism - - HLA-B Q04826 VAR_016439 p.Glu87Asn Polymorphism - - HLA-B Q04826 VAR_016440 p.Ser91Phe Polymorphism - - HLA-B Q04826 VAR_016442 p.Leu119Trp Polymorphism - - HLA-B Q04826 VAR_016443 p.Ser121Arg Polymorphism - - HLA-B Q04826 VAR_016444 p.Ser121Thr Polymorphism - - HLA-B Q04826 VAR_016445 p.Val127Leu Polymorphism - - HLA-B Q04826 VAR_016446 p.Asn138Asp Polymorphism - - HLA-B Q04826 VAR_016447 p.Tyr140Asn Polymorphism - - HLA-B Q04826 VAR_016448 p.Tyr140Ser Polymorphism - - HLA-B Q04826 VAR_016449 p.Thr167Ser Polymorphism - - HLA-B Q04826 VAR_016450 p.Trp171Leu Polymorphism - - HLA-B Q04826 VAR_016451 p.Val176Glu Polymorphism - - HLA-B Q04826 VAR_016452 p.Glu187Leu Polymorphism - - HLA-B Q04826 VAR_016454 p.Gln204Glu Polymorphism - - HLA-B Q04826 VAR_016655 p.Leu180Arg Polymorphism - - HLA-B Q04826 VAR_016658 p.His137Tyr Polymorphism rs1050379 - HLA-B Q04826 VAR_056363 p.Ser101Asn Polymorphism rs1050388 - HLA-B Q04826 VAR_056364 p.Arg155Ser Polymorphism rs1050654 - HLA-B Q04826 VAR_056365 p.Val306Ile Polymorphism rs1131500 - HLA-B Q04826 VAR_056366 p.Ala329Thr Polymorphism rs1051488 - HLA-B Q04826 VAR_061413 p.Cys349Ser Polymorphism rs2308655 - HLA-B Q04826 VAR_061414 p.Cys349Tyr Polymorphism rs2308655 - HLA-B Q29718 VAR_016543 p.Asp186Gly Polymorphism - - HLA-B Q29718 VAR_056450 p.Ala65Thr Polymorphism rs1050529 - HLA-B Q29718 VAR_056451 p.Asn87Asp Polymorphism rs1050570 - HLA-B Q29718 VAR_056452 p.Thr97Ala Polymorphism rs1050393 - HLA-B Q29718 VAR_056453 p.Ser101Asn Polymorphism rs1050388 - HLA-B Q29718 VAR_059504 p.Asn87Lys Polymorphism rs1065386 - HLA-B Q29718 VAR_059505 p.Asp98Tyr Polymorphism rs1131215 - HLA-B Q29718 VAR_061441 p.Ser48Ala Polymorphism rs713031 - HLA-B Q29718 VAR_061442 p.Ser48Pro Polymorphism rs713031 - HLA-B Q29718 VAR_061443 p.Ser48Thr Polymorphism rs713031 - HLA-B Q29836 VAR_016536 p.Glu69Gly Polymorphism - - HLA-B Q29836 VAR_016537 p.Ile76Val Polymorphism - - HLA-B Q29836 VAR_016538 p.Asn87Glu Polymorphism - - HLA-B Q29836 VAR_016539 p.Ile90Lys Polymorphism - - HLA-B Q29836 VAR_016540 p.Ala93Arg Polymorphism - - HLA-B Q29836 VAR_016541 p.Thr97Ala Polymorphism rs1050393 - HLA-B Q29836 VAR_016542 p.Glu100Val Polymorphism - - HLA-B Q29836 VAR_056420 p.Met4Thr Polymorphism rs1050458 - HLA-B Q29836 VAR_056421 p.Val9Leu Polymorphism rs1050462 - HLA-B Q29836 VAR_056422 p.Leu17Val Polymorphism rs1131165 - HLA-B Q29836 VAR_056423 p.Ser35Ala Polymorphism rs1131170 - HLA-B Q29836 VAR_056424 p.Val36Met Polymorphism rs1050486 - HLA-B Q29836 VAR_056425 p.Ala65Thr Polymorphism rs1050529 - HLA-B Q29836 VAR_056426 p.Asn87Asp Polymorphism rs1050570 - HLA-B Q29836 VAR_056427 p.Ser101Asn Polymorphism rs1050388 - HLA-B Q29836 VAR_056428 p.Val306Ile Polymorphism rs1131500 - HLA-B Q29836 VAR_056429 p.Ala329Thr Polymorphism rs1051488 - HLA-B Q29836 VAR_059494 p.Asn87Lys Polymorphism rs1065386 - HLA-B Q29836 VAR_059495 p.Asp98Tyr Polymorphism rs1131215 - HLA-B Q29836 VAR_061433 p.Ser48Ala Polymorphism rs713031 - HLA-B Q29836 VAR_061434 p.Ser48Pro Polymorphism rs713031 - HLA-B Q29836 VAR_061435 p.Ser48Thr Polymorphism rs713031 - HLA-B Q29940 VAR_056418 p.Ala65Thr Polymorphism rs1050529 - HLA-B Q29940 VAR_056419 p.Asn87Asp Polymorphism rs1050570 - HLA-B Q29940 VAR_059493 p.Asn87Lys Polymorphism rs1065386 - HLA-B Q31610 VAR_056437 p.Met4Thr Polymorphism rs1050458 - HLA-B Q31610 VAR_056438 p.Val9Leu Polymorphism rs1050462 - HLA-B Q31610 VAR_056439 p.Ser35Ala Polymorphism rs1131170 - HLA-B Q31610 VAR_056440 p.Val36Met Polymorphism rs1050486 - HLA-B Q31610 VAR_056441 p.Ala65Thr Polymorphism rs1050529 - HLA-B Q31610 VAR_056442 p.Asn87Asp Polymorphism rs1050570 - HLA-B Q31610 VAR_056443 p.Thr97Ala Polymorphism rs1050393 - HLA-B Q31610 VAR_056444 p.Ser101Asn Polymorphism rs1050388 - HLA-B Q31610 VAR_056445 p.His137Tyr Polymorphism rs1050379 - HLA-B Q31610 VAR_056446 p.Arg155Ser Polymorphism rs1050654 - HLA-B Q31610 VAR_056447 p.Tyr195His Polymorphism rs1050696 - HLA-B Q31610 VAR_056448 p.Val306Ile Polymorphism rs1131500 - HLA-B Q31610 VAR_056449 p.Ala329Thr Polymorphism rs1051488 - HLA-B Q31610 VAR_059497 p.Asn87Lys Polymorphism rs1065386 - HLA-B Q31610 VAR_059498 p.Asp98Tyr Polymorphism rs1131215 - HLA-B Q31610 VAR_059499 p.Glu187Ala Polymorphism rs2308466 - HLA-B Q31610 VAR_059500 p.Glu187Gly Polymorphism rs2308466 - HLA-B Q31610 VAR_059501 p.Glu187Lys Polymorphism rs2523600 - HLA-B Q31610 VAR_059502 p.Glu187Gln Polymorphism rs2523600 - HLA-B Q31610 VAR_059503 p.Glu187Val Polymorphism rs2308466 - HLA-B Q31610 VAR_061436 p.Ser48Ala Polymorphism rs713031 - HLA-B Q31610 VAR_061437 p.Ser48Pro Polymorphism rs713031 - HLA-B Q31610 VAR_061438 p.Ser48Thr Polymorphism rs713031 - HLA-B Q31610 VAR_061439 p.Cys349Ser Polymorphism rs2308655 - HLA-B Q31610 VAR_061440 p.Cys349Tyr Polymorphism rs2308655 - HLA-B Q31612 VAR_056430 p.Met4Thr Polymorphism rs1050458 - HLA-B Q31612 VAR_056431 p.Val9Leu Polymorphism rs1050462 - HLA-B Q31612 VAR_056432 p.Leu17Val Polymorphism rs1131165 - HLA-B Q31612 VAR_056433 p.Ala65Thr Polymorphism rs1050529 - HLA-B Q31612 VAR_056434 p.Asn87Asp Polymorphism rs1050570 - HLA-B Q31612 VAR_056435 p.Arg155Ser Polymorphism rs1050654 - HLA-B Q31612 VAR_059496 p.Asn87Lys Polymorphism rs1065386 - HLA-B Q95365 VAR_016411 p.Ser35Ala Polymorphism rs1131170 - HLA-B Q95365 VAR_016412 p.Glu69Thr Polymorphism - - HLA-B Q95365 VAR_016413 p.Glu82Gly Polymorphism - - HLA-B Q95365 VAR_016414 p.Asn87Glu Polymorphism - - HLA-B Q95365 VAR_016415 p.Cys91Phe Polymorphism - - HLA-B Q95365 VAR_016416 p.Cys91Ser Polymorphism - - HLA-B Q95365 VAR_016417 p.Tyr98Asp Polymorphism - - HLA-B Q95365 VAR_016418 p.Asn101Ser Polymorphism - - HLA-B Q95365 VAR_016419 p.Ile104Thr Polymorphism - - HLA-B Q95365 VAR_016420 p.Thr187Met Polymorphism - - HLA-B Q95365 VAR_056347 p.Met4Thr Polymorphism rs1050458 - HLA-B Q95365 VAR_056348 p.Val9Leu Polymorphism rs1050462 - HLA-B Q95365 VAR_056349 p.Leu17Val Polymorphism rs1131165 - HLA-B Q95365 VAR_056350 p.Val36Met Polymorphism rs1050486 - HLA-B Q95365 VAR_056351 p.Ala65Thr Polymorphism rs1050529 - HLA-B Q95365 VAR_056352 p.Asn87Asp Polymorphism rs1050570 - HLA-B Q95365 VAR_056353 p.Val306Ile Polymorphism rs1131500 - HLA-B Q95365 VAR_056354 p.Ala329Thr Polymorphism rs1051488 - HLA-B Q95365 VAR_059478 p.Asn87Lys Polymorphism rs1065386 - HLA-B Q95365 VAR_061407 p.Ser48Ala Polymorphism rs713031 - HLA-B Q95365 VAR_061408 p.Ser48Pro Polymorphism rs713031 - HLA-B Q95365 VAR_061409 p.Ser48Thr Polymorphism rs713031 - HLA-C P04222 VAR_016563 p.Gly115Arg Polymorphism - - HLA-C P04222 VAR_016564 p.Ile118Thr Polymorphism - - HLA-C P04222 VAR_016565 p.Ser101Asn Polymorphism - - HLA-C P04222 VAR_016566 p.Asn104Lys Polymorphism - - HLA-C P04222 VAR_016567 p.Ile119Leu Polymorphism - - HLA-C P04222 VAR_016568 p.Tyr140Ser Polymorphism - - HLA-C P04222 VAR_016569 p.Lys90Asn Polymorphism rs28626310 - HLA-C P04222 VAR_016617 p.Arg121Ser Polymorphism - - HLA-C P04222 VAR_016618 p.Val127Leu Polymorphism - - HLA-C P04222 VAR_016619 p.Asp138Val Polymorphism - - HLA-C P04222 VAR_056461 p.Ala73Glu Polymorphism rs1050409 - HLA-C P04222 VAR_056462 p.Val76Met Polymorphism rs1065382 - HLA-C P04222 VAR_056463 p.Val272Met Polymorphism rs1050276 - HLA-C P10321 VAR_016590 p.Lys90Asn Polymorphism rs28626310 - HLA-C P10321 VAR_016591 p.Ser101Asn Polymorphism rs2308557 - HLA-C P10321 VAR_016592 p.Asn104Lys Polymorphism rs17408553 - HLA-C P10321 VAR_016593 p.Leu119Phe Polymorphism - - HLA-C P10321 VAR_016594 p.Ser123Tyr Polymorphism rs1131115 - HLA-C P10321 VAR_016595 p.Ser140Phe Polymorphism - - HLA-C P10321 VAR_016596 p.Leu180Asp Polymorphism - - HLA-C P10321 VAR_016597 p.Glu201Lys Polymorphism rs1131103 - HLA-C P10321 VAR_016598 p.Met331Lys Polymorphism - - HLA-C P10321 VAR_016599 p.Ala348Val Polymorphism - - HLA-C P10321 VAR_016600 p.Thr363Ala Polymorphism - - HLA-C P10321 VAR_016646 p.Leu171Trp Polymorphism rs1050366 - HLA-C P10321 VAR_016647 p.Thr187Leu Polymorphism - - HLA-C P10321 VAR_050345 p.Glu43Lys Polymorphism rs1050438 - HLA-C P10321 VAR_050346 p.Ala73Glu Polymorphism rs1050409 - HLA-C P10321 VAR_050347 p.Val76Met Polymorphism rs1065382 - HLA-C P10321 VAR_050348 p.Ala97Thr Polymorphism rs41543814 - HLA-C P10321 VAR_050349 p.Tyr137His Polymorphism rs2308574 - HLA-C P10321 VAR_050350 p.Ala182Val Polymorphism rs1059539 - HLA-C P10321 VAR_050351 p.Val272Met Polymorphism rs1050276 - HLA-C P10321 VAR_050352 p.Val328Ile Polymorphism rs1050118 - HLA-C P10321 VAR_050353 p.Ala330Val Polymorphism rs1050105 - HLA-C P10321 VAR_050354 p.Met331Val Polymorphism rs1130935 - HLA-C P10321 VAR_059506 p.Leu10Ile Polymorphism rs2308527 - HLA-C P10321 VAR_059507 p.Ser123Cys Polymorphism rs1131115 - HLA-C P10321 VAR_059508 p.Ser123Phe Polymorphism rs1131115 - HLA-C P10321 VAR_061450 p.Ser48Ala Polymorphism rs707911 - HLA-C P10321 VAR_061451 p.Ser48Pro Polymorphism rs707911 - HLA-C P10321 VAR_061452 p.Ser48Thr Polymorphism rs707911 - HLA-C P10321 VAR_061453 p.Pro208His Polymorphism rs1131096 - HLA-C P10321 VAR_061454 p.Pro208Arg Polymorphism rs1131096 - HLA-C P10321 VAR_061455 p.Cys350Ser Polymorphism rs35708511 - HLA-C P30499 VAR_016544 p.Glu5Ala Polymorphism - - HLA-C P30499 VAR_016545 p.Asn92Lys Polymorphism - - HLA-C P30499 VAR_016546 p.Asp138Asn Polymorphism - - HLA-C P30499 VAR_016547 p.Tyr140Phe Polymorphism - - HLA-C P30499 VAR_016548 p.Tyr140Ser Polymorphism - - HLA-C P30499 VAR_016549 p.Glu179Gln Polymorphism - - HLA-C P30499 VAR_016550 p.Arg180Trp Polymorphism - - HLA-C P30499 VAR_016551 p.Ser202Thr Polymorphism - - HLA-C P30499 VAR_016552 p.Trp243Arg Polymorphism - - HLA-C P30499 VAR_016553 p.Met272Val Polymorphism - - HLA-C P30499 VAR_016554 p.Val328Met Polymorphism - - HLA-C P30499 VAR_016555 p.Ser364Cys Polymorphism - - HLA-C P30499 VAR_056454 p.Glu43Lys Polymorphism rs1050438 - HLA-C P30499 VAR_056455 p.Ala73Glu Polymorphism rs1050409 - HLA-C P30499 VAR_056456 p.Val76Met Polymorphism rs1065382 - HLA-C P30499 VAR_056457 p.Lys90Asn Polymorphism rs28626310 - HLA-C P30499 VAR_056458 p.Glu201Lys Polymorphism rs1131103 - HLA-C P30499 VAR_061444 p.Ser48Ala Polymorphism rs707911 - HLA-C P30499 VAR_061445 p.Ser48Pro Polymorphism rs707911 - HLA-C P30499 VAR_061446 p.Ser48Thr Polymorphism rs707911 - HLA-C P30501 VAR_016556 p.Glu5Ala Polymorphism - - HLA-C P30501 VAR_016557 p.Ile10Leu Polymorphism - - HLA-C P30501 VAR_016559 p.Asn92Lys Polymorphism - - HLA-C P30501 VAR_016560 p.Glu179Gln Polymorphism - - HLA-C P30501 VAR_016561 p.Lys202Thr Polymorphism - - HLA-C P30501 VAR_016562 p.Ser364Cys Polymorphism - - HLA-C P30501 VAR_056459 p.Tyr137His Polymorphism rs2308574 - HLA-C P30501 VAR_056460 p.Val272Met Polymorphism rs1050276 - HLA-C P30504 VAR_016571 p.Ser33Tyr Polymorphism - - HLA-C P30504 VAR_016572 p.Ser35Ala Polymorphism - - HLA-C P30504 VAR_016573 p.Trp38Arg Polymorphism - - HLA-C P30504 VAR_016574 p.Gly40Ser Polymorphism - - HLA-C P30504 VAR_016575 p.Arg45His Polymorphism - - HLA-C P30504 VAR_016576 p.Val52Leu Polymorphism - - HLA-C P30504 VAR_016577 p.Glu73Ala Polymorphism - - HLA-C P30504 VAR_016578 p.Arg180Leu Polymorphism - - HLA-C P30504 VAR_016579 p.Met327Val Polymorphism - - HLA-C P30504 VAR_056464 p.Val76Met Polymorphism rs1065382 - HLA-C P30504 VAR_056465 p.Lys90Asn Polymorphism rs28626310 - HLA-C P30504 VAR_056466 p.Ala97Thr Polymorphism rs41543814 - HLA-C P30504 VAR_056467 p.Ala182Val Polymorphism rs1059539 - HLA-C P30504 VAR_056468 p.Glu201Lys Polymorphism rs1131103 - HLA-C P30504 VAR_056469 p.Val272Met Polymorphism rs1050276 - HLA-C P30505 VAR_016586 p.Thr162Lys Polymorphism - - HLA-C P30505 VAR_016587 p.Thr176Glu Polymorphism - - HLA-C P30505 VAR_016588 p.Leu180Arg Polymorphism - - HLA-C P30505 VAR_016589 p.Gly199Arg Polymorphism - - HLA-C P30505 VAR_056483 p.Ala73Glu Polymorphism rs1050409 - HLA-C P30505 VAR_056484 p.Val76Met Polymorphism rs1065382 - HLA-C P30505 VAR_056485 p.Lys90Asn Polymorphism rs28626310 - HLA-C P30505 VAR_056486 p.Val272Met Polymorphism rs1050276 - HLA-C P30508 VAR_016622 p.Lys90Asn Polymorphism rs28626310 - HLA-C P30508 VAR_016623 p.Ala97Thr Polymorphism rs41543814 - HLA-C P30508 VAR_016624 p.Ser101Gly Polymorphism - - HLA-C P30508 VAR_016625 p.Ser101Asn Polymorphism rs2308557 - HLA-C P30508 VAR_016626 p.Asn104Lys Polymorphism rs17408553 - HLA-C P30508 VAR_016627 p.Arg121Trp Polymorphism - - HLA-C P30508 VAR_016628 p.Gly144Val Polymorphism - - HLA-C P30508 VAR_016629 p.Trp180Arg Polymorphism - - HLA-C P30508 VAR_054155 p.His208Pro Polymorphism - - HLA-C P30508 VAR_054156 p.Ala363Thr Polymorphism - - HLA-C P30508 VAR_056487 p.Ala73Glu Polymorphism rs1050409 - HLA-C P30508 VAR_056488 p.Val76Met Polymorphism rs1065382 - HLA-C P30508 VAR_056489 p.Tyr137His Polymorphism rs2308574 - HLA-C P30508 VAR_056490 p.Ala182Val Polymorphism rs1059539 - HLA-C P30508 VAR_056491 p.Glu201Lys Polymorphism rs1131103 - HLA-C P30508 VAR_056492 p.Val272Met Polymorphism rs1050276 - HLA-C P30510 VAR_016636 p.Arg45His Polymorphism - - HLA-C P30510 VAR_016637 p.Thr97Ala Polymorphism - - HLA-C P30510 VAR_016638 p.Ser101Asn Polymorphism - - HLA-C P30510 VAR_056493 p.Ala73Glu Polymorphism rs1050409 - HLA-C P30510 VAR_056494 p.Val76Met Polymorphism rs1065382 - HLA-C P30510 VAR_056495 p.Lys90Asn Polymorphism rs28626310 - HLA-C P30510 VAR_056496 p.Tyr137His Polymorphism rs2308574 - HLA-C P30510 VAR_056497 p.Ala182Val Polymorphism rs1059539 - HLA-C P30510 VAR_056498 p.Glu201Lys Polymorphism rs1131103 - HLA-C P30510 VAR_056499 p.Val272Met Polymorphism rs1050276 - HLA-C Q07000 VAR_016639 p.Gly40Ser Polymorphism - - HLA-C Q07000 VAR_016640 p.His45Arg Polymorphism - - HLA-C Q07000 VAR_016641 p.Asn90Lys Polymorphism - - HLA-C Q07000 VAR_016642 p.Thr97Ala Polymorphism - - HLA-C Q07000 VAR_016643 p.His137Tyr Polymorphism - - HLA-C Q07000 VAR_016644 p.Leu140Phe Polymorphism - - HLA-C Q07000 VAR_016645 p.Leu140Ser Polymorphism - - HLA-C Q07000 VAR_056500 p.Ala73Glu Polymorphism rs1050409 - HLA-C Q07000 VAR_056501 p.Val76Met Polymorphism rs1065382 - HLA-C Q07000 VAR_056502 p.Ala182Val Polymorphism rs1059539 - HLA-C Q07000 VAR_056503 p.Glu201Lys Polymorphism rs1131103 - HLA-C Q07000 VAR_056504 p.Val272Met Polymorphism rs1050276 - HLA-C Q29865 VAR_016635 p.Val319Ala Polymorphism - - HLA-C Q29865 VAR_056517 p.Glu43Lys Polymorphism rs1050438 - HLA-C Q29865 VAR_056518 p.Ala73Glu Polymorphism rs1050409 - HLA-C Q29865 VAR_056519 p.Val76Met Polymorphism rs1065382 - HLA-C Q29865 VAR_056520 p.Lys90Asn Polymorphism rs28626310 - HLA-C Q29865 VAR_056521 p.Ala97Thr Polymorphism rs41543814 - HLA-C Q29865 VAR_056522 p.Ala182Val Polymorphism rs1059539 - HLA-C Q29865 VAR_056523 p.Glu201Lys Polymorphism rs1131103 - HLA-C Q29865 VAR_056524 p.Val272Met Polymorphism rs1050276 - HLA-C Q29865 VAR_059509 p.Leu10Ile Polymorphism rs2308527 - HLA-C Q29865 VAR_061456 p.Ser48Ala Polymorphism rs707911 - HLA-C Q29865 VAR_061457 p.Ser48Pro Polymorphism rs707911 - HLA-C Q29865 VAR_061458 p.Ser48Thr Polymorphism rs707911 - HLA-C Q29960 VAR_016630 p.Ser101Asn Polymorphism - - HLA-C Q29960 VAR_016631 p.Asn104Lys Polymorphism - - HLA-C Q29960 VAR_016632 p.His153Asp Polymorphism - - HLA-C Q29960 VAR_016633 p.Cys157Trp Polymorphism - - HLA-C Q29960 VAR_016634 p.Gln180Trp Polymorphism - - HLA-C Q29960 VAR_056505 p.Ala73Glu Polymorphism rs1050409 - HLA-C Q29960 VAR_056506 p.Val76Met Polymorphism rs1065382 - HLA-C Q29960 VAR_056507 p.Lys90Asn Polymorphism rs28626310 - HLA-C Q29960 VAR_056508 p.Tyr137His Polymorphism rs2308574 - HLA-C Q29960 VAR_056509 p.Ala182Val Polymorphism rs1059539 - HLA-C Q29960 VAR_056510 p.Glu201Lys Polymorphism rs1131103 - HLA-C Q29960 VAR_056511 p.Val272Met Polymorphism rs1050276 - HLA-C Q29963 VAR_016620 p.Asp33Tyr Polymorphism - - HLA-C Q29963 VAR_016621 p.Trp180Leu Polymorphism - - HLA-C Q29963 VAR_056474 p.Glu43Lys Polymorphism rs1050438 - HLA-C Q29963 VAR_056475 p.Ala73Glu Polymorphism rs1050409 - HLA-C Q29963 VAR_056476 p.Val76Met Polymorphism rs1065382 - HLA-C Q29963 VAR_056477 p.Lys90Asn Polymorphism rs28626310 - HLA-C Q29963 VAR_056478 p.Ala97Thr Polymorphism rs41543814 - HLA-C Q29963 VAR_056479 p.Tyr137His Polymorphism rs2308574 - HLA-C Q29963 VAR_056480 p.Ala182Val Polymorphism rs1059539 - HLA-C Q29963 VAR_056481 p.Glu201Lys Polymorphism rs1131103 - HLA-C Q29963 VAR_056482 p.Val272Met Polymorphism rs1050276 - HLA-C Q29963 VAR_061447 p.Ser48Ala Polymorphism rs707911 - HLA-C Q29963 VAR_061448 p.Ser48Pro Polymorphism rs707911 - HLA-C Q29963 VAR_061449 p.Ser48Thr Polymorphism rs707911 - HLA-C Q95604 VAR_016649 p.Leu10Ile Polymorphism - - HLA-C Q95604 VAR_016650 p.Ala24Thr Polymorphism - - HLA-C Q95604 VAR_056512 p.Ala73Glu Polymorphism rs1050409 - HLA-C Q95604 VAR_056513 p.Val76Met Polymorphism rs1065382 - HLA-C Q95604 VAR_056514 p.Lys90Asn Polymorphism rs28626310 - HLA-C Q95604 VAR_056515 p.Ala97Thr Polymorphism rs41543814 - HLA-C Q95604 VAR_056516 p.Val272Met Polymorphism rs1050276 - HLA-C Q9TNN7 VAR_016580 p.Asn138Asp Polymorphism - - HLA-C Q9TNN7 VAR_016581 p.Phe140Ser Polymorphism - - HLA-C Q9TNN7 VAR_016582 p.Lys201Glu Polymorphism - - HLA-C Q9TNN7 VAR_016584 p.Val218Ile Polymorphism - - HLA-C Q9TNN7 VAR_016585 p.Ala223Val Polymorphism - - HLA-C Q9TNN7 VAR_056470 p.Ala73Glu Polymorphism rs1050409 - HLA-C Q9TNN7 VAR_056471 p.Val76Met Polymorphism rs1065382 - HLA-C Q9TNN7 VAR_056472 p.Lys90Asn Polymorphism rs28626310 - HLA-C Q9TNN7 VAR_056473 p.Val272Met Polymorphism rs1050276 - HLA-DMA P28067 VAR_016746 p.His162Gln Polymorphism - - HLA-DMA P28067 VAR_016747 p.Asp163His Polymorphism - - HLA-DMA P28067 VAR_016748 p.Val166Ile Polymorphism rs1063478 - HLA-DMA P28067 VAR_016749 p.Gly181Ala Polymorphism rs6926628 - HLA-DMA P28067 VAR_016750 p.Arg210Cys Polymorphism rs17214044 - HLA-DMA P28067 VAR_016751 p.Arg210His Polymorphism rs41555121 - HLA-DMA P28067 VAR_056544 p.Val235Met Polymorphism rs9469319 - HLA-DMB P28068 VAR_016752 p.Ser45Phe Polymorphism rs41560814 - HLA-DMB P28068 VAR_016753 p.Ala162Glu Polymorphism - - HLA-DMB P28068 VAR_016754 p.Ala162Val Polymorphism - - HLA-DMB P28068 VAR_016755 p.Ile197Thr Polymorphism rs1042337 - HLA-DMB P28068 VAR_050360 p.Thr28Ala Polymorphism rs17583782 - HLA-DMB P28068 VAR_050361 p.Asp49Val Polymorphism rs17617333 - HLA-DMB P28068 VAR_050362 p.Ser71Asn Polymorphism rs17617321 - HLA-DOA P06340 VAR_058126 p.Leu99Val Polymorphism rs41542323 - HLA-DOA P06340 VAR_058127 p.Arg105Cys Polymorphism rs11575906 - HLA-DOB P13765 VAR_016743 p.Arg18Gln Polymorphism rs2071554 - HLA-DOB P13765 VAR_016744 p.Val244Ile Polymorphism rs2621330 - HLA-DOB P13765 VAR_016745 p.Leu234Phe Polymorphism rs2070121 - HLA-DOB P13765 VAR_050363 p.Val210Ile Polymorphism rs11575907 - HLA-DPA1 P20036 VAR_047683 p.Ala42Thr Polymorphism rs1126533 - HLA-DPA1 P20036 VAR_047684 p.Ala42Val Polymorphism rs1126534 - HLA-DPA1 P20036 VAR_047685 p.Met62Leu Polymorphism rs2308911 - HLA-DPA1 P20036 VAR_047686 p.Gln81Arg Polymorphism rs1042178 - HLA-DPA1 P20036 VAR_047687 p.Leu97Ser Polymorphism rs2308917 - HLA-DPA1 P20036 VAR_047688 p.Thr114Ala Polymorphism rs1126542 - HLA-DPA1 P20036 VAR_047689 p.Lys142Arg Polymorphism rs1042190 - HLA-DPA1 P20036 VAR_047690 p.Phe191Val Polymorphism rs1042308 - HLA-DPA1 P20036 VAR_058832 p.Ala42Met Polymorphism - - HLA-DPA1 P20036 VAR_058833 p.Pro49Thr Polymorphism rs2308907 - HLA-DPA1 P20036 VAR_058834 p.Met54Thr Polymorphism rs1042175 - HLA-DPA1 P20036 VAR_058835 p.Glu59Asp Polymorphism rs2308910 - HLA-DPA1 P20036 VAR_058836 p.Met62Lys Polymorphism rs2308912 - HLA-DPA1 P20036 VAR_058837 p.Trp74Cys Polymorphism rs72558171 - HLA-DPA1 P20036 VAR_058838 p.Ala82Thr Polymorphism rs41543112 - HLA-DPA1 P20036 VAR_058839 p.Asn100Asp Polymorphism rs61759929 - HLA-DPA1 P20036 VAR_058840 p.Thr103Ile Polymorphism rs41559316 - HLA-DPA1 P20036 VAR_058841 p.Leu104Ala Polymorphism - - HLA-DPA1 P20036 VAR_058842 p.Pro127Ala Polymorphism rs41562016 - HLA-DPA1 P20036 VAR_058843 p.Leu158Pro Polymorphism rs2308930 - HLA-DPA1 P20036 VAR_058844 p.Thr221Ala Polymorphism - - HLA-DPA1 P20036 VAR_058845 p.Thr259Pro Polymorphism rs1126769 - HLA-DPA1 P20036 VAR_058850 p.Met62Gln Polymorphism rs36013091 - HLA-DPB1 P04440 VAR_033433 p.Phe38Tyr Polymorphism rs1126509 - HLA-DPB1 P04440 VAR_033434 p.Gly40Val Polymorphism rs1126513 - HLA-DPB1 P04440 VAR_033435 p.Glu62Gln Polymorphism rs12722018 - HLA-DPB1 P04440 VAR_033436 p.Phe64Tyr Polymorphism rs1042117 - HLA-DPB1 P04440 VAR_033437 p.Ala65Val Polymorphism rs1042121 - HLA-DPB1 P04440 VAR_033438 p.Ala85Glu Polymorphism rs1042131 - HLA-DPB1 P04440 VAR_033439 p.Glu86Asp Polymorphism rs1042133 - HLA-DPB1 P04440 VAR_033440 p.Lys98Glu Polymorphism rs1042140 - HLA-DPB1 P04440 VAR_033441 p.Lys98Arg Polymorphism rs12722027 - HLA-DPB1 P04440 VAR_033442 p.Met105Val Polymorphism rs1042151 - HLA-DPB1 P04440 VAR_033443 p.Met105Ile Polymorphism rs1042153 - HLA-DPB1 P04440 VAR_033444 p.Gly114Glu Polymorphism rs9277354 - HLA-DPB1 P04440 VAR_033445 p.Pro115Ala Polymorphism rs9277355 - HLA-DPB1 P04440 VAR_033446 p.Met116Val Polymorphism rs9277356 - HLA-DPB1 P04440 VAR_033447 p.Leu207Met Polymorphism rs14362 - HLA-DPB1 P04440 VAR_033448 p.Ile244Thr Polymorphism rs3097675 - HLA-DPB1 P04440 VAR_050393 p.Arg223Gln Polymorphism rs9276 - HLA-DPB1 P04440 VAR_050394 p.Val234Met Polymorphism rs11551421 - HLA-DPB1 P04440 VAR_054662 p.Ala84Asp Polymorphism rs707958 - HLA-DPB1 P04440 VAR_059511 p.Ala84Val Polymorphism rs707958 - HLA-DPB1 P04440 VAR_059512 p.Ile94Phe Polymorphism rs1042136 - HLA-DPB1 P04440 VAR_059513 p.Ile94Leu Polymorphism rs1042136 - HLA-DPB1 P04440 VAR_060627 p.Thr16Met Polymorphism rs41558014 - HLA-DPB1 P04440 VAR_060628 p.Thr24Ile Polymorphism rs11551416 - HLA-DPB1 P04440 VAR_060629 p.Arg30Pro Polymorphism - - HLA-DPB1 P04440 VAR_060630 p.Ala31Leu Polymorphism - - HLA-DPB1 P04440 VAR_060631 p.Thr32Pro Polymorphism - - HLA-DPB1 P04440 VAR_060632 p.Pro33Ala Polymorphism - - HLA-DPB1 P04440 VAR_060633 p.Leu37Val Polymorphism rs1126504 - HLA-DPB1 P04440 VAR_060634 p.Phe38His Polymorphism - - HLA-DPB1 P04440 VAR_060635 p.Phe38Asp Polymorphism - - HLA-DPB1 P04440 VAR_060636 p.Phe38Leu Polymorphism rs12722013 - HLA-DPB1 P04440 VAR_060637 p.Gly40Leu Polymorphism - - HLA-DPB1 P04440 VAR_060638 p.Arg41Leu Polymorphism rs41540313 - HLA-DPB1 P04440 VAR_060639 p.Cys44Gly Polymorphism - - HLA-DPB1 P04440 VAR_060640 p.Ala46Pro Polymorphism rs41555313 - HLA-DPB1 P04440 VAR_060641 p.Ala46Thr Polymorphism - - HLA-DPB1 P04440 VAR_060642 p.Tyr57Asp Polymorphism rs41553416 - HLA-DPB1 P04440 VAR_060643 p.Arg61Pro Polymorphism rs41561114 - HLA-DPB1 P04440 VAR_060644 p.Phe64Leu Polymorphism rs9277348 - HLA-DPB1 P04440 VAR_060645 p.Asp68Tyr Polymorphism - - HLA-DPB1 P04440 VAR_060646 p.Gly72Trp Polymorphism rs41552915 - HLA-DPB1 P04440 VAR_060647 p.Ala84Glu Polymorphism - - HLA-DPB1 P04440 VAR_060648 p.Glu86Val Polymorphism rs41545212 - HLA-DPB1 P04440 VAR_060649 p.Asn89His Polymorphism rs41550319 - HLA-DPB1 P04440 VAR_060650 p.Asp93His Polymorphism rs41560812 - HLA-DPB1 P04440 VAR_060651 p.Ile94Asn Polymorphism rs41547212 - HLA-DPB1 P04440 VAR_060652 p.Arg99Trp Polymorphism rs41554314 - HLA-DPB1 P04440 VAR_060653 p.Val101Leu Polymorphism rs41546618 - HLA-DPB1 P04440 VAR_060654 p.Pro102Leu Polymorphism rs41551920 - HLA-DPB1 P04440 VAR_060655 p.Gly113Asn Polymorphism - - HLA-DPB1 P04440 VAR_060656 p.Gly113Val Polymorphism - - HLA-DPB1 P04440 VAR_060657 p.Gly113Asp Polymorphism rs1042169 - HLA-DPB1 P04440 VAR_060658 p.Arg120His Polymorphism rs41541915 - HLA-DPB1 P04440 VAR_060659 p.Arg125Lys Polymorphism rs1126537 - HLA-DPB1 P04440 VAR_060660 p.Thr199Ile Polymorphism - - HLA-DQA1 P01909 VAR_014604 p.Gln57Glu Polymorphism rs10093 - HLA-DQA1 P01909 VAR_033399 p.Met8Leu Polymorphism rs1047989 - HLA-DQA1 P01909 VAR_033400 p.Ala11Thr Polymorphism rs1047992 - HLA-DQA1 P01909 VAR_033401 p.Ser41Phe Polymorphism rs1071630 - HLA-DQA1 P01909 VAR_033402 p.Tyr48Phe Polymorphism rs12722051 - HLA-DQA1 P01909 VAR_033403 p.Thr49Ser Polymorphism rs3188011 - HLA-DQA1 P01909 VAR_033404 p.Cys70Tyr Polymorphism rs3207983 - HLA-DQA1 P01909 VAR_033405 p.Val73Leu Polymorphism - - HLA-DQA1 P01909 VAR_033406 p.Val73Asp Polymorphism - - HLA-DQA1 P01909 VAR_033407 p.Arg78Ser Polymorphism rs36219345 - HLA-DQA1 P01909 VAR_033408 p.Thr86Arg Polymorphism rs1048073 - HLA-DQA1 P01909 VAR_033409 p.Ile88Met Polymorphism rs1048080 - HLA-DQA1 P01909 VAR_033410 p.Leu91Val Polymorphism rs1048085 - HLA-DQA1 P01909 VAR_033411 p.Val229Met Polymorphism rs9260 - HLA-DQA1 P01909 VAR_033412 p.Phe237Leu Polymorphism rs1048430 - HLA-DQA1 P01909 VAR_033413 p.Arg240Gln Polymorphism rs9272793 - HLA-DQA1 P01909 VAR_050380 p.Val17Met Polymorphism rs12722039 - HLA-DQA1 P01909 VAR_050381 p.Met18Thr Polymorphism rs12722040 - HLA-DQA1 P01909 VAR_050382 p.Asp25Gly Polymorphism rs12722042 - HLA-DQA1 P01909 VAR_050383 p.Arg64Lys Polymorphism rs36219699 - HLA-DQA1 P01909 VAR_050384 p.Ser102Tyr Polymorphism rs1129808 - HLA-DQA1 P01909 VAR_050385 p.Ile129Thr Polymorphism rs707952 - HLA-DQA1 P01909 VAR_050386 p.His151Gln Polymorphism rs707950 - HLA-DQA1 P01909 VAR_050387 p.Ala209Thr Polymorphism rs9272785 - HLA-DQA1 P01909 VAR_050388 p.Ala221Thr Polymorphism rs35087390 - HLA-DQA1 P01909 VAR_060493 p.Glu24Lys Polymorphism rs41545012 - HLA-DQA1 P01909 VAR_060494 p.Tyr34Cys Polymorphism rs1129740 - HLA-DQA1 P01909 VAR_060495 p.Pro44Leu Polymorphism rs41549715 - HLA-DQA1 P01909 VAR_060496 p.Gly63Glu Polymorphism rs1142323 - HLA-DQA1 P01909 VAR_060497 p.Thr67Ala Polymorphism rs41543221 - HLA-DQA1 P01909 VAR_060498 p.Val68Ala Polymorphism rs1142324 - HLA-DQA1 P01909 VAR_060499 p.Cys70Lys Polymorphism - - HLA-DQA1 P01909 VAR_060500 p.Cys70Gln Polymorphism - - HLA-DQA1 P01909 VAR_060501 p.Cys70Arg Polymorphism - - HLA-DQA1 P01909 VAR_060502 p.Leu71Trp Polymorphism rs1142328 - HLA-DQA1 P01909 VAR_060503 p.Val73Glu Polymorphism rs3208105 - HLA-DQA1 P01909 VAR_060504 p.Leu74Phe Polymorphism rs9272698 - HLA-DQA1 P01909 VAR_060505 p.Arg75His Polymorphism - - HLA-DQA1 P01909 VAR_060506 p.Arg75Ser Polymorphism rs9272699 - HLA-DQA1 P01909 VAR_060507 p.Gln76Lys Polymorphism rs1048052 - HLA-DQA1 P01909 VAR_060508 p.Gln76Arg Polymorphism - - HLA-DQA1 P01909 VAR_060509 p.Phe77Leu Polymorphism rs3188043 - HLA-DQA1 P01909 VAR_060512 p.Pro81Arg Polymorphism rs41541412 - HLA-DQA1 P01909 VAR_060513 p.Phe83Gly Polymorphism - - HLA-DQA1 P01909 VAR_060514 p.Leu91Ala Polymorphism - - HLA-DQA1 P01909 VAR_060515 p.Leu91Thr Polymorphism - - HLA-DQA1 P01909 VAR_060516 p.Ser97Ile Polymorphism - - HLA-DQA1 P01909 VAR_060517 p.Leu98Met Polymorphism - - HLA-DQA1 P01909 VAR_060518 p.Leu98Val Polymorphism - - HLA-DQA1 P01909 VAR_060519 p.Arg101Cys Polymorphism - - HLA-DQA1 P01909 VAR_060520 p.Leu124Val Polymorphism - - HLA-DQA1 P01909 VAR_060521 p.Ser152Ala Polymorphism - - HLA-DQA1 P01909 VAR_060522 p.Thr160Ile Polymorphism - - HLA-DQA1 P01909 VAR_060523 p.Ser161Arg Polymorphism - - HLA-DQA1 P01909 VAR_060524 p.Ser161Ile Polymorphism - - HLA-DQA1 P01909 VAR_060525 p.Tyr175His Polymorphism - - HLA-DQA1 P01909 VAR_060526 p.Leu178Phe Polymorphism rs707949 - HLA-DQA1 P01909 VAR_060527 p.Ala182Asp Polymorphism - - HLA-DQA1 P01909 VAR_060528 p.Ala182Ser Polymorphism - - HLA-DQA1 P01909 VAR_060529 p.Glu183Asp Polymorphism rs707963 - HLA-DQA1 P01909 VAR_060530 p.Ser185Ile Polymorphism - - HLA-DQA1 P01909 VAR_060531 p.Lys197Glu Polymorphism - - HLA-DQA1 P01909 VAR_060532 p.Lys197Gln Polymorphism - - HLA-DQA1 P01909 VAR_060533 p.Gly230Cys Polymorphism - - HLA-DQA2 P01906 VAR_033431 p.Val227Ala Polymorphism rs9276436 - HLA-DQA2 P01906 VAR_050392 p.Gly247Asp Polymorphism rs2071800 - HLA-DQB1 P01920 VAR_056570 p.Ala6Ser Polymorphism rs1049056 - HLA-DQB1 P01920 VAR_056571 p.Val148Ile Polymorphism rs1049100 - HLA-DQB1 P01920 VAR_056572 p.Glu194Asp Polymorphism rs9273952 - HLA-DQB1 P01920 VAR_059522 p.Pro197Leu Polymorphism rs9273948 - HLA-DQB1 P01920 VAR_061472 p.Ala45Gly Polymorphism rs1130375 - HLA-DQB1 P01920 VAR_061473 p.Met46Leu Polymorphism rs1130368 - HLA-DQB1 P01920 VAR_061474 p.Gln256Arg Polymorphism rs1130432 - HLA-DQB1 P01920 VAR_062679 p.Gly12Asp Polymorphism rs1049057 - HLA-DQB1 P01920 VAR_062680 p.Ala15Val Polymorphism rs3189152 - HLA-DQB1 P01920 VAR_062681 p.Ala23Ser Polymorphism rs3891176 - HLA-DQB1 P01920 VAR_062682 p.Met24Ile Polymorphism rs1049059 - HLA-DQB1 P01920 VAR_062683 p.Thr27Ala Polymorphism - - HLA-DQB1 P01920 VAR_062684 p.Thr27Ser Polymorphism rs1049060 - HLA-DQB1 P01920 VAR_062685 p.Pro28Leu Polymorphism rs1049062 - HLA-DQB1 P01920 VAR_062686 p.Pro28Ser Polymorphism - - HLA-DQB1 P01920 VAR_062687 p.Val29Leu Polymorphism rs1130366 - HLA-DQB1 P01920 VAR_062688 p.Ser35Pro Polymorphism - - HLA-DQB1 P01920 VAR_062689 p.Tyr41Phe Polymorphism rs9274407 - HLA-DQB1 P01920 VAR_062690 p.Tyr41Leu Polymorphism - - HLA-DQB1 P01920 VAR_062691 p.Phe43Leu Polymorphism rs56173496 - HLA-DQB1 P01920 VAR_062692 p.Arg55Leu Polymorphism rs41540813 - HLA-DQB1 P01920 VAR_062693 p.Tyr58Gly Polymorphism - - HLA-DQB1 P01920 VAR_062694 p.Tyr58Leu Polymorphism - - HLA-DQB1 P01920 VAR_062695 p.Val59Leu Polymorphism rs41563539 - HLA-DQB1 P01920 VAR_062696 p.Thr60Ser Polymorphism rs9274405 - HLA-DQB1 P01920 VAR_062697 p.Tyr62His Polymorphism - - HLA-DQB1 P01920 VAR_062698 p.Tyr62Ser Polymorphism - - HLA-DQB1 P01920 VAR_062699 p.Tyr69Asp Polymorphism rs1130370 - HLA-DQB1 P01920 VAR_062700 p.Tyr69Ile Polymorphism - - HLA-DQB1 P01920 VAR_062701 p.Ala70Thr Polymorphism rs45519640 - HLA-DQB1 P01920 VAR_062702 p.Ala70Val Polymorphism rs1063318 - HLA-DQB1 P01920 VAR_062703 p.Glu77Gly Polymorphism rs1049083 - HLA-DQB1 P01920 VAR_062704 p.Val78Glu Polymorphism rs9274398 - HLA-DQB1 P01920 VAR_062705 p.Tyr79Phe Polymorphism rs9274397 - HLA-DQB1 P01920 VAR_062706 p.Ala81Val Polymorphism rs41558214 - HLA-DQB1 P01920 VAR_062707 p.Pro84Leu Polymorphism rs9274395 - HLA-DQB1 P01920 VAR_062708 p.Leu85Gln Polymorphism rs1140313 - HLA-DQB1 P01920 VAR_062709 p.Pro87Leu Polymorphism - - HLA-DQB1 P01920 VAR_062710 p.Pro87Gln Polymorphism - - HLA-DQB1 P01920 VAR_062711 p.Pro87Arg Polymorphism rs1130380 - HLA-DQB1 P01920 VAR_062712 p.Pro88Leu Polymorphism rs1130381 - HLA-DQB1 P01920 VAR_062713 p.Asp89Ala Polymorphism rs1071637 - HLA-DQB1 P01920 VAR_062714 p.Asp89Ser Polymorphism - - HLA-DQB1 P01920 VAR_062715 p.Asp89Val Polymorphism - - HLA-DQB1 P01920 VAR_062716 p.Tyr92Asn Polymorphism - - HLA-DQB1 P01920 VAR_062717 p.Asn94Lys Polymorphism - - HLA-DQB1 P01920 VAR_062718 p.Ser95Arg Polymorphism - - HLA-DQB1 P01920 VAR_062719 p.Glu98Asp Polymorphism rs9274390 - HLA-DQB1 P01920 VAR_062720 p.Val99Asp Polymorphism - - HLA-DQB1 P01920 VAR_062721 p.Val99Ile Polymorphism - - HLA-DQB1 P01920 VAR_062722 p.Arg102Glu Polymorphism - - HLA-DQB1 P01920 VAR_062723 p.Arg102Gly Polymorphism rs1130386 - HLA-DQB1 P01920 VAR_062724 p.Thr103Ala Polymorphism - - HLA-DQB1 P01920 VAR_062725 p.Thr103Asp Polymorphism - - HLA-DQB1 P01920 VAR_062726 p.Thr103Lys Polymorphism - - HLA-DQB1 P01920 VAR_062727 p.Glu106Ala Polymorphism rs1130387 - HLA-DQB1 P01920 VAR_062728 p.Glu106Ser Polymorphism - - HLA-DQB1 P01920 VAR_062729 p.Leu107Val Polymorphism rs9274384 - HLA-DQB1 P01920 VAR_062730 p.Thr109Arg Polymorphism rs1130392 - HLA-DQB1 P01920 VAR_062731 p.Gln116Glu Polymorphism rs1140316 - HLA-DQB1 P01920 VAR_062732 p.Leu117Val Polymorphism rs1140317 - HLA-DQB1 P01920 VAR_062733 p.Glu118Ala Polymorphism - - HLA-DQB1 P01920 VAR_062734 p.Glu118Gly Polymorphism - - HLA-DQB1 P01920 VAR_062735 p.Leu119Phe Polymorphism rs9274379 - HLA-DQB1 P01920 VAR_062736 p.Leu119Tyr Polymorphism - - HLA-DQB1 P01920 VAR_062737 p.Thr121Gly Polymorphism - - HLA-DQB1 P01920 VAR_062738 p.Thr122Ile Polymorphism rs1140320 - HLA-DQB1 P01920 VAR_062739 p.Ala157Gly Polymorphism - - HLA-DQB1 P01920 VAR_062740 p.Ala157Ser Polymorphism - - HLA-DQB1 P01920 VAR_062741 p.Gln158His Polymorphism - - HLA-DQB1 P01920 VAR_062742 p.Arg162Gln Polymorphism - - HLA-DQB1 P01920 VAR_062743 p.Arg165Trp Polymorphism - - HLA-DQB1 P01920 VAR_062744 p.Arg165Gln Polymorphism - - HLA-DQB1 P01920 VAR_062745 p.Asp167Gly Polymorphism - - HLA-DQB1 P01920 VAR_062746 p.Gln168Glu Polymorphism - - HLA-DQB1 P01920 VAR_062747 p.Thr172Ala Polymorphism rs1063323 - HLA-DQB1 P01920 VAR_062748 p.His199Arg Polymorphism - - HLA-DQB1 P01920 VAR_062750 p.Val202Ile Polymorphism - - HLA-DQB1 P01920 VAR_062751 p.Asn214Ser Polymorphism - - HLA-DQB1 P01920 VAR_062752 p.Thr217Ile Polymorphism - - HLA-DQB1 P01920 VAR_062753 p.Val218Ala Polymorphism - - HLA-DQB1 P01920 VAR_062754 p.Ser229Asn Polymorphism - - HLA-DQB1 P01920 VAR_062755 p.Ile235Val Polymorphism - - HLA-DQB1 P01920 VAR_062756 p.His252Arg Polymorphism rs1140342 - HLA-DQB1 P01920 VAR_062757 p.His253Gln Polymorphism - - HLA-DRA P01903 VAR_004399 p.Val242Leu Polymorphism rs7192 - HLA-DRA P01903 VAR_035241 p.Val16Leu Polymorphism rs16822586 - HLA-DRB1 P01911 VAR_038162 p.Tyr59His Polymorphism - - HLA-DRB1 P01911 VAR_038163 p.Ile96Phe Polymorphism - - HLA-DRB1 P01911 VAR_038164 p.Val115Gly Polymorphism - - HLA-DRB1 P01911 VAR_050364 p.Lys5Arg Polymorphism rs9270305 - HLA-DRB1 P01911 VAR_050365 p.Phe55Tyr Polymorphism rs16822516 - HLA-DRB1 P01911 VAR_050366 p.Thr106Asn Polymorphism rs9269941 - HLA-DRB1 P01911 VAR_050367 p.Gly164Ser Polymorphism rs1059633 - HLA-DRB1 P01911 VAR_050368 p.Ala169Thr Polymorphism rs2308768 - HLA-DRB1 P01911 VAR_050369 p.Val236Met Polymorphism rs2230816 - HLA-DRB1 P01911 VAR_050370 p.Thr262Arg Polymorphism rs9269744 - HLA-DRB1 P01912 VAR_050371 p.Tyr55Phe Polymorphism rs16822516 - HLA-DRB1 P01912 VAR_050372 p.Asn106Thr Polymorphism rs9269941 - HLA-DRB1 P01912 VAR_050373 p.Gly164Ser Polymorphism rs1059633 - HLA-DRB1 P01912 VAR_050374 p.Thr169Ala Polymorphism rs2308768 - HLA-DRB1 P01912 VAR_056545 p.Val236Met Polymorphism rs2230816 - HLA-DRB1 P04229 VAR_016710 p.Leu96Ile Polymorphism - - HLA-DRB1 P04229 VAR_016711 p.Gln99Asp Polymorphism - - HLA-DRB1 P04229 VAR_016712 p.Arg100Glu Polymorphism - - HLA-DRB1 P04229 VAR_016713 p.Thr106Asn Polymorphism rs16822752 - HLA-DRB1 P04229 VAR_016714 p.Val114Ala Polymorphism rs17424145 - HLA-DRB1 P04229 VAR_016715 p.Gly115Val Polymorphism rs2230810 - HLA-DRB1 P04229 VAR_016716 p.Gln253Glu Polymorphism - - HLA-DRB1 P04229 VAR_016740 p.Gln39Glu Polymorphism - - HLA-DRB1 P04229 VAR_016741 p.Gly74Arg Polymorphism - - HLA-DRB1 P04229 VAR_016742 p.Arg100Ala Polymorphism - - HLA-DRB1 P04229 VAR_033377 p.Thr13Ala Polymorphism rs1059553 - HLA-DRB1 P04229 VAR_033378 p.Ala29Ser Polymorphism rs9270299 - HLA-DRB1 P04229 VAR_033379 p.Arg33Lys Polymorphism rs34716432 - HLA-DRB1 P04229 VAR_033380 p.Arg33Gln Polymorphism rs34716432 - HLA-DRB1 P04229 VAR_033381 p.Ser66Tyr Polymorphism rs16822820 - HLA-DRB1 P04229 VAR_033382 p.Tyr76Phe Polymorphism rs1060346 - HLA-DRB1 P04229 VAR_033383 p.Tyr89Ser Polymorphism rs36074728 - HLA-DRB1 P04229 VAR_033384 p.Gln99Glu Polymorphism rs17881965 - HLA-DRB1 P04229 VAR_033385 p.Gln99His Polymorphism rs17879599 - HLA-DRB1 P04229 VAR_033386 p.Ala102Gly Polymorphism rs17878857 - HLA-DRB1 P04229 VAR_033387 p.Ala103Glu Polymorphism rs16822805 - HLA-DRB1 P04229 VAR_033388 p.Tyr107His Polymorphism rs16822512 - HLA-DRB1 P04229 VAR_033389 p.Gly164Asp Polymorphism rs1059633 - HLA-DRB1 P04229 VAR_033390 p.Ala169Thr Polymorphism rs2308768 - HLA-DRB1 P04229 VAR_033391 p.Val171Met Polymorphism rs701829 - HLA-DRB1 P04229 VAR_033392 p.Gln178His Polymorphism rs701830 - HLA-DRB1 P04229 VAR_033393 p.Arg195Gln Polymorphism rs3205588 - HLA-DRB1 P04229 VAR_033394 p.Thr210Ile Polymorphism rs17423930 - HLA-DRB1 P04229 VAR_033395 p.Val236Met Polymorphism rs2230816 - HLA-DRB1 P04229 VAR_056527 p.Lys5Arg Polymorphism rs9270305 - HLA-DRB1 P04229 VAR_056528 p.Thr262Arg Polymorphism rs9269744 - HLA-DRB1 P13760 VAR_016673 p.Asp86Ser Polymorphism - - HLA-DRB1 P13760 VAR_016674 p.Leu96Ile Polymorphism - - HLA-DRB1 P13760 VAR_016675 p.Gln99Asp Polymorphism - - HLA-DRB1 P13760 VAR_016676 p.Lys100Glu Polymorphism - - HLA-DRB1 P13760 VAR_016677 p.Lys100Arg Polymorphism - - HLA-DRB1 P13760 VAR_016678 p.Ala103Glu Polymorphism - - HLA-DRB1 P13760 VAR_016679 p.Gly115Val Polymorphism - - HLA-DRB1 P13760 VAR_056529 p.Lys5Arg Polymorphism rs9270305 - HLA-DRB1 P13760 VAR_056530 p.Val236Met Polymorphism rs2230816 - HLA-DRB1 P13760 VAR_056531 p.Thr262Arg Polymorphism rs9269744 - HLA-DRB1 P13761 VAR_016680 p.Arg58Ser Polymorphism - - HLA-DRB1 P13761 VAR_016681 p.Thr106Asn Polymorphism - - HLA-DRB1 P13761 VAR_016682 p.Val107Tyr Polymorphism - - HLA-DRB1 P13761 VAR_056532 p.Lys5Arg Polymorphism rs9270305 - HLA-DRB1 P13761 VAR_056533 p.Val236Met Polymorphism rs2230816 - HLA-DRB1 P13761 VAR_056534 p.Thr262Arg Polymorphism rs9269744 - HLA-DRB1 P20039 VAR_016717 p.Arg100Glu Polymorphism - - HLA-DRB1 P20039 VAR_016718 p.Gly115Val Polymorphism - - HLA-DRB1 P20039 VAR_056542 p.Phe55Tyr Polymorphism rs16822516 - HLA-DRB1 P20039 VAR_056543 p.Val236Met Polymorphism rs2230816 - HLA-DRB1 Q29974 VAR_062840 p.Arg42Lys Polymorphism - - HLA-DRB1 Q29974 VAR_062841 p.Glu43Lys Polymorphism - - HLA-DRB1 Q29974 VAR_062842 p.Leu56Pro Polymorphism - - HLA-DRB1 Q29974 VAR_062843 p.Ser66Asn Polymorphism - - HLA-DRB1 Q29974 VAR_062844 p.Tyr76Phe Polymorphism - - HLA-DRB1 Q29974 VAR_062845 p.Phe96Ile Polymorphism - - HLA-DRB1 Q29974 VAR_062846 p.Phe96Leu Polymorphism - - HLA-DRB1 Q29974 VAR_062847 p.Arg101Ala Polymorphism - - HLA-DRB1 Q29974 VAR_062848 p.Ala103Leu Polymorphism - - HLA-DRB1 Q29974 VAR_062849 p.Thr262Arg Polymorphism rs9269744 - HLA-DRB1 Q30134 VAR_016683 p.Ser86Asp Polymorphism - - HLA-DRB1 Q30134 VAR_016684 p.Phe96Ile Polymorphism - - HLA-DRB1 Q30134 VAR_016685 p.Gly115Val Polymorphism - - HLA-DRB1 Q30134 VAR_056535 p.Val236Met Polymorphism rs2230816 - HLA-DRB1 Q30134 VAR_056536 p.Thr262Arg Polymorphism rs9269744 - HLA-DRB1 Q30167 VAR_056540 p.Val236Met Polymorphism rs2230816 - HLA-DRB1 Q30167 VAR_056541 p.Thr262Arg Polymorphism rs9269744 - HLA-DRB1 Q5Y7A7 VAR_062866 p.Tyr39Leu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062867 p.Ser40Leu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062868 p.Thr41Lys Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062869 p.Ser42Gly Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062870 p.His45Tyr Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062871 p.His45Gln Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062872 p.Arg54Leu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062873 p.Phe55Tyr Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062874 p.Leu56Gln Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062875 p.Asp57Glu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062876 p.His61Tyr Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062877 p.Asn66Tyr Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062878 p.Asn66Phe Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062879 p.Asn66Ser Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062880 p.Asn66Asp Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062881 p.Asn66Ile Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062882 p.Val67Leu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062883 p.Phe76Tyr Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062884 p.Arg77Leu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062885 p.Arg77Trp Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062886 p.Val79Leu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062887 p.Asp86Ser Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062888 p.Asp86Val Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062889 p.Asp86Ala Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062890 p.Tyr89Ser Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062891 p.Tyr89His Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062892 p.Ile96Phe Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062893 p.Ile96Leu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062894 p.Leu97Arg Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062895 p.Asp99Gln Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062896 p.Glu100Arg Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062897 p.Glu100Lys Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062898 p.Glu100Ala Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062899 p.Ala103Leu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062900 p.Ala103Glu Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062901 p.Thr106Asn Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062902 p.Gly113Arg Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062903 p.Val114Ala Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062904 p.Val115Gly Polymorphism - - HLA-DRB1 Q5Y7A7 VAR_062905 p.Val115Asp Polymorphism - - HLA-DRB1 Q95IE3 VAR_062818 p.Arg5Lys Polymorphism - - HLA-DRB1 Q95IE3 VAR_062819 p.Ala13Thr Polymorphism - - HLA-DRB1 Q95IE3 VAR_062820 p.Val14Ala Polymorphism - - HLA-DRB1 Q95IE3 VAR_062821 p.Val14Ile Polymorphism - - HLA-DRB1 Q95IE3 VAR_062822 p.Arg54Leu Polymorphism - - HLA-DRB1 Q95IE3 VAR_062823 p.Leu55Phe Polymorphism - - HLA-DRB1 Q95IE3 VAR_062824 p.Leu66Phe Polymorphism - - HLA-DRB1 Q95IE3 VAR_062825 p.Leu67Val Polymorphism - - HLA-DRB1 Q95IE3 VAR_062826 p.Phe76Leu Polymorphism - - HLA-DRB1 Q95IE3 VAR_062827 p.Val86Asp Polymorphism - - HLA-DRB1 Q95IE3 VAR_062828 p.Ala87Glu Polymorphism - - HLA-DRB1 Q95IE3 VAR_062829 p.Glu88Gln Polymorphism - - HLA-DRB1 Q95IE3 VAR_062830 p.Ser89Tyr Polymorphism - - HLA-DRB1 Q95IE3 VAR_062831 p.Ile96Phe Polymorphism - - HLA-DRB1 Q95IE3 VAR_062832 p.Ile96Leu Polymorphism - - HLA-DRB1 Q95IE3 VAR_062833 p.Glu98Gly Polymorphism - - HLA-DRB1 Q95IE3 VAR_062834 p.Ala114Val Polymorphism - - HLA-DRB1 Q95IE3 VAR_062835 p.Val115Gly Polymorphism - - HLA-DRB1 Q95IE3 VAR_062836 p.His125Glu Polymorphism - - HLA-DRB1 Q95IE3 VAR_062837 p.Thr169Ala Polymorphism - - HLA-DRB1 Q95IE3 VAR_062838 p.His178Gln Polymorphism - - HLA-DRB1 Q95IE3 VAR_062839 p.Arg262Thr Polymorphism rs9269744 - HLA-DRB1 Q9GIY3 VAR_062906 p.Tyr39Gln Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062907 p.Tyr39Leu Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062908 p.Ser40Arg Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062909 p.Ser40Val Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062910 p.Ser40Pro Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062911 p.Thr41Lys Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062912 p.Ser42His Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062913 p.Ser42Gly Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062914 p.His45Tyr Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062915 p.His45Gln Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062916 p.Arg54Gln Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062917 p.Phe55Tyr Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062918 p.Leu56Met Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062919 p.Asp57Glu Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062920 p.Tyr59His Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062921 p.His61Tyr Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062922 p.Phe66Tyr Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062923 p.Phe66Asn Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062924 p.Val67Leu Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062925 p.Gly74Arg Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062926 p.Tyr76Phe Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062927 p.Thr80Arg Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062928 p.Ala86Asp Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062929 p.Ala86Ser Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062930 p.Ala86Thr Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062931 p.Ala86Val Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062932 p.Ala87Glu Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062933 p.His89Tyr Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062934 p.His89Ser Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062935 p.Leu96Phe Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062936 p.Leu96Ile Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062937 p.Arg99Gln Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062938 p.Arg99Asp Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062939 p.Arg100Lys Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062940 p.Arg100Glu Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062941 p.Arg100Ala Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062942 p.Ala102Ser Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062943 p.Ala102Gly Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062944 p.Glu103Ala Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062945 p.Glu103Leu Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062946 p.Glu103Arg Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062947 p.Thr106Asn Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062948 p.Thr106Ala Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062949 p.His110Tyr Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062950 p.Val114Ala Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062951 p.Val115Gly Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062952 p.Val115Met Polymorphism - - HLA-DRB1 Q9GIY3 VAR_062953 p.Tyr141His Polymorphism - - HLA-DRB1 Q9TQE0 VAR_056537 p.Lys5Arg Polymorphism rs9270305 - HLA-DRB1 Q9TQE0 VAR_056538 p.Val236Met Polymorphism rs2230816 - HLA-DRB1 Q9TQE0 VAR_056539 p.Thr262Arg Polymorphism rs9269744 - HLA-DRB3 P79483 VAR_016686 p.Arg40Cys Polymorphism - - HLA-DRB3 P79483 VAR_033396 p.Gly102Ala Polymorphism rs17878857 - HLA-DRB3 P79483 VAR_033397 p.Val114Ala Polymorphism rs17424145 - HLA-DRB3 P79483 VAR_033398 p.Val236Met Polymorphism rs2230816 - HLA-DRB3 P79483 VAR_060739 p.Leu37Ser Polymorphism - - HLA-DRB3 P79483 VAR_060740 p.Glu38Gln Polymorphism - - HLA-DRB3 P79483 VAR_060741 p.Leu39Tyr Polymorphism - - HLA-DRB3 P79483 VAR_060742 p.Arg40Leu Polymorphism - - HLA-DRB3 P79483 VAR_060743 p.Arg40Ser Polymorphism - - HLA-DRB3 P79483 VAR_060744 p.Lys41Thr Polymorphism - - HLA-DRB3 P79483 VAR_060745 p.Tyr55Leu Polymorphism - - HLA-DRB3 P79483 VAR_060746 p.Tyr55Phe Polymorphism - - HLA-DRB3 P79483 VAR_060747 p.Asp57Glu Polymorphism - - HLA-DRB3 P79483 VAR_060748 p.Asp57Asn Polymorphism - - HLA-DRB3 P79483 VAR_060749 p.Arg58Ile Polymorphism - - HLA-DRB3 P79483 VAR_060750 p.Tyr59His Polymorphism - - HLA-DRB3 P79483 VAR_060751 p.Phe66Ser Polymorphism - - HLA-DRB3 P79483 VAR_060752 p.Phe66Leu Polymorphism - - HLA-DRB3 P79483 VAR_060753 p.Phe66Asn Polymorphism - - HLA-DRB3 P79483 VAR_060754 p.Phe66Tyr Polymorphism - - HLA-DRB3 P79483 VAR_060755 p.Leu67Ala Polymorphism - - HLA-DRB3 P79483 VAR_060756 p.Leu67Val Polymorphism - - HLA-DRB3 P79483 VAR_060757 p.Arg68Ser Polymorphism - - HLA-DRB3 P79483 VAR_060758 p.Thr80Arg Polymorphism - - HLA-DRB3 P79483 VAR_060759 p.Arg84Leu Polymorphism - - HLA-DRB3 P79483 VAR_060760 p.Val86Ala Polymorphism - - HLA-DRB3 P79483 VAR_060761 p.Val86Ser Polymorphism - - HLA-DRB3 P79483 VAR_060762 p.Val86Asp Polymorphism - - HLA-DRB3 P79483 VAR_060763 p.Ala87Glu Polymorphism - - HLA-DRB3 P79483 VAR_060764 p.Ser89His Polymorphism - - HLA-DRB3 P79483 VAR_060765 p.Ser89Tyr Polymorphism - - HLA-DRB3 P79483 VAR_060766 p.Leu96Phe Polymorphism - - HLA-DRB3 P79483 VAR_060767 p.Leu96Ile Polymorphism - - HLA-DRB3 P79483 VAR_060768 p.Arg103Gln Polymorphism - - HLA-DRB3 P79483 VAR_060769 p.Asn106Thr Polymorphism - - HLA-DRB3 P79483 VAR_060770 p.Gly113Arg Polymorphism - - HLA-DRB3 P79483 VAR_060771 p.Gly115Ala Polymorphism - - HLA-DRB3 P79483 VAR_060772 p.Gly115Val Polymorphism - - HLA-DRB3 P79483 VAR_060773 p.Ala169Thr Polymorphism - - HLA-DRB3 P79483 VAR_060774 p.Gln178His Polymorphism - - HLA-DRB3 P79483 VAR_060775 p.Val193Phe Polymorphism - - HLA-DRB3 P79483 VAR_060776 p.Ala212Pro Polymorphism - - HLA-DRB3 P79483 VAR_060777 p.Arg218Ser Polymorphism - - HLA-DRB4 P13762 VAR_060778 p.Asp105Gly Polymorphism - - HLA-DRB4 P13762 VAR_060779 p.Thr106Asn Polymorphism - - HLA-DRB4 P13762 VAR_060780 p.Tyr110His Polymorphism - - HLA-DRB4 P13762 VAR_060781 p.Gly113Arg Polymorphism - - HLA-DRB4 P13762 VAR_060782 p.His141Tyr Polymorphism - - HLA-DRB4 P13762 VAR_060783 p.Gly164Ser Polymorphism rs3200405 - HLA-DRB5 Q30154 VAR_039871 p.Leu28Ser Polymorphism - - HLA-DRB5 Q30154 VAR_039872 p.Gly154Ala Polymorphism - - HLA-DRB5 Q30154 VAR_050355 p.Met20Thr Polymorphism rs17211043 - HLA-DRB5 Q30154 VAR_050356 p.Arg33Gln Polymorphism rs34716432 - HLA-DRB5 Q30154 VAR_050357 p.Lys41Thr Polymorphism rs1136756 - HLA-DRB5 Q30154 VAR_050358 p.Asn62His Polymorphism rs1059576 - HLA-DRB5 Q30154 VAR_050359 p.Thr106Asn Polymorphism rs16822752 - HLA-DRB5 Q30154 VAR_060951 p.Lys14Met Polymorphism rs1064587 - HLA-DRB5 Q30154 VAR_060952 p.Lys14Gln Polymorphism rs701884 - HLA-DRB5 Q30154 VAR_060953 p.Lys14Val Polymorphism - - HLA-DRB5 Q30154 VAR_060954 p.Arg35Cys Polymorphism rs41560013 - HLA-DRB5 Q30154 VAR_060955 p.His57Gln Polymorphism rs1059345 - HLA-DRB5 Q30154 VAR_060956 p.Asp59Gly Polymorphism rs41546317 - HLA-DRB5 Q30154 VAR_060957 p.Asp59His Polymorphism rs707955 - HLA-DRB5 Q30154 VAR_060958 p.Asp66Asn Polymorphism rs707956 - HLA-DRB5 Q30154 VAR_060959 p.Asp66Tyr Polymorphism - - HLA-DRB5 Q30154 VAR_060960 p.Leu67Val Polymorphism rs1059580 - HLA-DRB5 Q30154 VAR_060961 p.Ala87Glu Polymorphism - - HLA-DRB5 Q30154 VAR_060962 p.Tyr89Ser Polymorphism rs41541218 - HLA-DRB5 Q30154 VAR_060963 p.Phe96Leu Polymorphism - - HLA-DRB5 Q30154 VAR_060964 p.Phe96Ile Polymorphism rs41562819 - HLA-DRB5 Q30154 VAR_060965 p.Asp99Glu Polymorphism rs41559913 - HLA-DRB5 Q30154 VAR_060966 p.Asp99Gly Polymorphism rs41545413 - HLA-DRB5 Q30154 VAR_060967 p.Asp99His Polymorphism rs41547217 - HLA-DRB5 Q30154 VAR_060968 p.Asp99Asn Polymorphism - - HLA-DRB5 Q30154 VAR_060969 p.Asp99Gln Polymorphism - - HLA-DRB5 Q30154 VAR_060970 p.Asp99Arg Polymorphism - - HLA-DRB5 Q30154 VAR_060971 p.Arg100Ala Polymorphism - - HLA-DRB5 Q30154 VAR_060972 p.Arg100Gly Polymorphism rs41551116 - HLA-DRB5 Q30154 VAR_060973 p.Arg100Thr Polymorphism - - HLA-DRB5 Q30154 VAR_060974 p.Ala103Glu Polymorphism - - HLA-DRB5 Q30154 VAR_060975 p.Ala103Leu Polymorphism - - HLA-DRB5 Q30154 VAR_060976 p.Tyr107Val Polymorphism - - HLA-DRB5 Q30154 VAR_060977 p.Val114Ala Polymorphism - - HLA-DRB5 Q30154 VAR_060978 p.Gly115Val Polymorphism - - HLA-DRB5 Q30154 VAR_060979 p.Ser164Gly Polymorphism - - HLA-DRB5 Q30154 VAR_060980 p.Thr186Ile Polymorphism - - HLA-DRB5 Q30154 VAR_060981 p.Val232Ile Polymorphism - - HLA-E P13747 VAR_004395 p.Gly104Arg Polymorphism - - HLA-E P13747 VAR_016651 p.Arg128Gly Polymorphism rs1264457 - HLA-E P13747 VAR_016652 p.Arg178Gly Polymorphism rs41562314 - HLA-E P13747 VAR_059510 p.Asn98Lys Polymorphism rs1059510 - HLA-F P30511 VAR_018327 p.Pro272Ser Polymorphism rs1736924 - HLA-F P30511 VAR_056525 p.Ala13Val Polymorphism rs17875379 - HLA-F P30511 VAR_056526 p.Pro71Gln Polymorphism rs17875380 - HLCS P50747 VAR_005084 p.Leu237Pro Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009196 p.Val333Glu Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009197 p.Thr462Ile Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009198 p.Val550Met Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009199 p.Asp571Asn Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_009200 p.Gly581Ser Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_013009 p.Arg508Trp Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_021218 p.Leu216Arg Disease rs28934602 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_021219 p.Asn511Lys Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_021220 p.Gly582Arg Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_035800 p.Glu42Asp Unclassified - - HLCS P50747 VAR_046507 p.Arg183Pro Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046508 p.Arg360Ser Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046509 p.Val363Asp Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046510 p.Tyr456Cys Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046511 p.Leu470Ser Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046512 p.Gly518Glu Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046513 p.Val547Gly Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046514 p.Asp615Tyr Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046515 p.Asp634Asn Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046516 p.Asp634Tyr Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLCS P50747 VAR_046517 p.Asp715Gly Disease - Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] HLF Q16534 VAR_008515 p.Ile253Phe Unclassified - - HLTF Q14527 VAR_029265 p.Arg819His Polymorphism rs2229361 - HLTF Q14527 VAR_052121 p.Asn311Ser Polymorphism rs2305868 - HLTF Q14527 VAR_052122 p.Glu362Gln Polymorphism rs2228257 - HLX Q14774 VAR_037162 p.Ser116Pro Polymorphism rs12141189 - HLX Q14774 VAR_037163 p.Pro356Leu Polymorphism rs2738755 - HLX Q14774 VAR_049582 p.Ala387Gly Polymorphism rs11578466 - HM13 Q8TCT9 VAR_014274 p.Ala259Pro Polymorphism rs1044419 - HMBS P08397 VAR_003638 p.Arg22Cys Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003639 p.Arg26His Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003640 p.Ala31Thr Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003641 p.Gln34Lys Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003642 p.Ala55Ser Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003643 p.Val93Phe Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003644 p.Lys98Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003645 p.Gly111Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003646 p.Arg116Gln Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003647 p.Arg116Trp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003648 p.Pro119Leu Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003649 p.Arg149Leu Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003650 p.Arg149Gln Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003651 p.Arg167Gln Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003652 p.Arg167Trp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003653 p.Arg173Gln Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003654 p.Arg173Trp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003655 p.Leu177Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003656 p.Arg195Cys Disease rs34413634 Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003657 p.Arg201Trp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003658 p.Val222Met Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003659 p.Glu223Lys Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003660 p.Arg225Gly Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003661 p.Leu238Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003662 p.Leu245Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003663 p.Cys247Phe Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003664 p.Cys247Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003665 p.Glu250Ala Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003666 p.Glu250Lys Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003667 p.Ala252Thr Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003668 p.Ala252Val Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003669 p.His256Asn Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003670 p.Thr269Ile Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003671 p.Gly274Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003672 p.Leu278Pro Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_003673 p.Gly280Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011001 p.Gly24Ser Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011002 p.Arg26Cys Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011003 p.Ser28Asn Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011004 p.Ala31Pro Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011005 p.Gln34Pro Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011006 p.Thr35Met Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011007 p.Leu42Ser Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011008 p.Asp61Asn Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011009 p.Leu85Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011010 p.Val90Gly Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011011 p.Val124Asp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011012 p.Asp178Asn Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011013 p.Val202Leu Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011014 p.Glu209Lys Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011015 p.Gly216Asp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011016 p.Gln217His Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011017 p.Gln217Leu Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011018 p.Ala219Asp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011020 p.Glu250Gln Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011021 p.Glu250Val Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011022 p.His256Tyr Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011023 p.Val267Met Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011024 p.Ala270Asp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011025 p.Ala270Gly Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011028 p.Gly335Asp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_011029 p.Gly335Ser Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025558 p.Met18Ile Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025559 p.Gln34Arg Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025560 p.Asp61Tyr Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025561 p.Thr78Pro Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025562 p.Glu80Gly Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025563 p.Leu81Pro Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025564 p.Glu86Val Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025565 p.Leu92Pro Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025567 p.Ser96Phe Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025568 p.Asp99Gly Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025569 p.Asp99His Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025570 p.Asp99Asn Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025571 p.Ile113Thr Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025572 p.Ala122Gly Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025573 p.Met212Val Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025574 p.Arg225Gln Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025575 p.Gly236Ser Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025576 p.Leu244Pro Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025577 p.Leu254Pro Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025578 p.Gly260Asp Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025579 p.Cys261Tyr Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMBS P08397 VAR_025580 p.Leu343Pro Disease - Acute intermittent porphyria (AIP) [MIM:176000] HMCN1 Q96RW7 VAR_024811 p.Ala1624Val Polymorphism - - HMCN1 Q96RW7 VAR_024812 p.Met2327Ile Polymorphism rs12067376 - HMCN1 Q96RW7 VAR_024813 p.Ile2418Thr Polymorphism rs12129650 - HMCN1 Q96RW7 VAR_024814 p.Glu2893Gly Polymorphism rs10798035 - HMCN1 Q96RW7 VAR_024815 p.His4084Tyr Polymorphism rs41317489 - HMCN1 Q96RW7 VAR_024816 p.Ala4720Thr Polymorphism rs6693069 - HMCN1 Q96RW7 VAR_024817 p.Asp5087Val Polymorphism rs41317507 - HMCN1 Q96RW7 VAR_024818 p.Gln5345Arg Disease - Age-related macular degeneration type 1 (ARMD1) [MIM:603075] HMCN1 Q96RW7 VAR_049875 p.Thr1056Ala Polymorphism rs7539719 - HMCN1 Q96RW7 VAR_049876 p.Val1184Phe Polymorphism rs12239296 - HMCN1 Q96RW7 VAR_049877 p.Gln4437Arg Polymorphism rs10911825 - HMGB1 P09429 VAR_046451 p.Gly11Arg Unclassified - Gastric-carcinoma cell line HMGB1 P09429 VAR_046452 p.Ala149Glu Unclassified - Gastric-carcinoma cell line HMGB1 P09429 VAR_046453 p.Glu156Gln Polymorphism - - HMGB1 P09429 VAR_046454 p.Asp190Gly Unclassified - Gastric-carcinoma cell line HMGB3 O15347 VAR_049558 p.Thr51Ala Polymorphism rs16995792 - HMGB3 O15347 VAR_064162 p.Glu56Gln Polymorphism - - HMGB4 Q8WW32 VAR_055951 p.Lys59Arg Polymorphism rs11542686 - HMGCL P35914 VAR_003744 p.Arg41Gln Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003745 p.Asp42Glu Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003746 p.Asp42Gly Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003747 p.Asp42His Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003748 p.Val70Leu Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_003749 p.His233Arg Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_014202 p.Glu279Lys Disease rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058440 p.Glu37Lys Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058441 p.Lys48Asn Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058442 p.Ser75Arg Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058443 p.Ser142Phe Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058444 p.Cys174Tyr Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058445 p.Phe192Ser Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058446 p.Ile200Phe Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058447 p.Ser201Tyr Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058448 p.Gly203Glu Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058449 p.Asp204Asn Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_058450 p.Leu263Pro Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCL P35914 VAR_065453 p.Arg165Gln Disease - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] HMGCR P04035 VAR_011954 p.Ile638Val Polymorphism rs5908 - HMGCS2 P54868 VAR_032711 p.Phe174Leu Disease - HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] HMGCS2 P54868 VAR_032757 p.Val54Met Disease rs28937320 HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] HMGCS2 P54868 VAR_032758 p.Tyr167Cys Disease - HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] HMGCS2 P54868 VAR_032759 p.Gly212Arg Disease - HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] HMGCS2 P54868 VAR_032760 p.Arg500His Disease - HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] HMGN2 P05204 VAR_003716 p.Glu7Lys Unclassified - - HMGN2P46 Q86SG4 VAR_022865 p.Cys91Arg Polymorphism rs8042811 - HMGXB4 Q9UGU5 VAR_049559 p.Gly165Val Polymorphism rs1053593 - HMHA1 Q92619 VAR_042693 p.Arg139His Polymorphism rs1801284 - HMHA1 Q92619 VAR_042694 p.Glu259Asp Polymorphism rs2074442 - HMHA1 Q92619 VAR_042695 p.Ser439Gly Polymorphism rs7251797 - HMHA1 Q92619 VAR_042696 p.Met515Ile Polymorphism rs36084354 - HMHA1 Q92619 VAR_042697 p.Ala886Pro Polymorphism rs34569196 - HMHB1 O97980 VAR_042698 p.His16Tyr Polymorphism rs161557 - HMMR O75330 VAR_020044 p.Val368Ala Polymorphism rs299290 - HMMR O75330 VAR_024155 p.Arg92Cys Polymorphism rs299284 - HMMR O75330 VAR_024156 p.Arg332His Polymorphism rs2303078 - HMMR O75330 VAR_024157 p.Ala484Val Polymorphism rs299295 - HMMR O75330 VAR_031661 p.Asn305Lys Polymorphism rs2303077 - HMMR O75330 VAR_056917 p.Asn320Lys Polymorphism rs2303077 - HMMR O75330 VAR_056918 p.Asp557His Polymorphism rs2230362 - HMMR O75330 VAR_056919 p.Leu595Ile Polymorphism rs2230363 - HMOX1 P09601 VAR_019165 p.Asp7His Polymorphism rs2071747 - HMOX1 P09601 VAR_022156 p.Pro106Leu Polymorphism rs9282702 - HMOX2 P30519 VAR_021067 p.Arg137Gln Polymorphism rs17884623 - HMOX2 P30519 VAR_021068 p.Pro146Leu Polymorphism rs17880805 - HNF1A P20823 VAR_003756 p.Tyr122Cys Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003757 p.Ser142Phe Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003758 p.Arg159Gln Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003759 p.Arg272His Disease - Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520] HNF1A P20823 VAR_003759 p.Arg272His Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003760 p.Pro447Leu Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_003761 p.Arg583Gly Disease - Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520] HNF1A P20823 VAR_007905 p.Ile27Leu Polymorphism rs1169288 - HNF1A P20823 VAR_007906 p.Ser487Asn Polymorphism rs2464196 - HNF1A P20823 VAR_010537 p.Leu12His Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010538 p.Gly31Asp Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010539 p.Glu48Lys Disease - Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520] HNF1A P20823 VAR_010540 p.Ala98Val Polymorphism rs1800574 - HNF1A P20823 VAR_010541 p.Leu107Arg Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010542 p.Lys117Glu Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010543 p.Ile128Asn Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010544 p.Pro129Thr Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010545 p.Arg131Gln Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010546 p.Arg131Trp Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010547 p.Val133Met Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010548 p.His143Tyr Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010549 p.Lys158Asn Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010550 p.Arg159Trp Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010551 p.Ala161Thr Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010552 p.Gly191Asp Unclassified - - HNF1A P20823 VAR_010554 p.Arg203Cys Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010555 p.Lys205Gln Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010556 p.Arg229Gln Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010557 p.Cys241Gly Disease - Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520] HNF1A P20823 VAR_010557 p.Cys241Gly Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010558 p.Leu254Met Polymorphism - - HNF1A P20823 VAR_010559 p.Val259Asp Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010560 p.Thr260Met Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010561 p.Arg263Cys Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010562 p.Arg271Trp Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010563 p.Arg272Cys Unclassified - - HNF1A P20823 VAR_010564 p.Gly319Ser Unclassified - - HNF1A P20823 VAR_010565 p.Gly415Arg Disease - Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520] HNF1A P20823 VAR_010566 p.His514Arg Polymorphism - - HNF1A P20823 VAR_010567 p.Pro519Leu Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010568 p.Thr537Arg Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010569 p.Gly574Ser Polymorphism rs1169305 - HNF1A P20823 VAR_010570 p.Arg583Gln Unclassified - - HNF1A P20823 VAR_010571 p.Ser594Ile Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010572 p.Glu619Lys Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_010573 p.Thr620Ile Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_012483 p.Gly20Arg Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_012484 p.Arg203His Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_012485 p.Ser432Cys Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_012486 p.Ile618Met Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1A P20823 VAR_033088 p.Asn127Tyr Unclassified - A hepatocellular carcinoma sample HNF1A P20823 VAR_033089 p.Trp165Cys Unclassified - A hepatocellular carcinoma sample HNF1A P20823 VAR_033090 p.Trp206Cys Unclassified - - HNF1A P20823 VAR_033091 p.Trp206Leu Unclassified - - HNF1A P20823 VAR_033092 p.Asn237Ser Unclassified - - HNF1A P20823 VAR_033093 p.Arg244Gly Unclassified - - HNF1A P20823 VAR_033094 p.Gln250Pro Unclassified - A hepatocellular carcinoma sample HNF1A P20823 VAR_033095 p.Phe268Cys Unclassified - - HNF1A P20823 VAR_033096 p.Lys273Glu Unclassified - - HNF1A P20823 VAR_063069 p.Arg200Trp Disease - Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] HNF1B P35680 VAR_012058 p.Gly492Ser Polymorphism rs1805035 - HNF1B P35680 VAR_017665 p.Ser465Arg Disease - Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853] HNF1B P35680 VAR_046012 p.Ser36Phe Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046013 p.Val61Gly Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046014 p.Gly76Cys Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046015 p.Val110Gly Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046016 p.Arg112Pro Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046017 p.Gln136Glu Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046018 p.Ser148Leu Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046019 p.Ser148Trp Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046020 p.Ser151Pro Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046021 p.His153Asn Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046022 p.Lys156Glu Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046023 p.Lys164Gln Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046024 p.Arg165His Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046025 p.Arg235Gln Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046026 p.Ala241Thr Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046027 p.Glu260Asp Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046028 p.Arg276Gly Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046029 p.Arg276Gln Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046030 p.Gly285Asp Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046031 p.Arg295Cys Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046032 p.Arg295His Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046033 p.Arg295Pro Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B P35680 VAR_046034 p.Gly370Ser Disease - Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF4A P41235 VAR_004668 p.Arg136Trp Disease - Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850] HNF4A P41235 VAR_004669 p.Thr139Ile Polymorphism rs1800961 - HNF4A P41235 VAR_004670 p.Val402Ile Disease - Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850] HNF4A P41235 VAR_010600 p.Val264Met Unclassified - - HNF4A P41235 VAR_010601 p.Glu285Gln Disease - Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850] HNF4A P41235 VAR_011785 p.Pro445Ser Polymorphism rs1063239 - HNF4A P41235 VAR_062267 p.Val453Ile Polymorphism - - HNF4G Q14541 VAR_009704 p.Met190Ile Polymorphism rs1805098 - HNMT P50135 VAR_010252 p.Thr105Ile Polymorphism rs1801105 - HNRNPA1L2 Q32P51 VAR_038904 p.Asn215Asp Polymorphism rs9536212 - HNRNPA1 P09651 VAR_014711 p.Asn73Ser Polymorphism rs6533 - HNRNPCL1 O60812 VAR_033723 p.Val258Asp Polymorphism rs2076063 - HNRNPCL1 O60812 VAR_052225 p.Gln208His Polymorphism rs6702447 - HNRNPCL1 O60812 VAR_059824 p.Asp81Val Polymorphism rs2982092 - HNRNPC P07910 VAR_052224 p.Arg167Gln Polymorphism rs3272 - HNRNPF P52597 VAR_027999 p.Lys87Arg Polymorphism rs17851426 - HNRNPH3 P31942 VAR_020333 p.Asn163Ser Polymorphism rs2273903 - HNRNPH3 P31942 VAR_052226 p.Gly284Ala Polymorphism rs16925347 - HNRNPUL1 Q9BUJ2 VAR_025606 p.Gly91Cys Polymorphism rs17849624 - HNRNPU Q00839 VAR_014712 p.Phe712Leu Polymorphism rs1052660 - HOGA1 Q86XE5 VAR_064035 p.Cys257Gly Disease - Hyperoxaluria primary type 3 (HP3) [MIM:613616] HOGA1 Q86XE5 VAR_064036 p.Gly287Val Disease - Hyperoxaluria primary type 3 (HP3) [MIM:613616] HOMER2 Q9NSB8 VAR_053366 p.Arg219His Polymorphism rs7175005 - HOMER2 Q9NSB8 VAR_053367 p.Ile239Ser Polymorphism rs17158223 - HOMER3 Q9NSC5 VAR_017410 p.Ser342Arg Polymorphism rs1059240 - HOMEZ Q8IX15 VAR_055956 p.Ala278Thr Polymorphism rs10131813 - HOOK1 Q9UJC3 VAR_035709 p.Ser433Leu Unclassified - A breast cancer sample HOOK2 Q96ED9 VAR_017575 p.Gly10Arg Polymorphism rs2305376 - HOOK2 Q96ED9 VAR_017576 p.His488Gln Polymorphism rs897804 - HOOK3 Q86VS8 VAR_035710 p.Gln221Arg Unclassified - A breast cancer sample HOOK3 Q86VS8 VAR_049363 p.Tyr670Ser Polymorphism rs34131505 - HORMAD1 Q86X24 VAR_031801 p.Thr267Ile Polymorphism rs1336900 - HORMAD2 Q8N7B1 VAR_031802 p.Ala2Thr Polymorphism rs34150968 - HORMAD2 Q8N7B1 VAR_031803 p.Val20Leu Polymorphism rs34305723 - HOXA13 P31271 VAR_017775 p.Gln371Leu Disease - Guttmacher syndrome (GUTTS) [MIM:176305] HOXA13 P31271 VAR_017776 p.Asn372His Disease - Hand-foot-genital syndrome (HFGS) [MIM:140000] HOXA1 P49639 VAR_010305 p.His73Arg Polymorphism rs10951154 - HOXA1 P49639 VAR_030576 p.Glu189Ala Polymorphism rs17500494 - HOXA2 O43364 VAR_011880 p.Met196Leu Polymorphism rs941002 - HOXA2 O43364 VAR_048023 p.Gln186Lys Disease - Microtia hearing impairment and cleft palate (MHICP) [MIM:612290] HOXA3 O43365 VAR_036264 p.Asp42Asn Unclassified - A breast cancer sample HOXA3 O43365 VAR_036265 p.Ala131Thr Unclassified - A breast cancer sample HOXA4 Q00056 VAR_028414 p.Thr70Pro Polymorphism rs6944345 - HOXA4 Q00056 VAR_028415 p.Leu140Pro Polymorphism rs10251056 - HOXA4 Q00056 VAR_028416 p.Leu178Phe Polymorphism rs13246088 - HOXA4 Q00056 VAR_028417 p.Thr251Pro Polymorphism rs6976847 - HOXA4 Q00056 VAR_028418 p.Pro317Ser Polymorphism rs17500757 - HOXA4 Q00056 VAR_036266 p.Gly37Asp Unclassified - A breast cancer sample HOXA7 P31268 VAR_028001 p.Ala18Thr Polymorphism rs2301721 - HOXB13 Q92826 VAR_031849 p.Thr41Met Polymorphism - - HOXB1 P14653 VAR_055959 p.Thr71Asn Polymorphism rs35254561 - HOXB1 P14653 VAR_055960 p.Gln103His Polymorphism rs12939811 - HOXB1 P14653 VAR_058129 p.Glu265Gly Polymorphism rs7226137 - HOXB3 P14651 VAR_047729 p.Pro82Thr Polymorphism rs2229304 - HOXB7 P09629 VAR_058204 p.Thr9Ala Polymorphism rs7406910 - HOXC11 O43248 VAR_031850 p.Pro130Ser Polymorphism - - HOXC11 O43248 VAR_034002 p.Ala222Val Polymorphism rs12427129 - HOXC13 P31276 VAR_012357 p.Ser50Ile Polymorphism rs1867298 - HOXC4 P09017 VAR_055961 p.Arg158Leu Polymorphism rs11835301 - HOXC4 P09017 VAR_055962 p.Asn178Ser Polymorphism rs35406888 - HOXC9 P31274 VAR_036267 p.Gly87Ser Unclassified - A colorectal cancer sample HOXD10 P28358 VAR_022582 p.Met319Lys Disease - Congenital vertical talus (CVT) [MIM:192950] HOXD11 P31277 VAR_031647 p.Gly245Asp Polymorphism - - HOXD13 P35453 VAR_015952 p.Ser316Cys Disease rs28928892 Brachydactyly type D (BDD) [MIM:113200] HOXD13 P35453 VAR_015952 p.Ser316Cys Disease rs28928892 Brachydactyly type E (BDE1) [MIM:113300] HOXD13 P35453 VAR_015953 p.Ile322Leu Disease rs28928891 Brachydactyly type E (BDE1) [MIM:113300] HOXD13 P35453 VAR_031650 p.Ser252Ala Polymorphism rs35290213 - HOXD13 P35453 VAR_031651 p.Arg306Trp Disease rs28933082 Synpolydactyly 1 (SPD1) [MIM:186000] HOXD13 P35453 VAR_031652 p.Gln325Arg Disease - Syndactyly type 5 (SDTY5) [MIM:186300] HOXD1 Q9GZZ0 VAR_034003 p.Ala296Thr Polymorphism rs6710142 - HOXD3 P31249 VAR_011881 p.Ser129Cys Polymorphism rs1051932 - HPCA P84074 VAR_048662 p.Glu21Asp Polymorphism rs11554958 - HPD P32754 VAR_015444 p.Ala33Thr Polymorphism rs1154510 - HPD P32754 VAR_015445 p.Tyr160Cys Disease rs28934278 Tyrosinemia type 3 (TYRO3) [MIM:276710] HPD P32754 VAR_015446 p.Ile267Phe Polymorphism - - HPD P32754 VAR_015447 p.Ala268Val Disease - Tyrosinemia type 3 (TYRO3) [MIM:276710] HPD P32754 VAR_015448 p.Ile335Met Disease - Tyrosinemia type 3 (TYRO3) [MIM:276710] HPD P32754 VAR_015449 p.Val340Leu Polymorphism rs36023382 - HPD P32754 VAR_048101 p.Arg113Gln Polymorphism rs11833399 - HPGD P15428 VAR_006972 p.Tyr217Cys Polymorphism - - HPGD P15428 VAR_046209 p.Ala140Pro Disease - Cranioosteoarthropathy (COA) [MIM:259100] HPGD P15428 VAR_060792 p.Ser193Pro Disease - Isolated congenital nail clubbing (ICNC) [MIM:119900] HP P00738 VAR_005294 p.Asn129Asp Polymorphism - - HP P00738 VAR_017113 p.Glu130Lys Polymorphism - - HP P00738 VAR_017114 p.Asp397His Polymorphism rs12646 - HPR P00739 VAR_014571 p.His339Asp Polymorphism rs12646 - HPR P00739 VAR_057161 p.Thr27Met Polymorphism rs11642506 - HPR P00739 VAR_057162 p.Asn42His Polymorphism rs152832 - HPR P00739 VAR_057163 p.Arg58Lys Polymorphism rs152833 - HPR P00739 VAR_057164 p.Arg203Lys Polymorphism rs2021171 - HPR P00739 VAR_057165 p.Val283Ala Polymorphism rs1065360 - HPR P00739 VAR_059789 p.Ala156Val Polymorphism rs1049933 - HPRT1 P00492 VAR_006750 p.Gly7Asp Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006751 p.Val8Gly Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006752 p.Gly16Asp Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006753 p.Gly16Ser Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006754 p.Asp20Val Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006755 p.Cys23Trp Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006756 p.Leu41Pro Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006757 p.Ile42Phe Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006758 p.Ile42Thr Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006760 p.Arg45Lys Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006761 p.Arg48His Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006762 p.Ala50Val Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006763 p.Ala50Pro Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006764 p.Arg51Gly Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006765 p.Arg51Pro Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006766 p.Asp52Gly Unclassified - - HPRT1 P00492 VAR_006767 p.Val53Ala Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006768 p.Val53Met Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006769 p.Met54Leu Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006770 p.Met57Thr Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006771 p.Gly58Arg Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006772 p.His61Arg Unclassified - - HPRT1 P00492 VAR_006773 p.Gly70Glu Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006774 p.Gly71Arg Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006775 p.Phe74Leu Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006776 p.Leu78Val Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006777 p.Asp80Val Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006778 p.Ser104Arg Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006779 p.Ser110Leu Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006780 p.Val130Asp Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006781 p.Leu131Ser Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006782 p.Ile132Met Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006783 p.Ile132Thr Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006784 p.Asp135Gly Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006785 p.Met143Lys Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006787 p.Ala161Ser Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006788 p.Ser162Arg Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006789 p.Thr168Ile Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006790 p.Pro176Leu Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006791 p.Asp177Val Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006792 p.Asp177Tyr Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006795 p.Val188Ala Unclassified - - HPRT1 P00492 VAR_006796 p.Ile183Thr Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006797 p.Asp194Glu Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006798 p.Asp194Asn Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006799 p.Tyr195Cys Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006800 p.Phe199Val Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006801 p.Asp201Gly Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006802 p.Asp201Asn Disease - Gout HPRT-related (GOUT-HPRT) [MIM:300323] HPRT1 P00492 VAR_006803 p.Asp201Tyr Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006804 p.His204Asp Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006805 p.His204Arg Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPRT1 P00492 VAR_006806 p.Cys206Tyr Disease - Lesch-Nyhan syndrome (LNS) [MIM:300322] HPS1 Q92902 VAR_005290 p.Gly283Trp Polymorphism rs11592273 - HPS1 Q92902 VAR_005291 p.Pro491Arg Polymorphism rs2296434 - HPS1 Q92902 VAR_005292 p.Gln603Arg Polymorphism rs2296436 - HPS1 Q92902 VAR_005293 p.Val630Ile Polymorphism - - HPS1 Q92902 VAR_014887 p.Glu100Asp Polymorphism rs1801285 - HPS1 Q92902 VAR_014888 p.Ala186Val Polymorphism rs1801286 - HPS1 Q92902 VAR_038378 p.Ala480Thr Polymorphism rs17109853 - HPS3 Q969F9 VAR_013251 p.Arg397Trp Disease - Hermansky-Pudlak syndrome type 3 (HPS3) [MIM:614072] HPS3 Q969F9 VAR_035928 p.Arg397Gln Unclassified - A colorectal cancer sample HPS3 Q969F9 VAR_038379 p.Glu275Lys Polymorphism rs34388030 - HPS4 Q9NQG7 VAR_021836 p.Gln625His Polymorphism rs1894704 - HPS4 Q9NQG7 VAR_024158 p.Leu443Val Polymorphism rs2014410 - HPS4 Q9NQG7 VAR_024159 p.His606Tyr Polymorphism rs1894706 - HPS4 Q9NQG7 VAR_025006 p.Glu229Gly Polymorphism rs713998 - HPS4 Q9NQG7 VAR_025007 p.Val552Met Polymorphism rs5752330 - HPS5 Q9UPZ3 VAR_015513 p.Leu417Met Polymorphism rs7128017 - HPS5 Q9UPZ3 VAR_062285 p.Leu624Arg Disease - Hermansky-Pudlak syndrome type 5 (HPS5) [MIM:614074] HPS5 Q9UPZ3 VAR_062286 p.Thr1098Ile Disease - Hermansky-Pudlak syndrome type 5 (HPS5) [MIM:614074] HPSE2 Q8WWQ2 VAR_023601 p.Tyr579Phe Polymorphism rs10883100 - HPSE2 Q8WWQ2 VAR_030472 p.Ala315Thr Polymorphism rs17110744 - HPSE Q9Y251 VAR_023600 p.Asn260Ser Unclassified - Some hepatocellular carcinoma HPX P02790 VAR_033990 p.Arg83Trp Polymorphism rs12117 - HPX P02790 VAR_047137 p.Asp52Asn Polymorphism rs10839564 - HRASLS5 Q96KN8 VAR_024486 p.Ala93Pro Polymorphism rs940611 - HRASLS5 Q96KN8 VAR_049477 p.Ser31Gly Polymorphism rs10897424 - HRASLS5 Q96KN8 VAR_049478 p.Gln214Arg Polymorphism rs35735923 - HRASLS5 Q96KN8 VAR_049479 p.Ala258Val Polymorphism rs35375575 - HRAS P01112 VAR_006836 p.Gly12Val Disease - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS P01112 VAR_006836 p.Gly12Val Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_006837 p.Gly12Ser Disease - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS P01112 VAR_006837 p.Gly12Ser Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_006837 p.Gly12Ser Disease - Oral squamous cell carcinoma (OSCC) HRAS P01112 VAR_006838 p.Gln61Leu Unclassified - Melanoma HRAS P01112 VAR_026106 p.Gly12Ala Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_026107 p.Gly13Cys Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_026108 p.Gly13Asp Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_045975 p.Gly12Cys Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_045976 p.Gly12Glu Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_045977 p.Gln22Lys Disease - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS P01112 VAR_045978 p.Thr58Ile Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_045979 p.Gln61Lys Unclassified rs28933406 Follicular thyroid carcinoma samples HRAS P01112 VAR_045980 p.Glu63Lys Disease - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS P01112 VAR_045981 p.Lys117Arg Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_045982 p.Ala146Thr Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRAS P01112 VAR_045983 p.Ala146Val Disease - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] HRC P23327 VAR_005623 p.Ser96Ala Polymorphism rs3745297 - HRC P23327 VAR_021931 p.Ser43Asn Polymorphism rs3745298 - HRG P04196 VAR_014528 p.Pro204Ser Polymorphism rs9898 - HRG P04196 VAR_020488 p.Asp118Gly Polymorphism rs3733008 - HRG P04196 VAR_020489 p.His340Arg Polymorphism rs2228243 - HRG P04196 VAR_022080 p.Ile180Thr Polymorphism rs10770 - HRG P04196 VAR_024427 p.Gly436Arg Polymorphism rs2229331 - HRG P04196 VAR_024428 p.Arg448Cys Polymorphism rs1042445 - HRG P04196 VAR_024429 p.Asn493Ile Polymorphism rs1042464 - HRG P04196 VAR_048856 p.Ser79Leu Polymorphism rs4516605 - HRG P04196 VAR_063000 p.Gly103Glu Disease - Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116] HRG P04196 VAR_063001 p.Cys241Arg Disease - Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116] HRH1 P35367 VAR_033476 p.Gly270Glu Polymorphism rs7651620 - HRH1 P35367 VAR_035761 p.Asp385Glu Unclassified - A colorectal cancer sample HRH1 P35367 VAR_049410 p.Lys19Asn Polymorphism rs2067466 - HRH2 P25021 VAR_009958 p.Asn217Asp Polymorphism - - HRH2 P25021 VAR_009959 p.Lys231Arg Polymorphism - - HRH2 P25021 VAR_009960 p.Val268Met Polymorphism - - HRH3 Q9Y5N1 VAR_012235 p.Ala280Val Unclassified - - HRH4 Q9H3N8 VAR_033477 p.Ala138Val Polymorphism rs11665084 - HRH4 Q9H3N8 VAR_033478 p.His206Arg Polymorphism rs11662595 - HRNR Q86YZ3 VAR_048494 p.Arg85His Polymorphism rs11204937 - HRNR Q86YZ3 VAR_048495 p.Gly167Asp Polymorphism rs12741518 - HRNR Q86YZ3 VAR_048496 p.Glu473Gly Polymorphism rs6587648 - HRNR Q86YZ3 VAR_048497 p.Gly492Arg Polymorphism rs6587647 - HRNR Q86YZ3 VAR_048498 p.Arg664Gln Polymorphism rs7520249 - HRNR Q86YZ3 VAR_048499 p.Ser799Thr Polymorphism rs6662450 - HRNR Q86YZ3 VAR_059174 p.His273Gln Polymorphism rs7545406 - HRNR Q86YZ3 VAR_059175 p.Ser2435Gly Polymorphism rs4248393 - HRNR Q86YZ3 VAR_059176 p.Gly2461Ser Polymorphism rs6659183 - HRNR Q86YZ3 VAR_061053 p.Arg122Trp Polymorphism rs57277761 - HRNR Q86YZ3 VAR_061054 p.Gln376Arg Polymorphism rs6587649 - HRNR Q86YZ3 VAR_061055 p.Gly427Asp Polymorphism rs6666097 - HRNR Q86YZ3 VAR_061056 p.Tyr517Cys Polymorphism rs41266134 - HR O43593 VAR_005265 p.Arg620Gln Polymorphism - - HR O43593 VAR_005266 p.Thr1022Ala Disease rs7014851 Alopecia universalis congenita (ALUNC) [MIM:203655] HR O43593 VAR_005267 p.Val1136Asp Disease - Alopecia universalis congenita (ALUNC) [MIM:203655] HR O43593 VAR_016222 p.Asp1012Asn Disease - Alopecia universalis congenita (ALUNC) [MIM:203655] HR O43593 VAR_027806 p.Gly337Asp Polymorphism rs12675375 - HR O43593 VAR_027807 p.Pro924Leu Polymorphism rs11990421 - HR O43593 VAR_035927 p.Arg633Gln Unclassified - A colorectal cancer sample HR O43593 VAR_061664 p.Leu526Pro Polymorphism rs56140348 - HS1BP3 Q53T59 VAR_037741 p.Val260Met Polymorphism rs2305458 - HS1BP3 Q53T59 VAR_037742 p.Gly273Arg Polymorphism rs35589938 - HS1BP3 Q53T59 VAR_037743 p.Pro348Arg Polymorphism rs35579164 - HS1BP3 Q53T59 VAR_037744 p.Ala388Thr Polymorphism rs3732149 - HS3ST1 O14792 VAR_021515 p.Pro22Thr Polymorphism rs11559238 - HS3ST1 O14792 VAR_052529 p.Lys295Arg Polymorphism rs34719057 - HS3ST2 Q9Y278 VAR_052530 p.Pro339Ala Polymorphism rs17725080 - HS3ST5 Q8IZT8 VAR_052531 p.Ile247Asn Polymorphism rs17793043 - HS6ST2 Q96MM7 VAR_061828 p.Lys127Asn Polymorphism rs7053397 - HS6ST3 Q8IZP7 VAR_028159 p.Lys265Arg Polymorphism rs9516771 - HSCB Q8IWL3 VAR_048916 p.Tyr73Cys Polymorphism rs17886090 - HSCB Q8IWL3 VAR_048917 p.Ile163Met Polymorphism rs17884212 - HSD11B1 P28845 VAR_035845 p.Val148Glu Unclassified - A breast cancer sample HSD11B2 P80365 VAR_006958 p.Arg208Cys Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_006959 p.Arg213Cys Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015635 p.Leu179Arg Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015636 p.Ser180Phe Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015637 p.Arg186Cys Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015638 p.Arg208His Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015639 p.Pro227Leu Unclassified - - HSD11B2 P80365 VAR_015640 p.Ala237Val Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015641 p.Asp244Asn Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015642 p.Leu250Arg Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015644 p.Arg279Cys Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015645 p.Ala328Val Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_015646 p.Tyr338His Disease - Apparent mineralocorticoid excess (AME) [MIM:218030] HSD11B2 P80365 VAR_052317 p.Arg147His Polymorphism rs13306425 - HSD17B10 Q99714 VAR_015987 p.Leu122Val Disease rs28935476 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438] HSD17B10 Q99714 VAR_015988 p.Arg130Cys Disease rs28935475 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438] HSD17B10 Q99714 VAR_032093 p.Asn247Ser Disease - 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438] HSD17B12 Q53GQ0 VAR_027277 p.Ser280Leu Polymorphism rs11555762 - HSD17B14 Q9BPX1 VAR_052307 p.Asn31Asp Polymorphism rs8110220 - HSD17B14 Q9BPX1 VAR_052308 p.Arg130Trp Polymorphism rs35299026 - HSD17B1 P14061 VAR_006951 p.Ala238Val Polymorphism - - HSD17B1 P14061 VAR_006952 p.Gly313Ser Polymorphism rs605059 - HSD17B2 P37059 VAR_018852 p.Ala121Thr Polymorphism rs8191136 - HSD17B3 P37058 VAR_006953 p.Arg80Gln Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_006954 p.Arg80Trp Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_006955 p.Ala203Val Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_006956 p.Ser232Leu Disease rs28939085 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_006957 p.Met235Val Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_014870 p.Val31Ile Polymorphism rs2066480 - HSD17B3 P37058 VAR_014871 p.Gly289Ser Polymorphism rs2066479 - HSD17B3 P37058 VAR_016067 p.Ala56Thr Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016068 p.Ser65Leu Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016069 p.Asn130Ser Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016070 p.Gln176Pro Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016071 p.Val205Glu Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016072 p.Phe208Ile Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016073 p.Cys268Tyr Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016074 p.Pro282Leu Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_016203 p.Glu215Asp Disease - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] HSD17B3 P37058 VAR_061844 p.Gly289Cys Polymorphism rs2066479 - HSD17B3 P37058 VAR_061845 p.Gly289Arg Polymorphism rs2066479 - HSD17B4 P51659 VAR_014872 p.Arg106His Polymorphism rs25640 - HSD17B4 P51659 VAR_014873 p.Trp511Arg Polymorphism rs11539471 - HSD17B4 P51659 VAR_014874 p.Ile559Val Polymorphism rs11205 - HSD17B4 P51659 VAR_024625 p.Thr292Ser Polymorphism rs1143650 - HSD17B4 P51659 VAR_037576 p.Gly16Ser Disease - D-bifunctional protein deficiency (DBPD) [MIM:261515] HSD17B4 P51659 VAR_052309 p.Phe90Leu Polymorphism rs28943588 - HSD17B4 P51659 VAR_052310 p.Lys140Asn Polymorphism rs28943589 - HSD17B4 P51659 VAR_052311 p.Ala427Val Polymorphism rs28943590 - HSD17B4 P51659 VAR_052312 p.Ala491Thr Polymorphism rs28943591 - HSD17B4 P51659 VAR_052313 p.Ala606Ser Polymorphism rs15228 - HSD17B4 P51659 VAR_052314 p.Thr687Ile Polymorphism rs28943592 - HSD17B4 P51659 VAR_052315 p.Met728Val Polymorphism rs28943594 - HSD17B8 Q92506 VAR_035844 p.Val158Leu Unclassified - A breast cancer sample HSD17B8 Q92506 VAR_052316 p.His190Arg Polymorphism rs34491699 - HSD3B1 P14060 VAR_000005 p.Thr367Asn Polymorphism rs1047303 - HSD3B1 P14060 VAR_014174 p.Ile79Val Polymorphism rs6201 - HSD3B1 P14060 VAR_014175 p.Phe286Leu Polymorphism rs6205 - HSD3B1 P14060 VAR_048096 p.Thr54Ile Polymorphism rs3088283 - HSD3B1 P14060 VAR_048097 p.Arg71Ile Polymorphism rs4986952 - HSD3B1 P14060 VAR_048098 p.Gly90Ser Polymorphism rs6684974 - HSD3B2 P26439 VAR_000006 p.Glu142Lys Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000007 p.Leu205Pro Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000008 p.Ala245Pro Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000009 p.Tyr253Asn Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000010 p.Tyr254Asp Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_000011 p.Thr259Arg Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010517 p.Ala10Glu Disease rs28934880 Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010518 p.Ala10Val Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010519 p.Gly15Asp Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010520 p.Ala82Thr Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010521 p.Asn100Ser Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010522 p.Leu108Trp Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010523 p.Gly129Arg Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010524 p.Pro155Leu Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010525 p.Ala167Val Disease rs35486059 Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010526 p.Leu173Arg Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010527 p.Pro186Leu Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010528 p.Ser213Gly Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010529 p.Lys216Glu Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010530 p.Pro222His Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010531 p.Pro222Gln Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010533 p.Leu236Ser Disease rs35887327 Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010534 p.Thr259Met Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_010535 p.Gly294Val Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_014818 p.Glu94Gln Polymorphism rs6211 - HSD3B2 P26439 VAR_015411 p.Pro222Thr Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B2 P26439 VAR_048099 p.Asp74Asn Polymorphism rs4986954 - HSD3B2 P26439 VAR_065665 p.Pro341Leu Disease - Adrenal hyperplasia type 2 (AH2) [MIM:201810] HSD3B7 Q9H2F3 VAR_031040 p.Thr250Ala Polymorphism rs9938550 - HSD3B7 Q9H2F3 VAR_048100 p.Leu347Pro Polymorphism rs34212827 - HSD3B7 Q9H2F3 VAR_054775 p.Gly19Ser Disease - Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765] HSD3B7 Q9H2F3 VAR_054776 p.Glu147Lys Disease - Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765] HSD47 Q6ZVN6 VAR_038905 p.Ser53Ile Polymorphism rs2289585 - HSDL1 Q3SXM5 VAR_037693 p.Pro248Ser Polymorphism rs11540436 - HSDL1 Q3SXM5 VAR_037694 p.Ser327Cys Polymorphism rs4378600 - HSF4 Q9ULV5 VAR_017558 p.Ala19Asp Disease - Cataract, zonular (CZ) [MIM:116800] HSF4 Q9ULV5 VAR_017559 p.Ile86Val Disease - Cataract, zonular (CZ) [MIM:116800] HSF4 Q9ULV5 VAR_017560 p.Leu114Pro Disease - Cataract, zonular (CZ) [MIM:116800] HSF4 Q9ULV5 VAR_017561 p.Arg119Cys Disease rs28937573 Cataract Marner type (CAM) [MIM:116800] HSF4 Q9ULV5 VAR_029018 p.Arg73His Disease - Cataract, zonular (CZ) [MIM:116800] HSF5 Q4G112 VAR_043115 p.Asn329Thr Polymorphism rs1017089 - HSF5 Q4G112 VAR_055935 p.Ser473Asn Polymorphism rs3803752 - HSP90AA2 Q14568 VAR_039732 p.Thr235Ala Polymorphism rs1826330 - HSP90AA2 Q14568 VAR_039733 p.Cys312Tyr Polymorphism rs2726836 - HSP90AB1 P08238 VAR_049624 p.Lys349Glu Polymorphism rs11538975 - HSPA12B Q96MM6 VAR_049621 p.Val23Leu Polymorphism rs34414870 - HSPA12B Q96MM6 VAR_059362 p.Arg270His Polymorphism rs6139194 - HSPA14 Q0VDF9 VAR_036347 p.Ala85Val Unclassified - A breast cancer sample HSPA1A P08107 VAR_029053 p.Glu110Asp Polymorphism rs17856061 - HSPA1A P08107 VAR_029054 p.Asn499Ser Polymorphism rs17855850 - HSPA1A P08107 VAR_032152 p.Ile95Val Polymorphism - - HSPA1A P08107 VAR_032153 p.Ala467Val Polymorphism - - HSPA1L P34931 VAR_003820 p.Thr493Met Polymorphism rs2227956 - HSPA1L P34931 VAR_025841 p.Ala8Pro Polymorphism rs9469057 - HSPA1L P34931 VAR_025842 p.Ala268Thr Polymorphism - - HSPA1L P34931 VAR_025843 p.Asp294Gly Polymorphism - - HSPA1L P34931 VAR_025844 p.Thr479Met Polymorphism rs482145 - HSPA1L P34931 VAR_025845 p.Glu558Ala Polymorphism rs2227955 - HSPA1L P34931 VAR_025846 p.Glu602Lys Polymorphism rs2075800 - HSPA2 P54652 VAR_032706 p.Cys191Ser Polymorphism - - HSPA2 P54652 VAR_032707 p.Lys496Glu Polymorphism - - HSPA4L O95757 VAR_025405 p.Leu211Ser Polymorphism rs1380154 - HSPA4L O95757 VAR_031214 p.Asn216Thr Polymorphism rs12507229 - HSPA4L O95757 VAR_055966 p.Ile601Thr Polymorphism rs35518193 - HSPA5 P11021 VAR_025815 p.Asn543His Polymorphism rs35356639 - HSPA6 P17066 VAR_024182 p.Leu198Phe Polymorphism rs1079109 - HSPA6 P17066 VAR_024183 p.Asp562Glu Polymorphism rs753856 - HSPA6 P17066 VAR_049605 p.Ala150Thr Polymorphism rs10919224 - HSPA6 P17066 VAR_049606 p.Asn153Ser Polymorphism rs10919225 - HSPA6 P17066 VAR_049607 p.Asp154Asn Polymorphism rs10919226 - HSPA6 P17066 VAR_049608 p.Asn170Lys Polymorphism rs41297704 - HSPA6 P17066 VAR_049609 p.Arg173Pro Polymorphism rs41297708 - HSPA6 P17066 VAR_049610 p.Pro178Ala Polymorphism rs41297710 - HSPA6 P17066 VAR_049611 p.Glu194Lys Polymorphism rs41297714 - HSPA6 P17066 VAR_049612 p.Arg260His Polymorphism rs41299256 - HSPA6 P17066 VAR_049613 p.Ser464Ile Polymorphism rs388218 - HSPA6 P17066 VAR_049614 p.Arg471His Polymorphism rs41299256 - HSPA6 P17066 VAR_049615 p.Lys528Glu Polymorphism rs570189 - HSPA6 P17066 VAR_049616 p.Met572Val Polymorphism rs452004 - HSPA6 P17066 VAR_049617 p.Arg577Gln Polymorphism rs368844 - HSPA6 P17066 VAR_049618 p.Thr626Ala Polymorphism rs41299260 - HSPA6 P17066 VAR_059360 p.Val336Phe Polymorphism rs417707 - HSPA6 P17066 VAR_059361 p.Lys528Arg Polymorphism rs570167 - HSPA6 P17066 VAR_060718 p.Pro65Thr Polymorphism - - HSPA6 P17066 VAR_060719 p.Arg95Gln Polymorphism - - HSPA6 P17066 VAR_060720 p.Ala159Val Polymorphism - - HSPA6 P17066 VAR_060721 p.Thr297Lys Polymorphism - - HSPA8 P11142 VAR_049619 p.Asp32Tyr Polymorphism rs11551602 - HSPA8 P11142 VAR_049620 p.Phe459Leu Polymorphism rs11551598 - HSPA9 P38646 VAR_046482 p.Gln74Arg Polymorphism rs17856004 - HSPA9 P38646 VAR_046483 p.His184Tyr Polymorphism - - HSPA9 P38646 VAR_049622 p.Arg127Gly Polymorphism rs35091799 - HSPA9 P38646 VAR_049623 p.Ala225Gly Polymorphism rs34558740 - HSPB1 P04792 VAR_018506 p.Arg127Trp Disease - Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634] HSPB1 P04792 VAR_018507 p.Ser135Phe Disease - Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595] HSPB1 P04792 VAR_018507 p.Ser135Phe Disease - Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634] HSPB1 P04792 VAR_018508 p.Arg136Trp Disease - Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595] HSPB1 P04792 VAR_018509 p.Thr151Ile Disease - Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634] HSPB1 P04792 VAR_018510 p.Pro182Leu Disease - Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634] HSPB2 Q16082 VAR_016316 p.Gly111Ser Polymorphism rs4252589 - HSPB3 Q12988 VAR_061271 p.Gly67Ser Polymorphism rs35258119 - HSPB3 Q12988 VAR_063773 p.Arg7Ser Disease - Distal hereditary motor neuronopathy type 2C (HMN2C) [MIM:613376] HSPB8 Q9UJY1 VAR_018504 p.Lys141Glu Disease - Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590] HSPB8 Q9UJY1 VAR_018505 p.Lys141Asn Disease - Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673] HSPB8 Q9UJY1 VAR_018505 p.Lys141Asn Disease - Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590] HSPB8 Q9UJY1 VAR_042244 p.Gly67Ser Unclassified - A glioblastoma multiforme sample HSPB8 Q9UJY1 VAR_042245 p.Arg78Met Polymorphism rs55826713 - HSPB9 Q9BQS6 VAR_022054 p.Gln2Pro Polymorphism rs1122326 - HSPBAP1 Q96EW2 VAR_031703 p.Ser64Ala Polymorphism rs16833517 - HSPD1 P10809 VAR_026748 p.Val98Ile Disease - Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280] HSPD1 P10809 VAR_054785 p.Asp29Gly Disease - Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233] HSPG2 P98160 VAR_014122 p.Cys1532Tyr Disease - Schwartz-Jampel syndrome (SJS1) [MIM:255800] HSPG2 P98160 VAR_047979 p.Asp68Glu Polymorphism rs1869780 - HSPG2 P98160 VAR_047980 p.Met638Val Polymorphism rs1874792 - HSPG2 P98160 VAR_047981 p.Asn765Ser Polymorphism rs989994 - HSPG2 P98160 VAR_047982 p.Arg1186Gln Polymorphism rs2229481 - HSPG2 P98160 VAR_047983 p.Ala1503Val Polymorphism rs897471 - HSPG2 P98160 VAR_047984 p.Arg1758Gln Polymorphism rs2229483 - HSPG2 P98160 VAR_047985 p.Arg1919Cys Polymorphism rs2229474 - HSPG2 P98160 VAR_047986 p.Val1967Ile Polymorphism rs2229475 - HSPG2 P98160 VAR_047987 p.Leu2980His Polymorphism rs2229489 - HSPG2 P98160 VAR_047988 p.Val2981Ile Polymorphism rs2229490 - HSPG2 P98160 VAR_047989 p.Ser2995Gly Polymorphism rs2229491 - HSPG2 P98160 VAR_047990 p.Ala3168Thr Polymorphism rs2228349 - HSPG2 P98160 VAR_047991 p.His3256Tyr Polymorphism rs2291827 - HSPG2 P98160 VAR_047992 p.Arg3530Trp Polymorphism rs2270699 - HSPG2 P98160 VAR_047993 p.Arg3632Gln Polymorphism rs2229493 - HSPG2 P98160 VAR_047994 p.Val3640Ile Polymorphism rs17459097 - HSPG2 P98160 VAR_047995 p.Ser4331Asn Polymorphism rs3736360 - HSPG2 P98160 VAR_057051 p.Leu303His Polymorphism rs17460381 - HSPG2 P98160 VAR_057052 p.Leu1323Val Polymorphism rs10917058 - HTATIP2 Q9BUP3 VAR_023713 p.Arg106Ser Unclassified - A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023714 p.Asp108Tyr Unclassified - A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023715 p.Ala116Thr Unclassified - A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023716 p.Gly134Val Unclassified - A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023717 p.Leu144Ile Unclassified - A hepatocellular carcinoma sample HTATIP2 Q9BUP3 VAR_023718 p.Ser197Arg Polymorphism rs3824886 - HTATSF1 O43719 VAR_027362 p.Gly478Ala Polymorphism rs2071913 - HTATSF1 O43719 VAR_052206 p.Asn526Thr Polymorphism rs12852634 - HTATSF1 O43719 VAR_052207 p.Asp678Gly Polymorphism rs17339410 - HTN3 P15516 VAR_005288 p.Arg41Gln Polymorphism rs1136511 - HTR1A P08908 VAR_003446 p.Pro16Leu Polymorphism rs1800041 - HTR1A P08908 VAR_011826 p.Gly22Ser Polymorphism rs1799920 - HTR1A P08908 VAR_011827 p.Ile28Val Polymorphism rs1799921 - HTR1A P08908 VAR_011828 p.Pro184Leu Polymorphism rs1800043 - HTR1A P08908 VAR_011829 p.Arg220Leu Polymorphism rs1800044 - HTR1A P08908 VAR_011830 p.Gly273Asp Polymorphism rs1800042 - HTR1B P28222 VAR_011715 p.Phe124Cys Polymorphism rs130060 - HTR1B P28222 VAR_011831 p.Phe219Leu Polymorphism rs130061 - HTR1B P28222 VAR_011832 p.Ile367Val Polymorphism rs130063 - HTR1B P28222 VAR_011833 p.Glu374Lys Polymorphism rs130064 - HTR1D P28221 VAR_011834 p.Ser265Leu Polymorphism rs6299 - HTR1E P28566 VAR_014165 p.Ser262Phe Polymorphism rs6303 - HTR1E P28566 VAR_022061 p.Ala208Thr Polymorphism rs3828741 - HTR2A P28223 VAR_003448 p.Thr25Asn Polymorphism rs1805055 - HTR2A P28223 VAR_003449 p.His452Tyr Polymorphism rs6314 - HTR2A P28223 VAR_013901 p.Ile197Val Polymorphism rs6304 - HTR2A P28223 VAR_013902 p.Ala447Val Polymorphism rs6308 - HTR2B P41595 VAR_055907 p.Met421Val Polymorphism rs6736017 - HTR2B P41595 VAR_064574 p.Gln45Glu Polymorphism rs78484969 - HTR2B P41595 VAR_064575 p.Phe173Leu Polymorphism rs77570025 - HTR2B P41595 VAR_064576 p.Arg388Trp Polymorphism rs77982984 - HTR2C P28335 VAR_003450 p.Cys23Ser Polymorphism rs6318 - HTR2C P28335 VAR_010166 p.Ile156Val Unclassified - - HTR2C P28335 VAR_010167 p.Asn158Ser Unclassified - - HTR2C P28335 VAR_010168 p.Ile160Val Unclassified - - HTR3A P46098 VAR_037398 p.Ala33Thr Polymorphism - - HTR3A P46098 VAR_037399 p.Ser253Asn Polymorphism rs4938063 - HTR3A P46098 VAR_037400 p.Arg344His Polymorphism rs35815285 - HTR3A P46098 VAR_037401 p.Pro391Arg Polymorphism - - HTR3A P46098 VAR_037402 p.Arg409Gln Polymorphism - - HTR3B O95264 VAR_037472 p.Tyr129Ser Polymorphism rs1176744 - HTR3B O95264 VAR_037473 p.Ile143Thr Polymorphism rs34550504 - HTR3B O95264 VAR_037474 p.Ser156Arg Polymorphism rs72466469 - HTR3B O95264 VAR_037475 p.Val183Ile Polymorphism rs17116138 - HTR3C Q8WXA8 VAR_037476 p.Asn163Lys Polymorphism rs6766410 - HTR3C Q8WXA8 VAR_037477 p.Gly405Ala Polymorphism rs6807362 - HTR3C Q8WXA8 VAR_037552 p.Val128Met Unclassified - A colorectal cancer sample HTR3D Q70Z44 VAR_037478 p.Ala171Gly Polymorphism rs6443930 - HTR3D Q70Z44 VAR_037479 p.Arg225His Polymorphism rs1000952 - HTR3D Q70Z44 VAR_037480 p.Arg435His Polymorphism rs6789754 - HTR3E A5X5Y0 VAR_037481 p.Ala71Thr Polymorphism rs7627615 - HTR3E A5X5Y0 VAR_037482 p.Ala430Thr Polymorphism rs13324468 - HTR4 Q13639 VAR_049364 p.Cys372Tyr Polymorphism rs34826744 - HTR5A P47898 VAR_035753 p.Arg262Cys Unclassified - A colorectal cancer sample HTR7 P34969 VAR_012995 p.Thr92Lys Polymorphism - - HTR7 P34969 VAR_012996 p.Pro279Leu Polymorphism - - HTR7 P34969 VAR_049365 p.Pro448Gln Polymorphism rs33954285 - HTRA1 Q92743 VAR_063148 p.Ala252Thr Disease rs113993968 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142] HTRA1 Q92743 VAR_063149 p.Val297Met Disease rs113993969 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142] HTRA2 O43464 VAR_027349 p.Ala141Ser Polymorphism - - HTRA2 O43464 VAR_027350 p.Gly399Ser Disease - Parkinson disease type 13 (PARK13) [MIM:610297] HTRA2 O43464 VAR_046134 p.Leu72Pro Polymorphism - - HTRA2 O43464 VAR_046135 p.Arg404Trp Unclassified - - HTT P42858 VAR_054017 p.Glu1382Ala Polymorphism rs3025837 - HTT P42858 VAR_060170 p.Gly893Arg Polymorphism rs363075 - HTT P42858 VAR_060171 p.Val1064Ile Polymorphism rs35892913 - HTT P42858 VAR_060172 p.Ile1091Met Polymorphism rs1143646 - HTT P42858 VAR_060173 p.Thr1173Ala Polymorphism rs3025843 - HTT P42858 VAR_060174 p.Thr1260Met Polymorphism rs34315806 - HTT P42858 VAR_060175 p.Asn1385His Polymorphism rs3025837 - HTT P42858 VAR_060176 p.Thr1720Asn Polymorphism rs363125 - HTT P42858 VAR_060177 p.Asp2113Tyr Polymorphism rs1143648 - HTT P42858 VAR_060178 p.Tyr2309His Polymorphism rs362331 - HTT P42858 VAR_060179 p.Val2786Ile Polymorphism rs362272 - HUNK P57058 VAR_040561 p.Arg157Trp Polymorphism rs35133981 - HUNK P57058 VAR_040562 p.Arg591Cys Polymorphism rs10775648 - HUNK P57058 VAR_040563 p.Glu625Lys Polymorphism rs56021554 - HUNK P57058 VAR_040564 p.Met648Thr Polymorphism rs56240027 - HUS1B Q8NHY5 VAR_025497 p.Asp268Tyr Polymorphism rs1211554 - HUS1B Q8NHY5 VAR_031206 p.His130Gln Polymorphism rs1766848 - HUS1B Q8NHY5 VAR_031207 p.Gln201Arg Polymorphism rs17136239 - HUS1 O60921 VAR_025414 p.Gln147Lys Polymorphism rs2307254 - HUS1 O60921 VAR_025415 p.Asp221Glu Polymorphism rs3176588 - HUS1 O60921 VAR_033999 p.Ser126Gly Polymorphism rs2307261 - HUWE1 Q7Z6Z7 VAR_045670 p.Arg2981His Unclassified - - HUWE1 Q7Z6Z7 VAR_045671 p.Arg4013Trp Unclassified - - HUWE1 Q7Z6Z7 VAR_045672 p.Arg4187Cys Unclassified - - HUWE1 Q7Z6Z7 VAR_061986 p.Asn483Ser Polymorphism rs41307640 - HYAL1 Q12794 VAR_023643 p.Glu268Lys Disease - Mucopolysaccharidosis type 9 (MPS9) [MIM:601492] HYAL2 Q12891 VAR_028170 p.Ser18Ala Polymorphism rs709210 - HYAL2 Q12891 VAR_061193 p.Ile418Leu Polymorphism rs35455589 - HYAL3 O43820 VAR_027263 p.His113Tyr Polymorphism rs13100173 - HYAL4 Q2M3T9 VAR_034936 p.Ala346Ser Polymorphism rs6949082 - HYDIN Q4G0P3 VAR_031837 p.Arg451Pro Polymorphism rs7200485 - HYDIN Q4G0P3 VAR_031838 p.Thr584Asn Polymorphism rs7200126 - HYDIN Q4G0P3 VAR_031839 p.Thr690Ala Polymorphism rs10744982 - HYDIN Q4G0P3 VAR_031840 p.Asn724Asp Polymorphism rs3817211 - HYDIN Q4G0P3 VAR_051036 p.Val1718Met Polymorphism rs783762 - HYDIN Q4G0P3 VAR_051037 p.Arg1892His Polymorphism rs783732 - HYDIN Q4G0P3 VAR_051038 p.Arg1952Gln Polymorphism rs17321570 - HYDIN Q4G0P3 VAR_051039 p.Val2099Met Polymorphism rs1798337 - HYDIN Q4G0P3 VAR_051040 p.Gln2276Arg Polymorphism rs1815707 - HYDIN Q4G0P3 VAR_051041 p.Glu2306Gly Polymorphism rs2502726 - HYDIN Q4G0P3 VAR_051042 p.Asn2445Ile Polymorphism rs1798532 - HYDIN Q4G0P3 VAR_051043 p.Leu2502Ser Polymorphism rs1798529 - HYDIN Q4G0P3 VAR_051044 p.Gly2558Glu Polymorphism rs8044142 - HYDIN Q4G0P3 VAR_051045 p.Lys2589Arg Polymorphism rs1774395 - HYDIN Q4G0P3 VAR_051046 p.Pro2932Leu Polymorphism rs11075812 - HYDIN Q4G0P3 VAR_051047 p.Glu2937Lys Polymorphism rs8047935 - HYDIN Q4G0P3 VAR_051048 p.Arg2939Lys Polymorphism rs7188837 - HYDIN Q4G0P3 VAR_051049 p.Glu2994Gly Polymorphism rs12102425 - HYDIN Q4G0P3 VAR_051050 p.Thr3116Arg Polymorphism rs1774423 - HYDIN Q4G0P3 VAR_051051 p.Tyr3269Asp Polymorphism rs7197263 - HYDIN Q4G0P3 VAR_051052 p.Arg3811His Polymorphism rs13338821 - HYDIN Q4G0P3 VAR_051053 p.Val3899Met Polymorphism rs1626593 - HYDIN Q4G0P3 VAR_051054 p.Ala4026Thr Polymorphism rs11075798 - HYDIN Q4G0P3 VAR_051055 p.Lys4088Arg Polymorphism rs1774416 - HYDIN Q4G0P3 VAR_051056 p.His4270Tyr Polymorphism rs1891343 - HYDIN Q4G0P3 VAR_051057 p.Gly4520Ser Polymorphism rs2292127 - HYDIN Q4G0P3 VAR_051058 p.Asn4606Lys Polymorphism rs783898 - HYDIN Q4G0P3 VAR_059667 p.Ile1077Val Polymorphism rs6416709 - HYDIN Q4G0P3 VAR_059668 p.Val1228Leu Polymorphism rs1774513 - HYDIN Q4G0P3 VAR_059669 p.Ile1534Val Polymorphism rs1774303 - HYDIN Q4G0P3 VAR_059670 p.Arg2087Cys Polymorphism rs1774541 - HYDIN Q4G0P3 VAR_059671 p.Gln2242Arg Polymorphism rs2258307 - HYDIN Q4G0P3 VAR_059672 p.Arg2298Gly Polymorphism rs1774360 - HYDIN Q4G0P3 VAR_059673 p.Lys2530Glu Polymorphism rs1798528 - HYDIN Q4G0P3 VAR_059674 p.Asp2570Asn Polymorphism rs8044001 - HYDIN Q4G0P3 VAR_059675 p.Ile2694Ser Polymorphism rs1774449 - HYDIN Q4G0P3 VAR_059676 p.Ala3291Pro Polymorphism rs1798440 - HYDIN Q4G0P3 VAR_059677 p.Leu3316Pro Polymorphism rs1774331 - HYDIN Q4G0P3 VAR_059678 p.Ala3739Thr Polymorphism rs1774504 - HYDIN Q4G0P3 VAR_059679 p.Val3742Ile Polymorphism rs1798413 - HYDIN Q4G0P3 VAR_059680 p.Val3840Leu Polymorphism rs1798325 - HYDIN Q4G0P3 VAR_059681 p.Met3869Arg Polymorphism rs7192347 - HYDIN Q4G0P3 VAR_059682 p.Thr4005Ala Polymorphism rs1539302 - HYDIN Q4G0P3 VAR_059683 p.Glu4160Gln Polymorphism rs1798314 - HYDIN Q4G0P3 VAR_059684 p.Ser4363Cys Polymorphism rs1770434 - HYDIN Q4G0P3 VAR_059685 p.Lys4412Glu Polymorphism rs1774480 - HYDIN Q4G0P3 VAR_059686 p.Met4552Leu Polymorphism rs1770442 - HYDIN Q4G0P3 VAR_059687 p.Arg4869Gln Polymorphism rs2795652 - HYDIN Q4G0P3 VAR_061666 p.Pro2455Gln Polymorphism rs1798531 - HYI Q5T013 VAR_032611 p.Asp239Asn Polymorphism rs17850049 - HYLS1 Q96M11 VAR_031866 p.Cys31Arg Polymorphism rs667782 - HYLS1 Q96M11 VAR_031867 p.Asp211Gly Disease - Hydrolethalus syndrome type 1 (HLS1) [MIM:236680] HYPK Q9NX55 VAR_030335 p.Ser105Pro Polymorphism rs12702 - IAPP P10997 VAR_012080 p.Ser53Gly Polymorphism rs1800203 - IARS2 Q9NSE4 VAR_034526 p.Ile522Val Polymorphism rs11800305 - IARS2 Q9NSE4 VAR_059862 p.Ala14Val Polymorphism rs2577154 - IARS P41252 VAR_057951 p.Met769Ile Polymorphism rs1136054 - IARS P41252 VAR_057952 p.Lys1182Glu Polymorphism rs556155 - IARS P41252 VAR_058300 p.Thr684Met Polymorphism rs2070053 - IBA57 Q5T440 VAR_030794 p.Gly211Ser Polymorphism rs2298014 - IBSP P21815 VAR_056579 p.Thr256Ala Polymorphism rs17013182 - IBSP P21815 VAR_056580 p.Ala268Val Polymorphism rs1054628 - IBSP P21815 VAR_058014 p.Gly195Glu Polymorphism rs1054627 - IBSP P21815 VAR_058015 p.Asp213Gly Polymorphism rs13144371 - IBSP P21815 VAR_058016 p.Arg219Gly Polymorphism rs17013181 - IBSP P21815 VAR_058017 p.Glu270Asp Polymorphism rs1054629 - IBTK Q9P2D0 VAR_031106 p.Val1065Ile Polymorphism rs12662902 - IBTK Q9P2D0 VAR_031107 p.Ala1185Val Polymorphism rs9449444 - ICAM1 P05362 VAR_010204 p.Lys56Met Polymorphism rs5491 - ICAM1 P05362 VAR_014186 p.Gly241Arg Polymorphism rs1799969 - ICAM1 P05362 VAR_014187 p.Lys469Glu Polymorphism rs5498 - ICAM1 P05362 VAR_014651 p.Lys155Asn Polymorphism rs5492 - ICAM1 P05362 VAR_014652 p.Val315Met Polymorphism rs5495 - ICAM1 P05362 VAR_014653 p.Pro352Leu Polymorphism rs1801714 - ICAM1 P05362 VAR_014654 p.Arg397Gln Polymorphism rs5497 - ICAM1 P05362 VAR_016267 p.Arg478Trp Polymorphism rs5030400 - ICAM1 P05362 VAR_049879 p.Ser34Cys Polymorphism rs5491 - ICAM2 P13598 VAR_014655 p.Ala37Thr Polymorphism rs5503 - ICAM2 P13598 VAR_014656 p.Arg199His Polymorphism rs5504 - ICAM2 P13598 VAR_021920 p.Arg256Gln Polymorphism rs3764867 - ICAM3 P32942 VAR_024498 p.Ser525Thr Polymorphism rs2230399 - ICAM3 P32942 VAR_046547 p.Ile63Val Polymorphism rs17697947 - ICAM3 P32942 VAR_046548 p.Asp143Gly Polymorphism rs2304237 - ICAM3 P32942 VAR_059394 p.Arg115Gly Polymorphism rs7258015 - ICAM4 Q14773 VAR_003912 p.Gln100Arg Unclassified - - ICAM4 Q14773 VAR_038721 p.Val208Leu Polymorphism - - ICAM5 Q9UMF0 VAR_035515 p.Leu140Val Unclassified - A breast cancer sample ICAM5 Q9UMF0 VAR_035516 p.Arg188Trp Unclassified - A breast cancer sample ICAM5 Q9UMF0 VAR_035517 p.Glu488Gln Unclassified - A breast cancer sample ICAM5 Q9UMF0 VAR_056046 p.Val301Ile Polymorphism rs1056538 - ICAM5 Q9UMF0 VAR_056047 p.Ala348Thr Polymorphism rs2228615 - ICK Q9UPZ9 VAR_042001 p.Phe115Tyr Unclassified - A renal clear cell carcinoma sample ICK Q9UPZ9 VAR_042002 p.Val320Ile Polymorphism rs33936662 - ICK Q9UPZ9 VAR_042003 p.Thr471Lys Polymorphism rs56164633 - ICK Q9UPZ9 VAR_042004 p.Arg476Gln Polymorphism rs55895113 - ICK Q9UPZ9 VAR_042005 p.Ala615Thr Polymorphism rs55932059 - ICK Q9UPZ9 VAR_053931 p.Pro98Leu Polymorphism rs1493105 - ICK Q9UPZ9 VAR_057994 p.Arg272Gln Disease - Endocrine-cerebroosteodysplasia (ECO) [MIM:612651] ICOSLG O75144 VAR_049880 p.Val128Ile Polymorphism rs11558819 - ICT1 Q14197 VAR_020045 p.Arg8Pro Polymorphism rs3744206 - ICT1 Q14197 VAR_024604 p.Leu77Phe Polymorphism rs10512599 - ICT1 Q14197 VAR_061767 p.Thr122Met Polymorphism rs34496172 - ID1 P41134 VAR_049544 p.Asn63Asp Polymorphism rs1802548 - ID3 Q02535 VAR_016122 p.Thr105Ala Polymorphism rs11574 - ID3 Q02535 VAR_030739 p.Ser111Ala Polymorphism rs11542317 - IDE P14735 VAR_051571 p.Glu612Lys Polymorphism rs2229708 - IDH1 O75874 VAR_036013 p.Arg132Cys Unclassified - Colorectal cancer IDH1 O75874 VAR_049780 p.Val178Ile Polymorphism rs34218846 - IDH1 O75874 VAR_055454 p.Arg132Gly Unclassified - A glioma sample IDH1 O75874 VAR_055455 p.Arg132His Unclassified - A glioma sample IDH1 O75874 VAR_055456 p.Arg132Leu Unclassified - A glioma sample IDH1 O75874 VAR_055457 p.Arg132Ser Unclassified - A glioma sample IDH2 P48735 VAR_065174 p.Arg140Gly Disease - D-2-hydroxyglutaric aciduria type 2 (D2HGA2) [MIM:613657] IDH2 P48735 VAR_065175 p.Arg140Gln Disease - D-2-hydroxyglutaric aciduria type 2 (D2HGA2) [MIM:613657] IDH3B O43837 VAR_022660 p.Ala3Val Polymorphism rs3178817 - IDH3B O43837 VAR_049781 p.Gln166His Polymorphism rs11542741 - IDH3B O43837 VAR_054851 p.Leu132Pro Disease - Retinitis pigmentosa type 46 (RP46) [MIM:612572] IDH3B O43837 VAR_056005 p.Thr360Ala Polymorphism rs8296 - IDNK Q5T6J7 VAR_042433 p.Lys185Thr Polymorphism rs1052690 - IDO1 P14902 VAR_053368 p.Ala4Thr Polymorphism rs35059413 - IDO2 Q6ZQW0 VAR_032007 p.Arg235Trp Polymorphism rs10109853 - IDS P22304 VAR_007313 p.Asp45Asn Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007314 p.Arg48Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007315 p.Tyr54Asp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007316 p.Asn63Asp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007317 p.Ala68Glu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007318 p.Ala79Glu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007319 p.Ala85Thr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007320 p.Pro86Leu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007321 p.Pro86Gln Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007322 p.Pro86Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007323 p.Ser87Asn Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007324 p.Arg88Cys Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007325 p.Arg88His Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007326 p.Arg88Leu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007327 p.Arg88Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007328 p.Leu92Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007329 p.Gly94Asp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007330 p.Leu102Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007331 p.Tyr108Cys Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007332 p.Asn115Tyr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007333 p.Thr118Ile Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007334 p.Pro120His Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007335 p.Pro120Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007336 p.Glu125Val Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007337 p.Ser132Trp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007338 p.Gly134Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007339 p.Lys135Asn Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007340 p.Lys135Arg Disease rs28937311 Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007341 p.Ser143Phe Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007342 p.His159Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007344 p.Pro160Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007345 p.Cys184Phe Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007346 p.Cys184Trp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007347 p.Leu196Ser Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007348 p.Asp198Gly Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007349 p.Leu221Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007350 p.Gly224Glu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007351 p.Tyr225Asp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007352 p.Lys227Gln Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007353 p.Pro228Leu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007354 p.His229Tyr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007355 p.Asp252Asn Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007356 p.Pro266His Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007357 p.Pro266Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007358 p.Asp269Val Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007359 p.Gln293His Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007360 p.Ser333Leu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007361 p.Trp337Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007362 p.Gly340Asp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007363 p.Trp345Cys Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007364 p.Ala346Asp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007365 p.Ala346Val Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007366 p.Lys347Ile Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007367 p.Lys347Thr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007368 p.Tyr348His Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007369 p.Ser349Ile Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007370 p.Pro358Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007371 p.Leu403Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007372 p.Cys422Gly Disease rs28937310 Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007373 p.Cys432Tyr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007374 p.Glu434Lys Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007375 p.Arg468Gly Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007376 p.Arg468Leu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007377 p.Arg468Gln Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007378 p.Arg468Trp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007379 p.Pro469His Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007380 p.Asp478Gly Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007381 p.Asp478Tyr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007382 p.Ile485Lys Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007383 p.Ile485Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007384 p.Trp502Cys Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007385 p.Trp502Ser Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007386 p.Glu521Val Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_007387 p.Tyr523Cys Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_008134 p.Glu341Lys Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_008135 p.His342Tyr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_008136 p.Ser491Phe Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_008998 p.Ser71Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_008999 p.Ala82Glu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_009001 p.Tyr264Asn Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_009002 p.Asp334Gly Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_009003 p.Gln465Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026915 p.Leu41Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026916 p.Ser71Asn Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026917 p.Leu73Phe Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026918 p.Ala82Val Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026919 p.Ala85Ser Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026920 p.Arg88Gly Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026921 p.Val89Phe Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026922 p.Arg95Gly Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026923 p.Arg95Thr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026924 p.Tyr108Ser Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026926 p.Ser117Tyr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026928 p.Gln121His Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026929 p.Gln121Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026930 p.His138Asp Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026931 p.Gly140Val Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026932 p.Asp148His Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026933 p.Asn181Ile Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026934 p.Leu182Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026935 p.Ala205Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026936 p.Lys227Met Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026937 p.Pro228Thr Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026938 p.His229Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026939 p.Pro231Leu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026940 p.Leu259Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026941 p.Asn265Ile Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026942 p.Ser299Ile Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026943 p.Asp308Glu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026944 p.Asp308Asn Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026945 p.Thr309Ala Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026946 p.Arg313Cys Unclassified - - IDS P22304 VAR_026947 p.Leu314Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026948 p.Asp334Asn Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026949 p.His335Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026950 p.Gly336Glu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026951 p.Gly336Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026952 p.Leu339Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026953 p.Lys347Gln Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026954 p.Leu410Pro Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026955 p.Cys422Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026956 p.Pro467Leu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026957 p.Pro480Leu Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026958 p.Pro480Gln Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026959 p.Pro480Arg Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026961 p.Tyr490Ser Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDS P22304 VAR_026962 p.Glu521Lys Disease - Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] IDUA P35475 VAR_003350 p.His33Gln Polymorphism rs10794537 - IDUA P35475 VAR_003351 p.Gly51Asp Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003352 p.Ala75Thr Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003353 p.His82Pro Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003354 p.Arg89Gln Disease - Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003355 p.Arg89Trp Disease - Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003356 p.Arg105Gln Polymorphism rs3755955 - IDUA P35475 VAR_003357 p.Gly116Arg Polymorphism - - IDUA P35475 VAR_003358 p.Leu218Pro Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003359 p.Val279Ala Polymorphism - - IDUA P35475 VAR_003360 p.Asp315Tyr Unclassified - - IDUA P35475 VAR_003361 p.Ala327Pro Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003361 p.Ala327Pro Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003362 p.Asp349Asn Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003364 p.Ala361Thr Polymorphism rs6831280 - IDUA P35475 VAR_003365 p.Thr366Pro Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003366 p.Gln380Arg Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003367 p.Arg383His Disease - Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003368 p.Thr388Arg Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003370 p.Gly409Arg Disease rs11934801 Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003372 p.Val454Ile Polymorphism rs73066479 - IDUA P35475 VAR_003373 p.Arg489Pro Disease rs4690226 Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003374 p.Leu490Pro Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003374 p.Leu490Pro Disease - Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003375 p.Arg492Pro Disease - Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_003376 p.Pro496Leu Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003377 p.Met504Thr Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003378 p.Pro533Arg Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_003378 p.Pro533Arg Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_003379 p.Trp626Arg Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_017435 p.Ala300Thr Unclassified - - IDUA P35475 VAR_017436 p.Leu346Arg Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_017437 p.Arg619Gly Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020975 p.Ala79Val Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020976 p.His82Gln Unclassified - - IDUA P35475 VAR_020977 p.Met133Ile Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_020978 p.Glu182Lys Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_020979 p.Gly208Asp Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_020980 p.Leu238Gln Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020981 p.Ser260Phe Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020982 p.Asp349Tyr Disease - Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] IDUA P35475 VAR_020983 p.Asn350Ile Disease - Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_020984 p.Arg363Cys Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020985 p.Ser423Arg Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020985 p.Ser423Arg Disease - Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] IDUA P35475 VAR_020986 p.Phe602Ile Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IDUA P35475 VAR_020987 p.Arg628Pro Disease - Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] IER2 Q9BTL4 VAR_057581 p.Ala133Val Polymorphism rs1042164 - IER3 P46695 VAR_058496 p.Ala127Pro Polymorphism rs3094124 - IER5L Q5T953 VAR_043450 p.Pro105Ser Polymorphism rs184457 - IER5 Q5VY09 VAR_028404 p.Arg92His Polymorphism rs3747955 - IER5 Q5VY09 VAR_028405 p.Val168Ile Polymorphism rs3747954 - IER5 Q5VY09 VAR_028406 p.Arg194Gly Polymorphism rs1416829 - IER5 Q5VY09 VAR_028407 p.Gln202Arg Polymorphism rs1361365 - IER5 Q5VY09 VAR_028408 p.Pro285Ser Polymorphism rs3747951 - IFI16 Q16666 VAR_029486 p.Asp103His Polymorphism rs1057018 - IFI16 Q16666 VAR_029487 p.Ser179Thr Polymorphism rs866484 - IFI16 Q16666 VAR_029488 p.Lys202Glu Polymorphism rs11585341 - IFI16 Q16666 VAR_029489 p.Arg409Ser Polymorphism rs1057027 - IFI16 Q16666 VAR_029490 p.Tyr413Asn Polymorphism rs1057028 - IFI16 Q16666 VAR_029491 p.Thr723Ser Polymorphism rs6940 - IFI16 Q16666 VAR_057582 p.Thr779Ser Polymorphism rs6940 - IFI27L1 Q96BM0 VAR_062245 p.Gly35Ser Polymorphism rs57677258 - IFI27 P40305 VAR_028066 p.Ser106Phe Polymorphism rs2227974 - IFI35 P80217 VAR_063758 p.Met126Val Polymorphism rs588703 - IFI44L Q53G44 VAR_043726 p.Met390Ile Polymorphism rs35466823 - IFI44L Q53G44 VAR_054648 p.His73Arg Polymorphism rs273259 - IFI44L Q53G44 VAR_054649 p.Ala104Thr Polymorphism rs34932081 - IFI44L Q53G44 VAR_054650 p.Arg148Cys Polymorphism rs273258 - IFI44L Q53G44 VAR_054651 p.Val217Ile Polymorphism rs3820093 - IFI44L Q53G44 VAR_054652 p.Ile235Thr Polymorphism rs987495 - IFI44L Q53G44 VAR_054653 p.Arg296Cys Polymorphism rs1981071 - IFI44 Q8TCB0 VAR_054647 p.Trp9Arg Polymorphism rs2070123 - IFIH1 Q9BYX4 VAR_021594 p.His843Arg Polymorphism rs3747517 - IFIH1 Q9BYX4 VAR_021595 p.Ala946Thr Polymorphism rs1990760 - IFIH1 Q9BYX4 VAR_031226 p.His460Arg Polymorphism rs10930046 - IFIT1B Q5T764 VAR_052617 p.Leu188Pro Polymorphism rs7072728 - IFIT1 P09914 VAR_052614 p.Pro131His Polymorphism rs11553019 - IFIT2 P09913 VAR_014490 p.Asp352Glu Polymorphism rs1727 - IFIT2 P09913 VAR_052615 p.Glu79Ala Polymorphism rs17468739 - IFIT2 P09913 VAR_052616 p.Lys121Arg Polymorphism rs2070845 - IFITM1 P13164 VAR_047422 p.Pro13Ala Polymorphism rs9667990 - IFITM2 Q01629 VAR_014848 p.Met41Thr Polymorphism rs14408 - IFITM2 Q01629 VAR_060470 p.Ile121Val Polymorphism rs1059091 - IFITM2 Q01629 VAR_062677 p.Val33Ala Polymorphism rs1058900 - IFITM3 Q01628 VAR_053810 p.His3Gln Polymorphism rs1136853 - IFITM5 A6NNB3 VAR_062170 p.Gly27Ala Polymorphism rs57285449 - IFLTD1 Q8N9Z9 VAR_049809 p.Ala264Thr Polymorphism rs35450203 - IFLTD1 Q8N9Z9 VAR_049810 p.Glu267Gly Polymorphism rs34326830 - IFLTD1 Q8N9Z9 VAR_049811 p.Thr289Ala Polymorphism rs34732786 - IFLTD1 Q8N9Z9 VAR_049812 p.Ala290Thr Polymorphism rs34074522 - IFLTD1 Q8N9Z9 VAR_049813 p.Thr366Ser Polymorphism rs1479500 - IFNA10 P01566 VAR_029227 p.Gly42Ala Polymorphism rs2230853 - IFNA17 P01571 VAR_013020 p.Ile184Arg Polymorphism rs9298814 - IFNA1 P01562 VAR_013000 p.Ala137Val Polymorphism rs2230050 - IFNA1 P01562 VAR_024508 p.Val10Ala Polymorphism rs1758567 - IFNA1 P01562 VAR_025173 p.Ala163Gly Polymorphism rs33965070 - IFNA21 P01568 VAR_049638 p.Lys179Glu Polymorphism rs3750478 - IFNA21 P01568 VAR_055325 p.Leu119Met Polymorphism rs1053885 - IFNA2 P01563 VAR_004012 p.Lys46Arg Polymorphism rs1061959 - IFNA2 P01563 VAR_013001 p.His57Arg Unclassified - - IFNA2 P01563 VAR_036329 p.Ser177Leu Unclassified - A breast cancer sample IFNA2 P01563 VAR_055972 p.Ala6Asp Polymorphism rs35971916 - IFNA4 P05014 VAR_013002 p.Ala74Thr Polymorphism rs1062571 - IFNA4 P05014 VAR_013003 p.Glu137Val Polymorphism rs3750480 - IFNA4 P05014 VAR_034010 p.His49Pro Polymorphism rs3203573 - IFNA8 P32881 VAR_021975 p.Glu137Lys Polymorphism rs3739630 - IFNAR1 P17181 VAR_002717 p.Val168Leu Polymorphism rs2257167 - IFNAR1 P17181 VAR_020502 p.Val307Ile Polymorphism rs17875833 - IFNAR1 P17181 VAR_020503 p.Thr359Met Polymorphism rs17875834 - IFNAR2 P48551 VAR_020521 p.Phe8Ser Polymorphism rs2229207 - IFNAR2 P48551 VAR_020522 p.Phe10Val Polymorphism rs1051393 - IFNAR2 P48551 VAR_020523 p.Ile196Val Polymorphism rs17860223 - IFNB1 P01574 VAR_004016 p.Cys162Tyr Unclassified - - IFNB1 P01574 VAR_036330 p.Trp164Cys Unclassified - A breast cancer sample IFNE Q86WN2 VAR_049639 p.Gln46His Polymorphism rs1125488 - IFNG P01579 VAR_004017 p.Lys29Gln Polymorphism - - IFNG P01579 VAR_004018 p.Arg160Gln Polymorphism - - IFNGR1 P15260 VAR_017577 p.Cys77Tyr Disease - Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] IFNGR1 P15260 VAR_017578 p.Ile87Thr Disease - Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] IFNGR1 P15260 VAR_019281 p.Val61Ile Polymorphism rs17175322 - IFNGR1 P15260 VAR_019282 p.His335Pro Polymorphism rs17175350 - IFNGR1 P15260 VAR_019283 p.Leu467Pro Polymorphism rs1887415 - IFNGR2 P38484 VAR_002718 p.Gln64Arg Polymorphism rs9808753 - IFNGR2 P38484 VAR_020003 p.Thr58Arg Polymorphism rs4986958 - IFNGR2 P38484 VAR_021383 p.Glu147Lys Polymorphism rs17878639 - IFNGR2 P38484 VAR_021384 p.Lys182Glu Polymorphism rs17878711 - IFNGR2 P38484 VAR_023281 p.Thr168Asn Disease - Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] IFNK Q9P0W0 VAR_021303 p.Lys133Glu Polymorphism rs700785 - IFNK Q9P0W0 VAR_032710 p.Ile97Asn Polymorphism rs34933275 - IFNL1 Q8IU54 VAR_024506 p.Asn188Asp Polymorphism rs30461 - IFNL2 Q8IZJ0 VAR_053384 p.Thr10Met Polymorphism rs554971 - IFNL2 Q8IZJ0 VAR_053385 p.Thr112Ala Polymorphism rs8103362 - IFNL3 Q8IZI9 VAR_063419 p.Arg28His Polymorphism rs629976 - IFNL3 Q8IZI9 VAR_063420 p.Lys70Arg Polymorphism rs8103142 - IFNW1 P05000 VAR_020028 p.Arg95Ser Polymorphism rs2230055 - IFRD1 O00458 VAR_064723 p.Gln39Lys Unclassified - - IFRD2 Q12894 VAR_029302 p.Arg502Gln Polymorphism rs2229648 - IFT122 Q9HBG6 VAR_063584 p.Trp7Cys Disease - Cranioectodermal dysplasia type 1 (CED1) [MIM:218330] IFT122 Q9HBG6 VAR_063585 p.Ser322Phe Disease - Cranioectodermal dysplasia type 1 (CED1) [MIM:218330] IFT122 Q9HBG6 VAR_063586 p.Val502Gly Disease - Cranioectodermal dysplasia type 1 (CED1) [MIM:218330] IFT140 Q96RY7 VAR_053396 p.Asp165Ala Polymorphism rs35588860 - IFT140 Q96RY7 VAR_053397 p.Arg279Pro Polymorphism rs4786350 - IFT140 Q96RY7 VAR_053398 p.Arg280Gln Polymorphism rs35404373 - IFT140 Q96RY7 VAR_053399 p.Val398Ile Polymorphism rs34762152 - IFT140 Q96RY7 VAR_053400 p.Ala451Val Polymorphism rs8060532 - IFT140 Q96RY7 VAR_053401 p.Arg621Gln Polymorphism rs11648609 - IFT140 Q96RY7 VAR_053402 p.Pro670Ser Polymorphism rs34900355 - IFT140 Q96RY7 VAR_053403 p.Ala1070Val Polymorphism rs2235638 - IFT140 Q96RY7 VAR_062098 p.Ser561Asn Polymorphism rs8050974 - IFT172 Q9UG01 VAR_042581 p.Arg953His Polymorphism rs704793 - IFT43 Q96FT9 VAR_056839 p.Arg85His Polymorphism rs2302858 - IFT46 Q9NQC8 VAR_057533 p.Cys9Tyr Polymorphism rs11552421 - IFT74 Q96LB3 VAR_051062 p.Ile55Met Polymorphism rs10812505 - IFT74 Q96LB3 VAR_051063 p.Thr110Ala Polymorphism rs12004404 - IFT74 Q96LB3 VAR_051064 p.Phe224Leu Polymorphism rs17694549 - IFT74 Q96LB3 VAR_051065 p.Asn355Thr Polymorphism rs34628525 - IFT74 Q96LB3 VAR_051066 p.Thr597Ile Polymorphism rs3429 - IFT74 Q96LB3 VAR_061667 p.Lys85Arg Polymorphism rs11555693 - IFT80 Q9P2H3 VAR_035006 p.His105Gln Disease - Asphyxiating thoracic dystrophy type 2 (ATD2) [MIM:611263] IFT80 Q9P2H3 VAR_035008 p.Thr586Ser Polymorphism rs6778728 - IFT80 Q9P2H3 VAR_035009 p.Ala701Pro Disease - Asphyxiating thoracic dystrophy type 2 (ATD2) [MIM:611263] IFT88 Q13099 VAR_046464 p.Met383Ile Polymorphism rs2442455 - IFT88 Q13099 VAR_046465 p.Ser455Asn Polymorphism rs9509307 - IFT88 Q13099 VAR_046466 p.Ser671Gly Polymorphism rs9552254 - IGBP1 P78318 VAR_049570 p.Arg20Lys Polymorphism rs6625580 - IGDCC3 Q8IVU1 VAR_060356 p.Val751Leu Polymorphism rs12907128 - IGDCC4 Q8TDY8 VAR_049966 p.Ala52Pro Polymorphism rs34355056 - IGDCC4 Q8TDY8 VAR_049967 p.Asn301Ser Polymorphism rs12442757 - IGDCC4 Q8TDY8 VAR_049968 p.Thr1102Ala Polymorphism rs33918653 - IGDCC4 Q8TDY8 VAR_049969 p.Cys1125Tyr Polymorphism rs33918653 - IGDCC4 Q8TDY8 VAR_059391 p.Ser803Cys Polymorphism rs1469778 - IGF1 P05019 VAR_013945 p.Ala187Asp Polymorphism rs6213 - IGF1 P05019 VAR_056113 p.Ala115Thr Polymorphism rs17884626 - IGF1R P08069 VAR_018855 p.Val388Met Polymorphism rs45445894 - IGF1R P08069 VAR_018856 p.Arg605His Polymorphism rs45553041 - IGF1R P08069 VAR_034891 p.Arg138Gln Disease - Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R P08069 VAR_034892 p.Lys145Asn Disease - Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R P08069 VAR_034893 p.Arg437His Polymorphism rs34516635 - IGF1R P08069 VAR_034894 p.Arg511Gln Polymorphism rs33958176 - IGF1R P08069 VAR_034895 p.Arg739Gln Disease - Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R P08069 VAR_034896 p.His808Arg Polymorphism rs34061581 - IGF1R P08069 VAR_034897 p.Ala828Thr Polymorphism rs35224135 - IGF1R P08069 VAR_041424 p.Val105Leu Unclassified - - IGF1R P08069 VAR_041425 p.Arg595His Polymorphism rs56248469 - IGF1R P08069 VAR_041426 p.Asn857Ser Polymorphism rs45611935 - IGF1R P08069 VAR_041427 p.Ala1338Thr Polymorphism rs34102392 - IGF1R P08069 VAR_041428 p.Ala1347Val Unclassified - A lung squamous cell carcinoma sample IGF2-AS Q6U949 VAR_024844 p.Ser106Ile Polymorphism rs17883406 - IGF2-AS Q6U949 VAR_024845 p.Pro112Thr Polymorphism rs17883142 - IGF2-AS Q6U949 VAR_024846 p.Phe125Val Polymorphism rs1003483 - IGF2-AS Q6U949 VAR_024847 p.Thr150Ala Polymorphism rs1003484 - IGF2 P01344 VAR_011959 p.Lys120Asn Polymorphism rs14367 - IGF2 P01344 VAR_011960 p.Pro173Gln Polymorphism rs1050342 - IGF2 P01344 VAR_011961 p.Lys180Asn Polymorphism rs12993 - IGF2R P11717 VAR_014722 p.Asn2020Ser Polymorphism rs1805075 - IGF2R P11717 VAR_020470 p.Pro203Leu Polymorphism rs8191746 - IGF2R P11717 VAR_020471 p.Leu252Val Polymorphism rs8191754 - IGF2R P11717 VAR_020472 p.Arg529Gln Polymorphism rs6413489 - IGF2R P11717 VAR_020473 p.Gly604Ser Polymorphism rs8191797 - IGF2R P11717 VAR_020474 p.Ala724Thr Polymorphism rs6413491 - IGF2R P11717 VAR_020475 p.Gly856Ser Polymorphism rs8191819 - IGF2R P11717 VAR_020476 p.Thr1107Met Polymorphism rs8191842 - IGF2R P11717 VAR_020477 p.Thr1184Ser Polymorphism rs8191844 - IGF2R P11717 VAR_021304 p.Arg91His Polymorphism rs8191704 - IGF2R P11717 VAR_021305 p.Gly231Asp Polymorphism rs8191753 - IGF2R P11717 VAR_021306 p.Asp273Gly Polymorphism rs8191758 - IGF2R P11717 VAR_021307 p.Lys512Gln Polymorphism rs8191776 - IGF2R P11717 VAR_021308 p.Leu817Val Polymorphism rs8191808 - IGF2R P11717 VAR_021309 p.Val1124Ile Polymorphism rs8191843 - IGF2R P11717 VAR_021310 p.Gly1315Glu Polymorphism rs8191859 - IGF2R P11717 VAR_021311 p.Arg1335His Polymorphism rs8191860 - IGF2R P11717 VAR_021312 p.Arg1619Gly Polymorphism rs629849 - IGF2R P11717 VAR_021313 p.Arg1832His Polymorphism rs8191904 - IGF2R P11717 VAR_021314 p.Gly1860Asp Polymorphism rs8191905 - IGF2R P11717 VAR_021315 p.Ile1908Met Polymorphism rs8191908 - IGF2R P11717 VAR_021316 p.Ala2459Val Polymorphism rs8191955 - IGF2R P11717 VAR_050428 p.Glu1254Ala Polymorphism rs2230043 - IGF2R P11717 VAR_050429 p.Thr1395Ser Polymorphism rs2230048 - IGF2R P11717 VAR_050430 p.Gln1696Arg Polymorphism rs11552587 - IGFALS P35858 VAR_022034 p.Pro498Ser Polymorphism rs9282730 - IGFALS P35858 VAR_022035 p.Arg548Trp Polymorphism rs9282731 - IGFALS P35858 VAR_050658 p.Leu97Phe Polymorphism rs35947557 - IGFALS P35858 VAR_050659 p.Pro307Leu Polymorphism rs34297640 - IGFBP1 P08833 VAR_003821 p.Ile253Met Polymorphism rs4619 - IGFBP1 P08833 VAR_011905 p.Val183Ile Polymorphism rs1065782 - IGFBP1 P08833 VAR_049564 p.His114Asp Polymorphism rs41258845 - IGFBP2 P18065 VAR_018871 p.Ala137Asp Polymorphism rs9341096 - IGFBP3 P17936 VAR_021974 p.His158Pro Polymorphism rs9282734 - IGFBP3 P17936 VAR_025262 p.Ala32Gly Polymorphism rs2854746 - IGFBP3 P17936 VAR_025263 p.Ala56Thr Polymorphism rs34257987 - IGFBP3 P17936 VAR_025264 p.Gly234Ser Polymorphism rs35712717 - IGFBP3 P17936 VAR_036279 p.Thr7Met Unclassified - A colorectal cancer sample IGFBP3 P17936 VAR_036280 p.Arg252Cys Unclassified - A colorectal cancer sample IGFBP4 P22692 VAR_011906 p.Val42Gly Polymorphism rs599199 - IGFBP5 P24593 VAR_019284 p.Arg138Trp Polymorphism rs11575194 - IGFBP6 P24592 VAR_011907 p.Thr236Pro Polymorphism rs1053134 - IGFBP6 P24592 VAR_018932 p.Arg128Gly Polymorphism rs9658616 - IGFBP6 P24592 VAR_018933 p.Arg217Gln Polymorphism rs6413498 - IGFBP6 P24592 VAR_049565 p.Arg134Leu Polymorphism rs34995393 - IGFBP7 Q16270 VAR_018959 p.Leu11Phe Polymorphism rs11573021 - IGFBP7 Q16270 VAR_063638 p.Arg78Gly Unclassified - - IGFBP7 Q16270 VAR_063639 p.Lys95Arg Unclassified - - IGFL3 Q6UXB1 VAR_034012 p.Thr66Ser Polymorphism rs10406448 - IGFL4 Q6B9Z1 VAR_049571 p.Leu25Pro Polymorphism rs10412490 - IGFL4 Q6B9Z1 VAR_049572 p.Arg60Gln Polymorphism rs17271272 - IGFLR1 Q9H665 VAR_032775 p.Trp189Arg Polymorphism rs34562867 - IGFN1 Q86VF2 VAR_046035 p.Thr1056Met Polymorphism rs6690992 - IGFN1 Q86VF2 VAR_046036 p.His1095Tyr Polymorphism rs3738270 - IGHA1 P01876 VAR_014602 p.Glu176Asp Polymorphism rs1407 - IGHA2 P01877 VAR_003879 p.Pro93Ser Polymorphism - - IGHA2 P01877 VAR_003880 p.Pro102Arg Polymorphism - - IGHA2 P01877 VAR_003881 p.Phe279Tyr Polymorphism - - IGHA2 P01877 VAR_003882 p.Asp296Glu Polymorphism - - IGHA2 P01877 VAR_003883 p.Val326Ile Polymorphism - - IGHA2 P01877 VAR_003884 p.Val335Ala Polymorphism - - IGHE P01854 VAR_003885 p.Trp359Leu Polymorphism - - IGHE P01854 VAR_044229 p.Trp43Cys Polymorphism - - IGHG1 P01857 VAR_003886 p.Lys97Arg Unclassified - - IGHG1 P01857 VAR_003887 p.Asp239Glu Unclassified - - IGHG1 P01857 VAR_003888 p.Leu241Met Unclassified - - IGHG2 P01859 VAR_003889 p.Ser60Ala Unclassified - - IGHG3 P01860 VAR_003890 p.Val214Asx Unclassified - - IGHG3 P01860 VAR_003891 p.Pro221Leu Unclassified - - IGHG3 P01860 VAR_003892 p.Tyr226Phe Unclassified - - IGHG3 P01860 VAR_003893 p.Thr269Ala Unclassified - - IGHG3 P01860 VAR_003894 p.Ser314Asn Unclassified - - IGHG3 P01860 VAR_003896 p.Phe366Tyr Unclassified - - IGHMBP2 P38935 VAR_020147 p.Thr671Ala Polymorphism rs622082 - IGHMBP2 P38935 VAR_021899 p.Arg694Trp Polymorphism rs2236654 - IGHMBP2 P38935 VAR_021900 p.Glu928Lys Polymorphism rs2275996 - IGHMBP2 P38935 VAR_022321 p.Leu192Pro Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022322 p.His213Arg Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022323 p.Thr221Ala Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022324 p.Cys241Arg Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022325 p.Glu334Lys Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022326 p.Leu361Pro Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022327 p.Leu364Pro Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022328 p.Glu382Lys Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022329 p.Leu426Pro Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022330 p.Glu514Lys Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022331 p.Asp565Asn Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022333 p.Leu577Pro Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022334 p.Val580Ile Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022335 p.Asn583Ile Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022336 p.Gly586Cys Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022337 p.Arg603His Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022338 p.Arg637Cys Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022339 p.Thr879Lys Disease rs17612126 Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_022340 p.Asp974Glu Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_024242 p.Leu201Ser Polymorphism rs560096 - IGHMBP2 P38935 VAR_024243 p.Ile275Val Polymorphism rs10896380 - IGHMBP2 P38935 VAR_055225 p.Ala75Thr Polymorphism rs2228206 - IGHMBP2 P38935 VAR_055226 p.Pro557Ala Polymorphism rs7122089 - IGHMBP2 P38935 VAR_058497 p.Leu17Pro Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_058498 p.Gln196Arg Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_058499 p.Pro216Leu Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_058500 p.Leu251Pro Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_058501 p.Trp386Arg Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_058502 p.His445Pro Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_058503 p.Leu472Pro Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_058504 p.Thr493Ile Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_058505 p.Arg581Ser Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHMBP2 P38935 VAR_058506 p.Arg603Cys Disease - Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] IGHM P01871 VAR_003903 p.Gly191Ser Polymorphism - - IGHM P01871 VAR_003904 p.Val215Gly Polymorphism rs12365 - IGKC P01834 VAR_003897 p.Val83Leu Unclassified - - IGLL1 P15814 VAR_034869 p.Pro142Leu Polymorphism rs1064422 - IGLL1 P15814 VAR_049878 p.Pro120Leu Polymorphism rs1064425 - IGLL1 P15814 VAR_059392 p.Arg189His Polymorphism rs8138122 - IGSF10 Q6WRI0 VAR_032179 p.Thr124Ile Polymorphism rs35953658 - IGSF10 Q6WRI0 VAR_032180 p.Tyr150Asp Polymorphism rs7619322 - IGSF10 Q6WRI0 VAR_032181 p.Pro571Ser Polymorphism rs17204557 - IGSF10 Q6WRI0 VAR_032182 p.Ser1199Ala Polymorphism rs16863403 - IGSF10 Q6WRI0 VAR_032183 p.Thr1370Ile Polymorphism rs34933248 - IGSF10 Q6WRI0 VAR_032184 p.Tyr1875His Polymorphism rs12487205 - IGSF10 Q6WRI0 VAR_032185 p.Arg2476Trp Polymorphism rs3732775 - IGSF10 Q6WRI0 VAR_032186 p.His2579Tyr Polymorphism rs7624011 - IGSF10 Q6WRI0 VAR_061313 p.Asp795Asn Polymorphism rs58583961 - IGSF11 Q5DX21 VAR_038516 p.Pro39Thr Polymorphism rs2903250 - IGSF11 Q5DX21 VAR_038517 p.Glu333Asp Polymorphism rs36052974 - IGSF11 Q5DX21 VAR_056048 p.Ser388Asn Polymorphism rs34908332 - IGSF1 Q8N6C5 VAR_054960 p.Asn381His Polymorphism rs6637826 - IGSF21 Q96ID5 VAR_035518 p.Thr467Met Unclassified - A colorectal cancer sample IGSF21 Q96ID5 VAR_056049 p.Arg245His Polymorphism rs2355877 - IGSF21 Q96ID5 VAR_056050 p.Thr379Met Polymorphism rs12076815 - IGSF22 Q8N9C0 VAR_032000 p.Ala94Pro Polymorphism rs10832975 - IGSF22 Q8N9C0 VAR_032001 p.Leu130Arg Polymorphism rs3740710 - IGSF22 Q8N9C0 VAR_032002 p.Val414Ile Polymorphism rs10766494 - IGSF22 Q8N9C0 VAR_032003 p.Arg472Gln Polymorphism rs4424652 - IGSF22 Q8N9C0 VAR_032004 p.Ser503Ile Polymorphism rs3887899 - IGSF22 Q8N9C0 VAR_032005 p.Met559Val Polymorphism rs7125943 - IGSF22 Q8N9C0 VAR_032006 p.Leu677Phe Polymorphism rs11024769 - IGSF22 Q8N9C0 VAR_064722 p.Arg7Trp Unclassified - - IGSF3 O75054 VAR_039134 p.Ser51Pro Polymorphism rs3965246 - IGSF3 O75054 VAR_039135 p.Asp1020Glu Polymorphism rs647711 - IGSF3 O75054 VAR_039136 p.Gln1073Arg Polymorphism rs6703791 - IGSF5 Q9NSI5 VAR_038381 p.Arg49Thr Polymorphism rs2205204 - IGSF5 Q9NSI5 VAR_038382 p.Asn156Lys Polymorphism rs11908882 - IGSF5 Q9NSI5 VAR_038383 p.Arg170Trp Polymorphism rs8129968 - IGSF5 Q9NSI5 VAR_038384 p.Asp350Glu Polymorphism rs2837225 - IGSF6 O95976 VAR_039137 p.Gln74Arg Polymorphism rs17851574 - IGSF6 O95976 VAR_039138 p.Phe173Ser Polymorphism rs2290612 - IGSF6 O95976 VAR_039139 p.Asn186Lys Polymorphism rs1134034 - IGSF9 Q9P2J2 VAR_035256 p.Gly34Glu Polymorphism rs3747617 - IGSF9 Q9P2J2 VAR_035257 p.Arg474Pro Polymorphism rs16842846 - IGSF9 Q9P2J2 VAR_035258 p.Pro914Leu Polymorphism rs35574000 - IGSF9 Q9P2J2 VAR_035259 p.Ser1026Thr Polymorphism rs34749866 - IGSF9 Q9P2J2 VAR_035260 p.Pro1117Thr Polymorphism rs1319080 - IHH Q14623 VAR_015981 p.Pro46Leu Disease - Acrocapitofemoral dysplasia (ACFD) [MIM:607778] IHH Q14623 VAR_015982 p.Glu95Lys Disease - Brachydactyly type A1 (BDA1) [MIM:112500] IHH Q14623 VAR_015983 p.Asp100Glu Disease - Brachydactyly type A1 (BDA1) [MIM:112500] IHH Q14623 VAR_015984 p.Asp100Asn Disease rs28936377 Brachydactyly type A1 (BDA1) [MIM:112500] IHH Q14623 VAR_015985 p.Glu131Lys Disease - Brachydactyly type A1 (BDA1) [MIM:112500] IHH Q14623 VAR_015986 p.Val190Ala Disease - Acrocapitofemoral dysplasia (ACFD) [MIM:607778] IKBIP Q70UQ0 VAR_051067 p.Gly265Ser Polymorphism rs1048906 - IKBKAP O95163 VAR_011327 p.Arg696Pro Disease - Hereditary sensory and autonomic neuropathy type 3 (HSAN3) [MIM:223900] IKBKAP O95163 VAR_047476 p.Arg70Cys Polymorphism rs3737311 - IKBKAP O95163 VAR_047477 p.Met182Lys Polymorphism rs10521092 - IKBKAP O95163 VAR_047478 p.Glu312Lys Polymorphism rs1140064 - IKBKAP O95163 VAR_047479 p.Arg525Gln Polymorphism rs838827 - IKBKAP O95163 VAR_047480 p.Gly765Glu Polymorphism rs2230792 - IKBKAP O95163 VAR_047481 p.Ile816Leu Polymorphism rs2230793 - IKBKAP O95163 VAR_047482 p.Ile830Met Polymorphism rs2230794 - IKBKAP O95163 VAR_047483 p.Thr848Asn Polymorphism rs10979599 - IKBKAP O95163 VAR_047484 p.Lys952Ile Polymorphism rs2230798 - IKBKAP O95163 VAR_047485 p.Gly1013Ser Polymorphism rs2230795 - IKBKAP O95163 VAR_047486 p.Cys1072Ser Polymorphism rs3204145 - IKBKAP O95163 VAR_047487 p.Pro1158Leu Polymorphism rs1538660 - IKBKB O14920 VAR_021124 p.Arg554Trp Polymorphism rs17875749 - IKBKB O14920 VAR_035626 p.Ala360Ser Unclassified - Breast cancer samples IKBKB O14920 VAR_040567 p.Gln369Arg Polymorphism rs56411242 - IKBKB O14920 VAR_040568 p.Arg526Gln Polymorphism rs2272736 - IKBKB O14920 VAR_040569 p.Ala710Thr Polymorphism rs34309584 - IKBKB O14920 VAR_040570 p.Phe734Leu Polymorphism rs56301637 - IKBKB O14920 VAR_051628 p.Ala736Thr Polymorphism rs17611716 - IKBKE Q14164 VAR_019989 p.Pro713Leu Polymorphism rs3748022 - IKBKE Q14164 VAR_038816 p.Glu128Lys Polymorphism rs41296028 - IKBKE Q14164 VAR_038817 p.Ala371Thr Polymorphism rs17021877 - IKBKE Q14164 VAR_038818 p.Glu515Asp Polymorphism rs41299015 - IKBKE Q14164 VAR_038819 p.Ile543Met Polymorphism rs41299037 - IKBKE Q14164 VAR_038820 p.Ala602Val Polymorphism rs12059562 - IKBKE Q14164 VAR_040571 p.Thr483Met Polymorphism rs52817862 - IKBKE Q14164 VAR_040572 p.Gly660Glu Polymorphism rs55822317 - IKBKG Q9Y6K9 VAR_009182 p.Met407Val Disease - Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_011320 p.Arg175Pro Disease rs179363868 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] IKBKG Q9Y6K9 VAR_011321 p.Leu227Pro Disease rs179363869 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] IKBKG Q9Y6K9 VAR_011322 p.Ala288Gly Disease - Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] IKBKG Q9Y6K9 VAR_011323 p.Asp311Asn Disease rs179363867 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] IKBKG Q9Y6K9 VAR_011324 p.Asp406Val Disease - Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] IKBKG Q9Y6K9 VAR_011325 p.Cys417Phe Disease rs137853326 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] IKBKG Q9Y6K9 VAR_011326 p.Cys417Arg Disease - Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] IKBKG Q9Y6K9 VAR_026491 p.Glu57Lys Disease rs148695964 Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_026493 p.Asp113Asn Polymorphism rs179363896 - IKBKG Q9Y6K9 VAR_026494 p.Arg123Trp Disease rs179363895 Incontinentia pigmenti (IP) [MIM:308300] IKBKG Q9Y6K9 VAR_026495 p.Leu153Arg Disease - Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] IKBKG Q9Y6K9 VAR_026496 p.Cys417Tyr Disease rs137853326 Immunodeficiency NEMO-related without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584] IKBKG Q9Y6K9 VAR_031958 p.Arg173Gly Disease rs179363866 Recurrent isolated invasive pneumococcal disease type 2 (IPD2) [MIM:300640] IKBKG Q9Y6K9 VAR_031959 p.Glu315Ala Disease - X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636] IKBKG Q9Y6K9 VAR_031960 p.Arg319Gln Disease - X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636] IKBKG Q9Y6K9 VAR_042666 p.Ala323Pro Disease rs179363865 Incontinentia pigmenti (IP) [MIM:308300] IKZF2 Q9UKS7 VAR_028227 p.Asn93Ser Polymorphism rs16849611 - IKZF3 Q9UKT9 VAR_064724 p.Glu277Gln Unclassified - - IL10 P22301 VAR_015883 p.Gly15Arg Unclassified - - IL10RA Q13651 VAR_016294 p.Leu61Val Polymorphism rs4252250 - IL10RA Q13651 VAR_016295 p.Val113Ile Polymorphism rs4252303 - IL10RA Q13651 VAR_016296 p.Ser159Gly Polymorphism rs3135932 - IL10RA Q13651 VAR_016297 p.Arg212Gln Polymorphism rs4252273 - IL10RA Q13651 VAR_016298 p.Arg351Gly Polymorphism rs2229113 - IL10RA Q13651 VAR_016299 p.Ser420Leu Polymorphism rs2229114 - IL10RA Q13651 VAR_020004 p.Ile224Val Polymorphism rs2228055 - IL10RA Q13651 VAR_049175 p.Pro353Ser Polymorphism rs35235073 - IL10RA Q13651 VAR_063542 p.Thr84Ile Disease - Inflammatory bowel disease type 28 (IBD28) [MIM:613148] IL10RA Q13651 VAR_063543 p.Gly141Arg Disease - Inflammatory bowel disease type 28 (IBD28) [MIM:613148] IL10RB Q08334 VAR_020666 p.Lys47Glu Polymorphism rs2834167 - IL11 P20809 VAR_016313 p.Val108Met Polymorphism rs4252576 - IL11 P20809 VAR_016314 p.Arg112His Polymorphism rs4252548 - IL11RA Q14626 VAR_019821 p.Pro65Thr Polymorphism rs11575589 - IL11RA Q14626 VAR_019822 p.Arg395Trp Polymorphism rs11575580 - IL12B P29460 VAR_020001 p.Val33Ile Polymorphism rs3213096 - IL12B P29460 VAR_049170 p.Val298Phe Polymorphism rs3213119 - IL12RB1 P42701 VAR_011986 p.Met365Thr Polymorphism rs375947 - IL12RB1 P42701 VAR_011987 p.Gly378Arg Polymorphism rs401502 - IL12RB1 P42701 VAR_015577 p.Arg213Trp Disease - Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] IL12RB1 P42701 VAR_021281 p.Pro3Gln Polymorphism rs17884651 - IL12RB1 P42701 VAR_021282 p.Pro47Ser Polymorphism rs17887176 - IL12RB1 P42701 VAR_021283 p.Arg156His Polymorphism rs11575926 - IL12RB1 P42701 VAR_021284 p.Gln214Arg Polymorphism rs11575934 - IL12RB1 P42701 VAR_021285 p.His339Gln Polymorphism rs17884957 - IL12RB2 Q99665 VAR_014805 p.Ile185Val Polymorphism rs2307146 - IL12RB2 Q99665 VAR_014806 p.Gly420Arg Polymorphism rs2307148 - IL12RB2 Q99665 VAR_014807 p.Gln426His Polymorphism rs2307145 - IL12RB2 Q99665 VAR_014808 p.Gly465Asp Polymorphism rs2307153 - IL12RB2 Q99665 VAR_016097 p.Ala625Val Polymorphism rs2307154 - IL12RB2 Q99665 VAR_019525 p.Thr201Ile Polymorphism rs7526769 - IL12RB2 Q99665 VAR_019526 p.Arg313Gly Polymorphism - - IL12RB2 Q99665 VAR_019527 p.His720Arg Polymorphism - - IL12RB2 Q99665 VAR_021278 p.Met13Val Polymorphism rs17129772 - IL12RB2 Q99665 VAR_021279 p.Arg149Gln Polymorphism rs17129792 - IL12RB2 Q99665 VAR_021280 p.Leu808Arg Polymorphism rs17838066 - IL12RB2 Q99665 VAR_049169 p.Gly420Ser Polymorphism rs2307148 - IL13 P35225 VAR_010037 p.Arg144Gln Polymorphism rs20541 - IL13RA2 Q14627 VAR_021256 p.Trp111Arg Polymorphism rs17095919 - IL15RA Q13261 VAR_020967 p.Asn182Thr Polymorphism rs2228059 - IL16 Q14005 VAR_019203 p.Arg889Gln Polymorphism rs17875512 - IL16 Q14005 VAR_019204 p.Ser906Leu Polymorphism rs17875513 - IL16 Q14005 VAR_019205 p.Asn1147Lys Polymorphism rs11556218 - IL16 Q14005 VAR_034013 p.Ser1027Thr Polymorphism rs34101586 - IL16 Q14005 VAR_053372 p.His1176Arg Polymorphism rs34159341 - IL16 Q14005 VAR_058310 p.Pro434Ser Polymorphism rs4072111 - IL17C Q9P0M4 VAR_049598 p.Arg25Gly Polymorphism rs11465492 - IL17F Q96PD4 VAR_058287 p.Glu126Gly Polymorphism rs2397084 - IL17F Q96PD4 VAR_058288 p.Val155Ile Polymorphism rs11465553 - IL17F Q96PD4 VAR_058289 p.His161Arg Polymorphism rs763780 - IL17RA Q96F46 VAR_027966 p.Ala367Val Polymorphism rs879577 - IL17RA Q96F46 VAR_027967 p.Arg580His Polymorphism rs17850765 - IL17RA Q96F46 VAR_049176 p.Pro562Gln Polymorphism rs12484684 - IL17RB Q9NRM6 VAR_019209 p.Phe278Leu Polymorphism rs2232346 - IL17RB Q9NRM6 VAR_019210 p.Ile451Thr Polymorphism rs2232350 - IL17RB Q9NRM6 VAR_019211 p.Asn458Ser Polymorphism rs2232351 - IL17RB Q9NRM6 VAR_019212 p.Cys499Arg Polymorphism rs28385751 - IL17RB Q9NRM6 VAR_049177 p.Gly177Ser Polymorphism rs2232337 - IL17RB Q9NRM6 VAR_049178 p.Ala209Val Polymorphism rs2232340 - IL17RB Q9NRM6 VAR_049179 p.Arg232Gln Polymorphism rs2232343 - IL17RB Q9NRM6 VAR_059304 p.Gly177Arg Polymorphism rs2232337 - IL17RC Q8NAC3 VAR_022680 p.Ser182Leu Polymorphism rs708567 - IL17RD Q8NFM7 VAR_023478 p.Thr255Met Polymorphism rs6780995 - IL17RD Q8NFM7 VAR_023479 p.Val301Met Polymorphism rs17057718 - IL17REL Q6ZVW7 VAR_039957 p.Leu333Pro Polymorphism rs5771069 - IL17REL Q6ZVW7 VAR_061187 p.Gly70Arg Polymorphism rs9617090 - IL17RE Q8NFR9 VAR_036956 p.Tyr219Cys Polymorphism rs7356031 - IL17RE Q8NFR9 VAR_036957 p.Pro402Ser Polymorphism rs9870003 - IL17RE Q8NFR9 VAR_036958 p.Ser417Thr Polymorphism rs7647642 - IL18BP O95998 VAR_024497 p.Arg121Gln Polymorphism rs5743673 - IL18BP O95998 VAR_059393 p.Arg91His Polymorphism rs5743672 - IL18R1 Q13478 VAR_053379 p.Arg210His Polymorphism rs11465635 - IL18R1 Q13478 VAR_053380 p.Asn232Lys Polymorphism rs11465644 - IL18R1 Q13478 VAR_053381 p.Ser310Asn Polymorphism rs11465648 - IL18R1 Q13478 VAR_053382 p.Gly423Arg Polymorphism rs12619169 - IL18RAP O95256 VAR_034005 p.Val350Ile Polymorphism rs11465716 - IL19 Q9UHD0 VAR_013077 p.Phe175Ser Polymorphism rs2243191 - IL1A P01583 VAR_014304 p.Arg85Gln Polymorphism rs3783531 - IL1A P01583 VAR_014305 p.Ala114Ser Polymorphism rs17561 - IL1A P01583 VAR_014306 p.Asp138Asn Polymorphism rs3783581 - IL1A P01583 VAR_014600 p.Asn125Asp Polymorphism rs17562 - IL1A P01583 VAR_014601 p.Asp176His Polymorphism rs1801715 - IL1F10 Q8WWZ1 VAR_014262 p.Ile44Thr Polymorphism rs6761276 - IL1F10 Q8WWZ1 VAR_014263 p.Ala51Asp Polymorphism rs6743376 - IL1R1 P14778 VAR_019131 p.Ala124Gly Polymorphism rs2228139 - IL1R1 P14778 VAR_029189 p.Thr344Met Polymorphism rs28362304 - IL1R2 P27930 VAR_019132 p.Glu181Lys Polymorphism rs28385682 - IL1R2 P27930 VAR_019133 p.Glu292Lys Polymorphism rs3218976 - IL1RAPL1 Q9NZN1 VAR_062263 p.Lys379Arg Polymorphism - - IL1RAPL1 Q9NZN1 VAR_062264 p.Gln618His Polymorphism - - IL1RAPL1 Q9NZN1 VAR_062265 p.Thr637Ser Polymorphism - - IL1RAPL1 Q9NZN1 VAR_062266 p.Ile643Val Polymorphism - - IL1RAPL2 Q9NP60 VAR_036592 p.Phe606Leu Unclassified - A breast cancer sample IL1RAP Q9NPH3 VAR_053383 p.Val473Met Polymorphism rs34661910 - IL1RL1 Q01638 VAR_023749 p.Ala78Glu Polymorphism rs1041973 - IL1RL1 Q01638 VAR_053373 p.Ala433Thr Polymorphism rs4988956 - IL1RL1 Q01638 VAR_053374 p.Gln501Lys Polymorphism rs10192036 - IL1RL1 Q01638 VAR_053375 p.Gln501Arg Polymorphism rs10204137 - IL1RL1 Q01638 VAR_053376 p.Thr549Ile Polymorphism rs10192157 - IL1RL1 Q01638 VAR_053377 p.Leu551Ser Polymorphism rs10206753 - IL1RL2 Q9HB29 VAR_025259 p.Val352Ile Polymorphism rs33946385 - IL1RL2 Q9HB29 VAR_025260 p.Leu550Pro Polymorphism rs2302612 - IL1RL2 Q9HB29 VAR_053378 p.Ile237Thr Polymorphism rs13405631 - IL1RN P18510 VAR_049573 p.Ala124Thr Polymorphism rs45507693 - IL20 Q9NYY1 VAR_049577 p.Arg107Gln Polymorphism rs35856950 - IL20RA Q9UHF4 VAR_031613 p.Val259Ile Polymorphism rs1555498 - IL20RA Q9UHF4 VAR_031614 p.Leu382Phe Polymorphism rs1342642 - IL21R Q9HBE5 VAR_014360 p.Arg191Cys Polymorphism rs3093370 - IL21R Q9HBE5 VAR_014361 p.Ser318Arg Polymorphism rs3093385 - IL21R Q9HBE5 VAR_014362 p.Gly484Ser Polymorphism rs3093386 - IL22 Q9GZX6 VAR_013078 p.Ser158Gly Polymorphism rs2227507 - IL22RA1 Q8N6P7 VAR_039699 p.Ser130Pro Polymorphism rs34900099 - IL22RA1 Q8N6P7 VAR_039700 p.Val205Ile Polymorphism rs16829204 - IL22RA1 Q8N6P7 VAR_039701 p.Ala209Ser Polymorphism rs34379702 - IL22RA1 Q8N6P7 VAR_039702 p.Leu222Pro Polymorphism rs34782294 - IL22RA1 Q8N6P7 VAR_039703 p.Met407Val Polymorphism rs35401673 - IL22RA1 Q8N6P7 VAR_039704 p.Arg518Gly Polymorphism rs3795299 - IL22RA2 Q969J5 VAR_021493 p.Leu16Pro Polymorphism rs28385692 - IL22RA2 Q969J5 VAR_021494 p.Glu190Lys Polymorphism rs28362173 - IL23R Q5VWK5 VAR_029752 p.Gln3His Polymorphism rs1884444 - IL23R Q5VWK5 VAR_029753 p.Leu310Pro Polymorphism rs7530511 - IL23R Q5VWK5 VAR_029754 p.Arg381Gln Polymorphism rs11209026 - IL23R Q5VWK5 VAR_047955 p.Thr175Asn Polymorphism rs11465797 - IL24 Q13007 VAR_011974 p.Tyr124His Polymorphism rs1150258 - IL24 Q13007 VAR_013097 p.His125Arg Polymorphism rs3093431 - IL24 Q13007 VAR_013098 p.Val131Leu Polymorphism rs3093446 - IL27 Q8NEV9 VAR_039140 p.Ser59Ala Polymorphism rs17855750 - IL27 Q8NEV9 VAR_039141 p.Leu119Pro Polymorphism rs181206 - IL2RA P01589 VAR_019280 p.Ile272Thr Polymorphism rs12722712 - IL2RB P14784 VAR_019998 p.Asp391Glu Polymorphism rs228942 - IL2RB P14784 VAR_021994 p.Ser83Phe Polymorphism rs2228143 - IL2RB P14784 VAR_061186 p.Leu10Val Polymorphism rs57770674 - IL2RG P31785 VAR_002668 p.Asp39Asn Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002669 p.Cys62Gly Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002670 p.Glu68Gly Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002671 p.Glu68Lys Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002672 p.Asn84Lys Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002673 p.Tyr89Cys Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002674 p.Tyr105Cys Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002675 p.Gly114Asp Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002676 p.Cys115Phe Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002677 p.Cys115Arg Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002678 p.His123Pro Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002679 p.Tyr125Asn Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002680 p.Gln144Pro Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002681 p.Ile153Asn Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002682 p.Ala156Val Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002683 p.Leu162His Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002684 p.Leu172Pro Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002685 p.Leu172Gln Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002686 p.Cys182Arg Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002687 p.Leu183Ser Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002688 p.Arg222Cys Disease - X-linked combined immunodeficiency (XCID) [MIM:312863] IL2RG P31785 VAR_002689 p.Arg224Trp Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002690 p.Arg226Cys Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002691 p.Arg226His Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002692 p.Phe227Cys Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002693 p.Leu230Pro Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002694 p.Cys231Tyr Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002695 p.Gly232Arg Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002697 p.Trp240Cys Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002698 p.Ser241Ile Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002699 p.Met270Arg Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002701 p.Arg285Gln Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG P31785 VAR_002702 p.Leu293Gln Disease - X-linked combined immunodeficiency (XCID) [MIM:312863] IL2RG P31785 VAR_020611 p.Glu109Lys Polymorphism rs17875899 - IL2RG P31785 VAR_059301 p.Thr44Ser Polymorphism rs7885041 - IL31RA Q8NI17 VAR_030328 p.Asp155Asn Polymorphism rs13184107 - IL31RA Q8NI17 VAR_030329 p.Ser497Asn Polymorphism rs161704 - IL32 P24001 VAR_005506 p.Asp152Asn Polymorphism - - IL33 O95760 VAR_049576 p.Ile263Met Polymorphism rs16924241 - IL34 Q6ZMJ4 VAR_033164 p.Glu123Gln Polymorphism rs8046424 - IL34 Q6ZMJ4 VAR_056920 p.Ser195Thr Polymorphism rs7206509 - IL36A Q9UHA7 VAR_024504 p.Gln12Arg Polymorphism rs895497 - IL36A Q9UHA7 VAR_025055 p.Ile63Thr Polymorphism rs28938798 - IL36A Q9UHA7 VAR_025056 p.Gly134Arg Polymorphism rs28947175 - IL36B Q9NZH7 VAR_025057 p.Arg36Cys Polymorphism rs34754959 - IL36G Q9NZH8 VAR_024505 p.Gln69Lys Polymorphism rs6707930 - IL36RN Q9UBH0 VAR_023239 p.Asn47Ser Polymorphism rs28938777 - IL37 Q9NZH6 VAR_014260 p.Gly31Val Polymorphism rs3811046 - IL37 Q9NZH6 VAR_014261 p.Thr42Ala Polymorphism rs3811047 - IL37 Q9NZH6 VAR_023334 p.Pro108Leu Polymorphism rs2723187 - IL37 Q9NZH6 VAR_023335 p.Arg152Trp Polymorphism rs28947200 - IL37 Q9NZH6 VAR_023336 p.Trp164Arg Polymorphism rs2708947 - IL37 Q9NZH6 VAR_023337 p.Asp218Asn Polymorphism rs2723192 - IL37 Q9NZH6 VAR_049574 p.Pro50Arg Polymorphism rs2708943 - IL37 Q9NZH6 VAR_049575 p.Asn54Ser Polymorphism rs2723183 - IL3 P08700 VAR_013071 p.Arg15His Polymorphism rs2069787 - IL3 P08700 VAR_013072 p.Pro27Ser Polymorphism rs40401 - IL3 P08700 VAR_034014 p.Arg3Cys Polymorphism rs35415145 - IL3 P08700 VAR_034015 p.Asn60Ser Polymorphism rs35482671 - IL3RA P26951 VAR_021113 p.Ala12Thr Polymorphism rs6647004 - IL3RA P26951 VAR_021114 p.Glu77Gly Polymorphism rs17886756 - IL3RA P26951 VAR_021115 p.Ser123Thr Polymorphism rs17883572 - IL3RA P26951 VAR_021116 p.Val323Leu Polymorphism rs17883366 - IL4I1 Q96RQ9 VAR_048260 p.Ala501Ser Polymorphism rs2290772 - IL4 P05112 VAR_020392 p.Cys27Arg Polymorphism rs4986964 - IL4R P24394 VAR_008034 p.Ile75Val Polymorphism rs1805010 - IL4R P24394 VAR_008035 p.Gln576Arg Polymorphism rs1801275 - IL4R P24394 VAR_011657 p.Glu400Ala Polymorphism rs1805011 - IL4R P24394 VAR_011658 p.Cys431Arg Polymorphism rs1805012 - IL4R P24394 VAR_011659 p.Ser436Leu Polymorphism rs1805013 - IL4R P24394 VAR_011660 p.Ser503Pro Polymorphism rs1805015 - IL4R P24394 VAR_011661 p.Val579Ile Polymorphism rs3024677 - IL4R P24394 VAR_011662 p.Ser752Ala Polymorphism rs1805016 - IL4R P24394 VAR_011663 p.Ser786Pro Polymorphism rs1805014 - IL4R P24394 VAR_019999 p.Ser387Leu Polymorphism rs6413500 - IL4R P24394 VAR_020000 p.Pro675Ser Polymorphism rs3024678 - IL4R P24394 VAR_049164 p.Ala492Thr Polymorphism rs35606110 - IL4R P24394 VAR_049165 p.Ala492Val Polymorphism rs34727572 - IL4R P24394 VAR_059302 p.Ile75Phe Polymorphism rs1805010 - IL4R P24394 VAR_059303 p.Ile75Leu Polymorphism rs1805010 - IL5RA Q01344 VAR_020654 p.Ile129Val Polymorphism rs2290610 - IL5RA Q01344 VAR_020655 p.Val262Ala Polymorphism rs17879690 - IL6 P05231 VAR_013075 p.Pro32Ser Polymorphism rs2069830 - IL6 P05231 VAR_013076 p.Asp162Val Polymorphism rs2069860 - IL6 P05231 VAR_029266 p.Asp162Glu Polymorphism rs13306435 - IL6R P08887 VAR_021995 p.Asp358Ala Polymorphism rs2228145 - IL6R P08887 VAR_049166 p.Val385Ile Polymorphism rs28730736 - IL6ST P40189 VAR_036165 p.Thr415Ile Unclassified - A colorectal cancer sample IL6ST P40189 VAR_047782 p.Leu8Val Polymorphism rs1063560 - IL6ST P40189 VAR_047783 p.Gly148Arg Polymorphism rs2228044 - IL6ST P40189 VAR_047784 p.Leu397Val Polymorphism rs2228043 - IL6ST P40189 VAR_047785 p.Ile454Thr Polymorphism rs2228046 - IL6ST P40189 VAR_047786 p.Val499Ile Polymorphism rs34417936 - IL7R P16871 VAR_021286 p.Thr66Ile Polymorphism rs1494558 - IL7R P16871 VAR_021287 p.Glu113Asp Polymorphism rs11567735 - IL7R P16871 VAR_021288 p.Ile138Val Polymorphism rs1494555 - IL7R P16871 VAR_021289 p.Thr244Ile Polymorphism rs6897932 - IL7R P16871 VAR_021290 p.Ile356Val Polymorphism rs3194051 - IL7R P16871 VAR_034870 p.Pro132Ser Unclassified - - IL7R P16871 VAR_047742 p.Thr414Met Polymorphism rs2229232 - IL9 P15248 VAR_013079 p.Thr117Met Polymorphism rs2069885 - IL9R Q01113 VAR_014804 p.Glu239Gln Polymorphism rs6522 - IL9R Q01113 VAR_033920 p.Tyr288Cys Polymorphism rs3093514 - IL9R Q01113 VAR_038784 p.Arg63Lys Polymorphism rs3093495 - IL9R Q01113 VAR_055348 p.Gly331Arg Polymorphism rs2230001 - IL9R Q01113 VAR_055349 p.Arg365His Polymorphism rs2228650 - ILDR1 Q86SU0 VAR_065352 p.Arg97Gln Disease - Deafness autosomal recessive type 42 (DFNB42) [MIM:609646] ILDR1 Q86SU0 VAR_065353 p.Arg453Gln Unclassified - - ILDR1 Q86SU0 VAR_065354 p.Arg463Cys Polymorphism - - ILDR2 Q71H61 VAR_049948 p.Val202Ile Polymorphism rs33958744 - ILF3 Q12906 VAR_022159 p.Asp50His Polymorphism rs1064493 - ILF3 Q12906 VAR_048906 p.Ala501Ser Polymorphism rs34520379 - ILKAP Q9H0C8 VAR_061542 p.Ile66Met Polymorphism rs34371548 - ILVBL A1L0T0 VAR_038064 p.Asn374Asp Polymorphism rs17856373 - ILVBL A1L0T0 VAR_061901 p.Arg510Gln Polymorphism rs35548653 - IMMT Q16891 VAR_021530 p.Pro124Ser Polymorphism rs6750289 - IMMT Q16891 VAR_051068 p.Ala294Val Polymorphism rs35233009 - IMPA1 P29218 VAR_049600 p.Ile109Val Polymorphism rs204781 - IMPA2 O14732 VAR_049601 p.Ala88Thr Polymorphism rs16976948 - IMPACT Q9P2X3 VAR_042723 p.Asp125Glu Polymorphism rs582234 - IMPACT Q9P2X3 VAR_042724 p.Leu151Val Polymorphism rs677688 - IMPDH1 P20839 VAR_017031 p.Arg224Pro Disease - Retinitis pigmentosa type 10 (RP10) [MIM:180105] IMPDH1 P20839 VAR_017032 p.Asp226Asn Disease - Retinitis pigmentosa type 10 (RP10) [MIM:180105] IMPDH1 P20839 VAR_017033 p.Val268Ile Disease - Retinitis pigmentosa type 10 (RP10) [MIM:180105] IMPDH1 P20839 VAR_065616 p.Arg105Trp Disease - Leber congenital amaurosis type 11 (LCA11) [MIM:613837] IMPDH1 P20839 VAR_065617 p.Thr116Met Disease - Retinitis pigmentosa type 10 (RP10) [MIM:180105] IMPDH1 P20839 VAR_065618 p.Asn198Lys Disease - Leber congenital amaurosis type 11 (LCA11) [MIM:613837] IMPDH1 P20839 VAR_065619 p.Ala285Thr Polymorphism - - IMPDH1 P20839 VAR_065620 p.Gly324Asp Unclassified - - IMPDH1 P20839 VAR_065621 p.His372Pro Disease - Retinitis pigmentosa type 10 (RP10) [MIM:180105] IMPG1 Q17R60 VAR_027793 p.His518Asp Polymorphism rs3734311 - IMPG1 Q17R60 VAR_027794 p.Arg704Trp Polymorphism rs10943299 - IMPG1 Q17R60 VAR_051069 p.Gly463Val Polymorphism rs9443201 - IMPG1 Q17R60 VAR_051070 p.Lys569Arg Polymorphism rs3734312 - IMPG1 Q17R60 VAR_051071 p.Arg711His Polymorphism rs3734313 - IMPG1 Q17R60 VAR_051072 p.Ser761Asn Polymorphism rs3778005 - IMPG2 Q9BZV3 VAR_039144 p.Lys344Asn Polymorphism rs34375459 - IMPG2 Q9BZV3 VAR_039145 p.Thr674Ile Polymorphism rs571391 - IMPG2 Q9BZV3 VAR_039146 p.Pro1013Leu Polymorphism - - IMPG2 Q9BZV3 VAR_064336 p.Phe124Leu Disease - Maculopathy IMPG2-related (MACLP-IMPG2) [MIM:613581] INADL Q8NI35 VAR_022695 p.Cys744Arg Polymorphism rs1134764 - INADL Q8NI35 VAR_027988 p.Gly303Arg Polymorphism rs3762321 - INADL Q8NI35 VAR_027989 p.Glu362Ala Polymorphism rs1286823 - INADL Q8NI35 VAR_027990 p.Ile400Val Polymorphism rs7516332 - INADL Q8NI35 VAR_027991 p.Gln599His Polymorphism rs1286812 - INADL Q8NI35 VAR_027992 p.Glu779Lys Polymorphism rs12141598 - INADL Q8NI35 VAR_027993 p.Glu780Lys Polymorphism rs12141599 - INADL Q8NI35 VAR_027994 p.Ile870Met Polymorphism rs2799627 - INADL Q8NI35 VAR_027995 p.Gly1178Ser Polymorphism rs1056513 - INADL Q8NI35 VAR_027996 p.Arg1282His Polymorphism rs1134767 - INADL Q8NI35 VAR_027997 p.Val1360Leu Polymorphism rs2498982 - INADL Q8NI35 VAR_027998 p.Ala1504Pro Polymorphism rs13376115 - INA Q16352 VAR_033497 p.Asp149His Polymorphism rs1063456 - INA Q16352 VAR_036369 p.Glu110Gln Unclassified - A breast cancer sample INA Q16352 VAR_049808 p.Thr92Ser Polymorphism rs1063455 - INCENP Q9NQS7 VAR_047127 p.Gly2Val Polymorphism rs1792947 - INCENP Q9NQS7 VAR_047128 p.Arg100His Polymorphism rs12281503 - INCENP Q9NQS7 VAR_047129 p.Ala137Val Polymorphism rs34441559 - INCENP Q9NQS7 VAR_047130 p.Met506Thr Polymorphism rs2277283 - INCENP Q9NQS7 VAR_047131 p.Glu644Asp Polymorphism rs7129085 - INF2 Q27J81 VAR_037117 p.Pro1096Ser Polymorphism rs34251364 - INF2 Q27J81 VAR_037118 p.Thr1135Met Polymorphism rs3803311 - INF2 Q27J81 VAR_063075 p.Ala13Thr Disease - Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063076 p.Leu42Pro Disease - Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063077 p.Glu184Lys Disease - Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063078 p.Ser186Pro Disease - Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063079 p.Leu198Arg Disease - Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063080 p.Arg214His Disease - Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063081 p.Arg218Gln Disease - Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063082 p.Arg218Trp Disease - Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] INF2 Q27J81 VAR_063083 p.Glu220Lys Disease - Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] ING1 Q9UK53 VAR_017420 p.Ala335Asp Disease - Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] ING1 Q9UK53 VAR_017421 p.Cys358Ser Disease - Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] ING1 Q9UK53 VAR_017422 p.Asn359Ser Disease - Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] ING1 Q9UK53 VAR_047097 p.Leu125Arg Polymorphism rs7338333 - ING3 Q9NXR8 VAR_021263 p.Asp20Gly Disease - Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] INHA P05111 VAR_015110 p.Ala257Thr Polymorphism rs12720062 - INHA P05111 VAR_034016 p.Gly227Arg Polymorphism rs12720061 - INHBA P08476 VAR_052566 p.Gln299Pro Polymorphism rs41294833 - INHBC P55103 VAR_024230 p.Arg322Gln Polymorphism rs2229357 - INHBE P58166 VAR_036198 p.Arg62Thr Unclassified - A breast cancer sample INHBE P58166 VAR_036199 p.Gln215His Unclassified - A breast cancer sample INMT O95050 VAR_011616 p.Met205Val Polymorphism rs2302339 - INMT O95050 VAR_011617 p.Glu219Gly Polymorphism rs2302340 - INMT O95050 VAR_036991 p.Asp28Asn Polymorphism rs4723010 - INMT O95050 VAR_036992 p.Asn246Ser Polymorphism rs6970210 - INMT O95050 VAR_036993 p.Phe254Cys Polymorphism rs4720015 - INMT O95050 VAR_036994 p.Arg258His Polymorphism rs6970605 - INMT O95050 VAR_061373 p.Val214Met Polymorphism rs56800285 - INO80B Q9C086 VAR_055083 p.Trp152Gly Polymorphism rs1054209 - INO80D Q53TQ3 VAR_039012 p.Ala358Val Polymorphism rs2909111 - INO80 Q9ULG1 VAR_049500 p.Ile882Val Polymorphism rs34153025 - INO80 Q9ULG1 VAR_061233 p.Val1108Gly Polymorphism rs34178030 - INPP1 P49441 VAR_019669 p.Thr228Ala Polymorphism rs7592352 - INPP1 P49441 VAR_049599 p.Val355Met Polymorphism rs35616200 - INPP4A Q96PE3 VAR_059359 p.Thr604Ala Polymorphism rs2278206 - INPP4B O15327 VAR_023324 p.Tyr311Phe Polymorphism rs1064226 - INPP5A Q14642 VAR_034006 p.Lys45Arg Polymorphism rs1133400 - INPP5B P32019 VAR_028002 p.Met745Thr Polymorphism rs11488569 - INPP5B P32019 VAR_061270 p.Gly46Ser Polymorphism rs56993041 - INPP5D Q92835 VAR_034979 p.Val685Glu Unclassified - - INPP5D Q92835 VAR_059358 p.His1169Tyr Polymorphism rs9247 - INPP5E Q9NRR6 VAR_047078 p.Ile201Met Polymorphism rs36064831 - INPP5E Q9NRR6 VAR_063012 p.Arg378Cys Disease - Joubert syndrome type 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063013 p.Arg435Gln Disease - Joubert syndrome type 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063014 p.Arg512Trp Disease - Joubert syndrome type 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063015 p.Arg515Trp Disease - Joubert syndrome type 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063016 p.Arg563His Disease - Joubert syndrome type 1 (JBTS1) [MIM:213300] INPP5E Q9NRR6 VAR_063017 p.Lys580Glu Disease - Joubert syndrome type 1 (JBTS1) [MIM:213300] INPP5F Q9Y2H2 VAR_042907 p.Ile453Val Polymorphism rs3736822 - INPP5F Q9Y2H2 VAR_042908 p.Asn997Asp Polymorphism rs3188055 - INPP5J Q15735 VAR_028107 p.Ser333Ile Polymorphism rs12485025 - INPP5K Q9BT40 VAR_036497 p.Ser315Phe Unclassified - A breast cancer sample INPPL1 O15357 VAR_034980 p.Leu632Ile Unclassified - - INPPL1 O15357 VAR_034981 p.Val721Met Polymorphism - - INPPL1 O15357 VAR_034982 p.Asn982Ser Unclassified - - INPPL1 O15357 VAR_034983 p.Ala1083Gly Polymorphism rs11548491 - INPPL1 O15357 VAR_034984 p.Ala1114Gly Polymorphism rs1049472 - INSC Q1MX18 VAR_027852 p.Gln450Arg Polymorphism rs7123855 - INSC Q1MX18 VAR_051073 p.Asp333Asn Polymorphism rs17507577 - INSIG1 O15503 VAR_027683 p.Ala27Thr Polymorphism rs1129825 - INSL3 P51460 VAR_013231 p.Ala24Gly Polymorphism - - INSL3 P51460 VAR_013232 p.Val43Leu Polymorphism - - INSL3 P51460 VAR_013233 p.Pro49Ser Polymorphism - - INSL3 P51460 VAR_013234 p.Thr60Ala Polymorphism rs6523 - INSL3 P51460 VAR_013235 p.Pro93Leu Disease - Cryptorchidism (CRYPTO) [MIM:219050] INSL3 P51460 VAR_013236 p.Arg102Cys Disease - Cryptorchidism (CRYPTO) [MIM:219050] INSL3 P51460 VAR_013237 p.Arg102His Polymorphism - - INSL3 P51460 VAR_017122 p.Asn110Lys Disease - Cryptorchidism (CRYPTO) [MIM:219050] INSL5 Q9Y5Q6 VAR_046099 p.Gln50Leu Polymorphism rs549148 - INSL6 Q9Y581 VAR_024329 p.Phe80Leu Polymorphism rs2149554 - INS P01308 VAR_003971 p.His34Asp Disease - Familial hyperproinsulinemia (FHPRI) [MIM:176730] INS P01308 VAR_003972 p.Phe48Ser Unclassified - - INS P01308 VAR_003973 p.Phe49Leu Unclassified - - INS P01308 VAR_003974 p.Arg89His Disease rs28933985 Familial hyperproinsulinemia (FHPRI) [MIM:176730] INS P01308 VAR_003975 p.Arg89Leu Disease - Familial hyperproinsulinemia (FHPRI) [MIM:176730] INS P01308 VAR_003976 p.Val92Leu Unclassified - - INS P01308 VAR_063721 p.Arg6Cys Disease rs121908278 Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370] INS P01308 VAR_063722 p.Arg6His Disease rs121908259 Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370] INS P01308 VAR_063723 p.Ala24Asp Disease rs80356663 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063724 p.His29Asp Disease rs121908272 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063725 p.Gly32Arg Disease rs80356664 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063726 p.Gly32Ser Disease rs80356664 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063727 p.Leu35Pro Disease rs121908273 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063728 p.Cys43Gly Disease rs80356666 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063729 p.Arg46Gln Disease rs121908260 Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370] INS P01308 VAR_063730 p.Gly47Val Disease rs80356667 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063731 p.Phe48Cys Disease rs80356668 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063732 p.Arg55Cys Disease rs121908261 Diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852] INS P01308 VAR_063733 p.Leu68Met Polymorphism rs121908279 - INS P01308 VAR_063734 p.Gly84Arg Unclassified rs121908274 - INS P01308 VAR_063735 p.Arg89Cys Disease rs80356669 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063736 p.Gly90Cys Disease rs80356670 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063737 p.Cys96Ser Disease rs80356671 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063738 p.Cys96Tyr Disease rs80356671 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063739 p.Ser101Cys Disease rs121908276 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063740 p.Tyr103Cys Disease rs121908277 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INS P01308 VAR_063741 p.Tyr108Cys Disease rs80356672 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] INSR P06213 VAR_004079 p.Asn42Lys Disease - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_004080 p.Val55Ala Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004081 p.Gly58Arg Disease rs52836744 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004082 p.Arg113Pro Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004083 p.Pro220Leu Unclassified - - INSR P06213 VAR_004084 p.His236Arg Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004085 p.Leu260Pro Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004086 p.Gly393Arg Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004087 p.Phe409Val Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004088 p.Lys487Glu Disease rs28933083 Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_004089 p.Asn489Ser Disease rs28933085 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004090 p.Arg762Ser Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004091 p.Val1012Met Polymorphism rs1799816 - INSR P06213 VAR_004092 p.Arg1020Gln Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004093 p.Gly1035Val Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004094 p.Ala1075Asp Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004095 p.Ala1161Thr Disease rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004096 p.Ala1162Glu Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004097 p.Met1180Ile Unclassified - - INSR P06213 VAR_004098 p.Arg1191Gln Disease - Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853] INSR P06213 VAR_004099 p.Pro1205Leu Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004100 p.Trp1220Leu Disease rs52800171 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_004101 p.Trp1227Ser Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015539 p.Ile146Met Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015540 p.Arg279Cys Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015542 p.Trp439Ser Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015907 p.Asp86Gly Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015908 p.Leu89Pro Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015909 p.Ala119Val Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015910 p.Val167Leu Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015911 p.Cys280Tyr Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015912 p.Cys301Tyr Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015914 p.Ser350Leu Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015914 p.Ser350Leu Disease - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015915 p.Ile448Thr Polymorphism rs1051691 - INSR P06213 VAR_015916 p.Gln492Lys Polymorphism rs1131851 - INSR P06213 VAR_015917 p.Thr858Ala Disease - Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853] INSR P06213 VAR_015918 p.Ile925Thr Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015919 p.Arg926Trp Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015920 p.Thr937Met Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015921 p.Pro997Thr Disease - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015922 p.Ile1023Phe Polymorphism - - INSR P06213 VAR_015923 p.Ala1055Val Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015924 p.Lys1095Glu Unclassified - - INSR P06213 VAR_015925 p.Arg1119Trp Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015926 p.Ile1143Thr Disease - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015927 p.Arg1158Gln Disease - Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853] INSR P06213 VAR_015928 p.Arg1158Trp Disease - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015929 p.Arg1201Gln Disease rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968] INSR P06213 VAR_015929 p.Arg1201Gln Disease rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015930 p.Arg1201Trp Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015930 p.Arg1201Trp Disease - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_015931 p.Glu1206Asp Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_015932 p.Glu1206Lys Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_015933 p.Tyr1361Cys Polymorphism rs13306449 - INSR P06213 VAR_015934 p.Arg1378Gln Disease rs52826008 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_031518 p.Leu120Gln Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_031519 p.Arg279His Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR P06213 VAR_031520 p.Gly386Ser Disease - Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR P06213 VAR_031521 p.Asn458Asp Disease - Leprechaunism (LEPRCH) [MIM:246200] INSR P06213 VAR_041429 p.Cys228Arg Unclassified - A gastric adenocarcinoma sample INSR P06213 VAR_041430 p.Gln695Arg Polymorphism rs55906835 - INSR P06213 VAR_041431 p.Gly811Ser Polymorphism rs35045353 - INSR P06213 VAR_041432 p.Leu1065Val Polymorphism rs56395521 - INSR P06213 VAR_041433 p.Thr1282Ala Polymorphism rs55875349 - INSR P06213 VAR_055986 p.Pro830Leu Polymorphism rs2162771 - INSR P06213 VAR_058395 p.Ala2Gly Polymorphism rs7508518 - INSR P06213 VAR_058396 p.Tyr171His Polymorphism rs1051692 - INSRR P14616 VAR_041434 p.Ala127Glu Polymorphism rs55757706 - INSRR P14616 VAR_041435 p.Ala161Val Polymorphism rs55971900 - INSRR P14616 VAR_041436 p.Arg244His Polymorphism rs55951840 - INSRR P14616 VAR_041437 p.Cys246Arg Polymorphism rs56377825 - INSRR P14616 VAR_041438 p.Glu278Gln Unclassified - A lung adenocarcinoma sample INSRR P14616 VAR_041439 p.Arg554Cys Polymorphism rs56068937 - INSRR P14616 VAR_041440 p.Pro928Leu Polymorphism rs56252149 - INSRR P14616 VAR_041441 p.Gly1065Glu Unclassified - A glioblastoma multiforme sample INTS12 Q96CB8 VAR_049629 p.Thr323Ala Polymorphism rs34567094 - INTS1 Q8N201 VAR_049627 p.Pro172Leu Polymorphism rs3752714 - INTS2 Q9H0H0 VAR_049628 p.Asn768His Polymorphism rs606072 - INTS7 Q9NVH2 VAR_028963 p.His425Arg Polymorphism rs17851788 - INVS Q9Y283 VAR_022822 p.Pro482Arg Disease - Nephronophthisis type 2 (NPHP2) [MIM:602088] INVS Q9Y283 VAR_022823 p.Leu493Ser Disease - Nephronophthisis type 2 (NPHP2) [MIM:602088] INVS Q9Y283 VAR_044119 p.Ser242Leu Polymorphism rs2491097 - INVS Q9Y283 VAR_044120 p.Ser888Arg Polymorphism rs1052867 - IP6K3 Q96PC2 VAR_031590 p.Arg60Trp Polymorphism rs34431226 - IP6K3 Q96PC2 VAR_031591 p.Ala308Val Polymorphism rs34573836 - IP6K3 Q96PC2 VAR_031592 p.Val312Ile Polymorphism rs4713668 - IP6K3 Q96PC2 VAR_031593 p.Tyr378Ser Polymorphism rs34343647 - IPCEF1 Q8WWN9 VAR_042410 p.Ser194Pro Polymorphism rs1060390 - IPMK Q8NFU5 VAR_022112 p.Met349Ile Polymorphism rs2275443 - IPO11 Q9UI26 VAR_050004 p.Asn260Asp Polymorphism rs35107530 - IPO11 Q9UI26 VAR_050005 p.Ile937Val Polymorphism rs11544795 - IPO4 Q8TEX9 VAR_030758 p.Ala513Val Polymorphism rs7146310 - IPO4 Q8TEX9 VAR_030759 p.Pro580Ala Polymorphism rs11550452 - IPO5 O00410 VAR_012029 p.Leu286Ile Polymorphism rs1053814 - IPO5 O00410 VAR_012030 p.Glu525Lys Polymorphism rs632729 - IPO5 O00410 VAR_012031 p.Glu549Lys Polymorphism rs484770 - IPO5 O00410 VAR_012032 p.Tyr905Cys Polymorphism rs1804740 - IPO5 O00410 VAR_012033 p.Thr969Ile Polymorphism rs1804741 - IPO7 O95373 VAR_050003 p.Thr111Asn Polymorphism rs11042340 - IPO8 O15397 VAR_055118 p.Ile6Phe Polymorphism rs1054423 - IPO8 O15397 VAR_055119 p.Ile640Val Polymorphism rs34119940 - IPPK Q9H8X2 VAR_049641 p.Arg277Trp Polymorphism rs2277168 - IPPK Q9H8X2 VAR_049642 p.Leu376Phe Polymorphism rs2277170 - IPP Q9Y573 VAR_050045 p.Lys264Arg Polymorphism rs28375469 - IQCA1 Q86XH1 VAR_031495 p.Lys452Arg Polymorphism rs10204742 - IQCA1 Q86XH1 VAR_060983 p.Lys8Met Polymorphism rs35114730 - IQCA1 Q86XH1 VAR_060984 p.Gln362Arg Polymorphism rs3754644 - IQCB1 Q15051 VAR_051074 p.Phe142Leu Polymorphism rs11926958 - IQCB1 Q15051 VAR_051075 p.Ile393Asn Polymorphism rs1141528 - IQCB1 Q15051 VAR_051076 p.Arg435Cys Polymorphism rs11920543 - IQCB1 Q15051 VAR_061668 p.Cys434Tyr Polymorphism rs17849995 - IQCC Q4KMZ1 VAR_031411 p.Phe209Cys Polymorphism rs3903683 - IQCC Q4KMZ1 VAR_031412 p.Cys217Tyr Polymorphism rs12032332 - IQCC Q4KMZ1 VAR_031413 p.Pro464Leu Polymorphism rs41306593 - IQCD Q96DY2 VAR_056921 p.Leu136Val Polymorphism rs7966313 - IQCE Q6IPM2 VAR_031697 p.His101Asn Polymorphism rs11976972 - IQCE Q6IPM2 VAR_031698 p.Ala546Val Polymorphism rs2293404 - IQCE Q6IPM2 VAR_031699 p.Arg587His Polymorphism rs10950797 - IQCE Q6IPM2 VAR_031700 p.Thr596Ala Polymorphism rs2293407 - IQCE Q6IPM2 VAR_031701 p.Leu666Val Polymorphism rs3735109 - IQCE Q6IPM2 VAR_031702 p.Thr690Met Polymorphism rs1061566 - IQCF1 Q8N6M8 VAR_031414 p.Arg114Gln Polymorphism rs11927897 - IQCF1 Q8N6M8 VAR_055096 p.Gln76Lys Polymorphism rs17852683 - IQCG Q9H095 VAR_031415 p.Ala112Asp Polymorphism rs9880989 - IQCH Q86VS3 VAR_051077 p.Val932Leu Polymorphism rs3985641 - IQCK Q8N0W5 VAR_031416 p.Leu220Pro Polymorphism rs7191155 - IQGAP1 P46940 VAR_049134 p.Ser256Ala Polymorphism rs12324924 - IQGAP2 Q13576 VAR_055823 p.Val455Ala Polymorphism rs7722711 - IQGAP2 Q13576 VAR_055824 p.Pro479Arg Polymorphism rs3822530 - IQGAP2 Q13576 VAR_055825 p.Arg714Trp Polymorphism rs35366349 - IQGAP2 Q13576 VAR_055826 p.Thr894Ile Polymorphism rs34950321 - IQGAP2 Q13576 VAR_055827 p.Arg1052Ile Polymorphism rs2287932 - IQGAP2 Q13576 VAR_055828 p.Asn1184Ser Polymorphism rs10454915 - IQGAP2 Q13576 VAR_055829 p.Arg1379Trp Polymorphism rs17681908 - IQGAP2 Q13576 VAR_059292 p.Lys532Glu Polymorphism rs2909888 - IQGAP2 Q13576 VAR_062958 p.Asp527Glu Polymorphism rs2431352 - IQGAP2 Q13576 VAR_062959 p.Leu629Phe Polymorphism rs2455230 - IQGAP2 Q13576 VAR_062960 p.Ile724Val Polymorphism rs2431363 - IQGAP3 Q86VI3 VAR_055278 p.Arg391Gly Polymorphism rs2488269 - IQGAP3 Q86VI3 VAR_055279 p.Val410Leu Polymorphism rs11264498 - IQGAP3 Q86VI3 VAR_055280 p.Asp645Asn Polymorphism rs11264496 - IQGAP3 Q86VI3 VAR_055281 p.Arg663Cys Polymorphism rs744224 - IQGAP3 Q86VI3 VAR_055282 p.His770Tyr Polymorphism rs1078890 - IQGAP3 Q86VI3 VAR_055283 p.Gln1061His Polymorphism rs11804414 - IQGAP3 Q86VI3 VAR_055284 p.Pro1097Ser Polymorphism rs12562301 - IQSEC1 Q6DN90 VAR_027004 p.Val882Ile Polymorphism rs17541405 - IQSEC1 Q6DN90 VAR_051927 p.Pro640Ser Polymorphism rs35319679 - IQSEC2 Q5JU85 VAR_063742 p.Arg349Cys Disease - Mental retardation X-linked type 1 (MRX1) [MIM:309530] IQSEC2 Q5JU85 VAR_063743 p.Arg748Gln Disease - Mental retardation X-linked type 1 (MRX1) [MIM:309530] IQSEC2 Q5JU85 VAR_063744 p.Gln791Pro Disease - Mental retardation X-linked type 1 (MRX1) [MIM:309530] IQSEC2 Q5JU85 VAR_063745 p.Arg853Trp Disease - Mental retardation X-linked type 1 (MRX1) [MIM:309530] IQSEC3 Q9UPP2 VAR_061789 p.Ala558Gly Polymorphism rs56204927 - IQUB Q8NA54 VAR_030332 p.Val126Met Polymorphism rs10255061 - IQUB Q8NA54 VAR_030333 p.Asp691Asn Polymorphism rs17146009 - IQUB Q8NA54 VAR_030334 p.Arg735Pro Polymorphism rs1525626 - IQUB Q8NA54 VAR_036291 p.Arg735His Unclassified - A colorectal cancer sample IRAK1 P51617 VAR_040573 p.Thr398Met Polymorphism rs56340948 - IRAK1 P51617 VAR_040574 p.Val412Met Unclassified - A glioblastoma multiforme sample IRAK1 P51617 VAR_040575 p.Gln421His Unclassified - A breast pleomorphic lobular carcinoma sample IRAK1 P51617 VAR_040576 p.Ser532Leu Polymorphism rs1059703 - IRAK1 P51617 VAR_040577 p.Gly619Ser Polymorphism rs34112487 - IRAK1 P51617 VAR_040578 p.Thr625Met Polymorphism rs35638718 - IRAK1 P51617 VAR_040579 p.Arg638Trp Polymorphism rs56082801 - IRAK1 P51617 VAR_040580 p.Ser690Gly Unclassified - A lung adenocarcinoma sample IRAK1 P51617 VAR_051629 p.Arg194His Polymorphism rs11465830 - IRAK1 P51617 VAR_051630 p.Phe196Ser Polymorphism rs1059702 - IRAK1 P51617 VAR_051631 p.Cys203Ser Polymorphism rs10127175 - IRAK2 O43187 VAR_030527 p.Ser47Tyr Polymorphism rs11465864 - IRAK2 O43187 VAR_030528 p.Leu392Val Polymorphism rs3844283 - IRAK2 O43187 VAR_030529 p.Asp431Glu Polymorphism rs708035 - IRAK2 O43187 VAR_030530 p.Leu439Val Polymorphism rs11465927 - IRAK2 O43187 VAR_030531 p.Leu503Ile Polymorphism rs9854688 - IRAK2 O43187 VAR_030532 p.Asp574His Polymorphism rs11465930 - IRAK2 O43187 VAR_041342 p.Arg43Gln Polymorphism rs34945585 - IRAK2 O43187 VAR_041343 p.Ile99Val Polymorphism rs55898544 - IRAK2 O43187 VAR_041344 p.Arg147Thr Polymorphism rs56053222 - IRAK2 O43187 VAR_041345 p.Arg214Gly Polymorphism rs35060588 - IRAK2 O43187 VAR_041346 p.Ser249Leu Unclassified - A lung adenocarcinoma sample IRAK2 O43187 VAR_041347 p.Pro421Thr Unclassified - A lung adenocarcinoma sample IRAK2 O43187 VAR_041348 p.Asp469Asn Polymorphism rs56242986 - IRAK2 O43187 VAR_041349 p.Arg566Trp Polymorphism rs55740652 - IRAK3 Q9Y616 VAR_019812 p.Ile147Val Polymorphism rs1152888 - IRAK3 Q9Y616 VAR_031077 p.Ile270Val Polymorphism rs11465972 - IRAK3 Q9Y616 VAR_033901 p.Gly269Ser Polymorphism rs35823766 - IRAK3 Q9Y616 VAR_035212 p.Pro22Leu Unclassified - - IRAK3 Q9Y616 VAR_035213 p.Pro111Ala Unclassified - - IRAK3 Q9Y616 VAR_035214 p.Val134Met Unclassified - - IRAK3 Q9Y616 VAR_035215 p.Leu400Val Unclassified - - IRAK3 Q9Y616 VAR_035216 p.Arg429Gln Unclassified - - IRAK3 Q9Y616 VAR_040581 p.His57Arg Polymorphism rs35239505 - IRAK3 Q9Y616 VAR_040582 p.Gly84Ser Polymorphism rs34443407 - IRAK3 Q9Y616 VAR_040583 p.Ile171Val Polymorphism rs34682166 - IRAK3 Q9Y616 VAR_040584 p.Ser288Leu Polymorphism rs35574245 - IRAK3 Q9Y616 VAR_040585 p.Arg384Gln Polymorphism rs34272472 - IRAK3 Q9Y616 VAR_040586 p.Met391Thr Polymorphism rs35737689 - IRAK3 Q9Y616 VAR_040587 p.Asp482Asn Polymorphism rs35756811 - IRAK4 Q9NWZ3 VAR_019354 p.Ser98Arg Polymorphism rs4251469 - IRAK4 Q9NWZ3 VAR_019355 p.His390Arg Polymorphism rs4251583 - IRAK4 Q9NWZ3 VAR_019356 p.Ala428Thr Polymorphism rs4251545 - IRAK4 Q9NWZ3 VAR_040588 p.Ile5Val Polymorphism rs56312115 - IRAK4 Q9NWZ3 VAR_040589 p.Met355Val Polymorphism - - IRAK4 Q9NWZ3 VAR_040590 p.Arg391His Polymorphism rs55944915 - IREB2 P48200 VAR_058409 p.Val159Leu Polymorphism rs2958720 - IREB2 P48200 VAR_058410 p.Ile580Thr Polymorphism rs2230940 - IRF1 P10914 VAR_065134 p.Met8Leu Disease - Gastric cancer (GASC) [MIM:613659] IRF1 P10914 VAR_065135 p.Trp11Arg Disease - Gastric cancer (GASC) [MIM:613659] IRF2BP1 Q8IU81 VAR_042502 p.Met24Ile Polymorphism rs11550349 - IRF2BP2 Q7Z5L9 VAR_042503 p.Ala254Val Polymorphism rs11502 - IRF3 Q14653 VAR_011901 p.Arg96Gln Polymorphism rs968457 - IRF3 Q14653 VAR_011902 p.Glu377Lys Polymorphism rs1049486 - IRF3 Q14653 VAR_011903 p.Ser427Thr Polymorphism rs7251 - IRF3 Q14653 VAR_049643 p.Tyr107Phe Polymorphism rs34745118 - IRF6 O14896 VAR_014961 p.Ala2Val Disease rs28942093 Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014962 p.Val18Ala Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014963 p.Val18Met Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014964 p.Pro39Ala Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014965 p.Trp60Gly Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014966 p.Ala61Gly Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014967 p.Lys66Thr Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014968 p.Gly70Arg Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014969 p.Pro76Ser Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014970 p.Gln82Lys Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014971 p.Arg84Cys Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014972 p.Arg84His Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014973 p.Asn88His Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014974 p.Lys89Glu Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_014975 p.Ser90Gly Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014976 p.Asp98His Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014977 p.Arg250Gln Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014978 p.Gln273Arg Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014979 p.Val274Ile Polymorphism rs2235371 - IRF6 O14896 VAR_014981 p.Leu294Pro Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014982 p.Val297Ile Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014983 p.Lys320Glu Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014984 p.Val321Met Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014985 p.Gly325Glu Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014986 p.Leu345Pro Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014987 p.Cys347Phe Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014988 p.Phe369Ser Disease - Non-syndromic orofacial cleft type 6 (OFC6) [MIM:608864] IRF6 O14896 VAR_014988 p.Phe369Ser Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014989 p.Cys374Trp Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014990 p.Lys388Glu Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_014991 p.Asp430Asn Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_030046 p.Arg6Cys Disease rs28942094 Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030047 p.Ala16Val Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030048 p.Leu22Pro Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_030048 p.Leu22Pro Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030049 p.Arg45Gln Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030050 p.Thr64Ile Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030051 p.Arg84Gly Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030052 p.Thr100Ala Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030053 p.Leu251Pro Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030054 p.Glu349Val Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030055 p.Pro396Ser Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_030056 p.Arg400Trp Disease rs28942095 Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_059080 p.Arg339Ile Disease - Van der Woude syndrome type 1 (VWS1) [MIM:119300] IRF6 O14896 VAR_064475 p.Arg84Leu Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF6 O14896 VAR_064476 p.Ser424Leu Disease - Popliteal pterygium syndrome (PPS) [MIM:119500] IRF7 Q92985 VAR_027957 p.Lys179Glu Polymorphism rs1061502 - IRF7 Q92985 VAR_034017 p.Gln412Arg Polymorphism rs1131665 - IRF7 Q92985 VAR_061273 p.Asp204Asn Polymorphism rs41313489 - IRF8 Q02556 VAR_036490 p.Arg81Lys Unclassified - A breast cancer sample IRF8 Q02556 VAR_036491 p.Ala197Thr Unclassified - A breast cancer sample IRGC Q6NXR0 VAR_032008 p.Asp135Asn Polymorphism rs11555891 - IRGM A1A4Y4 VAR_039899 p.Glu17Asp Polymorphism - - IRGM A1A4Y4 VAR_039900 p.Thr94Lys Polymorphism - - IRS1 P35568 VAR_005299 p.Ala512Pro Polymorphism rs1801276 - IRS1 P35568 VAR_005300 p.Gly971Arg Polymorphism rs1801278 - IRS1 P35568 VAR_005302 p.Ser1043Tyr Disease - The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853] IRS1 P35568 VAR_005303 p.Cys1095Tyr Disease - The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853] IRS1 P35568 VAR_014853 p.Pro158Arg Polymorphism rs1801108 - IRS1 P35568 VAR_014854 p.Met209Thr Polymorphism rs1801118 - IRS1 P35568 VAR_014855 p.Ser809Phe Polymorphism rs1801120 - IRS1 P35568 VAR_014856 p.Ser892Gly Polymorphism rs1801277 - IRS1 P35568 VAR_021837 p.Asp1137Asn Polymorphism rs3731594 - IRS1 P35568 VAR_025320 p.Thr608Arg Unclassified - - IRS2 Q9Y4H2 VAR_014857 p.Gly1057Asp Polymorphism rs1805097 - IRS2 Q9Y4H2 VAR_021557 p.Gly879Ser Polymorphism - - IRS2 Q9Y4H2 VAR_021558 p.Gly882Ala Polymorphism - - IRS2 Q9Y4H2 VAR_033992 p.His789Tyr Polymorphism rs35223808 - IRS2 Q9Y4H2 VAR_033993 p.Val999Met Polymorphism rs35927012 - IRS4 O14654 VAR_038042 p.Ala20Val Unclassified - A colorectal cancer sample IRS4 O14654 VAR_038043 p.Gly215Glu Unclassified - A colorectal cancer sample IRS4 O14654 VAR_038044 p.Gly557Arg Unclassified - A colorectal cancer sample IRS4 O14654 VAR_051078 p.Leu34Phe Polymorphism rs1801162 - IRS4 O14654 VAR_051079 p.Asn508Lys Polymorphism rs34287560 - IRS4 O14654 VAR_051080 p.His879Asp Polymorphism rs1801164 - IRS4 O14654 VAR_061669 p.Asp1230Tyr Polymorphism rs28546943 - IRX3 P78415 VAR_055957 p.Gln479His Polymorphism rs1126960 - IRX3 P78415 VAR_061267 p.Leu422Pro Polymorphism rs1450355 - IRX4 P78413 VAR_049583 p.Ala119Thr Polymorphism rs2232376 - ISCU Q9H1K1 VAR_060728 p.Ala12Val Polymorphism rs2287555 - ISG15 P05161 VAR_016181 p.Ser83Asn Polymorphism rs1921 - ISG20L2 Q9H9L3 VAR_038171 p.Asn130Ser Polymorphism rs3795737 - ISLR2 Q6UXK2 VAR_049881 p.Ser137Phe Polymorphism rs3889598 - ISLR O14498 VAR_037454 p.Asp183Asn Unclassified - A colorectal cancer sample ISM1 B1AKI9 VAR_052664 p.Pro193Arg Polymorphism rs3747933 - ISM2 Q6H9L7 VAR_035365 p.Ala94Thr Polymorphism rs3742728 - ISM2 Q6H9L7 VAR_035366 p.Pro133Ala Polymorphism rs11850175 - ISX Q2M1V0 VAR_032448 p.Ser28Gly Polymorphism rs361863 - ISX Q2M1V0 VAR_032449 p.Pro57Ser Polymorphism rs362090 - ISX Q2M1V0 VAR_032450 p.Arg83Gln Polymorphism rs8140287 - ISX Q2M1V0 VAR_032451 p.Ala158Val Polymorphism rs7291048 - ITGA10 O75578 VAR_027768 p.Arg381Gln Polymorphism rs6665210 - ITGA10 O75578 VAR_027769 p.Arg691His Polymorphism rs2274618 - ITGA10 O75578 VAR_027770 p.Arg725Gln Polymorphism rs2274616 - ITGA10 O75578 VAR_034026 p.Arg668Trp Polymorphism rs36073645 - ITGA10 O75578 VAR_034027 p.Ala702Thr Polymorphism rs35515885 - ITGA11 Q9UKX5 VAR_009889 p.Val433Met Polymorphism rs2306022 - ITGA11 Q9UKX5 VAR_009890 p.Leu524Arg Polymorphism rs7168069 - ITGA11 Q9UKX5 VAR_009891 p.Pro972Leu Polymorphism rs4777035 - ITGA11 Q9UKX5 VAR_009892 p.Met1003Ile Polymorphism - - ITGA11 Q9UKX5 VAR_009894 p.Leu1093Val Polymorphism - - ITGA11 Q9UKX5 VAR_020038 p.Met471Leu Polymorphism rs2306024 - ITGA11 Q9UKX5 VAR_020039 p.Gln891Lys Polymorphism rs2271725 - ITGA1 P56199 VAR_034022 p.Thr480Met Polymorphism rs4145748 - ITGA1 P56199 VAR_034023 p.Ile961Met Polymorphism rs12520591 - ITGA1 P56199 VAR_034024 p.Glu1108Gly Polymorphism rs988574 - ITGA1 P56199 VAR_049630 p.Val670Ile Polymorphism rs2279587 - ITGA2B P08514 VAR_003979 p.Gly273Asp Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_003980 p.Arg358His Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_003981 p.Gly449Asp Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_003982 p.Gln778Pro Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_003983 p.Ile874Ser Polymorphism rs5911 - ITGA2B P08514 VAR_009885 p.Pro176Ala Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_009886 p.Pro176Leu Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_009887 p.Phe320Ser Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_009888 p.Glu355Lys Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_014176 p.Thr40Ile Polymorphism rs5915 - ITGA2B P08514 VAR_014177 p.Tyr968Asn Polymorphism rs5914 - ITGA2B P08514 VAR_030445 p.Leu86Pro Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030446 p.Ala139Val Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030447 p.Cys161Trp Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030448 p.Tyr174His Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030449 p.Phe202Cys Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030450 p.Thr207Ile Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030451 p.Leu214Pro Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030452 p.Phe222Leu Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030453 p.Gly267Glu Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030454 p.Val329Phe Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030455 p.Gly380Asp Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030456 p.Ile405Thr Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030457 p.Gly412Arg Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030459 p.Ala581Asp Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030460 p.Ile596Thr Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030461 p.Cys705Arg Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030462 p.Leu752Val Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030463 p.Arg755Pro Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030464 p.Leu847Pro Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030465 p.Pro943Leu Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030466 p.Val982Met Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_030467 p.Ala989Thr Polymorphism - - ITGA2B P08514 VAR_030468 p.Arg1026Gln Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B P08514 VAR_054820 p.Gly313Ala Polymorphism rs1126554 - ITGA2B P08514 VAR_054821 p.Val649Leu Polymorphism rs7207402 - ITGA2 P17301 VAR_003977 p.Lys534Glu Polymorphism rs1801106 - ITGA2 P17301 VAR_020036 p.Lys1127Gln Polymorphism rs3212645 - ITGA2 P17301 VAR_021855 p.Asn927Ser Polymorphism rs2287870 - ITGA2 P17301 VAR_029146 p.Asn691Lys Polymorphism rs3212557 - ITGA3 P26006 VAR_055967 p.Ile268Phe Polymorphism rs2230390 - ITGA3 P26006 VAR_055968 p.Ala719Thr Polymorphism rs2230392 - ITGA3 P26006 VAR_055969 p.Gly840Ser Polymorphism rs2301626 - ITGA4 P13612 VAR_003978 p.Arg878Gln Polymorphism rs1143676 - ITGA4 P13612 VAR_047423 p.Ser634Thr Polymorphism rs35322532 - ITGA4 P13612 VAR_047424 p.Val824Ala Polymorphism rs1143675 - ITGA5 P08648 VAR_049631 p.Arg585Ile Polymorphism rs12318746 - ITGA7 Q13683 VAR_014759 p.Arg695His Polymorphism rs1800974 - ITGA8 P53708 VAR_018673 p.Val216Leu Polymorphism rs7895372 - ITGA8 P53708 VAR_018674 p.Ser577Phe Polymorphism rs2298033 - ITGA8 P53708 VAR_018675 p.Gln581Pro Polymorphism rs9333269 - ITGA8 P53708 VAR_018676 p.Arg748His Polymorphism rs9333174 - ITGA8 P53708 VAR_018677 p.Ile993Val Polymorphism rs9333241 - ITGA8 P53708 VAR_018678 p.Val994Ala Polymorphism rs1041135 - ITGA8 P53708 VAR_034682 p.Val567Leu Polymorphism - - ITGA9 Q13797 VAR_036073 p.Arg750Cys Unclassified - A breast cancer sample ITGA9 Q13797 VAR_055091 p.Gly507Glu Polymorphism rs267561 - ITGAE P38570 VAR_008884 p.Asp360Glu Polymorphism - - ITGAE P38570 VAR_008885 p.Cys1041Ser Polymorphism - - ITGAE P38570 VAR_020037 p.Gln892His Polymorphism rs3744679 - ITGAE P38570 VAR_034025 p.Arg950Trp Polymorphism rs1716 - ITGAE P38570 VAR_054889 p.Ile477Val Polymorphism rs220479 - ITGAE P38570 VAR_054890 p.Arg482Gln Polymorphism rs2272606 - ITGAE P38570 VAR_054891 p.Val1019Ala Polymorphism rs2976230 - ITGAL P20701 VAR_025235 p.Arg144His Polymorphism rs34166708 - ITGAL P20701 VAR_025236 p.Arg214Trp Polymorphism rs1064524 - ITGAL P20701 VAR_025237 p.Gln746Lys Polymorphism rs34838942 - ITGAL P20701 VAR_025238 p.Arg791Thr Polymorphism rs2230433 - ITGAM P11215 VAR_043870 p.Arg77His Polymorphism rs1143679 - ITGAM P11215 VAR_043871 p.Met441Thr Polymorphism rs11861251 - ITGAM P11215 VAR_043872 p.Ala858Val Polymorphism rs1143683 - ITGAM P11215 VAR_043873 p.Pro1146Ser Polymorphism rs1143678 - ITGAV P06756 VAR_024289 p.Ile405Val Polymorphism rs3738918 - ITGAV P06756 VAR_031547 p.Val783Ile Polymorphism rs2230616 - ITGAV P06756 VAR_055970 p.Ser548Ala Polymorphism rs2230615 - ITGAX P20702 VAR_018672 p.Trp48Arg Polymorphism rs2230424 - ITGAX P20702 VAR_031925 p.Ala251Thr Polymorphism rs2230428 - ITGAX P20702 VAR_031926 p.Pro517Arg Polymorphism rs2230429 - ITGAX P20702 VAR_031927 p.Glu547Lys Polymorphism rs17853815 - ITGAX P20702 VAR_031928 p.Phe971Leu Polymorphism rs2230427 - ITGAX P20702 VAR_049632 p.Phe201Leu Polymorphism rs1574566 - ITGAX P20702 VAR_059363 p.Ile564Val Polymorphism rs2230430 - ITGB2 P05107 VAR_003984 p.Asp128Asn Disease rs137852615 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003985 p.Leu149Pro Disease rs137852611 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003986 p.Gly169Arg Disease rs137852612 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003987 p.Pro178Leu Disease rs137852614 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003988 p.Lys196Thr Disease rs137852610 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003989 p.Gly284Ser Disease rs137852616 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003990 p.Asn351Ser Disease rs137852613 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003991 p.Arg586Trp Disease rs5030672 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_003992 p.Arg593Cys Disease rs137852609 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_013402 p.Ser138Pro Disease rs137852617 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_013403 p.Gly273Arg Disease rs137852618 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_030035 p.Gln354His Polymorphism rs235330 - ITGB2 P05107 VAR_065661 p.Asp128Tyr Disease - Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_065662 p.Ala239Thr Disease rs179363873 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_065663 p.Asp300Val Disease rs179363874 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB2 P05107 VAR_065664 p.Gly716Ala Disease rs179363872 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] ITGB3BP Q13352 VAR_048691 p.Ile30Val Polymorphism rs1058057 - ITGB3 P05106 VAR_003993 p.Leu59Pro Polymorphism rs5918 - ITGB3 P05106 VAR_003994 p.Arg169Gln Polymorphism rs5917 - ITGB3 P05106 VAR_003995 p.Pro433Ala Unclassified - - ITGB3 P05106 VAR_003996 p.Arg515Gln Polymorphism rs13306487 - ITGB3 P05106 VAR_003997 p.Arg662Cys Unclassified - - ITGB3 P05106 VAR_003998 p.Asp145Tyr Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_003999 p.Arg240Gln Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_004000 p.Arg240Trp Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_004001 p.His306Pro Disease rs13306476 Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_004002 p.Cys400Tyr Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_004003 p.Cys586Phe Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_004004 p.Gly598Ser Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_004005 p.Ser778Pro Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_010649 p.Leu143Trp Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_010651 p.Ser188Leu Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_010671 p.Cys568Arg Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_010672 p.Gly605Ser Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_014178 p.Val453Ile Polymorphism rs5921 - ITGB3 P05106 VAR_030473 p.Arg119Trp Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030474 p.Tyr141Cys Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030475 p.Asp145Asn Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030476 p.Met150Val Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030477 p.Thr166Ile Unclassified - - ITGB3 P05106 VAR_030478 p.Leu222Pro Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030479 p.Arg242Gln Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030480 p.Asp243Val Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030481 p.Leu288Pro Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030482 p.Met321Leu Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030483 p.Ile330Asn Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030484 p.Cys532Tyr Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030485 p.Cys586Arg Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_030486 p.Cys601Arg Disease - Glanzmann thrombasthenia (GT) [MIM:273800] ITGB3 P05106 VAR_049633 p.Leu66Arg Polymorphism rs36080296 - ITGB4 P16144 VAR_004006 p.Cys61Tyr Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_004007 p.Leu156Pro Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_004008 p.Cys245Gly Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_004009 p.Arg252Cys Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_004010 p.Cys562Arg Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_004011 p.Arg1281Trp Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_010652 p.Cys38Arg Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_011292 p.Arg98His Polymorphism - - ITGB4 P16144 VAR_011293 p.Asp131Tyr Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_011294 p.Gly273Asp Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_011295 p.Arg283Cys Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_011296 p.Val325Asp Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_011297 p.Leu336Pro Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_011298 p.Arg844Leu Polymorphism - - ITGB4 P16144 VAR_011299 p.Gly931Asp Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] ITGB4 P16144 VAR_011300 p.His1216Gln Polymorphism - - ITGB4 P16144 VAR_011301 p.Arg1225His Disease - Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] ITGB4 P16144 VAR_027803 p.Gln478His Polymorphism rs8079267 - ITGB4 P16144 VAR_027804 p.Leu1779Pro Polymorphism rs871443 - ITGB4 P16144 VAR_055971 p.Thr1764Ser Polymorphism rs1051486 - ITGB5 P18084 VAR_024290 p.Leu428Val Polymorphism rs2291090 - ITGB5 P18084 VAR_049634 p.Arg431Gln Polymorphism rs2291089 - ITGB5 P18084 VAR_049635 p.Asn477Ser Polymorphism rs2291087 - ITGB6 P18564 VAR_049636 p.Pro437Thr Polymorphism rs2305820 - ITGB7 P26010 VAR_049637 p.His672Tyr Polymorphism rs11539433 - ITGB8 P26012 VAR_034028 p.Ser552Phe Polymorphism rs5002476 - ITGBL1 O95965 VAR_039542 p.Ala154Ser Polymorphism rs1140605 - ITIH1 P19827 VAR_004019 p.Glu585Val Polymorphism rs678 - ITIH1 P19827 VAR_004020 p.Gln595Arg Polymorphism rs1042779 - ITIH1 P19827 VAR_011873 p.Ser263Thr Polymorphism rs1042777 - ITIH1 P19827 VAR_011874 p.Gly695Cys Polymorphism rs1042904 - ITIH1 P19827 VAR_011875 p.Asp844Glu Polymorphism rs1042849 - ITIH2 P19823 VAR_055248 p.Asn263Ser Polymorphism rs7075296 - ITIH2 P19823 VAR_055249 p.Leu569Val Polymorphism rs7084817 - ITIH2 P19823 VAR_055250 p.Pro674Ala Polymorphism rs3740217 - ITIH3 Q06033 VAR_049647 p.Gln315Lys Polymorphism rs3617 - ITIH3 Q06033 VAR_049648 p.Thr340Met Polymorphism rs35271262 - ITIH3 Q06033 VAR_049649 p.Thr751Ala Polymorphism rs9883888 - ITIH3 Q06033 VAR_049650 p.Arg825Gln Polymorphism rs2710330 - ITIH3 Q06033 VAR_049651 p.Ala858Val Polymorphism rs2710329 - ITIH3 Q06033 VAR_061275 p.Pro640Leu Polymorphism rs60805548 - ITIH4 Q14624 VAR_013836 p.Ile86Asn Polymorphism - - ITIH4 Q14624 VAR_027869 p.Ile85Asn Polymorphism rs13072536 - ITIH4 Q14624 VAR_027870 p.Gln669Leu Polymorphism rs2276814 - ITIH4 Q14624 VAR_027871 p.Pro698Thr Polymorphism rs4687657 - ITIH4 Q14624 VAR_027872 p.Met714Ile Polymorphism rs2256734 - ITIH4 Q14624 VAR_027873 p.Leu791Pro Polymorphism rs2535621 - ITIH5 Q86UX2 VAR_042847 p.Glu139Lys Polymorphism rs12761771 - ITIH5 Q86UX2 VAR_042848 p.Asn207His Polymorphism rs36056263 - ITIH5 Q86UX2 VAR_042849 p.Thr570Pro Polymorphism rs2275069 - ITIH5 Q86UX2 VAR_042850 p.Arg629Cys Polymorphism rs34213756 - ITIH5 Q86UX2 VAR_055973 p.Asn421His Polymorphism rs36056263 - ITIH5 Q86UX2 VAR_055974 p.Phe925Ser Polymorphism rs10795551 - ITIH5 Q86UX2 VAR_061276 p.Val496Met Polymorphism rs35892621 - ITIH6 Q6UXX5 VAR_032042 p.Gly387Arg Polymorphism rs34188213 - ITIH6 Q6UXX5 VAR_032043 p.Arg561Cys Polymorphism rs34004499 - ITIH6 Q6UXX5 VAR_032044 p.Trp1041Ser Polymorphism rs17316491 - ITIH6 Q6UXX5 VAR_032045 p.Gly1170Ala Polymorphism rs35355718 - ITK Q08881 VAR_041710 p.Arg19Lys Unclassified - A metastatic melanoma sample ITK Q08881 VAR_041711 p.Pro23Leu Unclassified - A metastatic melanoma sample ITK Q08881 VAR_041712 p.Arg451Gln Unclassified - A gastric adenocarcinoma sample ITK Q08881 VAR_041713 p.Arg581Trp Polymorphism rs34482255 - ITK Q08881 VAR_041714 p.Val587Ile Polymorphism rs56005928 - ITK Q08881 VAR_051696 p.Arg193Gln Polymorphism rs17054374 - ITK Q08881 VAR_063424 p.Arg335Trp Disease rs121908191 Lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1) [MIM:613011] ITLN1 Q8WWA0 VAR_019924 p.Val109Asp Polymorphism rs2274907 - ITLN1 Q8WWA0 VAR_019925 p.Arg313Pro Polymorphism rs8144 - ITLN2 Q8WWU7 VAR_019926 p.Arg103His Polymorphism rs6680969 - ITLN2 Q8WWU7 VAR_049076 p.Gln171Arg Polymorphism rs12090411 - ITM2A O43736 VAR_034029 p.Ala72Val Polymorphism rs35056863 - ITM2A O43736 VAR_034030 p.Arg230Thr Polymorphism rs35629312 - ITM2C Q9NQX7 VAR_022111 p.Gly53Ser Polymorphism rs2289235 - ITPA Q9BY32 VAR_015576 p.Pro32Thr Disease rs1127354 Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850] ITPKB P27987 VAR_022380 p.Pro552Gln Polymorphism rs708776 - ITPKB P27987 VAR_023768 p.Ser408Ala Polymorphism rs6667260 - ITPKB P27987 VAR_053444 p.Ala322Thr Polymorphism rs3754413 - ITPR1 Q14643 VAR_037005 p.Met769Val Polymorphism rs35789999 - ITPR1 Q14643 VAR_037006 p.Ile1430Val Polymorphism rs3749383 - ITPR2 Q14571 VAR_055963 p.Ala453Val Polymorphism rs41453348 - ITPR2 Q14571 VAR_055964 p.Glu1143Asp Polymorphism rs16931091 - ITPR2 Q14571 VAR_055965 p.Ala1898Val Polymorphism rs2230382 - ITPR3 Q14573 VAR_046978 p.Arg667Gln Polymorphism rs11963294 - ITPR3 Q14573 VAR_046979 p.Asp742Glu Polymorphism rs2229633 - ITPR3 Q14573 VAR_046980 p.Gly1029Val Polymorphism rs2296333 - ITPR3 Q14573 VAR_046981 p.Leu1552Val Polymorphism rs9461899 - ITPR3 Q14573 VAR_046982 p.Arg1850Gln Polymorphism rs12528378 - ITPR3 Q14573 VAR_046983 p.Glu2398Gln Polymorphism rs2229641 - ITPR3 Q14573 VAR_046984 p.Leu2436Val Polymorphism rs2229642 - ITPR3 Q14573 VAR_049604 p.Leu374Trp Polymorphism rs2229646 - ITPRIPL1 Q6GPH6 VAR_039209 p.Gly280Arg Polymorphism rs17853311 - ITPRIPL1 Q6GPH6 VAR_039210 p.Ser428Cys Polymorphism rs35855657 - ITPRIPL1 Q6GPH6 VAR_039211 p.Thr463Met Polymorphism rs2279105 - ITPRIPL2 Q3MIP1 VAR_043549 p.Cys237Ser Polymorphism rs8051801 - ITPRIPL2 Q3MIP1 VAR_043550 p.Pro522Ser Polymorphism rs11074362 - ITSN2 Q9NZM3 VAR_020193 p.Ile1287Thr Polymorphism rs3731625 - ITSN2 Q9NZM3 VAR_021937 p.Ala1534Thr Polymorphism rs2303291 - ITSN2 Q9NZM3 VAR_024287 p.Thr254Ala Polymorphism rs6744320 - ITSN2 Q9NZM3 VAR_024288 p.Val291Ile Polymorphism rs7603997 - IVD P26440 VAR_000423 p.Leu42Pro Disease - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_000424 p.Gly199Val Disease - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015960 p.Arg50Pro Disease - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015961 p.Asp69Asn Disease - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015962 p.Ala311Val Disease - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015963 p.Cys357Arg Disease - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015964 p.Val371Ala Disease - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015965 p.Arg392Cys Disease - Isovaleric acidemia (IVA) [MIM:243500] IVD P26440 VAR_015966 p.Arg411Leu Disease - Isovaleric acidemia (IVA) [MIM:243500] IVL P07476 VAR_029019 p.Thr113Ala Polymorphism rs2229496 - IVL P07476 VAR_029020 p.Leu166Pro Polymorphism rs11205133 - IVL P07476 VAR_029021 p.Lys174Glu Polymorphism rs12035307 - IVL P07476 VAR_029022 p.Gln237Glu Polymorphism rs7520711 - IVL P07476 VAR_029023 p.Gln312Lys Polymorphism rs11205137 - IVL P07476 VAR_029024 p.Val480Leu Polymorphism rs7545520 - IVL P07476 VAR_058411 p.Glu227Gln Polymorphism rs11807064 - IVL P07476 VAR_058412 p.Pro236Ser Polymorphism rs17855670 - IWS1 Q96ST2 VAR_055975 p.Ala390Val Polymorphism rs34377117 - IWS1 Q96ST2 VAR_055976 p.Val425Ile Polymorphism rs34785867 - IYD Q6PHW0 VAR_025785 p.Leu260Pro Polymorphism rs17854906 - IYD Q6PHW0 VAR_045963 p.Arg101Trp Disease - Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] IYD Q6PHW0 VAR_045965 p.Ile116Thr Disease - Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] IYD Q6PHW0 VAR_045966 p.Glu271Lys Polymorphism rs36063028 - IZUMO1 Q8IYV9 VAR_055399 p.Ala333Val Polymorphism rs2307019 - IZUMO2 Q6UXV1 VAR_050912 p.Arg139Cys Polymorphism rs3745498 - IZUMO4 Q1ZYL8 VAR_030683 p.Ala2Thr Polymorphism rs17851210 - IZUMO4 Q1ZYL8 VAR_050911 p.Phe38Leu Polymorphism rs35585208 - IZUMO4 Q1ZYL8 VAR_061630 p.Tyr137Phe Polymorphism rs45506200 - JAG1 P78504 VAR_013186 p.Leu37Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013187 p.Leu79His Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013188 p.Ala127Thr Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013189 p.Pro129Arg Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013190 p.Ile152Thr Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013191 p.Pro163Leu Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013192 p.Arg184Cys Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013193 p.Arg184Gly Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013194 p.Arg184His Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013195 p.Arg184Leu Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013196 p.Cys187Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013197 p.Cys220Phe Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013198 p.Cys229Gly Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013199 p.Cys229Tyr Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013200 p.Gly274Asp Disease rs28939668 Tetralogy of Fallot (TOF) [MIM:187500] JAG1 P78504 VAR_013201 p.Cys284Phe Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013202 p.Trp288Cys Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013203 p.Gly386Arg Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013204 p.Cys438Phe Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013205 p.Cys731Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013206 p.Cys740Arg Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_013207 p.Cys753Arg Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026297 p.Ala31Val Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026298 p.Gly33Asp Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026299 p.Gly33Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026300 p.Gly33Val Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026301 p.Ile39Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026302 p.Leu40Pro Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026303 p.Val45Leu Unclassified - - JAG1 P78504 VAR_026304 p.Asn53Asp Unclassified - - JAG1 P78504 VAR_026305 p.Lys65Met Unclassified - - JAG1 P78504 VAR_026306 p.Phe75Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026307 p.Cys78Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026308 p.Cys92Arg Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026309 p.Cys92Tyr Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026310 p.Ile120Asn Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026311 p.Pro123Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026312 p.Ala155Pro Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026313 p.Pro163Arg Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026314 p.Tyr181Asn Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026315 p.Cys187Tyr Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026316 p.Arg203Lys Unclassified - - JAG1 P78504 VAR_026317 p.Trp224Cys Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026318 p.Cys234Tyr Unclassified - - JAG1 P78504 VAR_026319 p.Arg252Gly Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026320 p.Gly256Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026321 p.Pro269Leu Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026322 p.Cys271Arg Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026323 p.Asn504Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026324 p.Tyr690Asp Unclassified - - JAG1 P78504 VAR_026325 p.Cys693Tyr Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026326 p.Cys714Tyr Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026327 p.Arg818Lys Polymorphism - - JAG1 P78504 VAR_026328 p.Pro871Arg Polymorphism rs35761929 - JAG1 P78504 VAR_026329 p.Arg889Gln Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026330 p.Cys902Ser Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026331 p.His908Gln Unclassified - - JAG1 P78504 VAR_026332 p.Cys911Tyr Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026333 p.Ser913Arg Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026334 p.Leu921Pro Unclassified - - JAG1 P78504 VAR_026335 p.Arg937Gln Disease - Alagille syndrome type 1 (ALGS1) [MIM:118450] JAG1 P78504 VAR_026337 p.Arg1213Gln Unclassified - - JAG1 P78504 VAR_048985 p.Val146Ile Polymorphism rs6040067 - JAG2 Q9Y219 VAR_028113 p.Glu501Lys Polymorphism rs1057744 - JAG2 Q9Y219 VAR_048986 p.Asp538Asn Polymorphism rs9972231 - JAK1 P23458 VAR_041715 p.Asn973Lys Polymorphism rs34680086 - JAK2 O60674 VAR_032695 p.Lys539Leu Unclassified - - JAK2 O60674 VAR_032696 p.Lys607Asn Disease - Acute myelogenous leukemia (AML) [MIM:601626] JAK2 O60674 VAR_032697 p.Val617Phe Disease - Acute myelogenous leukemia (AML) [MIM:601626] JAK2 O60674 VAR_032697 p.Val617Phe Disease - Polycythemia vera (PV) [MIM:263300] JAK2 O60674 VAR_032697 p.Val617Phe Disease - Thrombocythemia type 3 (THCYT3) [MIM:614521] JAK2 O60674 VAR_041716 p.Gly127Asp Polymorphism rs56118985 - JAK2 O60674 VAR_041717 p.Lys191Gln Unclassified - An ovarian serous carcinoma sample JAK2 O60674 VAR_041718 p.Lys346Arg Polymorphism rs55667734 - JAK2 O60674 VAR_041719 p.Ala377Glu Polymorphism rs55953208 - JAK2 O60674 VAR_041720 p.Leu393Val Polymorphism rs2230723 - JAK2 O60674 VAR_041721 p.Arg1063His Polymorphism rs41316003 - JAK2 O60674 VAR_043129 p.Asp584Glu Polymorphism rs17490221 - JAK3 P52333 VAR_006284 p.Tyr100Cys Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010492 p.Pro151Arg Disease rs55778349 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010493 p.Glu481Gly Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010494 p.Arg582Trp Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010496 p.Val722Ile Polymorphism rs3213409 - JAK3 P52333 VAR_010497 p.Cys759Arg Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_010498 p.Leu910Ser Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_019336 p.Pro132Thr Polymorphism rs3212723 - JAK3 P52333 VAR_019338 p.Asp169Glu Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_019339 p.Gly589Ser Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] JAK3 P52333 VAR_041722 p.Pro12Leu Polymorphism rs56061056 - JAK3 P52333 VAR_041723 p.Arg40His Polymorphism rs56384680 - JAK3 P52333 VAR_041724 p.Leu521Val Polymorphism rs55666418 - JAK3 P52333 VAR_041725 p.Leu527Pro Unclassified - A gastric adenocarcinoma sample JAK3 P52333 VAR_041726 p.Ile688Phe Polymorphism rs35785705 - JAKMIP1 Q96N16 VAR_039471 p.Lys251Arg Polymorphism - - JAKMIP1 Q96N16 VAR_039472 p.Ala375Val Unclassified - A colorectal cancer sample JAKMIP2 Q96AA8 VAR_022059 p.Val106Ile Polymorphism rs3749736 - JAKMIP2 Q96AA8 VAR_035930 p.Arg315Cys Unclassified - A colorectal cancer sample JAKMIP3 Q5VZ66 VAR_039473 p.Arg795Gly Unclassified - A breast cancer sample JAKMIP3 Q5VZ66 VAR_054016 p.Met493Val Polymorphism rs11592585 - JAM2 P57087 VAR_049973 p.Ser286Arg Polymorphism rs9976382 - JDP2 Q8WYK2 VAR_042738 p.Thr13Ala Polymorphism rs3625 - JHDM1D Q6ZMT4 VAR_049652 p.Asp392Tyr Polymorphism rs5020212 - JHDM1D Q6ZMT4 VAR_049653 p.Arg644Ser Polymorphism rs6950119 - JMJD1C Q15652 VAR_049654 p.Ala272Thr Polymorphism rs34798625 - JMJD1C Q15652 VAR_049655 p.Glu394Asp Polymorphism rs35380596 - JMJD1C Q15652 VAR_049656 p.Ser464Thr Polymorphism rs10761725 - JMJD1C Q15652 VAR_049657 p.Asn1393Tyr Polymorphism rs9703886 - JMJD1C Q15652 VAR_049658 p.Asp2400Glu Polymorphism rs34491125 - JMJD1C Q15652 VAR_049659 p.Glu2535Asp Polymorphism rs1935 - JMJD1C Q15652 VAR_061277 p.Met591Val Polymorphism rs41274072 - JMJD4 Q9H9V9 VAR_032898 p.Ala11Val Polymorphism rs7419238 - JMJD4 Q9H9V9 VAR_032899 p.Gly16Cys Polymorphism rs34560898 - JMJD4 Q9H9V9 VAR_032900 p.Asp65Glu Polymorphism rs2295994 - JMJD4 Q9H9V9 VAR_032901 p.Ala461Val Polymorphism rs3087908 - JMJD7 P0C870 VAR_027046 p.Ala28Gly Polymorphism rs7174710 - JMY Q8N9B5 VAR_039846 p.Met364Leu Polymorphism rs13182512 - JMY Q8N9B5 VAR_039847 p.Ala592Val Polymorphism rs12109475 - JMY Q8N9B5 VAR_039848 p.His720Arg Polymorphism rs16876657 - JOSD1 Q15040 VAR_050031 p.Ser48Arg Polymorphism rs6001200 - JPH1 Q9HDC5 VAR_053445 p.Thr507Met Polymorphism rs16938829 - JPH1 Q9HDC5 VAR_053446 p.Asp624His Polymorphism rs16938828 - JPH2 Q9BR39 VAR_053447 p.Ala396Thr Polymorphism rs3810510 - JPH2 Q9BR39 VAR_065471 p.Ser101Arg Disease - Familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873] JPH2 Q9BR39 VAR_065472 p.Tyr141His Disease - Familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873] JPH2 Q9BR39 VAR_065473 p.Ser165Phe Disease - Familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873] JPH2 Q9BR39 VAR_065474 p.Arg436Cys Polymorphism - - JPH2 Q9BR39 VAR_065475 p.Gly505Ser Unclassified - - JPH3 Q8WXH2 VAR_032494 p.Ile376Thr Polymorphism rs17857118 - JPH3 Q8WXH2 VAR_032495 p.Pro472Thr Polymorphism rs17853660 - JPH3 Q8WXH2 VAR_032496 p.Pro645Leu Polymorphism rs17853661 - JSRP1 Q96MG2 VAR_037838 p.Val92Ala Polymorphism rs10426549 - JSRP1 Q96MG2 VAR_037839 p.Arg233Gln Polymorphism rs35356610 - JTB O76095 VAR_033994 p.Leu16Phe Polymorphism rs34686244 - JUNB P17275 VAR_021081 p.Leu230Val Polymorphism rs17880705 - JUND P17535 VAR_055247 p.Gly20Val Polymorphism rs41478151 - JUN P05412 VAR_012070 p.Thr297Met Polymorphism rs9989 - JUP P14923 VAR_037804 p.Met697Leu Polymorphism rs1126821 - JUP P14923 VAR_065698 p.Thr19Ile Disease - Familial arrhythmogenic right ventricular dysplasia type 12 (ARVD12) [MIM:611528] JUP P14923 VAR_065699 p.Arg142His Polymorphism - - JUP P14923 VAR_065700 p.Val648Ile Polymorphism - - KAL1 P23352 VAR_007720 p.Asn267Lys Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_007721 p.Val534Ile Polymorphism rs808119 - KAL1 P23352 VAR_012742 p.Glu514Lys Disease rs28937309 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_031012 p.Cys163Tyr Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_031013 p.Cys172Arg Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_031014 p.Arg262Pro Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_031015 p.Asn304Ser Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_031016 p.Ser396Leu Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_031017 p.Phe517Leu Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_031018 p.Trp571Arg Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_031019 p.Lys666Met Polymorphism - - KAL1 P23352 VAR_031020 p.Arg668His Polymorphism - - KAL1 P23352 VAR_065362 p.Cys134Gly Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_065363 p.Cys163Arg Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KAL1 P23352 VAR_065364 p.Glu539Lys Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] KALRN O60229 VAR_020192 p.Glu1326Asp Polymorphism rs2289838 - KALRN O60229 VAR_035625 p.Ser1896Cys Unclassified - A breast cancer sample KALRN O60229 VAR_035976 p.Arg213Trp Unclassified - A colorectal cancer sample KALRN O60229 VAR_041898 p.Ser196Leu Polymorphism - - KALRN O60229 VAR_057190 p.Arg1929Met Polymorphism rs35298864 - KANK1 Q14678 VAR_016697 p.Ser464Ala Polymorphism rs912174 - KANK1 Q14678 VAR_026212 p.Asn206Lys Polymorphism rs17857145 - KANK1 Q14678 VAR_026213 p.Glu432Gln Polymorphism rs4465020 - KANK1 Q14678 VAR_048298 p.His210Gln Polymorphism rs28374506 - KANK1 Q14678 VAR_048299 p.Lys321Arg Polymorphism rs17857159 - KANK1 Q14678 VAR_048300 p.Ala664Val Polymorphism rs3824421 - KANK1 Q14678 VAR_048301 p.Arg667His Polymorphism rs3824420 - KANK1 Q14678 VAR_048302 p.Asn901Ser Polymorphism rs12352313 - KANK1 Q14678 VAR_048303 p.Ile1055Thr Polymorphism rs34832656 - KANK2 Q63ZY3 VAR_048304 p.Gly118Ser Polymorphism rs755237 - KANK2 Q63ZY3 VAR_048305 p.Met401Thr Polymorphism rs17616661 - KANK3 Q6NY19 VAR_026909 p.Asp288Tyr Polymorphism rs890850 - KANK3 Q6NY19 VAR_026910 p.Arg359His Polymorphism rs890853 - KANK3 Q6NY19 VAR_026911 p.Ala485Thr Polymorphism rs2913955 - KANK4 Q5T7N3 VAR_026902 p.His822Arg Polymorphism rs2258470 - KANK4 Q5T7N3 VAR_026903 p.Val840Ala Polymorphism rs2666472 - KANK4 Q5T7N3 VAR_026904 p.Val935Leu Polymorphism rs2941679 - KANK4 Q5T7N3 VAR_048306 p.Gly701Ser Polymorphism rs17123306 - KANK4 Q5T7N3 VAR_048307 p.Thr768Ala Polymorphism rs11207949 - KANK4 Q5T7N3 VAR_048308 p.Ala987Val Polymorphism rs34591898 - KANSL1 Q7Z3B3 VAR_026287 p.Pro1010Leu Polymorphism rs7220988 - KANSL1 Q7Z3B3 VAR_049515 p.Lys104Thr Polymorphism rs17585974 - KANSL1 Q7Z3B3 VAR_049516 p.Thr221Ile Polymorphism rs17662853 - KANSL1 Q7Z3B3 VAR_049517 p.Asn225Asp Polymorphism rs35643216 - KANSL1 Q7Z3B3 VAR_049518 p.Ser718Pro Polymorphism rs34043286 - KANSL1 Q7Z3B3 VAR_049519 p.Ile1085Thr Polymorphism rs34579536 - KANSL2 Q9H9L4 VAR_030767 p.Asn313Ser Polymorphism rs17238800 - KANSL2 Q9H9L4 VAR_030768 p.Pro445Thr Polymorphism rs3741628 - KANSL3 Q9P2N6 VAR_032268 p.Val707Ile Polymorphism rs34406082 - KARS Q15046 VAR_016105 p.Thr595Ser Polymorphism rs6834 - KARS Q15046 VAR_052640 p.Gly179Ala Polymorphism rs11557665 - KARS Q15046 VAR_064911 p.Leu105His Disease - Charcot-Marie-Tooth disease recessive intermediate type B (CMTRIB) [MIM:613641] KARS Q15046 VAR_064912 p.Ile274Met Disease - Charcot-Marie-Tooth disease recessive intermediate type B (CMTRIB) [MIM:613641] KAT2B Q92831 VAR_034372 p.Asn386Ser Polymorphism rs17006625 - KAT5 Q92993 VAR_059456 p.Pro78Thr Polymorphism rs11541271 - KAT6A Q92794 VAR_047548 p.Leu134Ser Polymorphism rs3824276 - KAT6B Q8WYB5 VAR_036361 p.Thr483Ala Unclassified - A breast cancer sample KAT6B Q8WYB5 VAR_050217 p.Val1499Ile Polymorphism rs3740321 - KAT6B Q8WYB5 VAR_061367 p.Ala1217Ser Polymorphism rs57372986 - KATNAL2 Q8IYT4 VAR_043160 p.Ser160Asn Polymorphism rs7233515 - KATNB1 Q9BVA0 VAR_062099 p.Met181Val Polymorphism rs60158050 - KAZALD1 Q96I82 VAR_022739 p.Cys76Gly Polymorphism rs11547671 - KAZALD1 Q96I82 VAR_033628 p.Gly236Asp Polymorphism rs11190812 - KAZALD1 Q96I82 VAR_033629 p.Gly255Ala Polymorphism rs807037 - KAZALD1 Q96I82 VAR_049977 p.Arg256His Polymorphism rs36116329 - KAZN Q674X7 VAR_060168 p.Ala706Thr Polymorphism rs10803354 - KAZN Q674X7 VAR_060169 p.Arg763Cys Polymorphism rs12048768 - KBTBD12 Q3ZCT8 VAR_050055 p.Gln22Lys Polymorphism rs4141499 - KBTBD13 C9JR72 VAR_064889 p.Arg248Ser Disease - Nemaline myopathy type 6 (NEM6) [MIM:609273] KBTBD13 C9JR72 VAR_064890 p.Lys390Asn Disease - Nemaline myopathy type 6 (NEM6) [MIM:609273] KBTBD13 C9JR72 VAR_064891 p.Arg408Cys Disease - Nemaline myopathy type 6 (NEM6) [MIM:609273] KBTBD2 Q8IY47 VAR_037766 p.Gln166Lys Polymorphism rs17853781 - KBTBD2 Q8IY47 VAR_037767 p.Glu189Gly Polymorphism rs17854425 - KBTBD2 Q8IY47 VAR_037768 p.Thr193Pro Polymorphism rs35477666 - KBTBD2 Q8IY47 VAR_037769 p.Pro254Arg Polymorphism rs17857323 - KBTBD2 Q8IY47 VAR_037770 p.Pro301Arg Polymorphism rs17857324 - KBTBD2 Q8IY47 VAR_037771 p.Leu534Ile Polymorphism rs17854424 - KBTBD2 Q8IY47 VAR_037772 p.Ser594Tyr Polymorphism rs17853783 - KBTBD3 Q8NAB2 VAR_056124 p.Met189Val Polymorphism rs35762821 - KBTBD4 Q9NVX7 VAR_028046 p.Asp330Asn Polymorphism rs11039302 - KBTBD8 Q8NFY9 VAR_030694 p.Cys420Arg Polymorphism rs13096789 - KBTBD8 Q8NFY9 VAR_036082 p.Ser198Cys Unclassified - A breast cancer sample KBTBD8 Q8NFY9 VAR_036083 p.Arg405Lys Unclassified - A breast cancer sample KCNA10 Q16322 VAR_036778 p.Arg200His Unclassified - A colorectal cancer sample KCNA10 Q16322 VAR_036779 p.Val220Met Polymorphism rs34970857 - KCNA10 Q16322 VAR_036780 p.Ser258Asn Polymorphism rs3748729 - KCNA1 Q09470 VAR_001508 p.Val174Phe Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001509 p.Ile177Arg Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001510 p.Thr226Ala Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001511 p.Arg239Ser Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001512 p.Phe249Ile Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001513 p.Val404Ile Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_001514 p.Val408Ala Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_016805 p.Ile400Val Unclassified - - KCNA1 Q09470 VAR_020051 p.Arg204His Polymorphism rs2229000 - KCNA1 Q09470 VAR_020830 p.Phe184Cys Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_020831 p.Thr226Met Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_020832 p.Glu325Asp Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_020833 p.Leu329Ile Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_020834 p.Ser342Ile Disease - Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_037100 p.Thr226Lys Disease rs28933383 Myokymia isolated type 1 (MK1) [MIM:160120] KCNA1 Q09470 VAR_037101 p.Thr226Arg Disease rs28933383 Episodic ataxia type 1 (EA1) [MIM:160120] KCNA1 Q09470 VAR_037102 p.Ala242Pro Disease rs28933381 Myokymia isolated type 1 (MK1) [MIM:160120] KCNA1 Q09470 VAR_037103 p.Pro244His Disease rs28933382 Myokymia isolated type 1 (MK1) [MIM:160120] KCNA5 P22460 VAR_035770 p.Gly300Ser Unclassified - A breast cancer sample KCNA5 P22460 VAR_053856 p.Pro228Ser Polymorphism rs1056464 - KCNA5 P22460 VAR_054786 p.Arg578Lys Polymorphism rs12720445 - KCNA7 Q96RP8 VAR_036776 p.Pro189Arg Polymorphism rs1611775 - KCNA7 Q96RP8 VAR_036777 p.Met418Thr Polymorphism rs1017219 - KCNAB2 Q13303 VAR_048747 p.Glu88Lys Polymorphism rs2229003 - KCNB1 Q14721 VAR_034049 p.Pro825Ser Polymorphism rs34467662 - KCNB1 Q14721 VAR_062182 p.Thr616Asn Polymorphism rs2229006 - KCNB1 Q14721 VAR_062183 p.Thr616Ser Polymorphism rs2229006 - KCNB1 Q14721 VAR_062184 p.Ser857Asn Polymorphism rs34280195 - KCNB2 Q92953 VAR_034050 p.Glu657Gly Polymorphism rs16938507 - KCNB2 Q92953 VAR_035774 p.Val450Ile Unclassified - A colorectal cancer sample KCNC3 Q14003 VAR_029530 p.Arg420His Disease - Spinocerebellar ataxia type 13 (SCA13) [MIM:605259] KCNC3 Q14003 VAR_029531 p.Phe448Leu Disease - Spinocerebellar ataxia type 13 (SCA13) [MIM:605259] KCNC4 Q03721 VAR_027505 p.Cys520Tyr Polymorphism rs12411176 - KCNC4 Q03721 VAR_034051 p.Asp318Tyr Polymorphism rs35167146 - KCNC4 Q03721 VAR_062185 p.Arg516Gln Polymorphism rs59123361 - KCND3 Q9UK17 VAR_035775 p.Val94Met Unclassified - A colorectal cancer sample KCNE1L Q9UJ90 VAR_034048 p.Glu114Gln Polymorphism rs41312935 - KCNE1L Q9UJ90 VAR_053037 p.Pro33Ser Polymorphism rs17003955 - KCNE1 P15382 VAR_001558 p.Ser38Gly Polymorphism rs17846179 - KCNE1 P15382 VAR_008897 p.Thr7Ile Disease rs28933384 Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347] KCNE1 P15382 VAR_008898 p.Val47Phe Disease - Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347] KCNE1 P15382 VAR_008899 p.Leu51His Disease - Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347] KCNE1 P15382 VAR_008900 p.Ser74Leu Disease - Long QT syndrome type 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_008901 p.Asp76Asn Disease - Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347] KCNE1 P15382 VAR_008901 p.Asp76Asn Disease - Long QT syndrome type 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_008902 p.Asp85Asn Polymorphism rs1805128 - KCNE1 P15382 VAR_008903 p.Trp87Arg Disease - Long QT syndrome type 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_009906 p.Arg32His Unclassified rs17857111 - KCNE1 P15382 VAR_009907 p.Arg98Trp Disease - Long QT syndrome type 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_009908 p.Pro127Thr Disease - Long QT syndrome type 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_012802 p.Val109Ile Disease - Long QT syndrome type 5 (LQT5) [MIM:613695] KCNE1 P15382 VAR_048024 p.Gly52Ala Polymorphism rs17173509 - KCNE2 Q9Y6J6 VAR_008375 p.Thr8Ala Polymorphism rs2234916 - KCNE2 Q9Y6J6 VAR_008376 p.Gln9Glu Disease rs16991652 Long QT syndrome type 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_008377 p.Met54Thr Disease - Long QT syndrome type 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_008378 p.Ile57Thr Disease - Long QT syndrome type 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_015063 p.Val65Met Disease - Long QT syndrome type 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_022052 p.Ala66Val Polymorphism rs16991656 - KCNE2 Q9Y6J6 VAR_029334 p.Phe60Leu Disease rs16991654 Long QT syndrome type 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_035386 p.Arg77Trp Disease - Long QT syndrome type 6 (LQT6) [MIM:613693] KCNE2 Q9Y6J6 VAR_037794 p.Thr8Ile Polymorphism rs35759083 - KCNE2 Q9Y6J6 VAR_037795 p.Arg27Cys Disease - Familial atrial fibrillation type 4 (ATFB4) [MIM:611493] KCNE3 Q9Y6H6 VAR_015064 p.Arg83His Unclassified rs17215437 - KCNE3 Q9Y6H6 VAR_058635 p.Thr4Ala Polymorphism - - KCNE3 Q9Y6H6 VAR_058636 p.Pro39Arg Polymorphism rs34604640 - KCNE3 Q9Y6H6 VAR_058637 p.Arg99His Disease - Brugada syndrome type 6 (BRGDA6) [MIM:613119] KCNE4 Q8WWG9 VAR_024411 p.Asp145Glu Polymorphism rs12621643 - KCNE4 Q8WWG9 VAR_030620 p.Gly47Ser Polymorphism rs13409084 - KCNG1 Q9UIX4 VAR_053860 p.Ile304Met Polymorphism rs17791052 - KCNG4 Q8TDN1 VAR_053861 p.Gly8Trp Polymorphism rs35379218 - KCNG4 Q8TDN1 VAR_053862 p.Arg206Trp Polymorphism rs11646443 - KCNG4 Q8TDN1 VAR_053863 p.Cys255Tyr Polymorphism rs17736370 - KCNG4 Q8TDN1 VAR_053864 p.Glu321Lys Polymorphism rs4782905 - KCNG4 Q8TDN1 VAR_053865 p.Gly325Arg Polymorphism rs7196482 - KCNG4 Q8TDN1 VAR_053866 p.Arg427His Polymorphism rs35649980 - KCNH2 Q12809 VAR_008578 p.Asn470Asp Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008579 p.Arg534Cys Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008580 p.Ala561Val Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008581 p.Arg582Cys Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008582 p.Ile593Arg Disease rs28928904 Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008583 p.Gly628Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008584 p.Val822Met Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008907 p.Phe29Leu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008908 p.Asn33Thr Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008909 p.Gly53Arg Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008910 p.Arg56Gln Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008911 p.Cys66Gly Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008912 p.His70Arg Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008913 p.Ala78Pro Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008914 p.Leu86Arg Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008915 p.Arg176Trp Disease rs36210422 Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008916 p.Thr436Met Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008917 p.Thr474Ile Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008918 p.Leu552Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008919 p.Ala558Pro Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008920 p.Leu564Pro Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008921 p.Tyr569His Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008922 p.Gly572Arg Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008923 p.Gly572Cys Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008924 p.Gly584Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008925 p.Asn588Asp Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008926 p.Gly601Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008927 p.Gly604Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008928 p.Tyr611His Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008929 p.Val612Leu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008930 p.Thr613Met Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008931 p.Ala614Val Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008932 p.Asn629Asp Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008933 p.Asn629Lys Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008934 p.Val630Leu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008935 p.Val630Ala Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008936 p.Asn633Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008937 p.Phe640Leu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_008938 p.Ser818Leu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009179 p.Asn629Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009909 p.Gly47Val Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009910 p.Pro72Gln Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009911 p.Arg312Cys Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009912 p.Pro347Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009913 p.Arg531Gln Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009914 p.Trp585Cys Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009915 p.Ile593Thr Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_009916 p.Asp609Asn Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014371 p.Thr65Pro Disease rs28933095 Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014373 p.Pro451Leu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014374 p.Ala561Thr Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014375 p.Leu615Val Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014376 p.Gly626Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014377 p.Phe627Leu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014378 p.Pro632Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014379 p.Glu637Lys Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014380 p.Lys638Glu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014382 p.Met645Leu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014383 p.Arg752Trp Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014384 p.Phe805Cys Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014385 p.Phe805Ser Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014386 p.Arg823Trp Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014387 p.Asn861Ile Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014388 p.Lys897Thr Polymorphism rs1805123 - KCNH2 Q12809 VAR_014389 p.Pro917Leu Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_014390 p.Arg922Trp Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_023840 p.Asn588Lys Disease - Short QT syndrome type 1 (SQT1) [MIM:609620] KCNH2 Q12809 VAR_036669 p.Arg100Gly Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_036670 p.Arg181Gln Polymorphism rs41308954 - KCNH2 Q12809 VAR_036671 p.Ala490Thr Polymorphism rs28928905 - KCNH2 Q12809 VAR_036672 p.Lys525Asn Polymorphism - - KCNH2 Q12809 VAR_036673 p.Arg528Pro Polymorphism - - KCNH2 Q12809 VAR_036674 p.Arg696Cys Unclassified - - KCNH2 Q12809 VAR_036675 p.Arg752Gln Disease - Long QT syndrome type 2 (LQT2) [MIM:613688] KCNH2 Q12809 VAR_036676 p.Arg784Trp Unclassified - - KCNH2 Q12809 VAR_036677 p.Arg948Cys Unclassified - - KCNH2 Q12809 VAR_036678 p.Pro1016Ser Polymorphism rs41307280 - KCNH2 Q12809 VAR_036679 p.Pro1016Leu Polymorphism rs41313074 - KCNH2 Q12809 VAR_036680 p.Pro1020Ser Polymorphism rs41307274 - KCNH2 Q12809 VAR_036681 p.Pro1026Leu Polymorphism rs41307271 - KCNH2 Q12809 VAR_036682 p.Arg1055Gln Polymorphism rs41307270 - KCNH4 Q9UQ05 VAR_035771 p.Gly797Arg Unclassified - A colorectal cancer sample KCNH5 Q8NCM2 VAR_065162 p.Ala745Thr Polymorphism rs4902176 - KCNH6 Q9H252 VAR_053857 p.Gly165Arg Polymorphism rs35399062 - KCNH6 Q9H252 VAR_053858 p.Thr925Met Polymorphism rs35819807 - KCNH7 Q9NS40 VAR_057767 p.Gly958Ala Polymorphism rs6757850 - KCNH8 Q96L42 VAR_055098 p.Gln893Arg Polymorphism rs33915638 - KCNH8 Q96L42 VAR_055099 p.Glu984Gln Polymorphism rs35160416 - KCNIP3 Q9Y2W7 VAR_035463 p.Ala170Ser Unclassified - A breast cancer sample KCNIP3 Q9Y2W7 VAR_035464 p.Asp179Tyr Unclassified - A breast cancer sample KCNIP3 Q9Y2W7 VAR_048663 p.Ala119Val Polymorphism rs35658670 - KCNJ10 P78508 VAR_020339 p.Arg271His Polymorphism rs3795339 - KCNJ10 P78508 VAR_034018 p.Arg271Cys Polymorphism rs1130183 - KCNJ10 P78508 VAR_063059 p.Arg65Pro Disease - Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063060 p.Gly77Arg Disease - Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063061 p.Cys140Arg Disease - Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063062 p.Thr164Ile Disease - Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063063 p.Ala167Val Disease - Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ10 P78508 VAR_063064 p.Arg297Cys Disease - Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] KCNJ11 Q14654 VAR_001557 p.Leu147Pro Disease rs28936678 Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_008659 p.Glu10Lys Polymorphism - - KCNJ11 Q14654 VAR_008660 p.Glu23Lys Polymorphism rs5219 - KCNJ11 Q14654 VAR_008661 p.Leu270Val Polymorphism rs1800467 - KCNJ11 Q14654 VAR_008662 p.Ile337Val Polymorphism rs5215 - KCNJ11 Q14654 VAR_008663 p.Leu355Pro Disease - Non-insulin-dependent diabetes mellitus (NIDDM) KCNJ11 Q14654 VAR_008665 p.Ser385Cys Polymorphism rs41282930 - KCNJ11 Q14654 VAR_014929 p.Arg195His Polymorphism rs5217 - KCNJ11 Q14654 VAR_026498 p.Phe35Leu Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026499 p.Phe35Val Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026500 p.Arg50Pro Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026501 p.Gln52Arg Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026502 p.Gly53Arg Disease - Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582] KCNJ11 Q14654 VAR_026503 p.Gly53Ser Disease - Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582] KCNJ11 Q14654 VAR_026504 p.Val59Gly Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026505 p.Val59Met Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026506 p.Lys67Asn Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_026507 p.Trp91Arg Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_026508 p.Lys170Asn Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026509 p.Lys170Arg Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026510 p.Ile182Val Disease - Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582] KCNJ11 Q14654 VAR_026511 p.Arg201Cys Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026512 p.Arg201His Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026513 p.Pro254Leu Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_026514 p.Ile296Leu Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026515 p.Glu322Lys Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026516 p.Tyr330Cys Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_026517 p.Phe333Ile Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_031329 p.Arg34His Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031330 p.Gly40Asp Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031331 p.Cys42Arg Disease - Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582] KCNJ11 Q14654 VAR_031332 p.His46Tyr Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_031333 p.Arg50Gln Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_031334 p.Gly53Asp Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_031335 p.Phe55Leu Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031336 p.Ala101Asp Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031337 p.Ser116Pro Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031338 p.Gly134Ala Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031339 p.Arg136Leu Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031340 p.Ile148Ser Polymorphism - - KCNJ11 Q14654 VAR_031341 p.Leu164Pro Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_031342 p.Cys166Tyr Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_031343 p.Lys170Thr Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_031344 p.Arg201Leu Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_031345 p.His259Arg Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031346 p.Pro266Leu Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031347 p.Arg301His Disease - Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820] KCNJ11 Q14654 VAR_031348 p.Tyr330Ser Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] KCNJ11 Q14654 VAR_055978 p.Ala18Gly Polymorphism rs41309072 - KCNJ12 Q14500 VAR_024509 p.Arg6Gln Polymorphism rs3752032 - KCNJ12 Q14500 VAR_049671 p.Ser15Leu Polymorphism rs1657738 - KCNJ12 Q14500 VAR_049672 p.Pro156Leu Polymorphism rs1714864 - KCNJ12 Q14500 VAR_049673 p.Ile249Val Polymorphism rs4985866 - KCNJ12 Q14500 VAR_059365 p.Ile100Val Polymorphism rs8076599 - KCNJ12 Q14500 VAR_059366 p.Arg118Gln Polymorphism rs1657740 - KCNJ12 Q14500 VAR_059367 p.Gln192His Polymorphism rs1657742 - KCNJ12 Q14500 VAR_059368 p.Glu430Gly Polymorphism rs5021699 - KCNJ13 O60928 VAR_016193 p.Thr175Ile Polymorphism rs1801251 - KCNJ13 O60928 VAR_043509 p.Arg162Trp Disease - Snowflake vitreoretinal degeneration (SVD) [MIM:193230] KCNJ13 O60928 VAR_043510 p.Pro290Gln Polymorphism rs17853727 - KCNJ13 O60928 VAR_043511 p.Gly309Cys Polymorphism rs17857137 - KCNJ14 Q9UNX9 VAR_034019 p.Arg289Cys Polymorphism rs3745725 - KCNJ15 Q99712 VAR_019728 p.Gly98Asp Polymorphism rs2230033 - KCNJ15 Q99712 VAR_025523 p.Met30Leu Polymorphism rs3746875 - KCNJ15 Q99712 VAR_036427 p.Ala71Thr Unclassified - A breast cancer sample KCNJ16 Q9NPI9 VAR_024510 p.Ile11Val Polymorphism rs9302912 - KCNJ18 B7U540 VAR_063286 p.Thr140Met Disease - Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239] KCNJ18 B7U540 VAR_063287 p.Arg205His Disease - Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239] KCNJ18 B7U540 VAR_063288 p.Thr354Met Disease - Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239] KCNJ18 B7U540 VAR_063289 p.Lys366Arg Disease - Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239] KCNJ1 P48048 VAR_001548 p.Val72Glu Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_001549 p.Asp74Tyr Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_001550 p.Trp99Cys Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_001551 p.Asp108His Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_001552 p.Pro110Leu Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_001553 p.Val122Glu Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_001554 p.Gly167Glu Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_001555 p.Ala198Thr Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_001556 p.Val315Gly Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_019724 p.Asn124Lys Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_019725 p.Ala214Val Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_019726 p.Ser219Arg Disease - Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_019727 p.Met357Thr Disease rs59172778 Bartter syndrome type 2 (BS2) [MIM:241200] KCNJ1 P48048 VAR_036426 p.Ser115Phe Unclassified - A breast cancer sample KCNJ1 P48048 VAR_049668 p.Arg6Trp Polymorphism rs34191956 - KCNJ2 P63252 VAR_017851 p.Arg67Trp Disease - Long QT syndrome type 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017852 p.Asp71Val Disease - Long QT syndrome type 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017854 p.Pro186Leu Disease - Long QT syndrome type 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017855 p.Asn216His Disease - Long QT syndrome type 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017856 p.Arg218Trp Disease - Long QT syndrome type 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017857 p.Gly300Val Disease - Long QT syndrome type 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_017858 p.Val302Met Disease - Long QT syndrome type 7 (LQT7) [MIM:170390] KCNJ2 P63252 VAR_023842 p.Asp172Asn Disease - Short QT syndrome type 3 (SQT3) [MIM:609622] KCNJ3 P48549 VAR_049669 p.Lys40Arg Polymorphism rs16838016 - KCNJ5 P48544 VAR_063107 p.Gln282Glu Polymorphism rs7102584 - KCNJ5 P48544 VAR_063766 p.Gly387Arg Disease - Long QT syndrome type 13 (LQT13) [MIM:613485] KCNJ8 Q15842 VAR_049670 p.Val334Ala Polymorphism rs34811413 - KCNJ8 Q15842 VAR_065225 p.Ser422Leu Polymorphism rs72554071 - KCNJ9 Q92806 VAR_023568 p.Ala366Val Polymorphism rs3001040 - KCNK10 P57789 VAR_052428 p.Ala512Thr Polymorphism rs17762463 - KCNK10 P57789 VAR_060216 p.Lys70Gln Polymorphism rs398263 - KCNK13 Q9HB14 VAR_034052 p.Gly389Ala Polymorphism rs35909577 - KCNK13 Q9HB14 VAR_052429 p.Gly305Arg Polymorphism rs3814848 - KCNK15 Q9H427 VAR_014211 p.Gly95Glu Polymorphism rs1111032 - KCNK15 Q9H427 VAR_014212 p.Pro260Thr Polymorphism rs6073538 - KCNK15 Q9H427 VAR_014213 p.Pro261His Polymorphism rs13037900 - KCNK15 Q9H427 VAR_014214 p.Pro323Leu Polymorphism rs13042905 - KCNK16 Q96T55 VAR_052430 p.Pro301His Polymorphism rs11756091 - KCNK16 Q96T55 VAR_063636 p.Phe215Leu Polymorphism rs9462527 - KCNK16 Q96T55 VAR_063637 p.Ala275Gly Polymorphism rs1535500 - KCNK17 Q96T54 VAR_024683 p.Arg296Gln Polymorphism rs2758910 - KCNK17 Q96T54 VAR_032362 p.Ser21Gly Polymorphism rs10947804 - KCNK17 Q96T54 VAR_032363 p.Met253Leu Polymorphism rs35677794 - KCNK18 Q7Z418 VAR_037521 p.Phe58Tyr Polymorphism rs3909165 - KCNK18 Q7Z418 VAR_037522 p.Ala198Gly Polymorphism rs363359 - KCNK18 Q7Z418 VAR_037523 p.Ser231Pro Polymorphism rs363315 - KCNK18 Q7Z418 VAR_037524 p.Ala233Val Polymorphism rs363360 - KCNK18 Q7Z418 VAR_037525 p.Glu255Lys Polymorphism rs3026042 - KCNK18 Q7Z418 VAR_037526 p.Val346Ile Polymorphism rs12247136 - KCNK18 Q7Z418 VAR_064027 p.Ala34Val Polymorphism - - KCNK4 Q9NYG8 VAR_020206 p.Pro328Leu Polymorphism rs953778 - KCNK5 O95279 VAR_052425 p.Pro465Thr Polymorphism rs9462487 - KCNK6 Q9Y257 VAR_052426 p.Thr150Ile Polymorphism rs35762773 - KCNK6 Q9Y257 VAR_052427 p.Val259Met Polymorphism rs34989303 - KCNK6 Q9Y257 VAR_059842 p.Val240Ile Polymorphism rs35496032 - KCNK9 Q9NPC2 VAR_054373 p.Gly236Arg Disease - Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292] KCNMA1 Q12791 VAR_023821 p.Asp434Gly Disease - Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446] KCNMB1 Q16558 VAR_019325 p.Glu65Lys Polymorphism rs11739136 - KCNMB1 Q16558 VAR_047009 p.Val110Leu Polymorphism rs2301149 - KCNMB3 Q9NPA1 VAR_018173 p.Asp44Gly Polymorphism rs1170672 - KCNMB3 Q9NPA1 VAR_018174 p.Ala53Thr Polymorphism rs7645550 - KCNMB3 Q9NPA1 VAR_018175 p.Leu75Val Polymorphism rs2276802 - KCNMB3 Q9NPA1 VAR_018176 p.Asn165Ser Polymorphism - - KCNMB3 Q9NPA1 VAR_018177 p.Met230Thr Polymorphism - - KCNMB4 Q86W47 VAR_018178 p.Val199Ile Polymorphism - - KCNQ1 P51787 VAR_001516 p.Gly168Arg Disease rs179489 Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001517 p.Arg174Cys Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001518 p.Ala178Pro Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001519 p.Gly189Arg Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001520 p.Arg190Gln Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001521 p.Gly216Arg Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001522 p.Val254Met Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001523 p.Glu261Lys Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001524 p.Gly269Asp Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001525 p.Leu273Phe Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001526 p.Ala300Thr Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001527 p.Trp305Ser Disease - Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_001528 p.Gly306Arg Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001529 p.Thr309Arg Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001530 p.Thr312Ile Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001531 p.Ile313Met Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001532 p.Gly314Ser Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001533 p.Tyr315Ser Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001534 p.Asp317Asn Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001535 p.Pro320Ala Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001536 p.Gly325Arg Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001538 p.Ala341Glu Disease rs12720459 Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001539 p.Ala341Val Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001540 p.Leu342Phe Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001541 p.Ala344Val Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001542 p.Gly345Glu Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001543 p.Arg366Pro Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001544 p.Ala371Thr Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_001545 p.Arg555Cys Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008124 p.Phe157Cys Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008125 p.Tyr184Ser Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008126 p.Gly345Arg Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008127 p.Ser373Pro Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008128 p.Trp392Arg Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008939 p.Arg174His Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008940 p.Asp242Asn Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008941 p.Arg243His Disease - Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_008942 p.Trp248Arg Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008943 p.Leu250His Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008944 p.Glu261Asp Disease - Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400] KCNQ1 P51787 VAR_008945 p.Tyr281Cys Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008946 p.Tyr315Cys Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008947 p.Lys318Asn Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008948 p.Arg366Trp Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008949 p.Arg533Trp Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008950 p.Arg539Trp Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008951 p.Thr587Met Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008952 p.Gly589Asp Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008953 p.Arg591His Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_008954 p.Gly643Ser Polymorphism rs1800172 - KCNQ1 P51787 VAR_009180 p.Leu353Pro Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009181 p.Ala525Thr Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009918 p.Tyr111Cys Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009919 p.Glu160Lys Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009920 p.Ala178Thr Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009921 p.Gly179Ser Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009922 p.Ala194Pro Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009923 p.Ser225Leu Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009924 p.Leu266Pro Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009925 p.Gly269Ser Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009926 p.Val310Ile Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009927 p.Thr311Ile Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009928 p.Ser349Trp Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009929 p.Arg366Gln Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009930 p.Thr391Ile Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009931 p.Pro448Arg Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009932 p.Ser566Phe Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009933 p.Arg583Cys Disease rs17221854 Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_009934 p.Arg594Gln Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_010933 p.Arg243Cys Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_010934 p.Val417Met Disease - Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_015742 p.Ser140Gly Disease - Familial atrial fibrillation type 3 (ATFB3) [MIM:607554] KCNQ1 P51787 VAR_023841 p.Val307Leu Disease - Short QT syndrome type 2 (SQT2) [MIM:609621] KCNQ1 P51787 VAR_048025 p.Lys362Arg Disease rs12720458 Long QT syndrome type 1 (LQT1) [MIM:192500] KCNQ1 P51787 VAR_048026 p.Lys393Asn Polymorphism rs12720457 - KCNQ2 O43526 VAR_010929 p.Arg214Trp Disease rs28939684 Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_010930 p.Tyr284Cys Disease rs28939683 Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_010931 p.Ala306Thr Disease - Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_010932 p.Asn780Thr Polymorphism rs1801475 - KCNQ2 O43526 VAR_026987 p.Arg207Trp Disease - Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026988 p.Met208Val Disease - Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026989 p.His228Gln Disease - Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026990 p.Leu243Phe Disease - Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026991 p.Ser247Trp Disease - Epileptic encephalopathy early infantile type 7 (EIEE7) [MIM:613720] KCNQ2 O43526 VAR_026992 p.Arg333Gln Disease - Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026993 p.Lys554Asn Disease - Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] KCNQ2 O43526 VAR_026993 p.Lys554Asn Disease - Epileptic encephalopathy early infantile type 7 (EIEE7) [MIM:613720] KCNQ2 O43526 VAR_043819 p.Arg207Gln Unclassified - - KCNQ3 O43525 VAR_001546 p.Gly310Val Disease - Benign familial neonatal seizures type 2 (BFNS2) [MIM:121201] KCNQ3 O43525 VAR_010935 p.Trp309Arg Disease - Benign familial neonatal seizures type 2 (BFNS2) [MIM:121201] KCNQ3 O43525 VAR_026994 p.Asp305Gly Disease - Benign familial neonatal seizures type 2 (BFNS2) [MIM:121201] KCNQ3 O43525 VAR_026995 p.Asn468Ser Unclassified - - KCNQ3 O43525 VAR_053859 p.Glu414Gly Polymorphism rs2303995 - KCNQ4 P56696 VAR_001547 p.Gly285Ser Disease rs28937588 Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_008726 p.Trp276Ser Disease - Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_008727 p.Gly285Cys Disease - Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_008728 p.Gly321Ser Disease rs28939710 Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_010936 p.Leu274His Disease - Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_010937 p.Leu281Ser Disease - Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] KCNQ4 P56696 VAR_058971 p.His455Gln Polymorphism rs34287852 - KCNQ5 Q9NR82 VAR_035772 p.Trp191Gly Unclassified - A colorectal cancer sample KCNQ5 Q9NR82 VAR_035773 p.Arg244Cys Unclassified - A colorectal cancer sample KCNS1 Q96KK3 VAR_020052 p.Ile489Val Polymorphism rs734784 - KCNS1 Q96KK3 VAR_053867 p.Gln508Arg Polymorphism rs7264544 - KCNS3 Q9BQ31 VAR_014200 p.Thr450Ala Polymorphism rs4832524 - KCNS3 Q9BQ31 VAR_036986 p.Val225Leu Polymorphism rs17856097 - KCNT2 Q6UVM3 VAR_037527 p.Val33Ile Unclassified - A breast cancer sample KCNT2 Q6UVM3 VAR_037528 p.Cys413Trp Polymorphism rs12738104 - KCNT2 Q6UVM3 VAR_037529 p.Lys429Asn Polymorphism rs12742082 - KCNU1 A8MYU2 VAR_053868 p.Trp768Arg Polymorphism rs28608091 - KCNU1 A8MYU2 VAR_053869 p.Asn916Ser Polymorphism rs16885577 - KCNU1 A8MYU2 VAR_060148 p.Asp175Asn Polymorphism rs1111125 - KCNV1 Q6PIU1 VAR_036804 p.Asp22Gly Polymorphism rs17852611 - KCNV2 Q8TDN2 VAR_027632 p.Leu126Gln Disease - Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027633 p.Trp188Cys Disease - Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027634 p.Ser256Trp Disease - Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027635 p.Ala259Val Disease - Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027637 p.Gly459Asp Disease - Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] KCNV2 Q8TDN2 VAR_027638 p.Leu533Val Polymorphism rs12352254 - KCP Q6ZWJ8 VAR_038783 p.Gly47Glu Polymorphism rs7787221 - KCP Q6ZWJ8 VAR_059625 p.Lys397Glu Polymorphism rs7782976 - KCP Q6ZWJ8 VAR_059626 p.Asp623Val Polymorphism rs3734971 - KCP Q6ZWJ8 VAR_059627 p.Pro1128Arg Polymorphism rs7786641 - KCTD11 Q693B1 VAR_027354 p.Gly22Ser Polymorphism rs8080182 - KCTD15 Q96SI1 VAR_027090 p.Gly64Ser Polymorphism rs17849437 - KCTD17 Q8N5Z5 VAR_027157 p.Arg51Gly Polymorphism rs17852877 - KCTD18 Q6PI47 VAR_027355 p.Ala333Val Polymorphism rs13018579 - KCTD18 Q6PI47 VAR_027356 p.Gly336Cys Polymorphism rs10203154 - KCTD18 Q6PI47 VAR_027357 p.Cys390Ser Polymorphism rs3795969 - KCTD18 Q6PI47 VAR_027358 p.Ala413Val Polymorphism rs10203042 - KCTD19 Q17RG1 VAR_049723 p.Glu750Lys Polymorphism rs16957289 - KCTD1 Q719H9 VAR_049722 p.Leu107Trp Polymorphism rs491684 - KCTD20 Q7Z5Y7 VAR_028854 p.Ser171Thr Polymorphism rs2239808 - KCTD3 Q9Y597 VAR_027156 p.Phe9Val Polymorphism rs2275768 - KCTD8 Q6ZWB6 VAR_027692 p.Pro329Leu Polymorphism rs13115990 - KDELC1 Q6UW63 VAR_027080 p.Ile114Val Polymorphism rs1047740 - KDELC2 Q7Z4H8 VAR_027086 p.Arg319Leu Polymorphism rs17853654 - KDELR3 O43731 VAR_014506 p.Val199Gly Polymorphism rs12004 - KDM3A Q9Y4C1 VAR_026220 p.Ile212Val Polymorphism rs2030259 - KDM3A Q9Y4C1 VAR_030623 p.Glu194Lys Polymorphism rs13424350 - KDM3A Q9Y4C1 VAR_030624 p.Val710Glu Polymorphism rs11677451 - KDM3A Q9Y4C1 VAR_035940 p.Asp187His Unclassified - A breast cancer sample KDM3A Q9Y4C1 VAR_055977 p.Ser447Pro Polymorphism rs34605051 - KDM3B Q7LBC6 VAR_026221 p.Ala256Thr Polymorphism rs6865472 - KDM3B Q7LBC6 VAR_026222 p.Ser1201Asn Polymorphism rs7706614 - KDM4A O75164 VAR_023775 p.Ala482Glu Polymorphism rs586339 - KDM4A O75164 VAR_031217 p.Val877Gly Polymorphism rs12759032 - KDM4B O94953 VAR_026223 p.Asn29Thr Polymorphism rs11667206 - KDM4B O94953 VAR_026224 p.Lys710Glu Polymorphism rs2620836 - KDM4C Q9H3R0 VAR_020340 p.Asp396Asn Polymorphism rs2296067 - KDM4C Q9H3R0 VAR_024681 p.Gln767Glu Polymorphism rs1407856 - KDM4C Q9H3R0 VAR_024682 p.Val1039Ile Polymorphism rs913588 - KDM4C Q9H3R0 VAR_049660 p.Glu206Asp Polymorphism rs7864351 - KDM4C Q9H3R0 VAR_049661 p.Ser492Thr Polymorphism rs35826653 - KDM4C Q9H3R0 VAR_049662 p.Asn697Ser Polymorphism rs35389625 - KDM4C Q9H3R0 VAR_049663 p.Lys772Arg Polymorphism rs1417290 - KDM4D Q6B0I6 VAR_026225 p.Arg408Gln Polymorphism rs3740853 - KDM4D Q6B0I6 VAR_057882 p.Ser355Arg Polymorphism rs35631512 - KDM4D Q6B0I6 VAR_057883 p.Ala471Ser Polymorphism rs34366036 - KDM4E B2RXH2 VAR_063402 p.Ala26Thr Polymorphism rs12798990 - KDM4E B2RXH2 VAR_063403 p.Gln42Arg Polymorphism rs2257265 - KDM4E B2RXH2 VAR_063404 p.Gln113Arg Polymorphism rs10752685 - KDM4E B2RXH2 VAR_063405 p.Phe258Ser Polymorphism rs16921260 - KDM5A P29375 VAR_032984 p.Met865Thr Polymorphism rs11062385 - KDM5A P29375 VAR_032985 p.Pro1190Ala Polymorphism rs2229353 - KDM5C P41229 VAR_022730 p.Ala388Pro Disease - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_022731 p.Asp402Tyr Disease - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_022732 p.Glu698Lys Disease - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_022733 p.Leu731Phe Disease - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032986 p.Asp87Gly Disease - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032987 p.Ser451Arg Disease - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032988 p.Phe642Leu Disease - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032989 p.Arg750Trp Disease - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_032990 p.Tyr751Cys Disease - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] KDM5C P41229 VAR_065091 p.Cys640Tyr Unclassified - - KDM5D Q9BY66 VAR_032991 p.Val1186Leu Polymorphism rs1050807 - KDM6A O15550 VAR_014492 p.Ala30Thr Polymorphism rs6529 - KDM6A O15550 VAR_014493 p.Gln497His Polymorphism rs6530 - KDM6A O15550 VAR_020313 p.Thr726Lys Polymorphism rs2230018 - KDM6A O15550 VAR_035871 p.Leu1106Arg Unclassified - A colorectal cancer sample KDM6A O15550 VAR_046527 p.Thr581Ala Polymorphism rs34922269 - KDM6B O15054 VAR_032927 p.Ser308Leu Polymorphism rs2270516 - KDM6B O15054 VAR_061670 p.Pro203Ala Polymorphism rs60738318 - KDM8 Q8N371 VAR_032928 p.Glu302Asp Polymorphism rs34445573 - KDR P35968 VAR_020353 p.Gln472His Polymorphism rs1870377 - KDR P35968 VAR_022071 p.Val297Ile Polymorphism rs2305948 - KDR P35968 VAR_036126 p.Arg275Leu Unclassified - A colorectal cancer sample KDR P35968 VAR_036127 p.Gly873Arg Unclassified - A colorectal cancer sample KDR P35968 VAR_042053 p.Gln2Arg Unclassified - A lung adenocarcinoma sample KDR P35968 VAR_042054 p.Val136Met Polymorphism rs35636987 - KDR P35968 VAR_042055 p.Ala248Gly Unclassified - A renal clear cell carcinoma sample KDR P35968 VAR_042056 p.Leu462Val Polymorphism rs56286620 - KDR P35968 VAR_042057 p.Cys482Arg Polymorphism rs34231037 - KDR P35968 VAR_042058 p.Gly539Arg Polymorphism rs55716939 - KDR P35968 VAR_042059 p.Thr689Met Polymorphism rs34038364 - KDR P35968 VAR_042060 p.Asp814Asn Polymorphism rs35603373 - KDR P35968 VAR_042061 p.Ala1065Thr Polymorphism rs56302315 - KDR P35968 VAR_046679 p.Val848Glu Polymorphism rs1139776 - KDR P35968 VAR_046680 p.Val952Ile Polymorphism rs13129474 - KDR P35968 VAR_063147 p.Pro1147Ser Disease - Hemangioma capillary infantile (HCI) [MIM:602089] KEAP1 Q14145 VAR_032102 p.Val167Phe Unclassified - A lung adenocarcinoma patient KEAP1 Q14145 VAR_032103 p.Asp236His Unclassified - - KEAP1 Q14145 VAR_032104 p.Gln284Leu Unclassified - A lung adenocarcinoma patient KEAP1 Q14145 VAR_032105 p.Gly333Cys Unclassified - - KEAP1 Q14145 VAR_032106 p.Asp349Asn Polymorphism rs1048289 - KEAP1 Q14145 VAR_032107 p.Gly350Ser Unclassified - - KEAP1 Q14145 VAR_032108 p.Gly364Cys Unclassified - A lung adenocarcinoma cell line KEAP1 Q14145 VAR_032109 p.Gly430Cys Unclassified - A lung adenocarcinoma patient KEAP1 Q14145 VAR_036084 p.Cys23Tyr Unclassified - A breast cancer sample KEAP1 Q14145 VAR_036085 p.Ala522Val Unclassified - A breast cancer sample KEL P23276 VAR_006731 p.Arg180Pro Polymorphism - - KEL P23276 VAR_006732 p.Thr193Met Polymorphism rs8176058 - KEL P23276 VAR_006733 p.Arg281Trp Polymorphism rs8176059 - KEL P23276 VAR_006734 p.Arg281Gln Polymorphism - - KEL P23276 VAR_006735 p.Val302Ala Polymorphism - - KEL P23276 VAR_006736 p.Glu494Val Polymorphism - - KEL P23276 VAR_006737 p.Leu597Pro Polymorphism rs8176038 - KEL P23276 VAR_015120 p.Arg248Gln Polymorphism - - KEL P23276 VAR_015121 p.Glu249Lys Polymorphism - - KEL P23276 VAR_015122 p.Ala322Val Polymorphism - - KEL P23276 VAR_015123 p.Gln382Arg Polymorphism - - KEL P23276 VAR_015124 p.Arg406Gln Polymorphism - - KEL P23276 VAR_015125 p.Arg492Gln Polymorphism - - KEL P23276 VAR_015126 p.His548Arg Polymorphism - - KEL P23276 VAR_016265 p.Ala163Thr Polymorphism rs8175974 - KEL P23276 VAR_016266 p.Ser726Ala Polymorphism rs8176048 - KERA O60938 VAR_012753 p.Thr215Lys Disease - The autosomal recessive cornea plana 2 (CNA2) [MIM:217300] KERA O60938 VAR_012754 p.Asn247Ser Disease - The autosomal recessive cornea plana 2 (CNA2) [MIM:217300] KERA O60938 VAR_013564 p.Val235Gly Polymorphism rs737111 - KHDC3L Q587J8 VAR_054052 p.Glu97Gln Polymorphism rs564533 - KHDC3L Q587J8 VAR_054053 p.Ala201Gly Polymorphism rs561930 - KHDRBS2 Q5VWX1 VAR_036885 p.Gly308Ala Polymorphism rs7449840 - KHK P50053 VAR_006072 p.Gly40Arg Disease - Fructosuria (FRUCT) [MIM:229800] KHK P50053 VAR_006073 p.Ala43Thr Disease - Fructosuria (FRUCT) [MIM:229800] KHK P50053 VAR_006074 p.Val49Ile Polymorphism rs2304681 - KHK P50053 VAR_006075 p.Arg159Gly Polymorphism - - KHNYN O15037 VAR_030843 p.Lys261Thr Polymorphism rs3742520 - KHNYN O15037 VAR_030844 p.Trp270Leu Polymorphism rs7151995 - KIAA0020 Q15397 VAR_023772 p.Arg289Pro Polymorphism rs2173904 - KIAA0020 Q15397 VAR_023773 p.Val297Leu Polymorphism rs2270891 - KIAA0020 Q15397 VAR_051613 p.Ser13Asn Polymorphism rs10968457 - KIAA0020 Q15397 VAR_051614 p.Ile264Val Polymorphism rs35869387 - KIAA0020 Q15397 VAR_051615 p.Thr414Ser Polymorphism rs3736390 - KIAA0020 Q15397 VAR_051616 p.Arg480Gln Polymorphism rs2270889 - KIAA0040 Q15053 VAR_020040 p.Gln26Lys Polymorphism rs2269650 - KIAA0087 Q14695 VAR_044539 p.Ser85Asn Polymorphism rs740182 - KIAA0100 Q14667 VAR_027352 p.His986Gln Polymorphism rs16964472 - KIAA0100 Q14667 VAR_027353 p.Val1516Gly Polymorphism rs12602520 - KIAA0100 Q14667 VAR_052706 p.Arg2060Gly Polymorphism rs16964462 - KIAA0101 Q15004 VAR_051262 p.Glu79Lys Polymorphism rs11554313 - KIAA0141 Q14154 VAR_018272 p.Phe128Leu Polymorphism rs10036567 - KIAA0141 Q14154 VAR_018273 p.Ala247Thr Polymorphism rs351260 - KIAA0141 Q14154 VAR_028197 p.Ala95Thr Polymorphism rs17850821 - KIAA0141 Q14154 VAR_028198 p.Arg468Cys Polymorphism rs10056676 - KIAA0141 Q14154 VAR_055940 p.Gly60Asp Polymorphism rs34438707 - KIAA0195 Q12767 VAR_019508 p.Ile1040Thr Polymorphism rs8073809 - KIAA0196 Q12768 VAR_031955 p.Asn471Asp Disease - Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563] KIAA0196 Q12768 VAR_031956 p.Leu619Phe Disease - Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563] KIAA0196 Q12768 VAR_031957 p.Val626Phe Disease - Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563] KIAA0226L Q9H714 VAR_022912 p.Gly152Arg Polymorphism rs1408184 - KIAA0319L Q8IZA0 VAR_042644 p.Gly243Asp Polymorphism rs1635712 - KIAA0319L Q8IZA0 VAR_042645 p.Gln837His Polymorphism rs1361040 - KIAA0319 Q5VV43 VAR_023837 p.Thr142Pro Polymorphism rs4576240 - KIAA0319 Q5VV43 VAR_023838 p.Ala311Thr Polymorphism rs4504469 - KIAA0319 Q5VV43 VAR_034032 p.Gly919Ala Polymorphism rs10946705 - KIAA0319 Q5VV43 VAR_049505 p.Gly567Ser Polymorphism rs2744559 - KIAA0319 Q5VV43 VAR_049506 p.Ser773Gly Polymorphism rs2744550 - KIAA0319 Q5VV43 VAR_049507 p.Val774Ala Polymorphism rs2817191 - KIAA0319 Q5VV43 VAR_049508 p.Tyr1013Cys Polymorphism rs807534 - KIAA0391 O15091 VAR_054212 p.Asn437Ser Polymorphism rs11156878 - KIAA0408 Q6ZU52 VAR_027082 p.Ser61Arg Polymorphism rs3734447 - KIAA0408 Q6ZU52 VAR_049510 p.Ser331Leu Polymorphism rs2236026 - KIAA0513 O60268 VAR_034035 p.Arg100His Polymorphism rs4783121 - KIAA0556 O60303 VAR_037654 p.Thr522Met Polymorphism rs12930355 - KIAA0556 O60303 VAR_037655 p.Ala535Ser Polymorphism rs11643103 - KIAA0556 O60303 VAR_037656 p.Arg885Gln Polymorphism rs16976970 - KIAA0556 O60303 VAR_037657 p.Ala1267Thr Polymorphism rs4787984 - KIAA0556 O60303 VAR_037658 p.Arg1368Gln Polymorphism rs11644502 - KIAA0556 O60303 VAR_037659 p.Val1597Ile Polymorphism rs2287790 - KIAA0556 O60303 VAR_061238 p.Ala1240Val Polymorphism rs55953014 - KIAA0753 Q2KHM9 VAR_031065 p.His201Gln Polymorphism rs16955985 - KIAA0753 Q2KHM9 VAR_031066 p.Glu375Asp Polymorphism rs9889363 - KIAA0753 Q2KHM9 VAR_031067 p.Glu375Gly Polymorphism rs17794522 - KIAA0753 Q2KHM9 VAR_031068 p.Asp444Asn Polymorphism rs2289643 - KIAA0753 Q2KHM9 VAR_031069 p.Leu466Pro Polymorphism rs2289642 - KIAA0753 Q2KHM9 VAR_031070 p.Val501Met Polymorphism rs11868877 - KIAA0753 Q2KHM9 VAR_031071 p.Pro566Leu Polymorphism rs2304977 - KIAA0753 Q2KHM9 VAR_031072 p.Gln896Arg Polymorphism rs1443417 - KIAA0754 O94854 VAR_033338 p.Ile824Val Polymorphism rs1746842 - KIAA0754 O94854 VAR_033339 p.Thr969Ala Polymorphism rs783822 - KIAA0754 O94854 VAR_033340 p.Glu1058Lys Polymorphism rs587523 - KIAA0825 Q8IV33 VAR_038391 p.Lys46Glu Polymorphism rs2044909 - KIAA0922 A2VDJ0 VAR_042551 p.Ile604Val Polymorphism rs7669418 - KIAA0922 A2VDJ0 VAR_042552 p.Met645Thr Polymorphism rs17370297 - KIAA0922 A2VDJ0 VAR_042553 p.Ser1110Tyr Polymorphism rs755078 - KIAA0922 A2VDJ0 VAR_042554 p.Asn1254Ser Polymorphism rs35018723 - KIAA0922 A2VDJ0 VAR_042555 p.Ala1392Pro Polymorphism rs35543386 - KIAA0947 Q9Y2F5 VAR_033341 p.Cys391Ser Polymorphism rs2619844 - KIAA0947 Q9Y2F5 VAR_033342 p.Lys596Glu Polymorphism rs10475299 - KIAA0947 Q9Y2F5 VAR_033343 p.Val901Ile Polymorphism rs2578500 - KIAA0947 Q9Y2F5 VAR_033344 p.Thr1054Ala Polymorphism rs3806873 - KIAA0947 Q9Y2F5 VAR_033345 p.Gly1058Asp Polymorphism rs3806874 - KIAA0947 Q9Y2F5 VAR_033346 p.Gln1597Pro Polymorphism rs10065646 - KIAA0947 Q9Y2F5 VAR_055943 p.Pro1618Leu Polymorphism rs3747731 - KIAA1009 Q5TB80 VAR_033301 p.Cys266Ser Polymorphism rs17790493 - KIAA1009 Q5TB80 VAR_033302 p.Glu272Gln Polymorphism rs16874323 - KIAA1009 Q5TB80 VAR_051293 p.Ser342Cys Polymorphism rs17790493 - KIAA1009 Q5TB80 VAR_051294 p.Glu348Gln Polymorphism rs16874323 - KIAA1024 Q9UPX6 VAR_022042 p.Ile832Val Polymorphism rs2297773 - KIAA1024 Q9UPX6 VAR_034044 p.Val320Phe Polymorphism rs11634652 - KIAA1033 Q2M389 VAR_031417 p.Val323Leu Polymorphism rs34434425 - KIAA1033 Q2M389 VAR_031418 p.Val901Ile Polymorphism rs1663564 - KIAA1033 Q2M389 VAR_057825 p.Thr599Ser Polymorphism rs1345092 - KIAA1107 Q9UPP5 VAR_060300 p.His422Arg Polymorphism rs2128647 - KIAA1107 Q9UPP5 VAR_060301 p.Ser442Ile Polymorphism rs12084085 - KIAA1107 Q9UPP5 VAR_060302 p.Val522Leu Polymorphism rs7552286 - KIAA1107 Q9UPP5 VAR_060303 p.Gln602Arg Polymorphism rs11166332 - KIAA1107 Q9UPP5 VAR_060304 p.Asp681Gly Polymorphism rs7523466 - KIAA1107 Q9UPP5 VAR_060305 p.Asn715Tyr Polymorphism rs7523552 - KIAA1107 Q9UPP5 VAR_060306 p.Lys826Glu Polymorphism rs3738439 - KIAA1107 Q9UPP5 VAR_060307 p.Asn945Ser Polymorphism rs560389 - KIAA1107 Q9UPP5 VAR_060308 p.Asn1048Thr Polymorphism rs565156 - KIAA1107 Q9UPP5 VAR_060309 p.Phe1083Val Polymorphism rs17578364 - KIAA1107 Q9UPP5 VAR_060310 p.Val1158Ile Polymorphism rs566576 - KIAA1109 Q2LD37 VAR_038547 p.Ile978Thr Polymorphism rs6848868 - KIAA1109 Q2LD37 VAR_038548 p.Thr4352Ala Polymorphism rs2306369 - KIAA1109 Q2LD37 VAR_038549 p.Thr4786Ala Polymorphism rs10017270 - KIAA1109 Q2LD37 VAR_061241 p.Asp1951Glu Polymorphism rs56363411 - KIAA1109 Q2LD37 VAR_061242 p.Ser2521Arg Polymorphism rs45608936 - KIAA1143 Q96AT1 VAR_027272 p.Ile139Met Polymorphism rs3853404 - KIAA1161 Q6NSJ0 VAR_033359 p.Asn4Ile Polymorphism rs2297776 - KIAA1161 Q6NSJ0 VAR_033360 p.Asp53Glu Polymorphism rs4879781 - KIAA1161 Q6NSJ0 VAR_033361 p.Arg199Ser Polymorphism rs12377 - KIAA1161 Q6NSJ0 VAR_033362 p.Phe385Tyr Polymorphism rs7852399 - KIAA1199 Q8WUJ3 VAR_018165 p.Arg187Cys Unclassified - - KIAA1199 Q8WUJ3 VAR_018166 p.Arg187His Unclassified - - KIAA1199 Q8WUJ3 VAR_018167 p.His783Arg Polymorphism rs12441101 - KIAA1199 Q8WUJ3 VAR_018168 p.His783Tyr Unclassified - - KIAA1199 Q8WUJ3 VAR_018169 p.Val1109Ile Polymorphism - - KIAA1199 Q8WUJ3 VAR_018170 p.Pro1169Ala Polymorphism rs16972583 - KIAA1210 Q9ULL0 VAR_061243 p.Gly103Val Polymorphism rs5910522 - KIAA1210 Q9ULL0 VAR_061244 p.Leu419Phe Polymorphism rs35613130 - KIAA1210 Q9ULL0 VAR_061245 p.Pro844Ala Polymorphism rs7063611 - KIAA1210 Q9ULL0 VAR_061246 p.Glu852Ala Polymorphism rs7050904 - KIAA1210 Q9ULL0 VAR_061247 p.Ile945Phe Polymorphism rs3761592 - KIAA1210 Q9ULL0 VAR_061248 p.Arg1032Trp Polymorphism rs17335909 - KIAA1210 Q9ULL0 VAR_061249 p.Glu1616Gly Polymorphism rs2305570 - KIAA1211L Q6NV74 VAR_047335 p.Ser315Cys Polymorphism rs3731660 - KIAA1211 Q6ZU35 VAR_044205 p.Leu269Ile Polymorphism rs6823339 - KIAA1211 Q6ZU35 VAR_044206 p.Arg655Pro Polymorphism rs7672073 - KIAA1211 Q6ZU35 VAR_044207 p.Arg710Gln Polymorphism rs3796546 - KIAA1211 Q6ZU35 VAR_044208 p.Ser776Leu Polymorphism rs3796547 - KIAA1217 Q5T5P2 VAR_051358 p.Ala145Gly Polymorphism rs17506606 - KIAA1217 Q5T5P2 VAR_051359 p.Ala887Thr Polymorphism rs10828663 - KIAA1217 Q5T5P2 VAR_051360 p.Pro1362Ala Polymorphism rs16924863 - KIAA1239 Q9ULI1 VAR_039304 p.Leu569Met Polymorphism rs4634233 - KIAA1279 Q96EK5 VAR_023311 p.Gly66Ser Polymorphism rs2255607 - KIAA1324L A8MWY0 VAR_043161 p.Asn539Tyr Polymorphism rs1029366 - KIAA1324L A8MWY0 VAR_043162 p.Leu729Val Polymorphism rs34412146 - KIAA1324L A8MWY0 VAR_043163 p.Ser767Arg Polymorphism rs34577440 - KIAA1324 Q6UXG2 VAR_032138 p.Ile86Val Polymorphism rs678238 - KIAA1324 Q6UXG2 VAR_032139 p.Thr623Pro Polymorphism rs659543 - KIAA1324 Q6UXG2 VAR_032140 p.Leu1009Pro Polymorphism rs1052878 - KIAA1324 Q6UXG2 VAR_035751 p.Ser829Arg Unclassified - A breast cancer sample KIAA1328 Q86T90 VAR_037483 p.Arg383Cys Polymorphism rs12326301 - KIAA1377 Q9P2H0 VAR_027363 p.Ala178Thr Polymorphism rs11225086 - KIAA1377 Q9P2H0 VAR_027364 p.Gly238Cys Polymorphism rs7926728 - KIAA1377 Q9P2H0 VAR_027365 p.Ser275Tyr Polymorphism rs11225089 - KIAA1377 Q9P2H0 VAR_027366 p.Ile281Thr Polymorphism rs11225090 - KIAA1377 Q9P2H0 VAR_027367 p.Ala302Thr Polymorphism rs11225091 - KIAA1377 Q9P2H0 VAR_027368 p.Pro710Ser Polymorphism rs7109614 - KIAA1377 Q9P2H0 VAR_027369 p.Met1021Thr Polymorphism rs7111429 - KIAA1377 Q9P2H0 VAR_027370 p.Ser1077Asn Polymorphism rs6590942 - KIAA1407 Q8NCU4 VAR_036913 p.Arg374Trp Polymorphism rs17603649 - KIAA1407 Q8NCU4 VAR_036914 p.Glu696Asp Polymorphism rs6784095 - KIAA1429 Q69YN4 VAR_036845 p.Ile753Val Polymorphism rs7814840 - KIAA1430 Q9P2B7 VAR_036915 p.Thr238Ala Polymorphism rs1133657 - KIAA1430 Q9P2B7 VAR_036916 p.Leu443Ser Polymorphism rs6820332 - KIAA1456 Q8N9K7 VAR_029820 p.Gln18His Polymorphism rs2272624 - KIAA1456 Q8N9K7 VAR_029821 p.Ser111Thr Polymorphism rs17179534 - KIAA1456 Q9P272 VAR_056243 p.Pro219Thr Polymorphism rs505480 - KIAA1456 Q9P272 VAR_056244 p.Ile265Thr Polymorphism rs3739308 - KIAA1456 Q9P272 VAR_056245 p.His337Leu Polymorphism rs34995506 - KIAA1456 Q9P272 VAR_061378 p.His150Arg Polymorphism rs528255 - KIAA1456 Q9P272 VAR_061379 p.Cys207Gly Polymorphism rs3739310 - KIAA1456 Q9P272 VAR_061380 p.Gly304Glu Polymorphism rs502882 - KIAA1456 Q9P272 VAR_061381 p.Arg451Gly Polymorphism rs608052 - KIAA1462 Q9P266 VAR_037867 p.Glu487Asp Polymorphism rs7917573 - KIAA1462 Q9P266 VAR_037868 p.Asp494Asn Polymorphism rs7917566 - KIAA1462 Q9P266 VAR_037869 p.Glu729Ala Polymorphism rs7901855 - KIAA1462 Q9P266 VAR_037870 p.Arg957Gly Polymorphism rs2185724 - KIAA1462 Q9P266 VAR_037871 p.Ser1002Thr Polymorphism rs3739998 - KIAA1462 Q9P266 VAR_037872 p.Ala1095Gly Polymorphism rs12240677 - KIAA1468 Q9P260 VAR_037660 p.Gly929Glu Unclassified - A colorectal cancer sample KIAA1522 Q9P206 VAR_037190 p.Pro57Ser Polymorphism rs11803515 - KIAA1522 Q9P206 VAR_037191 p.Ser114Pro Polymorphism rs3737994 - KIAA1522 Q9P206 VAR_037192 p.Met232Val Polymorphism rs12730560 - KIAA1522 Q9P206 VAR_037193 p.Leu310Ile Polymorphism rs11582639 - KIAA1522 Q9P206 VAR_037194 p.Pro770Leu Polymorphism rs581875 - KIAA1522 Q9P206 VAR_037195 p.Glu1021Lys Polymorphism rs675928 - KIAA1524 Q8TCG1 VAR_046939 p.Lys126Arg Polymorphism rs7648496 - KIAA1524 Q8TCG1 VAR_046940 p.Arg229Gln Polymorphism rs2278911 - KIAA1524 Q8TCG1 VAR_046941 p.Thr409Ile Polymorphism rs9856308 - KIAA1524 Q8TCG1 VAR_046942 p.Thr447Ala Polymorphism rs34944683 - KIAA1524 Q8TCG1 VAR_046943 p.Pro494Leu Polymorphism rs13083928 - KIAA1524 Q8TCG1 VAR_046944 p.Ser572Ala Polymorphism rs34172460 - KIAA1524 Q8TCG1 VAR_046945 p.Arg680Thr Polymorphism rs6777766 - KIAA1524 Q8TCG1 VAR_046946 p.Ile759Val Polymorphism rs13071874 - KIAA1549 Q9HCM3 VAR_044187 p.Ala448Pro Polymorphism rs2718131 - KIAA1549 Q9HCM3 VAR_044188 p.Val851Gly Polymorphism rs2354336 - KIAA1549 Q9HCM3 VAR_057812 p.Pro652Leu Polymorphism rs2774960 - KIAA1551 Q9HCM1 VAR_033268 p.Ile59Val Polymorphism rs7298803 - KIAA1551 Q9HCM1 VAR_033269 p.His106Gln Polymorphism rs2388981 - KIAA1551 Q9HCM1 VAR_033270 p.Ile202Val Polymorphism rs12320740 - KIAA1551 Q9HCM1 VAR_033271 p.Leu250Pro Polymorphism rs2166807 - KIAA1551 Q9HCM1 VAR_033272 p.Arg309Gln Polymorphism rs16919122 - KIAA1551 Q9HCM1 VAR_033273 p.Ser346Asn Polymorphism rs3207618 - KIAA1551 Q9HCM1 VAR_033274 p.Ser352Gly Polymorphism rs10771894 - KIAA1551 Q9HCM1 VAR_033275 p.Ser433Thr Polymorphism rs3759302 - KIAA1551 Q9HCM1 VAR_033276 p.Ser518Pro Polymorphism rs3759301 - KIAA1551 Q9HCM1 VAR_033277 p.Phe954Ser Polymorphism rs3809228 - KIAA1551 Q9HCM1 VAR_033278 p.Thr1010Lys Polymorphism rs16919127 - KIAA1551 Q9HCM1 VAR_033279 p.Ser1208Cys Polymorphism rs3759299 - KIAA1551 Q9HCM1 VAR_033280 p.Val1226Ile Polymorphism rs1057994 - KIAA1551 Q9HCM1 VAR_033281 p.Thr1338Ala Polymorphism rs3759296 - KIAA1551 Q9HCM1 VAR_061608 p.Pro147Ser Polymorphism rs61353224 - KIAA1551 Q9HCM1 VAR_061609 p.Met1479Thr Polymorphism rs56682866 - KIAA1586 Q9HCI6 VAR_039276 p.Phe75Leu Polymorphism rs36113897 - KIAA1586 Q9HCI6 VAR_039277 p.Val81Met Polymorphism rs6926980 - KIAA1609 Q6P9B6 VAR_037675 p.Arg10Leu Polymorphism rs8046813 - KIAA1609 Q6P9B6 VAR_037676 p.His97Gln Polymorphism rs8055536 - KIAA1609 Q6P9B6 VAR_037677 p.Asp172Glu Polymorphism rs436278 - KIAA1609 Q6P9B6 VAR_037678 p.Ile220Val Polymorphism rs431818 - KIAA1609 Q6P9B6 VAR_037679 p.Glu233Asp Polymorphism rs34244563 - KIAA1609 Q6P9B6 VAR_037680 p.Cys267Arg Polymorphism rs422145 - KIAA1609 Q6P9B6 VAR_037681 p.Ser443Leu Polymorphism rs34628943 - KIAA1614 Q5VZ46 VAR_037682 p.His214Tyr Polymorphism rs3747959 - KIAA1614 Q5VZ46 VAR_037683 p.Arg740Trp Polymorphism rs17302207 - KIAA1614 Q5VZ46 VAR_037684 p.Leu801Phe Polymorphism rs3795504 - KIAA1614 Q5VZ46 VAR_037685 p.Asn1078Asp Polymorphism rs2331995 - KIAA1614 Q5VZ46 VAR_063118 p.Leu64Pro Polymorphism rs10732273 - KIAA1683 Q9H0B3 VAR_023418 p.Leu44Pro Polymorphism rs1469023 - KIAA1683 Q9H0B3 VAR_023419 p.Leu235Val Polymorphism rs8103906 - KIAA1683 Q9H0B3 VAR_023420 p.Ser285Thr Polymorphism rs8104533 - KIAA1683 Q9H0B3 VAR_023421 p.Met359Thr Polymorphism rs3746186 - KIAA1683 Q9H0B3 VAR_023422 p.Pro908His Polymorphism rs999813 - KIAA1683 Q9H0B3 VAR_034042 p.Tyr648Phe Polymorphism rs8110972 - KIAA1683 Q9H0B3 VAR_034043 p.Pro823Arg Polymorphism rs12608777 - KIAA1683 Q9H0B3 VAR_049520 p.Ala50Val Polymorphism rs3810431 - KIAA1683 Q9H0B3 VAR_049521 p.Cys197Arg Polymorphism rs12609001 - KIAA1683 Q9H0B3 VAR_049522 p.Thr524Ala Polymorphism rs12462974 - KIAA1683 Q9H0B3 VAR_049523 p.Thr610Pro Polymorphism rs2277922 - KIAA1683 Q9H0B3 VAR_049524 p.Ala614Val Polymorphism rs16982285 - KIAA1683 Q9H0B3 VAR_049525 p.Pro835Leu Polymorphism rs2277921 - KIAA1731 Q9C0D2 VAR_059337 p.Gln80Lys Polymorphism rs7128850 - KIAA1731 Q9C0D2 VAR_059338 p.Arg208Gln Polymorphism rs10831088 - KIAA1731 Q9C0D2 VAR_059339 p.Ala499Glu Polymorphism rs4753495 - KIAA1731 Q9C0D2 VAR_059340 p.Glu1026Lys Polymorphism rs3802771 - KIAA1731 Q9C0D2 VAR_059341 p.Ala1270Gly Polymorphism rs2298707 - KIAA1731 Q9C0D2 VAR_059342 p.Gly1441Glu Polymorphism rs3802773 - KIAA1731 Q9C0D2 VAR_059343 p.Leu1459Arg Polymorphism rs3802774 - KIAA1737 Q9C0C6 VAR_028881 p.Leu31Phe Polymorphism rs11552006 - KIAA1737 Q9C0C6 VAR_049526 p.Thr203Ala Polymorphism rs759593 - KIAA1751 Q9C0B2 VAR_039873 p.Ser50Ile Polymorphism rs13303083 - KIAA1751 Q9C0B2 VAR_039874 p.Ile363Val Polymorphism rs16824588 - KIAA1751 Q9C0B2 VAR_039875 p.Gly628Cys Polymorphism rs3820011 - KIAA1755 Q5JYT7 VAR_038501 p.Lys339Asn Polymorphism rs1205434 - KIAA1755 Q5JYT7 VAR_038502 p.Pro415Leu Polymorphism rs6024235 - KIAA1755 Q5JYT7 VAR_038503 p.Ala633Val Polymorphism rs16987188 - KIAA1755 Q5JYT7 VAR_038504 p.Glu940Lys Polymorphism rs760998 - KIAA1755 Q5JYT7 VAR_038505 p.Arg1045Trp Polymorphism rs3746471 - KIAA1875 A6NE52 VAR_043029 p.Arg149Gly Polymorphism rs4977196 - KIAA1875 A6NE52 VAR_043030 p.His427Gln Polymorphism rs34324679 - KIAA1875 A6NE52 VAR_043031 p.Glu537Gly Polymorphism rs13250446 - KIAA1984 Q5T5S1 VAR_033046 p.Met38Thr Polymorphism rs945386 - KIAA1984 Q5T5S1 VAR_033047 p.Leu113Arg Polymorphism rs4546744 - KIAA1984 Q5T5S1 VAR_033048 p.Asp129Ala Polymorphism rs7859194 - KIAA1984 Q5T5S1 VAR_033049 p.Trp342Arg Polymorphism rs2811795 - KIAA1984 Q5T5S1 VAR_063112 p.Asn421Thr Polymorphism rs2254143 - KIAA2018 Q68DE3 VAR_033363 p.Pro222Ala Polymorphism rs9866806 - KIAA2018 Q68DE3 VAR_033364 p.Ala1966Val Polymorphism rs2290477 - KIAA2018 Q68DE3 VAR_055949 p.Ala907Glu Polymorphism rs9852318 - KIAA2018 Q68DE3 VAR_055950 p.Val943Gly Polymorphism rs6770105 - KIAA2018 Q68DE3 VAR_063263 p.Val2200Ala Polymorphism rs930818 - KIAA2022 Q5QGS0 VAR_049529 p.Ile1112Thr Polymorphism rs12851763 - KIDINS220 Q9ULH0 VAR_039399 p.Arg1307His Polymorphism rs2304591 - KIDINS220 Q9ULH0 VAR_039400 p.Gln1608His Polymorphism rs1044280 - KIDINS220 Q9ULH0 VAR_048285 p.Ile538Thr Polymorphism rs2289229 - KIF11 P52732 VAR_049682 p.Leu1042Phe Polymorphism rs34417963 - KIF13A Q9H1H9 VAR_029389 p.Met1415Val Polymorphism rs17689215 - KIF13A Q9H1H9 VAR_049699 p.Phe1600Ser Polymorphism rs12211658 - KIF13B Q9NQT8 VAR_055982 p.Val1471Ile Polymorphism rs17526980 - KIF14 Q15058 VAR_037777 p.Pro1633Ala Polymorphism rs12120084 - KIF15 Q9NS87 VAR_042464 p.Ala211Val Polymorphism rs34862960 - KIF15 Q9NS87 VAR_042465 p.Thr996Ser Polymorphism rs11710339 - KIF15 Q9NS87 VAR_042466 p.Leu1206Met Polymorphism rs3804583 - KIF15 Q9NS87 VAR_042467 p.Glu1272Asp Polymorphism rs17076986 - KIF16B Q96L93 VAR_019396 p.Arg824Ser Polymorphism rs2236144 - KIF16B Q96L93 VAR_019397 p.Met1027Thr Polymorphism rs6034464 - KIF16B Q96L93 VAR_019398 p.Asn1119Ser Polymorphism rs8123195 - KIF16B Q96L93 VAR_036218 p.Lys772Thr Unclassified - A breast cancer sample KIF16B Q96L93 VAR_049700 p.Gly810Arg Polymorphism rs2236145 - KIF16B Q96L93 VAR_065248 p.Lys999Asn Polymorphism rs8116503 - KIF17 Q9P2E2 VAR_023527 p.Val402Met Polymorphism rs522496 - KIF17 Q9P2E2 VAR_023528 p.Asp933Glu Polymorphism rs631357 - KIF17 Q9P2E2 VAR_055983 p.Ile341Val Polymorphism rs2296225 - KIF17 Q9P2E2 VAR_055984 p.Val675Ile Polymorphism rs558760 - KIF17 Q9P2E2 VAR_055985 p.Val735Ile Polymorphism rs13375609 - KIF17 Q9P2E2 VAR_061282 p.Ser369Arg Polymorphism rs56750936 - KIF18A Q8NI77 VAR_038354 p.Ile735Val Polymorphism rs10458896 - KIF18A Q8NI77 VAR_049701 p.Thr273Ala Polymorphism rs12272419 - KIF18A Q8NI77 VAR_049702 p.Pro334Ser Polymorphism rs34913484 - KIF18B Q86Y91 VAR_038925 p.Gln527Arg Polymorphism rs17546822 - KIF19 Q2TAC6 VAR_030719 p.Arg471Trp Polymorphism rs2382644 - KIF19 Q2TAC6 VAR_049703 p.Leu937Pro Polymorphism rs9891620 - KIF19 Q2TAC6 VAR_059371 p.Arg807His Polymorphism rs2271535 - KIF19 Q2TAC6 VAR_061283 p.Arg974Gln Polymorphism rs9675190 - KIF1B O60333 VAR_011515 p.Gln98Leu Disease - Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210] KIF1B O60333 VAR_063531 p.Ser34Leu Unclassified - - KIF1B O60333 VAR_063532 p.Glu692Val Unclassified - - KIF1B O60333 VAR_063533 p.Thr873Ile Unclassified - - KIF1B O60333 VAR_063534 p.Tyr1133Cys Polymorphism - - KIF1B O60333 VAR_063535 p.Pro1263Ser Unclassified - - KIF1B O60333 VAR_063536 p.Ser1527Asn Unclassified - - KIF1B O60333 VAR_063537 p.Val1600Met Polymorphism - - KIF1B O60333 VAR_063538 p.Glu1674Lys Unclassified - - KIF20A O95235 VAR_049704 p.Glu63Lys Polymorphism rs3734116 - KIF20A O95235 VAR_049705 p.Pro839Leu Polymorphism rs3172747 - KIF20B Q96Q89 VAR_030181 p.Ala50Gly Polymorphism rs1129777 - KIF20B Q96Q89 VAR_030182 p.Glu490Asp Polymorphism rs17484219 - KIF20B Q96Q89 VAR_030183 p.Asn756Ile Polymorphism rs12572012 - KIF20B Q96Q89 VAR_030184 p.His789Leu Polymorphism rs3758388 - KIF20B Q96Q89 VAR_030185 p.Asp1011Glu Polymorphism rs1062465 - KIF20B Q96Q89 VAR_030186 p.Glu1127Gln Polymorphism rs11185863 - KIF20B Q96Q89 VAR_030187 p.Cys1177Arg Polymorphism rs1886996 - KIF20B Q96Q89 VAR_030188 p.Asn1219Ser Polymorphism rs1886997 - KIF20B Q96Q89 VAR_030189 p.Ile1789Val Polymorphism rs3758390 - KIF21A Q7Z4S6 VAR_019399 p.Met356Thr Disease - Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019400 p.Met947Arg Disease - Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019401 p.Met947Val Disease - Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019402 p.Arg954Gln Disease - Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019403 p.Arg954Trp Disease - Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_019404 p.Ile1010Thr Disease - Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] KIF21A Q7Z4S6 VAR_027021 p.Met947Thr Disease - Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] KIF23 Q02241 VAR_049686 p.Phe515Leu Polymorphism rs17310879 - KIF24 Q5T7B8 VAR_030720 p.Asp50Glu Polymorphism rs16935508 - KIF24 Q5T7B8 VAR_030721 p.Met140Val Polymorphism rs10972048 - KIF24 Q5T7B8 VAR_049706 p.Trp218Leu Polymorphism rs17350674 - KIF24 Q5T7B8 VAR_049707 p.Thr1077Lys Polymorphism rs34101674 - KIF24 Q5T7B8 VAR_061284 p.Arg109Gly Polymorphism rs41274845 - KIF24 Q5T7B8 VAR_061285 p.Ser837Phe Polymorphism rs41274041 - KIF25-AS1 Q9Y6Z4 VAR_033051 p.His23Asp Polymorphism rs9355149 - KIF25-AS1 Q9Y6Z4 VAR_033052 p.Cys24Arg Polymorphism rs2516801 - KIF25-AS1 Q9Y6Z4 VAR_033053 p.Gln57Glu Polymorphism rs9364382 - KIF25 Q9UIL4 VAR_049687 p.Thr229Pro Polymorphism rs12197062 - KIF25 Q9UIL4 VAR_049688 p.Ala255Thr Polymorphism rs2073634 - KIF25 Q9UIL4 VAR_059369 p.Lys28Met Polymorphism rs4708626 - KIF25 Q9UIL4 VAR_061280 p.Ala41Thr Polymorphism rs34049091 - KIF27 Q86VH2 VAR_035361 p.Ile213Val Polymorphism rs12001918 - KIF27 Q86VH2 VAR_035362 p.Arg300Gln Polymorphism rs35594736 - KIF27 Q86VH2 VAR_061286 p.Asn1036Asp Polymorphism rs55654273 - KIF2B Q8N4N8 VAR_028717 p.Ala112Val Polymorphism rs3803824 - KIF2B Q8N4N8 VAR_028718 p.Gly128Arg Polymorphism rs9912492 - KIF2B Q8N4N8 VAR_028719 p.Pro417Ser Polymorphism rs4561518 - KIF2B Q8N4N8 VAR_028720 p.Arg437Gly Polymorphism rs4561519 - KIF2B Q8N4N8 VAR_061279 p.Pro148Ser Polymorphism rs59657238 - KIF2C Q99661 VAR_049683 p.Ile449Leu Polymorphism rs4342887 - KIF3A Q9Y496 VAR_055319 p.Lys172Ile Polymorphism rs17854353 - KIF3C O14782 VAR_055120 p.Gln370Arg Polymorphism rs1465878 - KIF4A O95239 VAR_021828 p.Leu422Trp Polymorphism rs1199457 - KIF4A O95239 VAR_049693 p.Ala491Val Polymorphism rs2297871 - KIF4A O95239 VAR_049694 p.Leu1193Ser Polymorphism rs1046485 - KIF4B Q2VIQ3 VAR_049695 p.Glu494Gln Polymorphism rs17116709 - KIF4B Q2VIQ3 VAR_049696 p.Arg580Leu Polymorphism rs6580126 - KIF4B Q2VIQ3 VAR_049697 p.Arg680His Polymorphism rs17116710 - KIF4B Q2VIQ3 VAR_061281 p.Tyr684Cys Polymorphism rs10056252 - KIF5A Q12840 VAR_032842 p.Asn256Ser Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_032843 p.Arg280Cys Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_032844 p.Ala361Val Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_033108 p.Tyr276Cys Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_046744 p.Lys253Asn Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_058741 p.Tyr63Cys Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_058742 p.Met198Thr Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_058743 p.Arg204Gln Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_058744 p.Glu251Lys Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_058746 p.Lys257Asn Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_058747 p.Arg280His Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF5A Q12840 VAR_058748 p.Arg280Leu Disease - Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] KIF6 Q6ZMV9 VAR_022810 p.Trp719Arg Polymorphism rs20455 - KIF6 Q6ZMV9 VAR_036217 p.Ala386Glu Unclassified - A breast cancer sample KIF6 Q6ZMV9 VAR_049698 p.Arg512His Polymorphism rs2273063 - KIF7 Q2M1P5 VAR_035363 p.Ser958Ile Polymorphism rs3803530 - KIF7 Q2M1P5 VAR_035364 p.Gly1005Arg Polymorphism rs12900805 - KIF7 Q2M1P5 VAR_061287 p.Asp52Asn Polymorphism rs8179065 - KIF9 Q9HAQ2 VAR_020443 p.Gly96Ala Polymorphism rs3733092 - KIF9 Q9HAQ2 VAR_022139 p.Val78Ile Polymorphism rs2270569 - KIF9 Q9HAQ2 VAR_024513 p.Arg638Trp Polymorphism rs2276853 - KIFAP3 Q92845 VAR_051081 p.Ser513Ala Polymorphism rs12075833 - KIFC1 Q9BW19 VAR_012650 p.Arg219Gln Polymorphism - - KIFC2 Q96AC6 VAR_049684 p.Gly67Glu Polymorphism rs35817880 - KIFC2 Q96AC6 VAR_049685 p.Ser166Phe Polymorphism rs12675537 - KIFC3 Q9BVG8 VAR_028114 p.Gly391Val Polymorphism rs17854089 - KIR2DL1 P43626 VAR_003949 p.Val5Phe Polymorphism rs2304224 - KIR2DL1 P43626 VAR_003950 p.Pro37Arg Polymorphism rs35509911 - KIR2DL1 P43626 VAR_003951 p.Pro135Leu Polymorphism - - KIR2DL1 P43626 VAR_010331 p.Pro175Thr Polymorphism - - KIR2DL1 P43626 VAR_010332 p.Asp184Asn Polymorphism - - KIR2DL1 P43626 VAR_010333 p.His203Arg Polymorphism - - KIR2DL1 P43626 VAR_010334 p.Lys237Glu Polymorphism - - KIR2DL1 P43626 VAR_010335 p.Arg266Cys Polymorphism - - KIR2DL1 P43626 VAR_056091 p.Phe66Tyr Polymorphism rs673568 - KIR2DL1 P43626 VAR_061332 p.Ala9Val Polymorphism rs3810343 - KIR2DL1 P43626 VAR_061333 p.Val111Leu Polymorphism rs687885 - KIR2DL2 P43627 VAR_021929 p.Arg37Pro Polymorphism rs613240 - KIR2DL2 P43627 VAR_059417 p.Ala9Val Polymorphism rs3810343 - KIR2DL2 P43627 VAR_059418 p.Phe66Tyr Polymorphism rs673568 - KIR2DL3 P43628 VAR_010313 p.Val9Ala Polymorphism rs3810343 - KIR2DL3 P43628 VAR_010314 p.Leu32Arg Polymorphism - - KIR2DL3 P43628 VAR_010315 p.Gln56Glu Polymorphism rs35719984 - KIR2DL3 P43628 VAR_010316 p.His71Arg Polymorphism - - KIR2DL3 P43628 VAR_010317 p.Arg318His Polymorphism rs1049267 - KIR2DL3 P43628 VAR_015967 p.His34Gln Polymorphism - - KIR2DL3 P43628 VAR_015968 p.Pro229Leu Polymorphism rs35861855 - KIR2DL3 P43628 VAR_015969 p.Arg242Ile Polymorphism - - KIR2DL3 P43628 VAR_015970 p.Ala304Thr Polymorphism rs4020187 - KIR2DL3 P43628 VAR_049978 p.Pro37Arg Polymorphism rs613240 - KIR2DL3 P43628 VAR_049979 p.Phe66Tyr Polymorphism rs673568 - KIR2DL4 Q99706 VAR_010307 p.Tyr53Cys Polymorphism rs618835 - KIR2DL4 Q99706 VAR_010308 p.Val87Leu Polymorphism rs1057767 - KIR2DL4 Q99706 VAR_010309 p.Ala138Thr Polymorphism rs1051454 - KIR2DL4 Q99706 VAR_010310 p.Pro209Ala Polymorphism rs1051456 - KIR2DL4 Q99706 VAR_010311 p.Asp271Asn Polymorphism - - KIR2DL4 Q99706 VAR_010312 p.Asn371His Polymorphism rs1051460 - KIR2DS1 Q14954 VAR_010318 p.Arg91Lys Polymorphism rs687485 - KIR2DS1 Q14954 VAR_059419 p.Leu111Val Polymorphism rs687885 - KIR2DS2 P43631 VAR_020090 p.Lys237Glu Polymorphism rs2262065 - KIR2DS2 P43631 VAR_059420 p.Ala9Val Polymorphism rs3810343 - KIR2DS2 P43631 VAR_059421 p.Tyr66Phe Polymorphism rs673568 - KIR2DS2 P43631 VAR_059422 p.Lys254Asn Polymorphism rs1063326 - KIR2DS4 P43632 VAR_049980 p.Lys65Met Polymorphism rs1130480 - KIR2DS4 P43632 VAR_049981 p.Asn68Asp Polymorphism rs1130481 - KIR2DS4 P43632 VAR_049982 p.His71Arg Polymorphism rs1130482 - KIR2DS4 P43632 VAR_049983 p.Pro89Arg Polymorphism rs1130487 - KIR2DS4 P43632 VAR_049984 p.Pro92His Polymorphism rs1143508 - KIR2DS4 P43632 VAR_049985 p.Val93Asp Polymorphism rs1130491 - KIR2DS4 P43632 VAR_049986 p.Ser103Cys Polymorphism rs10406301 - KIR2DS4 P43632 VAR_059423 p.Asn178His Polymorphism rs4806591 - KIR2DS4 P43632 VAR_059424 p.Ala205Ser Polymorphism rs1049290 - KIR2DS4 P43632 VAR_059425 p.Lys254Asn Polymorphism rs1063326 - KIR3DL1 P43629 VAR_010319 p.Ser2Leu Polymorphism rs605219 - KIR3DL1 P43629 VAR_010320 p.Leu13Phe Polymorphism - - KIR3DL1 P43629 VAR_010321 p.Met23Val Polymorphism - - KIR3DL1 P43629 VAR_010322 p.Ile68Val Polymorphism rs45556431 - KIR3DL1 P43629 VAR_010323 p.Ile75Leu Polymorphism rs1049150 - KIR3DL1 P43629 VAR_010324 p.Ser333Cys Polymorphism - - KIR3DL1 P43629 VAR_010336 p.Gly259Arg Polymorphism rs1049215 - KIR3DL1 P43629 VAR_049987 p.Pro203Ser Polymorphism rs2273731 - KIR3DL1 P43629 VAR_049988 p.Pro220Leu Polymorphism rs680891 - KIR3DL1 P43629 VAR_049989 p.Leu362Arg Polymorphism rs1130468 - KIR3DL1 P43629 VAR_049990 p.Glu394Gln Polymorphism rs1130513 - KIR3DL2 P43630 VAR_010325 p.Pro40Ala Polymorphism - - KIR3DL2 P43630 VAR_010326 p.Leu113Val Polymorphism rs17412418 - KIR3DL2 P43630 VAR_010327 p.Glu158Asp Polymorphism rs1048270 - KIR3DL2 P43630 VAR_010328 p.Arg166His Polymorphism rs1048271 - KIR3DL2 P43630 VAR_010329 p.Ala228Pro Polymorphism - - KIR3DL2 P43630 VAR_010330 p.Ile252Thr Polymorphism - - KIR3DL2 P43630 VAR_049991 p.Pro132Thr Polymorphism rs3745894 - KIR3DL2 P43630 VAR_049992 p.Thr397Met Polymorphism rs3745902 - KIR3DL2 P43630 VAR_049993 p.Lys439Gln Polymorphism rs3745903 - KIR3DL3 Q8N743 VAR_019426 p.Val168Ile Polymorphism rs270790 - KIR3DL3 Q8N743 VAR_056092 p.Ala348Pro Polymorphism rs16985907 - KIR3DL3 Q8N743 VAR_060366 p.Val324Ala Polymorphism rs662386 - KIR3DL3 Q8N743 VAR_060610 p.Arg52His Polymorphism rs11575927 - KIR3DL3 Q8N743 VAR_060611 p.Asn56Lys Polymorphism - - KIR3DL3 Q8N743 VAR_060612 p.Arg77Trp Polymorphism rs2075732 - KIR3DL3 Q8N743 VAR_060613 p.Arg149Ser Polymorphism rs62132665 - KIR3DL3 Q8N743 VAR_060614 p.Arg152His Polymorphism - - KIR3DL3 Q8N743 VAR_060615 p.Gly231Asp Polymorphism - - KIR3DL3 Q8N743 VAR_060616 p.Asn290Thr Polymorphism rs2302422 - KIR3DL3 Q8N743 VAR_060617 p.His321Asn Polymorphism - - KIR3DL3 Q8N743 VAR_060618 p.His321Tyr Polymorphism rs602444 - KIR3DL3 Q8N743 VAR_060619 p.Val324Asp Polymorphism - - KIR3DL3 Q8N743 VAR_060620 p.Glu373Asp Polymorphism - - KIR3DP1 A8MWS1 VAR_059426 p.Lys160Thr Polymorphism rs17699088 - KIR3DP1 A8MWS1 VAR_059427 p.Glu258Asp Polymorphism rs597068 - KIR3DS1 Q14943 VAR_010377 p.Arg166His Polymorphism - - KIR3DS1 Q14943 VAR_056093 p.Ser2Leu Polymorphism rs605219 - KIR3DS1 Q14943 VAR_056094 p.Val68Ile Polymorphism rs45556431 - KIR3DS1 Q14943 VAR_056095 p.Pro203Ser Polymorphism rs2273731 - KIR3DS1 Q14943 VAR_056096 p.Leu220Pro Polymorphism rs680891 - KIR3DS1 Q14943 VAR_056097 p.Gly259Arg Polymorphism rs1049215 - KIRREL2 Q6UWL6 VAR_056098 p.Arg19Ser Polymorphism rs446014 - KIRREL2 Q6UWL6 VAR_056099 p.Ala170Thr Polymorphism rs404299 - KIRREL2 Q6UWL6 VAR_056100 p.Val353Met Polymorphism rs35423326 - KIRREL2 Q6UWL6 VAR_056101 p.Ser556Asn Polymorphism rs35775934 - KIRREL3 Q8IZU9 VAR_054828 p.Arg40Trp Disease - Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581] KIRREL3 Q8IZU9 VAR_054829 p.Arg336Gln Disease - Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581] KIRREL3 Q8IZU9 VAR_054830 p.Val731Phe Disease - Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581] KIRREL Q96J84 VAR_059428 p.Ala78Thr Polymorphism rs35927201 - KISS1 Q15726 VAR_021396 p.Glu20Lys Polymorphism rs12998 - KISS1 Q15726 VAR_021397 p.Gln36Arg Polymorphism rs35431622 - KISS1 Q15726 VAR_021398 p.Pro81Arg Polymorphism rs4889 - KISS1R Q969F8 VAR_021392 p.Leu148Ser Disease rs28939719 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_021393 p.Cys223Arg Disease - Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_021394 p.Arg297Leu Disease - Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_021395 p.Leu364His Polymorphism rs350132 - KISS1R Q969F8 VAR_043906 p.Leu102Pro Disease - Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] KISS1R Q969F8 VAR_043907 p.Arg386Pro Disease - Central precocious puberty (CEPREPU) [MIM:176400] KITLG P21583 VAR_042652 p.Thr54Ala Polymorphism rs3741457 - KITLG P21583 VAR_042653 p.Phe232Tyr Polymorphism rs12721563 - KITLG P21583 VAR_063237 p.Asn36Ser Disease - Familial progressive hyperpigmentation (FPH) [MIM:145250] KITLG P21583 VAR_063238 p.Asp210Tyr Polymorphism rs41283112 - KIT P10721 VAR_004104 p.Glu583Lys Disease - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004105 p.Phe584Leu Disease - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004106 p.Gly664Arg Disease - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004107 p.Arg791Gly Disease - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004108 p.Gly812Val Disease - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_004109 p.Asp816Val Unclassified - Mast cell leukemia KIT P10721 VAR_023828 p.Asp816Tyr Unclassified - Acute myeloid leukemia KIT P10721 VAR_023829 p.Asn822Lys Unclassified - A germ cell tumor of the testis KIT P10721 VAR_023830 p.Ala829Pro Unclassified - A germ cell tumor of the testis KIT P10721 VAR_033123 p.Lys550Ile Disease rs28933968 Gastrointestinal stromal tumor (GIST) [MIM:606764] KIT P10721 VAR_033126 p.Val559Ala Disease - Gastrointestinal stromal tumor (GIST) [MIM:606764] KIT P10721 VAR_033127 p.Val559Asp Disease - Gastrointestinal stromal tumor (GIST) [MIM:606764] KIT P10721 VAR_033129 p.Phe584Cys Disease rs28933371 Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_033130 p.Gly601Arg Disease - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_033131 p.Leu656Pro Disease - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_033132 p.Arg796Gly Disease - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_033133 p.Asp816Phe Unclassified - - KIT P10721 VAR_033134 p.Asp816His Unclassified rs28933969 A testicular tumor KIT P10721 VAR_033135 p.Asp820Gly Unclassified - - KIT P10721 VAR_033136 p.Glu839Lys Unclassified - - KIT P10721 VAR_033137 p.Thr847Pro Disease - Piebald trait (PBT) [MIM:172800] KIT P10721 VAR_042021 p.Val532Ile Polymorphism rs55792975 - KIT P10721 VAR_042022 p.Met541Leu Polymorphism rs3822214 - KIT P10721 VAR_042023 p.Cys691Ser Polymorphism rs35200131 - KIT P10721 VAR_042024 p.Ser715Asn Polymorphism rs56094246 - KIT P10721 VAR_042025 p.Asp737Asn Unclassified - A colorectal adenocarcinoma sample KIT P10721 VAR_042026 p.Arg804Trp Unclassified - A colorectal adenocarcinoma sample KIT P10721 VAR_061289 p.Met541Val Polymorphism rs3822214 - KLB Q86Z14 VAR_034053 p.Arg728Gln Polymorphism rs17618244 - KLB Q86Z14 VAR_034054 p.Ala747Val Polymorphism rs35372803 - KLB Q86Z14 VAR_034055 p.Gln1020Lys Polymorphism rs4975017 - KLB Q86Z14 VAR_049296 p.Tyr906His Polymorphism rs17618262 - KLB Q86Z14 VAR_061207 p.Pro65Ala Polymorphism rs34905034 - KLC2 Q9H0B6 VAR_020379 p.Pro517Ser Polymorphism rs2276036 - KLC4 Q9NSK0 VAR_049708 p.Arg72His Polymorphism rs11558979 - KLF10 Q13118 VAR_052716 p.Ser249Phe Polymorphism rs4734653 - KLF11 O14901 VAR_031522 p.Gln62Arg Polymorphism rs35927125 - KLF11 O14901 VAR_031523 p.Thr220Met Disease rs34336420 Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508] KLF11 O14901 VAR_031524 p.Ala347Ser Disease - Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508] KLF11 O14901 VAR_052717 p.Ser378Phe Polymorphism rs35476458 - KLF14 Q8TD94 VAR_052718 p.Ala173Pro Polymorphism rs35770036 - KLF17 Q5JT82 VAR_026198 p.Asn156Ser Polymorphism rs2485652 - KLF17 Q5JT82 VAR_052719 p.Ile35Asn Polymorphism rs11210969 - KLF17 Q5JT82 VAR_052720 p.Ser57Thr Polymorphism rs2429051 - KLF17 Q5JT82 VAR_052721 p.Gln80His Polymorphism rs6656945 - KLF1 Q13351 VAR_043981 p.Ser102Pro Polymorphism rs2072597 - KLF1 Q13351 VAR_043982 p.Phe182Leu Polymorphism rs2072596 - KLF1 Q13351 VAR_058108 p.His299Tyr Unclassified - - KLF1 Q13351 VAR_058109 p.Arg328His Unclassified - - KLF1 Q13351 VAR_058110 p.Arg328Leu Unclassified - - KLF1 Q13351 VAR_058111 p.Arg331Gly Unclassified - - KLF1 Q13351 VAR_064901 p.Glu325Lys Disease - Congenital dyserythropoietic anemia type 4 (CDA4) [MIM:613673] KLF2 Q9Y5W3 VAR_038830 p.Leu104Pro Polymorphism rs3745318 - KLF2 Q9Y5W3 VAR_038831 p.Arg145Pro Polymorphism rs45586032 - KLF3 P57682 VAR_052715 p.Arg207Ser Polymorphism rs17616226 - KLF4 O43474 VAR_059888 p.Thr315Ser Polymorphism rs1059913 - KLF4 O43474 VAR_059889 p.Leu321Phe Polymorphism rs1059914 - KLF5 Q13887 VAR_035555 p.Pro301Ser Unclassified - A colorectal cancer sample KLF6 Q99612 VAR_065136 p.Trp64Arg Unclassified - - KLF6 Q99612 VAR_065137 p.Ser116Pro Unclassified - - KLF6 Q99612 VAR_065138 p.Ala123Asp Unclassified - - KLF6 Q99612 VAR_065139 p.Ser155Arg Unclassified - - KLF6 Q99612 VAR_065140 p.Leu169Pro Unclassified - - KLF6 Q99612 VAR_065141 p.Pro172Thr Unclassified - - KLF6 Q99612 VAR_065142 p.Ser180Leu Unclassified - - KLF6 Q99612 VAR_065143 p.Arg198Lys Unclassified - - KLHDC10 Q6PID8 VAR_039005 p.Ser2Leu Polymorphism rs3734928 - KLHDC10 Q6PID8 VAR_039006 p.Asp183Gly Polymorphism rs17854337 - KLHDC10 Q6PID8 VAR_039007 p.Ile274Val Polymorphism rs17854336 - KLHDC10 Q6PID8 VAR_039008 p.Glu295Gly Polymorphism rs17857292 - KLHDC10 Q6PID8 VAR_039009 p.Leu437Ile Polymorphism rs10241894 - KLHDC4 Q8TBB5 VAR_033986 p.Leu56Val Polymorphism rs2303772 - KLHDC4 Q8TBB5 VAR_033987 p.Leu155Val Polymorphism rs3751727 - KLHDC4 Q8TBB5 VAR_050054 p.Thr102Ile Polymorphism rs2303771 - KLHDC4 Q8TBB5 VAR_061340 p.Gly130Val Polymorphism rs34779002 - KLHDC7A Q5VTJ3 VAR_031913 p.Thr147Pro Polymorphism rs2992752 - KLHDC7A Q5VTJ3 VAR_031914 p.His273Asn Polymorphism rs2992753 - KLHDC7A Q5VTJ3 VAR_056126 p.Val21Leu Polymorphism rs7512414 - KLHDC7A Q5VTJ3 VAR_056127 p.Arg194Pro Polymorphism rs7515150 - KLHDC7A Q5VTJ3 VAR_059441 p.Arg160Ser Polymorphism rs11261022 - KLHDC7A Q5VTJ3 VAR_059442 p.Thr351Pro Polymorphism rs2992752 - KLHDC7A Q5VTJ3 VAR_061341 p.Gly94Ser Polymorphism rs34976233 - KLHDC7A Q5VTJ3 VAR_061342 p.Pro141Arg Polymorphism rs2992755 - KLHDC9 Q8NEP7 VAR_034873 p.Ser171Arg Polymorphism rs11576830 - KLHDC9 Q8NEP7 VAR_034874 p.Asn288Ser Polymorphism rs1128750 - KLHDC9 Q8NEP7 VAR_050056 p.Ala282Thr Polymorphism rs1128750 - KLHL12 Q53G59 VAR_050049 p.Pro72Leu Polymorphism rs12569087 - KLHL13 Q9P2N7 VAR_064725 p.Phe223Ile Unclassified - - KLHL25 Q9H0H3 VAR_050041 p.Val250Ile Polymorphism rs35582838 - KLHL25 Q9H0H3 VAR_050042 p.Met257Leu Polymorphism rs36031133 - KLHL26 Q53HC5 VAR_026861 p.Val542Met Polymorphism rs17852384 - KLHL28 Q9NXS3 VAR_061339 p.Ile349Val Polymorphism rs35728857 - KLHL31 Q9H511 VAR_050050 p.Asn11Ser Polymorphism rs6908377 - KLHL31 Q9H511 VAR_050051 p.Val156Ile Polymorphism rs3799260 - KLHL31 Q9H511 VAR_050052 p.Ala508Thr Polymorphism rs3799261 - KLHL32 Q96NJ5 VAR_028279 p.Asn129Ser Polymorphism rs2294763 - KLHL32 Q96NJ5 VAR_028280 p.Asp146Gly Polymorphism rs12662753 - KLHL32 Q96NJ5 VAR_050053 p.Arg5Cys Polymorphism rs35143662 - KLHL33 A6NCF5 VAR_039878 p.Arg163His Polymorphism rs12587478 - KLHL33 A6NCF5 VAR_039879 p.Arg176Gln Polymorphism rs17242648 - KLHL33 A6NCF5 VAR_039880 p.Glu345Gly Polymorphism rs1953225 - KLHL33 A6NCF5 VAR_039881 p.Ala516Thr Polymorphism rs7145318 - KLHL38 Q2WGJ6 VAR_059437 p.Gly310Ser Polymorphism rs16898693 - KLHL38 Q2WGJ6 VAR_059438 p.Asn352Tyr Polymorphism rs11784175 - KLHL38 Q2WGJ6 VAR_059439 p.Gly394Arg Polymorphism rs16898691 - KLHL38 Q2WGJ6 VAR_059440 p.Cys504Tyr Polymorphism rs11779866 - KLHL38 Q2WGJ6 VAR_060485 p.Ile334Val Polymorphism rs11784192 - KLHL38 Q2WGJ6 VAR_060486 p.Arg346Lys Polymorphism rs11780509 - KLHL40 Q2TBA0 VAR_030214 p.Asn345Ser Polymorphism rs6805421 - KLHL40 Q2TBA0 VAR_030215 p.Cys617Arg Polymorphism rs123509 - KLHL41 O60662 VAR_050046 p.Ala271Thr Polymorphism rs28763868 - KLHL41 O60662 VAR_050047 p.Met481Val Polymorphism rs34623017 - KLHL5 Q96PQ7 VAR_033985 p.Gly508Ser Polymorphism rs34646863 - KLHL5 Q96PQ7 VAR_050048 p.Ile10Leu Polymorphism rs2711941 - KLHL6 Q8WZ60 VAR_056125 p.Ile518Val Polymorphism rs35354575 - KLHL7 Q8IXQ5 VAR_060672 p.Ser150Asn Disease - Retinitis pigmentosa type 42 (RP42) [MIM:612943] KLHL7 Q8IXQ5 VAR_060673 p.Ala153Thr Disease - Retinitis pigmentosa type 42 (RP42) [MIM:612943] KLHL7 Q8IXQ5 VAR_060674 p.Ala153Val Disease - Retinitis pigmentosa type 42 (RP42) [MIM:612943] KLHL7 Q8IXQ5 VAR_060675 p.Asp255Asn Unclassified - - KLHL7 Q8IXQ5 VAR_060676 p.His423Tyr Polymorphism - - KLHL7 Q8IXQ5 VAR_060677 p.Lys472Gln Unclassified - - KLHL8 Q9P2G9 VAR_030012 p.Pro520Arg Polymorphism rs17854114 - KLK10 O43240 VAR_027979 p.Ser50Ala Polymorphism rs3745535 - KLK10 O43240 VAR_027980 p.Leu149Pro Polymorphism rs2075690 - KLK11 Q9UBX7 VAR_021943 p.Gly49Glu Polymorphism rs3745539 - KLK11 Q9UBX7 VAR_024296 p.Arg166Cys Polymorphism rs1048328 - KLK11 Q9UBX7 VAR_051856 p.Ala32Thr Polymorphism rs2288892 - KLK13 Q9UKR3 VAR_051857 p.His109Tyr Polymorphism rs34089525 - KLK14 Q9P0G3 VAR_058018 p.Gln33Arg Polymorphism rs35287116 - KLK14 Q9P0G3 VAR_058019 p.His45Tyr Polymorphism rs2569491 - KLK14 Q9P0G3 VAR_058020 p.Arg64His Polymorphism rs2569490 - KLK15 Q9H2R5 VAR_020179 p.Pro134Leu Polymorphism rs3212805 - KLK15 Q9H2R5 VAR_036298 p.Ala137Thr Unclassified - A breast cancer sample KLK1 P06870 VAR_006625 p.Glu145Gln Polymorphism rs5516 - KLK1 P06870 VAR_006626 p.Lys186Glu Polymorphism rs5517 - KLK1 P06870 VAR_014567 p.Arg77His Polymorphism rs5515 - KLK1 P06870 VAR_014568 p.Val193Glu Polymorphism rs5518 - KLK2 P20151 VAR_014164 p.Val18Leu Polymorphism rs6072 - KLK2 P20151 VAR_020178 p.Arg250Trp Polymorphism rs198977 - KLK2 P20151 VAR_061775 p.Asp255Ala Polymorphism rs60268688 - KLK3 P07288 VAR_021941 p.Glu32Lys Polymorphism rs2271092 - KLK3 P07288 VAR_021942 p.Leu132Ile Polymorphism rs2003783 - KLK3 P07288 VAR_051852 p.Ile179Thr Polymorphism rs17632542 - KLK4 Q9Y5K2 VAR_028364 p.Ser22Ala Polymorphism rs1654551 - KLK4 Q9Y5K2 VAR_028365 p.His197Gln Polymorphism rs2569527 - KLK4 Q9Y5K2 VAR_033009 p.Gly159Asp Polymorphism rs34626614 - KLK5 Q9Y337 VAR_051853 p.Gly55Arg Polymorphism rs2232532 - KLK5 Q9Y337 VAR_051854 p.Asn153Asp Polymorphism rs183854 - KLK6 Q92876 VAR_061776 p.Arg78Trp Polymorphism rs61469141 - KLK8 O60259 VAR_051855 p.Val154Ile Polymorphism rs16988799 - KLKB1 P03952 VAR_013598 p.Asn143Ser Disease rs3733402 Prekallikrein deficiency (PKK deficiency) [MIM:612423] KLKB1 P03952 VAR_013599 p.His202Gln Polymorphism rs4253373 - KLKB1 P03952 VAR_013600 p.His208Pro Polymorphism - - KLKB1 P03952 VAR_016280 p.Ala178Thr Polymorphism rs4253257 - KLKB1 P03952 VAR_016281 p.Ser269Cys Polymorphism rs4253376 - KLKB1 P03952 VAR_016282 p.Phe311Val Polymorphism rs4253377 - KLKB1 P03952 VAR_016283 p.Thr358Ala Polymorphism rs4253379 - KLKB1 P03952 VAR_016284 p.Ser381Ala Polymorphism rs4253301 - KLKB1 P03952 VAR_016285 p.Gln442Pro Polymorphism rs4253316 - KLKB1 P03952 VAR_016286 p.Arg560Gln Polymorphism rs4253325 - KLKB1 P03952 VAR_020180 p.Ala210Glu Polymorphism rs2278542 - KLKB1 P03952 VAR_054907 p.Gly123Arg Disease - Prekallikrein deficiency (PKK deficiency) [MIM:612423] KLKB1 P03952 VAR_054908 p.Cys548Tyr Disease - Prekallikrein deficiency (PKK deficiency) [MIM:612423] KL Q9UEF7 VAR_023582 p.Pro15Gln Polymorphism rs1052018 - KL Q9UEF7 VAR_023583 p.Phe45Val Polymorphism rs1052019 - KL Q9UEF7 VAR_023584 p.Phe352Val Polymorphism rs9536314 - KL Q9UEF7 VAR_023585 p.Cys370Ser Polymorphism rs9527025 - KL Q9UEF7 VAR_036449 p.Pro954Leu Unclassified - A colorectal cancer sample KL Q9UEF7 VAR_049295 p.Pro514Ser Polymorphism rs3752472 - KL Q9UEF7 VAR_064554 p.His193Arg Disease - Hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900] KLRB1 Q12918 VAR_028981 p.Ile168Thr Polymorphism rs1135816 - KLRC1 P26715 VAR_050120 p.Asn29Ser Polymorphism rs2253849 - KLRC2 P26717 VAR_013404 p.Ser2Asn Polymorphism rs28403159 - KLRC2 P26717 VAR_013405 p.Ser102Phe Polymorphism - - KLRC3 Q07444 VAR_013296 p.Trp19Pro Polymorphism - - KLRC3 Q07444 VAR_014660 p.Arg135Ser Polymorphism rs1138437 - KLRC3 Q07444 VAR_062954 p.Ser2Asn Polymorphism rs2682489 - KLRC3 Q07444 VAR_062955 p.His113Pro Polymorphism rs2682494 - KLRC3 Q07444 VAR_062956 p.Cys155Ser Polymorphism rs2682495 - KLRC3 Q07444 VAR_063132 p.Trp19Arg Polymorphism - - KLRC3 Q07444 VAR_063133 p.Ala106Thr Polymorphism rs28626640 - KLRC4 O43908 VAR_013406 p.Ile29Ser Polymorphism rs1841958 - KLRC4 O43908 VAR_013407 p.Asn104Ser Polymorphism rs2617170 - KLRD1 Q13241 VAR_050103 p.Ser25Ala Polymorphism rs10772256 - KLRF1 Q9NZS2 VAR_047544 p.Leu67Phe Polymorphism rs2232548 - KLRG1 Q96E93 VAR_042750 p.Trp58Arg Polymorphism rs1805749 - KLRG2 A4D1S0 VAR_038396 p.Lys152Thr Polymorphism rs1860150 - KLRG2 A4D1S0 VAR_038397 p.Gly339Ala Polymorphism rs17160911 - KLRK1 P26718 VAR_013295 p.Ala72Thr Polymorphism rs2255336 - KLRK1 P26718 VAR_030738 p.Asn177Ser Polymorphism rs2306182 - KMO O15229 VAR_030845 p.Arg452Cys Polymorphism rs1053230 - KNDC1 Q76NI1 VAR_035358 p.Glu436Gly Polymorphism rs3810964 - KNDC1 Q76NI1 VAR_035359 p.Gly581Ser Polymorphism rs35152544 - KNDC1 Q76NI1 VAR_035360 p.Leu717Pro Polymorphism rs2998139 - KNDC1 Q76NI1 VAR_051902 p.Ala1332Thr Polymorphism rs11101642 - KNDC1 Q76NI1 VAR_061786 p.Arg1038Trp Polymorphism rs35604376 - KNG1 P01042 VAR_019277 p.Gly163Ser Polymorphism rs5030015 - KNG1 P01042 VAR_019278 p.Met178Thr Polymorphism rs1656922 - KNG1 P01042 VAR_019279 p.Leu212Pro Polymorphism rs5030024 - KNG1 P01042 VAR_028937 p.Ile197Met Polymorphism rs2304456 - KNG1 P01042 VAR_048853 p.Asp430Glu Polymorphism rs5030084 - KNG1 P01042 VAR_048854 p.Ile581Thr Polymorphism rs710446 - KNG1 P01042 VAR_048855 p.Gly642Ala Polymorphism rs5030087 - KNSTRN Q9Y448 VAR_030304 p.Ala40Glu Polymorphism rs7164132 - KNSTRN Q9Y448 VAR_030305 p.Arg75Leu Polymorphism rs7169404 - KNSTRN Q9Y448 VAR_030306 p.Pro92Ser Polymorphism rs7169262 - KNTC1 P50748 VAR_051082 p.Lys245Asn Polymorphism rs7968222 - KNTC1 P50748 VAR_051083 p.Glu738Asp Polymorphism rs17883249 - KNTC1 P50748 VAR_051084 p.Thr1506Met Polymorphism rs35315099 - KNTC1 P50748 VAR_051085 p.Pro1830Leu Polymorphism rs7310898 - KNTC1 P50748 VAR_051086 p.Val2021Gly Polymorphism rs11837038 - KPNA1 P52294 VAR_050002 p.Ser73Asn Polymorphism rs4678193 - KPNA2 P52292 VAR_013137 p.Pro165Arg Polymorphism rs11545989 - KPNA2 P52292 VAR_014453 p.Thr430Pro Polymorphism rs1059538 - KPNA3 O00505 VAR_014454 p.Pro291Ser Polymorphism rs1043015 - KPNA5 O15131 VAR_036245 p.Phe45Leu Unclassified - A breast cancer sample KPNA5 O15131 VAR_036246 p.Arg316Ser Unclassified - A breast cancer sample KPRP Q5T749 VAR_029840 p.Gln14His Polymorphism rs17612167 - KPRP Q5T749 VAR_029841 p.Val37Ala Polymorphism rs944683 - KPRP Q5T749 VAR_029842 p.Cys113Arg Polymorphism rs16834457 - KPRP Q5T749 VAR_029843 p.Arg168His Polymorphism rs16834461 - KPRP Q5T749 VAR_029844 p.Cys413Ser Polymorphism rs4329520 - KPRP Q5T749 VAR_029845 p.Pro532Thr Polymorphism rs6703294 - KRAS P01116 VAR_006839 p.Gly12Cys Unclassified - Lung carcinoma KRAS P01116 VAR_006840 p.Gly12Val Disease - Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_006840 p.Gly12Val Unclassified - Lung carcinoma KRAS P01116 VAR_006841 p.Gln61His Unclassified rs17851045 Lung carcinoma KRAS P01116 VAR_016026 p.Gly12Asp Disease - Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_016026 p.Gly12Asp Unclassified - Pancreatic carcinoma KRAS P01116 VAR_016027 p.Gly12Arg Unclassified - Lung cancer KRAS P01116 VAR_016028 p.Gly12Ser Disease - Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_016028 p.Gly12Ser Unclassified - Lung carcinoma KRAS P01116 VAR_016029 p.Gly13Asp Unclassified - A breast carcinoma cell line KRAS P01116 VAR_016029 p.Gly13Asp Disease - Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_016030 p.Ala59Thr Unclassified - Bladder cancer KRAS P01116 VAR_016030 p.Ala59Thr Disease - Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_026109 p.Val14Ile Disease - Noonan syndrome type 3 (NS3) [MIM:609942] KRAS P01116 VAR_026110 p.Pro34Arg Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] KRAS P01116 VAR_026111 p.Thr58Ile Disease - Noonan syndrome type 3 (NS3) [MIM:609942] KRAS P01116 VAR_026112 p.Gly60Arg Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] KRAS P01116 VAR_036305 p.Gly12Ala Unclassified - A colorectal cancer sample KRAS P01116 VAR_036306 p.Gln61Arg Unclassified - A colorectal cancer sample KRAS P01116 VAR_036307 p.Lys117Asn Unclassified - A colorectal cancer sample KRAS P01116 VAR_036308 p.Ala146Thr Unclassified - A colorectal cancer sample KRAS P01116 VAR_064849 p.Lys5Asn Disease - Gastric cancer (GASC) [MIM:613659] KRAS P01116 VAR_064850 p.Gln22Glu Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] KRAS P01116 VAR_064851 p.Gln22Arg Disease - Noonan syndrome type 3 (NS3) [MIM:609942] KRAS P01116 VAR_064852 p.Pro34Leu Disease - Noonan syndrome type 3 (NS3) [MIM:609942] KRAS P01116 VAR_064853 p.Pro34Gln Disease - Noonan syndrome type 3 (NS3) [MIM:609942] KRAS P01116 VAR_064854 p.Ile36Met Disease - Noonan syndrome type 3 (NS3) [MIM:609942] KRAS P01116 VAR_065144 p.Lys5Glu Disease - Noonan syndrome type 3 (NS3) [MIM:609942] KRAS P01116 VAR_065145 p.Gly13Arg Disease - Pylocytic astrocytoma (PA) KRAS P01116 VAR_065146 p.Gly60Ser Disease - Noonan syndrome type 3 (NS3) [MIM:609942] KRBA1 A5PL33 VAR_056922 p.His320Arg Polymorphism rs7791608 - KRBA2 Q6ZNG9 VAR_051087 p.Thr435Met Polymorphism rs370752 - KREMEN2 Q8NCW0 VAR_059691 p.Ala408Pro Polymorphism rs11866302 - KRI1 Q8N9T8 VAR_034750 p.Thr5Ala Polymorphism rs3218222 - KRI1 Q8N9T8 VAR_034751 p.Gly144Arg Polymorphism rs12984043 - KRI1 Q8N9T8 VAR_034752 p.Glu185Ala Polymorphism rs11545166 - KRI1 Q8N9T8 VAR_034753 p.Glu272Lys Polymorphism rs3745249 - KRI1 Q8N9T8 VAR_034754 p.Ser315Leu Polymorphism rs34743532 - KRI1 Q8N9T8 VAR_034755 p.Arg342Trp Polymorphism rs33999611 - KRI1 Q8N9T8 VAR_034756 p.Glu355Gln Polymorphism rs3826709 - KRI1 Q8N9T8 VAR_034757 p.Leu451Pro Polymorphism rs1982074 - KRI1 Q8N9T8 VAR_034758 p.Ser709Pro Polymorphism rs3087689 - KRIT1 O00522 VAR_023573 p.Phe97Ser Disease - Cerebral cavernous malformations type 1 (CCM1) [MIM:116860] KRIT1 O00522 VAR_023574 p.Lys569Glu Disease - Cerebral cavernous malformations type 1 (CCM1) [MIM:116860] KRR1 Q13601 VAR_049680 p.Arg134Gln Polymorphism rs11540407 - KRT10 P13645 VAR_003826 p.Asn154His Disease rs57784225 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_003827 p.Arg156His Disease rs58075662 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_003828 p.Arg156Cys Disease - Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_003829 p.Arg156Pro Disease - Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_003830 p.Arg156Ser Disease rs58852768 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_003831 p.Tyr160Asp Disease rs58414354 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_003832 p.Leu161Ser Disease rs60118264 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_003833 p.Leu442Gln Disease rs58026994 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_010505 p.Gly126Ser Polymorphism - - KRT10 P13645 VAR_010506 p.Met150Arg Disease rs58901407 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_010507 p.Met150Thr Unclassified - - KRT10 P13645 VAR_010508 p.Tyr160Asn Disease - Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_010509 p.Tyr160Ser Disease rs58735429 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_010510 p.Lys439Glu Disease rs61434181 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10 P13645 VAR_010511 p.Ile446Thr Disease - Ichthyosis annular epidermolytic (AEI) [MIM:607602] KRT10 P13645 VAR_033145 p.Arg422Glu Disease rs59075499 Ichthyosis annular epidermolytic (AEI) [MIM:607602] KRT10 P13645 VAR_058202 p.Ile101Ser Polymorphism rs4261597 - KRT10 P13645 VAR_060723 p.His487Tyr Polymorphism - - KRT12 Q99456 VAR_003834 p.Arg135Thr Disease rs57218384 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_003835 p.Val143Leu Disease rs58343600 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_008525 p.Arg135Ile Disease - Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_008526 p.Arg135Gly Disease rs58410481 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_008527 p.Leu140Arg Disease rs58918655 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_008528 p.Tyr429Asp Disease rs58162394 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_009547 p.Arg20Trp Polymorphism rs17566772 - KRT12 Q99456 VAR_013126 p.Met129Thr Disease rs28936695 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_013127 p.Gln130Pro Disease rs58864803 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_031394 p.Arg135Ser Disease rs61282718 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_031395 p.Ala137Pro Disease rs58038639 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_031397 p.Ile426Ser Disease rs59350319 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_031398 p.Tyr429Cys Disease rs59202432 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT12 Q99456 VAR_049783 p.Pro15Ser Polymorphism rs11650915 - KRT13 P13646 VAR_003836 p.Leu119Pro Disease - White sponge nevus of cannon (WSN) [MIM:193900] KRT13 P13646 VAR_016035 p.Met108Thr Disease - White sponge nevus of cannon (WSN) [MIM:193900] KRT13 P13646 VAR_016036 p.Asn112Ser Disease - White sponge nevus of cannon (WSN) [MIM:193900] KRT13 P13646 VAR_016037 p.Leu115Pro Disease - White sponge nevus of cannon (WSN) [MIM:193900] KRT13 P13646 VAR_023924 p.Leu111Pro Disease - White sponge nevus of cannon (WSN) [MIM:193900] KRT13 P13646 VAR_024488 p.Ala146Gly Polymorphism rs760134 - KRT13 P13646 VAR_059376 p.Phe81Tyr Polymorphism rs12150581 - KRT13 P13646 VAR_059377 p.Thr298Ala Polymorphism rs4796697 - KRT13 P13646 VAR_060724 p.Ala187Val Polymorphism rs9891361 - KRT14 P02533 VAR_003837 p.Arg125Cys Disease rs60399023 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_003838 p.Arg125His Disease rs58330629 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_003839 p.Glu144Ala Disease rs57121345 Epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001] KRT14 P02533 VAR_003840 p.Val270Met Disease rs58560979 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_003841 p.Met272Arg Disease rs61371557 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_003843 p.Leu384Pro Disease rs59629244 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_003844 p.Tyr415His Disease - Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_003845 p.Leu419Gln Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_010437 p.Ala94Thr Polymorphism rs3826550 - KRT14 P02533 VAR_010438 p.Lys116Asn Disease rs59271739 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_010439 p.Met119Ile Polymorphism rs57358989 - KRT14 P02533 VAR_010440 p.Met119Thr Disease rs28928893 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_010441 p.Gln120Arg Disease rs60993843 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_010442 p.Leu122Phe Disease rs59110575 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_010442 p.Leu122Phe Disease rs59110575 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_010443 p.Asn123Ser Disease rs60171927 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_010444 p.Arg125Ser Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_010445 p.Tyr129Asp Disease rs60470268 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_010446 p.Leu143Pro Disease rs61326242 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_010447 p.Ala247Asp Disease - Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_010448 p.Asp273Gly Disease rs59375065 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_010449 p.Ala274Asp Disease rs58785777 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_010450 p.Ile377Asn Disease rs61536893 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_010451 p.Arg388Cys Disease rs59966597 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_010452 p.Glu422Lys Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_023719 p.Met119Val Disease rs61263401 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_023719 p.Met119Val Disease rs61263401 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_023720 p.Asn123Lys Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_023721 p.Arg125Gly Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_023722 p.Leu130Pro Disease rs57522245 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_023723 p.Val133Leu Disease rs61027685 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_023723 p.Val133Leu Disease rs61027685 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_023724 p.Leu408Met Disease rs57200223 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_023725 p.Ala413Thr Disease rs59780231 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_027718 p.Arg211Pro Disease rs60589227 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_027719 p.Met272Thr Disease - Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_027721 p.Arg417Pro Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_031635 p.Arg134Pro Disease rs61540016 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT14 P02533 VAR_031636 p.Arg148Cys Disease rs58378809 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_031637 p.Arg388His Disease rs58645163 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_031638 p.Tyr415Cys Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14 P02533 VAR_031639 p.Arg416Pro Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT14 P02533 VAR_033496 p.Val133Ala Polymorphism rs642601 - KRT14 P02533 VAR_049784 p.Glu215Lys Polymorphism rs11551755 - KRT14 P02533 VAR_055347 p.Cys63Tyr Polymorphism rs6503640 - KRT15 P19012 VAR_047429 p.Thr147Ala Polymorphism rs1050784 - KRT15 P19012 VAR_047430 p.Lys416Arg Polymorphism rs2305556 - KRT15 P19012 VAR_047431 p.Ala421Gly Polymorphism rs897420 - KRT16 P08779 VAR_003846 p.Leu132Pro Disease rs60944949 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT16 P08779 VAR_009183 p.Asn125Ser Disease rs60723330 Palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000] KRT16 P08779 VAR_009184 p.Arg127Cys Disease rs59856285 Palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000] KRT16 P08779 VAR_012855 p.Gln122Pro Disease rs59349773 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT16 P08779 VAR_012856 p.Arg127Pro Disease rs57424749 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT16 P08779 VAR_013837 p.Leu124Arg Disease rs58293603 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT16 P08779 VAR_017065 p.Met121Thr Disease rs28928894 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT16 P08779 VAR_017066 p.Leu128Gln Disease rs28928895 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT16 P08779 VAR_017067 p.Lys354Asn Disease rs59328451 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT17 Q04695 VAR_003847 p.Asn92Asp Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_003848 p.Asn92His Disease - Steatocystoma multiplex (SM) [MIM:184500] KRT17 Q04695 VAR_003849 p.Asn92Ser Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_003850 p.Arg94His Disease - Steatocystoma multiplex (SM) [MIM:184500] KRT17 Q04695 VAR_003851 p.Tyr98Asp Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_010512 p.Met88Thr Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_010512 p.Met88Thr Disease - Steatocystoma multiplex (SM) [MIM:184500] KRT17 Q04695 VAR_010513 p.Arg94Cys Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_010513 p.Arg94Cys Disease - Steatocystoma multiplex (SM) [MIM:184500] KRT17 Q04695 VAR_017068 p.Arg94Pro Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_017070 p.Leu95Gln Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_017071 p.Leu95Pro Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_017073 p.Leu99Pro Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_017074 p.Val102Met Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT17 Q04695 VAR_037083 p.Asn109Asp Disease - Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT18 P05783 VAR_003852 p.His128Leu Disease rs57758506 Cirrhosis (CIRRH) [MIM:215600] KRT18 P05783 VAR_023054 p.Thr103Ala Disease rs61136606 Cirrhosis (CIRRH) [MIM:215600] KRT18 P05783 VAR_023055 p.Ser230Thr Polymorphism - - KRT18 P05783 VAR_023056 p.Arg261Gln Disease - Cirrhosis (CIRRH) [MIM:215600] KRT18 P05783 VAR_023057 p.Gly340Arg Disease - Cirrhosis (CIRRH) [MIM:215600] KRT19 P08727 VAR_014629 p.Ala60Gly Polymorphism rs4602 - KRT1 P04264 VAR_003853 p.Val155Gly Disease rs57959072 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_003854 p.Leu161Pro Disease rs57695159 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_003855 p.Ser186Pro Disease rs60022878 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_003856 p.Asn188Ser Disease rs58928370 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_003857 p.Ser193Pro Disease rs60937700 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_003858 p.Ile312Val Polymorphism - - KRT1 P04264 VAR_003859 p.Ile330Thr Polymorphism - - KRT1 P04264 VAR_003860 p.Tyr358Asn Polymorphism rs1050872 - KRT1 P04264 VAR_003861 p.Glu490Gln Disease rs60279707 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_003862 p.Gly537Cys Polymorphism - - KRT1 P04264 VAR_003863 p.Lys633Arg Polymorphism rs14024 - KRT1 P04264 VAR_017819 p.Lys74Ile Disease rs57977969 Palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962] KRT1 P04264 VAR_017820 p.Val155Asp Disease - Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_017821 p.Asn188Lys Disease rs59429455 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_017822 p.Asn188Thr Disease - Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_017823 p.Leu214Pro Disease rs61549035 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_017824 p.Asp340Val Disease rs58062863 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_017825 p.Ile479Phe Disease rs61218439 Ichthyosis annular epidermolytic (AEI) [MIM:607602] KRT1 P04264 VAR_017826 p.Ile479Thr Disease rs57837128 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_017826 p.Ile479Thr Disease rs57837128 Ichthyosis annular epidermolytic (AEI) [MIM:607602] KRT1 P04264 VAR_017827 p.Tyr482Cys Disease rs58420087 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_017828 p.Leu486Pro Disease rs56914602 Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT1 P04264 VAR_038628 p.Ala454Ser Polymorphism rs17678945 - KRT20 P35900 VAR_024489 p.Ser129Asn Polymorphism rs7212483 - KRT20 P35900 VAR_036367 p.Ser4Arg Unclassified - A colorectal cancer sample KRT20 P35900 VAR_064726 p.Gly214Cys Unclassified - - KRT23 Q9C075 VAR_031608 p.Thr303Ala Polymorphism rs9257 - KRT23 Q9C075 VAR_049785 p.Ser393Phe Polymorphism rs17856805 - KRT24 Q2M2I5 VAR_038068 p.Ala115Thr Polymorphism rs9914185 - KRT24 Q2M2I5 VAR_038069 p.Gly250Asp Polymorphism rs7211480 - KRT24 Q2M2I5 VAR_038070 p.Met267Ile Polymorphism rs874889 - KRT24 Q2M2I5 VAR_038071 p.Arg366Cys Polymorphism rs16966138 - KRT24 Q2M2I5 VAR_038072 p.Cys415Tyr Polymorphism rs12945784 - KRT24 Q2M2I5 VAR_038073 p.Trp418Arg Polymorphism rs12946793 - KRT24 Q2M2I5 VAR_038074 p.Lys429Glu Polymorphism rs2462961 - KRT25 Q7Z3Z0 VAR_049786 p.Ser54Leu Polymorphism rs12951399 - KRT26 Q7Z3Y9 VAR_056006 p.Trp118Arg Polymorphism rs9898164 - KRT27 Q7Z3Y8 VAR_056007 p.Gly193Ser Polymorphism rs17558560 - KRT27 Q7Z3Y8 VAR_056008 p.Ala284Thr Polymorphism rs17558532 - KRT27 Q7Z3Y8 VAR_063138 p.Ser52Thr Polymorphism rs2469826 - KRT27 Q7Z3Y8 VAR_063139 p.Glu144Lys Polymorphism rs12453124 - KRT27 Q7Z3Y8 VAR_063140 p.Ile305Thr Polymorphism rs981684 - KRT28 Q7Z3Y7 VAR_056009 p.Gly52Asp Polymorphism rs7209228 - KRT28 Q7Z3Y7 VAR_056010 p.Ala286Thr Polymorphism rs17558995 - KRT28 Q7Z3Y7 VAR_060236 p.Ala62Val Polymorphism rs4624233 - KRT2 P35908 VAR_003865 p.Gln181Pro Disease - Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_003866 p.Glu487Asp Disease rs61726450 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_003867 p.Glu487Lys Disease rs61726449 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_009185 p.Asn186Tyr Disease rs61726454 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_009186 p.Glu476Lys Disease rs56829062 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_009187 p.Thr479Pro Disease rs61726453 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_010514 p.Ile182Asn Disease rs61622714 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_010515 p.Asn186Asp Disease - Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_010516 p.Leu484Pro Disease rs61726451 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_017829 p.Asn186Lys Disease rs61726457 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031082 p.Glu465Asp Disease - Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031083 p.Glu465Lys Disease - Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031084 p.Glu476Val Disease rs60537449 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031085 p.Ile477Asn Disease - Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_031086 p.Glu488Lys Disease rs61726452 Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2 P35908 VAR_058293 p.Ser101Gly Polymorphism rs2634041 - KRT2 P35908 VAR_058294 p.Gly219Asp Polymorphism rs638043 - KRT31 Q15323 VAR_046989 p.Ala39Gly Polymorphism rs6503628 - KRT31 Q15323 VAR_046990 p.Ala82Val Polymorphism rs6503627 - KRT31 Q15323 VAR_046991 p.Ala377Val Polymorphism rs34293483 - KRT32 Q14532 VAR_056011 p.Gln72Arg Polymorphism rs3744786 - KRT32 Q14532 VAR_056012 p.Ile171Thr Polymorphism rs2071560 - KRT32 Q14532 VAR_056013 p.Ser222Tyr Polymorphism rs2071561 - KRT32 Q14532 VAR_056014 p.Thr339Met Polymorphism rs16966929 - KRT32 Q14532 VAR_056015 p.Thr395Met Polymorphism rs2071563 - KRT32 Q14532 VAR_056016 p.Arg428Cys Polymorphism rs9893787 - KRT32 Q14532 VAR_060237 p.Glu151Asp Polymorphism rs1111168 - KRT32 Q14532 VAR_060238 p.Arg280His Polymorphism rs72830046 - KRT32 Q14532 VAR_060239 p.Asn402Ser Polymorphism rs2604955 - KRT32 Q14532 VAR_060240 p.Pro427Thr Polymorphism rs2604953 - KRT33A O76009 VAR_054432 p.Ala270Val Polymorphism rs12937519 - KRT34 O76011 VAR_056017 p.Ile280Thr Polymorphism rs2239710 - KRT34 O76011 VAR_056018 p.His348Arg Polymorphism rs2071599 - KRT35 Q92764 VAR_056019 p.Ser36Pro Polymorphism rs743686 - KRT35 Q92764 VAR_056020 p.Cys441Tyr Polymorphism rs12451652 - KRT35 Q92764 VAR_056021 p.Pro443Ala Polymorphism rs2071601 - KRT36 O76013 VAR_020306 p.Thr315Met Polymorphism rs2301354 - KRT36 O76013 VAR_024490 p.Ala119Val Polymorphism rs8082683 - KRT36 O76013 VAR_024491 p.Gln126Arg Polymorphism rs8069943 - KRT36 O76013 VAR_049792 p.Arg179Gln Polymorphism rs9675246 - KRT36 O76013 VAR_049793 p.Arg277Cys Polymorphism rs9904102 - KRT36 O76013 VAR_049794 p.Asn357Thr Polymorphism rs11657323 - KRT37 O76014 VAR_049795 p.Gly13Cys Polymorphism rs9910204 - KRT37 O76014 VAR_049796 p.Asn39Ser Polymorphism rs9916724 - KRT37 O76014 VAR_049797 p.Thr72Ala Polymorphism rs9916484 - KRT37 O76014 VAR_049798 p.Ser73Cys Polymorphism rs9916475 - KRT37 O76014 VAR_049799 p.Ala217Val Polymorphism rs16966811 - KRT37 O76014 VAR_049800 p.Ala306Asp Polymorphism rs2071607 - KRT37 O76014 VAR_049801 p.Ser421Phe Polymorphism rs35371972 - KRT37 O76014 VAR_049802 p.Thr422Met Polymorphism rs8071814 - KRT37 O76014 VAR_049803 p.Pro434Ser Polymorphism rs17737019 - KRT38 O76015 VAR_055137 p.Ser423Pro Polymorphism rs897416 - KRT39 Q6A163 VAR_038075 p.Thr341Met Polymorphism rs17843021 - KRT39 Q6A163 VAR_038076 p.Leu383Met Polymorphism rs17843023 - KRT39 Q6A163 VAR_038077 p.Arg456Gln Polymorphism rs7213256 - KRT3 P12035 VAR_003868 p.Glu509Lys Disease rs57872071 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT3 P12035 VAR_031327 p.Arg503Pro Disease rs60410063 Meesmann corneal dystrophy (MECD) [MIM:122100] KRT3 P12035 VAR_056023 p.Arg375Gly Polymorphism rs3887954 - KRT3 P12035 VAR_061297 p.Gly44Ala Polymorphism rs28721426 - KRT40 Q6A162 VAR_038078 p.Thr37Ala Polymorphism rs1510069 - KRT40 Q6A162 VAR_038079 p.Phe85Ser Polymorphism rs17843015 - KRT40 Q6A162 VAR_038080 p.Ser102Asn Polymorphism rs1510068 - KRT40 Q6A162 VAR_038081 p.Thr153Met Polymorphism rs9908304 - KRT40 Q6A162 VAR_049787 p.Arg235His Polymorphism rs2010027 - KRT40 Q6A162 VAR_049788 p.Cys265Tyr Polymorphism rs721957 - KRT40 Q6A162 VAR_049789 p.Glu286Asp Polymorphism rs721958 - KRT40 Q6A162 VAR_049790 p.Met303Thr Polymorphism rs9908389 - KRT40 Q6A162 VAR_049791 p.Ser406Leu Polymorphism rs16968862 - KRT4 P19013 VAR_003869 p.Ala72Val Polymorphism - - KRT4 P19013 VAR_016038 p.Glu449Lys Disease - White sponge nevus of cannon (WSN) [MIM:193900] KRT5 P13647 VAR_003871 p.Gly138Glu Polymorphism rs11170164 - KRT5 P13647 VAR_003872 p.Ile161Ser Disease rs58058996 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_003873 p.Asn193Lys Disease rs60586163 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_003873 p.Asn193Lys Disease rs60586163 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_003874 p.Met327Thr Disease rs58072617 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_003875 p.Arg331Cys Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_003876 p.Leu463Pro Disease - Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_003877 p.Glu475Gly Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_010453 p.Pro25Leu Disease rs57499817 Epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) [MIM:131960] KRT5 P13647 VAR_010454 p.Pro152Leu Disease rs60617604 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_010455 p.Lys173Asn Disease rs58163069 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_010456 p.Leu175Phe Disease rs57890479 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_010457 p.Asn176Ser Disease rs59092197 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_010458 p.Phe179Ser Disease rs57781042 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_010459 p.Ser181Pro Disease rs60715293 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_010460 p.Val323Ala Disease rs59840738 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_010461 p.Leu325Pro Disease rs58107458 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_010462 p.Met327Lys Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_010463 p.Asp328His Disease rs56790237 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_010464 p.Asp328Val Disease rs57142010 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_010465 p.Asn329Lys Disease rs59730172 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_010466 p.Ile467Thr Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_010467 p.Glu477Lys Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_013829 p.Val186Leu Disease rs61305583 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_023726 p.Lys404Glu Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_023727 p.Ala438Asp Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_023728 p.Glu475Lys Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_026536 p.Glu167Lys Disease rs57378129 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_026537 p.Glu170Lys Disease rs59115483 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_026538 p.Asn177Ser Disease rs61495052 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_026539 p.Lys199Thr Disease rs58766676 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_026540 p.Leu311Pro Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_026541 p.Val324Asp Disease rs59335325 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_026542 p.Asp328Glu Disease rs59464425 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_026543 p.Asp328Gly Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_026544 p.Glu418Lys Disease - Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_027722 p.Glu168Lys Disease rs58619430 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_027723 p.Arg169Pro Disease rs60720877 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_027724 p.Glu190Lys Disease rs58976397 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_027725 p.Arg331His Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_027726 p.Thr469Pro Disease - Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] KRT5 P13647 VAR_028763 p.Ser79Arg Polymorphism rs1065115 - KRT5 P13647 VAR_028764 p.Asp197Glu Polymorphism rs641615 - KRT5 P13647 VAR_028765 p.Ser232Asn Polymorphism rs3194286 - KRT5 P13647 VAR_028766 p.Ser387Thr Polymorphism rs2669875 - KRT5 P13647 VAR_028767 p.Ser528Gly Polymorphism rs11549950 - KRT5 P13647 VAR_028768 p.Gly543Ser Polymorphism rs11549949 - KRT5 P13647 VAR_031640 p.Val143Asp Disease rs59851104 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_031641 p.Asp158Val Disease rs61222761 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_031642 p.Val186Met Disease - Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_031643 p.Gln191Pro Disease rs57751134 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT5 P13647 VAR_031644 p.Arg352Ser Disease - Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] KRT5 P13647 VAR_031645 p.Gly517Asp Disease - Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] KRT6A P02538 VAR_017075 p.Phe174Val Disease rs28933087 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT6A P02538 VAR_017076 p.Leu469Arg Disease rs57052654 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT6A P02538 VAR_017077 p.Glu472Lys Disease rs60554162 Pachyonychia congenita type 1 (PC1) [MIM:167200] KRT6A P02538 VAR_021264 p.Asn21Ser Polymorphism rs17845411 - KRT6A P02538 VAR_035030 p.Gly111Asp Polymorphism rs681063 - KRT6B P04259 VAR_021265 p.Asn21Ser Polymorphism rs428894 - KRT6B P04259 VAR_021266 p.Asn227Ser Polymorphism rs652423 - KRT6B P04259 VAR_021267 p.Ile365Val Polymorphism rs437014 - KRT6B P04259 VAR_023062 p.Glu472Lys Disease rs60627726 Pachyonychia congenita type 2 (PC2) [MIM:167210] KRT6C P48668 VAR_035031 p.Arg182Gln Polymorphism rs11608915 - KRT6C P48668 VAR_035032 p.Ser227Asn Polymorphism rs17099602 - KRT6C P48668 VAR_035033 p.Val481Ile Polymorphism rs412533 - KRT71 Q3SY84 VAR_038082 p.Val107Ile Polymorphism rs665522 - KRT71 Q3SY84 VAR_038083 p.Glu122Lys Polymorphism rs665470 - KRT71 Q3SY84 VAR_038084 p.Ile355Phe Polymorphism rs35988863 - KRT71 Q3SY84 VAR_038085 p.Val464Gly Polymorphism rs10783518 - KRT71 Q3SY84 VAR_038086 p.Arg523Gln Polymorphism rs2292506 - KRT72 Q14CN4 VAR_038087 p.Asn171Asp Polymorphism rs11170187 - KRT72 Q14CN4 VAR_038088 p.Tyr264Cys Polymorphism rs12833456 - KRT72 Q14CN4 VAR_038089 p.Asp366Glu Polymorphism rs7310138 - KRT72 Q14CN4 VAR_038090 p.Arg428Leu Polymorphism rs11170183 - KRT72 Q14CN4 VAR_061298 p.Gln326Glu Polymorphism rs34769047 - KRT73 Q86Y46 VAR_038091 p.Val61Met Polymorphism rs35417182 - KRT73 Q86Y46 VAR_038092 p.Pro96Leu Polymorphism rs659436 - KRT73 Q86Y46 VAR_038093 p.Arg212His Unclassified - A colorectal cancer sample KRT73 Q86Y46 VAR_038094 p.Thr248Met Unclassified - A colorectal cancer sample KRT73 Q86Y46 VAR_038095 p.Glu365Gly Polymorphism rs607426 - KRT74 Q7RTS7 VAR_038096 p.Asn165Lys Polymorphism rs11170177 - KRT74 Q7RTS7 VAR_038097 p.Glu271Asp Polymorphism rs670741 - KRT74 Q7RTS7 VAR_049806 p.Leu178Gln Polymorphism rs11170176 - KRT74 Q7RTS7 VAR_061299 p.Arg392Gln Polymorphism rs57387512 - KRT74 Q7RTS7 VAR_061300 p.Glu424Lys Polymorphism rs57711382 - KRT74 Q7RTS7 VAR_063587 p.Asn148Lys Disease - Woolly hair autosomal dominant (ADWH) [MIM:194300] KRT75 O95678 VAR_038098 p.Arg39Cys Polymorphism rs2232384 - KRT75 O95678 VAR_038099 p.Arg91Gly Polymorphism rs298109 - KRT75 O95678 VAR_038100 p.Pro117Ala Polymorphism rs2232386 - KRT75 O95678 VAR_038101 p.Ala161Thr Polymorphism rs2232387 - KRT75 O95678 VAR_038102 p.Arg209Gln Polymorphism rs2232390 - KRT75 O95678 VAR_038103 p.Glu242Gly Polymorphism rs2232393 - KRT75 O95678 VAR_038104 p.Glu337Lys Disease rs2232398 Loose anagen hair syndrome (LAHS) [MIM:600628] KRT75 O95678 VAR_038105 p.Ile367Val Polymorphism rs2232402 - KRT75 O95678 VAR_038106 p.Met427Thr Polymorphism rs2232405 - KRT75 O95678 VAR_038107 p.Arg432Cys Polymorphism rs2232406 - KRT75 O95678 VAR_038108 p.Ser485Arg Polymorphism rs298104 - KRT76 Q01546 VAR_028425 p.Ala283Thr Polymorphism rs11170271 - KRT76 Q01546 VAR_028426 p.Ala359Thr Polymorphism rs6580904 - KRT76 Q01546 VAR_028427 p.Thr629Met Polymorphism rs2280480 - KRT76 Q01546 VAR_036368 p.Leu168Val Unclassified - A breast cancer sample KRT77 Q7Z794 VAR_056022 p.Ala10Thr Polymorphism rs17118224 - KRT78 Q8N1N4 VAR_038109 p.Arg25His Polymorphism rs11170289 - KRT78 Q8N1N4 VAR_038110 p.Leu92Pro Polymorphism rs2013335 - KRT78 Q8N1N4 VAR_038111 p.Gly224Ala Polymorphism rs2682343 - KRT78 Q8N1N4 VAR_038112 p.Ala238Thr Polymorphism rs10876360 - KRT79 Q5XKE5 VAR_038113 p.Leu81Ser Polymorphism rs2638497 - KRT79 Q5XKE5 VAR_038114 p.Phe195Leu Polymorphism rs17855862 - KRT79 Q5XKE5 VAR_038115 p.His266Arg Polymorphism rs17688672 - KRT79 Q5XKE5 VAR_038116 p.Ala393Val Polymorphism rs17688627 - KRT7 P08729 VAR_016321 p.Gly364Ala Polymorphism rs2608009 - KRT7 P08729 VAR_060731 p.His186Arg Polymorphism rs6580870 - KRT80 Q6KB66 VAR_049807 p.Val238Ile Polymorphism rs35725856 - KRT81 Q14533 VAR_018113 p.Gly52Arg Polymorphism rs2071588 - KRT81 Q14533 VAR_018114 p.Leu248Arg Polymorphism rs6580873 - KRT81 Q14533 VAR_018115 p.Arg316Cys Polymorphism rs4761786 - KRT81 Q14533 VAR_018116 p.Glu402Lys Disease - Monilethrix (MLTRX) [MIM:158000] KRT81 Q14533 VAR_018117 p.Glu413Lys Disease rs57419521 Monilethrix (MLTRX) [MIM:158000] KRT82 Q9NSB4 VAR_018118 p.Thr458Met Polymorphism rs2658658 - KRT82 Q9NSB4 VAR_032786 p.Glu219Gln Polymorphism rs1791634 - KRT82 Q9NSB4 VAR_032787 p.Glu452Asp Polymorphism rs1732263 - KRT83 P78385 VAR_018119 p.Arg149Cys Polymorphism rs2857663 - KRT83 P78385 VAR_018120 p.Ile279Met Polymorphism rs2852464 - KRT83 P78385 VAR_018121 p.His493Tyr Polymorphism rs2857671 - KRT83 P78385 VAR_023052 p.Glu407Lys Disease - Monilethrix (MLTRX) [MIM:158000] KRT84 Q9NSB2 VAR_018122 p.Arg184Gln Polymorphism rs1613931 - KRT84 Q9NSB2 VAR_018123 p.Ile206Val Polymorphism rs2245203 - KRT84 Q9NSB2 VAR_018124 p.Cys446Arg Polymorphism rs951773 - KRT84 Q9NSB2 VAR_030734 p.Ser198Asn Polymorphism rs1732301 - KRT84 Q9NSB2 VAR_030735 p.Gly497Arg Polymorphism rs7297413 - KRT85 P78386 VAR_029657 p.Arg78His Disease rs61630004 Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032] KRT85 P78386 VAR_049804 p.Trp155Leu Polymorphism rs2852471 - KRT86 O43790 VAR_018125 p.Asn114Asp Disease - Monilethrix (MLTRX) [MIM:158000] KRT86 O43790 VAR_018126 p.Glu402Gln Disease rs28939669 Monilethrix (MLTRX) [MIM:158000] KRT86 O43790 VAR_018127 p.Glu402Lys Disease - Monilethrix (MLTRX) [MIM:158000] KRT86 O43790 VAR_018128 p.Glu413Lys Disease - Monilethrix (MLTRX) [MIM:158000] KRT86 O43790 VAR_018129 p.Glu413Asp Disease - Monilethrix (MLTRX) [MIM:158000] KRT86 O43790 VAR_023053 p.Asn114His Disease - Monilethrix (MLTRX) [MIM:158000] KRT8 P05787 VAR_023058 p.Gly53Val Disease rs61710484 Cirrhosis (CIRRH) [MIM:215600] KRT8 P05787 VAR_023059 p.Tyr54Cys Disease - Cirrhosis (CIRRH) [MIM:215600] KRT8 P05787 VAR_023060 p.Gly62Cys Disease rs11554495 Cirrhosis (CIRRH) [MIM:215600] KRT8 P05787 VAR_023061 p.Ile63Val Polymorphism rs59536457 - KRT8 P05787 VAR_049805 p.Arg401Trp Polymorphism rs2277330 - KRT9 P35527 VAR_003822 p.Asn161Lys Disease rs57536312 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_003823 p.Arg163Gln Disease rs57758262 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_003824 p.Arg163Trp Disease rs59616921 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_003825 p.Leu168Ser Disease rs61157095 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_010499 p.Met157Thr Disease rs59510579 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_010500 p.Met157Val Disease rs58597584 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_010501 p.Leu160Val Disease - Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_010502 p.Asn161Ser Disease rs56707768 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_010503 p.Asn161Tyr Disease rs59296273 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_010504 p.Gln172Pro Disease rs59878153 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_035438 p.Leu160Phe Disease rs28940896 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_035439 p.Val171Met Disease rs57019720 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_036805 p.Met157Arg Disease - Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_036806 p.Asn161His Disease - Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_036807 p.Asn161Ile Disease - Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_036808 p.Arg163Pro Disease - Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRT9 P35527 VAR_036810 p.Leu458Phe Disease rs58120120 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] KRTAP10-1 P60014 VAR_017755 p.Thr72Pro Polymorphism rs4818947 - KRTAP10-1 P60014 VAR_053463 p.Val20Asp Polymorphism rs2838602 - KRTAP10-1 P60014 VAR_053464 p.Val158Met Polymorphism rs4818950 - KRTAP10-1 P60014 VAR_060053 p.Thr86Ser Polymorphism rs9306109 - KRTAP10-1 P60014 VAR_060054 p.Cys126Ser Polymorphism rs4818948 - KRTAP10-1 P60014 VAR_060055 p.Gln129Pro Polymorphism rs4818949 - KRTAP10-1 P60014 VAR_062114 p.Val116Met Polymorphism rs60500206 - KRTAP10-1 P60331 VAR_017603 p.Pro39Leu Polymorphism rs233320 - KRTAP10-1 P60331 VAR_047502 p.Val101Met Polymorphism rs233319 - KRTAP10-1 P60331 VAR_047503 p.Arg241Gln Polymorphism rs233317 - KRTAP10-1 P60331 VAR_047504 p.Pro280Leu Polymorphism rs233316 - KRTAP10-1 P60412 VAR_060056 p.Ser130Phe Polymorphism rs4818952 - KRTAP10-1 P60413 VAR_053465 p.Pro146Gln Polymorphism rs35076450 - KRTAP10-1 P60413 VAR_053466 p.Gly226Ser Polymorphism rs34302939 - KRTAP10-2 P60368 VAR_017690 p.Asn15Asp Polymorphism rs233240 - KRTAP10-2 P60368 VAR_017691 p.Pro107Thr Polymorphism rs478967 - KRTAP10-2 P60368 VAR_017692 p.Ala117Pro Polymorphism rs233239 - KRTAP10-2 P60368 VAR_017693 p.Arg241Gly Polymorphism - - KRTAP10-2 P60368 VAR_053462 p.Pro177Leu Polymorphism rs2329834 - KRTAP10-3 P60369 VAR_047850 p.Thr3Ala Polymorphism rs452472 - KRTAP10-3 P60369 VAR_047851 p.Cys170Tyr Polymorphism rs233252 - KRTAP10-4 P60372 VAR_017694 p.Arg62Cys Polymorphism rs233285 - KRTAP10-4 P60372 VAR_017695 p.Ile159Val Polymorphism - - KRTAP10-4 P60372 VAR_062112 p.Gly285Cys Polymorphism rs396912 - KRTAP10-5 P60370 VAR_017696 p.Asp20Asn Polymorphism rs2020221 - KRTAP10-5 P60370 VAR_017697 p.Val235Leu Polymorphism rs464424 - KRTAP10-5 P60370 VAR_047505 p.Phe183Cys Polymorphism rs380585 - KRTAP10-5 P60370 VAR_047506 p.Tyr247Cys Polymorphism rs7509970 - KRTAP10-5 P60370 VAR_047507 p.Arg268Pro Polymorphism rs464391 - KRTAP10-5 P60370 VAR_062113 p.Cys4Ser Polymorphism rs5017208 - KRTAP10-6 P60371 VAR_057649 p.Val159Ile Polymorphism rs233306 - KRTAP10-6 P60371 VAR_060049 p.Cys68Ser Polymorphism rs13051409 - KRTAP10-6 P60371 VAR_060050 p.Pro74Ser Polymorphism rs13050443 - KRTAP10-6 P60371 VAR_062533 p.Pro300Ser Polymorphism rs465279 - KRTAP10-7 P60409 VAR_047852 p.Met116Val Polymorphism rs944419 - KRTAP10-7 P60409 VAR_047853 p.Gln220Lys Polymorphism rs363877 - KRTAP10-7 P60409 VAR_047854 p.Ser290Thr Polymorphism rs446817 - KRTAP10-7 P60409 VAR_047855 p.Thr325Ala Polymorphism rs369720 - KRTAP10-7 P60409 VAR_060051 p.Tyr129Cys Polymorphism rs233308 - KRTAP10-8 P60410 VAR_028234 p.His26Arg Polymorphism rs411254 - KRTAP10-8 P60410 VAR_036560 p.Ser64Asn Unclassified - A colorectal cancer sample KRTAP10-8 P60410 VAR_036561 p.Ser159Phe Unclassified - A breast cancer sample KRTAP10-9 P60411 VAR_017739 p.Tyr182Cys Polymorphism rs8127342 - KRTAP10-9 P60411 VAR_060052 p.Arg257Cys Polymorphism rs9980129 - KRTAP11-1 Q8IUC1 VAR_053467 p.Cys111Ser Polymorphism rs9636845 - KRTAP12-2 P59991 VAR_053468 p.Ala116Val Polymorphism rs12483730 - KRTAP12-2 P59991 VAR_053469 p.Ser143Pro Polymorphism rs2838622 - KRTAP12-2 P59991 VAR_060057 p.Ala16Thr Polymorphism rs13046903 - KRTAP12-2 P59991 VAR_060058 p.Ala16Val Polymorphism rs7275298 - KRTAP12-2 P59991 VAR_060059 p.Ser29Cys Polymorphism rs7275281 - KRTAP12-2 P59991 VAR_062115 p.Ser29Pro Polymorphism rs7276859 - KRTAP12-3 P60328 VAR_017592 p.His17Arg Polymorphism rs9306111 - KRTAP13-2 Q52LG2 VAR_053470 p.Arg26Cys Polymorphism rs16986753 - KRTAP13-2 Q52LG2 VAR_053471 p.Ser74Arg Polymorphism rs3804010 - KRTAP13-4 Q3LI77 VAR_047849 p.Ala59Thr Polymorphism rs2226548 - KRTAP13-4 Q3LI77 VAR_053472 p.Arg154His Polymorphism rs999597 - KRTAP1-3 Q8IUG1 VAR_025349 p.Cys34Ser Polymorphism - - KRTAP1-3 Q8IUG1 VAR_025352 p.Gly92Arg Polymorphism - - KRTAP15-1 Q3LI76 VAR_047019 p.Leu43Met Polymorphism rs2832873 - KRTAP19-2 Q3LHN2 VAR_053473 p.Tyr5His Polymorphism rs7280687 - KRTAP19-2 Q3LHN2 VAR_053474 p.Gly32Cys Polymorphism rs8131735 - KRTAP19-4 Q3LI73 VAR_053475 p.Tyr48Cys Polymorphism rs2298437 - KRTAP19-8 Q3LI54 VAR_053476 p.Ala61Thr Polymorphism rs7279142 - KRTAP20-1 Q3LI63 VAR_036562 p.Ser52Leu Unclassified - A breast cancer sample KRTAP20-2 Q3LI61 VAR_060060 p.Tyr7His Polymorphism rs8132705 - KRTAP20-2 Q3LI61 VAR_060061 p.Tyr13Cys Polymorphism rs8131539 - KRTAP20-2 Q3LI61 VAR_060062 p.Val17Gly Polymorphism rs8132721 - KRTAP21-1 Q3LI58 VAR_036563 p.Gly15Ser Unclassified - A breast cancer sample KRTAP22-1 Q3MIV0 VAR_057650 p.Tyr29Cys Polymorphism rs724849 - KRTAP22-1 Q3MIV0 VAR_060443 p.Leu26His Polymorphism rs198915 - KRTAP25-1 Q3LHN0 VAR_060063 p.Ser40Pro Polymorphism rs8127420 - KRTAP26-1 Q6PEX3 VAR_053477 p.Ser26Tyr Polymorphism rs3804007 - KRTAP26-1 Q6PEX3 VAR_053478 p.Pro188Thr Polymorphism rs12483584 - KRTAP27-1 Q3LI81 VAR_053479 p.Ala99Val Polymorphism rs2244485 - KRTAP3-2 Q9BYR7 VAR_053454 p.Ser8Gly Polymorphism rs9897046 - KRTAP3-2 Q9BYR7 VAR_053455 p.Arg27Cys Polymorphism rs3829598 - KRTAP3-2 Q9BYR7 VAR_053456 p.Ile46Thr Polymorphism rs3813050 - KRTAP4-1 Q9BYQ7 VAR_047044 p.His66Arg Polymorphism rs2320231 - KRTAP4-1 Q9BYQ7 VAR_047045 p.Ser115Arg Polymorphism rs35382039 - KRTAP4-1 Q9BYQ7 VAR_047046 p.Ala134Thr Polymorphism rs398825 - KRTAP4-2 Q9BYR5 VAR_060241 p.Tyr95Cys Polymorphism rs389784 - KRTAP4-3 Q9BYR4 VAR_053457 p.Pro122Ser Polymorphism rs428371 - KRTAP4-3 Q9BYR4 VAR_053458 p.Pro152Ser Polymorphism rs428371 - KRTAP4-4 Q9BYR3 VAR_053459 p.Tyr25Cys Polymorphism rs385055 - KRTAP4-4 Q9BYR3 VAR_053460 p.Cys35Ser Polymorphism rs444509 - KRTAP4-4 Q9BYR3 VAR_053461 p.Arg154Ser Polymorphism rs366700 - KRTAP4-5 Q9BYR2 VAR_057648 p.Cys6Arg Polymorphism rs238829 - KRTAP4-5 Q9BYR2 VAR_064560 p.Arg22Cys Polymorphism rs1497383 - KRTAP4-5 Q9BYR2 VAR_064561 p.Arg67His Polymorphism rs238830 - KRTAP4-5 Q9BYR2 VAR_064562 p.Cys125Tyr Polymorphism rs1846044 - KRTAP4-7 Q9BYR0 VAR_064459 p.Ser16Gly Polymorphism - - KRTAP4-7 Q9BYR0 VAR_064460 p.Asp18Val Polymorphism - - KRTAP4-7 Q9BYR0 VAR_064461 p.Thr68Ser Polymorphism - - KRTAP4-7 Q9BYR0 VAR_064464 p.Ser168Cys Polymorphism - - KRTAP5-3 Q6L8H2 VAR_060115 p.Gly27Ser Polymorphism rs7129002 - KRTAP5-3 Q6L8H2 VAR_060116 p.Tyr28Cys Polymorphism rs7108370 - KRTAP5-3 Q6L8H2 VAR_060117 p.Cys73Ser Polymorphism rs7125831 - KRTAP5-3 Q6L8H2 VAR_060118 p.Gly76Val Polymorphism rs7125826 - KRTAP5-3 Q6L8H2 VAR_060119 p.Ser83Cys Polymorphism rs7113784 - KRTAP5-6 Q6L8G9 VAR_062155 p.Cys6Phe Polymorphism rs58645950 - KRTAP5-8 O75690 VAR_062156 p.Cys28Arg Polymorphism rs55921335 - KRTAP5-9 P26371 VAR_053731 p.Gly8Arg Polymorphism rs34213141 - KRTAP5-9 P26371 VAR_053732 p.Tyr40Cys Polymorphism rs10792769 - KRTAP6-3 Q3LI67 VAR_047018 p.Tyr51Ser Polymorphism rs9305426 - KRTAP6-3 Q3LI67 VAR_060046 p.Tyr44Ser Polymorphism rs9305426 - KRTAP9-2 Q9BYQ4 VAR_046702 p.Pro36Ser Polymorphism rs9903833 - KRTAP9-2 Q9BYQ4 VAR_046703 p.Cys56Ser Polymorphism rs9902235 - KRTAP9-4 Q9BYQ2 VAR_060242 p.Ser146Tyr Polymorphism rs62065349 - KRTAP9-6 A8MVA2 VAR_042997 p.Tyr86Cys Polymorphism rs12938692 - KRTAP9-7 A8MTY7 VAR_042995 p.Thr23Ile Polymorphism rs4890107 - KRTAP9-7 A8MTY7 VAR_042996 p.Ser130Asn Polymorphism rs12948628 - KRTAP9-9 Q9BYP9 VAR_060047 p.Pro36Ser Polymorphism rs9903833 - KRTAP9-9 Q9BYP9 VAR_060048 p.Cys56Ser Polymorphism rs9902235 - KRTCAP2 Q8N6L1 VAR_025531 p.Gly32Val Polymorphism rs17854920 - KSR1 Q8IVT5 VAR_040658 p.Ser225Pro Polymorphism - - KSR1 Q8IVT5 VAR_046048 p.Val357Ala Polymorphism - - KSR1 Q8IVT5 VAR_046049 p.Gln661His Polymorphism - - KSR2 Q6VAB6 VAR_040659 p.Arg676Ser Unclassified - A lung adenocarcinoma sample KTI12 Q96EK9 VAR_032046 p.Asp191Glu Polymorphism rs2783175 - KTN1 Q86UP2 VAR_016206 p.Val282Met Polymorphism rs2274073 - KTN1 Q86UP2 VAR_035931 p.Pro226Arg Unclassified - A breast cancer sample KTN1 Q86UP2 VAR_035932 p.Thr1316Pro Unclassified - A breast cancer sample KXD1 Q9BQD3 VAR_033282 p.Pro157Ala Polymorphism rs7648 - KYNU Q16719 VAR_022092 p.Lys412Glu Polymorphism rs9013 - KYNU Q16719 VAR_049724 p.Arg188Gln Polymorphism rs2304705 - KYNU Q16719 VAR_054401 p.Thr198Ala Unclassified - - L1CAM P32004 VAR_003921 p.Trp9Ser Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003922 p.Gly121Ser Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003923 p.Ile179Ser Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003923 p.Ile179Ser Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003923 p.Ile179Ser Disease - Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350] L1CAM P32004 VAR_003924 p.Arg184Gln Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003925 p.Tyr194Cys Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003926 p.His210Gln Disease rs28933683 Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003927 p.Ile219Thr Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003928 p.Pro240Leu Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003928 p.Pro240Leu Disease - Partial agenesis of the corpus callosum (ACCPX) [MIM:304100] L1CAM P32004 VAR_003929 p.Cys264Tyr Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003930 p.Glu309Lys Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003931 p.Trp335Arg Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003931 p.Trp335Arg Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003932 p.Gly370Arg Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003932 p.Gly370Arg Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003932 p.Gly370Arg Disease - Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350] L1CAM P32004 VAR_003933 p.Arg386Cys Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003935 p.Gly452Arg Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003936 p.Arg473Cys Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003936 p.Arg473Cys Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003937 p.Asp598Asn Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003938 p.Arg632Pro Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003939 p.Ala691Asp Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003940 p.Gly698Arg Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003940 p.Gly698Arg Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003941 p.Val768Phe Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003942 p.Tyr784Cys Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003943 p.Leu935Pro Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003945 p.Pro941Leu Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003945 p.Pro941Leu Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003946 p.Tyr1070Cys Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003947 p.Ser1194Leu Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_003947 p.Ser1194Leu Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_003948 p.Ser1224Leu Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_014421 p.Val752Met Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_027512 p.Ala415Pro Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_027513 p.Ser674Cys Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_027514 p.Asp770Asn Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030403 p.His30Asn Polymorphism - - L1CAM P32004 VAR_030404 p.Arg184Trp Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030405 p.Asp202Tyr Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030406 p.Gly268Asp Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030407 p.Trp335Cys Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030408 p.Asn408Ile Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030409 p.Val421Asp Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030410 p.Ala426Asp Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030411 p.Leu482Pro Disease - Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] L1CAM P32004 VAR_030412 p.Cys497Tyr Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030414 p.Ser542Pro Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030415 p.Lys655Glu Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030416 p.Ala691Thr Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030417 p.Arg739Trp Polymorphism - - L1CAM P32004 VAR_030418 p.Met741Thr Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030419 p.Arg751Pro Disease - Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] L1CAM P32004 VAR_030420 p.Val768Ile Polymorphism rs36021462 - L1CAM P32004 VAR_030421 p.Gly1239Glu Polymorphism - - L1CAM P32004 VAR_059413 p.Leu958Val Polymorphism rs35902890 - L1TD1 Q5T7N2 VAR_035377 p.Arg27Ser Polymorphism rs7552335 - L1TD1 Q5T7N2 VAR_035378 p.Val246Ala Polymorphism rs7542665 - L1TD1 Q5T7N2 VAR_035379 p.Val309Met Polymorphism rs7533274 - L1TD1 Q5T7N2 VAR_035380 p.Lys329Asn Polymorphism rs2457828 - L1TD1 Q5T7N2 VAR_035381 p.Pro549Thr Polymorphism rs11207933 - L1TD1 Q5T7N2 VAR_035382 p.Thr613Ile Polymorphism rs2886644 - L1TD1 Q5T7N2 VAR_051094 p.Leu860Val Polymorphism rs11207934 - L2HGDH Q9H9P8 VAR_025681 p.Leu18Arg Polymorphism rs2275591 - L2HGDH Q9H9P8 VAR_025682 p.Gly55Asp Disease - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025683 p.Gly57Arg Disease - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025684 p.Lys81Glu Disease - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025685 p.His98Arg Disease - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025686 p.His98Tyr Disease - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025687 p.Glu176Asp Disease - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025688 p.Tyr178Phe Polymorphism - - L2HGDH Q9H9P8 VAR_025689 p.Pro302Leu Disease - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_025690 p.His434Pro Disease - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] L2HGDH Q9H9P8 VAR_057808 p.Arg33Ser Polymorphism rs35710558 - L3HYPDH Q96EM0 VAR_032540 p.Val42Ala Polymorphism rs17096291 - L3HYPDH Q96EM0 VAR_032541 p.Ala315Val Polymorphism rs1046701 - L3HYPDH Q96EM0 VAR_032542 p.Ile341Val Polymorphism rs8660 - L3HYPDH Q96EM0 VAR_062192 p.Pro125Ser Polymorphism rs35622288 - L3MBTL1 Q9Y468 VAR_051097 p.Ser49Thr Polymorphism rs17857202 - L3MBTL1 Q9Y468 VAR_051098 p.Ile479Met Polymorphism rs6017104 - L3MBTL2 Q969R5 VAR_015093 p.Arg300Trp Polymorphism rs2277846 - L3MBTL2 Q969R5 VAR_033998 p.Ile7Val Polymorphism rs3804097 - L3MBTL2 Q969R5 VAR_061675 p.Val337Ala Polymorphism rs34289721 - L3MBTL3 Q96JM7 VAR_022368 p.Thr183Asn Polymorphism rs9388768 - L3MBTL4 Q8NA19 VAR_060435 p.Gly489Ser Polymorphism rs12958879 - L3MBTL4 Q8NA19 VAR_060436 p.Gly618Asp Polymorphism rs3737353 - LACC1 Q8IV20 VAR_052943 p.Ile254Val Polymorphism rs3764147 - LACTB P83111 VAR_018299 p.Arg469Lys Polymorphism rs2729835 - LAD1 O00515 VAR_046539 p.Ala56Ser Polymorphism rs3738281 - LAD1 O00515 VAR_046540 p.Ala155Pro Polymorphism rs1128316 - LAD1 O00515 VAR_046541 p.Leu243Pro Polymorphism rs12088790 - LAD1 O00515 VAR_046542 p.Pro279Gln Polymorphism rs11805972 - LAD1 O00515 VAR_046543 p.Lys323Glu Polymorphism rs4128458 - LAD1 O00515 VAR_046544 p.Thr503Ser Polymorphism rs2275866 - LAG3 P18627 VAR_058295 p.Ile455Thr Polymorphism rs870849 - LAIR1 Q6GTX8 VAR_027598 p.Glu63Asp Polymorphism rs3745442 - LAIR2 Q6ISS4 VAR_049882 p.Gly78Ser Polymorphism rs36121405 - LAIR2 Q6ISS4 VAR_049883 p.His87Arg Polymorphism rs34423078 - LAIR2 Q6ISS4 VAR_049884 p.Phe115Tyr Polymorphism rs34429135 - LALBA P00709 VAR_024526 p.Ile46Val Polymorphism rs2232565 - LAMA1 P25391 VAR_056132 p.Leu349Ser Polymorphism rs9950267 - LAMA1 P25391 VAR_056133 p.Val559Ile Polymorphism rs16951079 - LAMA1 P25391 VAR_056134 p.Ser1577Ala Polymorphism rs12961939 - LAMA1 P25391 VAR_056135 p.Leu1591Val Polymorphism rs596315 - LAMA1 P25391 VAR_056136 p.Lys1632Glu Polymorphism rs11872364 - LAMA1 P25391 VAR_056137 p.Asp1682Val Polymorphism rs16950981 - LAMA1 P25391 VAR_056138 p.Ile2076Thr Polymorphism rs671871 - LAMA1 P25391 VAR_056139 p.Thr2611Ala Polymorphism rs543355 - LAMA1 P25391 VAR_060785 p.Asn674Thr Polymorphism rs566655 - LAMA1 P25391 VAR_060786 p.Met1340Val Polymorphism rs662471 - LAMA1 P25391 VAR_060787 p.Ala1876Thr Polymorphism rs11664063 - LAMA1 P25391 VAR_060788 p.Lys2002Glu Polymorphism rs607230 - LAMA1 P25391 VAR_061347 p.Leu2511Met Polymorphism rs60009920 - LAMA2 P24043 VAR_004165 p.Leu545Gln Polymorphism - - LAMA2 P24043 VAR_004166 p.Arg619His Polymorphism rs3816665 - LAMA2 P24043 VAR_004167 p.Arg919Leu Polymorphism rs35277491 - LAMA2 P24043 VAR_004168 p.Tyr2586His Polymorphism - - LAMA2 P24043 VAR_004169 p.Glu2614Lys Polymorphism - - LAMA2 P24043 VAR_015743 p.Cys527Tyr Disease - Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_015744 p.Cys862Arg Disease - Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_015745 p.Leu2564Pro Disease - Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855] LAMA2 P24043 VAR_035819 p.Pro1160Ala Unclassified - A breast cancer sample LAMA2 P24043 VAR_047713 p.Arg96Ser Polymorphism rs34626728 - LAMA2 P24043 VAR_047714 p.Tyr240His Polymorphism rs3778142 - LAMA2 P24043 VAR_047715 p.His644Asp Polymorphism rs35879899 - LAMA2 P24043 VAR_047716 p.Val1138Met Polymorphism rs2306942 - LAMA2 P24043 VAR_047717 p.Thr1205Ala Polymorphism rs35889149 - LAMA2 P24043 VAR_047718 p.Lys1561Gln Polymorphism rs4143752 - LAMA2 P24043 VAR_047719 p.Ala1945Thr Polymorphism rs3828736 - LAMA2 P24043 VAR_047720 p.Ala2587Val Polymorphism rs6569605 - LAMA2 P24043 VAR_047721 p.Thr2636Ala Polymorphism rs2244008 - LAMA2 P24043 VAR_047722 p.Thr3029Ala Polymorphism rs34551216 - LAMA3 Q16787 VAR_047374 p.Thr2702Ala Polymorphism rs9952370 - LAMA3 Q16787 VAR_047375 p.Asn2815Lys Polymorphism rs1154232 - LAMA3 Q16787 VAR_050078 p.Thr796Asn Polymorphism rs17187262 - LAMA3 Q16787 VAR_050079 p.Val1206Ala Polymorphism rs12457323 - LAMA3 Q16787 VAR_050080 p.Pro1208Thr Polymorphism rs17202961 - LAMA3 Q16787 VAR_059444 p.Phe1774Leu Polymorphism rs958631 - LAMA3 Q16787 VAR_059445 p.Ser2834Gly Polymorphism rs1154233 - LAMA4 Q16363 VAR_025550 p.Tyr498His Polymorphism rs1050348 - LAMA4 Q16363 VAR_025551 p.Gly1117Ser Polymorphism rs2032567 - LAMA4 Q16363 VAR_025552 p.Pro1119Arg Polymorphism rs1050349 - LAMA4 Q16363 VAR_056140 p.Gly94Ser Polymorphism rs35349917 - LAMA4 Q16363 VAR_056141 p.Arg154Trp Polymorphism rs11757455 - LAMA4 Q16363 VAR_056142 p.Leu492His Polymorphism rs3752579 - LAMA4 Q16363 VAR_056143 p.Asn1549Ser Polymorphism rs12110554 - LAMA4 Q16363 VAR_056144 p.Val1815Ile Polymorphism rs3734292 - LAMA4 Q16363 VAR_061348 p.Ala283Glu Polymorphism rs9400522 - LAMA5 O15230 VAR_030847 p.Val889Met Polymorphism rs6062223 - LAMA5 O15230 VAR_030848 p.Met1258Thr Polymorphism rs3810548 - LAMA5 O15230 VAR_030849 p.Lys1367Glu Polymorphism rs2427286 - LAMA5 O15230 VAR_030850 p.Gly1434Ala Polymorphism rs17750870 - LAMA5 O15230 VAR_030851 p.Arg1667Trp Polymorphism rs13039398 - LAMA5 O15230 VAR_030852 p.His1717Tyr Polymorphism rs875379 - LAMA5 O15230 VAR_030853 p.Phe1807Ser Polymorphism rs2427284 - LAMA5 O15230 VAR_030854 p.Val1900Met Polymorphism rs2427283 - LAMA5 O15230 VAR_030855 p.Ala1908Thr Polymorphism rs11698080 - LAMA5 O15230 VAR_030856 p.His2036Arg Polymorphism rs6143021 - LAMA5 O15230 VAR_030857 p.Arg2053His Polymorphism rs3737137 - LAMA5 O15230 VAR_030858 p.Asp2062Asn Polymorphism rs2274934 - LAMA5 O15230 VAR_030859 p.Arg2226His Polymorphism rs2297587 - LAMA5 O15230 VAR_030860 p.Arg3079Trp Polymorphism rs944895 - LAMA5 O15230 VAR_047887 p.Thr401Ala Polymorphism rs4925229 - LAMA5 O15230 VAR_047888 p.Thr1671Met Polymorphism rs944893 - LAMB1 P07942 VAR_014698 p.Val670Ala Polymorphism rs20555 - LAMB1 P07942 VAR_014699 p.Gln1022Arg Polymorphism rs20556 - LAMB1 P07942 VAR_032774 p.Gly860Ser Polymorphism rs35710474 - LAMB1 P07942 VAR_061349 p.Pro379Ser Polymorphism rs28750165 - LAMB2 P55268 VAR_031968 p.Arg246Gln Disease - Pierson syndrome (PIERSS) [MIM:609049] LAMB2 P55268 VAR_031969 p.Arg246Trp Disease - Pierson syndrome (PIERSS) [MIM:609049] LAMB2 P55268 VAR_031970 p.Cys321Arg Disease - Pierson syndrome (PIERSS) [MIM:609049] LAMB2 P55268 VAR_031971 p.Glu987Lys Polymorphism rs34759087 - LAMB2 P55268 VAR_031972 p.Asn1380Lys Disease - Pierson syndrome (PIERSS) [MIM:609049] LAMB2 P55268 VAR_031973 p.Leu1393Phe Disease - Pierson syndrome (PIERSS) [MIM:609049] LAMB3 Q13751 VAR_004170 p.Glu210Lys Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] LAMB3 Q13751 VAR_004171 p.Pro679Leu Disease - Epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700] LAMB3 Q13751 VAR_034060 p.Ser438Thr Polymorphism rs2229468 - LAMB3 Q13751 VAR_034061 p.Asn690Ser Polymorphism rs2229466 - LAMB3 Q13751 VAR_034062 p.Met852Leu Polymorphism rs12748250 - LAMB3 Q13751 VAR_034063 p.Arg988Trp Polymorphism rs2229467 - LAMB3 Q13751 VAR_035820 p.Arg450Cys Unclassified - A colorectal cancer sample LAMB3 Q13751 VAR_037309 p.Asn181Asp Polymorphism rs2235542 - LAMB3 Q13751 VAR_037310 p.Gly199Ala Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] LAMB3 Q13751 VAR_037311 p.Lys207Gln Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] LAMB3 Q13751 VAR_037312 p.Arg292Leu Polymorphism rs12091253 - LAMB3 Q13751 VAR_037313 p.Val527Met Polymorphism rs2076349 - LAMB3 Q13751 VAR_037314 p.Ala926Asp Polymorphism rs2076222 - LAMB4 A4D0S4 VAR_037588 p.Met44Thr Polymorphism rs35644375 - LAMB4 A4D0S4 VAR_037589 p.His234Tyr Polymorphism rs2074749 - LAMB4 A4D0S4 VAR_037590 p.Val591Phe Polymorphism rs9690688 - LAMB4 A4D0S4 VAR_037591 p.Asn866Ser Polymorphism rs2240445 - LAMB4 A4D0S4 VAR_037592 p.Thr1350Asn Polymorphism rs10260756 - LAMB4 A4D0S4 VAR_037593 p.His1510Tyr Polymorphism rs1627354 - LAMB4 A4D0S4 VAR_037594 p.Arg1612Ser Polymorphism rs2528693 - LAMC1 P11047 VAR_014700 p.Ile458Val Polymorphism rs20563 - LAMC1 P11047 VAR_014701 p.Leu888Pro Polymorphism rs20558 - LAMC1 P11047 VAR_014702 p.Arg1121Gln Polymorphism rs20559 - LAMC1 P11047 VAR_035821 p.Arg1116His Unclassified - A colorectal cancer sample LAMC1 P11047 VAR_054488 p.Glu731Lys Polymorphism rs2230157 - LAMC2 Q13753 VAR_020304 p.Ser733Thr Polymorphism rs2296303 - LAMC2 Q13753 VAR_022017 p.Asp247Glu Polymorphism rs2296306 - LAMC2 Q13753 VAR_050081 p.Ala111Pro Polymorphism rs12065473 - LAMC2 Q13753 VAR_050082 p.Arg115Gln Polymorphism rs17481405 - LAMC2 Q13753 VAR_050083 p.Thr124Met Polymorphism rs11586699 - LAMC2 Q13753 VAR_050084 p.Asp136Val Polymorphism rs12037099 - LAMC2 Q13753 VAR_050085 p.Ser608Ile Polymorphism rs4373715 - LAMC3 Q9Y6N6 VAR_056145 p.Pro522Ser Polymorphism rs869457 - LAMC3 Q9Y6N6 VAR_056146 p.Glu544Gly Polymorphism rs10901333 - LAMC3 Q9Y6N6 VAR_056147 p.Arg770Gly Polymorphism rs3739510 - LAMC3 Q9Y6N6 VAR_056148 p.Ser1082Gly Polymorphism rs2275140 - LAMC3 Q9Y6N6 VAR_056149 p.Arg1264Trp Polymorphism rs11244275 - LAMP1 P11279 VAR_046450 p.Ile309Thr Polymorphism rs9577230 - LAMP2 P13473 VAR_011992 p.Pro256His Polymorphism rs1043878 - LAMP2 P13473 VAR_026230 p.Trp321Arg Disease - Danon disease (DAND) [MIM:300257] LAMP3 Q9UQV4 VAR_025343 p.Ile318Val Polymorphism rs482912 - LAMP3 Q9UQV4 VAR_030827 p.Glu32Gly Polymorphism rs17853113 - LAMP5 Q9UJQ1 VAR_014401 p.Asp12Gly Polymorphism rs2232259 - LAMP5 Q9UJQ1 VAR_014402 p.Ile81Val Polymorphism rs2232263 - LAMP5 Q9UJQ1 VAR_014403 p.Gln103Glu Polymorphism rs2232264 - LAMP5 Q9UJQ1 VAR_014404 p.Ser158Gly Polymorphism rs2232266 - LAMTOR1 Q6IAA8 VAR_030250 p.Ser73Leu Polymorphism rs1053443 - LANCL2 Q9NS86 VAR_053480 p.Ile74Val Polymorphism rs6961412 - LANCL2 Q9NS86 VAR_060064 p.Thr56Pro Polymorphism rs2272263 - LAPTM5 Q13571 VAR_053653 p.Arg226Lys Polymorphism rs35351292 - LARGE O95461 VAR_013685 p.Arg68Gly Polymorphism rs470035 - LARGE O95461 VAR_013686 p.Arg68Pro Polymorphism rs135311 - LARGE O95461 VAR_013687 p.Arg665His Polymorphism rs1046166 - LARGE O95461 VAR_019811 p.Glu509Lys Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B6 (MDDGB6) [MIM:608840] LARGE O95461 VAR_065064 p.Ser331Phe Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6) [MIM:613154] LARGE O95461 VAR_065065 p.Trp495Arg Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6) [MIM:613154] LARP1B Q659C4 VAR_034813 p.Pro462Arg Polymorphism rs12508837 - LARP1B Q659C4 VAR_034814 p.Arg660His Polymorphism rs12645577 - LARP4 Q71RC2 VAR_055936 p.Phe351Leu Polymorphism rs17124706 - LARP4 Q71RC2 VAR_055937 p.Asn502Thr Polymorphism rs17124715 - LARS2 Q15031 VAR_052638 p.Lys727Asn Polymorphism rs36054230 - LARS2 Q15031 VAR_052639 p.Glu831Asp Polymorphism rs9827689 - LARS Q9P2J5 VAR_052637 p.Arg1088Lys Polymorphism rs10988 - LAS1L Q9Y4W2 VAR_036587 p.Arg170Cys Unclassified - A colorectal cancer sample LAS2 Q8IYD9 VAR_050903 p.Arg147Pro Polymorphism rs1657907 - LAS2 Q8IYD9 VAR_050904 p.Cys196Phe Polymorphism rs16958096 - LATS1 O95835 VAR_040660 p.Arg96Trp Polymorphism rs55945045 - LATS1 O95835 VAR_040661 p.Ser204Gly Polymorphism rs34793526 - LATS1 O95835 VAR_040662 p.Pro237Gln Polymorphism rs56149740 - LATS1 O95835 VAR_040663 p.Arg370Trp Polymorphism rs56348064 - LATS1 O95835 VAR_040664 p.Pro531Ser Polymorphism rs55874734 - LATS1 O95835 VAR_040665 p.Phe641Leu Polymorphism rs35163691 - LATS1 O95835 VAR_040666 p.Met669Ile Unclassified - A lung adenocarcinoma sample LATS1 O95835 VAR_040667 p.Arg806Pro Unclassified - A lung large cell carcinoma sample LATS1 O95835 VAR_040668 p.Gly1000Ser Polymorphism rs56412005 - LATS2 Q9NRM7 VAR_019789 p.Ala324Val Polymorphism rs558614 - LATS2 Q9NRM7 VAR_040669 p.Gly40Glu Unclassified - A lung adenocarcinoma sample LATS2 Q9NRM7 VAR_040670 p.Ser91Leu Polymorphism rs55842804 - LATS2 Q9NRM7 VAR_040671 p.Ile799Val Polymorphism rs35368391 - LATS2 Q9NRM7 VAR_040672 p.Ala1014Gly Polymorphism rs45523141 - LATS2 Q9NRM7 VAR_040673 p.Leu1025Pro Polymorphism rs56116059 - LATS2 Q9NRM7 VAR_047077 p.Gly363Ser Polymorphism rs2770928 - LAYN Q6UX15 VAR_029496 p.Glu66Lys Polymorphism rs11827718 - LBP P18428 VAR_028243 p.Pro9Leu Polymorphism rs2232580 - LBP P18428 VAR_028244 p.Leu125Ile Polymorphism rs2232585 - LBP P18428 VAR_028245 p.Val166Met Polymorphism rs5744204 - LBP P18428 VAR_028246 p.Met242Ile Polymorphism rs2232601 - LBP P18428 VAR_028247 p.Asp283Gly Polymorphism rs2232607 - LBP P18428 VAR_028248 p.His294Arg Polymorphism rs2232608 - LBP P18428 VAR_028249 p.Pro333Leu Polymorphism rs2232613 - LBP P18428 VAR_028250 p.Leu339Phe Polymorphism rs5744212 - LBP P18428 VAR_028251 p.Phe436Leu Polymorphism rs2232618 - LBP P18428 VAR_028252 p.Ala445Thr Polymorphism rs2232619 - LBP P18428 VAR_049737 p.Arg111Gln Polymorphism rs2232583 - LBP P18428 VAR_049738 p.Glu147Lys Polymorphism rs36015492 - LBP P18428 VAR_049739 p.Ile364Thr Polymorphism rs2232615 - LBP P18428 VAR_061293 p.Ser157Cys Polymorphism rs2232586 - LBR Q14739 VAR_017841 p.Pro119Leu Disease - Pelger-Huet anomaly (PHA) [MIM:169400] LBR Q14739 VAR_017842 p.Pro569Arg Disease - Pelger-Huet anomaly (PHA) [MIM:169400] LBR Q14739 VAR_020209 p.Thr311Ala Polymorphism rs2275601 - LBR Q14739 VAR_024318 p.Ser154Asn Polymorphism rs2230419 - LBR Q14739 VAR_052155 p.Arg169Cys Polymorphism rs2230420 - LBR Q14739 VAR_063811 p.Arg372Cys Disease - Reynolds syndrome (REYNS) [MIM:613471] LBX2 Q6XYB7 VAR_037227 p.Ser158Phe Polymorphism rs17009998 - LCA5L O95447 VAR_021947 p.Gly17Ser Polymorphism rs2837029 - LCA5L O95447 VAR_042739 p.Gly547Ser Polymorphism rs11558767 - LCA5 Q86VQ0 VAR_023094 p.Leu24Ser Polymorphism rs2655655 - LCA5 Q86VQ0 VAR_038989 p.Asp26Ala Polymorphism rs34068461 - LCA5 Q86VQ0 VAR_038990 p.Arg66Gln Polymorphism rs35338066 - LCA5 Q86VQ0 VAR_038991 p.Ala546Pro Polymorphism rs35415141 - LCA5 Q86VQ0 VAR_038992 p.Gly656Asp Polymorphism rs1875845 - LCAT P04180 VAR_004252 p.Pro34Leu Disease - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_004253 p.Gly54Ser Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004254 p.Gly57Arg Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004255 p.Ala117Thr Disease rs28940886 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004256 p.Thr147Ile Disease - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_004257 p.Arg159Trp Disease rs28940887 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004258 p.Arg164His Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004259 p.Arg171Trp Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004260 p.Tyr180Asn Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004261 p.Arg182Cys Polymorphism - - LCAT P04180 VAR_004262 p.Leu233Pro Disease rs28942087 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004263 p.Asn252Lys Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004264 p.Met276Lys Disease - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_004265 p.Met317Ile Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004266 p.Thr345Met Disease rs28940888 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_004267 p.Thr371Met Disease - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_017030 p.Ser232Thr Polymorphism rs4986970 - LCAT P04180 VAR_039020 p.Asn29Ile Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039021 p.Pro34Gln Disease - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039022 p.Thr37Met Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039023 p.Val70Glu Disease - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039024 p.Gly95Arg Unclassified - - LCAT P04180 VAR_039025 p.Ser115Pro Polymorphism - - LCAT P04180 VAR_039026 p.Arg123Cys Disease - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039027 p.Arg159Gln Disease - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039028 p.Arg164Cys Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039029 p.Ala165Thr Polymorphism - - LCAT P04180 VAR_039030 p.Ser205Asn Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039031 p.Lys242Asn Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039032 p.Arg268His Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039033 p.Thr298Ala Disease - Fish-eye disease (FED) [MIM:136120] LCAT P04180 VAR_039033 p.Thr298Ala Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039034 p.Thr298Ile Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039035 p.Pro331Ser Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039036 p.Val333Met Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCAT P04180 VAR_039037 p.Leu396Arg Unclassified - - LCAT P04180 VAR_039038 p.Phe406Val Disease - Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] LCE1C Q5T751 VAR_053481 p.Cys16Tyr Polymorphism rs2006940 - LCE1D Q5T752 VAR_060065 p.Asn59Ser Polymorphism rs7527180 - LCE1D Q5T752 VAR_062116 p.Arg78His Polymorphism rs41268490 - LCE1E Q5T753 VAR_060066 p.Ser59Gly Polymorphism rs11205106 - LCE1E Q5T753 VAR_062117 p.Gly111Ser Polymorphism rs56313719 - LCE2A Q5TA79 VAR_062118 p.Cys20Tyr Polymorphism rs58733562 - LCE2B O14633 VAR_053482 p.Ile51Ser Polymorphism rs3737859 - LCE2B O14633 VAR_062119 p.Arg83Gln Polymorphism rs28391399 - LCE2D Q5TA82 VAR_053483 p.Cys92Tyr Polymorphism rs11205064 - LCE3A Q5TA76 VAR_053484 p.Arg59Cys Polymorphism rs16834245 - LCE3D Q9BYE3 VAR_053485 p.Gly43Val Polymorphism rs512208 - LCE3D Q9BYE3 VAR_062120 p.Gly81Val Polymorphism rs57201979 - LCE4A Q5TA78 VAR_053486 p.Gly95Val Polymorphism rs10888510 - LCE5A Q5TCM9 VAR_053487 p.Cys40Tyr Polymorphism rs2105117 - LCK P06239 VAR_013463 p.Val28Leu Unclassified - Leukemia LCK P06239 VAR_013465 p.Ala353Val Unclassified - Leukemia LCK P06239 VAR_013466 p.Pro447Leu Unclassified - Leukemia LCK P06239 VAR_051697 p.Gly201Ser Polymorphism rs11567841 - LCLAT1 Q6UWP7 VAR_032830 p.Ile290Val Polymorphism rs12471868 - LCMT2 O60294 VAR_022081 p.Arg141Ser Polymorphism rs3742970 - LCMT2 O60294 VAR_023378 p.Val67Leu Polymorphism rs45552436 - LCMT2 O60294 VAR_023379 p.Cys149Tyr Polymorphism rs45593931 - LCMT2 O60294 VAR_023380 p.Thr518Ala Polymorphism rs45530831 - LCN15 Q6UWW0 VAR_059453 p.Ser152Ala Polymorphism rs2297723 - LCN15 Q6UWW0 VAR_059454 p.Lys164Glu Polymorphism rs2297722 - LCN9 Q8WX39 VAR_056167 p.His65Tyr Polymorphism rs12352552 - LCN9 Q8WX39 VAR_056168 p.Cys90Phe Polymorphism rs7875283 - LCNL1 Q6ZST4 VAR_046189 p.Ala68Thr Polymorphism rs17578859 - LCP1 P13796 VAR_001371 p.Asp24Glu Polymorphism - - LCP1 P13796 VAR_024398 p.Lys533Glu Polymorphism rs4941543 - LCP1 P13796 VAR_030826 p.Pro544Ala Polymorphism rs17067725 - LCTL Q6UWM7 VAR_023586 p.Ala240Thr Polymorphism rs1030986 - LCTL Q6UWM7 VAR_049297 p.Thr212Met Polymorphism rs7179073 - LCT P09848 VAR_026705 p.Val219Ile Polymorphism rs3754689 - LCT P09848 VAR_026706 p.Gln268His Disease - Congenital lactase deficiency (COLACD) [MIM:223000] LCT P09848 VAR_026707 p.Ile362Val Polymorphism rs4954449 - LCT P09848 VAR_026708 p.Gly1363Ser Disease - Congenital lactase deficiency (COLACD) [MIM:223000] LCT P09848 VAR_026709 p.Asn1639Ser Polymorphism rs2322659 - LCT P09848 VAR_055882 p.Ser190Leu Polymorphism rs35156533 - LCT P09848 VAR_055883 p.Val1593Met Polymorphism rs35891837 - LDB1 Q86U70 VAR_036366 p.Arg299Gln Unclassified - A colorectal cancer sample LDB3 O75112 VAR_024008 p.Val55Ile Polymorphism rs3740343 - LDB3 O75112 VAR_024009 p.Ser189Leu Disease rs45487699 Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493] LDB3 O75112 VAR_024010 p.Thr206Ile Disease - Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493] LDB3 O75112 VAR_024011 p.Ile345Met Disease - Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493] LDB3 O75112 VAR_024012 p.Val635Ile Polymorphism rs45618633 - LDB3 O75112 VAR_024013 p.Asp673Asn Disease rs45514002 Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493] LDB3 O75112 VAR_050146 p.Pro101Leu Polymorphism rs45592139 - LDHAL6B Q9BYZ2 VAR_027936 p.Val14Met Polymorphism rs3809530 - LDHAL6B Q9BYZ2 VAR_027937 p.Pro30Leu Polymorphism rs3809529 - LDHAL6B Q9BYZ2 VAR_027938 p.Ile326Thr Polymorphism rs3825937 - LDHAL6B Q9BYZ2 VAR_049757 p.Pro259Ser Polymorphism rs35212259 - LDHA P00338 VAR_004180 p.Lys222Glu Polymorphism - - LDHA P00338 VAR_004181 p.Arg315Cys Polymorphism - - LDHA P00338 VAR_059374 p.Ser161Arg Polymorphism rs5030621 - LDHB P07195 VAR_004173 p.Lys7Glu Unclassified - - LDHB P07195 VAR_004174 p.Ala35Glu Unclassified - - LDHB P07195 VAR_004175 p.Ser129Arg Unclassified - - LDHB P07195 VAR_004176 p.Phe171Val Unclassified - - LDHB P07195 VAR_004177 p.Arg172His Unclassified - - LDHB P07195 VAR_004178 p.Met175Leu Unclassified - - LDHB P07195 VAR_004179 p.Asp322Val Unclassified - - LDHB P07195 VAR_011634 p.Gly69Glu Unclassified - - LDHB P07195 VAR_011635 p.Arg107Trp Unclassified - - LDHB P07195 VAR_011636 p.Arg172Pro Unclassified - - LDHB P07195 VAR_011638 p.Trp325Arg Unclassified - - LDHB P07195 VAR_049758 p.Met175Val Polymorphism rs7966339 - LDHC P07864 VAR_034068 p.Glu285Gln Polymorphism rs2230150 - LDHD Q86WU2 VAR_029561 p.Arg233Lys Polymorphism rs11644820 - LDLRAD2 Q5SZI1 VAR_034812 p.Asn134Thr Polymorphism rs10917051 - LDLRAP1 Q5SW96 VAR_023320 p.Ser202His Disease - Autosomal recessive hypercholesterolemia (ARH) [MIM:603813] LDLRAP1 Q5SW96 VAR_028403 p.Ser202Pro Polymorphism rs6687605 - LDLR P01130 VAR_005304 p.Cys27Trp Unclassified - - LDLR P01130 VAR_005306 p.Cys52Tyr Unclassified - - LDLR P01130 VAR_005307 p.Arg78Cys Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005308 p.Trp87Gly Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005309 p.Cys89Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005310 p.Asp90Gly Unclassified - - LDLR P01130 VAR_005311 p.Asp90Asn Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005312 p.Asp90Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005313 p.Gln92Glu Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005314 p.Cys95Gly Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005315 p.Glu101Lys Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005316 p.Cys109Arg Unclassified - - LDLR P01130 VAR_005317 p.Cys116Arg Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005318 p.Glu140Lys Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005319 p.Cys155Gly Unclassified - - LDLR P01130 VAR_005320 p.Cys160Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005321 p.Asp168His Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005322 p.Asp168Asn Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005323 p.Asp168Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005324 p.Cys173Arg Unclassified - - LDLR P01130 VAR_005325 p.Cys173Trp Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005326 p.Asp175Asn Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005327 p.Ser177Leu Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005328 p.Cys197Phe Unclassified - - LDLR P01130 VAR_005329 p.Cys197Tyr Unclassified - - LDLR P01130 VAR_005330 p.Cys197Arg Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005332 p.Asp221Gly Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005333 p.Asp221Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005334 p.Asp224Asn Unclassified - - LDLR P01130 VAR_005335 p.Asp224Gly Unclassified - - LDLR P01130 VAR_005336 p.Asp224Val Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005337 p.Ser226Pro Unclassified - - LDLR P01130 VAR_005338 p.Asp227Glu Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005340 p.Glu228Gln Unclassified - - LDLR P01130 VAR_005341 p.Glu228Lys Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005342 p.Cys231Gly Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005343 p.Glu240Lys Unclassified - - LDLR P01130 VAR_005344 p.Cys248Phe Unclassified - - LDLR P01130 VAR_005345 p.Cys248Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005346 p.Asp256Gly Unclassified - - LDLR P01130 VAR_005347 p.Asp266Glu Unclassified - - LDLR P01130 VAR_005348 p.Cys270Tyr Unclassified - - LDLR P01130 VAR_005349 p.Cys276Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005350 p.Glu277Lys Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005351 p.Ser286Arg Unclassified - - LDLR P01130 VAR_005352 p.Asp301Ala Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005353 p.Cys302Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005354 p.Cys302Trp Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005355 p.Asp304Asn Unclassified - - LDLR P01130 VAR_005356 p.Asp304Glu Unclassified - - LDLR P01130 VAR_005357 p.Ser306Leu Polymorphism rs11547917 - LDLR P01130 VAR_005358 p.Cys313Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005359 p.Cys318Tyr Unclassified - - LDLR P01130 VAR_005360 p.Cys318Phe Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005361 p.His327Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005362 p.Cys329Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005363 p.Gly335Ser Unclassified - - LDLR P01130 VAR_005364 p.Cys338Ser Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005365 p.Asp342Glu Unclassified - - LDLR P01130 VAR_005366 p.Asp342Asn Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005367 p.Gly343Ser Unclassified - - LDLR P01130 VAR_005368 p.Arg350Pro Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005369 p.Cys352Tyr Unclassified - - LDLR P01130 VAR_005370 p.Asp354Gly Unclassified - - LDLR P01130 VAR_005371 p.Asp354Val Unclassified - - LDLR P01130 VAR_005372 p.Glu357Lys Unclassified - - LDLR P01130 VAR_005373 p.Cys364Arg Unclassified - - LDLR P01130 VAR_005374 p.Cys368Arg Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005375 p.Cys379Arg Unclassified - - LDLR P01130 VAR_005376 p.Ala399Asp Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005377 p.Leu401His Unclassified - - LDLR P01130 VAR_005378 p.Glu408Lys Unclassified - - LDLR P01130 VAR_005379 p.Leu414Arg Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005380 p.Arg416Gln Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005381 p.Arg416Trp Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005382 p.Ile423Thr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005383 p.Val429Met Disease rs28942078 Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005384 p.Ala431Thr Disease rs28942079 Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005385 p.Asp433His Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005386 p.Thr434Lys Unclassified - - LDLR P01130 VAR_005387 p.Ile441Asn Unclassified - - LDLR P01130 VAR_005388 p.Ile441Met Unclassified - - LDLR P01130 VAR_005389 p.Trp443Cys Unclassified - - LDLR P01130 VAR_005390 p.Gly478Arg Unclassified - - LDLR P01130 VAR_005391 p.Asp482His Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005392 p.Trp483Arg Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005394 p.His485Arg Unclassified - - LDLR P01130 VAR_005395 p.Val523Met Polymorphism rs28942080 - LDLR P01130 VAR_005396 p.Pro526Ser Unclassified - - LDLR P01130 VAR_005397 p.Gly546Asp Polymorphism rs28942081 - LDLR P01130 VAR_005398 p.Gly549Asp Polymorphism rs28941776 - LDLR P01130 VAR_005399 p.Asn564His Disease rs28942086 Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005400 p.Asn564Ser Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005401 p.Gly565Val Polymorphism rs28942082 - LDLR P01130 VAR_005402 p.Asp579Asn Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005403 p.Gly592Glu Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005404 p.Leu599Ser Unclassified - - LDLR P01130 VAR_005405 p.Arg633Cys Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005406 p.Pro649Leu Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005407 p.Cys667Tyr Disease rs28942083 Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005408 p.Cys677Arg Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005409 p.Leu682Pro Unclassified - - LDLR P01130 VAR_005410 p.Pro685Leu Disease rs28942084 Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005412 p.Asp700Glu Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005413 p.Thr726Ile Polymorphism rs45508991 - LDLR P01130 VAR_005414 p.Ile792Phe Unclassified - - LDLR P01130 VAR_005415 p.Val797Met Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005418 p.Val827Ile Unclassified - - LDLR P01130 VAR_005419 p.Tyr828Cys Disease rs28942085 Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_005420 p.Gly844Asp Unclassified - - LDLR P01130 VAR_007979 p.Ala50Ser Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007980 p.Ser56Pro Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007981 p.Asp175Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007982 p.Asp221Asn Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007983 p.Glu288Lys Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007984 p.Asp356Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007985 p.Gln366Arg Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007986 p.Cys379Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007987 p.Leu401Val Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007988 p.Leu432Val Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_007989 p.Pro608Ser Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_008995 p.Phe403Leu Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_008996 p.Leu568Val Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_008997 p.Glu714Lys Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_011862 p.Gly2Arg Polymorphism rs5931 - LDLR P01130 VAR_011863 p.Val468Ile Polymorphism rs5932 - LDLR P01130 VAR_011864 p.Arg814Gln Polymorphism rs5928 - LDLR P01130 VAR_013949 p.Cys46Ser Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_013950 p.Asp172His Unclassified - - LDLR P01130 VAR_013951 p.Cys184Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_013952 p.Arg253Trp Unclassified - - LDLR P01130 VAR_013953 p.Cys261Phe Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_013954 p.Arg406Gln Unclassified - - LDLR P01130 VAR_013955 p.Pro699Leu Unclassified - - LDLR P01130 VAR_024519 p.Ala391Thr Polymorphism rs11669576 - LDLR P01130 VAR_059375 p.Pro105Ser Polymorphism rs13306510 - LDLR P01130 VAR_062371 p.Cys134Phe Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062372 p.Cys134Trp Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062373 p.Cys222Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062374 p.Gln254Pro Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062375 p.Cys276Arg Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062376 p.Cys318Arg Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062377 p.Cys358Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062378 p.Asn370Thr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062379 p.Asp415Gly Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062380 p.Ile451Thr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062381 p.Leu479Pro Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062382 p.Asp579Tyr Disease - Familial hypercholesterolemia (FH) [MIM:143890] LDLR P01130 VAR_062383 p.Pro826Ser Disease - Familial hypercholesterolemia (FH) [MIM:143890] LECT1 O75829 VAR_024413 p.Val175Ile Polymorphism rs7330220 - LECT1 O75829 VAR_048719 p.Phe116Leu Polymorphism rs3742298 - LECT2 O14960 VAR_011386 p.Ile58Val Polymorphism rs31517 - LEF1 Q9UJU2 VAR_035935 p.Gly113Arg Unclassified - A colorectal cancer sample LEFTY1 O75610 VAR_024231 p.Asp322Ala Polymorphism rs360057 - LEFTY1 O75610 VAR_052567 p.Val57Met Polymorphism rs35273824 - LEFTY2 O00292 VAR_010385 p.Ser342Asn Disease - Left-right axis malformations (LRAM) [MIM:601877] LEFTY2 O00292 VAR_021980 p.Ser92Leu Polymorphism rs366439 - LEFTY2 O00292 VAR_021981 p.Pro286Leu Polymorphism rs2295418 - LEKR1 Q6ZMV7 VAR_061673 p.Ile356Val Polymorphism rs61469347 - LEMD1 Q68G75 VAR_031999 p.Pro25Ser Polymorphism rs7531012 - LEMD3 Q9Y2U8 VAR_034605 p.Asp260Tyr Polymorphism rs7487311 - LENG1 Q96BZ8 VAR_051090 p.Glu97Lys Polymorphism rs35089861 - LENG8 Q96PV6 VAR_035294 p.Arg242Pro Polymorphism rs35061854 - LENG8 Q96PV6 VAR_035295 p.Ile520Val Polymorphism rs35336528 - LENG9 Q96B70 VAR_029602 p.His153Arg Polymorphism rs10406453 - LENG9 Q96B70 VAR_029603 p.Arg499Pro Polymorphism rs10423424 - LEP P41159 VAR_004197 p.Val94Met Polymorphism rs17151919 - LEP P41159 VAR_008094 p.Arg105Trp Disease rs104894023 Leptin deficiency (LEPD) [MIM:614962] LEP P41159 VAR_011955 p.Val110Met Polymorphism rs1800564 - LEPRE1 Q32P28 VAR_033252 p.Gly349Arg Polymorphism rs6700677 - LEPRE1 Q32P28 VAR_033253 p.Pro506Arg Polymorphism rs3738501 - LEPRE1 Q32P28 VAR_033254 p.Met549Ile Polymorphism rs11581921 - LEPRE1 Q32P28 VAR_050442 p.Gln644Lys Polymorphism rs3738497 - LEPREL1 Q8IVL5 VAR_036123 p.Asp613Asn Unclassified - A breast cancer sample LEPREL2 Q8IVL6 VAR_050443 p.Thr301Ala Polymorphism rs10744716 - LEPREL2 Q8IVL6 VAR_050444 p.Arg304Cys Polymorphism rs35359746 - LEPREL2 Q8IVL6 VAR_050445 p.Gly385Glu Polymorphism rs1047771 - LEPREL2 Q8IVL6 VAR_050446 p.Ile685Thr Polymorphism rs1129649 - LEPREL2 Q8IVL6 VAR_050447 p.Met705Thr Polymorphism rs3213431 - LEPREL4 Q92791 VAR_020417 p.Gln186Arg Polymorphism rs13412 - LEPR P48357 VAR_002703 p.Lys109Arg Polymorphism rs1137100 - LEPR P48357 VAR_002704 p.Lys204Arg Polymorphism - - LEPR P48357 VAR_002705 p.Gln223Arg Polymorphism rs1137101 - LEPR P48357 VAR_002706 p.Lys656Asn Polymorphism rs8179183 - LEPR P48357 VAR_002707 p.Ser675Thr Polymorphism - - LEPR P48357 VAR_028201 p.Ile503Val Polymorphism rs13306526 - LEPR P48357 VAR_049167 p.Asp124Gly Polymorphism rs35573508 - LEPR P48357 VAR_049168 p.Thr699Met Polymorphism rs34499590 - LETMD1 Q6P1Q0 VAR_037033 p.Val84Ile Polymorphism rs12379 - LFNG Q8NES3 VAR_025850 p.Phe188Leu Disease - Spondylocostal dysostosis type 3 (SCDO3) [MIM:609813] LFNG Q8NES3 VAR_046785 p.Gly38Arg Polymorphism - - LFNG Q8NES3 VAR_046786 p.Val346Met Polymorphism - - LGALS14 Q8TCE9 VAR_055245 p.Cys67Arg Polymorphism rs4830 - LGALS14 Q8TCE9 VAR_055246 p.Phe127Leu Polymorphism rs10755 - LGALS2 P05162 VAR_036570 p.Glu132Gln Unclassified - A breast cancer sample LGALS2 P05162 VAR_049767 p.Val119Ile Polymorphism rs2235339 - LGALS3 P17931 VAR_012988 p.Pro64His Polymorphism rs4644 - LGALS3 P17931 VAR_012989 p.Thr98Pro Polymorphism rs4652 - LGALS3 P17931 VAR_049768 p.Arg183Lys Polymorphism rs10148371 - LGALS4 P56470 VAR_049769 p.Thr16Met Polymorphism rs8106404 - LGALS8 O00214 VAR_009710 p.Arg36Cys Polymorphism rs1041935 - LGALS8 O00214 VAR_012990 p.Phe19Tyr Polymorphism rs2737713 - LGALS8 O00214 VAR_012991 p.Met56Val Polymorphism rs1041937 - LGALS8 O00214 VAR_063506 p.Arg184Ser Polymorphism rs2243525 - LGALS9C Q6DKI2 VAR_056004 p.Val126Met Polymorphism rs3907319 - LGALS9 O00182 VAR_020453 p.Gly5Ser Polymorphism rs3751093 - LGI1 O95970 VAR_015771 p.Leu26Arg Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_015772 p.Cys46Arg Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_015773 p.Glu383Ala Disease rs28937874 Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_015774 p.Phe318Cys Disease rs28939075 Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_023008 p.Cys42Gly Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_023009 p.Ser473Leu Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058538 p.Cys42Arg Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058539 p.Ala110Asp Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058540 p.Ile122Lys Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058541 p.Glu123Lys Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058542 p.Arg136Trp Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058543 p.Ser145Arg Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058544 p.Leu154Pro Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058545 p.Cys200Arg Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058546 p.Leu232Pro Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058547 p.Ile298Thr Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI1 O95970 VAR_058548 p.Val432Glu Disease - Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] LGI2 Q8N0V4 VAR_030536 p.Arg444Gln Polymorphism rs2232026 - LGI2 Q8N0V4 VAR_030537 p.Gln452Arg Polymorphism rs2232027 - LGI3 Q8N145 VAR_053488 p.Ala524Thr Polymorphism rs34112456 - LGMN Q99538 VAR_024588 p.Val18Ile Polymorphism rs2236264 - LGR4 Q9BXB1 VAR_044528 p.Ser215Gly Polymorphism rs2448010 - LGR4 Q9BXB1 VAR_044529 p.Asn233Ser Polymorphism rs2472617 - LGR4 Q9BXB1 VAR_044530 p.Ala480Val Polymorphism rs12284579 - LGR4 Q9BXB1 VAR_044531 p.Arg684Gly Polymorphism rs7125959 - LGR4 Q9BXB1 VAR_044532 p.Thr709Met Polymorphism rs34717439 - LGR4 Q9BXB1 VAR_044533 p.Asp844Gly Polymorphism rs34804482 - LGR5 O75473 VAR_049411 p.His383Arg Polymorphism rs12303775 - LGR5 O75473 VAR_049412 p.Val666Ala Polymorphism rs17109924 - LGR6 Q9HBX8 VAR_033479 p.Ala516Ser Polymorphism rs6668765 - LGR6 Q9HBX8 VAR_035762 p.Gly725Cys Unclassified - A colorectal cancer sample LGR6 Q9HBX8 VAR_035763 p.Pro928His Unclassified - A colorectal cancer sample LGR6 Q9HBX8 VAR_049413 p.Asn267Lys Polymorphism rs7553800 - LGR6 Q9HBX8 VAR_059324 p.Val592Ala Polymorphism rs788795 - LGSN Q5TDP6 VAR_054552 p.Asn26Tyr Polymorphism rs2459568 - LGSN Q5TDP6 VAR_054553 p.Gly46Glu Polymorphism rs35691434 - LGSN Q5TDP6 VAR_054554 p.Asn137His Polymorphism rs6454127 - LHB P01229 VAR_003189 p.Gln74Arg Disease rs5030773 Hypogonadism LHB-related (HGON-LHB) [MIM:152780] LHB P01229 VAR_014589 p.Trp28Arg Polymorphism rs1800447 - LHB P01229 VAR_014590 p.Ile35Thr Polymorphism rs34349826 - LHB P01229 VAR_015672 p.Ala18Thr Polymorphism rs5030775 - LHB P01229 VAR_015673 p.Gly122Ser Polymorphism rs5030774 - LHB P01229 VAR_034098 p.Met15Ile Polymorphism rs34247911 - LHCGR P22888 VAR_003550 p.Asn284Ser Polymorphism - - LHCGR P22888 VAR_003551 p.Ser306Asn Polymorphism - - LHCGR P22888 VAR_003552 p.Glu354Lys Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_003553 p.Ala373Val Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003554 p.Met398Thr Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003555 p.Ala568Val Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003556 p.Met571Ile Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003557 p.Ala572Val Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003558 p.Thr577Ile Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003559 p.Asp578Gly Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_003560 p.Ala593Pro Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_003562 p.Ser616Tyr Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_003563 p.Ile625Lys Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_010154 p.Cys131Arg Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_010155 p.Cys343Ser Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_010156 p.Leu457Arg Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010157 p.Ile542Leu Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010158 p.Cys543Arg Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_010159 p.Asp564Gly Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010160 p.Ile575Leu Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010161 p.Asp578Glu Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010162 p.Asp578His Unclassified - Leydig cell tumor LHCGR P22888 VAR_010163 p.Asp578Tyr Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_010164 p.Cys581Arg Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_035764 p.Asp564Asn Unclassified - A breast cancer sample LHCGR P22888 VAR_055922 p.Asn291Ser Polymorphism rs12470652 - LHCGR P22888 VAR_060737 p.Asn312Ser Polymorphism rs2293275 - LHCGR P22888 VAR_062336 p.Val144Phe Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_062337 p.Ile152Thr Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR P22888 VAR_062338 p.Leu368Pro Disease - Familial male precocious puberty (FMPP) [MIM:176410] LHCGR P22888 VAR_062339 p.Leu502Pro Disease - Luteinizing hormone resistance (LHR) [MIM:238320] LHFPL2 Q6ZUX7 VAR_026913 p.Ile102Val Polymorphism rs2303654 - LHFPL5 Q8TAF8 VAR_032055 p.Tyr127Cys Disease - Deafness autosomal recessive type 67 (DFNB67) [MIM:610265] LHFPL5 Q8TAF8 VAR_032056 p.Thr165Met Disease - Deafness autosomal recessive type 67 (DFNB67) [MIM:610265] LHFPL5 Q8TAF8 VAR_032057 p.Arg176Leu Disease - Deafness autosomal recessive type 67 (DFNB67) [MIM:610265] LHPP Q9H008 VAR_035163 p.Gln94Arg Polymorphism rs6597801 - LHX3 Q9UBR4 VAR_010713 p.Tyr111Cys Disease - Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750] LHX3 Q9UBR4 VAR_063240 p.Ala210Val Disease - Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750] LHX4 Q969G2 VAR_046661 p.Asn328Ser Polymorphism rs7536561 - LHX4 Q969G2 VAR_058715 p.Arg84Cys Disease - Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700] LHX4 Q969G2 VAR_058716 p.Leu190Arg Disease - Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700] LHX4 Q969G2 VAR_058717 p.Ala210Pro Disease - Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700] LHX4 Q969G2 VAR_063241 p.Pro389Thr Disease - Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700] LIFR P42702 VAR_021996 p.Ile633Met Polymorphism rs2303743 - LIFR P42702 VAR_025666 p.Ser279Pro Disease - Stueve-Wiedemann syndrome (SWS) [MIM:601559] LIFR P42702 VAR_029109 p.His116Tyr Polymorphism rs3729734 - LIFR P42702 VAR_029110 p.Asp578Asn Polymorphism rs3729740 - LIFR P42702 VAR_029111 p.Val785Ile Polymorphism rs3110234 - LIFR P42702 VAR_036166 p.Phe1068Leu Unclassified - A colorectal cancer sample LIFR P42702 VAR_038626 p.Ser664Leu Polymorphism rs3729744 - LIG1 P18858 VAR_002262 p.Glu566Lys Unclassified - - LIG1 P18858 VAR_002263 p.Arg771Trp Unclassified - - LIG1 P18858 VAR_016766 p.Gly249Glu Polymorphism rs3730911 - LIG1 P18858 VAR_016767 p.Asn267Ser Polymorphism rs3730933 - LIG1 P18858 VAR_016768 p.Arg409His Polymorphism rs4987068 - LIG1 P18858 VAR_016769 p.Met480Val Polymorphism rs3730980 - LIG1 P18858 VAR_016770 p.Thr614Ile Polymorphism rs3731003 - LIG1 P18858 VAR_018802 p.Ala24Val Polymorphism rs3730855 - LIG1 P18858 VAR_018803 p.Arg62Trp Polymorphism rs3730863 - LIG1 P18858 VAR_018804 p.Val349Met Polymorphism rs3730947 - LIG1 P18858 VAR_018805 p.Val369Ile Polymorphism rs3730966 - LIG1 P18858 VAR_018806 p.Arg677Leu Polymorphism rs3731008 - LIG1 P18858 VAR_020194 p.Pro52Leu Polymorphism rs4987181 - LIG1 P18858 VAR_020195 p.Asp72Gly Polymorphism rs4987070 - LIG1 P18858 VAR_036511 p.Lys152Glu Unclassified - A colorectal cancer sample LIG1 P18858 VAR_036512 p.Ser612Leu Unclassified - A colorectal cancer sample LIG3 P49916 VAR_018807 p.Arg867His Polymorphism rs3136025 - LIG3 P49916 VAR_020196 p.Arg224Trp Polymorphism rs3744356 - LIG3 P49916 VAR_020197 p.Pro986Ser Polymorphism rs4986973 - LIG3 P49916 VAR_021938 p.Lys898Thr Polymorphism rs4986974 - LIG3 P49916 VAR_036513 p.Asp717Asn Unclassified - A colorectal cancer sample LIG4 P49917 VAR_012774 p.Arg278His Disease - LIG4 syndrome (LIG4S) [MIM:606593] LIG4 P49917 VAR_012775 p.Gly469Glu Disease - LIG4 syndrome (LIG4S) [MIM:606593] LIG4 P49917 VAR_016771 p.Leu539Phe Polymorphism rs3742212 - LIG4 P49917 VAR_016772 p.Ile658Val Polymorphism rs2232641 - LIG4 P49917 VAR_016773 p.Ala857Thr Polymorphism rs2232642 - LIG4 P49917 VAR_018808 p.Pro231Ser Polymorphism rs3093765 - LIG4 P49917 VAR_029352 p.Ala3Val Polymorphism rs1805389 - LIG4 P49917 VAR_029353 p.Asp62His Polymorphism rs3093763 - LIG4 P49917 VAR_033884 p.Thr9Ile Polymorphism rs1805388 - LIG4 P49917 VAR_044124 p.Glu461Gly Polymorphism rs2232640 - LILRA1 O75019 VAR_049886 p.Ser153Gly Polymorphism rs10417589 - LILRA1 O75019 VAR_049887 p.Leu220Pro Polymorphism rs373854 - LILRA1 O75019 VAR_059396 p.Arg12Gly Polymorphism rs1974982 - LILRA2 Q8N149 VAR_016988 p.His25Leu Polymorphism rs1834697 - LILRA2 Q8N149 VAR_016989 p.His25Asn Polymorphism rs1834698 - LILRA2 Q8N149 VAR_056051 p.Val331Gly Polymorphism rs7249811 - LILRA2 Q8N149 VAR_056052 p.Gly361Ala Polymorphism rs7249154 - LILRA2 Q8N149 VAR_056053 p.Arg381Cys Polymorphism rs7249054 - LILRA3 Q8N6C8 VAR_016990 p.Pro3Ser Polymorphism rs11574606 - LILRA3 Q8N6C8 VAR_016991 p.Leu107Arg Polymorphism rs6509862 - LILRA3 Q8N6C8 VAR_016992 p.Tyr301His Polymorphism rs4473306 - LILRA3 Q8N6C8 VAR_059397 p.Trp307Cys Polymorphism rs1128645 - LILRA4 P59901 VAR_056054 p.Pro27Leu Polymorphism rs2241384 - LILRA4 P59901 VAR_056055 p.Ile155Val Polymorphism rs10419832 - LILRA6 Q6PI73 VAR_033170 p.Leu69Trp Polymorphism rs620207 - LILRA6 Q6PI73 VAR_033171 p.Gly149Arg Polymorphism rs1052966 - LILRA6 Q6PI73 VAR_033172 p.Pro288Arg Polymorphism rs1052975 - LILRA6 Q6PI73 VAR_033173 p.Tyr400His Polymorphism rs8104206 - LILRB1 Q8NHL6 VAR_016993 p.Leu68Pro Polymorphism rs1061679 - LILRB1 Q8NHL6 VAR_016994 p.Ile142Thr Polymorphism rs1061680 - LILRB1 Q8NHL6 VAR_016995 p.Ser155Ile Polymorphism rs1061681 - LILRB1 Q8NHL6 VAR_016996 p.Leu620Phe Polymorphism rs634222 - LILRB1 Q8NHL6 VAR_049888 p.Ala93Thr Polymorphism rs12460501 - LILRB1 Q8NHL6 VAR_059398 p.His301Tyr Polymorphism rs1045818 - LILRB2 Q8N423 VAR_016997 p.His20Arg Polymorphism rs383369 - LILRB2 Q8N423 VAR_016998 p.Glu161Asp Polymorphism rs373032 - LILRB2 Q8N423 VAR_016999 p.His300Tyr Polymorphism rs7247538 - LILRB2 Q8N423 VAR_017000 p.Cys306Trp Polymorphism rs7247451 - LILRB2 Q8N423 VAR_047432 p.Val235Met Polymorphism rs386056 - LILRB2 Q8N423 VAR_047433 p.Thr324Arg Polymorphism rs7247055 - LILRB2 Q8N423 VAR_047434 p.Phe326Ser Polymorphism rs7246737 - LILRB2 Q8N423 VAR_047435 p.Arg349Gly Polymorphism rs7247025 - LILRB2 Q8N423 VAR_061314 p.Arg322His Polymorphism rs1128646 - LILRB2 Q8N423 VAR_061315 p.Asp403Asn Polymorphism rs4993133 - LILRB3 O75022 VAR_017001 p.Val21Met Polymorphism rs1132588 - LILRB3 O75022 VAR_017002 p.Arg59Gln Polymorphism rs678876 - LILRB3 O75022 VAR_017003 p.Leu69Trp Polymorphism rs620207 - LILRB3 O75022 VAR_017004 p.Glu90Gln Polymorphism rs1052963 - LILRB3 O75022 VAR_017005 p.Ser122Asn Polymorphism rs3826750 - LILRB3 O75022 VAR_017006 p.Trp205Gln Polymorphism rs1063805 - LILRB3 O75022 VAR_017007 p.Tyr400Arg Unclassified - - LILRB3 O75022 VAR_017008 p.Tyr400His Polymorphism rs1052992 - LILRB3 O75022 VAR_017009 p.Tyr400Phe Polymorphism rs8105096 - LILRB3 O75022 VAR_017010 p.His405Tyr Polymorphism rs1132604 - LILRB3 O75022 VAR_017012 p.Gln539His Polymorphism rs1053002 - LILRB3 O75022 VAR_017013 p.Val574Ala Polymorphism rs1053008 - LILRB4 Q8NHJ6 VAR_017014 p.Asp223Gly Polymorphism rs731170 - LILRB4 Q8NHJ6 VAR_017015 p.Lys362Glu Polymorphism rs2764337 - LILRB4 Q8NHJ6 VAR_025501 p.Phe5Leu Polymorphism rs28366008 - LILRB4 Q8NHJ6 VAR_025502 p.Arg18Ser Polymorphism rs11574570 - LILRB4 Q8NHJ6 VAR_025503 p.Cys330Tyr Polymorphism rs11574575 - LILRB4 Q8NHJ6 VAR_025504 p.Asn335Asp Polymorphism rs11574576 - LILRB4 Q8NHJ6 VAR_025505 p.Gln414Arg Polymorphism rs1048801 - LILRB4 Q8NHJ6 VAR_030939 p.Lys362Thr Polymorphism rs11574589 - LILRB4 Q8NHJ6 VAR_047846 p.His20Asp Polymorphism rs11540762 - LILRB5 O75023 VAR_061316 p.Asp247Gly Polymorphism rs12975366 - LIMCH1 Q9UPQ0 VAR_033105 p.Met759Thr Polymorphism rs11734372 - LIMD1 Q9UGP4 VAR_021993 p.Gly415Arg Polymorphism rs3733113 - LIMD1 Q9UGP4 VAR_050147 p.Gly36Asp Polymorphism rs2578662 - LIME1 Q9H400 VAR_053918 p.Pro211Leu Polymorphism rs1151625 - LIMK1 P53667 VAR_042246 p.Gly190Ala Polymorphism rs35827364 - LIMK1 P53667 VAR_042247 p.Ser247Asn Polymorphism rs55661242 - LIMK1 P53667 VAR_042248 p.Arg422Gln Polymorphism rs55679316 - LIMK1 P53667 VAR_050148 p.Phe580Tyr Polymorphism rs178412 - LIMK2 P53671 VAR_034069 p.Gly35Ser Polymorphism rs5997917 - LIMK2 P53671 VAR_042249 p.Asp45Asn Polymorphism rs35923988 - LIMK2 P53671 VAR_042250 p.Arg213Cys Polymorphism rs34930775 - LIMK2 P53671 VAR_042251 p.Pro296Arg Polymorphism rs34875793 - LIMK2 P53671 VAR_042252 p.Arg418Cys Polymorphism rs35422808 - LIMK2 P53671 VAR_050149 p.Arg381His Polymorphism rs2229874 - LIN37 Q96GY3 VAR_051093 p.Pro172Ser Polymorphism rs35617825 - LIN37 Q96GY3 VAR_061674 p.Ala16Val Polymorphism rs170758 - LINC00114 Q6XXX2 VAR_026884 p.Ser21Thr Polymorphism rs2836662 - LINC00114 Q6XXX2 VAR_026885 p.Asn39Lys Polymorphism rs11908799 - LINC00114 Q6XXX2 VAR_026886 p.Ala52Ser Polymorphism rs11908743 - LINC00114 Q6XXX2 VAR_026887 p.Met104Arg Polymorphism rs16996776 - LINC00271 P0C7V0 VAR_056807 p.Ala112Glu Polymorphism rs13197384 - LINC00303 Q3SY05 VAR_047356 p.Val98Ala Polymorphism rs4951039 - LINC00314 P59092 VAR_020098 p.Cys49Tyr Polymorphism rs2831368 - LINC00322 Q6ZN03 VAR_050931 p.Leu116Phe Polymorphism rs564352 - LINC00322 Q6ZN03 VAR_050932 p.Ala149Thr Polymorphism rs2838262 - LINC00324 Q8NAT9 VAR_029601 p.Arg32Met Polymorphism rs1017522 - LINC00336 Q6ZUF6 VAR_046183 p.Ser13Arg Polymorphism rs7759154 - LINC00336 Q6ZUF6 VAR_046184 p.Leu73Pro Polymorphism rs210162 - LINC00336 Q6ZUF6 VAR_046185 p.Pro84Ser Polymorphism rs9469517 - LINC00346 Q8IVM7 VAR_029613 p.Arg154Gln Polymorphism rs9588286 - LINC00482 Q8N8I6 VAR_032158 p.Val50Leu Polymorphism rs2056439 - LINC00482 Q8N8I6 VAR_032159 p.Arg119Cys Polymorphism rs2048058 - LINC00518 Q8N0U6 VAR_034646 p.Tyr106Cys Polymorphism rs303061 - LINC00523 Q86TU6 VAR_029588 p.Glu21Asp Polymorphism rs8011237 - LINC00526 Q96FQ7 VAR_050902 p.Pro16Ala Polymorphism rs7242964 - LINC00574 Q9H8X3 VAR_024304 p.Trp91Arg Polymorphism rs1078211 - LINC00574 Q9H8X3 VAR_024305 p.Lys119Arg Polymorphism rs1078208 - LINC00574 Q9H8X3 VAR_033682 p.Ser27Cys Polymorphism rs6926145 - LINC00846 Q9NV44 VAR_018108 p.Glu2Gly Polymorphism rs928777 - LINGO1 Q96FE5 VAR_042436 p.Ser183Phe Polymorphism rs9855 - LINGO2 Q7L985 VAR_039798 p.Arg507His Polymorphism rs17506843 - LINGO3 P0C6S8 VAR_059395 p.Arg426His Polymorphism rs7258841 - LINS Q8NG48 VAR_038668 p.Ile29Val Polymorphism rs11247226 - LINS Q8NG48 VAR_038669 p.Ala331Val Polymorphism rs34967129 - LINS Q8NG48 VAR_038670 p.Val406Met Polymorphism rs12719734 - LINS Q8NG48 VAR_038671 p.Ser472Thr Polymorphism rs2411837 - LINS Q8NG48 VAR_038672 p.Ile541Val Polymorphism rs12915007 - LINS Q8NG48 VAR_038673 p.Glu641Asp Polymorphism rs12157 - LINS Q8NG48 VAR_038674 p.Arg680Ser Polymorphism rs8451 - LIPA P38571 VAR_004247 p.Thr16Pro Polymorphism rs1051338 - LIPA P38571 VAR_004248 p.His129Pro Disease - Cholesteryl ester storage disease (CESD) [MIM:278000] LIPA P38571 VAR_004249 p.His129Arg Disease - Cholesteryl ester storage disease (CESD) [MIM:278000] LIPA P38571 VAR_004250 p.Leu200Pro Disease - Cholesteryl ester storage disease (CESD) [MIM:278000] LIPA P38571 VAR_004250 p.Leu200Pro Disease - Wolman disease (WOD) [MIM:278000] LIPA P38571 VAR_026523 p.Gly23Arg Polymorphism rs1051339 - LIPA P38571 VAR_026524 p.Val29Leu Polymorphism rs17850891 - LIPA P38571 VAR_049821 p.Phe228Ser Polymorphism rs2228159 - LIPC P11150 VAR_004206 p.Val95Met Polymorphism rs6078 - LIPC P11150 VAR_004208 p.Asn215Ser Polymorphism rs6083 - LIPC P11150 VAR_004209 p.Ser289Phe Disease - Hepatic lipase deficiency (HL deficiency) [MIM:614025] LIPC P11150 VAR_004210 p.Thr405Met Disease rs28933094 Hepatic lipase deficiency (HL deficiency) [MIM:614025] LIPC P11150 VAR_014179 p.Ser440Asn Polymorphism rs6079 - LIPC P11150 VAR_017024 p.Val342Ile Polymorphism - - LIPC P11150 VAR_017025 p.Phe356Leu Polymorphism rs3829462 - LIPC P11150 VAR_017026 p.Asp409Ala Polymorphism - - LIPE Q05469 VAR_025108 p.Tyr100His Polymorphism rs16975750 - LIPE Q05469 VAR_025109 p.Gln127His Polymorphism rs34080774 - LIPE Q05469 VAR_025110 p.Pro146Ser Polymorphism rs34348028 - LIPE Q05469 VAR_025111 p.Ser177Thr Polymorphism rs16975748 - LIPE Q05469 VAR_025112 p.Ala194Val Polymorphism rs34996020 - LIPE Q05469 VAR_025113 p.Arg217Gln Polymorphism rs3745238 - LIPE Q05469 VAR_025114 p.Lys497Asn Polymorphism rs35938529 - LIPE Q05469 VAR_025115 p.Asn499His Polymorphism rs33921216 - LIPE Q05469 VAR_025116 p.Arg938Ser Polymorphism rs7246232 - LIPE Q05469 VAR_036539 p.Pro146Gln Unclassified - A breast cancer sample LIPF P07098 VAR_011947 p.Thr161Ala Polymorphism rs814628 - LIPF P07098 VAR_020565 p.Phe224Ile Polymorphism rs6586145 - LIPF P07098 VAR_020566 p.Pro348Thr Polymorphism rs17333991 - LIPG Q9Y5X9 VAR_017027 p.Gly96Ser Polymorphism - - LIPG Q9Y5X9 VAR_017028 p.Thr111Ile Polymorphism rs2000813 - LIPG Q9Y5X9 VAR_017029 p.Arg312His Polymorphism - - LIPG Q9Y5X9 VAR_034082 p.Gly26Ser Polymorphism rs9963243 - LIPH Q8WWY8 VAR_059050 p.Trp108Arg Disease - Hypotrichosis type 7 (HYPT7) [MIM:604379] LIPH Q8WWY8 VAR_059050 p.Trp108Arg Disease - Woolly hair autosomal recessive type 2 (ARWH2) [MIM:604379] LIPI Q6XZB0 VAR_023760 p.Cys55Tyr Unclassified - - LIPI Q6XZB0 VAR_023761 p.Gly364Glu Polymorphism - - LIPI Q6XZB0 VAR_023762 p.Glu431Lys Polymorphism - - LIPI Q6XZB0 VAR_023763 p.Asp444Glu Polymorphism - - LIPJ Q5W064 VAR_032543 p.Ile210Val Polymorphism rs1409136 - LIPK Q5VXJ0 VAR_032160 p.Met331Ile Polymorphism rs1214464 - LIPK Q5VXJ0 VAR_032161 p.Ile391Thr Polymorphism rs17112457 - LIPM Q5VYY2 VAR_032191 p.Arg418Trp Polymorphism rs11202862 - LIPM Q5VYY2 VAR_059382 p.Leu274Ser Polymorphism rs3910680 - LIPN Q5VXI9 VAR_032192 p.Thr244Asn Polymorphism rs10788611 - LITAF Q99732 VAR_024014 p.Tyr23His Unclassified - One EMPD primary tumor LITAF Q99732 VAR_024015 p.Thr49Met Disease - Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] LITAF Q99732 VAR_024016 p.Ile92Val Polymorphism rs4280262 - LITAF Q99732 VAR_024017 p.Gly112Ser Disease - Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] LITAF Q99732 VAR_024018 p.Thr115Asn Disease - Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] LITAF Q99732 VAR_024019 p.Trp116Gly Disease - Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] LITAF Q99732 VAR_024020 p.Leu122Val Disease - Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] LIX1 Q8N485 VAR_026039 p.Arg3Ile Polymorphism rs11558079 - LLGL1 Q15334 VAR_058710 p.Ser148Gly Polymorphism rs2290505 - LLGL1 Q15334 VAR_058711 p.Gln550His Polymorphism rs1063683 - LLGL2 Q6P1M3 VAR_034058 p.Arg748His Polymorphism rs35474687 - LLGL2 Q6P1M3 VAR_034059 p.Gly1001Ser Polymorphism rs35886912 - LLGL2 Q6P1M3 VAR_050069 p.Arg45His Polymorphism rs1671036 - LLGL2 Q6P1M3 VAR_050070 p.Phe479Leu Polymorphism rs1671021 - LLGL2 Q6P1M3 VAR_050071 p.Pro488Leu Polymorphism rs35991442 - LLGL2 Q6P1M3 VAR_050072 p.Leu490Pro Polymorphism rs1671021 - LLGL2 Q6P1M3 VAR_050073 p.Pro759Ser Polymorphism rs1661715 - LLGL2 Q6P1M3 VAR_050075 p.Pro790Leu Polymorphism rs1661714 - LMAN1L Q9HAT1 VAR_049771 p.Arg105Gln Polymorphism rs3803568 - LMAN1L Q9HAT1 VAR_049772 p.Arg517Ser Polymorphism rs1060480 - LMAN1 P49257 VAR_013703 p.Arg14Gln Polymorphism rs1043302 - LMAN1 P49257 VAR_013704 p.Val39Ala Polymorphism rs33926449 - LMAN1 P49257 VAR_013705 p.Met410Leu Polymorphism rs2298711 - LMAN1 P49257 VAR_049770 p.Ile355Thr Polymorphism rs3737392 - LMBR1 Q8WVP7 VAR_031900 p.Thr228Ala Polymorphism rs6957768 - LMBRD1 Q9NUN5 VAR_029047 p.Thr144Ala Polymorphism rs12214456 - LMBRD1 Q9NUN5 VAR_029048 p.Ile395Val Polymorphism rs17854411 - LMBRD1 Q9NUN5 VAR_029049 p.Asp469Glu Polymorphism rs9354880 - LMF1 Q96S06 VAR_030487 p.Ser203Pro Polymorphism rs11540337 - LMF1 Q96S06 VAR_030488 p.Pro562Arg Polymorphism rs4984948 - LMF1 Q96S06 VAR_053829 p.Val164Ala Polymorphism rs35663121 - LMF1 Q96S06 VAR_053830 p.Arg364Gln Polymorphism rs35168378 - LMF2 Q9BU23 VAR_039803 p.Pro68Leu Unclassified - A breast cancer sample LMF2 Q9BU23 VAR_039804 p.Thr479Met Polymorphism rs8136495 - LMLN Q96KR4 VAR_060158 p.Glu106Asp Polymorphism rs7373165 - LMNA P02545 VAR_009971 p.Tyr45Cys Disease rs58436778 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009972 p.Arg50Pro Disease rs60695352 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009972 p.Arg50Pro Disease rs60695352 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_009974 p.Ile63Ser Disease rs57793737 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009975 p.Leu85Arg Disease rs28933090 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_009977 p.Asn195Lys Disease rs28933091 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_009978 p.Glu203Gly Disease rs28933092 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_009979 p.His222Tyr Disease rs28928901 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009980 p.Arg249Gln Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009982 p.Gln294Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009983 p.Arg336Gln Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009984 p.Arg343Gln Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009985 p.Glu358Lys Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009985 p.Glu358Lys Disease - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_009986 p.Met371Lys Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009987 p.Arg386Lys Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009988 p.Arg453Trp Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009989 p.Gly465Asp Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009990 p.Ile469Thr Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009991 p.Arg482Leu Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009992 p.Arg482Gln Disease rs11575937 Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009993 p.Arg482Trp Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009994 p.Lys486Asn Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009995 p.Arg527Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009995 p.Arg527Pro Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_009996 p.Thr528Lys Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009997 p.Leu530Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_009998 p.Arg582His Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_016205 p.Arg377His Disease - Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001] LMNA P02545 VAR_016913 p.Arg133Leu Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_017656 p.Ala57Pro Disease rs28928903 Cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] LMNA P02545 VAR_017657 p.Arg133Pro Disease rs60864230 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_017658 p.Leu140Arg Disease rs60652225 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_017659 p.Glu145Lys Disease rs60310264 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_017660 p.Glu161Lys Disease rs28933093 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_017661 p.Arg298Cys Disease - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588] LMNA P02545 VAR_017662 p.Arg471Cys Disease rs28928902 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_017663 p.Arg527Cys Disease - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_017664 p.Gly608Ser Disease - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_018727 p.Arg527His Disease - Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] LMNA P02545 VAR_034706 p.Arg60Gly Disease rs28928900 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_034706 p.Arg60Gly Disease rs28928900 Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_034707 p.Ser143Phe Disease rs58912633 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_034709 p.Ala529Val Disease - Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] LMNA P02545 VAR_034710 p.Lys542Asn Disease - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA P02545 VAR_039745 p.Thr10Ile Polymorphism rs57077886 - LMNA P02545 VAR_039746 p.Arg25Gly Disease rs58327533 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039747 p.Arg25Pro Disease rs61578124 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039748 p.Arg28Trp Disease rs59914820 Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039750 p.Glu33Asp Polymorphism rs57966821 - LMNA P02545 VAR_039751 p.Glu33Gly Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039752 p.Leu35Val Disease rs56694480 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039753 p.Ala43Thr Disease rs60446065 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039754 p.Arg50Ser Disease rs59931416 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039755 p.Arg62Gly Disease rs56793579 Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039756 p.Ile63Asn Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039757 p.Glu65Gly Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039758 p.Arg89Leu Disease rs59040894 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039759 p.Lys97Glu Disease rs59065411 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039760 p.Leu140Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039761 p.Ser143Pro Disease rs61661343 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039762 p.Thr150Pro Disease rs58917027 Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039763 p.Arg190Gln Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039764 p.Arg190Trp Disease rs59026483 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039765 p.Asp192Gly Disease rs57045855 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039767 p.Glu203Lys Disease rs61195471 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039768 p.Leu215Pro Disease - Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039769 p.His222Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039770 p.Asp230Asn Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039771 p.Gly232Glu Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039772 p.Leu248Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039773 p.Lys260Asn Unclassified - - LMNA P02545 VAR_039774 p.Tyr267Cys Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039775 p.Glu317Lys Disease - Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039776 p.Arg349Leu Disease - Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039777 p.Arg377Leu Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039777 p.Arg377Leu Disease - Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001] LMNA P02545 VAR_039778 p.Arg399Cys Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039779 p.Arg435Cys Disease - Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039780 p.Asp446Val Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039781 p.Asn456Ile Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039782 p.Asn456Lys Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039783 p.Tyr481His Disease - Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001] LMNA P02545 VAR_039784 p.Trp520Ser Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039785 p.Thr528Arg Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039786 p.Arg541Cys Unclassified - - LMNA P02545 VAR_039787 p.Arg541His Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039788 p.Arg541Ser Disease - Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039788 p.Arg541Ser Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039789 p.Ser573Leu Disease - Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] LMNA P02545 VAR_039789 p.Ser573Leu Disease - Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] LMNA P02545 VAR_039789 p.Ser573Leu Disease - Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] LMNA P02545 VAR_039790 p.Glu578Val Unclassified - - LMNA P02545 VAR_039791 p.Arg624His Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_039792 p.Arg644Cys Unclassified - - LMNA P02545 VAR_063588 p.Asn39Ser Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_063588 p.Asn39Ser Disease - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063589 p.Arg249Trp Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_063589 p.Arg249Trp Disease - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063590 p.Leu302Pro Disease - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063591 p.Leu380Ser Disease - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063592 p.Arg453Pro Disease - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063593 p.Arg455Pro Disease - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_063594 p.Asn456Asp Disease - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA P02545 VAR_064055 p.Leu59Arg Disease - Cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] LMNA P02545 VAR_064962 p.Arg189Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064964 p.Phe206Leu Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064965 p.Ser268Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064966 p.Leu271Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064967 p.Ser295Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064968 p.Ser303Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064970 p.Glu361Lys Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064971 p.Gly449Asp Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064972 p.Leu454Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064973 p.Asp461Tyr Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064974 p.Trp467Arg Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064975 p.Arg541Pro Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNA P02545 VAR_064976 p.Gly602Ser Disease - Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] LMNB1 P20700 VAR_031646 p.Ala501Val Polymorphism rs36105360 - LMNB2 Q03252 VAR_031063 p.Arg215Gln Disease rs61726481 Partial acquired lipodystrophy (APLD) [MIM:608709] LMNB2 Q03252 VAR_031064 p.Ala407Thr Disease rs57521499 Partial acquired lipodystrophy (APLD) [MIM:608709] LMNB2 Q03252 VAR_036370 p.Arg216Trp Unclassified - A colorectal cancer sample LMO7 Q8WWI1 VAR_036189 p.Thr354Ala Unclassified - A colorectal cancer sample LMO7 Q8WWI1 VAR_036190 p.Leu785Met Unclassified - A colorectal cancer sample LMO7 Q8WWI1 VAR_056163 p.Pro1547Gln Polymorphism rs7988661 - LMOD1 P29536 VAR_021839 p.Thr295Met Polymorphism rs2820312 - LMOD3 Q0VAK6 VAR_029088 p.Ala560Val Polymorphism rs17005363 - LMOD3 Q0VAK6 VAR_034083 p.Lys438Met Polymorphism rs6810145 - LMOD3 Q0VAK6 VAR_052401 p.Ile263Thr Polymorphism rs9835034 - LMOD3 Q0VAK6 VAR_061863 p.Arg83His Polymorphism rs35740823 - LMTK2 Q8IWU2 VAR_028940 p.Pro30Ala Polymorphism rs3735252 - LMTK2 Q8IWU2 VAR_028941 p.Leu780Met Polymorphism rs11765552 - LMTK2 Q8IWU2 VAR_028942 p.Asp1061Asn Polymorphism rs3801295 - LMTK2 Q8IWU2 VAR_041727 p.Asp484His Unclassified - A lung large cell carcinoma sample LMTK2 Q8IWU2 VAR_041728 p.Val595Ile Polymorphism rs34461195 - LMTK2 Q8IWU2 VAR_041729 p.Val624Met Polymorphism rs34628253 - LMTK2 Q8IWU2 VAR_041730 p.Ile693Thr Polymorphism rs56204700 - LMTK2 Q8IWU2 VAR_041731 p.Val849Phe Polymorphism rs56196840 - LMTK2 Q8IWU2 VAR_041732 p.Ala862Thr Polymorphism rs34005293 - LMTK2 Q8IWU2 VAR_041733 p.Ser916Arg Polymorphism rs55867257 - LMTK2 Q8IWU2 VAR_041734 p.Asp1220Asn Polymorphism rs35912712 - LMTK2 Q8IWU2 VAR_041735 p.Ala1341Gly Polymorphism rs56343792 - LMTK2 Q8IWU2 VAR_041736 p.Ser1401Asn Polymorphism rs45488394 - LMTK3 Q96Q04 VAR_028943 p.Leu929Val Polymorphism rs1643478 - LMTK3 Q96Q04 VAR_057116 p.Val900Leu Polymorphism rs1643478 - LMX1B O60663 VAR_004198 p.Cys95Phe Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004199 p.Cys142Trp Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004200 p.Arg200Gln Disease rs28939692 Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004201 p.Ala213Pro Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004202 p.Ser218Pro Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004203 p.Arg226Pro Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004204 p.Ala230Val Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_004205 p.Asn246Lys Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015190 p.His54Asn Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015191 p.Leu58Trp Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015192 p.Cys60Phe Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015193 p.Cys60Trp Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015194 p.Cys80Trp Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015195 p.Cys95Tyr Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015196 p.His114Tyr Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015197 p.Cys117Tyr Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015198 p.Trp243Cys Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015201 p.Cys36Arg Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015202 p.Cys36Ser Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015203 p.His54Gln Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015204 p.His54Tyr Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015205 p.Cys57Arg Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015206 p.Cys60Gly Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015207 p.Cys60Tyr Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015208 p.Cys63Arg Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015209 p.Asp83Gly Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015210 p.Cys120Ser Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015211 p.Cys123Phe Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015212 p.Cys123Tyr Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_015213 p.Leu229Pro Disease - Nail-patella syndrome (NPS) [MIM:161200] LMX1B O60663 VAR_047755 p.Ser52Phe Polymorphism rs2235058 - LNPEP Q9UIQ6 VAR_012812 p.Ala763Thr Polymorphism rs2303138 - LNPEP Q9UIQ6 VAR_031616 p.Ser86Pro Polymorphism rs3797799 - LNPEP Q9UIQ6 VAR_031617 p.Ile963Val Polymorphism rs11746232 - LNPEP Q9UIQ6 VAR_051567 p.Asn594Ile Polymorphism rs12520455 - LNPEP Q9UIQ6 VAR_051568 p.Ser913Thr Polymorphism rs17087233 - LNX2 Q8N448 VAR_024612 p.Ser198Pro Polymorphism rs8002697 - LOH12CR1 Q969J3 VAR_038840 p.Ser41Cys Polymorphism rs3741795 - LOH12CR1 Q969J3 VAR_038841 p.Asp191Asn Polymorphism rs3751262 - LONP1 P36776 VAR_051564 p.Glu87Asp Polymorphism rs34413649 - LONP1 P36776 VAR_051565 p.Arg241Gln Polymorphism rs11085147 - LONRF1 Q17RB8 VAR_058706 p.Ile265Leu Polymorphism rs1139354 - LONRF2 Q1L5Z9 VAR_030590 p.Leu183Pro Polymorphism rs4851287 - LONRF2 Q1L5Z9 VAR_035953 p.Arg562Trp Unclassified - A colorectal cancer sample LONRF2 Q1L5Z9 VAR_054639 p.Leu426Pro Polymorphism rs4851287 - LONRF3 Q496Y0 VAR_035954 p.Ala122Gly Unclassified - A breast cancer sample LOR P23490 VAR_047712 p.Ser29Gly Polymorphism rs6661601 - LOR P23490 VAR_061676 p.Ser285Phe Polymorphism rs56816110 - LOXHD1 Q8IVV2 VAR_056923 p.Val85Ile Polymorphism rs10163657 - LOXHD1 Q8IVV2 VAR_056924 p.Gly348Cys Polymorphism rs34589386 - LOXHD1 Q8IVV2 VAR_056925 p.Gly354Cys Polymorphism rs35088381 - LOXHD1 Q8IVV2 VAR_056926 p.Asp398Gly Polymorphism rs16978578 - LOXHD1 Q8IVV2 VAR_056927 p.Val547Met Polymorphism rs36086089 - LOXHD1 Q8IVV2 VAR_056928 p.Thr1105Met Polymorphism rs7244681 - LOXHD1 Q8IVV2 VAR_056929 p.Glu1345Gly Polymorphism rs12606417 - LOXL1 Q08397 VAR_022135 p.Gly153Asp Polymorphism rs3825942 - LOXL1 Q08397 VAR_028436 p.Arg141Leu Polymorphism rs1048661 - LOXL2 Q9Y4K0 VAR_024527 p.Met570Leu Polymorphism rs1063582 - LOXL2 Q9Y4K0 VAR_050009 p.Ser308Arg Polymorphism rs4871866 - LOXL2 Q9Y4K0 VAR_050010 p.Ser359Trp Polymorphism rs4602894 - LOXL3 P58215 VAR_050011 p.Ile615Phe Polymorphism rs17010021 - LOXL4 Q96JB6 VAR_050012 p.Arg154Gln Polymorphism rs33995374 - LOXL4 Q96JB6 VAR_050013 p.Asp405Ala Polymorphism rs1983864 - LOXL4 Q96JB6 VAR_059431 p.Pro372Thr Polymorphism rs11189525 - LOX P28300 VAR_004282 p.Arg158Gln Polymorphism rs1800449 - LPAL2 Q16609 VAR_051100 p.Thr91Met Polymorphism rs7749199 - LPA P08519 VAR_006633 p.Trp4193Arg Unclassified - - LPA P08519 VAR_047293 p.Arg3498Gln Polymorphism rs41259144 - LPA P08519 VAR_047294 p.Leu3866Val Polymorphism rs7765803 - LPA P08519 VAR_047295 p.Leu3880Val Polymorphism rs7765781 - LPA P08519 VAR_047296 p.Thr3907Pro Polymorphism rs41272110 - LPA P08519 VAR_047297 p.Arg3929Gln Polymorphism rs41272112 - LPA P08519 VAR_047298 p.Met4106Thr Polymorphism rs41264308 - LPA P08519 VAR_047299 p.Met4187Thr Polymorphism rs1801693 - LPA P08519 VAR_047300 p.Gly4330Ala Polymorphism rs41265936 - LPA P08519 VAR_047301 p.Ile4399Met Polymorphism rs3798220 - LPA P08519 VAR_047302 p.Arg4524Cys Polymorphism rs3124784 - LPAR1 Q92633 VAR_049414 p.Asn77Ser Polymorphism rs11542862 - LPAR3 Q9UBY5 VAR_049415 p.Arg231Gln Polymorphism rs35745543 - LPAR6 P43657 VAR_016253 p.Cys137Trp Polymorphism rs4151553 - LPAR6 P43657 VAR_022636 p.Ile33Val Polymorphism rs1060585 - LPAR6 P43657 VAR_044326 p.Asp63Val Disease - Woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150] LPAR6 P43657 VAR_044327 p.Ile188Phe Disease - Woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150] LPAR6 P43657 VAR_044328 p.Glu189Lys Disease - Woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150] LPAR6 P43657 VAR_049430 p.Trp307Cys Polymorphism rs17071686 - LPCAT2 Q7L5N7 VAR_027058 p.Met163Ile Polymorphism rs837550 - LPCAT3 Q6P1A2 VAR_050027 p.Phe63Leu Polymorphism rs34196984 - LPCAT3 Q6P1A2 VAR_050028 p.Ile217Thr Polymorphism rs1984564 - LPHN1 O94910 VAR_049463 p.Glu595Gln Polymorphism rs34759320 - LPHN3 Q9HAR2 VAR_055934 p.Arg465Gln Polymorphism rs35106420 - LPHN3 Q9HAR2 VAR_064477 p.Ala247Ser Polymorphism - - LPHN3 Q9HAR2 VAR_064478 p.Thr770Met Polymorphism - - LPHN3 Q9HAR2 VAR_064479 p.Leu915Val Polymorphism - - LPIN1 Q14693 VAR_013885 p.Pro610Ser Polymorphism rs4669781 - LPIN1 Q14693 VAR_035874 p.Gly56Glu Unclassified - A colorectal cancer sample LPIN1 Q14693 VAR_054878 p.Ser637Thr Polymorphism rs17852755 - LPIN2 Q92539 VAR_023817 p.Ser734Leu Disease - Majeed syndrome (MAJEEDS) [MIM:609628] LPIN3 Q9BQK8 VAR_053489 p.Gln679His Polymorphism rs12625565 - LPL P06858 VAR_004211 p.Arg102Ser Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004212 p.Trp113Gly Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004213 p.Trp113Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004214 p.His163Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004215 p.Gly169Glu Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004216 p.Gly181Ser Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004217 p.Asp183Gly Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004218 p.Asp183Asn Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004219 p.Pro184Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004220 p.Ala185Thr Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004221 p.Ser199Cys Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004222 p.Ala203Thr Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004223 p.Asp207Glu Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004224 p.His210Gln Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004225 p.Gly215Glu Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004226 p.Ser220Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004227 p.Ile221Thr Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004228 p.Gly222Glu Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004229 p.Asp231Glu Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004230 p.Ile232Ser Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004231 p.Pro234Leu Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004232 p.Cys243Ser Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004233 p.Arg270His Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004234 p.Ser271Thr Disease rs28934893 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004235 p.Asp277Asn Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004236 p.Ser278Cys Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004237 p.Ser286Gly Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004238 p.Ser286Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004239 p.Asn318Ser Disease rs268 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004240 p.Met328Thr Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004241 p.Leu330Pro Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004242 p.Ala361Thr Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004243 p.Leu392Val Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004245 p.Glu437Lys Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_004246 p.Glu437Val Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_011948 p.Asp36Asn Disease rs1801177 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_011949 p.Ala288Thr Polymorphism rs1800011 - LPL P06858 VAR_011950 p.Val370Met Polymorphism rs298 - LPL P06858 VAR_011951 p.Thr379Ala Polymorphism rs300 - LPL P06858 VAR_011952 p.Ala427Thr Polymorphism rs5934 - LPL P06858 VAR_049819 p.His71Gln Polymorphism rs11542065 - LPL P06858 VAR_057914 p.Asn70Ser Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057915 p.Val96Leu Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057916 p.Ala98Thr Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057917 p.Thr128Ala Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057918 p.Gly132Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057919 p.Gly181Val Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057920 p.Asp183His Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057921 p.Gly186Glu Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057922 p.Glu190Gly Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057923 p.Asp201Val Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057924 p.Val208Ile Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057925 p.His210Asp Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057926 p.Gly215Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057927 p.Lys225Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057928 p.Val227Ala Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057929 p.Ile252Thr Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057930 p.Cys266Trp Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057931 p.Arg270Cys Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057932 p.Leu279Arg Disease rs35414700 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057933 p.Leu279Val Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057934 p.Tyr289His Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057935 p.Phe297Leu Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057936 p.Leu303Phe Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057937 p.Cys305Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057938 p.Cys310Tyr Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057939 p.Leu313Pro Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057940 p.Ser325Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057941 p.Met328Arg Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057942 p.Leu330Phe Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057943 p.Ser365Phe Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057944 p.Cys445Tyr Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPL P06858 VAR_057945 p.Glu448Lys Disease - Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] LPO P22079 VAR_018809 p.Thr105Ile Polymorphism rs8178318 - LPO P22079 VAR_018810 p.Ala244Thr Polymorphism rs8178338 - LPO P22079 VAR_018811 p.Arg414Gln Polymorphism rs8178355 - LPO P22079 VAR_018812 p.Val421Met Polymorphism rs2301870 - LPO P22079 VAR_018813 p.Arg514Gln Polymorphism rs8178401 - LPO P22079 VAR_018814 p.Ile614Thr Polymorphism rs8178408 - LPO P22079 VAR_018815 p.Asp700Asn Polymorphism rs8178412 - LPP Q93052 VAR_034070 p.Tyr346His Polymorphism rs7645635 - LPP Q93052 VAR_050150 p.Thr146Ala Polymorphism rs35417432 - LPP Q93052 VAR_050151 p.Ser259Pro Polymorphism rs35940579 - LPPR2 Q96GM1 VAR_038546 p.Thr155Met Unclassified - A colorectal cancer sample LPPR3 Q6T4P5 VAR_038544 p.Ile193Thr Polymorphism rs1540615 - LPPR3 Q6T4P5 VAR_038545 p.Ala690Val Polymorphism rs3746136 - LPPR4 Q7Z2D5 VAR_050618 p.Gln2Lys Polymorphism rs712896 - LPPR4 Q7Z2D5 VAR_050619 p.Ala32Val Polymorphism rs35285687 - LPXN O60711 VAR_050152 p.Pro148Thr Polymorphism rs12271558 - LRAT O95237 VAR_018386 p.Ser175Arg Disease - Leber congenital amaurosis type 14 (LCA14) [MIM:613341] LRAT O95237 VAR_063559 p.Pro173Leu Polymorphism - - LRBA P50851 VAR_022028 p.Ser2809Leu Polymorphism rs2290846 - LRBA P50851 VAR_035883 p.Gln2038His Unclassified - A breast cancer sample LRBA P50851 VAR_035884 p.Gly2274Arg Unclassified - A breast cancer sample LRBA P50851 VAR_035885 p.Thr2701Lys Unclassified - A breast cancer sample LRBA P50851 VAR_057605 p.Ala1090Gly Polymorphism rs1782360 - LRBA P50851 VAR_057606 p.Gly1230Asp Polymorphism rs34708681 - LRBA P50851 VAR_057607 p.Asn1677Ser Polymorphism rs17027133 - LRBA P50851 VAR_057608 p.Arg1997Cys Polymorphism rs35879351 - LRBA P50851 VAR_057609 p.Ala2704Thr Polymorphism rs3749574 - LRBA P50851 VAR_057610 p.Leu2713Phe Polymorphism rs34662958 - LRCH1 Q9Y2L9 VAR_051133 p.Ser234Pro Polymorphism rs842381 - LRCH1 Q9Y2L9 VAR_051134 p.Ala486Ser Polymorphism rs11617392 - LRCH3 Q96II8 VAR_056931 p.Pro522Leu Polymorphism rs36078463 - LRCH4 O75427 VAR_051135 p.Val642Met Polymorphism rs3197597 - LRFN2 Q9ULH4 VAR_049894 p.Asp770Asn Polymorphism rs3734559 - LRFN3 Q9BTN0 VAR_049895 p.Ala14Val Polymorphism rs34933126 - LRFN4 Q6PJG9 VAR_024499 p.Val340Ala Polymorphism rs3741194 - LRG1 P02750 VAR_024245 p.Pro133Ser Polymorphism rs966384 - LRG1 P02750 VAR_050629 p.Gly64Ser Polymorphism rs7251081 - LRGUK Q96M69 VAR_040063 p.Asp302Tyr Polymorphism rs17167553 - LRGUK Q96M69 VAR_040064 p.Ala661Val Polymorphism rs35149449 - LRIF1 Q5T3J3 VAR_027599 p.Ser599Pro Polymorphism rs2232045 - LRIF1 Q5T3J3 VAR_027600 p.Ile641Met Polymorphism rs2232047 - LRIF1 Q5T3J3 VAR_050703 p.Ala438Thr Polymorphism rs2232041 - LRIG1 Q96JA1 VAR_031581 p.Met615Val Polymorphism rs2306272 - LRIG1 Q96JA1 VAR_031582 p.Gly926Ser Polymorphism rs9877201 - LRIG1 Q96JA1 VAR_031583 p.Ala957Thr Polymorphism rs332373 - LRIG1 Q96JA1 VAR_031584 p.Pro1031Arg Polymorphism rs332374 - LRIG1 Q96JA1 VAR_031585 p.Gln1053Pro Polymorphism rs2279290 - LRIG1 Q96JA1 VAR_049889 p.Leu24Val Polymorphism rs1403626 - LRIG1 Q96JA1 VAR_049890 p.Gly993Ala Polymorphism rs2279289 - LRIT1 Q9P2V4 VAR_020081 p.Ser591Gly Polymorphism rs3814211 - LRIT1 Q9P2V4 VAR_049891 p.Leu154Met Polymorphism rs11200933 - LRIT1 Q9P2V4 VAR_049892 p.Pro258Gln Polymorphism rs7090059 - LRIT1 Q9P2V4 VAR_049893 p.Pro389Thr Polymorphism rs12262099 - LRIT2 A6NDA9 VAR_036935 p.Cys28Tyr Polymorphism rs12773843 - LRIT2 A6NDA9 VAR_036936 p.Lys179Asn Polymorphism rs11200927 - LRIT2 A6NDA9 VAR_036937 p.Leu220Phe Polymorphism rs11200925 - LRIT2 A6NDA9 VAR_036938 p.Val496Ala Polymorphism rs12217769 - LRIT2 A6NDA9 VAR_036939 p.Thr510Pro Polymorphism rs6585847 - LRIT3 Q3SXY7 VAR_036927 p.Met336Leu Polymorphism rs764205 - LRIT3 Q3SXY7 VAR_036928 p.Ala486Thr Polymorphism rs2347131 - LRIT3 Q3SXY7 VAR_036929 p.Thr503Met Polymorphism rs2347132 - LRIT3 Q3SXY7 VAR_061317 p.Ser175Asn Polymorphism rs4698797 - LRMP Q12912 VAR_054545 p.Thr94Ala Polymorphism rs6487451 - LRMP Q12912 VAR_054546 p.Leu197Val Polymorphism rs7969931 - LRMP Q12912 VAR_054547 p.Leu241Trp Polymorphism rs1063159 - LRMP Q12912 VAR_054548 p.Cys253Ser Polymorphism rs1908946 - LRP10 Q7Z4F1 VAR_018172 p.Arg48Trp Polymorphism rs2273837 - LRP10 Q7Z4F1 VAR_034097 p.Met139Val Polymorphism rs28534929 - LRP11 Q86VZ4 VAR_025537 p.Pro92Arg Polymorphism rs9322225 - LRP11 Q86VZ4 VAR_025538 p.Arg351His Polymorphism rs17854254 - LRP11 Q86VZ4 VAR_056002 p.Thr281Met Polymorphism rs9478945 - LRP11 Q86VZ4 VAR_056003 p.Gly442Arg Polymorphism rs9478144 - LRP12 Q9Y561 VAR_049766 p.Ser694Gly Polymorphism rs16871494 - LRP1B Q9NZR2 VAR_018328 p.Arg3157Cys Unclassified - - LRP1B Q9NZR2 VAR_049759 p.Gln48Arg Polymorphism rs12990449 - LRP1B Q9NZR2 VAR_049760 p.Gln3140Arg Polymorphism rs34488772 - LRP1B Q9NZR2 VAR_049761 p.Glu3458Lys Polymorphism rs1878740 - LRP1B Q9NZR2 VAR_049762 p.Gln3734Lys Polymorphism rs35546150 - LRP1B Q9NZR2 VAR_049763 p.Val4264Leu Polymorphism rs17386226 - LRP1 Q07954 VAR_014725 p.Ala217Val Polymorphism rs1800127 - LRP1 Q07954 VAR_021885 p.Asn166Asp Polymorphism rs2306691 - LRP1 Q07954 VAR_029181 p.Val2059Leu Polymorphism rs2229278 - LRP1 Q07954 VAR_035994 p.Glu869Lys Unclassified - A colorectal cancer sample LRP1 Q07954 VAR_035995 p.Arg3760His Unclassified - A colorectal cancer sample LRP1 Q07954 VAR_047525 p.Asp2080Asn Polymorphism rs34577247 - LRP1 Q07954 VAR_047526 p.Gln2900Pro Polymorphism rs7397167 - LRP1 Q07954 VAR_047527 p.Glu4536Gly Polymorphism rs17357542 - LRP2 P98164 VAR_005421 p.Ala1287Pro Polymorphism - - LRP2 P98164 VAR_005422 p.Ala2872Thr Polymorphism rs2228171 - LRP2 P98164 VAR_005423 p.Lys4094Glu Polymorphism rs2075252 - LRP2 P98164 VAR_005424 p.Ile4210Leu Polymorphism rs4667591 - LRP2 P98164 VAR_020218 p.Ile2065Thr Polymorphism rs2228168 - LRP2 P98164 VAR_020219 p.Arg3305His Polymorphism rs3213760 - LRP2 P98164 VAR_029182 p.Asp1279Ala Polymorphism rs17848149 - LRP2 P98164 VAR_029183 p.Arg2012Lys Polymorphism rs4667596 - LRP2 P98164 VAR_029184 p.Asn2632Asp Polymorphism rs17848169 - LRP2 P98164 VAR_035996 p.Met4272Val Unclassified - A colorectal cancer sample LRP2 P98164 VAR_037009 p.Asn83Ser Polymorphism rs2229263 - LRP2 P98164 VAR_037010 p.Gly669Asp Polymorphism rs34291900 - LRP2 P98164 VAR_037011 p.His909Arg Polymorphism rs36082715 - LRP2 P98164 VAR_037012 p.His1083Gln Polymorphism rs2302691 - LRP2 P98164 VAR_037013 p.Tyr2522His Disease - Donnai-Barrow syndrome (DBS) [MIM:222448] LRP2 P98164 VAR_037014 p.Arg3011Met Polymorphism rs11674973 - LRP2 P98164 VAR_061294 p.Gly259Arg Polymorphism rs34693334 - LRP2 P98164 VAR_064727 p.Cys103Arg Unclassified - - LRP3 O75074 VAR_018171 p.Val708Ala Polymorphism rs3745974 - LRP3 O75074 VAR_049764 p.Pro213Leu Polymorphism rs3745978 - LRP4 O75096 VAR_057955 p.Ile1086Val Polymorphism rs6485702 - LRP4 O75096 VAR_057956 p.Ser1554Gly Polymorphism rs2306029 - LRP4 O75096 VAR_057957 p.Arg1646Gln Polymorphism rs3816614 - LRP4 O75096 VAR_058290 p.Leu314Ser Polymorphism rs7926667 - LRP4 O75096 VAR_058291 p.Ala1203Val Polymorphism rs2306033 - LRP4 O75096 VAR_058292 p.Ala1238Thr Polymorphism rs2306031 - LRP4 O75096 VAR_063776 p.Asp137Asn Disease - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063777 p.Cys160Tyr Disease - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063778 p.Asp449Asn Disease - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063779 p.Thr461Pro Disease - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063780 p.Leu473Phe Disease - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063781 p.Asp529Asn Disease - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP4 O75096 VAR_063782 p.Cys1017Arg Disease - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] LRP5L A4QPB2 VAR_033191 p.Thr61Met Polymorphism rs17616994 - LRP5 O75197 VAR_018465 p.Thr173Met Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_018466 p.Tyr1168His Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_018467 p.Cys1361Gly Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_021222 p.Arg570Gln Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_021223 p.Arg752Gly Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_021224 p.Glu1367Lys Disease rs28939709 Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_021225 p.Ala1525Val Polymorphism rs1127291 - LRP5 O75197 VAR_021806 p.Gln89Arg Polymorphism rs41494349 - LRP5 O75197 VAR_021807 p.Asp111Tyr Disease - Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634] LRP5 O75197 VAR_021808 p.Gly171Arg Disease - Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634] LRP5 O75197 VAR_021809 p.Gly171Val Disease - High bone mass trait (HBM) [MIM:601884] LRP5 O75197 VAR_021810 p.Ala214Thr Disease - Endosteal hyperostosis Worth type (WENHY) [MIM:144750] LRP5 O75197 VAR_021811 p.Ala214Val Disease - Endosteal hyperostosis Worth type (WENHY) [MIM:144750] LRP5 O75197 VAR_021812 p.Ala242Thr Disease - Endosteal hyperostosis Worth type (WENHY) [MIM:144750] LRP5 O75197 VAR_021812 p.Ala242Thr Disease - Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634] LRP5 O75197 VAR_021812 p.Ala242Thr Disease - Van Buchem disease type 2 (VBCH2) [MIM:607636] LRP5 O75197 VAR_021813 p.Thr253Ile Disease - Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634] LRP5 O75197 VAR_021814 p.Arg494Gln Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_021815 p.Arg570Trp Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_021816 p.Val667Met Polymorphism rs4988321 - LRP5 O75197 VAR_021817 p.Ala1330Val Polymorphism rs3736228 - LRP5 O75197 VAR_035208 p.Val1204Leu Polymorphism rs11607268 - LRP5 O75197 VAR_063412 p.Met282Val Disease - High bone mass trait (HBM) [MIM:601884] LRP5 O75197 VAR_063941 p.Ala29Thr Unclassified - - LRP5 O75197 VAR_063942 p.Ala97Val Polymorphism - - LRP5 O75197 VAR_063943 p.Leu145Phe Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063944 p.Arg154Met Disease - High bone mass trait (HBM) [MIM:601884] LRP5 O75197 VAR_063945 p.Asp203Asn Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063946 p.Thr244Met Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063947 p.Ser307Phe Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063948 p.Arg348Trp Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063949 p.Arg353Gln Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063950 p.Ser356Leu Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063951 p.Thr390Lys Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063952 p.Ala400Glu Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063953 p.Gly404Arg Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063954 p.Thr409Ala Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063955 p.Asp434Asn Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063956 p.Glu441Lys Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063957 p.Arg444Cys Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063958 p.Ser455Leu Unclassified - - LRP5 O75197 VAR_063959 p.Glu460Lys Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063960 p.Trp478Arg Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063961 p.Trp504Cys Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063962 p.Asp511Ala Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063963 p.Gly520Val Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063964 p.Ala522Thr Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063965 p.Asn531Ile Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063966 p.Thr535Met Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063967 p.Gly550Arg Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063968 p.Gly610Arg Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063968 p.Gly610Arg Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063969 p.Phe617Cys Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063970 p.Asp683Asn Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063971 p.Tyr733His Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063972 p.Thr798Ala Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063973 p.Arg805Trp Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063974 p.Arg1036Gln Unclassified - - LRP5 O75197 VAR_063975 p.Asp1099Tyr Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063976 p.Arg1113Cys Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063977 p.Asn1121Asp Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063978 p.Cys1253Phe Disease - Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] LRP5 O75197 VAR_063979 p.Gly1401Asp Disease - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] LRP5 O75197 VAR_063980 p.Ala1537Thr Unclassified - - LRP5 O75197 VAR_063981 p.Thr1540Met Polymorphism - - LRP6 O75581 VAR_024520 p.Val1062Ile Polymorphism rs2302685 - LRP6 O75581 VAR_030349 p.Val483Ile Polymorphism rs7975614 - LRP6 O75581 VAR_030350 p.Ser817Cys Polymorphism rs2302686 - LRP6 O75581 VAR_034701 p.Arg611Cys Disease - Coronary artery disease, autosomal dominant, type 2 (ADCAD2) [MIM:610947] LRP6 O75581 VAR_034702 p.Arg1401His Polymorphism rs34815107 - LRP8 Q14114 VAR_018468 p.Asp46Glu Polymorphism rs3820198 - LRP8 Q14114 VAR_018469 p.Arg952Gln Polymorphism rs5174 - LRP8 Q14114 VAR_037624 p.Val453Met Polymorphism rs5180 - LRP8 Q14114 VAR_037625 p.Trp466Cys Polymorphism rs5181 - LRP8 Q14114 VAR_037626 p.Gln607Arg Polymorphism rs5172 - LRP8 Q14114 VAR_037627 p.Ile611Leu Polymorphism rs5170 - LRP8 Q14114 VAR_037628 p.Ser653Thr Polymorphism rs5171 - LRP8 Q14114 VAR_046974 p.Gln25Arg Polymorphism rs4926972 - LRP8 Q14114 VAR_059079 p.Arg736Gln Polymorphism rs5172 - LRPAP1 P30533 VAR_011821 p.Val311Met Polymorphism rs1800493 - LRPAP1 P30533 VAR_050660 p.Asn114Ser Polymorphism rs2228158 - LRPPRC P42704 VAR_018656 p.Ala354Val Disease - Leigh syndrome French-Canadian type (LSFC) [MIM:220111] LRPPRC P42704 VAR_052935 p.Thr478Ala Polymorphism rs35035668 - LRR1 Q96L50 VAR_051095 p.Ile96Asn Polymorphism rs17121605 - LRR1 Q96L50 VAR_051096 p.Arg229Trp Polymorphism rs7148147 - LRRC14 Q15048 VAR_053603 p.Gly437Asp Polymorphism rs3735854 - LRRC15 Q8TF66 VAR_051101 p.Val264Ile Polymorphism rs13060627 - LRRC15 Q8TF66 VAR_051102 p.Pro286Leu Polymorphism rs13070515 - LRRC16A Q5VZK9 VAR_039923 p.Val77Ile Polymorphism rs9358856 - LRRC16A Q5VZK9 VAR_039924 p.Pro545Leu Polymorphism rs12207840 - LRRC16A Q5VZK9 VAR_039925 p.Ala639Gly Polymorphism rs7454756 - LRRC16A Q5VZK9 VAR_039926 p.Asn1117Ser Polymorphism rs9885914 - LRRC16B Q8ND23 VAR_039845 p.Leu1022Met Polymorphism rs10146906 - LRRC17 Q8N6Y2 VAR_051103 p.Thr95Ile Polymorphism rs34613342 - LRRC17 Q8N6Y2 VAR_051104 p.Lys119Glu Polymorphism rs3800939 - LRRC17 Q8N6Y2 VAR_051105 p.Gly187Ala Polymorphism rs1057066 - LRRC18 Q8N456 VAR_028161 p.Gly7Val Polymorphism rs7094610 - LRRC18 Q8N456 VAR_028162 p.Arg31His Polymorphism rs17772611 - LRRC1 Q9BTT6 VAR_019431 p.Ile193Val Polymorphism rs9349688 - LRRC23 Q53EV4 VAR_051106 p.Asn65His Polymorphism rs2071072 - LRRC23 Q53EV4 VAR_051107 p.Arg124Leu Polymorphism rs2071073 - LRRC23 Q53EV4 VAR_051108 p.Val317Glu Polymorphism rs1057077 - LRRC25 Q8N386 VAR_051109 p.Pro294Ser Polymorphism rs6512265 - LRRC25 Q8N386 VAR_061677 p.Pro234Thr Polymorphism rs34439430 - LRRC27 Q9C0I9 VAR_051110 p.Arg195Cys Polymorphism rs2474329 - LRRC28 Q86X40 VAR_034084 p.Arg168His Polymorphism rs11857384 - LRRC29 Q8WV35 VAR_049031 p.Arg75Gln Polymorphism rs3743728 - LRRC29 Q8WV35 VAR_049032 p.Gly117Ser Polymorphism rs34595673 - LRRC2 Q9BYS8 VAR_051140 p.Val32Ala Polymorphism rs28687398 - LRRC2 Q9BYS8 VAR_051141 p.Thr83Ala Polymorphism rs17286758 - LRRC2 Q9BYS8 VAR_051142 p.Ala145Glu Polymorphism rs17078944 - LRRC31 Q6UY01 VAR_034085 p.Leu322Phe Polymorphism rs35923425 - LRRC31 Q6UY01 VAR_051111 p.Ala324Glu Polymorphism rs3732452 - LRRC31 Q6UY01 VAR_051112 p.Leu378Phe Polymorphism rs35923425 - LRRC32 Q14392 VAR_051113 p.Leu223Val Polymorphism rs35033061 - LRRC32 Q14392 VAR_051114 p.Gly311Ala Polymorphism rs35130967 - LRRC34 Q8IZ02 VAR_034086 p.Leu241Ile Polymorphism rs10936600 - LRRC34 Q8IZ02 VAR_051115 p.Pro36Leu Polymorphism rs9820986 - LRRC34 Q8IZ02 VAR_051116 p.Met360Ile Polymorphism rs9872760 - LRRC36 Q1X8D7 VAR_047015 p.Arg222Pro Polymorphism rs9922085 - LRRC36 Q1X8D7 VAR_047016 p.Gly509Ser Polymorphism rs8052655 - LRRC36 Q1X8D7 VAR_047017 p.Ser744Gly Polymorphism rs16957415 - LRRC37A3 O60309 VAR_051088 p.Lys1215Glu Polymorphism rs9893710 - LRRC37A3 O60309 VAR_061672 p.Gly1590Ala Polymorphism rs28532307 - LRRC38 Q5VT99 VAR_037504 p.Leu276Phe Polymorphism rs2940315 - LRRC38 Q5VT99 VAR_037505 p.Lys292Glu Polymorphism rs3013105 - LRRC39 Q96DD0 VAR_034087 p.Ile121Leu Polymorphism rs34920283 - LRRC40 Q9H9A6 VAR_034088 p.Gln53Pro Polymorphism rs270495 - LRRC40 Q9H9A6 VAR_034089 p.Ile500Val Polymorphism rs3180401 - LRRC41 Q15345 VAR_051117 p.Val609Ile Polymorphism rs11542623 - LRRC43 Q8N309 VAR_037338 p.Gln256Lys Polymorphism rs11060094 - LRRC47 Q8N1G4 VAR_035471 p.Glu193Asp Unclassified - A colorectal cancer sample LRRC47 Q8N1G4 VAR_051118 p.Pro545Leu Polymorphism rs11547614 - LRRC47 Q8N1G4 VAR_051119 p.Val581Ile Polymorphism rs11547615 - LRRC48 Q9H069 VAR_025625 p.Arg191Trp Polymorphism rs4584886 - LRRC48 Q9H069 VAR_051120 p.Arg159Gln Polymorphism rs8072048 - LRRC48 Q9H069 VAR_051121 p.Ala364Val Polymorphism rs11656629 - LRRC4 Q9HBW1 VAR_035519 p.Thr579Ala Unclassified - A colorectal cancer sample LRRC52 Q8N7C0 VAR_051122 p.Asp209Glu Polymorphism rs17407838 - LRRC56 Q8IYG6 VAR_025782 p.Arg507Gly Polymorphism rs10902170 - LRRC56 Q8IYG6 VAR_025783 p.Asp523His Polymorphism rs10902171 - LRRC56 Q8IYG6 VAR_034090 p.Arg12Gln Polymorphism rs2277269 - LRRC56 Q8IYG6 VAR_059694 p.Arg300His Polymorphism rs4963198 - LRRC56 Q8IYG6 VAR_061678 p.Arg467Gln Polymorphism rs12793222 - LRRC61 Q9BV99 VAR_051123 p.Asn143Ser Polymorphism rs3735169 - LRRC63 Q05C16 VAR_039236 p.Met137Val Polymorphism rs7338697 - LRRC63 Q05C16 VAR_039237 p.Met206Val Polymorphism rs6561303 - LRRC63 Q05C16 VAR_039238 p.Lys281Arg Polymorphism rs12865423 - LRRC63 Q05C16 VAR_039239 p.Thr282Ala Polymorphism rs12865424 - LRRC66 Q68CR7 VAR_051124 p.Gly342Ala Polymorphism rs17081784 - LRRC69 Q6ZNQ3 VAR_043481 p.Thr64Ile Polymorphism rs11785003 - LRRC6 Q86X45 VAR_023603 p.Thr232Ile Polymorphism rs2293979 - LRRC6 Q86X45 VAR_031223 p.Ile466Thr Polymorphism rs9297853 - LRRC71 Q8N4P6 VAR_031773 p.Arg483His Polymorphism rs12119908 - LRRC71 Q8N4P6 VAR_031774 p.Ser503Ala Polymorphism rs822431 - LRRC71 Q8N4P6 VAR_059593 p.Ala533Thr Polymorphism rs11264585 - LRRC7 Q96NW7 VAR_035715 p.Leu235Met Unclassified - A breast cancer sample LRRC7 Q96NW7 VAR_049727 p.His1054Tyr Polymorphism rs12069888 - LRRC8B Q6P9F7 VAR_025275 p.Gln419Lys Polymorphism rs17855025 - LRRC8B Q6P9F7 VAR_051126 p.Asp288Asn Polymorphism rs17131746 - LRRC8B Q6P9F7 VAR_051127 p.Arg469His Polymorphism rs3795832 - LRRC8B Q6P9F7 VAR_051128 p.Asn689Ser Polymorphism rs12747447 - LRRC8C Q8TDW0 VAR_051129 p.Asp205Gly Polymorphism rs474536 - LRRC8C Q8TDW0 VAR_051130 p.Asn468Ser Polymorphism rs12032393 - LRRC8C Q8TDW0 VAR_051131 p.Met800Ile Polymorphism rs12036569 - LRRC8D Q7L1W4 VAR_051132 p.Ser371Tyr Polymorphism rs11552246 - LRRC8E Q6NSJ5 VAR_056930 p.Val433Ile Polymorphism rs36038711 - LRRC8E Q6NSJ5 VAR_059695 p.Glu181Gly Polymorphism rs2042919 - LRRC8E Q6NSJ5 VAR_059696 p.Met190Thr Polymorphism rs2115108 - LRRC8E Q6NSJ5 VAR_060437 p.Pro160Leu Polymorphism rs3745377 - LRRCC1 Q9C099 VAR_043584 p.His69Gln Polymorphism rs16913589 - LRRCC1 Q9C099 VAR_043585 p.Thr210Ala Polymorphism rs3736038 - LRRCC1 Q9C099 VAR_043586 p.Lys613Asn Polymorphism rs6985225 - LRRFIP1 Q32MZ4 VAR_027291 p.Gln275Arg Polymorphism rs3213869 - LRRFIP1 Q32MZ4 VAR_027292 p.Asn418Ser Polymorphism rs2001301 - LRRFIP1 Q32MZ4 VAR_027293 p.Glu609Lys Polymorphism rs3739041 - LRRFIP1 Q32MZ4 VAR_027294 p.Pro645Leu Polymorphism rs3739040 - LRRFIP1 Q32MZ4 VAR_027295 p.Arg779Gly Polymorphism rs3739039 - LRRFIP1 Q32MZ4 VAR_027296 p.His783Asp Polymorphism rs3739038 - LRRFIP1 Q32MZ4 VAR_036037 p.Ser68Cys Unclassified - A breast cancer sample LRRFIP1 Q32MZ4 VAR_056111 p.Lys633Glu Polymorphism rs3739041 - LRRFIP2 Q9Y608 VAR_050001 p.Lys143Glu Polymorphism rs34902788 - LRRIQ1 Q96JM4 VAR_037672 p.Ile29Asn Polymorphism rs7312075 - LRRIQ1 Q96JM4 VAR_037673 p.Cys83Tyr Polymorphism rs3765044 - LRRIQ1 Q96JM4 VAR_037674 p.Ala912Thr Polymorphism rs17012533 - LRRIQ3 A6PVS8 VAR_037154 p.Phe35Cys Polymorphism rs2274904 - LRRIQ3 A6PVS8 VAR_037155 p.Met129Ile Polymorphism rs17094900 - LRRIQ3 A6PVS8 VAR_037156 p.His156Tyr Polymorphism rs17591320 - LRRIQ3 A6PVS8 VAR_051136 p.Ala255Thr Polymorphism rs1340472 - LRRIQ3 A6PVS8 VAR_051137 p.Ile398Val Polymorphism rs17094779 - LRRIQ3 A6PVS8 VAR_051138 p.Glu434Lys Polymorphism rs17094777 - LRRIQ3 A6PVS8 VAR_051139 p.Leu483Phe Polymorphism rs17094774 - LRRIQ4 A6NIV6 VAR_042953 p.Lys159Glu Polymorphism rs16854411 - LRRK1 Q38SD2 VAR_040674 p.Ala1803Thr Polymorphism - - LRRK1 Q38SD2 VAR_040675 p.Leu1824Phe Polymorphism - - LRRK1 Q38SD2 VAR_040676 p.Ser1847Asn Polymorphism - - LRRK1 Q38SD2 VAR_040677 p.Asp1927Gly Polymorphism - - LRRK2 Q5S007 VAR_024931 p.Arg50His Polymorphism rs2256408 - LRRK2 Q5S007 VAR_024932 p.Leu119Pro Polymorphism rs33995463 - LRRK2 Q5S007 VAR_024933 p.Asn551Lys Polymorphism rs7308720 - LRRK2 Q5S007 VAR_024934 p.Ile723Val Polymorphism rs10878307 - LRRK2 Q5S007 VAR_024935 p.Arg793Met Unclassified rs35173587 - LRRK2 Q5S007 VAR_024936 p.Gln930Arg Unclassified - - LRRK2 Q5S007 VAR_024937 p.Asp944Tyr Polymorphism rs17519916 - LRRK2 Q5S007 VAR_024938 p.Arg1067Gln Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024939 p.Ser1096Cys Unclassified - - LRRK2 Q5S007 VAR_024940 p.Ile1122Val Disease rs34805604 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024941 p.Ser1228Thr Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024942 p.Pro1262Ala Polymorphism rs4640000 - LRRK2 Q5S007 VAR_024943 p.Ile1371Val Unclassified rs17466213 - LRRK2 Q5S007 VAR_024944 p.Arg1398His Polymorphism rs7133914 - LRRK2 Q5S007 VAR_024945 p.Arg1441Cys Unclassified - - LRRK2 Q5S007 VAR_024946 p.Arg1441Gly Disease rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024947 p.Arg1441His Disease rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024948 p.Arg1514Gln Disease rs35507033 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024949 p.Pro1542Ser Disease rs33958906 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024950 p.Val1598Glu Disease rs721710 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024951 p.Arg1628Pro Polymorphism rs33949390 - LRRK2 Q5S007 VAR_024952 p.Met1646Thr Polymorphism rs35303786 - LRRK2 Q5S007 VAR_024953 p.Ser1647Thr Polymorphism rs11564148 - LRRK2 Q5S007 VAR_024954 p.Tyr1699Cys Disease rs35801418 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024955 p.Met1869Thr Disease rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024956 p.Arg1941His Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024957 p.Ile2012Thr Disease rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024958 p.Gly2019Ser Disease rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024959 p.Ile2020Thr Disease rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024960 p.Asn2081Asp Polymorphism rs33995883 - LRRK2 Q5S007 VAR_024961 p.Pro2119Leu Polymorphism rs12423862 - LRRK2 Q5S007 VAR_024962 p.Asn2261Ile Polymorphism rs12581902 - LRRK2 Q5S007 VAR_024963 p.Thr2356Ile Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_024964 p.Gly2385Arg Polymorphism rs34778348 - LRRK2 Q5S007 VAR_024965 p.Met2397Thr Polymorphism rs3761863 - LRRK2 Q5S007 VAR_033903 p.Ala419Val Polymorphism rs34594498 - LRRK2 Q5S007 VAR_033904 p.Pro755Leu Polymorphism rs34410987 - LRRK2 Q5S007 VAR_040678 p.Arg1550Gln Unclassified - An ovarian mucinous carcinoma sample LRRK2 Q5S007 VAR_040679 p.Arg1723Pro Unclassified - An ovarian serous carcinoma sample LRRK2 Q5S007 VAR_047022 p.Asp1375Glu Polymorphism rs28365226 - LRRK2 Q5S007 VAR_054740 p.Cys228Ser Polymorphism rs56108242 - LRRK2 Q5S007 VAR_054741 p.Met712Val Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054742 p.Ala716Val Polymorphism - - LRRK2 Q5S007 VAR_054743 p.Lys871Glu Polymorphism - - LRRK2 Q5S007 VAR_054744 p.Arg1728His Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054745 p.Arg1728Leu Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054746 p.Leu1870Phe Polymorphism - - LRRK2 Q5S007 VAR_054747 p.Thr2141Met Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054748 p.Arg2143His Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_054749 p.Glu2395Lys Polymorphism - - LRRK2 Q5S007 VAR_054750 p.Leu2466His Disease - Parkinson disease type 8 (PARK8) [MIM:607060] LRRK2 Q5S007 VAR_064728 p.Lys1359Ile Unclassified - - LRRN1 Q6UXK5 VAR_049896 p.Leu395Val Polymorphism rs35362954 - LRRN1 Q6UXK5 VAR_049897 p.Thr702Pro Polymorphism rs34611357 - LRRN2 O75325 VAR_021921 p.Pro7Leu Polymorphism rs3789044 - LRRN2 O75325 VAR_021922 p.Leu518Val Polymorphism rs3747631 - LRRN2 O75325 VAR_049898 p.Ala19Thr Polymorphism rs36012907 - LRRN2 O75325 VAR_049899 p.Val659Ala Polymorphism rs34771052 - LRRN2 O75325 VAR_049900 p.Pro692Ser Polymorphism rs11588857 - LRRN3 Q9H3W5 VAR_049901 p.Asp24Gly Polymorphism rs9942557 - LRRN4 Q8WUT4 VAR_025548 p.Pro138Leu Polymorphism rs6107751 - LRRN4 Q8WUT4 VAR_051143 p.Thr141Ala Polymorphism rs1884643 - LRRTM1 Q86UE6 VAR_022681 p.Asn330Ser Polymorphism rs6733871 - LRSAM1 Q6UWE0 VAR_021051 p.Asn318Asp Polymorphism rs1539567 - LRTM1 Q9HBL6 VAR_051144 p.Glu43Lys Polymorphism rs3806633 - LRTM1 Q9HBL6 VAR_051145 p.Leu117Val Polymorphism rs35540470 - LRTM2 Q8N967 VAR_061679 p.Asp161Asn Polymorphism rs41276696 - LRTOMT Q8WZ04 VAR_047554 p.Leu16Pro Disease - Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] LRTOMT Q8WZ04 VAR_047555 p.Arg158His Disease - Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] LRTOMT Q8WZ04 VAR_047556 p.Arg208Gln Disease - Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] LRTOMT Q8WZ04 VAR_054955 p.Arg81Gln Disease - Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] LRTOMT Q8WZ04 VAR_054956 p.Trp105Arg Disease - Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] LRTOMT Q8WZ04 VAR_054957 p.Glu110Lys Disease - Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] LSG1 Q9H089 VAR_039826 p.Leu92Pro Polymorphism rs34423045 - LSG1 Q9H089 VAR_039827 p.Lys267Glu Polymorphism rs1675953 - LSM12 Q3MHD2 VAR_035166 p.Pro77Arg Polymorphism rs17854322 - LSM12 Q3MHD2 VAR_062209 p.Val173Leu Polymorphism rs59168537 - LSM14A Q8ND56 VAR_022884 p.Arg448Gln Polymorphism rs2274896 - LSM14A Q8ND56 VAR_057532 p.Arg238Gln Polymorphism rs36006556 - LSP1 P33241 VAR_011867 p.Ala100Thr Polymorphism rs621679 - LSP1 P33241 VAR_011868 p.Gln229Lys Polymorphism rs1803928 - LSP1 P33241 VAR_061680 p.Gln108Leu Polymorphism rs11545725 - LSR Q86X29 VAR_049902 p.Ser363Asn Polymorphism rs34259399 - LSS P48449 VAR_021522 p.Leu642Val Polymorphism rs2254524 - LSS P48449 VAR_024648 p.Arg175Gln Polymorphism rs2839158 - LSS P48449 VAR_052057 p.His310Arg Polymorphism rs34115287 - LSS P48449 VAR_052058 p.Arg614Trp Polymorphism rs35785446 - LSS P48449 VAR_052059 p.Pro688Leu Polymorphism rs17293705 - LTA4H P09960 VAR_051570 p.Tyr131His Polymorphism rs45630737 - LTA P01374 VAR_007511 p.Thr60Asn Polymorphism rs1041981 - LTA P01374 VAR_007512 p.Thr125Pro Polymorphism - - LTA P01374 VAR_013023 p.Cys13Arg Polymorphism rs2229094 - LTA P01374 VAR_013024 p.His51Pro Polymorphism rs2229092 - LTB4R Q15722 VAR_060679 p.Leu346Phe Polymorphism rs17849864 - LTBP2 Q14767 VAR_055752 p.Pro319Gln Polymorphism rs2304707 - LTBP2 Q14767 VAR_059270 p.Arg37Met Polymorphism rs934996 - LTBP2 Q14767 VAR_060337 p.Pro591Ser Polymorphism rs2196862 - LTBP4 Q8N2S1 VAR_037119 p.Val194Ile Polymorphism rs2303729 - LTBP4 Q8N2S1 VAR_037120 p.Arg635Gly Polymorphism rs33937741 - LTBP4 Q8N2S1 VAR_037121 p.Pro679Ala Polymorphism rs34299942 - LTBP4 Q8N2S1 VAR_037122 p.Thr787Ala Polymorphism rs1131620 - LTBP4 Q8N2S1 VAR_037123 p.Thr820Ala Polymorphism rs1051303 - LTBP4 Q8N2S1 VAR_037124 p.Thr1141Met Polymorphism rs10880 - LTBP4 Q8N2S1 VAR_064153 p.Cys311Gly Disease - Urban-Rifkin-Davis syndrome (URDS) [MIM:613177] LTB Q06643 VAR_013025 p.Gly70Glu Polymorphism rs3093554 - LTB Q06643 VAR_013026 p.Ala111Pro Polymorphism rs3093555 - LTB Q06643 VAR_016331 p.Ser84Arg Polymorphism rs4647186 - LTB Q06643 VAR_016332 p.Leu87Phe Polymorphism rs4647187 - LTB Q06643 VAR_029145 p.Ala122Asp Polymorphism rs2229699 - LTBR P36941 VAR_052346 p.Val274Ile Polymorphism rs35681405 - LTC4S Q16873 VAR_042736 p.Arg142Gln Polymorphism rs11541078 - LTF P02788 VAR_013504 p.Ala29Thr Polymorphism rs1126477 - LTF P02788 VAR_013505 p.Lys47Arg Polymorphism rs1126478 - LTF P02788 VAR_013506 p.Ile148Thr Polymorphism rs1126479 - LTF P02788 VAR_013507 p.Gly422Cys Polymorphism rs1042055 - LTF P02788 VAR_013508 p.Glu579Asp Polymorphism rs2073495 - LTK P29376 VAR_031569 p.Arg42Gln Polymorphism rs2305030 - LTK P29376 VAR_046106 p.Cys384Arg Polymorphism rs55683312 - LTK P29376 VAR_046107 p.Asp535Asn Polymorphism rs35932273 - LTK P29376 VAR_046108 p.Arg569Ser Polymorphism - - LTK P29376 VAR_046109 p.Arg673Gln Polymorphism rs55876255 - LTK P29376 VAR_046110 p.Pro745Ser Polymorphism rs55900837 - LTK P29376 VAR_046111 p.Pro838Ser Polymorphism rs56367146 - LTK P29376 VAR_065465 p.Glu763Lys Polymorphism rs76282169 - LTN1 O94822 VAR_020957 p.Leu403Ser Polymorphism rs2254796 - LTN1 O94822 VAR_057218 p.Ala500Val Polymorphism rs16983580 - LTN1 O94822 VAR_057219 p.Gly565Cys Polymorphism rs34191159 - LTN1 O94822 VAR_057220 p.Val761Ile Polymorphism rs34635840 - LUC7L2 Q9Y383 VAR_034067 p.Asp361Glu Polymorphism rs3757435 - LUM P51884 VAR_065763 p.Leu199Pro Unclassified - - LURAP1L Q8IV03 VAR_028155 p.Ser62Gly Polymorphism rs3750501 - LUZP1 Q86V48 VAR_026283 p.Gly458Ser Polymorphism rs477830 - LUZP1 Q86V48 VAR_026284 p.Gln461Lys Polymorphism rs3765407 - LUZP1 Q86V48 VAR_026285 p.Asp868Asn Polymorphism rs10799790 - LUZP1 Q86V48 VAR_056932 p.Ser317Ala Polymorphism rs12091554 - LUZP1 Q86V48 VAR_056933 p.Thr491Ile Polymorphism rs35917050 - LUZP1 Q86V48 VAR_056934 p.Ser1034Asn Polymorphism rs12066671 - LUZP2 Q86TE4 VAR_038165 p.Glu308Gln Polymorphism rs7930185 - LUZP4 Q9P127 VAR_051146 p.Pro14Ser Polymorphism rs10482480 - LUZP4 Q9P127 VAR_051147 p.Thr306Ala Polymorphism rs35314601 - LXN Q9BS40 VAR_019117 p.His53Arg Polymorphism rs8455 - LXN Q9BS40 VAR_062139 p.Thr134Met Polymorphism rs59718588 - LY6D Q14210 VAR_038712 p.Ala10Thr Polymorphism rs2572925 - LY6G5B Q8NDX9 VAR_038842 p.Asp102Asn Polymorphism rs805267 - LY6G5B Q8NDX9 VAR_038843 p.Ser131Tyr Polymorphism rs11758242 - LY6G5B Q8NDX9 VAR_038844 p.Arg176Cys Polymorphism rs9267532 - LY6G6C O95867 VAR_039541 p.Leu63Met Polymorphism rs13214568 - LY6G6D O95868 VAR_039564 p.Leu9Val Polymorphism rs3749952 - LY6G6D O95868 VAR_039565 p.Ser34Thr Polymorphism rs9267550 - LY6G6F Q5SQ64 VAR_038908 p.Pro34Gln Polymorphism rs17200983 - LY6G6F Q5SQ64 VAR_038909 p.Pro39Ser Polymorphism rs805295 - LY6G6F Q5SQ64 VAR_038910 p.Ala107Thr Polymorphism rs9267547 - LY6G6F Q5SQ64 VAR_038911 p.Arg167Lys Polymorphism rs2242653 - LY75 O60449 VAR_024522 p.Asp692Asn Polymorphism rs1397706 - LY75 O60449 VAR_027824 p.Glu268Asp Polymorphism rs2271381 - LY75 O60449 VAR_027825 p.Lys486Met Polymorphism rs2729709 - LY75 O60449 VAR_027826 p.Asp807Glu Polymorphism rs3951216 - LY75 O60449 VAR_027827 p.Asp884Ala Polymorphism rs3815875 - LY75 O60449 VAR_027828 p.Thr1202Ser Polymorphism rs2303549 - LY75 O60449 VAR_027829 p.Lys1321Asn Polymorphism rs12692566 - LY75 O60449 VAR_027830 p.Lys1347Arg Polymorphism rs17827158 - LY75 O60449 VAR_027831 p.Tyr1391His Polymorphism rs2059696 - LY75 O60449 VAR_056156 p.Trp20Arg Polymorphism rs35284483 - LY75 O60449 VAR_056157 p.Val666Ala Polymorphism rs34020639 - LY75 O60449 VAR_056158 p.Thr1393Ile Polymorphism rs35941588 - LY86 O95711 VAR_014539 p.Met160Val Polymorphism rs1802323 - LY86 O95711 VAR_024531 p.Ser93Pro Polymorphism rs5743649 - LY86 O95711 VAR_050029 p.Tyr121Cys Polymorphism rs5743651 - LY96 Q9Y6Y9 VAR_024532 p.Pro157Ser Polymorphism rs11466004 - LY96 Q9Y6Y9 VAR_050030 p.Arg56Gly Polymorphism rs6472812 - LY9 Q9HBG7 VAR_033612 p.Met602Val Polymorphism rs509749 - LYAR Q9NX58 VAR_023080 p.Asp151Tyr Polymorphism rs2272739 - LYAR Q9NX58 VAR_023081 p.His265Arg Polymorphism rs7376390 - LYN P07948 VAR_041737 p.Asp385Tyr Unclassified - A breast pleomorphic lobular carcinoma sample LYPD2 Q6UXB3 VAR_052701 p.Arg5Gln Polymorphism rs11778314 - LYPD2 Q6UXB3 VAR_052702 p.Ala7Val Polymorphism rs11775636 - LYPD4 Q6UWN0 VAR_052703 p.Thr184Ser Polymorphism rs35476281 - LYPD5 Q6UWN5 VAR_052704 p.Pro47Ala Polymorphism rs11547806 - LYPD5 Q6UWN5 VAR_059885 p.Ala90Pro Polymorphism rs11547806 - LYPD5 Q6UWN5 VAR_059886 p.Asn167Ser Polymorphism rs349053 - LYPLA1 O75608 VAR_060991 p.Pro153Ser Polymorphism rs11549448 - LYPLAL1 Q5VWZ2 VAR_025607 p.Ile131Met Polymorphism rs940570 - LYPLAL1 Q5VWZ2 VAR_060992 p.Leu197Val Polymorphism rs34201999 - LYRM2 Q9NU23 VAR_034099 p.Lys46Glu Polymorphism rs34012596 - LYRM2 Q9NU23 VAR_050417 p.Arg34Trp Polymorphism rs11553069 - LYRM2 Q9NU23 VAR_050418 p.Thr60Pro Polymorphism rs1055889 - LYRM4 Q9HD34 VAR_024551 p.Ser11Ala Polymorphism rs2224391 - LYSMD2 Q8IV50 VAR_027198 p.Ile107Val Polymorphism rs3751593 - LYSMD2 Q8IV50 VAR_027199 p.Ser164Phe Polymorphism rs7168775 - LYSMD4 Q5XG99 VAR_027200 p.Ala157Val Polymorphism rs8041089 - LYSMD4 Q5XG99 VAR_027201 p.Ala161Val Polymorphism rs8041078 - LYSMD4 Q5XG99 VAR_027202 p.Ala180Gly Polymorphism rs2061007 - LYST Q99698 VAR_013556 p.Arg1563His Disease - Chediak-Higashi syndrome (CHS) [MIM:214500] LYST Q99698 VAR_013557 p.Val1999Asp Disease rs28942077 Chediak-Higashi syndrome (CHS) [MIM:214500] LYST Q99698 VAR_022029 p.His123Arg Polymorphism rs3768067 - LYST Q99698 VAR_024699 p.Leu192Val Polymorphism rs7524261 - LYST Q99698 VAR_053404 p.Glu702Gly Polymorphism rs1063129 - LYST Q99698 VAR_053405 p.Ser1017Asn Polymorphism rs10465613 - LYST Q99698 VAR_053406 p.Gln1949His Polymorphism rs6665568 - LYST Q99698 VAR_053407 p.Phe2598Tyr Polymorphism rs34642241 - LYST Q99698 VAR_053408 p.Gly2804Asp Polymorphism rs35333195 - LYST Q99698 VAR_053409 p.Val2936Ile Polymorphism rs2753327 - LYST Q99698 VAR_060040 p.Thr2116Met Polymorphism rs7541041 - LYVE1 Q9Y5Y7 VAR_027763 p.Trp116Arg Polymorphism rs17852369 - LYVE1 Q9Y5Y7 VAR_027764 p.Thr214Ile Polymorphism rs16907980 - LYVE1 Q9Y5Y7 VAR_027765 p.Val315Met Polymorphism rs7948666 - LYZL1 Q6UWQ5 VAR_026817 p.Gln62Pro Polymorphism rs3818551 - LYZL2 Q7Z4W2 VAR_026818 p.Asp144Gly Polymorphism rs1054570 - LYZL6 O75951 VAR_026819 p.Phe139Ser Polymorphism rs9754 - LYZ P61626 VAR_004280 p.Ile74Thr Disease - Amyloidosis type 8 (AMYL8) [MIM:105200] LYZ P61626 VAR_004281 p.Asp85His Disease - Amyloidosis type 8 (AMYL8) [MIM:105200] LYZ P61626 VAR_012050 p.Thr88Asn Polymorphism rs1800973 - LZIC Q8WZA0 VAR_053371 p.Gly104Asp Polymorphism rs2304778 - LZTFL1 Q9NQ48 VAR_038877 p.Lys152Glu Polymorphism rs17855512 - LZTFL1 Q9NQ48 VAR_038878 p.Asp246Asn Polymorphism rs1129183 - LZTFL1 Q9NQ48 VAR_038879 p.Gln251Arg Polymorphism rs17852322 - LZTS1 Q9Y250 VAR_018274 p.Ser29Pro Polymorphism rs28937897 - LZTS1 Q9Y250 VAR_018275 p.Lys119Glu Unclassified - - LZTS1 Q9Y250 VAR_018276 p.Leu475Val Polymorphism rs723874 - LZTS1 Q9Y250 VAR_053490 p.Ser50Phe Polymorphism rs34620053 - LZTS2 Q9BRK4 VAR_018277 p.Arg299Trp Polymorphism rs2275381 - LZTS2 Q9BRK4 VAR_036364 p.Arg121His Unclassified - A colorectal cancer sample LZTS2 Q9BRK4 VAR_036365 p.Gly291Arg Unclassified - A breast cancer sample M1AP Q8TC57 VAR_046335 p.Arg5Gln Polymorphism rs3025980 - M1AP Q8TC57 VAR_046336 p.Thr195Pro Polymorphism rs7602159 - MAATS1 Q7Z4T9 VAR_030243 p.Ala207Pro Polymorphism rs6438544 - MAATS1 Q7Z4T9 VAR_030244 p.Ser253Thr Polymorphism rs9817771 - MAATS1 Q7Z4T9 VAR_030245 p.Ser320Cys Polymorphism rs9819218 - MAB21L1 Q13394 VAR_037568 p.Ser70Pro Polymorphism rs1065316 - MACC1 Q6ZN28 VAR_042620 p.Leu31Val Polymorphism rs4721888 - MACC1 Q6ZN28 VAR_042621 p.Pro50Leu Polymorphism rs17142503 - MACC1 Q6ZN28 VAR_042622 p.Ser515Leu Polymorphism rs975263 - MACC1 Q6ZN28 VAR_042623 p.Glu728Ala Polymorphism rs12671170 - MACC1 Q6ZN28 VAR_042624 p.Arg804Thr Polymorphism rs3735615 - MACF1 Q9UPN3 VAR_035451 p.Glu302Val Unclassified - A breast cancer sample MACF1 Q9UPN3 VAR_035452 p.Glu6462Gln Unclassified - A breast cancer sample MACF1 Q9UPN3 VAR_048625 p.Met4357Val Polymorphism rs2296172 - MACF1 Q9UPN3 VAR_048626 p.Lys6201Arg Polymorphism rs682351 - MACF1 Q9UPN3 VAR_048627 p.Ala6308Thr Polymorphism rs587404 - MACF1 Q9UPN3 VAR_048628 p.Ser6628Thr Polymorphism rs668556 - MACF1 Q9UPN3 VAR_048629 p.Thr6752Ile Polymorphism rs2296174 - MACF1 Q9UPN3 VAR_048630 p.Ile6855Val Polymorphism rs12068423 - MACF1 Q9UPN3 VAR_065256 p.Gly7093Glu Unclassified - A breast cancer sample MACROD2 A1Z1Q3 VAR_056935 p.Thr58Ile Polymorphism rs2990505 - MACROD2 A1Z1Q3 VAR_061681 p.Thr335Met Polymorphism rs41275442 - MAD1L1 Q9Y6D9 VAR_019707 p.Ser29Leu Unclassified - A lymphoid cancer cell line MAD1L1 Q9Y6D9 VAR_019708 p.Arg59Cys Unclassified rs28939694 A prostate cancer cell line MAD1L1 Q9Y6D9 VAR_019709 p.Asn160Ser Polymorphism - - MAD1L1 Q9Y6D9 VAR_019710 p.Thr299Ala Unclassified - Lung cancer cell line MAD1L1 Q9Y6D9 VAR_019711 p.Arg360Gln Unclassified - A prostate cancer cell line MAD1L1 Q9Y6D9 VAR_019712 p.Thr500Met Polymorphism - - MAD1L1 Q9Y6D9 VAR_019713 p.Glu511Lys Polymorphism - - MAD1L1 Q9Y6D9 VAR_019714 p.Glu516Lys Unclassified - A breast cancer cell line MAD1L1 Q9Y6D9 VAR_019715 p.Arg556Cys Unclassified - A prostate cancer cell line MAD1L1 Q9Y6D9 VAR_019716 p.Arg556His Unclassified - One individual with lung cancer MAD1L1 Q9Y6D9 VAR_019717 p.Arg558His Unclassified rs1801368 A cancer cell line MAD1L1 Q9Y6D9 VAR_019718 p.Glu569Lys Unclassified - A breast cancer cell line MAD1L1 Q9Y6D9 VAR_019719 p.Arg572His Unclassified rs1801500 A cancer cell line MADCAM1 Q13477 VAR_017580 p.Pro300His Polymorphism rs3745925 - MADD Q8WXG6 VAR_030666 p.Pro696Thr Polymorphism rs17854007 - MADD Q8WXG6 VAR_030667 p.Val751Met Polymorphism rs1051006 - MADD Q8WXG6 VAR_030668 p.Arg968Gly Polymorphism rs17854008 - MADD Q8WXG6 VAR_030669 p.Leu1040Phe Polymorphism rs17854009 - MADD Q8WXG6 VAR_051148 p.Arg765Gln Polymorphism rs3736101 - MADD Q8WXG6 VAR_051149 p.Leu1518Pro Polymorphism rs34534575 - MAEA Q7L5Y9 VAR_051150 p.Arg34Cys Polymorphism rs34082974 - MAEL Q96JY0 VAR_034103 p.Ser41Ala Polymorphism rs11578336 - MAF1 Q9H063 VAR_060408 p.Gly236Arg Polymorphism rs11546144 - MAF O75444 VAR_029369 p.Arg288Pro Disease - Cataract pulverulent juvenile-onset MAF-related (CAPJOM) [MIM:610202] MAF O75444 VAR_029370 p.Lys297Arg Disease - Cataract congenital cerulean type 4 (CCA4) [MIM:610202] MAGEA10 P43363 VAR_024528 p.Arg166Lys Polymorphism rs210585 - MAGEA10 P43363 VAR_053496 p.Val234Ile Polymorphism rs210586 - MAGEA11 P43364 VAR_053497 p.Ser191Arg Polymorphism rs2233049 - MAGEA12 P43365 VAR_053498 p.Glu57Asp Polymorphism rs16996512 - MAGEA1 P43355 VAR_004283 p.Thr32Ala Polymorphism rs2008160 - MAGEA1 P43355 VAR_011737 p.Arg72Gln Polymorphism rs2008144 - MAGEA1 P43355 VAR_036581 p.Lys278Thr Unclassified - A breast cancer sample MAGEA1 P43355 VAR_053491 p.Ala63Thr Polymorphism rs2233044 - MAGEA4 P43358 VAR_004284 p.Ala173Thr Polymorphism rs1047251 - MAGEA4 P43358 VAR_036582 p.Gly153Asp Unclassified - A breast cancer sample MAGEA5 P43359 VAR_053492 p.Gln29His Polymorphism rs188387 - MAGEA6 P43360 VAR_053493 p.Ser152Ile Polymorphism rs7056365 - MAGEA8 P43361 VAR_053494 p.Arg121His Polymorphism rs35744768 - MAGEA8 P43361 VAR_053495 p.Ser306Phe Polymorphism rs12010332 - MAGEA9 P43362 VAR_064160 p.Pro31His Polymorphism - - MAGEB10 Q96LZ2 VAR_026773 p.Arg65Gln Polymorphism rs12557898 - MAGEB10 Q96LZ2 VAR_054500 p.Phe50Ser Polymorphism rs1368769 - MAGEB16 A2A368 VAR_037350 p.Leu38Phe Polymorphism rs1410961 - MAGEB16 A2A368 VAR_037351 p.Cys128Tyr Polymorphism rs1410962 - MAGEB16 A2A368 VAR_037352 p.His161Arg Polymorphism rs5973488 - MAGEB16 A2A368 VAR_037353 p.Met248Val Polymorphism rs4829390 - MAGEB16 A2A368 VAR_037354 p.Met248Lys Polymorphism rs4829391 - MAGEB18 Q96M61 VAR_053500 p.Pro40Ser Polymorphism rs5944317 - MAGEB1 P43366 VAR_053499 p.Arg267Cys Polymorphism rs7062640 - MAGEB2 O15479 VAR_027675 p.Glu61Lys Polymorphism rs2529541 - MAGEB2 O15479 VAR_027676 p.Gly318Arg Polymorphism rs5972090 - MAGEB3 O15480 VAR_021360 p.Arg107His Polymorphism rs2071308 - MAGEB3 O15480 VAR_021361 p.Ile112Thr Polymorphism rs2071309 - MAGEC1 O60732 VAR_053501 p.Cys25Tyr Polymorphism rs176036 - MAGEC1 O60732 VAR_053502 p.Thr151Ile Polymorphism rs176037 - MAGEC1 O60732 VAR_053503 p.Gln257His Polymorphism rs176047 - MAGEC1 O60732 VAR_053504 p.Phe276Ser Polymorphism rs1055491 - MAGEC1 O60732 VAR_060068 p.His327Gln Polymorphism rs176047 - MAGEC1 O60732 VAR_062121 p.His709Tyr Polymorphism rs56256227 - MAGEC2 Q9UBF1 VAR_036583 p.Gly6Cys Unclassified - A breast cancer sample MAGEC3 Q8TD91 VAR_053505 p.Leu165Met Polymorphism rs11095910 - MAGEC3 Q8TD91 VAR_053506 p.Ala307Thr Polymorphism rs176024 - MAGEC3 Q8TD91 VAR_053507 p.Ala328Thr Polymorphism rs176026 - MAGEC3 Q8TD91 VAR_060069 p.Ser155Pro Polymorphism rs11095909 - MAGED1 Q9Y5V3 VAR_060070 p.Leu238Met Polymorphism rs12689461 - MAGED2 Q9UNF1 VAR_011639 p.Gln266Arg Polymorphism - - MAGED2 Q9UNF1 VAR_036584 p.Lys458Gln Unclassified - A breast cancer sample MAGED2 Q9UNF1 VAR_053508 p.Glu187Asp Polymorphism rs12014977 - MAGEE1 Q9HCI5 VAR_036585 p.Tyr640Phe Unclassified - A breast cancer sample MAGEE1 Q9HCI5 VAR_036586 p.Thr664Asn Unclassified - A breast cancer sample MAGEE1 Q9HCI5 VAR_060071 p.Glu339Asp Polymorphism rs7051260 - MAGEE2 Q8TD90 VAR_053509 p.Gly291Cys Polymorphism rs12688600 - MAGEF1 Q9HAY2 VAR_057651 p.Lys93Arg Polymorphism rs34540780 - MAGIX Q9H6Y5 VAR_037075 p.Arg53His Polymorphism rs5906744 - MAGIX Q9H6Y5 VAR_047035 p.His112Arg Polymorphism rs5906744 - MAGIX Q9H6Y5 VAR_047036 p.Val173Leu Polymorphism rs5905720 - MAGIX Q9H6Y5 VAR_047037 p.Phe323Leu Polymorphism rs4824462 - MAGOHB Q96A72 VAR_036431 p.Glu119Lys Unclassified - A breast cancer sample MAG P20916 VAR_059399 p.Leu202Met Polymorphism rs11084810 - MAGT1 Q9H0U3 VAR_045837 p.Val311Gly Disease - Mental retardation X-linked type 95 (MRX95) [MIM:300716] MAK16 Q9BXY0 VAR_023076 p.Gln277Arg Polymorphism rs6468171 - MAK P20794 VAR_042006 p.Ile189Val Polymorphism rs56215624 - MAK P20794 VAR_042007 p.Arg272Pro Unclassified - A breast infiltrating ductal carcinoma sample MAK P20794 VAR_042008 p.Asn384Ser Polymorphism rs55773478 - MAK P20794 VAR_042009 p.Pro520Ser Polymorphism rs567083 - MAK P20794 VAR_042010 p.Phe550Leu Polymorphism rs56217305 - MAK P20794 VAR_053932 p.Asp329Glu Polymorphism rs17579447 - MAL2 Q969L2 VAR_050016 p.Ala92Thr Polymorphism rs2303398 - MALT1 Q9UDY8 VAR_048620 p.Ile641Val Polymorphism rs35533328 - MAMDC2 Q7Z304 VAR_028080 p.Ser294Asn Polymorphism rs1998972 - MAMDC2 Q7Z304 VAR_061318 p.Val646Ala Polymorphism rs35534839 - MAMDC4 Q6UXC1 VAR_032128 p.Trp987Gly Polymorphism rs2275156 - MAMDC4 Q6UXC1 VAR_035778 p.Pro244Thr Unclassified - A breast cancer sample MAMDC4 Q6UXC1 VAR_035779 p.Arg1174Trp Unclassified - A breast cancer sample MAML1 Q92585 VAR_029010 p.Ser1007Asn Polymorphism rs6895902 - MAML1 Q92585 VAR_061335 p.Ser583Asn Polymorphism rs41285557 - MAML2 Q8IZL2 VAR_063127 p.Pro896Thr Polymorphism rs7123133 - MAMLD1 Q13495 VAR_020273 p.Asn662Ser Polymorphism rs2073043 - MAMLD1 Q13495 VAR_030024 p.Pro359Ser Polymorphism rs41313406 - MAMLD1 Q13495 VAR_030025 p.Gln580Arg Polymorphism - - MAN1A1 P33908 VAR_034102 p.Arg651Gly Polymorphism rs35544784 - MAN1B1 Q9UKM7 VAR_055841 p.Asn59Ser Polymorphism rs968733 - MAN2A2 P49641 VAR_047912 p.Gln412Arg Polymorphism rs2106673 - MAN2A2 P49641 VAR_047913 p.Ser665Phe Polymorphism rs1266494 - MAN2B1 O00754 VAR_003338 p.His72Leu Disease - Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003339 p.Leu278Val Polymorphism rs1054486 - MAN2B1 O00754 VAR_003340 p.Thr312Ile Polymorphism rs1054487 - MAN2B1 O00754 VAR_003341 p.Arg337Gln Polymorphism rs1133330 - MAN2B1 O00754 VAR_003342 p.Thr355Pro Disease - Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003343 p.Pro356Arg Disease - Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003344 p.Glu402Lys Unclassified - - MAN2B1 O00754 VAR_003345 p.Asn413Ser Polymorphism rs35836657 - MAN2B1 O00754 VAR_003346 p.Trp714Arg Disease - Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003347 p.Arg750Trp Disease - Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_003348 p.Leu809Pro Disease - Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_026412 p.His200Leu Disease - Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_026413 p.Ser453Tyr Disease - Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_026414 p.Gly801Asp Disease - Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] MAN2B1 O00754 VAR_049209 p.Ala250Ser Polymorphism rs3745650 - MAN2B1 O00754 VAR_049210 p.Ala481Ser Polymorphism rs34544747 - MAN2B2 Q9Y2E5 VAR_025328 p.Gln243Pro Polymorphism rs2301796 - MAN2B2 Q9Y2E5 VAR_025329 p.Val320Met Polymorphism rs2301795 - MAN2B2 Q9Y2E5 VAR_025330 p.Met446Val Polymorphism rs2301790 - MAN2B2 Q9Y2E5 VAR_025331 p.Asn541Ser Polymorphism rs2301788 - MAN2B2 Q9Y2E5 VAR_055840 p.Arg365Cys Polymorphism rs6858328 - MAN2C1 Q9NTJ4 VAR_021914 p.Val960Ile Polymorphism rs3803466 - MAN2C1 Q9NTJ4 VAR_049211 p.Val950Met Polymorphism rs3803467 - MAN2C1 Q9NTJ4 VAR_049212 p.Arg975Lys Polymorphism rs5745934 - MAN2C1 Q9NTJ4 VAR_061192 p.Arg818His Polymorphism rs58557444 - MANBA O00462 VAR_026232 p.Val253Ile Polymorphism rs227368 - MANBA O00462 VAR_026233 p.Thr701Met Polymorphism rs2866413 - MANBA O00462 VAR_059311 p.Val253Leu Polymorphism rs227368 - MANEA Q5SRI9 VAR_036242 p.Tyr331Cys Unclassified - A breast cancer sample MANSC1 Q9H8J5 VAR_021840 p.Val55Ile Polymorphism rs3741798 - MANSC1 Q9H8J5 VAR_021841 p.Asn375Tyr Polymorphism rs3741803 - MANSC1 Q9H8J5 VAR_051151 p.Asp165Asn Polymorphism rs17375215 - MANSC1 Q9H8J5 VAR_061682 p.Leu141Val Polymorphism rs34668262 - MAOA P21397 VAR_014795 p.Phe314Val Polymorphism rs1799835 - MAOA P21397 VAR_014796 p.Lys520Arg Polymorphism rs1800466 - MAOA P21397 VAR_036545 p.Asp15Glu Unclassified - A breast cancer sample MAOA P21397 VAR_064573 p.Glu188Lys Polymorphism rs77698881 - MAP1A P78559 VAR_039705 p.Phe72Leu Polymorphism rs2584695 - MAP1A P78559 VAR_039706 p.Ala335Ser Polymorphism rs1060935 - MAP1A P78559 VAR_039707 p.Lys336Thr Polymorphism rs1060936 - MAP1A P78559 VAR_039708 p.Ala353Ser Polymorphism rs1060937 - MAP1A P78559 VAR_039709 p.Ala357Ser Polymorphism rs1060938 - MAP1A P78559 VAR_039710 p.Lys364Gln Polymorphism rs2602129 - MAP1A P78559 VAR_039711 p.Lys485Gln Polymorphism rs2584715 - MAP1A P78559 VAR_039712 p.Thr830Ala Polymorphism rs3803337 - MAP1A P78559 VAR_039713 p.Asn1078Ser Polymorphism rs8034794 - MAP1A P78559 VAR_039714 p.Ile1102Thr Polymorphism rs8036179 - MAP1A P78559 VAR_039715 p.Arg1185His Polymorphism rs3803335 - MAP1A P78559 VAR_039716 p.Asp1245Asn Polymorphism rs12912505 - MAP1A P78559 VAR_039717 p.Asp1461Asn Polymorphism rs2245715 - MAP1A P78559 VAR_039718 p.Gln1553His Polymorphism rs2584717 - MAP1A P78559 VAR_039719 p.Lys1605Asn Polymorphism rs2584697 - MAP1A P78559 VAR_039720 p.Trp1650Cys Polymorphism rs1060943 - MAP1A P78559 VAR_039721 p.Ala1690Ser Polymorphism rs1060946 - MAP1A P78559 VAR_039722 p.Pro1827Ala Polymorphism rs2229014 - MAP1A P78559 VAR_039723 p.Ala1881Pro Polymorphism rs1060950 - MAP1A P78559 VAR_039724 p.Ala1912Val Polymorphism rs2584718 - MAP1A P78559 VAR_039725 p.Ser1938Arg Polymorphism rs2584719 - MAP1A P78559 VAR_039726 p.Ser2056Arg Polymorphism rs1060953 - MAP1A P78559 VAR_039727 p.His2214Tyr Polymorphism rs1060955 - MAP1A P78559 VAR_039728 p.Asp2327Val Polymorphism rs8026745 - MAP1A P78559 VAR_056122 p.Ile2461Thr Polymorphism rs8028849 - MAP1A P78559 VAR_059432 p.Thr2405Ile Polymorphism rs8027254 - MAP1A P78559 VAR_059433 p.Asp2465Asn Polymorphism rs8027916 - MAP1B P46821 VAR_024530 p.Ile594Val Polymorphism rs1866374 - MAP1B P46821 VAR_030347 p.Glu869Gly Polymorphism rs16876070 - MAP1B P46821 VAR_034105 p.Pro1296Leu Polymorphism rs34093016 - MAP1B P46821 VAR_036016 p.Arg326Gln Unclassified - A colorectal cancer sample MAP1B P46821 VAR_036017 p.Val574Met Unclassified - A colorectal cancer sample MAP1B P46821 VAR_056123 p.Ser1917Arg Polymorphism rs13153166 - MAP1S Q66K74 VAR_037236 p.Ser411Cys Polymorphism rs17710707 - MAP1S Q66K74 VAR_037237 p.Pro538Gln Polymorphism rs7252905 - MAP1S Q66K74 VAR_050023 p.Leu372Val Polymorphism rs17710707 - MAP2K1 Q02750 VAR_035093 p.Phe53Ser Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] MAP2K1 Q02750 VAR_035094 p.Tyr130Cys Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] MAP2K2 P36507 VAR_035095 p.Phe57Cys Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] MAP2K3 P46734 VAR_014208 p.Arg175Trp Disease - Colon cancer MAP2K3 P46734 VAR_014209 p.Leu215Val Disease - Colon cancer MAP2K3 P46734 VAR_040817 p.Arg26Thr Polymorphism - - MAP2K3 P46734 VAR_046062 p.Pro40Thr Polymorphism rs33911218 - MAP2K3 P46734 VAR_046063 p.Ser68Pro Polymorphism rs34105301 - MAP2K3 P46734 VAR_046064 p.Ala84Thr Polymorphism rs2305873 - MAP2K3 P46734 VAR_046065 p.Met90Ile Polymorphism rs36076766 - MAP2K3 P46734 VAR_046066 p.Arg94Leu Polymorphism rs56067280 - MAP2K3 P46734 VAR_046067 p.Arg96Trp Polymorphism rs56216806 - MAP2K3 P46734 VAR_046068 p.Arg293His Polymorphism rs35206134 - MAP2K3 P46734 VAR_046069 p.Val339Met Polymorphism rs2363198 - MAP2K3 P46734 VAR_061742 p.Arg55Thr Polymorphism rs36047035 - MAP2K4 P45985 VAR_040818 p.Gln142Leu Unclassified - A lung squamous cell carcinoma sample MAP2K4 P45985 VAR_040819 p.Arg154Trp Unclassified - A colorectal adenocarcinoma sample MAP2K4 P45985 VAR_040820 p.Asn234Ile Unclassified - An ovarian serous carcinoma sample MAP2K4 P45985 VAR_040821 p.Ser251Asn Unclassified - A metastatic melanoma sample MAP2K4 P45985 VAR_040822 p.Ala279Thr Unclassified - A colorectal adenocarcinoma sample MAP2K4 P45985 VAR_062963 p.Ser16Arg Polymorphism rs17855590 - MAP2K5 Q13163 VAR_040823 p.His118Arg Polymorphism rs56241934 - MAP2K5 Q13163 VAR_040824 p.Ala427Val Polymorphism - - MAP2K5 Q13163 VAR_046070 p.Ala428Thr Polymorphism rs55811347 - MAP2K7 O14733 VAR_029890 p.Leu259Phe Polymorphism rs1053566 - MAP2K7 O14733 VAR_040825 p.Asn118Ser Polymorphism rs56316660 - MAP2K7 O14733 VAR_040826 p.Arg138Cys Polymorphism rs56106612 - MAP2K7 O14733 VAR_040827 p.Arg162Cys Unclassified - A colorectal adenocarcinoma sample MAP2K7 O14733 VAR_040828 p.Arg162His Unclassified - A colorectal adenocarcinoma sample MAP2K7 O14733 VAR_040829 p.Ala195Thr Polymorphism rs55800262 - MAP2 P11137 VAR_019612 p.Ala82Gly Polymorphism rs2271251 - MAP2 P11137 VAR_019613 p.Arg423Lys Polymorphism rs741006 - MAP2 P11137 VAR_036014 p.Glu277Asp Unclassified - A colorectal cancer sample MAP2 P11137 VAR_036015 p.Pro705Leu Unclassified - A colorectal cancer sample MAP2 P11137 VAR_050019 p.Glu179Gly Polymorphism rs6749066 - MAP2 P11137 VAR_050020 p.His976Leu Polymorphism rs13425372 - MAP2 P11137 VAR_050021 p.Gly991Arg Polymorphism rs35927101 - MAP2 P11137 VAR_050022 p.Met1099Val Polymorphism rs17745550 - MAP3K10 Q02779 VAR_040702 p.Gly107Glu Unclassified - A metastatic melanoma sample MAP3K10 Q02779 VAR_051639 p.Pro168Gln Polymorphism rs36102209 - MAP3K11 Q16584 VAR_030604 p.Pro252His Polymorphism rs17855912 - MAP3K11 Q16584 VAR_040703 p.Asp151Val Polymorphism rs34178129 - MAP3K11 Q16584 VAR_040704 p.Ala282Gly Polymorphism rs34594252 - MAP3K12 Q12852 VAR_040705 p.Glu409Lys Unclassified - A breast pleomorphic lobular carcinoma sample MAP3K12 Q12852 VAR_040706 p.Gly628Arg Polymorphism rs34366500 - MAP3K12 Q12852 VAR_040707 p.Gly640Ser Polymorphism rs55794887 - MAP3K13 O43283 VAR_030577 p.Arg915His Polymorphism rs3732576 - MAP3K13 O43283 VAR_040708 p.Arg517Gly Polymorphism rs56408536 - MAP3K13 O43283 VAR_040709 p.Glu712Lys Polymorphism rs56309231 - MAP3K13 O43283 VAR_040710 p.Pro746Leu Unclassified - A metastatic melanoma sample MAP3K13 O43283 VAR_051640 p.Glu44Lys Polymorphism rs35266179 - MAP3K14 Q99558 VAR_040711 p.Ser140Asn Polymorphism rs11574819 - MAP3K14 Q99558 VAR_040712 p.Gly514Lys Unclassified - A lung neuroendocrine carcinoma sample MAP3K14 Q99558 VAR_040713 p.Thr764Ala Polymorphism rs56302559 - MAP3K14 Q99558 VAR_040714 p.Thr852Ile Unclassified - An ovarian mucinous carcinoma sample MAP3K14 Q99558 VAR_040715 p.Pro928His Polymorphism rs56036201 - MAP3K14 Q99558 VAR_051641 p.Thr255Met Polymorphism rs11574820 - MAP3K14 Q99558 VAR_051642 p.His674Tyr Polymorphism rs11867907 - MAP3K15 Q6ZN16 VAR_040716 p.Ala192Thr Polymorphism - - MAP3K15 Q6ZN16 VAR_040717 p.Ser199Asn Polymorphism - - MAP3K15 Q6ZN16 VAR_040718 p.Asp226His Polymorphism - - MAP3K15 Q6ZN16 VAR_040719 p.Arg255Ser Unclassified - A lung squamous cell carcinoma sample MAP3K15 Q6ZN16 VAR_040720 p.Ser456Gly Polymorphism - - MAP3K15 Q6ZN16 VAR_040721 p.Arg494Cys Polymorphism - - MAP3K15 Q6ZN16 VAR_040722 p.Ser562Leu Unclassified - A lung adenocarcinoma sample MAP3K15 Q6ZN16 VAR_040723 p.Arg677Gln Unclassified - A metastatic melanoma sample MAP3K15 Q6ZN16 VAR_040724 p.Gly838Ser Polymorphism - - MAP3K15 Q6ZN16 VAR_040725 p.Ser993Leu Polymorphism - - MAP3K15 Q6ZN16 VAR_040726 p.Asn1029His Polymorphism - - MAP3K15 Q6ZN16 VAR_040727 p.Trp1247Arg Unclassified - A colorectal adenocarcinoma sample MAP3K15 Q6ZN16 VAR_040728 p.Gln1251Glu Polymorphism - - MAP3K19 Q56UN5 VAR_041334 p.Ile500Met Unclassified - A breast pleomorphic lobular carcinoma sample MAP3K19 Q56UN5 VAR_051687 p.Thr438Ile Polymorphism rs16831235 - MAP3K19 Q56UN5 VAR_051688 p.Glu676Gln Polymorphism rs1112542 - MAP3K19 Q56UN5 VAR_051689 p.Glu812Gly Polymorphism rs3905317 - MAP3K1 Q13233 VAR_040680 p.Ser92Asn Polymorphism - - MAP3K1 Q13233 VAR_040681 p.Cys443Ser Polymorphism - - MAP3K1 Q13233 VAR_051636 p.Asp806Asn Polymorphism rs702689 - MAP3K1 Q13233 VAR_051637 p.Val906Ile Polymorphism rs832582 - MAP3K1 Q13233 VAR_065504 p.Leu189Pro Disease - 46,XY sex reversal type 6 (SRXY6) [MIM:613762] MAP3K1 Q13233 VAR_065505 p.Leu189Arg Disease - 46,XY sex reversal type 6 (SRXY6) [MIM:613762] MAP3K1 Q13233 VAR_065507 p.Gly616Arg Disease - 46,XY sex reversal type 6 (SRXY6) [MIM:613762] MAP3K2 Q9Y2U5 VAR_040682 p.Ile110Val Polymorphism rs55767983 - MAP3K2 Q9Y2U5 VAR_040683 p.Met112Ile Unclassified - A lung large cell carcinoma sample MAP3K2 Q9Y2U5 VAR_040684 p.Asp140Gly Polymorphism rs56307783 - MAP3K3 Q99759 VAR_037275 p.Ala325Gly Polymorphism rs34042309 - MAP3K3 Q99759 VAR_037276 p.Ala435Gly Polymorphism rs9910858 - MAP3K3 Q99759 VAR_040685 p.Val281Met Polymorphism rs36109904 - MAP3K4 Q9Y6R4 VAR_040686 p.Ile294Thr Polymorphism rs35842248 - MAP3K4 Q9Y6R4 VAR_040687 p.Val335Ile Polymorphism rs35730939 - MAP3K4 Q9Y6R4 VAR_040688 p.Arg566His Polymorphism rs55765351 - MAP3K4 Q9Y6R4 VAR_040689 p.Gln584His Polymorphism rs34018542 - MAP3K4 Q9Y6R4 VAR_040690 p.His906Pro Polymorphism rs35533223 - MAP3K4 Q9Y6R4 VAR_040691 p.Glu1413Gln Unclassified - An ovarian serous carcinoma sample MAP3K4 Q9Y6R4 VAR_040692 p.Ala1492Val Polymorphism - - MAP3K4 Q9Y6R4 VAR_059767 p.Arg157His Polymorphism rs4559074 - MAP3K5 Q99683 VAR_040693 p.Gly1006Arg Polymorphism rs45626535 - MAP3K5 Q99683 VAR_040694 p.Ile1214Thr Polymorphism rs56379668 - MAP3K5 Q99683 VAR_040695 p.Ile1250Val Polymorphism rs35551087 - MAP3K5 Q99683 VAR_040696 p.Thr1314Ile Polymorphism rs45599539 - MAP3K5 Q99683 VAR_040697 p.Asp1315Asn Polymorphism rs41288957 - MAP3K6 O95382 VAR_032832 p.Thr455Ile Polymorphism rs1138294 - MAP3K6 O95382 VAR_032833 p.Asn622Lys Polymorphism rs35659744 - MAP3K6 O95382 VAR_032834 p.Ser969Asn Polymorphism rs17856498 - MAP3K6 O95382 VAR_035629 p.Pro869Thr Unclassified - A breast cancer sample MAP3K6 O95382 VAR_046050 p.Arg499Cys Polymorphism rs11247641 - MAP3K6 O95382 VAR_046051 p.Arg544Trp Polymorphism rs55671988 - MAP3K6 O95382 VAR_046052 p.Arg668Gly Polymorphism rs55869163 - MAP3K6 O95382 VAR_046053 p.Arg673Leu Polymorphism rs56359841 - MAP3K6 O95382 VAR_046054 p.Ser925Leu Unclassified - A breast pleomorphic lobular carcinoma sample MAP3K6 O95382 VAR_046055 p.Thr968Ile Unclassified - An ovarian endometrioid cancer sample MAP3K6 O95382 VAR_046056 p.Ala1061Thr Polymorphism rs55990440 - MAP3K6 O95382 VAR_046057 p.Gly1233Ala Polymorphism rs17162549 - MAP3K8 P41279 VAR_051638 p.Ser214Phe Polymorphism rs3087944 - MAP3K9 P80192 VAR_040698 p.Ala246Val Unclassified - A metastatic melanoma sample MAP3K9 P80192 VAR_040699 p.Arg467Cys Unclassified - A gastric adenocarcinoma sample MAP3K9 P80192 VAR_040700 p.Arg497Gln Polymorphism rs56196343 - MAP3K9 P80192 VAR_040701 p.Tyr646Cys Polymorphism rs34322726 - MAP4K1 Q92918 VAR_040739 p.Pro312Thr Polymorphism rs55924696 - MAP4K1 Q92918 VAR_040740 p.Pro351Ser Polymorphism rs34591617 - MAP4K1 Q92918 VAR_040741 p.Pro361Leu Polymorphism rs56060067 - MAP4K1 Q92918 VAR_040742 p.Ser737Phe Unclassified - A metastatic melanoma sample MAP4K1 Q92918 VAR_051643 p.Asn811Ser Polymorphism rs12975825 - MAP4K3 Q8IVH8 VAR_040743 p.Val200Leu Polymorphism rs35957290 - MAP4K3 Q8IVH8 VAR_040744 p.His424Gln Polymorphism rs56317466 - MAP4K3 Q8IVH8 VAR_040745 p.Thr669Ser Unclassified - A lung squamous cell carcinoma sample MAP4K4 O95819 VAR_040746 p.Ser712Thr Polymorphism - - MAP4K5 Q9Y4K4 VAR_040747 p.Ala334Thr Polymorphism rs12881869 - MAP4K5 Q9Y4K4 VAR_040748 p.Pro407Leu Polymorphism rs34818002 - MAP4K5 Q9Y4K4 VAR_040749 p.Ile446Val Polymorphism rs55815015 - MAP4K5 Q9Y4K4 VAR_040750 p.Asn473Lys Polymorphism rs35768475 - MAP4K5 Q9Y4K4 VAR_040751 p.Arg552Gln Polymorphism rs55997280 - MAP4K5 Q9Y4K4 VAR_040752 p.Thr633Met Polymorphism rs17780143 - MAP4K5 Q9Y4K4 VAR_057102 p.His41Tyr Polymorphism rs34726242 - MAP4 P27816 VAR_020361 p.Ser427Tyr Polymorphism rs1060407 - MAP4 P27816 VAR_020362 p.Glu441Gln Polymorphism rs2230169 - MAP4 P27816 VAR_039566 p.Arg23Gln Polymorphism rs11711953 - MAP4 P27816 VAR_039567 p.Pro366Leu Polymorphism rs13097415 - MAP4 P27816 VAR_039568 p.Ser367Pro Polymorphism rs13096947 - MAP4 P27816 VAR_039569 p.Asp409Gly Polymorphism rs13076542 - MAP4 P27816 VAR_039570 p.Val628Ile Polymorphism rs1137524 - MAP4 P27816 VAR_039571 p.Ile994Val Polymorphism rs35736893 - MAP6 Q96JE9 VAR_044542 p.Ile247Met Polymorphism rs12225010 - MAP7D1 Q3KQU3 VAR_035312 p.Arg104Trp Polymorphism rs2296266 - MAP7D1 Q3KQU3 VAR_053970 p.Arg531Ser Polymorphism rs12563354 - MAP7D2 Q96T17 VAR_035313 p.Asn182Ser Polymorphism rs34519770 - MAP7D2 Q96T17 VAR_035450 p.Ala32Pro Unclassified - A breast cancer sample MAP7D3 Q8IWC1 VAR_035314 p.Glu502Ala Polymorphism rs1055497 - MAP7D3 Q8IWC1 VAR_035315 p.Gln628Arg Polymorphism rs2273221 - MAP7 Q14244 VAR_028880 p.Arg558Trp Polymorphism rs2076190 - MAP7 Q14244 VAR_034091 p.Val361Ile Polymorphism rs35350783 - MAP7 Q14244 VAR_034092 p.Arg526Pro Polymorphism rs35107962 - MAP9 Q49MG5 VAR_027151 p.Arg177Trp Polymorphism rs3733391 - MAP9 Q49MG5 VAR_051152 p.Met146Val Polymorphism rs34082815 - MAP9 Q49MG5 VAR_051153 p.Lys499Arg Polymorphism rs1058992 - MAP9 Q49MG5 VAR_051154 p.Asn601Asp Polymorphism rs2305050 - MAPK11 Q15759 VAR_025176 p.Arg275His Polymorphism rs33932986 - MAPK11 Q15759 VAR_042264 p.Ala221Val Unclassified - A lung neuroendocrine carcinoma sample MAPK12 P53778 VAR_012002 p.Thr244Met Polymorphism rs2066776 - MAPK12 P53778 VAR_042265 p.Thr103Met Polymorphism rs34422484 - MAPK12 P53778 VAR_042266 p.Asp230Asn Polymorphism rs35396905 - MAPK13 O15264 VAR_042267 p.Ser41Leu Polymorphism rs55776345 - MAPK13 O15264 VAR_042268 p.Ala282Val Polymorphism rs55990045 - MAPK13 O15264 VAR_042269 p.Ala300Thr Polymorphism rs41270090 - MAPK14 Q16539 VAR_042270 p.Ala51Val Unclassified - A gastric adenocarcinoma sample MAPK14 Q16539 VAR_042271 p.Pro322Arg Unclassified - A lung adenocarcinoma sample MAPK14 Q16539 VAR_042272 p.Asp343Gly Polymorphism rs45496794 - MAPK15 Q8TD08 VAR_061535 p.Thr221Lys Polymorphism rs60732298 - MAPK15 Q8TD08 VAR_061536 p.Ser505Pro Polymorphism rs56038219 - MAPK3 P27361 VAR_042253 p.Glu323Lys Polymorphism rs55859133 - MAPK4 P31152 VAR_042254 p.Val38Met Polymorphism rs3752087 - MAPK4 P31152 VAR_042255 p.Arg371Pro Polymorphism rs3752089 - MAPK6 Q16659 VAR_042256 p.Leu290Val Polymorphism rs35697691 - MAPK7 Q13164 VAR_042257 p.Gly550Ala Polymorphism rs56388327 - MAPK7 Q13164 VAR_046225 p.Arg535His Polymorphism - - MAPK8IP1 Q9UQF2 VAR_012243 p.Ser59Asn Disease - Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853] MAPK8IP1 Q9UQF2 VAR_049664 p.Ala322Val Polymorphism rs34420676 - MAPK8IP1 Q9UQF2 VAR_049665 p.Arg353Gln Polymorphism rs12295161 - MAPK8IP2 Q13387 VAR_049666 p.Pro743Leu Polymorphism rs1140555 - MAPK8IP3 Q9UPT6 VAR_049667 p.Thr753Ala Polymorphism rs2294619 - MAPK8 P45983 VAR_042258 p.Gly171Ser Unclassified - A renal clear cell carcinoma sample MAPK8 P45983 VAR_042259 p.Gly177Arg Unclassified - A glioblastoma multiforme sample MAPK8 P45983 VAR_050592 p.Glu365Lys Polymorphism rs45483593 - MAPK9 P45984 VAR_025175 p.Gly268Ala Polymorphism rs35693958 - MAPK9 P45984 VAR_042260 p.Val13Met Unclassified - A colorectal adenocarcinoma sample MAPK9 P45984 VAR_042261 p.Lys56Asn Unclassified - A head & Neck squamous cell carcinoma sample MAPK9 P45984 VAR_042262 p.Ala246Thr Polymorphism rs35421153 - MAPK9 P45984 VAR_042263 p.Arg366Ile Polymorphism rs55736180 - MAPKAPK2 P49137 VAR_040753 p.Ala173Gly Polymorphism rs35671930 - MAPKAPK2 P49137 VAR_040754 p.Ala361Ser Polymorphism rs55894011 - MAPKAPK3 Q16644 VAR_040755 p.Pro28Ser Unclassified - A glioblastoma multiforme sample MAPKAPK3 Q16644 VAR_040756 p.Glu105Ala Unclassified - - MAPKAPK3 Q16644 VAR_040757 p.Asp276Tyr Polymorphism rs56107897 - MAPKAPK5 Q8IW41 VAR_040758 p.Met67Ile Polymorphism rs34132040 - MAPKAPK5 Q8IW41 VAR_040759 p.Arg282Lys Polymorphism rs34843470 - MAPKBP1 O60336 VAR_043343 p.Tyr204Ser Polymorphism rs4354909 - MAPKBP1 O60336 VAR_043344 p.Leu313Val Polymorphism rs1201689 - MAPKBP1 O60336 VAR_043345 p.Arg1240Pro Polymorphism rs3959569 - MAPRE2 Q15555 VAR_050018 p.Tyr162Cys Polymorphism rs11538993 - MAPT P10636 VAR_010340 p.Asp285Asn Unclassified - - MAPT P10636 VAR_010341 p.Val289Ala Unclassified - - MAPT P10636 VAR_010342 p.Tyr441His Polymorphism rs2258689 - MAPT P10636 VAR_010343 p.Ser447Pro Polymorphism rs10445337 - MAPT P10636 VAR_010344 p.Lys574Thr Disease - Pick disease of the brain (PIDB) [MIM:172700] MAPT P10636 VAR_010345 p.Gly589Val Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010346 p.Asn596Lys Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010348 p.Pro618Leu Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010349 p.Pro618Ser Disease - Corticobasal degeneration (CBD) MAPT P10636 VAR_010349 p.Pro618Ser Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010350 p.Ser622Asn Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010351 p.Val654Met Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_010352 p.Gly706Arg Disease - Pick disease of the brain (PIDB) [MIM:172700] MAPT P10636 VAR_010353 p.Arg723Trp Unclassified - - MAPT P10636 VAR_019660 p.Arg5His Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_019661 p.Arg5Leu Disease - Progressive supranuclear palsy type 1 (PSNP1) [MIM:601104] MAPT P10636 VAR_019662 p.Leu583Val Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_019663 p.Asn613His Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_019665 p.Ser637Phe Disease - Pick disease of the brain (PIDB) [MIM:172700] MAPT P10636 VAR_019666 p.Glu659Val Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_019667 p.Ser669Leu Unclassified - - MAPT P10636 VAR_019668 p.Lys686Ile Disease - Pick disease of the brain (PIDB) [MIM:172700] MAPT P10636 VAR_037439 p.Gly620Val Disease - Progressive supranuclear palsy type 1 (PSNP1) [MIM:601104] MAPT P10636 VAR_037440 p.Lys634Met Disease - Frontotemporal dementia (FTD) [MIM:600274] MAPT P10636 VAR_056121 p.Arg370Trp Polymorphism rs17651549 - MAPT P10636 VAR_064622 p.Thr17Met Polymorphism - - MAPT P10636 VAR_064623 p.Thr30Ala Polymorphism - - MAPT P10636 VAR_064624 p.Val617Ile Polymorphism - - MARC1 Q5VT66 VAR_030129 p.Thr165Ala Polymorphism rs2642438 - MARC1 Q5VT66 VAR_030130 p.Met187Lys Polymorphism rs17850677 - MARC1 Q5VT66 VAR_030131 p.Cys246Ser Polymorphism rs3738178 - MARC1 Q5VT66 VAR_030132 p.Met268Ile Polymorphism rs2642419 - MARC1 Q5VT66 VAR_056941 p.Val96Leu Polymorphism rs12023067 - MARC1 Q5VT66 VAR_062273 p.Leu15His Polymorphism - - MARC1 Q5VT66 VAR_062274 p.Asp247His Polymorphism - - MARC2 Q969Z3 VAR_030133 p.Gly244Ser Polymorphism rs3795535 - MARC2 Q969Z3 VAR_062275 p.Ala3Ser Polymorphism - - MARCH10 Q8NA82 VAR_029461 p.Gly241Glu Polymorphism rs17853369 - MARCH10 Q8NA82 VAR_029462 p.Phe319Ser Polymorphism rs9891498 - MARCH10 Q8NA82 VAR_029463 p.Glu742Lys Polymorphism rs16946335 - MARCH2 Q9P0N8 VAR_030303 p.Ala54Thr Polymorphism rs1133893 - MARCH2 Q9P0N8 VAR_053638 p.Arg219Pro Polymorphism rs34099346 - MARCH3 Q86UD3 VAR_053639 p.Arg68Gln Polymorphism rs34821177 - MARCH6 O60337 VAR_030251 p.Pro622Leu Polymorphism rs1062914 - MARCH7 Q9H992 VAR_030284 p.Thr100Ser Polymorphism rs17813964 - MARCH7 Q9H992 VAR_030285 p.Thr193Ile Polymorphism rs16844275 - MARCH7 Q9H992 VAR_030286 p.Gly379Ser Polymorphism rs13024801 - MARCH8 Q5T0T0 VAR_030266 p.Pro92Ser Polymorphism rs3764990 - MARCH8 Q5T0T0 VAR_030267 p.Tyr266His Polymorphism rs7908745 - MARCH9 Q86YJ5 VAR_030246 p.Gln257His Polymorphism rs17856312 - MARCH9 Q86YJ5 VAR_030247 p.Thr307Pro Polymorphism rs17850517 - MARCKS P29966 VAR_025825 p.Pro250Leu Polymorphism rs45593337 - MARCKS P29966 VAR_025826 p.Ala274Val Polymorphism rs3734458 - MARCO Q9UEW3 VAR_024650 p.Phe282Ser Polymorphism rs6761637 - MARK1 Q9P0L2 VAR_030018 p.Arg645Gly Polymorphism rs12123778 - MARK1 Q9P0L2 VAR_040760 p.Tyr233Cys Unclassified - A gastric adenocarcinoma sample MARK1 Q9P0L2 VAR_040761 p.Asn355Thr Unclassified - An ovarian serous carcinoma sample MARK1 Q9P0L2 VAR_040762 p.Val530Met Polymorphism rs56212551 - MARK1 Q9P0L2 VAR_040763 p.Pro578Leu Polymorphism rs55691439 - MARK1 Q9P0L2 VAR_040764 p.Glu691Gly Polymorphism rs55688276 - MARK3 P27448 VAR_040765 p.Val429Ala Polymorphism - - MARK3 P27448 VAR_046763 p.Ser443Gly Polymorphism rs56305318 - MARK4 Q96L34 VAR_040766 p.Arg377Gln Polymorphism rs35070611 - MARK4 Q96L34 VAR_040767 p.Arg418Cys Unclassified - A colorectal adenocarcinoma sample MARS P56192 VAR_020459 p.Ala683Asp Polymorphism rs1054403 - MARVELD2 Q8N4S9 VAR_047436 p.Thr33Ile Polymorphism rs1185246 - MARVELD3 Q96A59 VAR_029893 p.Glu60Lys Polymorphism rs4788821 - MAS1L P35410 VAR_049416 p.Asp288Glu Polymorphism rs17184100 - MASP1 P48740 VAR_051831 p.Thr21Ile Polymorphism rs1062049 - MASP1 P48740 VAR_051832 p.Val568Ala Polymorphism rs13322090 - MASP1 P48740 VAR_051833 p.Gly679Arg Polymorphism rs3774266 - MASP2 O00187 VAR_025344 p.Arg99Gln Polymorphism - - MASP2 O00187 VAR_025345 p.Arg118Cys Polymorphism - - MASP2 O00187 VAR_025346 p.Asp120Gly Disease - MASP2 deficiency (MASPD) [MIM:613791] MASP2 O00187 VAR_025347 p.Pro126Leu Disease rs56392418 MASP2 deficiency (MASPD) [MIM:613791] MASP2 O00187 VAR_028784 p.His155Arg Polymorphism rs2273343 - MASP2 O00187 VAR_028785 p.Asp371Tyr Polymorphism rs12711521 - MASP2 O00187 VAR_028786 p.Val377Ala Polymorphism rs2273346 - MASP2 O00187 VAR_028787 p.Arg439His Polymorphism rs12085877 - MAST1 Q9Y2H9 VAR_040768 p.Ala269Thr Unclassified - A metastatic melanoma sample MAST1 Q9Y2H9 VAR_040769 p.His1240Tyr Unclassified - An ovarian serous carcinoma sample MAST1 Q9Y2H9 VAR_040770 p.Pro1292Ser Polymorphism rs35071862 - MAST1 Q9Y2H9 VAR_051644 p.Ala1048Ser Polymorphism rs35052801 - MAST2 Q6P0Q8 VAR_040771 p.Leu69Phe Polymorphism rs55914403 - MAST2 Q6P0Q8 VAR_040772 p.Lys275Glu Unclassified - An ovarian mucinous carcinoma sample MAST2 Q6P0Q8 VAR_040773 p.Asp388Glu Polymorphism rs11211247 - MAST2 Q6P0Q8 VAR_040774 p.Gly655Ala Unclassified - A breast mucinous carcinoma sample MAST2 Q6P0Q8 VAR_040775 p.Ile659Met Polymorphism rs1707336 - MAST2 Q6P0Q8 VAR_040776 p.Arg991Leu Polymorphism rs56114653 - MAST2 Q6P0Q8 VAR_040777 p.Lys1197Arg Polymorphism rs1052607 - MAST2 Q6P0Q8 VAR_040778 p.Asp1221Glu Polymorphism rs56060730 - MAST2 Q6P0Q8 VAR_040779 p.Arg1246Leu Polymorphism rs56309943 - MAST2 Q6P0Q8 VAR_040780 p.Val1304Met Polymorphism rs33931638 - MAST2 Q6P0Q8 VAR_040781 p.Ala1463Thr Polymorphism rs3737738 - MAST2 Q6P0Q8 VAR_040782 p.Gly1468Ala Polymorphism rs3737737 - MAST2 Q6P0Q8 VAR_040783 p.Asp1551Gly Polymorphism rs1052610 - MAST2 Q6P0Q8 VAR_040784 p.Lys1673Arg Polymorphism rs34070850 - MAST2 Q6P0Q8 VAR_040785 p.Gly1703Glu Polymorphism - - MAST2 Q6P0Q8 VAR_051645 p.Thr1608Ile Polymorphism rs35474583 - MAST3 O60307 VAR_040786 p.Gly883Ser Polymorphism - - MAST3 O60307 VAR_051646 p.Arg203Gln Polymorphism rs35945810 - MAST3 O60307 VAR_051647 p.Gly861Ser Polymorphism rs8108738 - MAST4 O15021 VAR_040787 p.Gln923Arg Polymorphism - - MAST4 O15021 VAR_040788 p.Arg1957Trp Polymorphism - - MAST4 O15021 VAR_040789 p.Pro2201Leu Polymorphism - - MAST4 O15021 VAR_040790 p.Ser2293Cys Polymorphism - - MAST4 O15021 VAR_040791 p.Glu2470Asp Unclassified - A lung squamous cell carcinoma sample MAST4 O15021 VAR_059768 p.Ala77Pro Polymorphism rs6867856 - MASTL Q96GX5 VAR_022838 p.Glu167Asp Disease rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000] MASTL Q96GX5 VAR_022839 p.Pro620Ala Polymorphism rs3802526 - MASTL Q96GX5 VAR_040792 p.Thr337Lys Polymorphism rs36121140 - MASTL Q96GX5 VAR_040793 p.Val610Ile Polymorphism rs35571315 - MASTL Q96GX5 VAR_057103 p.Asp606Tyr Polymorphism rs35413630 - MAT1A Q00266 VAR_006935 p.Ala55Asp Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006936 p.Arg199Cys Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006937 p.Arg264His Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006938 p.Leu305Pro Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006939 p.Ile322Met Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006940 p.Arg356Gln Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006941 p.Pro357Leu Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_006942 p.Gly378Ser Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_028944 p.Gln119His Polymorphism rs1143693 - MAT1A Q00266 VAR_031242 p.Ser38Asn Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_031243 p.Arg264Cys Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_031244 p.Gly336Arg Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT1A Q00266 VAR_031245 p.Glu344Ala Disease - Methionine adenosyltransferase deficiency (MATD) [MIM:250850] MAT2B Q9NZL9 VAR_032318 p.Ala293Thr Polymorphism rs17849948 - MATK P42679 VAR_041679 p.Ala354Thr Unclassified - An ovarian mucinous carcinoma sample MATK P42679 VAR_041680 p.Ala496Thr Polymorphism rs35351680 - MATK P42679 VAR_041681 p.Arg503Gln Unclassified - A colorectal adenocarcinoma sample MATN2 O00339 VAR_021568 p.Lys356Glu Polymorphism rs1869609 - MATN2 O00339 VAR_055753 p.Gly14Ala Polymorphism rs35804177 - MATN2 O00339 VAR_055754 p.Thr187Met Polymorphism rs2290472 - MATN2 O00339 VAR_055755 p.Ala599Thr Polymorphism rs35120814 - MATN2 O00339 VAR_055756 p.Thr855Met Polymorphism rs2255317 - MATN2 O00339 VAR_055757 p.Val932Ile Polymorphism rs17831160 - MATN3 O15232 VAR_013691 p.Arg121Trp Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_013692 p.Val194Asp Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_015852 p.Thr303Met Polymorphism rs28939676 - MATN3 O15232 VAR_019881 p.Pro11Ser Polymorphism - - MATN3 O15232 VAR_019882 p.Thr120Met Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019883 p.Ala128Pro Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019884 p.Glu134Lys Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019885 p.Ile192Asn Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019886 p.Ala219Asp Disease rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_019887 p.Glu252Lys Polymorphism rs52826764 - MATN3 O15232 VAR_019888 p.Cys304Ser Disease - Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728] MATN3 O15232 VAR_020844 p.Phe105Ser Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_054807 p.Arg70His Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_054808 p.Thr195Lys Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN3 O15232 VAR_054809 p.Tyr218Asn Disease - Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] MATN4 O95460 VAR_055758 p.Leu13Phe Polymorphism rs2743307 - MATN4 O95460 VAR_055759 p.Arg164Ser Polymorphism rs2072788 - MATR3 P43243 VAR_063421 p.Ser85Cys Disease rs121434591 Myopathy distal type 2 (MPD2) [MIM:606070] MAVS Q7Z434 VAR_018448 p.Ser409Phe Polymorphism rs7269320 - MAVS Q7Z434 VAR_048609 p.Cys79Phe Polymorphism rs11905552 - MAVS Q7Z434 VAR_048610 p.Gln93Glu Polymorphism rs17857295 - MAVS Q7Z434 VAR_048611 p.Gln198Lys Polymorphism rs7262903 - MAVS Q7Z434 VAR_059197 p.Cys79Ser Polymorphism rs11908032 - MB21D1 Q8N884 VAR_033677 p.Pro261His Polymorphism rs610913 - MB21D1 Q8N884 VAR_050811 p.Thr35Asn Polymorphism rs9352000 - MBD1 Q9UIS9 VAR_019513 p.Pro401Ala Polymorphism rs125555 - MBD3L1 Q8WWY6 VAR_051155 p.Arg190Cys Polymorphism rs2972588 - MBD4 O95243 VAR_019357 p.Ala273Ser Polymorphism rs10342 - MBD4 O95243 VAR_019358 p.Ser342Pro Polymorphism rs2307289 - MBD4 O95243 VAR_019359 p.Glu346Lys Polymorphism rs140693 - MBD4 O95243 VAR_019360 p.Asp568His Polymorphism rs2307293 - MBD4 O95243 VAR_019514 p.Ala273Thr Polymorphism rs10342 - MBD4 O95243 VAR_019515 p.Ile358Thr Polymorphism rs2307298 - MBD4 O95243 VAR_029306 p.Cys61Arg Polymorphism rs2307296 - MBD5 Q9P267 VAR_037561 p.Thr144Ile Unclassified - - MBD5 Q9P267 VAR_037562 p.Arg461His Unclassified - - MBD5 Q9P267 VAR_037563 p.Asp654Glu Unclassified - - MBD5 Q9P267 VAR_037564 p.Ala655Thr Unclassified - - MBD5 Q9P267 VAR_037565 p.Ser677Asn Polymorphism - - MBD5 Q9P267 VAR_037566 p.Ala857Thr Unclassified - - MBD5 Q9P267 VAR_037567 p.Thr1048Ile Unclassified - - MBIP Q9NS73 VAR_018449 p.Leu7His Polymorphism rs2899849 - MBIP Q9NS73 VAR_034093 p.Arg22Ser Polymorphism rs3168891 - MBL2 P11226 VAR_004182 p.Gly54Asp Polymorphism rs1800450 - MBL2 P11226 VAR_004183 p.Gly57Glu Polymorphism rs1800451 - MBL2 P11226 VAR_008543 p.Arg52Cys Polymorphism rs5030737 - MBL2 P11226 VAR_013294 p.Thr24Ala Unclassified - - MBL2 P11226 VAR_050119 p.Asn214Tyr Polymorphism rs12260094 - MBLAC1 A4D2B0 VAR_043567 p.Pro79His Polymorphism rs17852945 - MBLAC1 A4D2B0 VAR_043568 p.His114Asn Polymorphism rs17852946 - MBLAC2 Q68D91 VAR_039956 p.Thr128Ala Polymorphism rs2162986 - MBOAT1 Q6ZNC8 VAR_050025 p.Ile450Val Polymorphism rs2065649 - MBOAT2 Q6ZWT7 VAR_030068 p.Thr501Ala Polymorphism rs16866827 - MBOAT4 Q96T53 VAR_030069 p.Gly231Glu Polymorphism rs16876563 - MBOAT4 Q96T53 VAR_059434 p.Thr46Ala Polymorphism rs7813902 - MBOAT7 Q96N66 VAR_038526 p.Phe261Leu Polymorphism rs17855385 - MBOAT7 Q96N66 VAR_038527 p.Val415Leu Polymorphism rs35909464 - MB P02144 VAR_003180 p.Glu55Lys Polymorphism - - MB P02144 VAR_003181 p.Lys134Asn Polymorphism - - MB P02144 VAR_003182 p.Arg140Gln Polymorphism - - MB P02144 VAR_003183 p.Arg140Trp Polymorphism - - MBTPS1 Q14703 VAR_051822 p.Ile6Thr Polymorphism rs34701895 - MBTPS1 Q14703 VAR_051823 p.Arg90Gly Polymorphism rs34076105 - MBTPS2 O43462 VAR_063054 p.Met87Ile Disease - Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] MBTPS2 O43462 VAR_063055 p.Trp226Leu Disease - Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] MBTPS2 O43462 VAR_063056 p.His227Leu Disease - Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] MBTPS2 O43462 VAR_063057 p.Arg429His Disease - Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] MBTPS2 O43462 VAR_063058 p.Phe475Ser Disease - Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] MBTPS2 O43462 VAR_064409 p.Asn508Ser Disease - Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800] MC1R Q01726 VAR_003507 p.Asp84Glu Polymorphism rs1805006 - MC1R Q01726 VAR_003508 p.Val92Met Polymorphism rs2228479 - MC1R Q01726 VAR_008522 p.Arg151Cys Polymorphism rs1805007 - MC1R Q01726 VAR_008523 p.Arg160Trp Polymorphism rs1805008 - MC1R Q01726 VAR_008524 p.Asp294His Polymorphism rs1805009 - MC1R Q01726 VAR_009522 p.Arg67Gln Polymorphism rs34090186 - MC1R Q01726 VAR_009523 p.Arg163Gln Polymorphism rs885479 - MC1R Q01726 VAR_013611 p.Ile40Thr Unclassified - - MC1R Q01726 VAR_013612 p.Val60Leu Polymorphism rs1805005 - MC1R Q01726 VAR_013613 p.Val122Met Unclassified - - MC1R Q01726 VAR_013614 p.Ile155Thr Polymorphism rs1110400 - MC1R Q01726 VAR_013615 p.Val156Leu Polymorphism rs3212365 - MC1R Q01726 VAR_013616 p.Phe196Leu Polymorphism rs3212366 - MC1R Q01726 VAR_013632 p.Arg162Pro Polymorphism - - MC1R Q01726 VAR_042654 p.Gly89Arg Polymorphism rs34540312 - MC1R Q01726 VAR_042655 p.Thr95Met Polymorphism rs34158934 - MC1R Q01726 VAR_042656 p.Gly104Ser Polymorphism rs2229617 - MC1R Q01726 VAR_042657 p.Ile120Thr Polymorphism rs33932559 - MC1R Q01726 VAR_042659 p.Thr157Ile Unclassified - - MC1R Q01726 VAR_042660 p.Pro159Thr Unclassified - - MC1R Q01726 VAR_042661 p.Ala166Gly Polymorphism rs35040147 - MC1R Q01726 VAR_042662 p.Ala171Ser Polymorphism rs35784916 - MC1R Q01726 VAR_042663 p.Leu192Met Unclassified - - MC1R Q01726 VAR_059018 p.Val38Met Disease - Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] MC1R Q01726 VAR_059019 p.Ser41Phe Disease - Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] MC1R Q01726 VAR_059020 p.Val51Ala Disease - Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] MC1R Q01726 VAR_059021 p.Leu93Arg Unclassified - - MC1R Q01726 VAR_059022 p.Met128Thr Disease - Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] MC1R Q01726 VAR_059023 p.Arg142His Polymorphism rs11547464 - MC1R Q01726 VAR_059024 p.Asn281Ser Polymorphism - - MC1R Q01726 VAR_059025 p.Cys289Arg Disease - Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] MC2R Q01718 VAR_003509 p.Pro27Arg Polymorphism rs28926178 - MC2R Q01718 VAR_003510 p.Ser74Ile Disease - Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_003511 p.Ser120Arg Disease - Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_003512 p.Arg128Cys Disease - Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_003513 p.Arg146His Disease - Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_010702 p.Asp103Asn Disease - Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_010703 p.Arg137Trp Disease - Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_015095 p.Asp107Asn Disease - Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_015096 p.Cys251Phe Disease - Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_015295 p.Tyr254Cys Disease rs28940892 Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] MC2R Q01718 VAR_049369 p.Phe278Cys Polymorphism rs28926182 - MC2R Q01718 VAR_064986 p.Arg137Pro Unclassified - - MC3R P41968 VAR_020070 p.Val44Ile Polymorphism rs3827103 - MC3R P41968 VAR_055000 p.Ile146Asn Unclassified - - MC3R P41968 VAR_055001 p.Ile298Ser Unclassified - - MC4R P32245 VAR_010704 p.Ser30Arg Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010705 p.Asp37Val Disease rs13447325 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010706 p.Pro78Leu Disease rs13447326 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010707 p.Val103Ile Polymorphism rs2229616 - MC4R P32245 VAR_010708 p.Thr112Met Polymorphism rs13447329 - MC4R P32245 VAR_010709 p.Arg165Trp Disease rs13447332 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010710 p.Ile251Leu Polymorphism rs52820871 - MC4R P32245 VAR_010711 p.Gly252Ser Disease rs13447336 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_010712 p.Ile317Thr Disease rs13447337 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_015357 p.Asn274Ser Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038632 p.Thr11Ala Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038633 p.Ser36Tyr Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038634 p.Val50Met Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038635 p.Ser58Cys Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038636 p.Asn62Ser Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038638 p.Asn97Asp Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038639 p.Ile102Ser Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038640 p.Ile102Thr Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038641 p.Leu106Pro Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038642 p.Ile125Lys Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038643 p.Ser127Leu Disease rs13447331 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038644 p.Arg165Gln Disease rs13447332 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038645 p.Ile170Val Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038646 p.Ala175Thr Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038647 p.Gly181Asp Disease rs13447333 Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038648 p.Ala219Val Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038649 p.Ile226Thr Polymorphism - - MC4R P32245 VAR_038650 p.Val253Ile Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038651 p.Cys271Arg Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038652 p.Cys271Tyr Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038653 p.Ile316Ser Disease - Obesity (OBESITY) [MIM:601665] MC4R P32245 VAR_038654 p.Leu325Phe Disease - Obesity (OBESITY) [MIM:601665] MC5R P33032 VAR_013128 p.Phe209Leu Polymorphism rs2236700 - MCAM P43121 VAR_049915 p.Glu89Gly Polymorphism rs34587557 - MCAT Q8IVS2 VAR_048183 p.Ala303Gly Polymorphism rs13815 - MCCC1 Q96RQ3 VAR_012785 p.Ala289Val Disease - Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012786 p.Met325Arg Disease - Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012787 p.Arg385Ser Disease rs28934881 Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012788 p.Leu437Pro Disease rs28934882 Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012789 p.His464Pro Polymorphism rs2270968 - MCCC1 Q96RQ3 VAR_012790 p.Asp532His Disease - Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_012791 p.Ser535Phe Disease - Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] MCCC1 Q96RQ3 VAR_038631 p.Asn560Thr Polymorphism rs35219417 - MCCC2 Q9HCC0 VAR_012792 p.Glu99Gln Disease rs28934883 Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012793 p.Arg155Gln Disease - Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012794 p.Cys167Arg Disease rs28934884 Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012795 p.Ser173Leu Disease - Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012796 p.Arg193Cys Disease - Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012797 p.Ala218Thr Disease - Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012798 p.Arg268Thr Disease - Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012799 p.Pro310Arg Disease - Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012800 p.Val339Met Disease - Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_012801 p.Ile437Val Disease - Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] MCCC2 Q9HCC0 VAR_038630 p.Ala478Gly Polymorphism rs35068278 - MCCD1 P59942 VAR_017161 p.Glu42Lys Polymorphism rs2259435 - MCCD1 P59942 VAR_017162 p.Ser45Asn Polymorphism rs3093983 - MCCD1 P59942 VAR_017163 p.Thr53Met Polymorphism - - MCC P23508 VAR_005141 p.Arg267Leu Unclassified - A colorectal cancer sample MCC P23508 VAR_005142 p.Pro486Leu Unclassified rs35269015 A colorectal cancer sample MCC P23508 VAR_005143 p.Ser490Leu Unclassified - A colorectal cancer sample MCC P23508 VAR_005144 p.Arg506Gln Unclassified - Colorectal cancer samples MCC P23508 VAR_005145 p.Ala698Val Unclassified - Colorectal cancer samples MCC P23508 VAR_033753 p.Ser751Cys Polymorphism rs17313892 - MCC P23508 VAR_050905 p.Lys190Arg Polymorphism rs6594681 - MCEE Q96PE7 VAR_019511 p.Arg104Leu Polymorphism rs6748672 - MCEE Q96PE7 VAR_049248 p.Ala76Val Polymorphism rs11541017 - MCEMP1 Q8IX19 VAR_030180 p.Ile167Val Polymorphism - - MCEMP1 Q8IX19 VAR_051159 p.Leu175Val Polymorphism rs10409343 - MCEMP1 Q8IX19 VAR_059697 p.Val129Ile Polymorphism rs8111596 - MCF2L2 Q86YR7 VAR_043587 p.Thr159Met Polymorphism rs12632177 - MCF2L2 Q86YR7 VAR_043588 p.Leu254Pro Unclassified - A colorectal cancer sample MCF2L2 Q86YR7 VAR_043589 p.Asn277Ser Polymorphism rs13082605 - MCF2L2 Q86YR7 VAR_043590 p.Ile359Leu Polymorphism rs7639705 - MCF2L2 Q86YR7 VAR_043591 p.Gln378Leu Polymorphism rs2293203 - MCF2L2 Q86YR7 VAR_043592 p.Phe589Ser Polymorphism rs3732602 - MCF2L2 Q86YR7 VAR_043593 p.Arg622His Unclassified - A colorectal cancer sample MCF2L2 Q86YR7 VAR_043594 p.Phe772Leu Polymorphism rs9826325 - MCF2L2 Q86YR7 VAR_043595 p.Thr902Ala Polymorphism rs6804951 - MCF2L2 Q86YR7 VAR_043596 p.Met1015Thr Polymorphism rs35070271 - MCF2L2 Q86YR7 VAR_043597 p.Leu1039Phe Unclassified - A breast cancer sample MCFD2 Q8NI22 VAR_019076 p.Asp129Glu Disease rs28942113 Factor V and factor VIII combined deficiency type 2 (F5F8D2) [MIM:613625] MCFD2 Q8NI22 VAR_019077 p.Ile136Thr Disease rs28942114 Factor V and factor VIII combined deficiency type 2 (F5F8D2) [MIM:613625] MCHR1 Q99705 VAR_016221 p.Asn32Asp Polymorphism rs133072 - MCHR1 Q99705 VAR_026652 p.Thr25Met Polymorphism - - MCHR1 Q99705 VAR_026653 p.Asp28Val Polymorphism - - MCHR1 Q99705 VAR_026654 p.Gly34Arg Unclassified - - MCHR1 Q99705 VAR_026655 p.Arg210His Polymorphism - - MCHR1 Q99705 VAR_026656 p.Tyr250His Polymorphism - - MCHR1 Q99705 VAR_026657 p.Thr305Met Polymorphism - - MCHR1 Q99705 VAR_026658 p.Arg317Gln Polymorphism rs45439291 - MCHR1 Q99705 VAR_026659 p.Pro377Ser Polymorphism - - MCHR1 Q99705 VAR_026660 p.Thr411Met Polymorphism - - MCHR1 Q99705 VAR_049417 p.Gly103Arg Polymorphism rs11914085 - MCHR2 Q969V1 VAR_026661 p.Arg63Lys Unclassified - - MCHR2 Q969V1 VAR_026662 p.Arg152Gln Unclassified - - MCL1 Q07820 VAR_024021 p.Glu173Asp Polymorphism rs2737820 - MCL1 Q07820 VAR_024022 p.Ala227Val Polymorphism rs11580946 - MCL1 Q07820 VAR_054157 p.Met231Leu Polymorphism - - MCM10 Q7L590 VAR_030771 p.Lys134Arg Polymorphism rs17152897 - MCM10 Q7L590 VAR_030772 p.Thr541Ser Polymorphism rs7905784 - MCM10 Q7L590 VAR_030773 p.Lys669Arg Polymorphism rs2274110 - MCM10 Q7L590 VAR_053836 p.Ala195Pro Polymorphism rs34630110 - MCM10 Q7L590 VAR_053837 p.Ala418Val Polymorphism rs35114749 - MCM2 P49736 VAR_016137 p.Ala396Thr Polymorphism rs3087450 - MCM2 P49736 VAR_016138 p.Val667Met Polymorphism rs2307311 - MCM2 P49736 VAR_016139 p.Ala727Thr Polymorphism rs2307313 - MCM2 P49736 VAR_021111 p.Asp68Glu Polymorphism rs3087452 - MCM2 P49736 VAR_021112 p.Leu135Phe Polymorphism rs2307314 - MCM2 P49736 VAR_033298 p.Glu166Gln Polymorphism rs1048225 - MCM2 P49736 VAR_033299 p.Gly501Arg Polymorphism rs13087457 - MCM3AP O60318 VAR_019240 p.Ser102Leu Polymorphism rs9975588 - MCM3AP O60318 VAR_019241 p.Met288Val Polymorphism rs17182545 - MCM3AP O60318 VAR_019242 p.Arg333Leu Polymorphism rs17182552 - MCM3AP O60318 VAR_019243 p.Pro413Leu Polymorphism rs17182566 - MCM3AP O60318 VAR_019244 p.Pro1051Leu Polymorphism rs17182850 - MCM3AP O60318 VAR_019245 p.Val1062Met Polymorphism rs17182857 - MCM3AP O60318 VAR_019246 p.Arg1314Trp Polymorphism rs17176709 - MCM3AP O60318 VAR_019247 p.Asp1449Glu Polymorphism rs17183220 - MCM3AP O60318 VAR_019248 p.Val1576Ile Polymorphism rs17183248 - MCM3AP O60318 VAR_019249 p.Ala1795Thr Polymorphism rs17183290 - MCM3AP O60318 VAR_019250 p.Leu1870Arg Polymorphism rs17176933 - MCM3AP O60318 VAR_019251 p.Ala1941Val Polymorphism rs17183403 - MCM3AP O60318 VAR_035472 p.Leu409Val Unclassified - A colorectal cancer sample MCM3AP O60318 VAR_053973 p.Arg1831Cys Polymorphism rs2298697 - MCM3 P25205 VAR_014810 p.Ser105Gly Polymorphism rs2307332 - MCM3 P25205 VAR_014811 p.Asp280Val Polymorphism rs2307329 - MCM3 P25205 VAR_014812 p.Phe287Leu Polymorphism rs2307328 - MCM3 P25205 VAR_020427 p.Glu777Lys Polymorphism rs2230240 - MCM3 P25205 VAR_020516 p.Ile590Leu Polymorphism rs17240063 - MCM3 P25205 VAR_020517 p.Arg774Trp Polymorphism rs2230239 - MCM4 P33991 VAR_020500 p.Glu460Gly Polymorphism rs17287663 - MCM4 P33991 VAR_020501 p.Leu650Met Polymorphism rs762679 - MCM5 P33992 VAR_014813 p.Ser136Thr Polymorphism rs2307334 - MCM5 P33992 VAR_014814 p.Thr180Ser Polymorphism rs2307340 - MCM5 P33992 VAR_014815 p.Val258Ile Polymorphism rs2230933 - MCM6 Q14566 VAR_014816 p.Glu35Val Polymorphism rs3087355 - MCM6 Q14566 VAR_016340 p.Glu806Lys Polymorphism rs4988283 - MCM7 P33993 VAR_013297 p.Asn144Ser Polymorphism rs2070215 - MCM7 P33993 VAR_014817 p.Gly473Ser Polymorphism rs2307347 - MCM7 P33993 VAR_029243 p.Arg114Gln Polymorphism rs2307348 - MCM8 Q9UJA3 VAR_015145 p.Gln63Lys Polymorphism rs236110 - MCM8 Q9UJA3 VAR_050281 p.Lys101Asn Polymorphism rs6117014 - MCM8 Q9UJA3 VAR_050282 p.Asn183Ser Polymorphism rs16991591 - MCM8 Q9UJA3 VAR_050283 p.Glu341Lys Polymorphism rs16991615 - MCM8 Q9UJA3 VAR_050284 p.Ser365Asn Polymorphism rs28403619 - MCM8 Q9UJA3 VAR_050285 p.Asn785Ser Polymorphism rs16991638 - MCMDC2 Q4G0Z9 VAR_028861 p.Met137Lys Polymorphism rs16933088 - MCMDC2 Q4G0Z9 VAR_028862 p.Leu322Val Polymorphism rs17332410 - MCMDC2 Q4G0Z9 VAR_028863 p.Ser583Ala Polymorphism rs11778562 - MCOLN1 Q9GZU1 VAR_019369 p.Leu106Pro Disease - Mucolipidosis type IV (MLIV) [MIM:252650] MCOLN1 Q9GZU1 VAR_019370 p.Thr232Pro Disease - Mucolipidosis type IV (MLIV) [MIM:252650] MCOLN1 Q9GZU1 VAR_019371 p.Asp362Tyr Disease - Mucolipidosis type IV (MLIV) [MIM:252650] MCOLN1 Q9GZU1 VAR_019373 p.Val446Leu Disease - Mucolipidosis type IV (MLIV) [MIM:252650] MCOLN1 Q9GZU1 VAR_019374 p.Leu447Pro Disease - Mucolipidosis type IV (MLIV) [MIM:252650] MCOLN1 Q9GZU1 VAR_019375 p.Phe465Leu Disease - Mucolipidosis type IV (MLIV) [MIM:252650] MCOLN1 Q9GZU1 VAR_036453 p.Val331Leu Unclassified - A breast cancer sample MCOLN1 Q9GZU1 VAR_038380 p.Arg403Cys Disease - Mucolipidosis type IV (MLIV) [MIM:252650] MCOLN2 Q8IZK6 VAR_052394 p.Met365Val Polymorphism rs17117841 - MCOLN2 Q8IZK6 VAR_052395 p.Lys370Gln Polymorphism rs6704203 - MCPH1 Q8NEM0 VAR_046745 p.Thr27Arg Disease - Microcephaly primary type 1 (MCPH1) [MIM:251200] MCPH1 Q8NEM0 VAR_046746 p.Arg171Ser Polymorphism rs2442513 - MCPH1 Q8NEM0 VAR_046747 p.Ala212Thr Polymorphism rs2922828 - MCPH1 Q8NEM0 VAR_046748 p.Ile264Val Polymorphism rs34121009 - MCPH1 Q8NEM0 VAR_046749 p.Pro288His Polymorphism rs35590577 - MCPH1 Q8NEM0 VAR_046750 p.Arg304Ile Polymorphism rs2083914 - MCPH1 Q8NEM0 VAR_046751 p.Asp314His Polymorphism rs930557 - MCPH1 Q8NEM0 VAR_046752 p.Asp392Gly Polymorphism rs2515569 - MCPH1 Q8NEM0 VAR_046753 p.Ser580Gly Polymorphism rs17076894 - MCPH1 Q8NEM0 VAR_046754 p.Leu602Phe Polymorphism rs34418490 - MCPH1 Q8NEM0 VAR_046755 p.Thr682Asn Polymorphism rs12674488 - MCPH1 Q8NEM0 VAR_046756 p.Val761Ala Polymorphism rs1057090 - MCPH1 Q8NEM0 VAR_046757 p.Pro828Ser Polymorphism rs1057091 - MCRS1 Q96EZ8 VAR_035473 p.Val441Ile Unclassified - A colorectal cancer sample MCTP1 Q6DN14 VAR_033189 p.Arg612Lys Polymorphism rs9885412 - MCTP2 Q6DN12 VAR_033190 p.Ala877Thr Polymorphism rs34193492 - MCTS1 Q9ULC4 VAR_045632 p.Leu106His Polymorphism rs2233110 - MDC1 Q14676 VAR_022843 p.Glu251Lys Polymorphism rs2517560 - MDC1 Q14676 VAR_022844 p.Arg268Lys Polymorphism rs9262152 - MDC1 Q14676 VAR_022845 p.Glu371Lys Polymorphism rs2075015 - MDC1 Q14676 VAR_022846 p.Ser586Ala Polymorphism rs2844707 - MDC1 Q14676 VAR_022847 p.Glu1509Asp Polymorphism rs3132589 - MDC1 Q14676 VAR_022848 p.Ser1540Pro Polymorphism rs3130645 - MDC1 Q14676 VAR_043922 p.Ile536Met Polymorphism rs58344693 - MDC1 Q14676 VAR_043923 p.Gln1545Arg Polymorphism rs17292678 - MDC1 Q14676 VAR_051160 p.Arg179Cys Polymorphism rs28986464 - MDC1 Q14676 VAR_051161 p.Pro386Leu Polymorphism rs28986465 - MDC1 Q14676 VAR_051162 p.Arg917Ser Polymorphism rs28986467 - MDC1 Q14676 VAR_051163 p.Pro1100Ala Polymorphism rs28994869 - MDC1 Q14676 VAR_051164 p.Ser1112Phe Polymorphism rs28987085 - MDC1 Q14676 VAR_051165 p.Ser1180Pro Polymorphism rs9461623 - MDC1 Q14676 VAR_051166 p.Pro1745Arg Polymorphism rs28994871 - MDC1 Q14676 VAR_051167 p.Val1791Glu Polymorphism rs28994873 - MDC1 Q14676 VAR_051168 p.Asp1855Glu Polymorphism rs28994874 - MDC1 Q14676 VAR_051169 p.Arg1883Gln Polymorphism rs28994875 - MDC1 Q14676 VAR_051170 p.Arg1904Gln Polymorphism rs28994876 - MDGA1 Q8NFP4 VAR_047660 p.Leu61Pro Polymorphism rs10947690 - MDGA2 Q7Z553 VAR_059400 p.Val608Phe Polymorphism rs12590500 - MDH1B Q5I0G3 VAR_042861 p.Glu510Asp Polymorphism rs2287631 - MDH1B Q5I0G3 VAR_042862 p.Thr515Ala Polymorphism rs2287632 - MDH1B Q5I0G3 VAR_064729 p.Leu48Ile Unclassified - - MDH2 P40926 VAR_047787 p.Ala9Val Polymorphism rs17849553 - MDM1 Q8TC05 VAR_034782 p.Thr103Ile Polymorphism rs962976 - MDM1 Q8TC05 VAR_034783 p.Val383Ile Polymorphism rs17224810 - MDM1 Q8TC05 VAR_034784 p.Arg489His Polymorphism rs2306393 - MDM1 Q8TC05 VAR_034785 p.Pro552Leu Polymorphism rs2306392 - MDM4 O15151 VAR_017106 p.Ile175Thr Polymorphism rs4252716 - MDM4 O15151 VAR_017107 p.Thr406Ile Polymorphism rs4252741 - MDN1 Q9NU22 VAR_024234 p.Phe440Val Polymorphism rs4707569 - MDN1 Q9NU22 VAR_024235 p.Ser1559Asn Polymorphism rs4140446 - MDN1 Q9NU22 VAR_024236 p.Ala4044Ser Polymorphism rs9353689 - MDN1 Q9NU22 VAR_051171 p.Ile660Val Polymorphism rs12110451 - MDN1 Q9NU22 VAR_051172 p.Ala1044Val Polymorphism rs34764513 - MDN1 Q9NU22 VAR_051173 p.His1929Asp Polymorphism rs16882099 - MDN1 Q9NU22 VAR_051174 p.His2972Pro Polymorphism rs34208137 - MDN1 Q9NU22 VAR_051175 p.Glu3004Lys Polymorphism rs12530146 - MDN1 Q9NU22 VAR_051176 p.His3423Tyr Polymorphism rs9294445 - MDN1 Q9NU22 VAR_051177 p.Ala3794Gly Polymorphism rs34766278 - MDN1 Q9NU22 VAR_051178 p.Arg3986Leu Polymorphism rs17293121 - MDN1 Q9NU22 VAR_051179 p.Ala4167Thr Polymorphism rs35509794 - MDN1 Q9NU22 VAR_051180 p.Ile4720Thr Polymorphism rs16882046 - MDN1 Q9NU22 VAR_051181 p.Asp4783Glu Polymorphism rs36040566 - MDN1 Q9NU22 VAR_051182 p.Asn5251Lys Polymorphism rs4707557 - ME2 P23368 VAR_034104 p.Pro114Leu Polymorphism rs16952692 - ME2 P23368 VAR_050017 p.Gly450Glu Polymorphism rs649224 - ME3 Q16798 VAR_047369 p.Ser85Gly Polymorphism rs17856661 - ME3 Q16798 VAR_047370 p.Lys324Asn Polymorphism rs1042780 - MEA1 Q16626 VAR_058297 p.Ala183Asp Polymorphism rs11751058 - MECOM Q03112 VAR_061928 p.Gln107Arg Polymorphism rs34896995 - MECOM Q13465 VAR_051183 p.Pro120Ser Polymorphism rs7622799 - MECP2 P51608 VAR_010272 p.Arg106Trp Disease rs28934907 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010273 p.Arg133Cys Disease rs28934904 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010274 p.Phe155Ser Disease rs28934905 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010275 p.Thr158Met Disease rs28934906 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010276 p.Pro101Arg Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010277 p.Leu124Phe Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010278 p.Ser134Cys Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010279 p.Ala140Val Disease rs28934908 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_010280 p.Pro152Arg Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010281 p.Ala201Val Polymorphism - - MECP2 P51608 VAR_010282 p.Arg306Cys Disease rs28935468 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_010283 p.Glu397Lys Polymorphism rs56268439 - MECP2 P51608 VAR_017462 p.Leu100Val Disease rs28935168 Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_017463 p.Gly428Ser Unclassified - - MECP2 P51608 VAR_017581 p.Glu137Gly Disease - Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_018180 p.Glu10Gln Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018181 p.Ser86Cys Polymorphism - - MECP2 P51608 VAR_018182 p.Asp97Tyr Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018183 p.Pro101His Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018184 p.Pro101Leu Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018185 p.Pro101Thr Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018186 p.Arg106Gln Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018187 p.Arg111Gly Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018188 p.Gln128Pro Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018189 p.Arg133His Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018190 p.Lys135Glu Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018191 p.Asp156Gly Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018192 p.Arg167Trp Disease - Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_018193 p.Ala181Val Polymorphism - - MECP2 P51608 VAR_018194 p.Thr196Ser Polymorphism - - MECP2 P51608 VAR_018195 p.Thr197Met Polymorphism - - MECP2 P51608 VAR_018196 p.Thr203Met Polymorphism - - MECP2 P51608 VAR_018197 p.Lys210Ile Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018198 p.Pro225Arg Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018199 p.Thr228Ser Polymorphism - - MECP2 P51608 VAR_018200 p.Ser229Leu Polymorphism - - MECP2 P51608 VAR_018201 p.Gly232Ala Polymorphism - - MECP2 P51608 VAR_018202 p.Pro251Leu Polymorphism - - MECP2 P51608 VAR_018203 p.Lys284Glu Disease - Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_018204 p.Ala287Pro Polymorphism - - MECP2 P51608 VAR_018205 p.Ser291Ala Polymorphism - - MECP2 P51608 VAR_018206 p.Pro302Ala Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018207 p.Pro302His Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018208 p.Pro302Leu Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018209 p.Pro302Arg Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018210 p.Lys305Arg Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018211 p.Arg306His Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018212 p.Pro322Ala Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018213 p.Pro322Leu Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018214 p.Arg344Trp Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_018215 p.Ser359Pro Polymorphism - - MECP2 P51608 VAR_018216 p.Pro376Ser Unclassified - - MECP2 P51608 VAR_018218 p.Pro388Ser Unclassified - - MECP2 P51608 VAR_018219 p.Glu394Lys Polymorphism - - MECP2 P51608 VAR_018220 p.Pro399Leu Unclassified - - MECP2 P51608 VAR_018221 p.Pro402Leu Polymorphism - - MECP2 P51608 VAR_018222 p.Val412Ile Polymorphism - - MECP2 P51608 VAR_018223 p.Ala439Thr Polymorphism - - MECP2 P51608 VAR_018224 p.Ala444Thr Polymorphism - - MECP2 P51608 VAR_018225 p.Arg453Gln Disease - Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_018226 p.Pro480Ser Polymorphism - - MECP2 P51608 VAR_023552 p.Asp97Glu Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023553 p.Leu100Arg Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023554 p.Pro101Ser Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023555 p.Tyr120Asp Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023556 p.Phe155Ile Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023557 p.Thr158Ala Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023558 p.Gly161Val Disease - Rett syndrome (RTT) [MIM:312750] MECP2 P51608 VAR_023559 p.Pro388Leu Polymorphism - - MECP2 P51608 VAR_037664 p.Pro225Leu Disease - Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] MECP2 P51608 VAR_037665 p.Pro322Ser Disease - Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] MECR Q9BV79 VAR_027935 p.Phe96Leu Polymorphism rs1128400 - MECR Q9BV79 VAR_055486 p.Arg227Lys Polymorphism rs11544658 - MECR Q9BV79 VAR_055487 p.Arg258Leu Polymorphism rs34835902 - MED12L Q86YW9 VAR_037647 p.Gln401Pro Polymorphism rs17290219 - MED12L Q86YW9 VAR_037648 p.Glu464Lys Polymorphism rs3108728 - MED12L Q86YW9 VAR_037649 p.Gln903His Polymorphism rs2131100 - MED12L Q86YW9 VAR_037650 p.Arg1210Gln Polymorphism rs3732765 - MED12L Q86YW9 VAR_037651 p.Arg1698Gln Polymorphism rs2276761 - MED12 Q93074 VAR_033112 p.Arg961Trp Disease - Opitz-Kaveggia syndrome (OKS) [MIM:305450] MED12 Q93074 VAR_037534 p.Asn1007Ser Disease - Lujan-Fryns syndrome (LUJFRYS) [MIM:309520] MED12 Q93074 VAR_046672 p.Gln1392Arg Polymorphism rs1139013 - MED13L Q71F56 VAR_024024 p.Glu251Gly Disease rs28940309 Transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808] MED13L Q71F56 VAR_024025 p.Arg1872His Disease rs28940310 Transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808] MED13L Q71F56 VAR_024026 p.Asp2023Gly Disease - Transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808] MED13 Q9UHV7 VAR_057792 p.Ala1370Pro Polymorphism rs34805963 - MED13 Q9UHV7 VAR_057793 p.Ala1385Pro Polymorphism rs35996128 - MED14 O60244 VAR_036608 p.Phe1325Leu Unclassified - A breast cancer sample MED16 Q9Y2X0 VAR_053958 p.Leu770Phe Polymorphism rs34859566 - MED16 Q9Y2X0 VAR_053959 p.Glu874Lys Polymorphism rs13090 - MED17 Q9NVC6 VAR_057781 p.Phe357Leu Polymorphism rs35313315 - MED17 Q9NVC6 VAR_063126 p.Glu69Asp Polymorphism rs2848477 - MED17 Q9NVC6 VAR_065066 p.Leu371Pro Disease - Microcephaly postnatal progressive with seizures and brain atrophy (MCPHSBA) [MIM:613668] MED1 Q15648 VAR_034938 p.Ser1240Gly Polymorphism rs35668211 - MED1 Q15648 VAR_053955 p.Pro753Thr Polymorphism rs1139825 - MED24 O75448 VAR_053969 p.Ala204Thr Polymorphism rs34585432 - MED25 Q71SY5 VAR_063521 p.Ala335Val Disease - Charcot-Marie-Tooth disease type 2B2 (CMT2B2) [MIM:605589] MEDAG Q5VYS4 VAR_030261 p.Arg59Gly Polymorphism rs9531945 - MEF2A Q02078 VAR_038407 p.Asn263Ser Polymorphism - - MEF2A Q02078 VAR_038408 p.Pro279Leu Polymorphism - - MEF2A Q02078 VAR_038409 p.Gly283Asp Polymorphism - - MEF2D Q14814 VAR_022155 p.Pro434Ser Polymorphism rs2274315 - MEFV O15553 VAR_009051 p.Glu148Gln Disease rs3743930 Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_009051 p.Glu148Gln Disease rs3743930 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009052 p.Glu167Asp Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009053 p.Arg202Gln Polymorphism rs224222 - MEFV O15553 VAR_009054 p.Thr267Ile Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009055 p.Pro369Ser Disease rs11466023 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009056 p.Arg408Gln Disease rs11466024 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009057 p.Phe479Leu Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009059 p.Thr681Ile Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009061 p.Met694Ile Disease rs28940578 Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_009061 p.Met694Ile Disease rs28940578 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009062 p.Met694Val Disease - Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_009062 p.Met694Val Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009064 p.Lys695Arg Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009065 p.Val726Ala Disease rs28940579 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_009066 p.Ala744Ser Unclassified - - MEFV O15553 VAR_009067 p.Arg761His Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016824 p.Leu110Pro Disease rs11466018 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016825 p.Gly138Ala Unclassified - - MEFV O15553 VAR_016826 p.Glu230Lys Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016827 p.Ile591Thr Unclassified rs11466045 - MEFV O15553 VAR_016828 p.Arg653His Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016829 p.Ser675Asn Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_016830 p.Met680Leu Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_024376 p.Gln440Glu Polymorphism rs11466026 - MEFV O15553 VAR_028326 p.Arg42Trp Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028327 p.Ser108Arg Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028328 p.Glu148Val Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028329 p.Glu163Ala Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028330 p.Thr177Ile Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028331 p.Glu319Lys Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028332 p.Glu474Lys Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028333 p.His478Tyr Disease - Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_028334 p.Phe585Leu Polymorphism rs11466043 - MEFV O15553 VAR_028335 p.Gly632Ser Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028336 p.Ile640Met Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028337 p.Ile641Phe Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028338 p.Pro646Leu Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028339 p.Leu649Pro Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028340 p.Glu656Ala Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028341 p.Asp661Asn Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028342 p.Gly678Glu Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028343 p.Met680Ile Disease rs28940580 Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] MEFV O15553 VAR_028343 p.Met680Ile Disease rs28940580 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028344 p.Tyr688Cys Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028345 p.Met694Leu Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028346 p.Lys695Met Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028347 p.Ser702Cys Unclassified - - MEFV O15553 VAR_028348 p.Val704Ile Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028349 p.Pro705Ser Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028350 p.Ile720Met Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028351 p.Phe743Leu Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028352 p.Pro758Ser Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_028353 p.Pro780Thr Disease - Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] MEFV O15553 VAR_048398 p.Val33Leu Polymorphism rs11466016 - MEGF10 Q96KG7 VAR_036988 p.Val206Ile Polymorphism rs3812054 - MEGF10 Q96KG7 VAR_036989 p.Arg1072Lys Polymorphism rs17164935 - MEGF10 Q96KG7 VAR_046377 p.Pro897Leu Polymorphism rs13183625 - MEGF11 A6BM72 VAR_036990 p.His242Arg Polymorphism rs333550 - MEGF11 A6BM72 VAR_059261 p.Ser95Asn Polymorphism rs16949528 - MEGF11 A6BM72 VAR_059262 p.His317Arg Polymorphism rs333550 - MEGF11 A6BM72 VAR_059263 p.Leu474Pro Polymorphism rs35309197 - MEGF11 A6BM72 VAR_059264 p.Leu861Phe Polymorphism rs3803414 - MEGF11 A6BM72 VAR_059265 p.Ile988Thr Polymorphism rs2303374 - MEGF6 O75095 VAR_058361 p.Ser131Gly Polymorphism rs2794340 - MEGF6 O75095 VAR_058362 p.Arg916Leu Polymorphism rs7553399 - MEGF6 O75095 VAR_058363 p.Gly1137Ala Polymorphism rs4648506 - MEGF6 O75095 VAR_059258 p.Met115Thr Polymorphism rs7513275 - MEGF6 O75095 VAR_059259 p.Ala313Val Polymorphism rs11585362 - MEGF6 O75095 VAR_059260 p.Leu688Pro Polymorphism rs2821008 - MEGF6 O75095 VAR_061155 p.Pro587Leu Polymorphism rs947345 - MEGF6 O75095 VAR_061156 p.Arg1287His Polymorphism rs57804877 - MEGF6 O75095 VAR_061157 p.Gly1536Ser Polymorphism rs57484147 - MEI1 Q5TIA1 VAR_046037 p.Glu657Gln Polymorphism rs17002655 - MEI1 Q5TIA1 VAR_046038 p.Ser853Thr Polymorphism rs17002665 - MEI1 Q5TIA1 VAR_051184 p.Lys1049Glu Polymorphism rs12484839 - MEIG1 Q5JSS6 VAR_053979 p.Lys9Thr Polymorphism rs4750568 - MEIOB Q8N635 VAR_043620 p.Ile261Thr Polymorphism rs9806945 - MEIOB Q8N635 VAR_059624 p.Lys75Thr Polymorphism rs1657125 - MEIOB Q8N635 VAR_061619 p.Thr18Pro Polymorphism rs1742446 - MEIS1 O00470 VAR_063166 p.Arg272His Polymorphism rs61752693 - MELK Q14680 VAR_040794 p.Thr56Met Polymorphism rs35233455 - MELK Q14680 VAR_040795 p.Lys219Arg Polymorphism rs35142210 - MELK Q14680 VAR_040796 p.Arg333Lys Polymorphism rs34655121 - MELK Q14680 VAR_040797 p.Thr348Ile Polymorphism rs55845414 - MELK Q14680 VAR_040798 p.Thr460Met Unclassified - An ovarian mucinous carcinoma sample MEN1 O00255 VAR_005425 p.Pro12Leu Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005426 p.Leu22Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005427 p.Glu26Lys Disease rs28931612 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005428 p.Leu39Trp Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005429 p.Gly42Asp Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005430 p.Glu45Gly Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005432 p.His139Asp Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005433 p.His139Tyr Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005434 p.Lys135Ile Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005436 p.Phe144Val Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005437 p.Ala165Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005438 p.Ala169Asp Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005440 p.Arg176Gln Polymorphism rs607969 - MEN1 O00255 VAR_005441 p.Asp177Tyr Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005442 p.Ala181Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005443 p.Glu184Asp Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005444 p.Trp188Ser Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005445 p.Val189Glu Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1 O00255 VAR_005446 p.Leu228Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005447 p.Ala247Val Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005448 p.Glu260Lys Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1 O00255 VAR_005449 p.Leu269Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005450 p.Leu272Pro Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1 O00255 VAR_005451 p.Ala289Glu Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005452 p.Leu291Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005453 p.Ala314Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005454 p.Arg319Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005455 p.Ala342Asp Disease rs2071312 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005456 p.Trp346Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005457 p.Thr349Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005458 p.Glu364Lys Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005460 p.Ala373Asp Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005461 p.Asp423Asn Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005464 p.Trp441Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005465 p.Phe452Ser Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_005466 p.Thr546Ala Polymorphism rs2959656 - MEN1 O00255 VAR_005467 p.Ser560Asn Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_008017 p.Gly161Asp Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_008018 p.Cys246Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039587 p.Glu45Lys Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039588 p.Arg98Leu Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039589 p.Gly110Glu Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039590 p.His139Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039591 p.His139Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039592 p.Asp158Val Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1 O00255 VAR_039592 p.Asp158Val Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039593 p.Ser159Ile Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039594 p.Ser160Phe Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039595 p.Ala165Thr Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039596 p.Val167Phe Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039597 p.Cys170Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039598 p.Leu173Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039599 p.Glu184Lys Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039600 p.Glu184Gln Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039601 p.His186Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039602 p.Trp188Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039603 p.Val220Met Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039604 p.Gly230Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039605 p.Arg234Leu Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039606 p.Val245Phe Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039607 p.Cys246Phe Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039608 p.Cys246Tyr Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039609 p.Ser258Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039610 p.Ser258Trp Unclassified - Parathyroid tumor MEN1 O00255 VAR_039611 p.Leu264Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039612 p.Gln265Pro Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1 O00255 VAR_039614 p.Glu279Ala Unclassified - Parathyroid tumor MEN1 O00255 VAR_039615 p.Pro282His Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1 O00255 VAR_039616 p.Gly286Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039617 p.Ala289Pro Unclassified - Parathyroid tumor MEN1 O00255 VAR_039618 p.Gly310Asp Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1 O00255 VAR_039619 p.Thr316Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039620 p.His322Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039621 p.His322Tyr Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039622 p.Pro325Leu Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039623 p.Pro325Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039624 p.Ala330Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039625 p.Ala342Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039626 p.Ala347Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039627 p.Ile353Asn Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039628 p.Tyr358Asp Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039629 p.Arg360Trp Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039630 p.Asp362His Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039631 p.Ile377Met Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039632 p.Pro378Ser Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039633 p.Ala390Val Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039634 p.Ala416Pro Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1 O00255 VAR_039634 p.Ala416Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039635 p.Leu419Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039636 p.Arg420Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039637 p.Asp423His Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039638 p.Cys426Tyr Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039639 p.Trp428Ser Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039640 p.Ser432Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039641 p.Trp441Cys Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039642 p.Leu449Pro Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039643 p.Arg532Cys Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039644 p.Pro545Ser Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039645 p.Pro549Ser Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_039646 p.Thr557Ser Unclassified - - MEN1 O00255 VAR_039647 p.Ser560Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_064937 p.Val220Phe Unclassified - - MEN1 O00255 VAR_065153 p.Ile147Phe Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_065154 p.Leu157Trp Unclassified - Parathyroid tumors MEN1 O00255 VAR_065155 p.Leu418Arg Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEN1 O00255 VAR_065156 p.Trp476Cys Disease - Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] MEOX1 P50221 VAR_049584 p.Ser27Leu Polymorphism rs9898682 - MEOX2 P50222 VAR_049585 p.Ile287Leu Polymorphism rs2237493 - MEP1A Q16819 VAR_020056 p.Val469Leu Polymorphism rs2274658 - MEP1A Q16819 VAR_021846 p.Met634Val Polymorphism rs2297019 - MEP1A Q16819 VAR_033492 p.Arg476Gly Polymorphism rs12197930 - MEP1A Q16819 VAR_033493 p.Thr726Met Polymorphism rs1804211 - MEP1A Q16819 VAR_051583 p.Thr606Ser Polymorphism rs2297020 - MEP1B Q16820 VAR_057064 p.Val326Met Polymorphism rs9959396 - MEP1B Q16820 VAR_057065 p.Pro695Leu Polymorphism rs616114 - MEPE Q9NQ76 VAR_034094 p.Val330Ile Polymorphism rs17013285 - MERTK Q12866 VAR_020285 p.Arg865Trp Polymorphism rs2230516 - MERTK Q12866 VAR_021039 p.Arg20Ser Polymorphism rs35898499 - MERTK Q12866 VAR_021040 p.Ser118Asn Polymorphism rs13027171 - MERTK Q12866 VAR_021041 p.Ala282Thr Polymorphism rs7588635 - MERTK Q12866 VAR_021042 p.Arg293His Polymorphism rs34072093 - MERTK Q12866 VAR_021043 p.Arg466Lys Polymorphism rs7604639 - MERTK Q12866 VAR_021044 p.Asn498Ser Polymorphism rs35858762 - MERTK Q12866 VAR_021045 p.Ile518Val Polymorphism rs2230515 - MERTK Q12866 VAR_021046 p.Glu540Lys Disease - Retinitis pigmentosa type 38 (RP38) [MIM:613862] MERTK Q12866 VAR_021047 p.Ser661Cys Disease - Retinitis pigmentosa type 38 (RP38) [MIM:613862] MERTK Q12866 VAR_021048 p.Ile871Thr Disease - Retinitis pigmentosa type 38 (RP38) [MIM:613862] MERTK Q12866 VAR_021049 p.Ile871Val Polymorphism - - MERTK Q12866 VAR_029237 p.Val870Ile Polymorphism rs2230517 - MERTK Q12866 VAR_041741 p.Val185Met Polymorphism rs56205303 - MERTK Q12866 VAR_041742 p.Glu289Lys Polymorphism - - MERTK Q12866 VAR_041743 p.Ala446Gly Unclassified - A renal clear cell carcinoma sample MERTK Q12866 VAR_041744 p.Val452Leu Polymorphism rs34010621 - MERTK Q12866 VAR_041745 p.Gln662Glu Polymorphism rs56209758 - MERTK Q12866 VAR_041746 p.Ala708Ser Unclassified - A head & Neck squamous cell carcinoma sample MERTK Q12866 VAR_041747 p.Glu823Gln Polymorphism rs55924349 - MERTK Q12866 VAR_051698 p.Asn329Ser Polymorphism rs34943572 - MESP1 Q9BRJ9 VAR_035021 p.Ala53Pro Polymorphism rs6496598 - MESP2 Q0VG99 VAR_046779 p.Ala66Gly Polymorphism - - MESP2 Q0VG99 VAR_046780 p.Leu125Val Unclassified - - MESP2 Q0VG99 VAR_046781 p.Ser224Phe Polymorphism - - MESP2 Q0VG99 VAR_061257 p.Val138Met Polymorphism rs28462216 - METAP1D Q6UB28 VAR_050273 p.Gly14Val Polymorphism rs10497377 - MET P08581 VAR_006285 p.Ala320Val Polymorphism rs35776110 - MET P08581 VAR_006286 p.Met1131Thr Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006287 p.Val1188Leu Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006288 p.Leu1195Val Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006289 p.Val1220Ile Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006290 p.Asp1228Asn Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006291 p.Asp1228His Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006292 p.Tyr1230Cys Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006293 p.Tyr1230His Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_006294 p.Met1250Thr Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032478 p.Leu238Ser Polymorphism rs34349517 - MET P08581 VAR_032479 p.Ile316Met Polymorphism rs35225896 - MET P08581 VAR_032480 p.Asn375Ser Polymorphism rs33917957 - MET P08581 VAR_032481 p.Pro773Leu Disease - Gastric cancer MET P08581 VAR_032482 p.Arg970Cys Polymorphism rs34589476 - MET P08581 VAR_032483 p.Pro991Ser Disease - Gastric cancer MET P08581 VAR_032484 p.Thr992Ile Polymorphism rs56391007 - MET P08581 VAR_032485 p.Val1092Ile Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032486 p.His1094Leu Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032487 p.His1094Arg Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032488 p.His1094Tyr Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032489 p.His1106Asp Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032490 p.Thr1173Ile Disease - Hepatocellular carcinoma (HCC) [MIM:114550] MET P08581 VAR_032491 p.Tyr1230Asp Disease - Renal cell carcinoma papillary (RCCP) [MIM:605074] MET P08581 VAR_032492 p.Lys1244Arg Disease - Hepatocellular carcinoma (HCC) [MIM:114550] MET P08581 VAR_032493 p.Met1250Ile Disease - Hepatocellular carcinoma (HCC) [MIM:114550] MET P08581 VAR_041738 p.Arg143Gln Polymorphism rs35469582 - MET P08581 VAR_041739 p.Ser156Leu Polymorphism rs56311081 - MET P08581 VAR_041740 p.Glu168Asp Polymorphism rs55985569 - MET P08581 VAR_064855 p.His150Tyr Unclassified - - MET P08581 VAR_064856 p.Cys385Tyr Unclassified - - MET P08581 VAR_064857 p.Val1294Ile Unclassified - - METTL10 Q5JPI9 VAR_050295 p.Arg67Gln Polymorphism rs4347339 - METTL11B Q5VVY1 VAR_029859 p.Ser150Pro Polymorphism rs6427235 - METTL11B Q5VVY1 VAR_060621 p.Ala72Gly Polymorphism rs12073565 - METTL11B Q5VVY1 VAR_060622 p.Ser247Arg Polymorphism rs12735494 - METTL12 A8MUP2 VAR_046283 p.Gly125Ser Polymorphism rs11231181 - METTL13 Q8N6R0 VAR_034040 p.Met105Val Polymorphism rs2232816 - METTL13 Q8N6R0 VAR_034041 p.Met359Ile Polymorphism rs2232819 - METTL13 Q8N6R0 VAR_064730 p.Tyr16Cys Unclassified - - METTL15 A6NJ78 VAR_036801 p.Asn31Lys Polymorphism rs2883478 - METTL15 A6NJ78 VAR_036802 p.Ala149Thr Polymorphism rs11823114 - METTL15 A6NJ78 VAR_059446 p.Ile267Phe Polymorphism rs11030280 - METTL16 Q86W50 VAR_037086 p.Ser479Asn Polymorphism rs17834783 - METTL17 Q9H7H0 VAR_037422 p.Gly289Ala Polymorphism rs2297717 - METTL17 Q9H7H0 VAR_037423 p.Ala346Pro Polymorphism rs2771350 - METTL18 O95568 VAR_027087 p.Glu10Asp Polymorphism rs10489177 - METTL18 O95568 VAR_027088 p.Ala325Val Polymorphism rs16862686 - METTL18 O95568 VAR_027089 p.Lys360Met Polymorphism rs13375701 - METTL18 O95568 VAR_054050 p.Phe309Leu Polymorphism rs34396097 - METTL18 O95568 VAR_054051 p.Arg318His Polymorphism rs35984232 - METTL21A Q8WXB1 VAR_032935 p.Thr192Ile Polymorphism rs2551949 - METTL21B Q96AZ1 VAR_032869 p.Ser28Leu Polymorphism rs34913183 - METTL21C Q5VZV1 VAR_039013 p.Asn46Ser Polymorphism rs16960383 - METTL21C Q5VZV1 VAR_062229 p.Gly15Arg Polymorphism rs45462291 - METTL21D Q9H867 VAR_059621 p.Ala63Asp Polymorphism rs11157729 - METTL22 Q9BUU2 VAR_032134 p.Trp59Ser Polymorphism rs2270286 - METTL22 Q9BUU2 VAR_032135 p.Ala219Thr Polymorphism rs2302607 - METTL22 Q9BUU2 VAR_059623 p.Ala366Thr Polymorphism rs1731000 - METTL22 Q9BUU2 VAR_061617 p.Glu375Lys Polymorphism rs55747257 - METTL23 Q86XA0 VAR_039343 p.Leu141Val Polymorphism rs12602772 - METTL24 Q5JXM2 VAR_044502 p.Leu281Phe Polymorphism rs2334321 - METTL25 Q8N6Q8 VAR_027779 p.Gln249Lys Polymorphism rs4296098 - METTL2B Q6P1Q9 VAR_042547 p.Cys124Arg Polymorphism rs2896399 - METTL2B Q6P1Q9 VAR_042548 p.Asn129His Polymorphism rs2023329 - METTL2B Q6P1Q9 VAR_042549 p.Glu169Lys Polymorphism rs1065267 - METTL2B Q6P1Q9 VAR_042550 p.Val266Ile Polymorphism rs2562741 - METTL2B Q6P1Q9 VAR_059465 p.Val68Ile Polymorphism rs2288557 - METTL4 Q8N3J2 VAR_027670 p.Leu163Phe Polymorphism rs12606220 - METTL4 Q8N3J2 VAR_027671 p.Gln310Lys Polymorphism rs2677879 - METTL4 Q8N3J2 VAR_027672 p.Val468Leu Polymorphism rs8084295 - METTL4 Q8N3J2 VAR_056159 p.Glu230Asp Polymorphism rs34143130 - METTL4 Q8N3J2 VAR_064731 p.Ser42Phe Unclassified - - METTL5 Q9NRN9 VAR_051507 p.Val202Gly Polymorphism rs1051387 - METTL7A Q9H8H3 VAR_050296 p.Ala134Thr Polymorphism rs28372674 - MEX3C Q5U5Q3 VAR_030832 p.Thr412Pro Polymorphism rs12970605 - MFAP5 Q13361 VAR_036430 p.Val61Asp Unclassified - A breast cancer sample MFF Q9GZY8 VAR_036028 p.Glu29Lys Unclassified - A colorectal cancer sample MFF Q9GZY8 VAR_053915 p.Ser7Cys Polymorphism rs3211097 - MFF Q9GZY8 VAR_053916 p.Ser7Ile Polymorphism rs3211098 - MFGE8 Q08431 VAR_024263 p.Met76Leu Polymorphism rs1878326 - MFGE8 Q08431 VAR_029794 p.Arg3Ser Polymorphism rs4945 - MFHAS1 Q9Y4C4 VAR_036846 p.Leu163Val Polymorphism rs34984230 - MFHAS1 Q9Y4C4 VAR_036847 p.Leu892Pro Polymorphism rs429433 - MFI2 P08582 VAR_020413 p.Arg294Trp Polymorphism rs2276790 - MFI2 P08582 VAR_057304 p.Ala559Thr Polymorphism rs17129219 - MFN1 Q8IWA4 VAR_018606 p.Pro523Arg Polymorphism rs7637065 - MFN1 Q8IWA4 VAR_036115 p.Asp415His Unclassified - A colorectal cancer sample MFN2 O95140 VAR_018607 p.Val69Phe Disease rs28940296 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] MFN2 O95140 VAR_018608 p.Leu76Pro Disease rs28940293 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] MFN2 O95140 VAR_018609 p.Arg94Gln Disease rs28940291 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] MFN2 O95140 VAR_018610 p.Pro251Ala Disease rs28940295 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] MFN2 O95140 VAR_018611 p.Arg280His Disease rs28940294 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] MFN2 O95140 VAR_018612 p.Trp740Ser Disease rs28940292 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] MFN2 O95140 VAR_022464 p.Lys357Asn Disease - Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] MFN2 O95140 VAR_029876 p.Arg94Trp Disease - Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] MFN2 O95140 VAR_029877 p.Thr206Ile Disease - Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] MFN2 O95140 VAR_029878 p.Gln276Arg Disease - Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] MFN2 O95140 VAR_029879 p.His361Tyr Disease - Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] MFN2 O95140 VAR_029880 p.Arg364Trp Disease - Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] MFN2 O95140 VAR_029880 p.Arg364Trp Disease - Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] MFNG O00587 VAR_024467 p.Arg302Cys Polymorphism rs8192548 - MFRP Q9BY79 VAR_025691 p.Arg54Gly Polymorphism - - MFRP Q9BY79 VAR_025692 p.Ile119Val Polymorphism rs4639950 - MFRP Q9BY79 VAR_025693 p.Val136Met Polymorphism rs3814762 - MFRP Q9BY79 VAR_025694 p.Ile182Thr Disease - Nanophthalmos 2 (NNO2) [MIM:609549] MFRP Q9BY79 VAR_025695 p.Gly449Ser Polymorphism - - MFRP Q9BY79 VAR_025696 p.Gln514His Polymorphism - - MFSD11 O43934 VAR_035151 p.Ser428Phe Polymorphism rs3198672 - MFSD12 Q6NUT3 VAR_030309 p.Tyr182His Polymorphism rs2240751 - MFSD12 Q6NUT3 VAR_030310 p.Arg243His Polymorphism rs10414812 - MFSD12 Q6NUT3 VAR_030311 p.Arg476Cys Polymorphism rs7252640 - MFSD12 Q6NUT3 VAR_050300 p.Ile203Val Polymorphism rs34562175 - MFSD12 Q6NUT3 VAR_050301 p.Gly395Ser Polymorphism rs34878396 - MFSD1 Q9H3U5 VAR_030138 p.Pro24Ser Polymorphism rs28364680 - MFSD1 Q9H3U5 VAR_030139 p.Lys168Glu Polymorphism rs17854200 - MFSD1 Q9H3U5 VAR_030140 p.Ile220Val Polymorphism rs3765083 - MFSD1 Q9H3U5 VAR_059466 p.Ile271Thr Polymorphism rs11551240 - MFSD3 Q96ES6 VAR_030141 p.Gly292Arg Polymorphism rs2306387 - MFSD4 Q8N468 VAR_030142 p.Leu228Ile Polymorphism rs17857119 - MFSD4 Q8N468 VAR_030143 p.Gly314Ala Polymorphism rs7526132 - MFSD6L Q8IWD5 VAR_039389 p.Arg486His Polymorphism rs2242373 - MFSD6 Q6ZSS7 VAR_039388 p.Arg205Gly Polymorphism rs9646748 - MFSD7 Q6UXD7 VAR_030144 p.Ser170Pro Polymorphism rs11558585 - MFSD8 Q8NHS3 VAR_037176 p.Val109Gly Polymorphism rs11732377 - MFSD8 Q8NHS3 VAR_037177 p.Gly310Asp Disease - Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_037178 p.Gly385Arg Polymorphism rs11098943 - MFSD8 Q8NHS3 VAR_037179 p.Ala423Val Polymorphism rs3733319 - MFSD8 Q8NHS3 VAR_037180 p.Gly429Asp Disease - Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058427 p.Gly52Arg Disease - Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058428 p.Tyr121Cys Disease - Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058429 p.Arg139His Disease - Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058430 p.Ala157Pro Disease - Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058431 p.Thr294Lys Disease - Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058432 p.Pro447Leu Disease - Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] MFSD8 Q8NHS3 VAR_058433 p.Arg465Trp Disease - Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] MFSD9 Q8NBP5 VAR_035152 p.Ala129Ser Polymorphism rs7601509 - MFSD9 Q8NBP5 VAR_035153 p.Ile288Thr Polymorphism rs33993717 - MFSD9 Q8NBP5 VAR_035966 p.Gly59Ala Unclassified - A breast cancer sample MFSD9 Q8NBP5 VAR_035967 p.Val84Ala Unclassified - A breast cancer sample MFSD9 Q8NBP5 VAR_061383 p.Ala376Thr Polymorphism rs34096572 - MGAM O43451 VAR_047350 p.Gln404His Polymorphism rs2272330 - MGAM O43451 VAR_047351 p.Ser542Leu Polymorphism rs10266732 - MGAM O43451 VAR_047352 p.Asn858Asp Polymorphism rs2960746 - MGAM O43451 VAR_047353 p.Leu1638Ile Polymorphism rs9655651 - MGA Q8IWI9 VAR_044341 p.Thr338Ala Polymorphism rs3803348 - MGA Q8IWI9 VAR_044342 p.Ser716Thr Polymorphism rs2178004 - MGA Q8IWI9 VAR_044343 p.Cys1270Arg Polymorphism rs17677811 - MGA Q8IWI9 VAR_057268 p.Pro1523Ala Polymorphism rs17677991 - MGARP Q8TDB4 VAR_051256 p.Ala128Thr Polymorphism rs3208941 - MGAT1 P26572 VAR_028272 p.Arg223Gln Polymorphism rs7726005 - MGAT1 P26572 VAR_028273 p.Leu435Pro Polymorphism rs634501 - MGAT2 Q10469 VAR_003415 p.His262Arg Disease - Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066] MGAT2 Q10469 VAR_003416 p.Ser290Phe Disease - Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066] MGAT2 Q10469 VAR_012343 p.Asn318Asp Disease - Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066] MGAT4B Q9UQ53 VAR_032446 p.Leu491Phe Polymorphism rs17854722 - MGAT4B Q9UQ53 VAR_053913 p.Gln257His Polymorphism rs190631 - MGAT4C Q9UBM8 VAR_032447 p.Thr428Ser Polymorphism rs17855890 - MGAT5B Q3V5L5 VAR_032452 p.Val70Ile Polymorphism rs571264 - MGEA5 O60502 VAR_027761 p.Gly46Glu Polymorphism rs3740421 - MGEA5 O60502 VAR_027762 p.Glu602Lys Polymorphism rs17853930 - MGME1 Q9BQP7 VAR_033758 p.Ser15Cys Polymorphism rs11551768 - MGMT P16455 VAR_014750 p.Glu30Lys Polymorphism rs2020893 - MGMT P16455 VAR_014751 p.Leu84Phe Polymorphism rs12917 - MGMT P16455 VAR_014752 p.Ile143Val Polymorphism rs2308321 - MGMT P16455 VAR_014753 p.Gly160Arg Polymorphism rs2308318 - MGMT P16455 VAR_014754 p.Glu166Asp Polymorphism rs2308320 - MGMT P16455 VAR_014755 p.Lys178Arg Polymorphism rs2308327 - MGMT P16455 VAR_020354 p.Trp65Cys Polymorphism rs2282164 - MGMT P16455 VAR_029112 p.Pro58Ser Polymorphism rs2308322 - MGMT P16455 VAR_056129 p.Leu53Phe Polymorphism rs12917 - MGMT P16455 VAR_056130 p.Ile112Val Polymorphism rs2308321 - MGP P08493 VAR_016177 p.Lys53Glu Polymorphism rs1801716 - MGP P08493 VAR_016178 p.Thr102Ala Polymorphism rs4236 - MGST2 Q99735 VAR_019997 p.Ala101Val Polymorphism rs8192111 - MGST3 O14880 VAR_012061 p.Gly15Cys Polymorphism rs1802087 - MGST3 O14880 VAR_012062 p.Pro48Ser Polymorphism rs1802088 - MIA2 Q96PC5 VAR_036460 p.Asp437His Unclassified - A breast cancer sample MIA3 Q5JRA6 VAR_032546 p.Lys482Glu Polymorphism rs2936053 - MIA3 Q5JRA6 VAR_032547 p.Lys605Arg Polymorphism rs2936052 - MIA3 Q5JRA6 VAR_032548 p.Glu881Gly Polymorphism rs2936051 - MIA3 Q5JRA6 VAR_032549 p.Gly1659Cys Polymorphism rs17857325 - MIA3 Q5JRA6 VAR_032550 p.Lys1723Glu Polymorphism rs17854428 - MIB2 Q96AX9 VAR_046668 p.Phe15Leu Polymorphism rs7418389 - MIB2 Q96AX9 VAR_046669 p.Met45Thr Polymorphism rs12755088 - MICAL1 Q8TDZ2 VAR_017903 p.Ala758Glu Polymorphism rs9320288 - MICAL1 Q8TDZ2 VAR_036191 p.Leu309Met Unclassified - A breast cancer sample MICAL1 Q8TDZ2 VAR_050153 p.Ala12Thr Polymorphism rs4946977 - MICAL1 Q8TDZ2 VAR_050154 p.Asp153Ala Polymorphism rs34726911 - MICAL1 Q8TDZ2 VAR_061355 p.Ala758Thr Polymorphism rs59056467 - MICAL2 O94851 VAR_020257 p.Arg1089Gln Polymorphism rs2270515 - MICAL2 O94851 VAR_021992 p.Ile220Val Polymorphism rs2306727 - MICAL2 O94851 VAR_024523 p.Leu1106Pro Polymorphism rs1027335 - MICAL2 O94851 VAR_050155 p.Phe145Leu Polymorphism rs2706656 - MICAL2 O94851 VAR_050156 p.Asp687Glu Polymorphism rs3794084 - MICAL2 O94851 VAR_050157 p.Pro1110Ser Polymorphism rs35518829 - MICAL3 Q7RTP6 VAR_018263 p.Met750Leu Polymorphism rs5992128 - MICAL3 Q7RTP6 VAR_059451 p.Pro11Ala Polymorphism rs11913706 - MICAL3 Q7RTP6 VAR_059452 p.Arg745Gln Polymorphism rs2289719 - MICALCL Q6ZW33 VAR_056936 p.Val70Ile Polymorphism rs10741578 - MICALCL Q6ZW33 VAR_056937 p.Tyr93Ser Polymorphism rs12574273 - MICALCL Q6ZW33 VAR_056938 p.Ala305Thr Polymorphism rs1493953 - MICALCL Q6ZW33 VAR_056939 p.Ser313Gly Polymorphism rs1493954 - MICALCL Q6ZW33 VAR_056940 p.Asp369Glu Polymorphism rs3812753 - MICALCL Q6ZW33 VAR_061684 p.Thr471Pro Polymorphism rs3812754 - MICALL1 Q8N3F8 VAR_018262 p.Ala519Ser Polymorphism rs9610875 - MICALL1 Q8N3F8 VAR_020258 p.Pro583Leu Polymorphism rs2272829 - MICALL1 Q8N3F8 VAR_036192 p.Glu817Lys Unclassified - A breast cancer sample MICALL1 Q8N3F8 VAR_050158 p.His685Arg Polymorphism rs34834842 - MICALL2 Q8IY33 VAR_034071 p.Ala480Pro Polymorphism rs12540098 - MICALL2 Q8IY33 VAR_034072 p.Pro519Leu Polymorphism rs4075307 - MICALL2 Q8IY33 VAR_050159 p.Leu711Val Polymorphism rs11980797 - MICALL2 Q8IY33 VAR_061356 p.Lys623Arg Polymorphism rs61287564 - MICA Q29983 VAR_043625 p.Arg29Pro Polymorphism rs9380254 - MICA Q29983 VAR_043626 p.Trp37Gly Polymorphism rs1063630 - MICA Q29983 VAR_043627 p.Thr47Ala Polymorphism rs1051785 - MICA Q29983 VAR_043628 p.Val49Gly Polymorphism rs17200158 - MICA Q29983 VAR_043629 p.Cys59Tyr Polymorphism rs1051786 - MICA Q29983 VAR_043630 p.Gln114Arg Polymorphism rs41558312 - MICA Q29983 VAR_043631 p.Arg128Lys Polymorphism rs41557113 - MICA Q29983 VAR_043632 p.Gly137Arg Polymorphism rs41556715 - MICA Q29983 VAR_043633 p.Leu145Val Polymorphism rs1051790 - MICA Q29983 VAR_043634 p.Thr147Ser Polymorphism rs41539919 - MICA Q29983 VAR_043635 p.Lys148Glu Polymorphism rs1051791 - MICA Q29983 VAR_043636 p.Met152Val Polymorphism rs1051792 - MICA Q29983 VAR_043637 p.Val165Ile Polymorphism rs3819269 - MICA Q29983 VAR_043638 p.Met174Val Polymorphism rs41560824 - MICA Q29983 VAR_043639 p.His179Leu Polymorphism rs3819268 - MICA Q29983 VAR_043640 p.Lys196Glu Polymorphism rs1051794 - MICA Q29983 VAR_043641 p.Gly198Ser Polymorphism rs1131896 - MICA Q29983 VAR_043642 p.Val199Ile Polymorphism rs41549718 - MICA Q29983 VAR_043643 p.Thr204Arg Polymorphism rs1131897 - MICA Q29983 VAR_043644 p.Gly229Ser Polymorphism rs1131898 - MICA Q29983 VAR_043645 p.Tyr231Cys Polymorphism rs41546915 - MICA Q29983 VAR_043646 p.Trp233Arg Polymorphism rs1051798 - MICA Q29983 VAR_043647 p.Thr236Ile Polymorphism rs1140700 - MICA Q29983 VAR_043648 p.Ser238Thr Polymorphism rs1051799 - MICA Q29983 VAR_043649 p.Val244Leu Polymorphism rs41540613 - MICA Q29983 VAR_043650 p.Gln274Arg Polymorphism rs1063635 - MICA Q29983 VAR_043651 p.Arg279Ser Polymorphism rs41557614 - MICA Q29983 VAR_043652 p.Ser291Gly Polymorphism - - MICA Q29983 VAR_043653 p.Pro294Ala Polymorphism rs41553616 - MICA Q29983 VAR_043662 p.Val328Ile Polymorphism - - MICA Q29983 VAR_043663 p.Arg329Cys Polymorphism rs41554412 - MICA Q29983 VAR_043664 p.Thr356Met Polymorphism - - MICA Q29983 VAR_043665 p.Asp373Ala Polymorphism - - MICA Q29983 VAR_043666 p.Thr377Ala Polymorphism - - MICA Q29983 VAR_043667 p.Ala383Thr Polymorphism - - MICA Q29983 VAR_043869 p.Trp253Ser Polymorphism - - MICB Q29980 VAR_044068 p.Glu39Gly Polymorphism rs45578846 - MICB Q29980 VAR_044069 p.Pro68His Polymorphism rs45583740 - MICB Q29980 VAR_044070 p.Asp75Asn Polymorphism rs3131639 - MICB Q29980 VAR_044071 p.Lys80Glu Polymorphism rs1065075 - MICB Q29980 VAR_044072 p.Asp88Gly Polymorphism rs45486091 - MICB Q29980 VAR_044073 p.Asp105Gly Polymorphism rs45502297 - MICB Q29980 VAR_044074 p.Ile121Met Polymorphism rs3134900 - MICB Q29980 VAR_044075 p.Asp136Asn Polymorphism rs1051788 - MICB Q29980 VAR_044076 p.Thr212Ile Polymorphism rs41293883 - MICB Q29980 VAR_044077 p.Glu215Lys Polymorphism rs45624537 - MICB Q29980 VAR_044078 p.Arg279Lys Polymorphism rs45587032 - MICB Q29980 VAR_044079 p.Gly291Ser Polymorphism rs41273040 - MICB Q29980 VAR_044080 p.Val300Ala Polymorphism rs45470602 - MICB Q29980 VAR_044081 p.Ala383Thr Polymorphism rs1065076 - MICB Q29980 VAR_059527 p.Asp136His Polymorphism rs1051788 - MID1 O15344 VAR_013758 p.Cys266Arg Disease - Opitz GBBB syndrome 1 (OGS1) [MIM:300000] MID1 O15344 VAR_013761 p.Ile536Thr Disease - Opitz GBBB syndrome 1 (OGS1) [MIM:300000] MID1 O15344 VAR_013762 p.Leu626Pro Disease rs28934611 Opitz GBBB syndrome 1 (OGS1) [MIM:300000] MID1 O15344 VAR_025495 p.Leu295Pro Disease - Opitz GBBB syndrome 1 (OGS1) [MIM:300000] MID2 Q9UJV3 VAR_052123 p.Ala378Asp Polymorphism rs12849510 - MIER2 Q8N344 VAR_037695 p.Asp68Asn Polymorphism rs7507468 - MIER2 Q8N344 VAR_037696 p.Asp104Asn Polymorphism rs10421231 - MIER2 Q8N344 VAR_037697 p.Pro464Ser Polymorphism rs34129568 - MIER2 Q8N344 VAR_037698 p.Ser485Gly Polymorphism rs35042658 - MIER3 Q7Z3K6 VAR_037699 p.Asp126Gly Polymorphism rs17854108 - MIER3 Q7Z3K6 VAR_037700 p.Asn414Lys Polymorphism rs13177917 - MIER3 Q7Z3K6 VAR_037701 p.Asn432Asp Polymorphism rs13181823 - MIER3 Q7Z3K6 VAR_037702 p.Asn530Ser Polymorphism rs36017815 - MIIP Q5JXC2 VAR_039729 p.Lys99Asn Polymorphism rs11553925 - MIIP Q5JXC2 VAR_039730 p.Pro142Ser Polymorphism rs11588712 - MIIP Q5JXC2 VAR_039731 p.Lys167Glu Polymorphism rs2295283 - MIIP Q5JXC2 VAR_059688 p.Arg247Trp Polymorphism rs2295289 - MIIP Q5JXC2 VAR_059689 p.Ser288Leu Polymorphism rs35317667 - MIIP Q5JXC2 VAR_059690 p.Pro381Ser Polymorphism rs34874602 - MINA Q8IUF8 VAR_036811 p.Ala386Thr Polymorphism rs2172257 - MINA Q8IUF8 VAR_054079 p.Ala17Pro Polymorphism rs35391656 - MINA Q8IUF8 VAR_062241 p.Pro201Leu Polymorphism rs56183666 - MINK1 Q8N4C8 VAR_040799 p.Ala514Thr Polymorphism rs56131206 - MINK1 Q8N4C8 VAR_040800 p.Ile1200Val Polymorphism - - MINK1 Q8N4C8 VAR_046058 p.Val771Ala Polymorphism rs11556634 - MINK1 Q8N4C8 VAR_046059 p.Pro775Leu Polymorphism rs11556635 - MINK1 Q8N4C8 VAR_046060 p.Val863Ile Polymorphism rs2302319 - MINK1 Q8N4C8 VAR_046061 p.Glu1010Val Unclassified - A gastric adenocarcinoma sample MINPP1 Q9UNW1 VAR_022836 p.Ser41Leu Unclassified - A follicular thyroid carcinoma MINPP1 Q9UNW1 VAR_022837 p.Gln270Arg Unclassified - - MIPEP Q99797 VAR_038934 p.Ala137Val Polymorphism rs2312296 - MIPEP Q99797 VAR_038935 p.Arg340Gln Polymorphism rs11551114 - MIPEP Q99797 VAR_038936 p.Arg453His Polymorphism rs12858248 - MIPEP Q99797 VAR_038937 p.Ser488Gly Polymorphism rs7333040 - MIPOL1 Q8TD10 VAR_034095 p.Gln141Leu Polymorphism rs35870036 - MIP P30301 VAR_011497 p.Glu134Gly Disease - Cataract autosomal dominant (ADC) [MIM:604219] MIP P30301 VAR_011498 p.Thr138Arg Disease - Cataract autosomal dominant (ADC) [MIM:604219] MIR7-3HG Q8N6C7 VAR_030681 p.Arg73Ser Polymorphism rs11878617 - MIR7-3HG Q8N6C7 VAR_030682 p.His91Gln Polymorphism rs3760955 - MIS12 Q9H081 VAR_034106 p.Met21Val Polymorphism rs16954781 - MIS18BP1 Q6P0N0 VAR_050184 p.Cys164Arg Polymorphism rs1269008 - MIS18BP1 Q6P0N0 VAR_050185 p.Pro347Arg Polymorphism rs34168608 - MIS18BP1 Q6P0N0 VAR_050186 p.Glu583Asp Polymorphism rs34101857 - MIS18BP1 Q6P0N0 VAR_050187 p.Glu851Gln Polymorphism rs34402741 - MITF O75030 VAR_010297 p.Arg310Lys Unclassified - - MITF O75030 VAR_010298 p.Asn317Lys Disease - Tietz syndrome (TIETZS) [MIM:103500] MITF O75030 VAR_010300 p.Ser357Pro Disease - Waardenburg syndrome type 2A (WS2A) [MIM:193510] MITF O75030 VAR_010301 p.Asn385Asp Disease - Waardenburg syndrome type 2A (WS2A) [MIM:193510] MITF O75030 VAR_010302 p.Ser405Pro Disease - Waardenburg syndrome type 2A (WS2A) [MIM:193510] MKI67IP Q9BYG3 VAR_027182 p.Pro144Gln Polymorphism rs17852212 - MKI67 P46013 VAR_014858 p.Thr3150Ser Polymorphism rs11106 - MKI67 P46013 VAR_014859 p.Lys3217Glu Polymorphism rs8473 - MKI67 P46013 VAR_020047 p.Glu1403Val Polymorphism rs3740423 - MKI67 P46013 VAR_021838 p.Thr1247Ile Polymorphism rs4750685 - MKI67 P46013 VAR_024161 p.Ile631Leu Polymorphism rs997983 - MKI67 P46013 VAR_024162 p.Leu854Val Polymorphism rs2240 - MKI67 P46013 VAR_024163 p.Gly1042Ser Polymorphism rs2152143 - MKI67 P46013 VAR_024164 p.Thr2337Asn Polymorphism rs7083622 - MKI67 P46013 VAR_024165 p.Pro2608Leu Polymorphism rs1063535 - MKI67 P46013 VAR_024166 p.Thr2720Pro Polymorphism rs1050767 - MKI67 P46013 VAR_024167 p.Thr2868Ser Polymorphism rs2071496 - MKI67 P46013 VAR_029055 p.Asn104Ser Polymorphism rs2071498 - MKI67 P46013 VAR_029056 p.Trp238Arg Polymorphism rs7095325 - MKI67 P46013 VAR_029057 p.Glu497Asp Polymorphism rs11016076 - MKI67 P46013 VAR_029058 p.Gln574Pro Polymorphism rs4471342 - MKI67 P46013 VAR_029059 p.Ala872Val Polymorphism rs2853344 - MKI67 P46013 VAR_029060 p.Thr1120Ser Polymorphism rs11016074 - MKI67 P46013 VAR_029061 p.Leu1470Trp Polymorphism rs2853345 - MKI67 P46013 VAR_029062 p.Val1559Met Polymorphism rs7918199 - MKI67 P46013 VAR_029063 p.Pro1622Leu Polymorphism rs2782871 - MKI67 P46013 VAR_029064 p.Thr1849Ala Polymorphism rs2782872 - MKI67 P46013 VAR_029065 p.Arg1876Gln Polymorphism rs11591817 - MKI67 P46013 VAR_029066 p.Ile2101Thr Polymorphism rs11016073 - MKI67 P46013 VAR_029067 p.Asn2363Ser Polymorphism rs7071768 - MKI67 P46013 VAR_029068 p.Arg2649His Polymorphism rs12777740 - MKI67 P46013 VAR_029069 p.Asp2760Gly Polymorphism rs10082391 - MKI67 P46013 VAR_029070 p.Arg2786Gln Polymorphism rs10764749 - MKI67 P46013 VAR_029071 p.Ser2793Asn Polymorphism rs10082533 - MKI67 P46013 VAR_029072 p.Arg2845His Polymorphism rs11016072 - MKI67 P46013 VAR_029073 p.Gln2904Arg Polymorphism rs11016071 - MKI67 P46013 VAR_029074 p.Asn3097Asp Polymorphism rs2798669 - MKI67 P46013 VAR_033995 p.Arg832Trp Polymorphism rs34916904 - MKI67 P46013 VAR_033996 p.Leu1951Ile Polymorphism rs34116632 - MKI67 P46013 VAR_033997 p.Glu3102Gly Polymorphism rs34750407 - MKI67 P46013 VAR_061671 p.Arg2607His Polymorphism rs34688192 - MKKS Q9NPJ1 VAR_009864 p.Tyr37Cys Disease rs74315396 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_009864 p.Tyr37Cys Disease rs74315396 McKusick-Kaufman syndrome (MKKS) [MIM:236700] MKKS Q9NPJ1 VAR_009865 p.Gly49Val Polymorphism - - MKKS Q9NPJ1 VAR_009866 p.His84Tyr Disease rs74315395 McKusick-Kaufman syndrome (MKKS) [MIM:236700] MKKS Q9NPJ1 VAR_009867 p.Ala242Ser Disease rs74315394 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_009867 p.Ala242Ser Disease rs74315394 McKusick-Kaufman syndrome (MKKS) [MIM:236700] MKKS Q9NPJ1 VAR_009868 p.Arg517Cys Polymorphism rs1547 - MKKS Q9NPJ1 VAR_009869 p.Gly532Val Polymorphism rs1545 - MKKS Q9NPJ1 VAR_009882 p.Gly52Asp Disease rs28937875 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_009883 p.Thr57Ala Disease rs74315399 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_009884 p.Leu277Pro Disease rs74315398 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_013161 p.Cys499Ser Disease rs74315400 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_017035 p.Ile32Met Disease - Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_017036 p.Ser236Pro Disease - Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_017037 p.Asp286Ala Disease - Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_017038 p.Ser511Ala Disease - Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_017039 p.Arg518His Disease rs149051148 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_017040 p.Arg155Leu Disease rs138111422 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_017041 p.Ile339Val Disease rs145342800 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_017042 p.Gly345Glu Disease - Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_038898 p.Ala181Pro Disease - Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_038899 p.Thr237Ala Disease - Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_038900 p.Thr237Pro Disease - Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_038901 p.Thr325Pro Polymorphism rs137853156 - MKKS Q9NPJ1 VAR_038902 p.Ser460Pro Disease - Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKKS Q9NPJ1 VAR_038903 p.Asp492Asn Disease rs142327258 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] MKL1 Q969V6 VAR_021409 p.Ser648Gly Polymorphism rs878756 - MKL2 Q9ULH7 VAR_064732 p.Asp390Gly Unclassified - - MKLN1 Q9UL63 VAR_050057 p.Cys469Gly Polymorphism rs323844 - MKNK1 Q9BUB5 VAR_040801 p.Lys49Gln Polymorphism rs56351860 - MKNK1 Q9BUB5 VAR_040802 p.Leu158Val Polymorphism rs56408722 - MKNK1 Q9BUB5 VAR_040803 p.Asp308Asn Polymorphism rs55791614 - MKNK1 Q9BUB5 VAR_040804 p.Arg446Gln Polymorphism rs34881418 - MKNK2 Q9HBH9 VAR_040805 p.Asp73Asn Polymorphism rs56158214 - MKNK2 Q9HBH9 VAR_051648 p.Gln10Lys Polymorphism rs3746101 - MKNK2 Q9HBH9 VAR_051649 p.Arg428Gln Polymorphism rs34475638 - MKRN1 Q9UHC7 VAR_012161 p.Val243Leu Polymorphism rs2272095 - MKRN1 Q9UHC7 VAR_057214 p.Val439Ala Polymorphism rs1062786 - MKRN2 Q9H000 VAR_052085 p.Arg388Gln Polymorphism rs5746260 - MKRN3 Q13064 VAR_035955 p.Thr145Met Unclassified - A colorectal cancer sample MKRN3 Q13064 VAR_035956 p.Ser239Thr Unclassified - A colorectal cancer sample MKS1 Q9NXB0 VAR_060161 p.Leu39Phe Polymorphism rs11653070 - MKS1 Q9NXB0 VAR_062287 p.Arg123Gln Polymorphism - - MKS1 Q9NXB0 VAR_062288 p.Arg166Trp Disease - Meckel syndrome type 1 (MKS1) [MIM:249000] MKS1 Q9NXB0 VAR_062289 p.Asp286Gly Polymorphism - - MKS1 Q9NXB0 VAR_062291 p.Ile450Thr Polymorphism - - MKS1 Q9NXB0 VAR_062292 p.Cys492Trp Disease - Bardet-Biedl syndrome type 13 (BBS13) [MIM:209900] MKX Q8IYA7 VAR_033875 p.Arg40His Polymorphism rs34439626 - MLC1 Q15049 VAR_011699 p.Ser93Leu Disease rs80358245 Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_011700 p.Thr118Arg Disease - Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_011701 p.Gly212Arg Disease - Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_011702 p.Ser280Leu Disease rs121908341 Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_012731 p.Leu309Met Polymorphism rs80358240 - MLC1 Q15049 VAR_017438 p.Gly59Glu Disease rs80358242 Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_017439 p.Pro92Ser Disease rs121908345 Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_017440 p.Asn141Lys Disease rs121908343 Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_017441 p.Asn141Ser Disease rs121908344 Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] MLC1 Q15049 VAR_051186 p.Cys171Phe Polymorphism rs6010260 - MLC1 Q15049 VAR_051187 p.Asn344Ser Polymorphism rs11568188 - MLF1IP Q71F23 VAR_027144 p.Gly16Ser Polymorphism rs902174 - MLF1IP Q71F23 VAR_027145 p.Ile157Thr Polymorphism rs6552804 - MLF1IP Q71F23 VAR_027146 p.Ile214Met Polymorphism rs4616798 - MLF1IP Q71F23 VAR_048692 p.Gly16Arg Polymorphism rs902174 - MLF1IP Q71F23 VAR_048693 p.Ala279Thr Polymorphism rs34007339 - MLF1 P58340 VAR_022070 p.Pro226Thr Polymorphism rs15967 - MLF2 Q15773 VAR_036429 p.Phe80Cys Unclassified - A colorectal cancer sample MLH1 P40692 VAR_004433 p.Pro28Leu Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004434 p.Met35Arg Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004436 p.Ser44Phe Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004437 p.Gln62Lys Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004438 p.Asn64Ser Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004439 p.Gly67Arg Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004440 p.Ile68Asn Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004441 p.Arg69Lys Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004442 p.Cys77Arg Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004443 p.Ser93Gly Polymorphism rs41295282 - MLH1 P40692 VAR_004444 p.Ile107Arg Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004445 p.Thr117Met Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004446 p.Thr117Arg Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004447 p.Val185Gly Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004448 p.Ser193Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004449 p.Arg217Cys Unclassified rs4986984 - MLH1 P40692 VAR_004450 p.Ile219Val Polymorphism rs1799977 - MLH1 P40692 VAR_004451 p.Arg226Leu Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004453 p.Val326Ala Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004454 p.Val384Asp Unclassified - - MLH1 P40692 VAR_004455 p.Ala492Thr Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004456 p.Val506Ala Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004457 p.Gln542Leu Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004458 p.Leu574Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004459 p.Glu578Gly Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004460 p.Leu582Val Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004462 p.Lys618Ala Polymorphism rs35502531 - MLH1 P40692 VAR_004463 p.Lys618Thr Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004465 p.Arg659Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_004466 p.Ala681Thr Unclassified - - MLH1 P40692 VAR_004467 p.His718Tyr Unclassified rs2020873 - MLH1 P40692 VAR_004468 p.Leu729Val Polymorphism rs1800149 - MLH1 P40692 VAR_012902 p.Gly54Glu Unclassified - - MLH1 P40692 VAR_012903 p.Gly67Trp Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012904 p.Cys77Tyr Unclassified - - MLH1 P40692 VAR_012905 p.Phe80Val Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012906 p.Lys84Glu Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012907 p.Ala111Val Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012908 p.Ala128Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012909 p.Arg182Gly Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012910 p.Val213Met Polymorphism rs2308317 - MLH1 P40692 VAR_012911 p.Gly244Asp Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012912 p.Gly244Val Unclassified - - MLH1 P40692 VAR_012914 p.Arg265His Polymorphism - - MLH1 P40692 VAR_012915 p.Glu268Gly Unclassified - - MLH1 P40692 VAR_012916 p.Ser295Thr Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012917 p.Arg325Gln Unclassified - - MLH1 P40692 VAR_012918 p.His329Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012919 p.Ser406Asn Polymorphism rs41294980 - MLH1 P40692 VAR_012920 p.Ala441Thr Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012921 p.Leu549Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012922 p.Asn551Thr Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012923 p.Ile565Phe Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012924 p.Leu588Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012925 p.Pro603Arg Unclassified rs35831931 - MLH1 P40692 VAR_012926 p.Leu607His Unclassified rs41295284 - MLH1 P40692 VAR_012927 p.Leu622His Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012928 p.Pro648Leu Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012929 p.Arg659Leu Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_012930 p.Thr662Pro Unclassified - - MLH1 P40692 VAR_012931 p.Arg687Trp Unclassified - - MLH1 P40692 VAR_012932 p.Gln689Arg Unclassified - - MLH1 P40692 VAR_012933 p.Val716Met Polymorphism rs35831931 - MLH1 P40692 VAR_012934 p.Lys751Arg Unclassified - - MLH1 P40692 VAR_012935 p.Arg755Trp Unclassified - - MLH1 P40692 VAR_014876 p.Ile32Val Polymorphism rs2020872 - MLH1 P40692 VAR_015689 p.Ala586Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_020469 p.Arg217Gly Polymorphism - - MLH1 P40692 VAR_022663 p.Arg18Cys Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_022664 p.Gly101Asp Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_022665 p.Asp132His Polymorphism rs28930073 - MLH1 P40692 VAR_022666 p.Arg182Lys Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_022667 p.Tyr379Cys Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_022668 p.Leu559Arg Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_022669 p.Pro648Ser Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_038023 p.Gly22Ala Polymorphism rs41295280 - MLH1 P40692 VAR_038024 p.Gly67Glu Unclassified - - MLH1 P40692 VAR_038025 p.Pro309Ser Polymorphism - - MLH1 P40692 VAR_043383 p.Ile19Phe Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043384 p.Ala21Val Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043385 p.Ile25Phe Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043386 p.Ala29Ser Unclassified - - MLH1 P40692 VAR_043387 p.Met35Lys Unclassified - - MLH1 P40692 VAR_043388 p.Met35Asn Disease - Mismatch repair cancer syndrome (MMRCS) [MIM:276300] MLH1 P40692 VAR_043389 p.Asn38His Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043390 p.Asp41Gly Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043392 p.Asp63Glu Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043394 p.Glu102Lys Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043395 p.Ser106Arg Unclassified - Gastric cancer MLH1 P40692 VAR_043396 p.His109Gln Unclassified - Gastric cancer MLH1 P40692 VAR_043397 p.Leu155Arg Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043398 p.Val185Leu Unclassified - - MLH1 P40692 VAR_043399 p.Glu234Gly Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043400 p.Ser247Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043401 p.Leu260Arg Unclassified - - MLH1 P40692 VAR_043402 p.His264Tyr Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043403 p.Ala282Gly Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043404 p.Leu292Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043405 p.Asp304Val Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043406 p.Ser321Ile Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043409 p.Asn338Ser Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043410 p.Arg385Cys Unclassified - - MLH1 P40692 VAR_043411 p.Arg385Pro Unclassified - - MLH1 P40692 VAR_043412 p.Lys443Gln Polymorphism rs34213726 - MLH1 P40692 VAR_043413 p.Arg472Ile Unclassified - - MLH1 P40692 VAR_043414 p.Arg474Gln Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043415 p.Asp485Glu Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043416 p.Asp485His Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043417 p.Gln542Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043418 p.Leu550Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043419 p.Ala589Asp Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043421 p.Asp601Gly Unclassified - - MLH1 P40692 VAR_043424 p.Lys618Arg Unclassified - Colorectal cancer MLH1 P40692 VAR_043425 p.Ala623Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043426 p.Asp631Ala Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043427 p.Asn635Lys Unclassified - Gastric cancer MLH1 P40692 VAR_043428 p.Leu636Pro Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043429 p.Pro640Ser Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043430 p.Tyr646Cys Unclassified rs35045067 - MLH1 P40692 VAR_043431 p.Pro654Leu Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043432 p.Ile655Val Polymorphism rs55907433 - MLH1 P40692 VAR_043434 p.Arg659Gln Polymorphism - - MLH1 P40692 VAR_043436 p.Leu724Met Disease - Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] MLH1 P40692 VAR_043437 p.Leu749Pro Unclassified - Colorectal cancer MLH1 P40692 VAR_054522 p.Asp41His Unclassified - - MLH1 P40692 VAR_054523 p.Gly98Ser Unclassified - - MLH1 P40692 VAR_054524 p.Gly101Ser Unclassified - - MLH1 P40692 VAR_054525 p.Thr116Lys Unclassified - - MLH1 P40692 VAR_054526 p.Tyr126Asn Unclassified - - MLH1 P40692 VAR_054527 p.Asn215Ser Unclassified - - MLH1 P40692 VAR_054528 p.Ile216Ser Unclassified - - MLH1 P40692 VAR_054529 p.Leu260Phe Unclassified - - MLH1 P40692 VAR_054530 p.Arg265Cys Unclassified - - MLH1 P40692 VAR_054531 p.Glu320Asp Unclassified - - MLH1 P40692 VAR_054532 p.Arg474Trp Unclassified - - MLH1 P40692 VAR_054533 p.Ala539Asp Unclassified - - MLH1 P40692 VAR_054534 p.Leu585Arg Unclassified - - MLH1 P40692 VAR_054535 p.Ala619Pro Unclassified - - MLH1 P40692 VAR_054536 p.Pro640Leu Unclassified - - MLH1 P40692 VAR_054537 p.Phe656Ser Unclassified - - MLH1 P40692 VAR_054538 p.Trp666Arg Unclassified - - MLH3 Q9UHC1 VAR_010790 p.His494Arg Polymorphism - - MLH3 Q9UHC1 VAR_012946 p.Gln24Glu Disease rs28937870 Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012947 p.Asn499Ser Disease rs28937871 Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012948 p.Glu624Gln Disease rs28756986 Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012949 p.Arg647Cys Disease rs28756987 Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012950 p.Ser817Gly Disease - Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012951 p.Gly981Ser Disease - Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012952 p.Asn1007Ser Disease - Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012953 p.Ala1394Thr Disease - Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_012954 p.Glu1451Lys Disease rs28939071 Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] MLH3 Q9UHC1 VAR_023338 p.Arg93Gly Polymorphism rs28756978 - MLH3 Q9UHC1 VAR_023339 p.Phe120Ser Polymorphism rs28756979 - MLH3 Q9UHC1 VAR_023340 p.Lys231Gln Polymorphism rs28756981 - MLH3 Q9UHC1 VAR_023341 p.Val420Ile Polymorphism rs28756982 - MLH3 Q9UHC1 VAR_023342 p.Leu492Val Polymorphism rs28756983 - MLH3 Q9UHC1 VAR_023343 p.Arg600Gln Polymorphism rs28756984 - MLH3 Q9UHC1 VAR_023344 p.Thr606Pro Polymorphism rs28756985 - MLH3 Q9UHC1 VAR_023345 p.Tyr720Cys Polymorphism rs28756988 - MLH3 Q9UHC1 VAR_023346 p.Val723Ile Polymorphism rs28756989 - MLH3 Q9UHC1 VAR_023347 p.Val741Phe Polymorphism rs28756990 - MLH3 Q9UHC1 VAR_023348 p.Arg797His Polymorphism rs28756991 - MLH3 Q9UHC1 VAR_023349 p.Pro844Leu Polymorphism rs175080 - MLH3 Q9UHC1 VAR_023350 p.Ser845Gly Polymorphism rs28756992 - MLH3 Q9UHC1 VAR_023351 p.Thr942Ile Polymorphism rs17102999 - MLH3 Q9UHC1 VAR_023352 p.Ser966Pro Polymorphism rs17782839 - MLH3 Q9UHC1 VAR_023353 p.Asp1073Asn Polymorphism rs28756993 - MLH3 Q9UHC1 VAR_023354 p.Asp1105Glu Polymorphism rs28757008 - MLH3 Q9UHC1 VAR_023355 p.Gly1163Asp Polymorphism rs28757011 - MLH3 Q9UHC1 VAR_023356 p.Gly1319Arg Polymorphism - - MLH3 Q9UHC1 VAR_036781 p.Asn826Asp Polymorphism rs175081 - MLIP Q5VWP3 VAR_023381 p.Val159Ile Polymorphism rs4712056 - MLIP Q5VWP3 VAR_023382 p.Ser320Thr Polymorphism rs6934690 - MLIP Q5VWP3 VAR_033676 p.Arg6His Polymorphism rs17625497 - MLIP Q5VWP3 VAR_056800 p.Pro376Ser Polymorphism rs2275769 - MLK4 Q5TCX8 VAR_040729 p.Asp420Asn Polymorphism rs35465006 - MLK4 Q5TCX8 VAR_040730 p.Glu563Asp Polymorphism rs35758282 - MLK4 Q5TCX8 VAR_040731 p.Ser597Phe Polymorphism rs34984140 - MLK4 Q5TCX8 VAR_040732 p.Val728Ile Polymorphism rs3795375 - MLK4 Q5TCX8 VAR_040733 p.Glu741Asp Polymorphism rs3795374 - MLK4 Q5TCX8 VAR_040734 p.Cys784Gly Polymorphism rs963981 - MLK4 Q5TCX8 VAR_040735 p.Arg892Trp Polymorphism rs55681416 - MLK4 Q5TCX8 VAR_040736 p.Thr900Ile Polymorphism rs34499091 - MLK4 Q5TCX8 VAR_040737 p.Arg977Cys Polymorphism rs56065162 - MLK4 Q5TCX8 VAR_040738 p.Pro982Leu Polymorphism rs34794284 - MLKL Q8NB16 VAR_041350 p.Ser52Thr Polymorphism rs34251827 - MLKL Q8NB16 VAR_041351 p.Asp100Glu Polymorphism rs33987771 - MLKL Q8NB16 VAR_041352 p.Ser132Pro Polymorphism rs35589326 - MLKL Q8NB16 VAR_041353 p.Arg146Gln Polymorphism rs34515646 - MLKL Q8NB16 VAR_041354 p.Met169Leu Polymorphism rs55929310 - MLKL Q8NB16 VAR_041355 p.Leu291Pro Unclassified - A gastric adenocarcinoma sample MLKL Q8NB16 VAR_041356 p.Thr364Met Polymorphism rs34389205 - MLKL Q8NB16 VAR_041357 p.Phe398Ile Unclassified - A gastric adenocarcinoma sample MLKL Q8NB16 VAR_041358 p.Arg421His Polymorphism rs55987292 - MLL2 O14686 VAR_017115 p.Arg5224His Polymorphism rs3782356 - MLL2 O14686 VAR_057359 p.Ala476Thr Polymorphism rs1064210 - MLL2 O14686 VAR_063830 p.Cys5109Phe Disease - Kabuki syndrome type 1 (KABUK1) [MIM:147920] MLL2 O14686 VAR_063831 p.Arg5179His Disease - Kabuki syndrome type 1 (KABUK1) [MIM:147920] MLL2 O14686 VAR_063832 p.Arg5214His Disease - Kabuki syndrome type 1 (KABUK1) [MIM:147920] MLL2 O14686 VAR_063833 p.Arg5340Leu Disease - Kabuki syndrome type 1 (KABUK1) [MIM:147920] MLL2 O14686 VAR_063834 p.Thr5464Met Disease - Kabuki syndrome type 1 (KABUK1) [MIM:147920] MLL2 O14686 VAR_064370 p.Pro692Thr Polymorphism - - MLL2 O14686 VAR_064371 p.Pro813Leu Polymorphism - - MLL2 O14686 VAR_064372 p.Pro2382Ser Polymorphism - - MLL2 O14686 VAR_064373 p.Arg2460Cys Polymorphism - - MLL2 O14686 VAR_064374 p.Pro2557Leu Polymorphism - - MLL2 O14686 VAR_064375 p.Met3398Val Polymorphism - - MLL2 O14686 VAR_064376 p.Asp3419Gly Polymorphism - - MLL2 O14686 VAR_064377 p.Arg4357Ser Polymorphism - - MLL2 O14686 VAR_064378 p.Tyr5210Cys Disease - Kabuki syndrome type 1 (KABUK1) [MIM:147920] MLL2 O14686 VAR_064379 p.Gly5428Asp Disease - Kabuki syndrome type 1 (KABUK1) [MIM:147920] MLL3 Q8NEZ4 VAR_017117 p.Ile823Thr Polymorphism rs2838171 - MLL3 Q8NEZ4 VAR_017118 p.Ile823Asn Polymorphism rs2838171 - MLL3 Q8NEZ4 VAR_036311 p.Cys347Gly Unclassified - A colorectal cancer sample MLL3 Q8NEZ4 VAR_036312 p.Asp400Asn Unclassified - A colorectal cancer sample MLL3 Q8NEZ4 VAR_036313 p.Leu478Trp Unclassified - A colorectal cancer sample MLL3 Q8NEZ4 VAR_036314 p.Thr3698Ser Unclassified - A colorectal cancer sample MLL3 Q8NEZ4 VAR_057360 p.Arg526Pro Polymorphism rs3735156 - MLL3 Q8NEZ4 VAR_057361 p.Ser1836Asn Polymorphism rs11771635 - MLL3 Q8NEZ4 VAR_057362 p.Thr2008Ala Polymorphism rs6951159 - MLL3 Q8NEZ4 VAR_057363 p.Pro2412Thr Polymorphism rs13231116 - MLL3 Q8NEZ4 VAR_057364 p.Pro2600Ala Polymorphism rs2270234 - MLL3 Q8NEZ4 VAR_061911 p.Leu291Phe Polymorphism rs56850341 - MLL3 Q8NEZ4 VAR_061912 p.Thr316Ser Polymorphism rs10454320 - MLL5 Q8IZD2 VAR_052656 p.Ser1424Pro Polymorphism rs35605511 - MLL Q03164 VAR_021317 p.Ala30Gly Polymorphism rs9332745 - MLL Q03164 VAR_021318 p.Ala53Val Polymorphism rs9332747 - MLL Q03164 VAR_021319 p.Glu502Lys Polymorphism rs9332772 - MLL Q03164 VAR_021320 p.Ser2319Thr Polymorphism rs9332837 - MLL Q03164 VAR_021321 p.Pro2354Arg Polymorphism rs9332838 - MLL Q03164 VAR_021322 p.Gln2387Arg Polymorphism rs9332839 - MLL Q03164 VAR_021323 p.Val3714Ile Polymorphism rs9332859 - MLL Q03164 VAR_021324 p.Ser3773Ala Polymorphism rs9332861 - MLL Q03164 VAR_052652 p.Gln1975Pro Polymorphism rs693598 - MLLT6 P55198 VAR_022076 p.Ala198Thr Polymorphism rs2241012 - MLN P12872 VAR_020372 p.Val15Ala Polymorphism rs2281820 - MLPH Q9BV36 VAR_015690 p.Arg139Trp Polymorphism rs2292880 - MLPH Q9BV36 VAR_015691 p.Leu153Pro Polymorphism rs3751109 - MLPH Q9BV36 VAR_015692 p.Asp163Asn Polymorphism rs3751108 - MLPH Q9BV36 VAR_015693 p.Gly172Asp Polymorphism rs3751107 - MLPH Q9BV36 VAR_015694 p.His347Arg Polymorphism rs2292884 - MLPH Q9BV36 VAR_015695 p.Val374Ala Polymorphism rs3817362 - MLPH Q9BV36 VAR_018724 p.Arg35Trp Disease - Griscelli syndrome type 3 (GS3) [MIM:609227] MLPH Q9BV36 VAR_038410 p.Thr289Ile Polymorphism rs11883500 - MLPH Q9BV36 VAR_061754 p.Pro451Ser Polymorphism rs58256353 - MLTK Q9NYL2 VAR_022827 p.Ser531Leu Polymorphism rs3769148 - MLTK Q9NYL2 VAR_040806 p.Thr267Met Polymorphism rs6758025 - MLTK Q9NYL2 VAR_040807 p.Ala281Thr Unclassified - - MLTK Q9NYL2 VAR_040808 p.Ala281Val Polymorphism rs34683477 - MLTK Q9NYL2 VAR_040809 p.Arg580Trp Polymorphism rs7593622 - MLTK Q9NYL2 VAR_040810 p.Pro740Thr Polymorphism rs56202258 - MLTK Q9NYL2 VAR_040811 p.Tyr773His Polymorphism rs35608243 - MLTK Q9NYL2 VAR_040812 p.Lys784Thr Polymorphism rs55830025 - MLXIPL Q9NP71 VAR_049556 p.Gln241His Polymorphism rs3812316 - MLXIPL Q9NP71 VAR_049557 p.Asp244Glu Polymorphism rs34922362 - MLXIP Q9HAP2 VAR_059344 p.Glu396Gly Polymorphism rs7978353 - MLXIP Q9HAP2 VAR_059345 p.Val539Leu Polymorphism rs34702867 - MLX Q9UH92 VAR_049547 p.Gln223Arg Polymorphism rs665268 - MMAA Q8IVH4 VAR_017202 p.Tyr207Cys Disease - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_020423 p.Gln363His Polymorphism rs2270655 - MMAA Q8IVH4 VAR_020835 p.Leu89Pro Disease - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_020836 p.Arg145Gln Disease - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_020837 p.Gly218Glu Disease - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_020838 p.Arg359Gln Disease - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAA Q8IVH4 VAR_038804 p.Arg359Gly Disease - Methylmalonic aciduria type cblA (MMAA) [MIM:251100] MMAB Q96EY8 VAR_017203 p.Arg19Gln Polymorphism rs36013132 - MMAB Q96EY8 VAR_017204 p.Ala135Thr Disease rs35648932 Methylmalonic aciduria type cblB (MMAB) [MIM:251110] MMAB Q96EY8 VAR_017205 p.Arg186Trp Polymorphism rs28941784 - MMAB Q96EY8 VAR_017206 p.Arg191Trp Disease - Methylmalonic aciduria type cblB (MMAB) [MIM:251110] MMAB Q96EY8 VAR_017207 p.Glu193Lys Disease - Methylmalonic aciduria type cblB (MMAB) [MIM:251110] MMAB Q96EY8 VAR_017208 p.Met239Lys Polymorphism rs9593 - MMAB Q96EY8 VAR_023471 p.Ile96Thr Disease - Methylmalonic aciduria type cblB (MMAB) [MIM:251110] MMAB Q96EY8 VAR_038803 p.Arg19His Polymorphism rs10774775 - MMACHC Q9Y4U1 VAR_024770 p.Gln27Arg Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024771 p.Leu116Pro Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024772 p.His122Arg Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024773 p.Tyr130His Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024774 p.Gly147Ala Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024775 p.Gly147Asp Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024776 p.Gly156Asp Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024777 p.Trp157Cys Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024778 p.Arg161Gly Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024779 p.Arg161Gln Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024780 p.Arg189Ser Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024781 p.Leu193Pro Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024782 p.Arg206Pro Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_024783 p.Arg206Trp Disease - Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] MMACHC Q9Y4U1 VAR_038805 p.Ser271Gly Polymorphism rs35219601 - MMADHC Q9H3L0 VAR_043844 p.Thr182Asn Disease - Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410] MMADHC Q9H3L0 VAR_043846 p.Tyr249Cys Disease - Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410] MMADHC Q9H3L0 VAR_043847 p.Leu259Pro Disease - Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410] MMEL1 Q495T6 VAR_027348 p.Met518Thr Polymorphism rs3748816 - MMP10 P09238 VAR_020949 p.Leu4Val Polymorphism rs17435959 - MMP10 P09238 VAR_020950 p.Arg53Lys Polymorphism rs486055 - MMP10 P09238 VAR_020951 p.Gly65Arg Polymorphism rs17293607 - MMP10 P09238 VAR_020952 p.Phe226Leu Polymorphism rs17860971 - MMP10 P09238 VAR_020953 p.Gly282Glu Polymorphism rs17860973 - MMP10 P09238 VAR_020954 p.Leu440Phe Polymorphism rs17860996 - MMP10 P09238 VAR_020955 p.His475Leu Polymorphism rs17861009 - MMP10 P09238 VAR_036139 p.Glu142Gln Unclassified - A breast cancer sample MMP11 P24347 VAR_022181 p.Ala38Val Polymorphism rs738792 - MMP11 P24347 VAR_022182 p.Glu44Lys Polymorphism rs28363646 - MMP11 P24347 VAR_022183 p.Pro61Leu Polymorphism rs28363647 - MMP11 P24347 VAR_022184 p.Ser86Pro Polymorphism rs28363648 - MMP11 P24347 VAR_029659 p.Phe182Ser Polymorphism rs17854940 - MMP11 P24347 VAR_036140 p.Asp166Asn Unclassified - A colorectal cancer sample MMP12 P39900 VAR_021343 p.Asn357Ser Polymorphism rs652438 - MMP12 P39900 VAR_021344 p.Gly469Arg Polymorphism rs28381701 - MMP13 P45452 VAR_011971 p.His2Leu Polymorphism rs554797 - MMP13 P45452 VAR_020534 p.Asp390Gly Polymorphism rs17860568 - MMP13 P45452 VAR_032753 p.Phe75Ser Disease - Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111] MMP13 P45452 VAR_063432 p.Phe74Ser Disease - Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111] MMP13 P45452 VAR_063433 p.Met91Thr Disease - Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111] MMP13 P45452 VAR_063434 p.His232Asn Disease - Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111] MMP14 P50281 VAR_021029 p.Ala4Thr Polymorphism rs17882219 - MMP14 P50281 VAR_021030 p.Arg6Lys Polymorphism rs17884647 - MMP14 P50281 VAR_021031 p.Pro8Ser Polymorphism rs1042703 - MMP14 P50281 VAR_021032 p.Ile233Val Polymorphism rs17884841 - MMP14 P50281 VAR_021033 p.Asp273Asn Polymorphism rs1042704 - MMP14 P50281 VAR_021034 p.Arg302Trp Polymorphism rs17884719 - MMP14 P50281 VAR_021035 p.Met355Ile Polymorphism rs17880989 - MMP14 P50281 VAR_031267 p.Arg431His Polymorphism rs3751489 - MMP15 P51511 VAR_020055 p.Gly609Arg Polymorphism rs3743563 - MMP15 P51511 VAR_030523 p.Leu200Pro Polymorphism rs41340745 - MMP15 P51511 VAR_030524 p.Pro350Leu Polymorphism rs41335851 - MMP15 P51511 VAR_030525 p.Asp596Gly Polymorphism rs41504346 - MMP15 P51511 VAR_030526 p.Arg622Trp Polymorphism rs41434246 - MMP19 Q99542 VAR_021036 p.Arg103Cys Polymorphism rs17844794 - MMP19 Q99542 VAR_021037 p.Pro488Thr Polymorphism rs17118042 - MMP19 Q99542 VAR_021038 p.Thr491Met Polymorphism rs17844806 - MMP19 Q99542 VAR_054006 p.Pro245Ser Polymorphism rs1056784 - MMP1 P03956 VAR_011969 p.Gln29Pro Polymorphism rs554499 - MMP1 P03956 VAR_011970 p.Asp252Gly Polymorphism rs513964 - MMP1 P03956 VAR_021024 p.Ile191Val Polymorphism rs17879973 - MMP1 P03956 VAR_021025 p.Arg405Gln Polymorphism rs17879165 - MMP1 P03956 VAR_021026 p.Ser406Thr Polymorphism rs17884120 - MMP1 P03956 VAR_054005 p.Arg262Ser Polymorphism rs12282811 - MMP20 O60882 VAR_020511 p.Lys18Thr Polymorphism rs2245803 - MMP20 O60882 VAR_020512 p.Asp139Asn Polymorphism rs17099014 - MMP20 O60882 VAR_020513 p.Ile169Leu Polymorphism rs17099008 - MMP20 O60882 VAR_020514 p.Val275Ala Polymorphism rs1784423 - MMP20 O60882 VAR_057802 p.Thr281Asn Polymorphism rs1784424 - MMP21 Q8N119 VAR_019393 p.Val191Ala Polymorphism rs10901425 - MMP21 Q8N119 VAR_022291 p.Ala95Glu Polymorphism rs28381282 - MMP21 Q8N119 VAR_022292 p.Pro115Gln Polymorphism rs28381284 - MMP21 Q8N119 VAR_022293 p.Glu349Gly Polymorphism rs28381302 - MMP21 Q8N119 VAR_022294 p.Ala454Val Polymorphism rs28381319 - MMP21 Q8N119 VAR_032824 p.Asp263Glu Polymorphism rs34811493 - MMP21 Q8N119 VAR_057803 p.Ala311Thr Polymorphism rs17173746 - MMP21 Q8N119 VAR_057804 p.Arg360His Polymorphism rs17153524 - MMP23A O75900 VAR_028948 p.Phe91Leu Polymorphism rs1139033 - MMP24 Q9Y5R2 VAR_060166 p.Arg564His Polymorphism rs751887 - MMP26 Q9NRE1 VAR_033489 p.Lys43Glu Polymorphism rs2499953 - MMP26 Q9NRE1 VAR_033490 p.Ile260Met Polymorphism rs16908114 - MMP27 Q9H306 VAR_032326 p.Arg22Trp Polymorphism rs12099177 - MMP27 Q9H306 VAR_032327 p.Thr24Met Polymorphism rs1939015 - MMP27 Q9H306 VAR_032328 p.Met30Val Polymorphism rs2846707 - MMP27 Q9H306 VAR_032329 p.Glu266Val Polymorphism rs1276286 - MMP27 Q9H306 VAR_032330 p.Trp304Leu Polymorphism rs35616217 - MMP27 Q9H306 VAR_032331 p.Asp447Asn Polymorphism rs2509010 - MMP27 Q9H306 VAR_032332 p.Ile477Val Polymorphism rs35822551 - MMP2 P08253 VAR_020616 p.Ala447Val Polymorphism rs17859943 - MMP2 P08253 VAR_020617 p.Val621Leu Polymorphism rs16955280 - MMP2 P08253 VAR_032423 p.Arg101His Disease - Torg-Winchester syndrome (TWS) [MIM:259600] MMP2 P08253 VAR_032424 p.Asp210Tyr Polymorphism - - MMP2 P08253 VAR_032425 p.Glu404Lys Disease - Torg-Winchester syndrome (TWS) [MIM:259600] MMP2 P08253 VAR_036136 p.Ala228Thr Unclassified - A colorectal cancer sample MMP2 P08253 VAR_036137 p.Thr498Met Unclassified - A colorectal cancer sample MMP2 P08253 VAR_036138 p.Ser644Ile Unclassified - A colorectal cancer sample MMP3 P08254 VAR_013090 p.Lys45Glu Polymorphism rs679620 - MMP7 P09237 VAR_006729 p.Arg77His Polymorphism rs10502001 - MMP7 P09237 VAR_021027 p.Gly137Asp Polymorphism rs17884789 - MMP7 P09237 VAR_021028 p.Pro241Leu Polymorphism rs17886506 - MMP8 P22894 VAR_006730 p.Lys87Glu Polymorphism rs1940475 - MMP8 P22894 VAR_025036 p.Ser3Cys Polymorphism rs17099450 - MMP8 P22894 VAR_025037 p.Thr32Ile Polymorphism rs3765620 - MMP8 P22894 VAR_025038 p.Gly154Glu Polymorphism rs35056226 - MMP8 P22894 VAR_025039 p.Asp193Val Polymorphism rs34428739 - MMP8 P22894 VAR_025040 p.Asn246Tyr Polymorphism rs35243553 - MMP8 P22894 VAR_025041 p.Val436Ala Polymorphism rs34009635 - MMP8 P22894 VAR_025042 p.Lys460Thr Polymorphism rs35866072 - MMP9 P14780 VAR_013780 p.Ala20Val Polymorphism rs1805088 - MMP9 P14780 VAR_013781 p.Glu82Lys Polymorphism rs1805089 - MMP9 P14780 VAR_013782 p.Gln279Arg Polymorphism rs17576 - MMP9 P14780 VAR_014742 p.Arg668Gln Polymorphism rs17577 - MMP9 P14780 VAR_020054 p.Asn127Lys Polymorphism rs3918252 - MMP9 P14780 VAR_024595 p.Arg574Pro Polymorphism rs2250889 - MMP9 P14780 VAR_025165 p.Arg239His Polymorphism rs28763886 - MMP9 P14780 VAR_025166 p.Phe571Val Polymorphism rs35691798 - MMP9 P14780 VAR_037004 p.Asn38Ser Polymorphism rs41427445 - MMRN1 Q13201 VAR_031471 p.Thr58Ala Polymorphism rs1442138 - MMRN1 Q13201 VAR_031472 p.Thr805Ala Polymorphism rs3756065 - MMRN1 Q13201 VAR_031473 p.Gly883Asp Polymorphism rs12646270 - MMRN1 Q13201 VAR_031474 p.Thr964Arg Polymorphism rs17855885 - MMRN2 Q9H8L6 VAR_019801 p.Gly49Ser Polymorphism rs3750823 - MMRN2 Q9H8L6 VAR_019802 p.His731Asp Polymorphism rs4934281 - MMRN2 Q9H8L6 VAR_036362 p.Val448Met Unclassified - A colorectal cancer sample MMRN2 Q9H8L6 VAR_053076 p.Ser831Arg Polymorphism rs36073867 - MMRN2 Q9H8L6 VAR_053077 p.Val910Leu Polymorphism rs34587013 - MMS19 Q96T76 VAR_023448 p.Ala68Gly Polymorphism rs2275586 - MMS19 Q96T76 VAR_023449 p.Arg98Trp Polymorphism rs29001280 - MMS19 Q96T76 VAR_023450 p.Val197Ile Polymorphism rs29001285 - MMS19 Q96T76 VAR_023451 p.Arg306His Polymorphism rs29001306 - MMS19 Q96T76 VAR_023452 p.Met365Val Polymorphism rs29001309 - MMS19 Q96T76 VAR_023453 p.Gln409Pro Polymorphism rs29001311 - MMS19 Q96T76 VAR_023454 p.Gln434Glu Polymorphism rs29001314 - MMS19 Q96T76 VAR_023455 p.Val526Ile Polymorphism rs17112809 - MMS19 Q96T76 VAR_023456 p.Ala558Val Polymorphism rs12360068 - MMS19 Q96T76 VAR_023457 p.Gly790Asp Polymorphism rs3740526 - MMS19 Q96T76 VAR_023458 p.Arg983His Polymorphism rs29001332 - MMS22L Q6ZRQ5 VAR_029013 p.Asn419Asp Polymorphism rs9374435 - MMS22L Q6ZRQ5 VAR_029014 p.Thr564Met Polymorphism rs9481410 - MMS22L Q6ZRQ5 VAR_029015 p.Val875Ala Polymorphism rs1737145 - MMS22L Q6ZRQ5 VAR_029016 p.Pro1015Leu Polymorphism rs10484830 - MN1 Q10571 VAR_047533 p.Gln382His Polymorphism rs45589338 - MNAT1 P51948 VAR_052084 p.Asp282Ala Polymorphism rs35188899 - MNDA P41218 VAR_012055 p.Val286Leu Polymorphism rs1056771 - MNDA P41218 VAR_020483 p.His357Tyr Polymorphism rs2276403 - MNDA P41218 VAR_034107 p.Ser156Arg Polymorphism rs35417083 - MNS1 Q8NEH6 VAR_034737 p.Cys10Tyr Polymorphism rs34807682 - MNS1 Q8NEH6 VAR_034738 p.Gln55Pro Polymorphism rs1715919 - MNS1 Q8NEH6 VAR_034739 p.Ile216Thr Polymorphism rs35775595 - MNS1 Q8NEH6 VAR_034740 p.Tyr244His Polymorphism rs17852882 - MNS1 Q8NEH6 VAR_034741 p.Glu426Gly Polymorphism rs17853357 - MNT Q99583 VAR_061258 p.Ala109Thr Polymorphism rs7207965 - MNX1 P50219 VAR_017874 p.Arg245Gly Disease - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017875 p.Arg245His Disease - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017876 p.Thr246Ser Disease - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017877 p.Trp288Gly Disease - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017878 p.Trp288Leu Disease - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017879 p.Gln290Pro Disease - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017880 p.Arg292Trp Disease - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017881 p.Arg293Gln Disease - Currarino syndrome (CURRAS) [MIM:176450] MNX1 P50219 VAR_017882 p.Arg293Trp Disease - Currarino syndrome (CURRAS) [MIM:176450] MOCOS Q96EN8 VAR_027528 p.Ala57Pro Disease - Xanthinuria type 2 (XU2) [MIM:603592] MOCOS Q96EN8 VAR_027529 p.Ser120Asn Polymorphism rs3744900 - MOCOS Q96EN8 VAR_027530 p.Thr170Ile Polymorphism rs623053 - MOCOS Q96EN8 VAR_027531 p.Ser184Gly Polymorphism rs540967 - MOCOS Q96EN8 VAR_027532 p.His225Arg Polymorphism rs623558 - MOCOS Q96EN8 VAR_027533 p.Thr294Ile Disease - Xanthinuria type 2 (XU2) [MIM:603592] MOCOS Q96EN8 VAR_027534 p.Val358Met Polymorphism rs678560 - MOCOS Q96EN8 VAR_027535 p.Asp495Asn Polymorphism rs8088347 - MOCOS Q96EN8 VAR_027536 p.Val541Leu Polymorphism rs672924 - MOCOS Q96EN8 VAR_027537 p.His703Asn Polymorphism rs594445 - MOCOS Q96EN8 VAR_027538 p.Val867Ala Polymorphism rs1057251 - MOCOS Q96EN8 VAR_045899 p.Arg776Cys Disease - Xanthinuria type 2 (XU2) [MIM:603592] MOCS1 Q9NZB8 VAR_015658 p.Arg73Trp Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_015659 p.Gly126Asp Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_015660 p.Gly127Asp Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_015661 p.Arg319Gln Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_015662 p.Gly324Glu Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_054823 p.Arg67Trp Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_054824 p.Cys80Gly Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_054825 p.Cys84Phe Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_054826 p.Arg123Trp Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_054827 p.Gly324Arg Disease - Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150] MOCS1 Q9NZB8 VAR_056131 p.Pro390His Polymorphism rs11969769 - MOCS1 Q9NZB8 VAR_061346 p.Arg452Leu Polymorphism rs11969206 - MOCS2 O96007 VAR_012765 p.Glu168Lys Disease - Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150] MOCS2 O96007 VAR_050091 p.Thr50Ala Polymorphism rs2233213 - MOCS2 O96007 VAR_050092 p.Thr77Ala Polymorphism rs2233215 - MOCS2 O96007 VAR_050093 p.His123Tyr Polymorphism rs2233218 - MOCS2 O96007 VAR_050094 p.Asn187Ser Polymorphism rs2233221 - MOCS2 O96033 VAR_050090 p.Val51Ala Polymorphism rs2233210 - MOCS2 O96033 VAR_054854 p.Val7Phe Disease - Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150] MOCS3 O95396 VAR_049349 p.Ser429Ala Polymorphism rs7269297 - MOGAT1 Q96PD6 VAR_027389 p.Ser163Pro Polymorphism rs1868024 - MOGAT1 Q96PD6 VAR_055695 p.Ala13Thr Polymorphism rs35959734 - MOGAT2 Q3SYC2 VAR_027390 p.Met9Val Polymorphism rs554202 - MOGAT2 Q3SYC2 VAR_027391 p.Cys313Tyr Polymorphism rs12281468 - MOGAT2 Q3SYC2 VAR_048857 p.Pro196His Polymorphism rs34582952 - MOG Q16653 VAR_056056 p.Val171Leu Polymorphism rs2857766 - MOG Q16653 VAR_060215 p.Ile174Val Polymorphism rs3130253 - MOGS Q13724 VAR_018966 p.Arg486Thr Disease - Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056] MOGS Q13724 VAR_018967 p.Phe652Leu Disease - Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056] MOGS Q13724 VAR_019361 p.Glu236Gln Polymorphism rs1063587 - MOGS Q13724 VAR_019362 p.Asp239Asn Polymorphism rs1063588 - MOGS Q13724 VAR_049233 p.Gly222Arg Polymorphism rs3213671 - MOGS Q13724 VAR_049234 p.Pro293Ser Polymorphism rs2268416 - MOGS Q13724 VAR_049235 p.Arg495Pro Polymorphism rs34075781 - MOGS Q13724 VAR_049236 p.Gly785Ser Polymorphism rs35533773 - MOK Q9UQ07 VAR_024576 p.Gln398Arg Polymorphism rs2236493 - MOK Q9UQ07 VAR_042011 p.Arg38His Polymorphism rs34114580 - MOK Q9UQ07 VAR_042012 p.Asp86Asn Polymorphism rs34084056 - MOK Q9UQ07 VAR_042013 p.Lys230Arg Polymorphism rs34965156 - MOK Q9UQ07 VAR_042014 p.Pro248Ser Polymorphism rs34299975 - MOK Q9UQ07 VAR_042015 p.Glu272Asp Unclassified - A breast pleomorphic lobular carcinoma sample MON2 Q7Z3U7 VAR_034689 p.Ala548Thr Polymorphism rs10219555 - MORC1 Q86VD1 VAR_051188 p.Thr153Pro Polymorphism rs35282274 - MORC1 Q86VD1 VAR_051189 p.Lys322Met Polymorphism rs17225637 - MORC1 Q86VD1 VAR_051190 p.Phe470Ile Polymorphism rs4855576 - MORC1 Q86VD1 VAR_051191 p.Met478Val Polymorphism rs3762697 - MORC1 Q86VD1 VAR_051192 p.Met649Ile Polymorphism rs35421732 - MORC1 Q86VD1 VAR_051193 p.Ser767Asn Polymorphism rs2290057 - MORC1 Q86VD1 VAR_051194 p.His836Tyr Polymorphism rs2593943 - MORC1 Q86VD1 VAR_051195 p.Ser982Cys Polymorphism rs16855035 - MORC1 Q86VD1 VAR_051196 p.Ser982Trp Polymorphism rs16855035 - MORC1 Q86VD1 VAR_059698 p.Asp462Glu Polymorphism rs3762696 - MORC4 Q8TE76 VAR_051197 p.Thr473Ile Polymorphism rs6622126 - MORC4 Q8TE76 VAR_051198 p.Arg653Cys Polymorphism rs3827464 - MORN1 Q5T089 VAR_027105 p.His330Tyr Polymorphism rs17851912 - MORN1 Q5T089 VAR_051199 p.Leu124Val Polymorphism rs12130128 - MORN2 Q502X0 VAR_027106 p.Glu48Lys Polymorphism rs3099950 - MOS P00540 VAR_040813 p.Arg96Leu Polymorphism rs34532635 - MOS P00540 VAR_040814 p.Ala105Ser Polymorphism rs35392772 - MOS P00540 VAR_040815 p.Ala123Thr Unclassified - A lung adenocarcinoma sample MOS P00540 VAR_040816 p.Ser300Pro Polymorphism rs56300224 - MOSPD1 Q9UJG1 VAR_036601 p.Val63Ile Unclassified - A breast cancer sample MOSPD2 Q8NHP6 VAR_034109 p.Ser240Asn Polymorphism rs35164803 - MOV10L1 Q9BXT6 VAR_013694 p.Ile454Leu Polymorphism rs760749 - MOV10L1 Q9BXT6 VAR_013695 p.Val650Ile Polymorphism rs2340601 - MOV10L1 Q9BXT6 VAR_013696 p.Gln820Arg Polymorphism rs2272837 - MOV10L1 Q9BXT6 VAR_013697 p.Ala1179Glu Polymorphism rs2272843 - MOV10L1 Q9BXT6 VAR_020148 p.Arg182Cys Polymorphism rs3810971 - MOV10L1 Q9BXT6 VAR_034100 p.Met57Leu Polymorphism rs9617066 - MOV10L1 Q9BXT6 VAR_034101 p.Ser683Gly Polymorphism rs3736689 - MOV10L1 Q9BXT6 VAR_059457 p.Thr18Ser Polymorphism rs12628964 - MOXD1 Q6UVY6 VAR_035185 p.Glu488Gln Polymorphism rs36075540 - MOXD1 Q6UVY6 VAR_035186 p.Lys539Glu Polymorphism rs17851680 - MP68 P56378 VAR_014526 p.Ile9Val Polymorphism rs1053419 - MPC1 Q9Y5U8 VAR_052486 p.Leu36Ile Polymorphism rs11557064 - MPDU1 O75352 VAR_021388 p.Gly73Glu Disease - Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180] MPDU1 O75352 VAR_021389 p.Leu74Ser Disease - Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180] MPDU1 O75352 VAR_021390 p.Leu119Pro Disease - Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180] MPDU1 O75352 VAR_047757 p.Gly225Ser Polymorphism rs16956808 - MPDU1 O75352 VAR_047758 p.Ala229Thr Polymorphism rs10852891 - MPDZ O75970 VAR_056115 p.Ser92Leu Polymorphism rs17273542 - MPDZ O75970 VAR_056116 p.Leu351Phe Polymorphism rs3739757 - MPDZ O75970 VAR_056117 p.Glu702Lys Polymorphism rs4741289 - MPDZ O75970 VAR_056118 p.Glu702Val Polymorphism rs4740548 - MPDZ O75970 VAR_056119 p.Thr1604Ala Polymorphism rs16930134 - MPDZ O75970 VAR_056120 p.Gly1663Arg Polymorphism rs2274648 - MPEG1 Q2M385 VAR_051200 p.Ala467Thr Polymorphism rs544864 - MPEG1 Q2M385 VAR_051201 p.Pro552Leu Polymorphism rs7926933 - MPEG1 Q2M385 VAR_051202 p.Gln694Arg Polymorphism rs17153442 - MPG P29372 VAR_014831 p.Pro64Leu Polymorphism rs2308315 - MPG P29372 VAR_014832 p.Tyr71His Polymorphism rs2266607 - MPG P29372 VAR_014833 p.Arg120Cys Polymorphism rs2308313 - MPG P29372 VAR_014834 p.Arg141Gln Polymorphism rs2308312 - MPG P29372 VAR_014835 p.Ala258Val Polymorphism rs769193 - MPG P29372 VAR_014836 p.Ala298Ser Polymorphism rs2234949 - MPG P29372 VAR_019138 p.Lys22Gln Polymorphism rs3176383 - MPG P29372 VAR_050096 p.Gln93Arg Polymorphism rs25671 - MPHOSPH10 O00566 VAR_014470 p.Glu634Lys Polymorphism rs6574 - MPHOSPH10 O00566 VAR_022000 p.Leu425Met Polymorphism rs3732240 - MPHOSPH10 O00566 VAR_024539 p.Glu229Asp Polymorphism rs1813160 - MPHOSPH10 O00566 VAR_053511 p.Glu69Ala Polymorphism rs10199088 - MPHOSPH10 O00566 VAR_053512 p.Arg115His Polymorphism rs13010513 - MPHOSPH10 O00566 VAR_053513 p.Asp140Asn Polymorphism rs10175940 - MPHOSPH10 O00566 VAR_053514 p.Ala639Thr Polymorphism rs4852764 - MPHOSPH6 Q99547 VAR_056150 p.Ile58Val Polymorphism rs2303267 - MPHOSPH9 Q99550 VAR_047643 p.Gly125Ser Polymorphism rs36121382 - MPHOSPH9 Q99550 VAR_047644 p.Ala926Asp Polymorphism rs1260318 - MPI P34949 VAR_012338 p.Ser102Leu Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_012339 p.Met138Thr Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_012340 p.Arg219Gln Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_012345 p.Ile140Thr Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022516 p.Met51Thr Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022517 p.Tyr129Cys Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022518 p.Asp131Asn Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022519 p.Arg152Gln Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022520 p.Gly250Ser Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022521 p.Tyr255Cys Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022522 p.Arg295His Disease rs28928906 Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022523 p.Ile398Thr Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPI P34949 VAR_022524 p.Arg418His Disease - Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] MPLKIP Q8TAP9 VAR_022940 p.Met144Val Disease - Trichothiodystrophy non-photosensitive type 1 (TTDN1) [MIM:234050] MPLKIP Q8TAP9 VAR_036273 p.Gly29Glu Unclassified - A breast cancer sample MPL P40238 VAR_011988 p.Ala58Val Polymorphism rs6087 - MPL P40238 VAR_011989 p.Glu168Lys Polymorphism rs6088 - MPL P40238 VAR_049173 p.Lys39Asn Polymorphism rs17292650 - MPL P40238 VAR_049174 p.Val114Met Polymorphism rs12731981 - MPO P05164 VAR_012066 p.Ile717Val Polymorphism rs2759 - MPO P05164 VAR_015377 p.Tyr173Cys Disease - Myeloperoxidase deficiency (MPOD) [MIM:254600] MPO P05164 VAR_015378 p.Met251Thr Disease rs56378716 Myeloperoxidase deficiency (MPOD) [MIM:254600] MPO P05164 VAR_015379 p.Arg569Trp Disease - Myeloperoxidase deficiency (MPOD) [MIM:254600] MPO P05164 VAR_023995 p.Val53Phe Polymorphism rs7208693 - MPO P05164 VAR_023996 p.Arg604Cys Polymorphism rs35670089 - MPO P05164 VAR_023997 p.Glu683Gln Polymorphism rs35702888 - MPO P05164 VAR_036517 p.Arg447Gln Unclassified - A colorectal cancer sample MPP1 Q00013 VAR_011914 p.Glu448Gln Polymorphism rs14092 - MPP3 Q13368 VAR_050014 p.Arg585Gly Polymorphism rs17742683 - MPP4 Q96JB8 VAR_022643 p.Gly44Ser Polymorphism rs6725443 - MPP4 Q96JB8 VAR_050015 p.Val562Ile Polymorphism rs11894115 - MPP7 Q5T2T1 VAR_039110 p.Lys322Arg Polymorphism rs2997211 - MPPE1 Q53F39 VAR_038294 p.Arg138Gln Polymorphism rs11872520 - MPPE1 Q53F39 VAR_038295 p.Val197Met Polymorphism rs35611363 - MPPE1 Q53F39 VAR_038296 p.Ala268Pro Polymorphism rs662515 - MPPE1 Q53F39 VAR_038297 p.Met336Leu Polymorphism rs16976814 - MPPED2 Q15777 VAR_052487 p.His67Arg Polymorphism rs11556749 - MPRIP Q6WCQ1 VAR_051203 p.Pro327Gln Polymorphism rs3744137 - MPV17L2 Q567V2 VAR_058299 p.Met72Val Polymorphism rs874628 - MPV17 P39210 VAR_026217 p.Arg50Gln Disease - Mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_026218 p.Arg50Trp Disease - Mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810] MPV17 P39210 VAR_026219 p.Asn166Lys Disease - Mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810] MPZL3 Q6UWV2 VAR_031108 p.Met155Val Polymorphism rs17121966 - MPZL3 Q6UWV2 VAR_031109 p.Asp228Val Polymorphism rs7105729 - MPZL3 Q6UWV2 VAR_050455 p.Val168Gly Polymorphism rs36102742 - MPZL3 Q6UWV2 VAR_050456 p.Val172Met Polymorphism rs34507994 - MPZ P25189 VAR_004500 p.Ile30Met Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004501 p.Val32Phe Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004502 p.Thr34Ile Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004503 p.Ser44Phe Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004503 p.Ser44Phe Disease - Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_004504 p.Ser54Cys Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004505 p.Ser54Pro Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004506 p.Val58Phe Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004508 p.Ser63Cys Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004509 p.Ser63Phe Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004511 p.Tyr68Cys Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004512 p.Ser78Leu Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004513 p.His81Arg Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004514 p.Tyr82Cys Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004514 p.Tyr82Cys Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004515 p.Asp90Glu Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004516 p.Gly93Glu Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004517 p.Lys96Glu Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004518 p.Arg98Cys Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004519 p.Arg98His Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004520 p.Arg98Pro Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004521 p.Arg98Ser Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004522 p.Ile99Thr Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004523 p.Trp101Cys Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004524 p.Ile112Thr Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004525 p.Ile114Thr Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004526 p.Asn116His Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004528 p.Asn122Ser Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004529 p.Thr124Met Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004529 p.Thr124Met Disease - Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736] MPZ P25189 VAR_004531 p.Cys127Tyr Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004532 p.Asp128Glu Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004533 p.Asp128Asn Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004534 p.Lys130Arg Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004534 p.Lys130Arg Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004535 p.Pro132Leu Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004536 p.Asp134Glu Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004537 p.Asp134Asn Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004538 p.Ile135Leu Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004538 p.Ile135Leu Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004539 p.Ile135Thr Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004540 p.Gly137Ser Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004541 p.Thr143Met Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004542 p.Gly163Arg Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004543 p.Gly167Ala Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_004543 p.Gly167Ala Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004544 p.Gly167Arg Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_004545 p.Arg244Leu Polymorphism - - MPZ P25189 VAR_015971 p.Asp35Tyr Disease - Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID) [MIM:607791] MPZ P25189 VAR_015972 p.Ile62Phe Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_015973 p.Asp75Val Disease - Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736] MPZ P25189 VAR_015974 p.Ile89Asn Disease - Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_015975 p.Val92Met Disease - Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_015976 p.Gly103Glu Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_015977 p.Gly123Cys Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_015977 p.Gly123Cys Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_015978 p.Asn131Lys Disease - Roussy-Levy syndrome (ROULS) [MIM:180800] MPZ P25189 VAR_015979 p.Val136Glu Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_015980 p.Ile162Met Disease - Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_021609 p.Asp118Asn Disease - Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_021610 p.Lys236Glu Disease - Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_029971 p.Ser51Phe Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029972 p.Asp60His Disease - Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_029973 p.Ile62Met Disease - Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] MPZ P25189 VAR_029974 p.Thr65Ile Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029975 p.Glu97Val Disease - Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736] MPZ P25189 VAR_029976 p.Gly110Asp Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_029977 p.Val113Ile Unclassified - - MPZ P25189 VAR_029978 p.Thr124Lys Disease - Congenital hypomyelination neuropathy (CHN) [MIM:605253] MPZ P25189 VAR_029979 p.Asp134Gly Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029980 p.Lys138Asn Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029981 p.Thr139Asn Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029982 p.Ser140Thr Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029983 p.Tyr145Ser Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029984 p.Val146Phe Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_029985 p.Leu170Arg Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_031885 p.Asp61Gly Unclassified - - MPZ P25189 VAR_031886 p.Thr65Ala Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_031887 p.Ser78Trp Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_031888 p.His81Tyr Unclassified - - MPZ P25189 VAR_031889 p.Asp109Asn Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_031890 p.Val113Phe Unclassified - - MPZ P25189 VAR_031891 p.Tyr119Cys Unclassified - - MPZ P25189 VAR_031892 p.Ala221Thr Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] MPZ P25189 VAR_054393 p.His39Pro Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_054396 p.Glu56Lys Unclassified - - MPZ P25189 VAR_054397 p.Asp224Tyr Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MPZ P25189 VAR_054398 p.Arg227Ser Disease - Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] MR1 Q95460 VAR_045608 p.His39Arg Polymorphism rs2236410 - MR1 Q95460 VAR_045609 p.Arg63Gln Polymorphism rs3897433 - MR1 Q95460 VAR_045610 p.Ala77Val Polymorphism rs3897434 - MRC1 P22897 VAR_019700 p.Thr167Ile Polymorphism rs2296414 - MRC1 P22897 VAR_065250 p.Gly396Ser Polymorphism rs1926736 - MRC1 P22897 VAR_065251 p.Thr399Ala Polymorphism rs35950447 - MRC1 P22897 VAR_065252 p.Leu407Phe Polymorphism rs2437257 - MRC2 Q9UBG0 VAR_025304 p.Val43Ile Polymorphism rs2014055 - MRC2 Q9UBG0 VAR_025305 p.Arg1156His Polymorphism rs2429387 - MRE11A P49959 VAR_008513 p.Asn117Ser Disease - Ataxia telangiectasia-like disorder (ATLD) [MIM:604391] MRE11A P49959 VAR_011625 p.Ser104Cys Unclassified - Cancer MRE11A P49959 VAR_011626 p.Met157Val Polymorphism - - MRE11A P49959 VAR_011627 p.Arg503His Unclassified - Cancer MRE11A P49959 VAR_011628 p.Arg572Gln Unclassified - Cancer MRE11A P49959 VAR_019288 p.Asp468Gly Polymorphism rs1805367 - MRE11A P49959 VAR_019289 p.Met698Val Polymorphism rs1805362 - MRE11A P49959 VAR_025528 p.Arg305Trp Unclassified - Ovarian cancer MRE11A P49959 VAR_036416 p.Phe237Cys Unclassified - A breast cancer sample MRE11A P49959 VAR_036417 p.His302Tyr Unclassified - A breast cancer sample MREG Q8N565 VAR_053923 p.Gly15Arg Polymorphism rs1864253 - MRGPRE Q86SM8 VAR_059325 p.Gly15Ser Polymorphism rs12295710 - MRGPRE Q86SM8 VAR_059326 p.Gly159Ser Polymorphism rs4391795 - MRGPRF Q96AM1 VAR_061220 p.Lys16Arg Polymorphism rs11544721 - MRGPRG-AS Q2M3A8 VAR_027707 p.Glu6Ala Polymorphism rs11026002 - MRGPRG-AS Q2M3A8 VAR_027708 p.Ser135Phe Polymorphism rs11026004 - MRGPRG-AS Q2M3A8 VAR_027709 p.Gly142Val Polymorphism rs12280457 - MRGPRX1 Q96LB2 VAR_019432 p.Ile36Val Polymorphism rs11024885 - MRGPRX2 Q96LB1 VAR_019433 p.Asn62Ser Polymorphism rs10833049 - MRGPRX2 Q96LB1 VAR_024739 p.Asn16His Polymorphism rs11024970 - MRGPRX2 Q96LB1 VAR_024740 p.Phe78Leu Polymorphism - - MRGPRX2 Q96LB1 VAR_049418 p.Val43Ile Polymorphism rs11823569 - MRGPRX3 Q96LB0 VAR_019434 p.Asn169Asp Polymorphism rs4274188 - MRGPRX3 Q96LB0 VAR_025507 p.Cys82Arg Polymorphism rs12291017 - MRGPRX4 Q96LA9 VAR_019435 p.Phe8Leu Polymorphism rs2468774 - MRGPRX4 Q96LA9 VAR_019436 p.Asn25Lys Polymorphism rs2445180 - MRGPRX4 Q96LA9 VAR_019437 p.Tyr54Cys Polymorphism rs1869788 - MRGPRX4 Q96LA9 VAR_019438 p.Leu83Ser Polymorphism rs2445179 - MRGPRX4 Q96LA9 VAR_025506 p.Ala182Val Polymorphism rs11024532 - MRGPRX4 Q96LA9 VAR_049419 p.Asn245Ser Polymorphism rs7102322 - MRI1 Q9BV20 VAR_059253 p.Met235Val Polymorphism rs35098252 - MRI1 Q9BV20 VAR_059254 p.Gly319Ala Polymorphism rs10402855 - MRI Q9BWK5 VAR_039320 p.Pro82Leu Unclassified - A colorectal cancer sample MRM1 Q6IN84 VAR_061906 p.Pro98Ser Polymorphism rs60978234 - MROH1 Q8NDA8 VAR_062166 p.Ala38Val Polymorphism rs34819224 - MROH2A A6NES4 VAR_046073 p.Asp41Ala Polymorphism rs6431631 - MROH2A A6NES4 VAR_046074 p.His301Tyr Polymorphism rs1500481 - MROH2A A6NES4 VAR_046075 p.Gly359Glu Polymorphism rs2361503 - MROH2A A6NES4 VAR_046076 p.Lys519Asn Polymorphism rs11563246 - MROH2A A6NES4 VAR_046077 p.Arg1008Trp Polymorphism rs726016 - MROH2A A6NES4 VAR_046078 p.Gln1071Glu Polymorphism rs719418 - MROH2A A6NES4 VAR_046079 p.Ser1105Ile Polymorphism rs17864722 - MROH2A A6NES4 VAR_046080 p.Phe1137Ser Polymorphism rs1500480 - MROH2A A6NES4 VAR_046081 p.Arg1171Cys Polymorphism rs28900688 - MROH2A A6NES4 VAR_046082 p.Val1214Met Polymorphism rs6734083 - MROH2A A6NES4 VAR_046083 p.Val1402Met Polymorphism rs17868361 - MROH2A A6NES4 VAR_046084 p.Met1405Val Polymorphism rs11676792 - MROH2A A6NES4 VAR_046085 p.Ala1442Thr Polymorphism rs28900693 - MROH2A A6NES4 VAR_046086 p.Thr1486Ala Polymorphism rs28900694 - MROH2A A6NES4 VAR_046087 p.Met1569Val Polymorphism rs11563074 - MROH2A A6NES4 VAR_046088 p.Phe1578Leu Polymorphism rs28900700 - MROH2A A6NES4 VAR_046089 p.Ala1594Thr Polymorphism rs879665 - MROH2A A6NES4 VAR_046090 p.Val1601Ile Polymorphism rs879664 - MROH2A A6NES4 VAR_046091 p.Pro1675Leu Polymorphism rs2270856 - MROH2B Q7Z745 VAR_042983 p.Met11Val Polymorphism rs13174484 - MROH2B Q7Z745 VAR_042984 p.Trp191Arg Polymorphism rs865093 - MROH2B Q7Z745 VAR_042985 p.Leu263Ile Polymorphism rs10045243 - MROH2B Q7Z745 VAR_042986 p.Glu468Val Polymorphism rs17198125 - MROH2B Q7Z745 VAR_042987 p.Val496Ile Polymorphism rs325864 - MROH2B Q7Z745 VAR_042988 p.Arg526His Polymorphism rs13173930 - MROH2B Q7Z745 VAR_042989 p.Lys617Asn Polymorphism rs17854768 - MROH2B Q7Z745 VAR_042990 p.Asp648Val Polymorphism rs16870720 - MROH2B Q7Z745 VAR_042991 p.Met781Val Polymorphism rs10067611 - MROH2B Q7Z745 VAR_042992 p.Asn918Lys Polymorphism rs10054110 - MROH2B Q7Z745 VAR_042993 p.Leu1179Pro Polymorphism rs2271704 - MROH6 A6NGR9 VAR_039305 p.His97Gln Polymorphism rs4873803 - MROH6 A6NGR9 VAR_039306 p.Val132Ala Polymorphism rs4874153 - MROH6 A6NGR9 VAR_039307 p.Thr134Ile Polymorphism rs10866911 - MROH6 A6NGR9 VAR_061595 p.Ala619Thr Polymorphism rs13255489 - MROH7 Q68CQ1 VAR_032218 p.His182Arg Polymorphism rs11206407 - MROH7 Q68CQ1 VAR_032219 p.Val290Met Polymorphism rs12094920 - MROH7 Q68CQ1 VAR_032220 p.Tyr306Asp Polymorphism rs1655519 - MROH7 Q68CQ1 VAR_032221 p.Ser312Phe Polymorphism rs17399810 - MROH7 Q68CQ1 VAR_032222 p.Glu316Gly Polymorphism rs1655518 - MROH7 Q68CQ1 VAR_032223 p.Thr352Met Polymorphism rs12074499 - MROH7 Q68CQ1 VAR_035495 p.Ser183Tyr Unclassified - A breast cancer sample MROH7 Q68CQ1 VAR_055042 p.Lys455Arg Polymorphism rs2304314 - MROH7 Q68CQ1 VAR_055043 p.Val509Ala Polymorphism rs480963 - MROH7 Q68CQ1 VAR_055044 p.His618Arg Polymorphism rs570218 - MROH9 Q5TGP6 VAR_031903 p.Asn29Ser Polymorphism rs17563089 - MROH9 Q5TGP6 VAR_031904 p.Val74Ala Polymorphism rs2294740 - MROH9 Q5TGP6 VAR_031905 p.Tyr160His Polymorphism rs16863872 - MRO Q9BYG7 VAR_027261 p.Arg39Ser Polymorphism rs4940019 - MRO Q9BYG7 VAR_027262 p.Thr134Ala Polymorphism rs2849233 - MRPL10 Q7Z7H8 VAR_030078 p.Val125Ile Polymorphism rs16948568 - MRPL12 P52815 VAR_052001 p.Ser105Pro Polymorphism rs11546280 - MRPL16 Q9NX20 VAR_052006 p.Gly29Ser Polymorphism rs7122468 - MRPL16 Q9NX20 VAR_052007 p.Arg199Gln Polymorphism rs12787462 - MRPL16 Q9NX20 VAR_052008 p.Arg207Cys Polymorphism rs491671 - MRPL18 Q9H0U6 VAR_024609 p.Arg6Gln Polymorphism rs1128670 - MRPL1 Q9BYD6 VAR_027865 p.Thr47Lys Polymorphism rs17851275 - MRPL1 Q9BYD6 VAR_027866 p.Phe177Ser Polymorphism rs17855456 - MRPL22 Q9NWU5 VAR_029471 p.Gly154Ser Polymorphism rs3749671 - MRPL23 Q16540 VAR_057197 p.Arg11Gln Polymorphism rs34134444 - MRPL23 Q16540 VAR_057198 p.Gly32Ser Polymorphism rs2240197 - MRPL23 Q16540 VAR_057199 p.Ala34Val Polymorphism rs6512 - MRPL23 Q16540 VAR_057200 p.Asp81Asn Polymorphism rs4930142 - MRPL23 Q16540 VAR_057201 p.Ala122Thr Polymorphism rs12812 - MRPL27 Q9P0M9 VAR_052023 p.Thr24Ala Polymorphism rs17776919 - MRPL28 Q13084 VAR_052024 p.Asp160Glu Polymorphism rs11557302 - MRPL28 Q13084 VAR_054219 p.His27Tyr Polymorphism rs3194151 - MRPL28 Q13084 VAR_061806 p.Tyr230Cys Polymorphism rs13226 - MRPL2 Q5T653 VAR_029470 p.Ser300Phe Polymorphism rs10456521 - MRPL30 Q8TCC3 VAR_034462 p.Ala130Thr Polymorphism rs1044575 - MRPL35 Q9NZE8 VAR_030010 p.Pro19Ser Polymorphism rs12714176 - MRPL35 Q9NZE8 VAR_034463 p.Ala80Pro Polymorphism rs34044771 - MRPL35 Q9NZE8 VAR_051803 p.Pro81Leu Polymorphism rs3192352 - MRPL35 Q9NZE8 VAR_054632 p.Ala24Thr Polymorphism rs17851803 - MRPL35 Q9NZE8 VAR_054633 p.Arg29His Polymorphism rs1051949 - MRPL35 Q9NZE8 VAR_054634 p.Tyr180Cys Polymorphism rs1052065 - MRPL37 Q9BZE1 VAR_025269 p.Leu322Val Polymorphism rs2275408 - MRPL37 Q9BZE1 VAR_025270 p.Cys366Ser Polymorphism rs13571 - MRPL38 Q96DV4 VAR_029472 p.Asp371His Polymorphism rs9191 - MRPL38 Q96DV4 VAR_059808 p.Arg99Trp Polymorphism rs34136221 - MRPL39 Q9NYK5 VAR_052041 p.Ser31Pro Polymorphism rs3989369 - MRPL3 P09001 VAR_020108 p.Met261Thr Polymorphism rs2291381 - MRPL40 Q9NQ50 VAR_016088 p.Arg129His Polymorphism rs7575 - MRPL40 Q9NQ50 VAR_061809 p.Leu11Pro Polymorphism rs1128399 - MRPL44 Q9H9J2 VAR_034464 p.Thr138Ile Polymorphism rs11546406 - MRPL45 Q9BRJ2 VAR_061810 p.Gly298Val Polymorphism rs34749623 - MRPL46 Q9H2W6 VAR_052046 p.His106Tyr Polymorphism rs16941888 - MRPL47 Q9HD33 VAR_052042 p.Cys10Gly Polymorphism rs2339844 - MRPL47 Q9HD33 VAR_052043 p.Arg213His Polymorphism rs10513762 - MRPL48 Q96GC5 VAR_029473 p.Glu6Gly Polymorphism rs17850551 - MRPL49 Q13405 VAR_021991 p.Thr9Ala Polymorphism rs17146691 - MRPL50 Q8N5N7 VAR_029474 p.Leu127Phe Polymorphism rs8131 - MRPL51 Q4U2R6 VAR_030079 p.Met102Ile Polymorphism rs9526 - MRPL52 Q86TS9 VAR_030080 p.Gly5Val Polymorphism rs1135641 - MRPL52 Q86TS9 VAR_030081 p.Val19Ala Polymorphism rs4982685 - MRPL52 Q86TS9 VAR_052044 p.Lys104Arg Polymorphism rs11538931 - MRPL53 Q96EL3 VAR_029475 p.Ala4Ser Polymorphism rs1047911 - MRPL55 Q7Z7F7 VAR_030082 p.Arg24Cys Polymorphism rs822730 - MRPL55 Q7Z7F7 VAR_052045 p.Arg42His Polymorphism rs35265990 - MRPL9 Q9BYD2 VAR_028136 p.Glu67Gly Polymorphism rs7007 - MRPL9 Q9BYD2 VAR_028137 p.Glu210Ala Polymorphism rs8480 - MRPS11 P82912 VAR_052054 p.Arg10Trp Polymorphism rs16941904 - MRPS11 P82912 VAR_052055 p.Gln51His Polymorphism rs16941907 - MRPS12 O15235 VAR_051820 p.His8Arg Polymorphism rs33988199 - MRPS16 Q9Y3D3 VAR_031525 p.Tyr12His Polymorphism rs7905009 - MRPS18B Q9Y676 VAR_052056 p.Pro230Ala Polymorphism rs34315095 - MRPS21 P82921 VAR_024610 p.Arg51Gln Polymorphism rs4845 - MRPS21 P82921 VAR_051825 p.Arg50Cys Polymorphism rs10480 - MRPS22 P82650 VAR_042733 p.Arg170His Disease - Combined oxidative phosphorylation deficiency type 5 (COXPD5) [MIM:611719] MRPS24 Q96EL2 VAR_030077 p.Trp97Arg Polymorphism rs670573 - MRPS27 Q92552 VAR_047026 p.Gly284Asp Polymorphism rs3209157 - MRPS28 Q9Y2Q9 VAR_052047 p.Arg103Trp Polymorphism rs16919579 - MRPS2 Q9Y399 VAR_020128 p.His294Arg Polymorphism rs3748199 - MRPS2 Q9Y399 VAR_034479 p.Asp112Gly Polymorphism rs35140806 - MRPS2 Q9Y399 VAR_034480 p.Met158Val Polymorphism rs35293407 - MRPS30 Q9NP92 VAR_028023 p.Cys33Ser Polymorphism rs3747479 - MRPS30 Q9NP92 VAR_052048 p.Ala102Val Polymorphism rs35601455 - MRPS31 Q92665 VAR_052049 p.Thr241Met Polymorphism rs1854421 - MRPS31 Q92665 VAR_061812 p.Asp279Asn Polymorphism rs13508 - MRPS34 P82930 VAR_052050 p.Leu33Ile Polymorphism rs11552431 - MRPS35 P82673 VAR_052051 p.Leu6Ile Polymorphism rs35475802 - MRPS7 Q9Y2R9 VAR_030076 p.Ala2Val Polymorphism rs8075276 - MRPS9 P82933 VAR_047902 p.Ser13Leu Polymorphism rs13399067 - MRRF Q96E11 VAR_051885 p.Met216Val Polymorphism rs2297483 - MRS2 Q9HD23 VAR_023782 p.Pro35Ser Polymorphism rs2295651 - MRS2 Q9HD23 VAR_061129 p.Pro412Ser Polymorphism rs35261004 - MRVI1 Q9Y6F6 VAR_056942 p.Ile11Val Polymorphism rs4909945 - MRVI1 Q9Y6F6 VAR_056943 p.Ala28Thr Polymorphism rs34302310 - MRVI1 Q9Y6F6 VAR_056944 p.Ala70Thr Polymorphism rs2162044 - MRVI1 Q9Y6F6 VAR_056945 p.Pro186Ser Polymorphism rs35857561 - MRVI1 Q9Y6F6 VAR_056946 p.Gln270His Polymorphism rs34398944 - MRVI1 Q9Y6F6 VAR_058298 p.Gln334His Polymorphism rs34398944 - MS4A10 Q96PG2 VAR_057652 p.Pro219Leu Polymorphism rs12419635 - MS4A12 Q9NXJ0 VAR_057653 p.Ala10Asp Polymorphism rs12788393 - MS4A13 Q5J8X5 VAR_057654 p.Pro58Leu Polymorphism rs6591595 - MS4A13 Q5J8X5 VAR_062124 p.Gly3Asp Polymorphism rs55756397 - MS4A13 Q5J8X5 VAR_062125 p.Ile7Val Polymorphism rs10736706 - MS4A14 Q96JA4 VAR_039330 p.Asn177Tyr Polymorphism rs7131283 - MS4A14 Q96JA4 VAR_039331 p.Gly584Arg Polymorphism rs3825020 - MS4A15 Q8N5U1 VAR_053524 p.Ser20Gly Polymorphism rs12363342 - MS4A15 Q8N5U1 VAR_053525 p.Leu47Arg Polymorphism rs1032939 - MS4A2 Q01362 VAR_003965 p.Glu237Gly Polymorphism rs569108 - MS4A2 Q01362 VAR_053515 p.Thr143Met Polymorphism rs35033981 - MS4A2 Q01362 VAR_053516 p.Asn211Lys Polymorphism rs535630 - MS4A4A Q96JQ5 VAR_024540 p.Met178Val Polymorphism rs6591561 - MS4A4A Q96JQ5 VAR_053517 p.Lys52Glu Polymorphism rs10750931 - MS4A4A Q96JQ5 VAR_062123 p.Leu191Ile Polymorphism rs4644658 - MS4A5 Q9H3V2 VAR_036402 p.Leu123Arg Unclassified - A colorectal cancer sample MS4A6A Q9H2W1 VAR_015652 p.Ala183Ser Polymorphism - - MS4A6A Q9H2W1 VAR_015653 p.Thr185Ser Polymorphism rs7232 - MS4A6E Q96DS6 VAR_015654 p.Val47Phe Polymorphism rs2304933 - MS4A6E Q96DS6 VAR_053518 p.Ile6Val Polymorphism rs2304935 - MS4A6E Q96DS6 VAR_053519 p.Thr10Ala Polymorphism rs2304934 - MS4A7 Q9GZW8 VAR_053520 p.Glu34Lys Polymorphism rs2233241 - MS4A7 Q9GZW8 VAR_053521 p.Pro112His Polymorphism rs2233249 - MS4A7 Q9GZW8 VAR_053522 p.Ser157Phe Polymorphism rs2233251 - MS4A8B Q9BY19 VAR_053523 p.Val95Leu Polymorphism rs35956659 - MSGN1 A6NI15 VAR_061259 p.Glu80Asp Polymorphism rs34069439 - MSGN1 A6NI15 VAR_061260 p.His104Tyr Polymorphism rs35858730 - MSH2 P43246 VAR_004470 p.His46Gln Disease rs33946261 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004471 p.Arg96His Polymorphism - - MSH2 P43246 VAR_004472 p.Asn139Ser Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004473 p.Ile145Met Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004474 p.Asp167His Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004476 p.Ala305Thr Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004477 p.Gly322Asp Polymorphism rs4987188 - MSH2 P43246 VAR_004478 p.Leu390Phe Unclassified rs17224367 - MSH2 P43246 VAR_004479 p.Arg524Pro Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004480 p.Glu562Val Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004482 p.Pro622Leu Disease rs28929483 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004483 p.His639Tyr Disease rs28929484 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004484 p.Cys641Gly Polymorphism - - MSH2 P43246 VAR_004485 p.Gly674Ser Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004486 p.Cys697Phe Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004487 p.Ile770Val Polymorphism - - MSH2 P43246 VAR_004488 p.Ala834Thr Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_004489 p.Thr905Arg Unclassified - - MSH2 P43246 VAR_009250 p.Gly692Arg Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_009251 p.Cys697Arg Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_012936 p.Val161Asp Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_012937 p.Cys199Arg Unclassified - Glioma MSH2 P43246 VAR_012938 p.Ile216Val Unclassified - - MSH2 P43246 VAR_012939 p.Ser323Cys Unclassified - - MSH2 P43246 VAR_012940 p.Gln419Lys Unclassified - - MSH2 P43246 VAR_012941 p.Asp506Tyr Unclassified - - MSH2 P43246 VAR_012942 p.Ser554Arg Unclassified - - MSH2 P43246 VAR_012943 p.Asn596Ser Unclassified rs41295288 - MSH2 P43246 VAR_012944 p.Ala636Pro Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_012945 p.Met688Ile Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_013171 p.Thr8Met Polymorphism rs17217716 - MSH2 P43246 VAR_013172 p.Lys845Glu Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_019233 p.Tyr43Cys Polymorphism rs17217723 - MSH2 P43246 VAR_019234 p.Asn127Ser Disease rs17217772 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_022670 p.Val163Gly Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_022671 p.Asp660Gly Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_038026 p.Arg106Lys Polymorphism rs41295286 - MSH2 P43246 VAR_038027 p.Pro670Leu Polymorphism rs41294982 - MSH2 P43246 VAR_038028 p.Met779Ile Polymorphism rs41295292 - MSH2 P43246 VAR_038029 p.Thr807Ser Polymorphism rs41295294 - MSH2 P43246 VAR_038030 p.Asn835His Polymorphism rs41295296 - MSH2 P43246 VAR_038031 p.Leu911Arg Polymorphism rs41295182 - MSH2 P43246 VAR_043736 p.Ser13Ile Unclassified - Colorectal cancer MSH2 P43246 VAR_043737 p.Val17Phe Unclassified - Gastric cancer MSH2 P43246 VAR_043738 p.Thr33Pro Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043739 p.Gly40Ser Unclassified - - MSH2 P43246 VAR_043740 p.Thr44Met Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043741 p.Ala45Val Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043743 p.Leu93Phe Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043744 p.Tyr98Cys Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043745 p.Val102Ile Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043746 p.Lys110Thr Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043747 p.Gly162Arg Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043748 p.Val163Asp Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043749 p.Gly164Arg Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043750 p.Ile169Val Unclassified - - MSH2 P43246 VAR_043751 p.Leu173Pro Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043752 p.Leu175Pro Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043753 p.Leu187Pro Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043754 p.Gly203Arg Unclassified - - MSH2 P43246 VAR_043755 p.Lys246Gln Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043756 p.Ala272Val Unclassified rs34136999 - MSH2 P43246 VAR_043757 p.Asp283Tyr Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043758 p.Ser323Tyr Unclassified - - MSH2 P43246 VAR_043759 p.Cys333Tyr Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043760 p.Thr335Ile Unclassified - - MSH2 P43246 VAR_043761 p.Pro336Ser Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043762 p.Val342Ile Unclassified - Colorectal cancer MSH2 P43246 VAR_043763 p.Pro349Leu Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043764 p.Arg359Ser Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043765 p.Lys393Met Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043767 p.Met492Val Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043768 p.Thr552Pro Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043769 p.Thr564Ala Disease rs55778204 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043770 p.Asn583Ser Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043771 p.Ala600Val Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043772 p.Asp603Asn Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043773 p.Tyr619Cys Unclassified - - MSH2 P43246 VAR_043774 p.Gln629Arg Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043775 p.His639Arg Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043776 p.Glu647Lys Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043777 p.Tyr656His Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043778 p.Asn671Tyr Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043779 p.Ile679Thr Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043780 p.Ala714Val Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043781 p.Ser723Phe Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043782 p.Met729Val Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043783 p.Thr732Ile Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043785 p.Glu749Lys Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043786 p.Met813Val Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043787 p.Gln824Glu Unclassified - Gastric cancer MSH2 P43246 VAR_043788 p.His839Arg Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043789 p.Glu853Ala Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043790 p.Pro868Ala Unclassified - Gastric cancer MSH2 P43246 VAR_043791 p.Ala870Gly Unclassified - Gastric cancer MSH2 P43246 VAR_043792 p.Cys873Gly Unclassified - Gastric cancer MSH2 P43246 VAR_043793 p.Glu886Gly Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_043794 p.Val923Glu Unclassified - - MSH2 P43246 VAR_043795 p.Lys931Thr Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_054511 p.Ala2Thr Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_054512 p.Gly162Ala Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_054513 p.Glu198Gly Disease - Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] MSH2 P43246 VAR_054514 p.Asn331Asp Unclassified - - MSH2 P43246 VAR_054515 p.Val470Glu Unclassified - - MSH2 P43246 VAR_054516 p.His610Asn Unclassified - - MSH2 P43246 VAR_054517 p.Arg638Gly Unclassified - - MSH2 P43246 VAR_054518 p.Gln645Glu Unclassified - - MSH2 P43246 VAR_054519 p.Pro696Leu Unclassified - - MSH2 P43246 VAR_054520 p.Asp748Tyr Unclassified - - MSH2 P43246 VAR_054521 p.His839Gln Unclassified - - MSH3 P20585 VAR_016160 p.Phe709Leu Polymorphism rs1805354 - MSH3 P20585 VAR_016161 p.Gln949Arg Polymorphism rs184967 - MSH3 P20585 VAR_016162 p.Ala1045Thr Polymorphism rs26279 - MSH3 P20585 VAR_016163 p.Thr1054Ala Polymorphism rs1805131 - MSH3 P20585 VAR_020936 p.Ile79Val Polymorphism rs1650697 - MSH3 P20585 VAR_055251 p.Tyr789Phe Polymorphism rs10067975 - MSH4 O15457 VAR_018831 p.Ala60Val Polymorphism rs5745311 - MSH4 O15457 VAR_018832 p.Ala90Thr Polymorphism rs5745324 - MSH4 O15457 VAR_018833 p.Ala97Thr Polymorphism rs5745325 - MSH4 O15457 VAR_018834 p.Glu162Lys Polymorphism rs5745329 - MSH4 O15457 VAR_018835 p.Tyr589Cys Polymorphism rs5745459 - MSH4 O15457 VAR_018836 p.Ser914Asn Polymorphism rs5745549 - MSH5 O43196 VAR_025082 p.Pro29Ser Polymorphism rs2075789 - MSH5 O43196 VAR_025083 p.Leu85Phe Polymorphism rs28381349 - MSH5 O43196 VAR_025084 p.Tyr202Cys Polymorphism rs28381358 - MSH5 O43196 VAR_025085 p.Val206Phe Polymorphism rs28381359 - MSH5 O43196 VAR_025086 p.Arg351Gly Polymorphism rs28399976 - MSH5 O43196 VAR_025087 p.Leu377Phe Polymorphism rs28399977 - MSH5 O43196 VAR_025088 p.Pro786Ser Polymorphism rs1802127 - MSH6 P52701 VAR_004490 p.Gly39Glu Polymorphism rs1042821 - MSH6 P52701 VAR_004491 p.Asp1213Val Polymorphism - - MSH6 P52701 VAR_004492 p.Val1260Ile Polymorphism - - MSH6 P52701 VAR_012955 p.Ser144Ile Polymorphism rs3211299 - MSH6 P52701 VAR_012956 p.Glu220Asp Polymorphism rs1800938 - MSH6 P52701 VAR_012957 p.Ser285Ile Unclassified - - MSH6 P52701 VAR_012958 p.Leu396Val Unclassified rs2020908 - MSH6 P52701 VAR_012959 p.Gly566Arg Unclassified - - MSH6 P52701 VAR_012960 p.Gln698Glu Unclassified - - MSH6 P52701 VAR_012961 p.Val800Leu Polymorphism - - MSH6 P52701 VAR_012962 p.Asp803Gly Unclassified - - MSH6 P52701 VAR_012963 p.Tyr850Cys Unclassified - - MSH6 P52701 VAR_012964 p.Val878Ala Unclassified rs2020912 Colorectal/endometrial cancer MSH6 P52701 VAR_012965 p.Arg976His Unclassified - - MSH6 P52701 VAR_012966 p.Pro1087Thr Unclassified - - MSH6 P52701 VAR_014902 p.Ile886Val Polymorphism rs2020914 - MSH6 P52701 VAR_029244 p.Pro623Ala Polymorphism rs3136334 - MSH6 P52701 VAR_038032 p.Lys13Thr Polymorphism rs41294988 - MSH6 P52701 VAR_038033 p.Ala25Val Polymorphism rs35462442 - MSH6 P52701 VAR_038034 p.Ser65Leu Polymorphism rs41294984 - MSH6 P52701 VAR_038035 p.Arg468His Polymorphism rs41295268 - MSH6 P52701 VAR_038036 p.Ser503Cys Unclassified - - MSH6 P52701 VAR_038037 p.Tyr538Ser Polymorphism rs728619 - MSH6 P52701 VAR_038038 p.Ser580Leu Polymorphism rs41295270 - MSH6 P52701 VAR_038039 p.Val1232Leu Polymorphism rs41295276 - MSH6 P52701 VAR_038040 p.Glu1234Gln Polymorphism rs35717727 - MSH6 P52701 VAR_038041 p.Arg1321Gly Polymorphism rs41295278 - MSH6 P52701 VAR_042274 p.Glu221Asp Polymorphism rs41557217 - MSH6 P52701 VAR_042275 p.Met492Val Unclassified - - MSH6 P52701 VAR_043943 p.Ala20Val Unclassified - Colorectal/endometrial cancer MSH6 P52701 VAR_043943 p.Ala20Val Disease - Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:614350] MSH6 P52701 VAR_043944 p.Gly54Ala Unclassified - - MSH6 P52701 VAR_043945 p.Lys99Asn Unclassified - - MSH6 P52701 VAR_043946 p.Arg128Leu Unclassified - - MSH6 P52701 VAR_043947 p.Lys295Arg Unclassified - - MSH6 P52701 VAR_043948 p.Phe340Ser Unclassified - Breast cancer MSH6 P52701 VAR_043949 p.Leu449Pro Unclassified - Colorectal/endometrial cancer MSH6 P52701 VAR_043950 p.Val509Ala Polymorphism - - MSH6 P52701 VAR_043951 p.Gln522Arg Unclassified - - MSH6 P52701 VAR_043952 p.Glu619Asp Unclassified - - MSH6 P52701 VAR_043953 p.Pro623Leu Unclassified - - MSH6 P52701 VAR_043954 p.Gly685Ala Unclassified - - MSH6 P52701 VAR_043955 p.Ile725Met Unclassified - - MSH6 P52701 VAR_043956 p.Lys728Thr Polymorphism rs35552856 - MSH6 P52701 VAR_043957 p.Arg772Gln Unclassified - - MSH6 P52701 VAR_043958 p.Arg772Trp Disease - Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:614350] MSH6 P52701 VAR_043959 p.Ala787Val Unclassified - - MSH6 P52701 VAR_043960 p.Val800Ala Unclassified - - MSH6 P52701 VAR_043961 p.Lys854Met Unclassified rs34374438 - MSH6 P52701 VAR_043962 p.Arg901His Unclassified - Colorectal/endometrial cancer MSH6 P52701 VAR_043963 p.Ala1021Asp Unclassified - - MSH6 P52701 VAR_043964 p.Asp1031Val Unclassified - - MSH6 P52701 VAR_043965 p.Arg1076Cys Unclassified - - MSH6 P52701 VAR_043966 p.Arg1095His Unclassified - - MSH6 P52701 VAR_043967 p.Thr1100Met Unclassified - - MSH6 P52701 VAR_043968 p.Cys1158Arg Unclassified - - MSH6 P52701 VAR_043969 p.Glu1163Val Disease - Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:614350] MSH6 P52701 VAR_043970 p.Glu1193Lys Unclassified - - MSH6 P52701 VAR_043971 p.Thr1219Ile Unclassified - - MSH6 P52701 VAR_043972 p.His1248Asp Unclassified - - MSH6 P52701 VAR_043973 p.Thr1284Met Unclassified - - MSH6 P52701 VAR_043974 p.Leu1354Gln Unclassified - - MSI1 O43347 VAR_035485 p.Glu160Gln Unclassified - A breast cancer sample MSL3P1 P0C860 VAR_046119 p.Asn47Asp Polymorphism rs1131804 - MSL3P1 P0C860 VAR_046120 p.Leu99Ile Polymorphism rs16849902 - MSL3P1 P0C860 VAR_046121 p.Ser145Asn Polymorphism rs1051597 - MSL3P1 P0C860 VAR_046122 p.Ala147Asp Polymorphism rs213544 - MSL3P1 P0C860 VAR_046123 p.Pro257Ser Polymorphism rs13384181 - MSL3P1 P0C860 VAR_046124 p.Lys316Glu Polymorphism rs28900724 - MSL3 Q8N5Y2 VAR_048732 p.Lys199Gln Polymorphism rs1051595 - MSL3 Q8N5Y2 VAR_048733 p.Val251Ile Polymorphism rs1051600 - MSLNL Q96KJ4 VAR_039256 p.Ala139Thr Polymorphism rs12599363 - MSLNL Q96KJ4 VAR_039257 p.Asp463Val Polymorphism rs12599363 - MSLNL Q96KJ4 VAR_039258 p.Ser597Gly Polymorphism rs9746539 - MSLN Q13421 VAR_028381 p.Ala72Val Polymorphism rs9927389 - MSLN Q13421 VAR_028382 p.Arg309Pro Polymorphism rs17850474 - MSLN Q13421 VAR_028383 p.Met601Val Polymorphism rs1135210 - MSLN Q13421 VAR_054012 p.Gly497Glu Polymorphism rs35935235 - MSMB P08118 VAR_011935 p.Leu17Ser Polymorphism rs1804776 - MSMB P08118 VAR_011936 p.Ile25Met Polymorphism rs1804778 - MSMB P08118 VAR_011937 p.Trp52Arg Polymorphism rs1804780 - MSMB P08118 VAR_011938 p.Gln53Arg Polymorphism rs1804468 - MSMB P08118 VAR_011939 p.Asp80Ala Polymorphism rs1802774 - MSMB P08118 VAR_011940 p.Ile87Thr Polymorphism rs1802771 - MSMB P08118 VAR_011941 p.Glu91Gly Polymorphism rs1804469 - MSMB P08118 VAR_011942 p.Asp92Gly Polymorphism rs1804461 - MSMB P08118 VAR_011943 p.Val98Leu Polymorphism rs1804464 - MSMO1 Q15800 VAR_048898 p.Asn124Ser Polymorphism rs34499452 - MSMP Q1L6U9 VAR_043818 p.Gly116Val Polymorphism rs3750436 - MSR1 P21757 VAR_025190 p.Phe23Cys Polymorphism rs35175081 - MSR1 P21757 VAR_025191 p.Pro275Ala Polymorphism rs3747531 - MSR1 P21757 VAR_052061 p.Thr269Ile Polymorphism rs13306543 - MSRB2 Q9Y3D2 VAR_050448 p.Glu46Gly Polymorphism rs2296466 - MSRB3 Q8IXL7 VAR_064904 p.Cys89Gly Disease - Deafness autosomal recessive type 74 (DFNB74) [MIM:613718] MSS51 Q4VC12 VAR_052993 p.Leu417Pro Polymorphism rs11591720 - MST1 P26927 VAR_006631 p.Cys13Tyr Polymorphism - - MST1 P26927 VAR_006632 p.Cys212Phe Polymorphism - - MST1 P26927 VAR_014569 p.Glu676Lys Polymorphism rs7798 - MST1 P26927 VAR_059787 p.Ser551Gly Polymorphism rs6791037 - MST1R Q04912 VAR_006350 p.Arg322Gln Polymorphism rs2230593 - MST1R Q04912 VAR_024577 p.Arg1335Gly Polymorphism rs1062633 - MST1R Q04912 VAR_029238 p.Ser434Leu Polymorphism rs2230591 - MST1R Q04912 VAR_029239 p.Asn440Ser Polymorphism rs2230592 - MST1R Q04912 VAR_041768 p.Arg75Ser Polymorphism rs35887539 - MST1R Q04912 VAR_041769 p.Pro95Thr Polymorphism rs55908300 - MST1R Q04912 VAR_041770 p.Arg185Cys Polymorphism rs55633379 - MST1R Q04912 VAR_041771 p.Gly356Asp Polymorphism rs35924402 - MST1R Q04912 VAR_041772 p.Gly465Asp Polymorphism rs34564898 - MST1R Q04912 VAR_041773 p.Arg504Cys Polymorphism rs34350470 - MST1R Q04912 VAR_041774 p.Gln523Arg Polymorphism rs2230590 - MST1R Q04912 VAR_041775 p.Gln613Pro Polymorphism rs35986685 - MST1R Q04912 VAR_041776 p.Val900Met Polymorphism rs56091918 - MST1R Q04912 VAR_041777 p.Arg1304Gly Polymorphism - - MST1R Q04912 VAR_041778 p.Tyr1360Cys Polymorphism rs56330223 - MST1R Q04912 VAR_061749 p.Ser1195Gly Polymorphism rs7433231 - MST4 Q9P289 VAR_040844 p.Gln9Arg Polymorphism rs56035648 - MST4 Q9P289 VAR_040845 p.Gly36Trp Unclassified - A gastric adenocarcinoma sample MST4 Q9P289 VAR_040846 p.Arg45Cys Polymorphism rs56044451 - MSTN O14793 VAR_014475 p.Ala55Thr Polymorphism rs1805085 - MSTN O14793 VAR_014476 p.Lys153Arg Polymorphism rs1805086 - MSTN O14793 VAR_052575 p.Ile348Thr Polymorphism rs34780010 - MSTN O14793 VAR_052576 p.Arg371Gly Polymorphism rs16823988 - MSTO1 Q9BUK6 VAR_035046 p.Thr324Ile Polymorphism rs622288 - MSX1 P28360 VAR_003754 p.Arg196Pro Disease - Tooth agenesis selective type 1 (STHAG1) [MIM:106600] MSX1 P28360 VAR_015712 p.Met61Lys Disease - Tooth agenesis selective type 1 (STHAG1) [MIM:106600] MSX1 P28360 VAR_018391 p.Glu78Val Disease - Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] MSX1 P28360 VAR_018392 p.Gly91Asp Disease - Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] MSX1 P28360 VAR_018393 p.Val114Gly Disease - Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] MSX1 P28360 VAR_018394 p.Gly116Glu Disease rs28933081 Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] MSX1 P28360 VAR_018395 p.Arg151Ser Disease - Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] MSX2 P35548 VAR_003755 p.Pro148His Disease - Craniosynostosis type 2 (CRS2) [MIM:604757] MSX2 P35548 VAR_010201 p.Arg172His Disease - Parietal foramina 1 (PFM1) [MIM:168500] MSX2 P35548 VAR_010786 p.Leu154Pro Disease - Parietal foramina 1 (PFM1) [MIM:168500] MSX2 P35548 VAR_010898 p.Met129Thr Polymorphism rs4242182 - MT1A P04731 VAR_059436 p.Lys51Arg Polymorphism rs8052394 - MT1A P04731 VAR_060727 p.Thr27Asn Polymorphism rs11640851 - MT1M Q8N339 VAR_025310 p.Thr20Lys Polymorphism rs1827210 - MT2A P02795 VAR_025840 p.Ala42Val Polymorphism rs35109646 - MT4 P47944 VAR_034110 p.Tyr30Cys Polymorphism rs666636 - MT4 P47944 VAR_034111 p.Trp31Arg Polymorphism rs666647 - MT4 P47944 VAR_034112 p.Gly48Asp Polymorphism rs11643815 - MTA1 Q13330 VAR_055847 p.Val372Ile Polymorphism rs4983413 - MTA1 Q13330 VAR_058965 p.Ala612Thr Polymorphism rs13707 - MTAP Q13126 VAR_031470 p.Val56Ile Polymorphism rs7023954 - MT-ATP6 P00846 VAR_000792 p.Thr59Ala Polymorphism - - MT-ATP6 P00846 VAR_000793 p.Leu156Arg Disease - Leigh syndrome (LS) [MIM:256000] MT-ATP6 P00846 VAR_000793 p.Leu156Arg Disease - Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) [MIM:551500] MT-ATP6 P00846 VAR_000794 p.Leu156Pro Disease - Leigh syndrome (LS) [MIM:256000] MT-ATP6 P00846 VAR_000795 p.Ile192Thr Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ATP6 P00846 VAR_000796 p.Val213Ile Polymorphism - - MT-ATP6 P00846 VAR_000797 p.Leu217Pro Disease - Leigh syndrome (LS) [MIM:256000] MT-ATP6 P00846 VAR_000797 p.Leu217Pro Disease - Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003] MT-ATP6 P00846 VAR_008556 p.Thr33Ser Polymorphism - - MT-ATP6 P00846 VAR_008557 p.His61Tyr Polymorphism - - MT-ATP6 P00846 VAR_008558 p.His90Tyr Polymorphism - - MT-ATP6 P00846 VAR_008559 p.Thr112Ala Polymorphism - - MT-ATP6 P00846 VAR_008560 p.Ala155Thr Polymorphism - - MT-ATP6 P00846 VAR_008561 p.Ala177Thr Polymorphism - - MT-ATP6 P00846 VAR_008562 p.Ser219Gly Polymorphism - - MT-ATP6 P00846 VAR_021178 p.Ala7Thr Polymorphism - - MT-ATP6 P00846 VAR_021179 p.Ala11Thr Polymorphism - - MT-ATP6 P00846 VAR_021180 p.Ile14Val Polymorphism - - MT-ATP6 P00846 VAR_021181 p.Gly16Ser Polymorphism - - MT-ATP6 P00846 VAR_021182 p.Leu37Pro Polymorphism - - MT-ATP6 P00846 VAR_021183 p.Thr53Ile Polymorphism - - MT-ATP6 P00846 VAR_021184 p.Met60Thr Polymorphism - - MT-ATP6 P00846 VAR_021185 p.Ala80Thr Polymorphism - - MT-ATP6 P00846 VAR_021186 p.Phe117Leu Polymorphism - - MT-ATP6 P00846 VAR_021187 p.Ile121Val Polymorphism - - MT-ATP6 P00846 VAR_021188 p.Thr133Ala Polymorphism - - MT-ATP6 P00846 VAR_021189 p.Thr178Ala Polymorphism - - MT-ATP6 P00846 VAR_021190 p.Ser182Leu Polymorphism - - MT-ATP6 P00846 VAR_021191 p.Ile192Val Polymorphism - - MT-ATP6 P00846 VAR_021192 p.Phe193Leu Polymorphism - - MT-ATP6 P00846 VAR_021193 p.Ile204Thr Polymorphism - - MT-ATP8 P03928 VAR_008563 p.Leu17Pro Polymorphism - - MT-ATP8 P03928 VAR_008564 p.Phe21Ser Polymorphism - - MT-ATP8 P03928 VAR_008565 p.Met28Thr Polymorphism - - MTCH2 Q9Y6C9 VAR_050128 p.Arg68Ser Polymorphism rs34072236 - MTCH2 Q9Y6C9 VAR_050129 p.Pro290Ala Polymorphism rs1064608 - MT-CO1 P00395 VAR_008385 p.Met273Thr Unclassified - - MT-CO1 P00395 VAR_008386 p.Ile280Thr Unclassified - - MT-CO1 P00395 VAR_008566 p.Thr10Ala Polymorphism - - MT-CO1 P00395 VAR_008567 p.Phe94Cys Polymorphism - - MT-CO1 P00395 VAR_008568 p.Val155Leu Polymorphism - - MT-CO1 P00395 VAR_008569 p.Gly224Ala Polymorphism - - MT-CO1 P00395 VAR_008570 p.Phe305Leu Polymorphism - - MT-CO1 P00395 VAR_011342 p.Phe235Ser Polymorphism - - MT-CO1 P00395 VAR_011343 p.Thr415Ala Polymorphism - - MT-CO1 P00395 VAR_033055 p.Ser142Phe Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] MT-CO1 P00395 VAR_033056 p.Leu196Ile Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] MT-CO1 P00395 VAR_064154 p.Gly125Asp Disease - Colorectal cancer (CRC) [MIM:114500] MT-CO1 P00395 VAR_064155 p.Ser458Pro Disease - Colorectal cancer (CRC) [MIM:114500] MT-CO2 P00403 VAR_008390 p.Val142Met Unclassified - Colorectal cancer MT-CO2 P00403 VAR_008571 p.Leu123Pro Polymorphism - - MT-CO2 P00403 VAR_008572 p.Thr187Met Polymorphism - - MT-CO2 P00403 VAR_008863 p.Asp11Ala Polymorphism - - MT-CO2 P00403 VAR_011344 p.Ile30Val Polymorphism - - MT-CO2 P00403 VAR_011345 p.Ala148Thr Polymorphism - - MT-CO2 P00403 VAR_035085 p.Met29Lys Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] MT-CO3 P00414 VAR_002167 p.Gly78Ser Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-CO3 P00414 VAR_002168 p.Ala200Thr Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-CO3 P00414 VAR_002169 p.Phe251Leu Unclassified - - MT-CO3 P00414 VAR_008573 p.His3Arg Polymorphism - - MT-CO3 P00414 VAR_008574 p.Phe35Ser Polymorphism - - MT-CO3 P00414 VAR_008575 p.Val91Ile Polymorphism - - MT-CO3 P00414 VAR_008576 p.Gln177Arg Polymorphism - - MT-CO3 P00414 VAR_008577 p.Val254Ile Polymorphism - - MT-CYB P00156 VAR_002197 p.Asp171Asn Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-CYB P00156 VAR_002198 p.Gly339Glu Unclassified - - MT-CYB P00156 VAR_002199 p.Val356Met Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-CYB P00156 VAR_008388 p.Arg80His Unclassified - Colorectal cancer MT-CYB P00156 VAR_008389 p.Phe276Leu Unclassified - Colorectal cancer MT-CYB P00156 VAR_008585 p.Thr7Ile Polymorphism - - MT-CYB P00156 VAR_008586 p.Ala87Pro Polymorphism - - MT-CYB P00156 VAR_011339 p.Ala191Thr Polymorphism - - MT-CYB P00156 VAR_011340 p.Thr194Ala Polymorphism - - MT-CYB P00156 VAR_011341 p.Ala229Thr Polymorphism - - MT-CYB P00156 VAR_013643 p.Asn8Ser Polymorphism - - MT-CYB P00156 VAR_013644 p.Phe18Leu Polymorphism - - MT-CYB P00156 VAR_013645 p.Gly34Ser Unclassified - - MT-CYB P00156 VAR_013646 p.Ala39Val Polymorphism - - MT-CYB P00156 VAR_013647 p.Ile78Thr Polymorphism - - MT-CYB P00156 VAR_013648 p.Ala122Thr Polymorphism - - MT-CYB P00156 VAR_013649 p.Thr123Ala Polymorphism - - MT-CYB P00156 VAR_013650 p.Ser151Pro Unclassified - - MT-CYB P00156 VAR_013651 p.Ile153Thr Polymorphism - - MT-CYB P00156 VAR_013652 p.Ile164Val Polymorphism - - MT-CYB P00156 VAR_013653 p.Gly166Glu Unclassified - - MT-CYB P00156 VAR_013655 p.Leu236Ile Polymorphism - - MT-CYB P00156 VAR_013656 p.Gly251Asp Disease - Cardiomyopathy infantile histiocytoid (CMIH) [MIM:500000] MT-CYB P00156 VAR_013658 p.Asn255His Unclassified - - MT-CYB P00156 VAR_013659 p.Tyr278Cys Unclassified - - MT-CYB P00156 VAR_013660 p.Gly290Asp Unclassified - - MT-CYB P00156 VAR_013661 p.Ile306Thr Polymorphism - - MT-CYB P00156 VAR_013662 p.Met316Thr Polymorphism - - MT-CYB P00156 VAR_013663 p.Ala329Thr Polymorphism - - MT-CYB P00156 VAR_013664 p.Ala330Thr Polymorphism - - MT-CYB P00156 VAR_013665 p.Ile334Val Polymorphism - - MT-CYB P00156 VAR_013666 p.Val353Met Polymorphism - - MT-CYB P00156 VAR_013667 p.Thr360Ala Polymorphism - - MT-CYB P00156 VAR_013668 p.Thr368Ile Polymorphism - - MT-CYB P00156 VAR_015571 p.Ala39Thr Polymorphism - - MT-CYB P00156 VAR_015572 p.Ile78Val Polymorphism - - MT-CYB P00156 VAR_015573 p.Asn260Asp Polymorphism - - MT-CYB P00156 VAR_033058 p.Ser35Pro Unclassified - - MT-CYB P00156 VAR_033059 p.Gly251Ser Unclassified - - MTDH Q86UE4 VAR_054661 p.Thr317Ala Polymorphism rs17854374 - MTERFD1 Q96E29 VAR_053786 p.Glu396Gly Polymorphism rs7461970 - MTERFD2 Q7Z6M4 VAR_028865 p.Thr45Ala Polymorphism rs3796093 - MTERFD2 Q7Z6M4 VAR_028866 p.Met189Thr Polymorphism rs2286323 - MTERFD2 Q7Z6M4 VAR_028867 p.Leu339Val Polymorphism rs2240539 - MTERFD2 Q7Z6M4 VAR_028868 p.Asp347Glu Polymorphism rs10203977 - MTERFD2 Q7Z6M4 VAR_028869 p.Asp378Glu Polymorphism rs10167328 - MTERFD3 Q49AM1 VAR_034113 p.Leu14Val Polymorphism rs34238336 - MTERFD3 Q49AM1 VAR_034114 p.Ala81Gly Polymorphism rs35548605 - MTERFD3 Q49AM1 VAR_053787 p.Ala31Val Polymorphism rs35305400 - MTERFD3 Q49AM1 VAR_053788 p.Val198Ile Polymorphism rs1043157 - MTERF Q99551 VAR_024237 p.Ala294Thr Polymorphism rs10266424 - MTERF Q99551 VAR_053785 p.Ala231Thr Polymorphism rs17856025 - MTF2 Q9Y483 VAR_054765 p.Cys140Ser Polymorphism rs2815427 - MTFMT Q96DP5 VAR_059289 p.Val5Ala Polymorphism rs2946655 - MTFR1L Q9H019 VAR_044084 p.Pro58Ser Polymorphism rs35448678 - MTG1 Q9BT17 VAR_062181 p.Ile293Val Polymorphism rs2255246 - MTHFD1L Q6UB35 VAR_044346 p.Leu444Arg Unclassified - A colorectal cancer sample MTHFD1 P11586 VAR_010241 p.Arg293His Polymorphism rs34181110 - MTHFD1 P11586 VAR_010251 p.Arg653Gln Polymorphism rs2236225 - MTHFD1 P11586 VAR_016232 p.Arg134Lys Polymorphism rs1950902 - MTHFD1 P11586 VAR_032789 p.Thr761Met Polymorphism rs10813 - MTHFD1 P11586 VAR_032790 p.Leu769Phe Polymorphism rs17857382 - MTHFD1 P11586 VAR_055458 p.Pro162Leu Polymorphism rs4902283 - MTHFR P42898 VAR_004319 p.Arg52Gln Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004320 p.Arg157Gln Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004321 p.Thr227Met Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004322 p.Pro251Leu Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004323 p.Arg325Cys Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004324 p.Arg335Cys Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_004325 p.Arg357Cys Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009528 p.Ala222Val Polymorphism rs1801133 - MTHFR P42898 VAR_009529 p.Glu428Ala Polymorphism - - MTHFR P42898 VAR_009530 p.Arg51Pro Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009531 p.Leu323Pro Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009532 p.Asn324Ser Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009533 p.Trp339Gly Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009534 p.Arg377Cys Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009535 p.Gly387Asp Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009536 p.Pro572Leu Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_009537 p.Glu586Lys Disease - Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] MTHFR P42898 VAR_014881 p.Arg68Gln Polymorphism rs2066472 - MTHFR P42898 VAR_014882 p.Glu429Ala Polymorphism rs1801131 - MTHFR P42898 VAR_018857 p.Gly422Arg Polymorphism rs45571736 - MTHFR P42898 VAR_018858 p.Arg519Cys Polymorphism rs45496998 - MTHFR P42898 VAR_018859 p.Arg594Gln Polymorphism rs2274976 - MTHFR P42898 VAR_018860 p.Thr653Met Polymorphism rs35737219 - MTHFR P42898 VAR_050293 p.Arg519His Polymorphism rs45449298 - MTHFR P42898 VAR_050294 p.Gly566Glu Polymorphism rs2274974 - MTHFR P42898 VAR_054158 p.Glu470Ala Polymorphism - - MTHFSD Q2M296 VAR_033373 p.Leu45Val Polymorphism rs34005514 - MTHFSD Q2M296 VAR_033374 p.Ser296Cys Polymorphism rs3751802 - MTHFSD Q2M296 VAR_033375 p.Gly315Arg Polymorphism rs3751803 - MTHFS P49914 VAR_034115 p.Thr202Ala Polymorphism rs8923 - MTIF2 P46199 VAR_014883 p.Val556Ile Polymorphism rs11357 - MTIF2 P46199 VAR_054428 p.Thr59Asn Polymorphism rs1056445 - MTIF3 Q9H2K0 VAR_031045 p.Thr68Ile Polymorphism rs17857314 - MTIF3 Q9H2K0 VAR_031046 p.Phe243Leu Polymorphism rs1218825 - MTL5 Q9Y4I5 VAR_054067 p.Cys223Arg Polymorphism rs12365708 - MTL5 Q9Y4I5 VAR_062236 p.Val260Ala Polymorphism rs35773957 - MTM1 Q13496 VAR_006387 p.Arg69Cys Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006388 p.Leu70Phe Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006389 p.Leu87Pro Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006390 p.Arg184Gly Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006391 p.Asn189Ser Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006392 p.Tyr198Asn Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006393 p.Pro205Leu Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006394 p.Ser229Pro Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006395 p.Arg241Cys Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006396 p.Arg241Leu Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006397 p.Met317Arg Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006398 p.Ser376Asn Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006399 p.Gly378Arg Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006400 p.Tyr397Cys Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006401 p.Gly402Ala Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006402 p.Glu404Lys Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006403 p.Leu406Pro Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006404 p.Arg421Gln Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006406 p.Asp431Asn Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006407 p.Asp433Asn Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006408 p.His469Pro Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_006409 p.Trp499Arg Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_009217 p.Pro179Ser Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_009218 p.Ile225Thr Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_009219 p.Ile264Ser Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_009222 p.Lys510Asn Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018227 p.Val49Phe Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018228 p.Tyr68Asp Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018229 p.Arg69Pro Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018230 p.Arg69Ser Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018231 p.Glu157Lys Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018232 p.Asn180Lys Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018233 p.Arg184Leu Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018234 p.Thr186Ile Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018235 p.Thr197Ile Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018236 p.Pro199Ser Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018237 p.Leu202Ser Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018238 p.Pro226Thr Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018239 p.Val227Met Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018240 p.Leu228Pro Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018241 p.Trp230Cys Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018242 p.His232Arg Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018243 p.Ala279Gly Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018244 p.Trp346Cys Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018245 p.Trp346Ser Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018246 p.Val364Gly Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018247 p.His374Asp Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018248 p.Gly378Glu Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018249 p.Ala389Asp Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018250 p.Leu391Pro Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018251 p.Gly402Arg Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018252 p.Gly402Val Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018253 p.Trp411Cys Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018254 p.Cys444Tyr Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018255 p.Leu470Pro Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTM1 Q13496 VAR_018256 p.Asn481Tyr Disease - Centronuclear myopathy X-linked (CNMX) [MIM:310400] MTMR10 Q9NXD2 VAR_047539 p.Arg648His Polymorphism rs6493352 - MTMR11 A4FU01 VAR_043598 p.Met159Val Polymorphism rs11205303 - MTMR11 A4FU01 VAR_043599 p.Gln531Pro Polymorphism rs16836857 - MTMR14 Q8NCE2 VAR_033370 p.Arg336Gln Disease rs121434509 Centronuclear myopathy type 1 (CNM1) [MIM:160150] MTMR14 Q8NCE2 VAR_033371 p.Tyr462Cys Disease rs121434510 Centronuclear myopathy type 1 (CNM1) [MIM:160150] MTMR2 Q13614 VAR_047255 p.Lys3Thr Polymorphism rs3824874 - MTMR2 Q13614 VAR_047256 p.Asn545Ser Polymorphism rs558018 - MTMR2 Q13614 VAR_047947 p.Arg283Trp Disease - Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382] MTMR3 Q13615 VAR_035656 p.Val221Leu Unclassified - A breast cancer sample MTMR4 Q9NYA4 VAR_035110 p.Leu170Val Polymorphism rs3744108 - MTMR4 Q9NYA4 VAR_035111 p.Ser280Gly Polymorphism rs2302190 - MTMR4 Q9NYA4 VAR_035112 p.Val297Gly Polymorphism rs2302189 - MTMR6 Q9Y217 VAR_024583 p.Ile319Val Polymorphism rs7995033 - MTMR6 Q9Y217 VAR_057143 p.Ala131Thr Polymorphism rs34885345 - MTMR7 Q9Y216 VAR_057144 p.Gln559His Polymorphism rs3764796 - MTMR7 Q9Y216 VAR_059779 p.Pro44Ala Polymorphism rs7388581 - MTMR8 Q96EF0 VAR_042688 p.Trp127Arg Unclassified - A breast cancer sample MTMR8 Q96EF0 VAR_042689 p.Glu454Lys Unclassified - A breast cancer sample MT-ND1 P03886 VAR_004747 p.Ala4Thr Unclassified - - MT-ND1 P03886 VAR_004748 p.Tyr30His Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND1 P03886 VAR_004749 p.Met31Thr Disease - Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND1 P03886 VAR_004750 p.Met31Val Disease - Alzheimer disease mitochondrial (AD-MT) [MIM:502500] MT-ND1 P03886 VAR_004751 p.Ala52Thr Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND1 P03886 VAR_004752 p.Tyr277Cys Polymorphism - - MT-ND1 P03886 VAR_004753 p.Leu285Pro Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND1 P03886 VAR_004754 p.Tyr304His Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND1 P03886 VAR_008587 p.Ser205Pro Polymorphism - - MT-ND1 P03886 VAR_008588 p.Tyr255Cys Polymorphism - - MT-ND1 P03886 VAR_008589 p.Leu288Pro Polymorphism - - MT-ND1 P03886 VAR_011346 p.Thr87Ala Polymorphism - - MT-ND1 P03886 VAR_011347 p.Thr168Ala Polymorphism - - MT-ND1 P03886 VAR_065195 p.Tyr30Cys Unclassified - - MT-ND2 P03891 VAR_004755 p.Asn150Asp Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND2 P03891 VAR_004756 p.Gly259Ser Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND2 P03891 VAR_004757 p.Ala331Thr Polymorphism - - MT-ND2 P03891 VAR_004758 p.Ala331Ser Disease - Alzheimer disease mitochondrial (AD-MT) [MIM:502500] MT-ND2 P03891 VAR_008590 p.Pro42Leu Polymorphism - - MT-ND2 P03891 VAR_008591 p.Ile57Thr Polymorphism - - MT-ND2 P03891 VAR_008592 p.Gln63Arg Polymorphism - - MT-ND2 P03891 VAR_008593 p.Thr119Ala Polymorphism - - MT-ND2 P03891 VAR_008594 p.Ser148Pro Polymorphism - - MT-ND2 P03891 VAR_008595 p.Asn150Ser Polymorphism - - MT-ND2 P03891 VAR_008596 p.Ile159Thr Polymorphism - - MT-ND2 P03891 VAR_008597 p.Thr185Ala Polymorphism - - MT-ND2 P03891 VAR_011348 p.Val43Ile Polymorphism - - MT-ND2 P03891 VAR_011349 p.Ile69Val Polymorphism - - MT-ND2 P03891 VAR_011350 p.Asn88Ser Polymorphism - - MT-ND2 P03891 VAR_011351 p.Leu237Met Polymorphism - - MT-ND2 P03891 VAR_011352 p.Ala265Thr Polymorphism - - MT-ND2 P03891 VAR_011353 p.Ala265Val Polymorphism - - MT-ND2 P03891 VAR_011354 p.Ile278Thr Polymorphism - - MT-ND2 P03891 VAR_011355 p.Phe325Leu Polymorphism - - MT-ND2 P03891 VAR_011356 p.Thr333Ala Polymorphism - - MT-ND3 P03897 VAR_008391 p.Asn10Asp Polymorphism - - MT-ND3 P03897 VAR_008392 p.Thr114Ala Polymorphism - - MT-ND3 P03897 VAR_008598 p.Met53Val Polymorphism - - MT-ND3 P03897 VAR_035091 p.Ser45Pro Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] MT-ND3 P03897 VAR_035092 p.Ala47Thr Disease - Leigh syndrome (LS) [MIM:256000] MT-ND3 P03897 VAR_035092 p.Ala47Thr Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] MT-ND3 P03897 VAR_064564 p.Ser34Pro Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] MT-ND4L P03901 VAR_008397 p.Val65Ala Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND4L P03901 VAR_008496 p.Cys32Arg Unclassified - Colorectal cancer MT-ND4L P03901 VAR_008605 p.Met36Ile Polymorphism - - MT-ND4L P03901 VAR_008606 p.Asn57Ser Polymorphism - - MT-ND4L P03901 VAR_008607 p.Ile61Thr Polymorphism - - MT-ND4 P03905 VAR_004759 p.Thr109Ala Disease - Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND4 P03905 VAR_004760 p.Arg340His Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND4 P03905 VAR_008393 p.Val313Ile Disease - Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] MT-ND4 P03905 VAR_008599 p.Ala79Pro Polymorphism - - MT-ND4 P03905 VAR_008600 p.Thr109Pro Polymorphism - - MT-ND4 P03905 VAR_008601 p.Ile132Thr Polymorphism - - MT-ND4 P03905 VAR_008602 p.Met294Thr Polymorphism - - MT-ND4 P03905 VAR_064565 p.Thr420Ala Unclassified - - MT-ND5 P03915 VAR_004761 p.Ala458Thr Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND5 P03915 VAR_004762 p.Gly465Glu Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND5 P03915 VAR_008603 p.Ala475Thr Polymorphism - - MT-ND5 P03915 VAR_008864 p.Pro17Ser Polymorphism - - MT-ND5 P03915 VAR_008865 p.Phe95Ser Polymorphism - - MT-ND5 P03915 VAR_008866 p.Ser99Pro Polymorphism - - MT-ND5 P03915 VAR_008867 p.Gly146Asp Polymorphism - - MT-ND5 P03915 VAR_008868 p.Ala160Val Polymorphism - - MT-ND5 P03915 VAR_008869 p.Asn165Ser Polymorphism - - MT-ND5 P03915 VAR_008870 p.Phe304Ser Polymorphism - - MT-ND5 P03915 VAR_008871 p.Thr331Ala Polymorphism - - MT-ND5 P03915 VAR_008872 p.Asp503Gly Polymorphism - - MT-ND5 P03915 VAR_011357 p.Thr211Pro Polymorphism - - MT-ND5 P03915 VAR_011358 p.Ile257Val Polymorphism - - MT-ND5 P03915 VAR_011359 p.Met314Val Polymorphism - - MT-ND5 P03915 VAR_035424 p.Phe124Leu Disease - Leigh syndrome (LS) [MIM:256000] MT-ND5 P03915 VAR_035424 p.Phe124Leu Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] MT-ND5 P03915 VAR_035425 p.Glu145Gly Disease - Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND5 P03915 VAR_035426 p.Ala171Val Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND5 P03915 VAR_035427 p.Ala236Thr Unclassified - - MT-ND5 P03915 VAR_035428 p.Met237Leu Unclassified - - MT-ND5 P03915 VAR_035429 p.Ser250Cys Unclassified - - MT-ND5 P03915 VAR_035430 p.Asp393Asn Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] MT-ND5 P03915 VAR_035430 p.Asp393Asn Disease - Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND5 P03915 VAR_064566 p.Val253Ala Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] MT-ND5 P03915 VAR_064567 p.Asn447Ser Unclassified - - MT-ND6 P03923 VAR_004763 p.Met64Val Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_004764 p.Ala72Val Disease - Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] MT-ND6 P03923 VAR_004764 p.Ala72Val Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] MT-ND6 P03923 VAR_008394 p.Ile26Met Disease - Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] MT-ND6 P03923 VAR_008395 p.Gly36Ser Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_008396 p.Tyr59Cys Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_008512 p.Met64Ile Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_008604 p.Tyr165Cys Polymorphism - - MT-ND6 P03923 VAR_014393 p.Val31Ala Polymorphism - - MT-ND6 P03923 VAR_014394 p.Ile33Val Polymorphism - - MT-ND6 P03923 VAR_014395 p.Ile58Val Polymorphism - - MT-ND6 P03923 VAR_014396 p.Leu60Ser Disease - Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND6 P03923 VAR_014397 p.Ala74Val Disease - Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND6 P03923 VAR_064568 p.Met63Val Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] MTNR1A P48039 VAR_009260 p.Arg54Trp Polymorphism rs1800885 - MTNR1A P48039 VAR_009261 p.Ala157Val Polymorphism rs1800884 - MTNR1A P48039 VAR_049420 p.Ile212Thr Polymorphism rs7654853 - MTNR1B P49286 VAR_009262 p.Gly24Glu Polymorphism rs8192552 - MTNR1B P49286 VAR_009263 p.Leu66Phe Polymorphism - - MTNR1B P49286 VAR_049421 p.Arg231His Polymorphism rs8192553 - MTOR P42345 VAR_041537 p.Ala8Ser Unclassified - A lung large cell carcinoma sample MTOR P42345 VAR_041538 p.Met135Thr Unclassified - A metastatic melanoma sample MTOR P42345 VAR_041539 p.Met1083Val Polymorphism rs56164650 - MTOR P42345 VAR_041540 p.Ala1134Val Polymorphism rs28730685 - MTOR P42345 VAR_041541 p.Ser1178Phe Polymorphism rs55975118 - MTOR P42345 VAR_041542 p.Met2011Val Unclassified - An ovarian mucinous carcinoma sample MTOR P42345 VAR_041543 p.Ser2215Tyr Unclassified - A colorectal adenocarcinoma sample MTOR P42345 VAR_041544 p.Pro2476Leu Unclassified - A glioblastoma multiforme sample MTOR P42345 VAR_064733 p.Leu2220Phe Unclassified - - MTOR P42345 VAR_064734 p.Val2406Ala Unclassified - - MTPAP Q9NVV4 VAR_027601 p.Arg162Cys Polymorphism rs1047991 - MTPAP Q9NVV4 VAR_027602 p.Tyr221His Polymorphism rs17855118 - MTPAP Q9NVV4 VAR_027603 p.Cys419Arg Polymorphism rs17857517 - MTPAP Q9NVV4 VAR_027604 p.Ser546Asn Polymorphism rs17855116 - MTPAP Q9NVV4 VAR_064907 p.Asn478Asp Disease - Spastic ataxia autosomal recessive type 4 (SPAX4) [MIM:613672] MTRF1L Q9UGC7 VAR_042725 p.Thr38Ala Polymorphism rs3818125 - MTRF1L Q9UGC7 VAR_042726 p.Arg76Gln Polymorphism rs3818123 - MTRF1L Q9UGC7 VAR_042727 p.Leu177Phe Polymorphism rs12660881 - MTRF1L Q9UGC7 VAR_042728 p.Val214Ile Polymorphism rs3192723 - MTRF1 O75570 VAR_024603 p.Asn2Ser Polymorphism rs9532758 - MTRF1 O75570 VAR_034447 p.Leu324Val Polymorphism rs9566725 - MTRF1 O75570 VAR_051789 p.Ile407Val Polymorphism rs9315812 - MTRNR2L5 P0CJ72 VAR_064548 p.Thr13Ile Unclassified - - MTR Q99707 VAR_004326 p.Arg61Lys Polymorphism - - MTR Q99707 VAR_004327 p.Cys255Tyr Polymorphism - - MTR Q99707 VAR_004329 p.Asp919Gly Polymorphism rs1805087 - MTR Q99707 VAR_004330 p.His920Asp Disease rs28933097 Methylcobalamin deficiency type G (cblG) [MIM:250940] MTR Q99707 VAR_004331 p.Pro1173Leu Disease - Methylcobalamin deficiency type G (cblG) [MIM:250940] MTR Q99707 VAR_050033 p.Arg52Gln Polymorphism rs12749581 - MTR Q99707 VAR_061338 p.Asp314Asn Polymorphism rs2229274 - MTRR Q9UBK8 VAR_012836 p.Ile49Met Polymorphism rs1801394 - MTRR Q9UBK8 VAR_012838 p.Val83Met Disease - Methylcobalamin deficiency type E (cblE) [MIM:236270] MTRR Q9UBK8 VAR_012839 p.Ala156Thr Disease - Methylcobalamin deficiency type E (cblE) [MIM:236270] MTRR Q9UBK8 VAR_012840 p.Leu360Val Polymorphism rs10064631 - MTRR Q9UBK8 VAR_012841 p.Cys432Arg Disease - Methylcobalamin deficiency type E (cblE) [MIM:236270] MTRR Q9UBK8 VAR_012842 p.Gly514Arg Disease - Methylcobalamin deficiency type E (cblE) [MIM:236270] MTRR Q9UBK8 VAR_014944 p.His622Tyr Polymorphism rs10380 - MTRR Q9UBK8 VAR_015731 p.Gly581Arg Disease - Methylcobalamin deficiency type E (cblE) [MIM:236270] MTRR Q9UBK8 VAR_034595 p.Ser202Leu Polymorphism rs1532268 - MTRR Q9UBK8 VAR_034596 p.Ser284Thr Polymorphism rs2303080 - MTRR Q9UBK8 VAR_034597 p.Lys377Arg Polymorphism rs162036 - MTRR Q9UBK8 VAR_034598 p.Arg442Cys Polymorphism rs2287780 - MTRR Q9UBK8 VAR_034599 p.Pro477Arg Polymorphism rs16879334 - MTRR Q9UBK8 VAR_056947 p.Ala542Val Polymorphism rs16879355 - MTSS1 O43312 VAR_054010 p.Asn305Ile Polymorphism rs2303956 - MTSS1 O43312 VAR_054011 p.Thr725Ala Polymorphism rs3829037 - MTTP P55157 VAR_010640 p.His297Gln Polymorphism rs2306985 - MTTP P55157 VAR_010641 p.Asp384Ala Polymorphism rs17029215 - MTTP P55157 VAR_010642 p.Arg540His Disease - Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_010643 p.Ser590Ile Disease - Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_010644 p.Gly746Glu Disease - Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_014016 p.Gln95His Polymorphism - - MTTP P55157 VAR_014017 p.Ile128Thr Polymorphism rs3816873 - MTTP P55157 VAR_014018 p.Gln244Glu Polymorphism rs17599091 - MTTP P55157 VAR_014019 p.Asn780Tyr Disease - Abetalipoproteinemia (ABL) [MIM:200100] MTTP P55157 VAR_014916 p.Glu354Gln Polymorphism rs12933 - MTTP P55157 VAR_022658 p.Val168Ile Polymorphism - - MTTP P55157 VAR_052961 p.Glu98Asp Polymorphism rs2306986 - MTTP P55157 VAR_052962 p.Asn166Ser Polymorphism rs3792683 - MTUS1 Q9ULD2 VAR_035173 p.Gln75Lys Disease - Hepatocellular carcinoma (HCC) [MIM:114550] MTUS1 Q9ULD2 VAR_035174 p.Cys148Arg Polymorphism rs3739407 - MTUS1 Q9ULD2 VAR_035175 p.Thr186Ser Unclassified - - MTUS1 Q9ULD2 VAR_035176 p.Thr425Met Polymorphism - - MTUS1 Q9ULD2 VAR_035177 p.Lys453Thr Polymorphism rs17690844 - MTUS1 Q9ULD2 VAR_035178 p.Ala563Ser Disease - Hepatocellular carcinoma (HCC) [MIM:114550] MTUS1 Q9ULD2 VAR_035179 p.His575Arg Polymorphism rs209569 - MTUS1 Q9ULD2 VAR_035180 p.Asn873His Disease - Hepatocellular carcinoma (HCC) [MIM:114550] MTUS1 Q9ULD2 VAR_035181 p.Lys911Thr Polymorphism - - MTUS1 Q9ULD2 VAR_035182 p.Lys1063Thr Polymorphism rs17853231 - MTUS1 Q9ULD2 VAR_035183 p.Glu1105Gln Polymorphism - - MTUS1 Q9ULD2 VAR_035184 p.Gln1201Arg Disease - Hepatocellular carcinoma (HCC) [MIM:114550] MTUS2 Q5JR59 VAR_055941 p.Pro955His Polymorphism rs12874207 - MTUS2 Q5JR59 VAR_058831 p.Leu1071Gln Polymorphism rs17073511 - MTX1 Q13505 VAR_047376 p.Thr63Ser Polymorphism rs760077 - MTX3 Q5HYI7 VAR_043600 p.Ser238Arg Polymorphism rs9293796 - MUC12 Q9UKN1 VAR_042906 p.Thr4775Arg Polymorphism rs11766125 - MUC13 Q9H3R2 VAR_056589 p.Ala18Val Polymorphism rs4679394 - MUC13 Q9H3R2 VAR_056590 p.Ser363Gly Polymorphism rs16836185 - MUC13 Q9H3R2 VAR_056591 p.Arg502Ser Polymorphism rs1127233 - MUC13 Q9H3R2 VAR_063124 p.Ile99Thr Polymorphism rs4679392 - MUC15 Q8N387 VAR_019376 p.Ile184Thr Polymorphism rs2292290 - MUC15 Q8N387 VAR_019377 p.Thr202Ile Polymorphism rs15783 - MUC15 Q8N387 VAR_050452 p.Ser19Trp Polymorphism rs293979 - MUC16 Q8WXI7 VAR_056592 p.Thr545Ala Polymorphism rs17000957 - MUC16 Q8WXI7 VAR_056593 p.Arg1015Gly Polymorphism rs17000950 - MUC16 Q8WXI7 VAR_056594 p.Ser1032Thr Polymorphism rs10411228 - MUC16 Q8WXI7 VAR_056595 p.Pro1041Ser Polymorphism rs10406202 - MUC16 Q8WXI7 VAR_056596 p.Thr1162Ile Polymorphism rs17000947 - MUC16 Q8WXI7 VAR_056597 p.Lys1266Asn Polymorphism rs1596797 - MUC16 Q8WXI7 VAR_056598 p.His1353Tyr Polymorphism rs12611293 - MUC16 Q8WXI7 VAR_056599 p.Lys1400Asn Polymorphism rs1596798 - MUC16 Q8WXI7 VAR_056600 p.Leu1833Phe Polymorphism rs4520945 - MUC16 Q8WXI7 VAR_056601 p.Ser1953Pro Polymorphism rs1108380 - MUC16 Q8WXI7 VAR_056602 p.Ser2058Pro Polymorphism rs1574479 - MUC16 Q8WXI7 VAR_056603 p.Ile2150Val Polymorphism rs10407633 - MUC16 Q8WXI7 VAR_056604 p.Thr2271Ala Polymorphism rs11085805 - MUC16 Q8WXI7 VAR_056605 p.Val2288Leu Polymorphism rs10410933 - MUC16 Q8WXI7 VAR_056606 p.Asp2356Glu Polymorphism rs10416013 - MUC16 Q8WXI7 VAR_056607 p.Ala2747Thr Polymorphism rs10402538 - MUC16 Q8WXI7 VAR_056608 p.Met2786Ile Polymorphism rs17000886 - MUC16 Q8WXI7 VAR_056609 p.Thr2834Met Polymorphism rs10407623 - MUC16 Q8WXI7 VAR_056610 p.Arg3574His Polymorphism rs2591594 - MUC16 Q8WXI7 VAR_056611 p.His5743Asp Polymorphism rs1559172 - MUC16 Q8WXI7 VAR_056612 p.Ala5756Thr Polymorphism rs1559171 - MUC16 Q8WXI7 VAR_056613 p.Phe5854Val Polymorphism rs1862460 - MUC16 Q8WXI7 VAR_056614 p.Thr7065Ala Polymorphism rs17000770 - MUC16 Q8WXI7 VAR_056615 p.Ile7274Val Polymorphism rs1867691 - MUC16 Q8WXI7 VAR_056616 p.Thr10509Asn Polymorphism rs11670461 - MUC17 Q685J3 VAR_040047 p.Lys227Gln Polymorphism rs10229731 - MUC17 Q685J3 VAR_040048 p.Gly272Glu Polymorphism rs10259584 - MUC17 Q685J3 VAR_040049 p.Arg942Ser Polymorphism rs10238201 - MUC17 Q685J3 VAR_040050 p.Thr982Met Polymorphism rs4729646 - MUC17 Q685J3 VAR_040051 p.Ile1130Thr Polymorphism rs4729647 - MUC17 Q685J3 VAR_040052 p.Ser1242Thr Polymorphism rs10265276 - MUC17 Q685J3 VAR_040053 p.Thr1246Asn Polymorphism rs4729652 - MUC17 Q685J3 VAR_040054 p.Thr1246Ser Polymorphism rs4729651 - MUC17 Q685J3 VAR_040055 p.Pro1249Ala Polymorphism rs4729653 - MUC17 Q685J3 VAR_040056 p.Leu1348Pro Polymorphism rs4269454 - MUC17 Q685J3 VAR_040057 p.Cys1375Arg Polymorphism rs4367469 - MUC17 Q685J3 VAR_040058 p.Asp4334Asn Polymorphism rs6946812 - MUC17 Q685J3 VAR_040059 p.Arg4482Gln Polymorphism rs9656065 - MUC17 Q685J3 VAR_061489 p.Ala427Thr Polymorphism rs56103274 - MUC17 Q685J3 VAR_061490 p.Pro571Leu Polymorphism rs34834039 - MUC17 Q685J3 VAR_061491 p.Pro925Arg Polymorphism rs11979706 - MUC17 Q685J3 VAR_061492 p.Val1480Ala Polymorphism rs7780935 - MUC17 Q685J3 VAR_061493 p.Ala2096Thr Polymorphism rs28593004 - MUC17 Q685J3 VAR_061494 p.Arg2159Gly Polymorphism rs61382267 - MUC17 Q685J3 VAR_061495 p.Ser3299Asn Polymorphism rs35988443 - MUC19 Q7Z5P9 VAR_056617 p.Gly133Glu Polymorphism rs7955308 - MUC19 Q7Z5P9 VAR_056618 p.Thr199Lys Polymorphism rs11564170 - MUC19 Q7Z5P9 VAR_056619 p.Val206Ile Polymorphism rs7958987 - MUC19 Q7Z5P9 VAR_056620 p.Arg207Leu Polymorphism rs17467284 - MUC19 Q7Z5P9 VAR_056621 p.Asp219His Polymorphism rs11564245 - MUC19 Q7Z5P9 VAR_056622 p.Val259Ile Polymorphism rs10506156 - MUC19 Q7Z5P9 VAR_056623 p.Val285Ile Polymorphism rs28365246 - MUC19 Q7Z5P9 VAR_056624 p.Val299Ile Polymorphism rs11564125 - MUC19 Q7Z5P9 VAR_056625 p.Leu426Phe Polymorphism rs12317988 - MUC19 Q7Z5P9 VAR_056626 p.Ile567Thr Polymorphism rs11176635 - MUC19 Q7Z5P9 VAR_056627 p.Ser642Phe Polymorphism rs4768261 - MUC19 Q7Z5P9 VAR_056628 p.Ile694Met Polymorphism rs7966110 - MUC19 Q7Z5P9 VAR_056629 p.Gly712Ser Polymorphism rs4768264 - MUC19 Q7Z5P9 VAR_056630 p.Arg731His Polymorphism rs7312154 - MUC19 Q7Z5P9 VAR_056631 p.Gly743Trp Polymorphism rs12369002 - MUC19 Q7Z5P9 VAR_056632 p.Ala783Thr Polymorphism rs11564141 - MUC19 Q7Z5P9 VAR_056633 p.Cys827Tyr Polymorphism rs11564109 - MUC19 Q7Z5P9 VAR_056634 p.Ala867Thr Polymorphism rs11176666 - MUC19 Q7Z5P9 VAR_056635 p.Val909Ala Polymorphism rs10784621 - MUC19 Q7Z5P9 VAR_056636 p.Asn1037Ser Polymorphism rs17128169 - MUC19 Q7Z5P9 VAR_056637 p.Thr1104Ala Polymorphism rs17128233 - MUC19 Q7Z5P9 VAR_056638 p.Glu1178Ala Polymorphism rs2933353 - MUC19 Q7Z5P9 VAR_056639 p.Ser1186Arg Polymorphism rs7956459 - MUC19 Q7Z5P9 VAR_056640 p.Ala1462Ser Polymorphism rs1492333 - MUC1 P15941 VAR_019390 p.Val1117Met Polymorphism rs1611770 - MUC1 P15941 VAR_019391 p.Ser1142Asn Polymorphism rs11465207 - MUC20 Q8N307 VAR_038536 p.Cys3Ser Polymorphism rs7627924 - MUC20 Q8N307 VAR_038537 p.Val18Gly Polymorphism rs1811139 - MUC20 Q8N307 VAR_038538 p.Thr442Ile Polymorphism rs2550232 - MUC20 Q8N307 VAR_038539 p.Pro590Leu Polymorphism rs3828408 - MUC20 Q8N307 VAR_038540 p.Arg666Trp Polymorphism rs11923495 - MUC20 Q8N307 VAR_038541 p.Ser671Cys Polymorphism rs3762739 - MUC20 Q8N307 VAR_056641 p.Gly514Arg Polymorphism rs3828410 - MUC21 Q5SSG8 VAR_043995 p.Asp139Glu Polymorphism rs9262324 - MUC21 Q5SSG8 VAR_043996 p.Glu161Gly Polymorphism rs9262337 - MUC21 Q5SSG8 VAR_043997 p.Glu244Asp Polymorphism rs41288649 - MUC21 Q5SSG8 VAR_043998 p.Gly253Ser Polymorphism rs41288655 - MUC21 Q5SSG8 VAR_043999 p.Val285Ala Polymorphism rs9262370 - MUC21 Q5SSG8 VAR_044000 p.Glu289Asp Polymorphism rs41288665 - MUC21 Q5SSG8 VAR_044001 p.Asn313Ser Polymorphism rs9262379 - MUC21 Q5SSG8 VAR_044002 p.Ala315Val Polymorphism rs41288675 - MUC21 Q5SSG8 VAR_044003 p.Asp319Glu Polymorphism rs9262380 - MUC21 Q5SSG8 VAR_044004 p.Thr323Pro Polymorphism rs41288679 - MUC21 Q5SSG8 VAR_044005 p.Ser328Asn Polymorphism rs41288681 - MUC21 Q5SSG8 VAR_060457 p.Val98Ala Polymorphism rs1634730 - MUC21 Q5SSG8 VAR_060458 p.Ile282Thr Polymorphism rs9262368 - MUC21 Q5SSG8 VAR_060459 p.Ile282Val Polymorphism rs9262367 - MUC22 E2RYF6 VAR_065357 p.Asn1712Asp Polymorphism - - MUC2 Q02817 VAR_056582 p.Leu58Pro Polymorphism rs2856111 - MUC2 Q02817 VAR_056583 p.Val116Met Polymorphism rs11825977 - MUC2 Q02817 VAR_056584 p.Gly832Ser Polymorphism rs11245936 - MUC2 Q02817 VAR_059531 p.Ser1619Arg Polymorphism rs11245947 - MUC2 Q02817 VAR_059532 p.Pro1689Leu Polymorphism rs11245949 - MUC2 Q02817 VAR_059533 p.Ile2154Thr Polymorphism rs6421972 - MUC2 Q02817 VAR_059534 p.Thr2524Pro Polymorphism rs7480563 - MUC2 Q02817 VAR_059535 p.Thr2524Ser Polymorphism rs7480563 - MUC2 Q02817 VAR_059536 p.Gln2653Leu Polymorphism rs7126405 - MUC2 Q02817 VAR_059537 p.Gln2653Pro Polymorphism rs7126405 - MUC2 Q02817 VAR_061487 p.Pro1768His Polymorphism rs34493663 - MUC3A Q02505 VAR_030722 p.Ala2338Val Polymorphism - - MUC3A Q02505 VAR_030723 p.His2517Asn Polymorphism - - MUC3A Q02505 VAR_030724 p.His2517Tyr Polymorphism - - MUC3B Q9H195 VAR_029507 p.Ala698Val Polymorphism - - MUC3B Q9H195 VAR_029508 p.His877Tyr Polymorphism - - MUC4 Q99102 VAR_030211 p.Gly37Asp Polymorphism rs2259292 - MUC4 Q99102 VAR_030212 p.Thr161Ala Polymorphism rs2293232 - MUC4 Q99102 VAR_030213 p.Ser585Ala Polymorphism rs2246901 - MUC4 Q99102 VAR_056585 p.Ala721Thr Polymorphism rs3749331 - MUC4 Q99102 VAR_056586 p.Ala1205Thr Polymorphism rs2293232 - MUC4 Q99102 VAR_056587 p.Ala1578Ser Polymorphism rs2246901 - MUC4 Q99102 VAR_065261 p.Ala41Pro Polymorphism rs3107764 - MUC4 Q99102 VAR_065262 p.Gly1081Asp Polymorphism rs2259292 - MUC5AC P98088 VAR_036832 p.Leu4897Pro Polymorphism rs1132436 - MUC5B Q9HC84 VAR_014123 p.Ser5196Thr Polymorphism rs2672788 - MUC5B Q9HC84 VAR_056588 p.Arg51Trp Polymorphism rs2075853 - MUC5B Q9HC84 VAR_059538 p.Thr1360Met Polymorphism rs12363494 - MUC5B Q9HC84 VAR_059539 p.Arg1401His Polymorphism rs10835639 - MUC5B Q9HC84 VAR_059540 p.Ala2027Thr Polymorphism rs2943531 - MUC5B Q9HC84 VAR_059541 p.Thr2559Met Polymorphism rs2860722 - MUC5B Q9HC84 VAR_063616 p.Glu34Gly Polymorphism rs2672785 - MUC5B Q9HC84 VAR_063617 p.Gly1805Ser Polymorphism rs1541314 - MUC5B Q9HC84 VAR_063618 p.Pro1889Leu Polymorphism rs2943510 - MUC5B Q9HC84 VAR_063619 p.Ala2025Thr Polymorphism rs34739266 - MUC5B Q9HC84 VAR_063620 p.Met2194Thr Polymorphism rs2943502 - MUC5B Q9HC84 VAR_063621 p.Leu2238Pro Polymorphism rs4963031 - MUC5B Q9HC84 VAR_063622 p.Met2425Thr Polymorphism rs3965632 - MUC5B Q9HC84 VAR_063623 p.Phe3072Ser Polymorphism rs3021161 - MUC5B Q9HC84 VAR_063624 p.Thr3284Ala Polymorphism rs2943531 - MUC5B Q9HC84 VAR_063625 p.Arg3468Pro Polymorphism rs2943529 - MUC5B Q9HC84 VAR_063626 p.Thr3816Met Polymorphism rs75917341 - MUC5B Q9HC84 VAR_063627 p.Ala4404Gly Polymorphism rs2943517 - MUC5B Q9HC84 VAR_063628 p.Pro4440Leu Polymorphism rs2943516 - MUC5B Q9HC84 VAR_063629 p.Thr4706Pro Polymorphism rs2943512 - MUC5B Q9HC84 VAR_063630 p.Thr4712Met Polymorphism rs2943511 - MUC5B Q9HC84 VAR_063631 p.Ala4867Thr Polymorphism rs3021155 - MUC5B Q9HC84 VAR_063632 p.Thr4882Ala Polymorphism rs3021156 - MUC6 Q6W4X9 VAR_059542 p.Pro1578Ser Polymorphism rs10736904 - MUC6 Q6W4X9 VAR_061488 p.Pro1794Thr Polymorphism rs35549382 - MUC7 Q8TAX7 VAR_050451 p.Asn80Lys Polymorphism rs6826961 - MUM1L1 Q5H9M0 VAR_057776 p.Gly95Asp Polymorphism rs12392298 - MUM1 Q2TAK8 VAR_033195 p.Gly219Arg Polymorphism rs3826942 - MUM1 Q2TAK8 VAR_033196 p.Gly551Ala Polymorphism rs34502536 - MUS81 Q96NY9 VAR_021990 p.Leu189Phe Polymorphism rs2298447 - MUS81 Q96NY9 VAR_025340 p.Arg37His Polymorphism rs13817 - MUS81 Q96NY9 VAR_025341 p.Gln481His Polymorphism rs765593 - MUS81 Q96NY9 VAR_038521 p.Arg180Pro Polymorphism rs545500 - MUS81 Q96NY9 VAR_038522 p.Arg350Trp Polymorphism rs34891773 - MUS81 Q96NY9 VAR_061988 p.Ser115Phe Polymorphism rs34381357 - MUSK O15146 VAR_021930 p.Met413Ile Polymorphism rs2274419 - MUSK O15146 VAR_023046 p.Val790Met Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] MUSK O15146 VAR_033837 p.Val829Leu Polymorphism rs578430 - MUSK O15146 VAR_041748 p.Ala27Gly Polymorphism rs56054734 - MUSK O15146 VAR_041749 p.Thr100Met Polymorphism rs35142681 - MUSK O15146 VAR_041750 p.Gly107Glu Polymorphism rs55786136 - MUSK O15146 VAR_041751 p.Ser159Gly Polymorphism rs35176182 - MUSK O15146 VAR_041752 p.Asn222Ser Polymorphism rs55826142 - MUSK O15146 VAR_041753 p.Leu629Phe Polymorphism rs34267283 - MUSK O15146 VAR_041754 p.Val644Ala Polymorphism rs41279055 - MUSK O15146 VAR_041755 p.Asn664Ser Polymorphism rs55963442 - MUSK O15146 VAR_041756 p.Pro696Leu Polymorphism rs56126328 - MUSK O15146 VAR_041757 p.Glu782Asp Polymorphism rs34614566 - MUSK O15146 VAR_041758 p.Asn819Ser Unclassified - A lung neuroendocrine carcinoma sample MUSK O15146 VAR_041759 p.Arg858His Polymorphism rs34115159 - MUT P22033 VAR_004409 p.Arg93His Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004410 p.Trp105Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004411 p.Ala191Glu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004412 p.Arg228Gln Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004413 p.Tyr231Asn Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004414 p.Gly312Val Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004416 p.Val368Asp Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004417 p.Arg369His Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004418 p.Ala377Glu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004419 p.Arg532His Polymorphism rs1141321 - MUT P22033 VAR_004420 p.Gly623Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004421 p.Gly626Cys Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004422 p.Gly630Glu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004423 p.Val633Gly Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004424 p.Gly648Asp Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004425 p.Val669Glu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004426 p.Ile671Val Polymorphism rs8589 - MUT P22033 VAR_004427 p.His678Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004429 p.Leu685Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004430 p.Arg694Trp Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004431 p.Gly703Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_004432 p.Gly717Val Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022393 p.Gly94Val Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022394 p.Arg108His Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022395 p.Ala137Val Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022396 p.Ser148Leu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022397 p.Asp156Asn Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022398 p.Gly158Val Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022399 p.Phe174Ser Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022400 p.Gly203Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022401 p.Gly215Ser Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022402 p.Gln218His Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022403 p.Asn219Tyr Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022404 p.Ser262Asn Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022405 p.Gln293Pro Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022406 p.Leu328Phe Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022407 p.Ala499Thr Polymorphism rs2229385 - MUT P22033 VAR_022408 p.Ala535Pro Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022409 p.Tyr587Cys Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022410 p.Pro615Thr Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022411 p.Lys621Asn Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022412 p.Gln624Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022413 p.His627Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022414 p.Gly637Glu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022415 p.Phe638Ile Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022416 p.Asp640Tyr Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022417 p.Gly642Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_022418 p.Met700Lys Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_023472 p.Ile69Val Polymorphism - - MUT P22033 VAR_023473 p.Gln109Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_023474 p.Ala324Thr Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_023475 p.Leu328Pro Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_023476 p.Arg616Cys Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_023477 p.Leu617Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026592 p.Pro86Leu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026593 p.Gly87Glu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026594 p.Gly94Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026595 p.Pro95Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026596 p.Arg108Cys Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026597 p.Arg108Gly Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026598 p.Gly145Ser Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026599 p.Met186Val Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026600 p.Asn189Lys Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026601 p.Ala197Glu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026602 p.Gly215Cys Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026603 p.Thr230Ile Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026604 p.His265Tyr Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026605 p.Leu281Ser Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026606 p.Gly291Glu Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026607 p.Leu305Ser Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026608 p.Ser306Phe Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026609 p.Tyr316Cys Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026610 p.Leu347Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026611 p.His350Tyr Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026612 p.Arg369Cys Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026613 p.Thr370Pro Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026614 p.Gln383His Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026615 p.Gln383Pro Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026616 p.His386Asn Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026617 p.Asn388His Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026620 p.Gly426Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026621 p.Gly427Asp Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026622 p.Leu518Pro Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026623 p.Cys560Tyr Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026624 p.Thr566Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026625 p.Phe573Ser Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026626 p.Pro615Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_026627 p.Gly637Arg Disease - Methylmalonic aciduria type mut (MMAM) [MIM:251000] MUT P22033 VAR_030495 p.Thr598Ala Polymorphism rs9473556 - MUTYH Q9UIF7 VAR_018872 p.Val22Met Polymorphism rs3219484 - MUTYH Q9UIF7 VAR_018873 p.Tyr176Cys Disease rs34612342 Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_018874 p.Gln335His Polymorphism rs3219489 - MUTYH Q9UIF7 VAR_018875 p.Gly393Asp Disease rs36053993 Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_018876 p.Gly500Glu Polymorphism rs3219494 - MUTYH Q9UIF7 VAR_018877 p.Leu526Met Polymorphism rs3219496 - MUTYH Q9UIF7 VAR_018878 p.Arg531Gln Polymorphism rs3219497 - MUTYH Q9UIF7 VAR_026045 p.Tyr125His Disease - Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_026046 p.Trp128Arg Disease - Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_026047 p.Arg179His Disease - Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_026048 p.Arg238Trp Disease rs34126013 Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_026049 p.Pro402Ser Disease - Gastric cancer (GASC) [MIM:613659] MUTYH Q9UIF7 VAR_026050 p.Gln411Arg Disease - Gastric cancer (GASC) [MIM:613659] MUTYH Q9UIF7 VAR_026051 p.Ser512Phe Polymorphism - - MUTYH Q9UIF7 VAR_048262 p.Ala370Val Polymorphism rs35352891 - MUTYH Q9UIF7 VAR_064939 p.Arg179Cys Disease - Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] MUTYH Q9UIF7 VAR_064940 p.Arg182Trp Disease - Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] MVB12A Q96EY5 VAR_049018 p.Cys106Tyr Polymorphism rs34949802 - MVD P53602 VAR_051605 p.Asn278His Polymorphism rs34519538 - MVK Q03426 VAR_004022 p.His20Pro Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_004022 p.His20Pro Disease - Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_004023 p.Pro167Leu Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_004024 p.Ile268Thr Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_004024 p.Ile268Thr Disease - Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_004025 p.Asn301Thr Disease rs28934896 Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_004026 p.Ala334Thr Disease - Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_004027 p.Val377Ile Disease rs28934897 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_009068 p.Val310Met Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_009068 p.Val310Met Disease - Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_010956 p.His20Asn Disease rs11544299 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010957 p.Leu39Pro Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010958 p.Ser52Asn Polymorphism rs7957619 - MVK Q03426 VAR_010959 p.Ser135Leu Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010960 p.Ala148Thr Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010961 p.Ser150Leu Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010962 p.Gly202Arg Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010963 p.Arg215Gln Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010964 p.Thr243Ile Disease - Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_010965 p.Leu264Phe Disease - Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_010966 p.Leu265Pro Disease - Mevalonic aciduria (MEVA) [MIM:610377] MVK Q03426 VAR_010967 p.Gly309Ser Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_010968 p.Gly326Arg Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029519 p.His20Gln Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029520 p.Val132Ile Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029521 p.Gly171Arg Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029522 p.Gly211Glu Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029523 p.Val250Ile Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029524 p.Leu265Arg Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVK Q03426 VAR_029525 p.Gly335Ser Polymorphism rs11614976 - MVK Q03426 VAR_029526 p.Thr356Met Polymorphism - - MVK Q03426 VAR_029527 p.Gly376Val Disease - Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] MVP Q14764 VAR_050179 p.Val635Ile Polymorphism rs35916172 - MVP Q14764 VAR_050180 p.Arg651Gln Polymorphism rs3764944 - MX1 P20591 VAR_034116 p.Ala381Val Polymorphism rs34717738 - MX1 P20591 VAR_034117 p.Gln611His Polymorphism rs2230454 - MX1 P20591 VAR_058010 p.Val379Ile Polymorphism rs469390 - MXD3 Q9BW11 VAR_049546 p.Gln114His Polymorphism rs35691394 - MXI1 P50539 VAR_004499 p.Glu152Ala Disease - Prostate cancer (PC) [MIM:176807] MXRA5 Q9NR99 VAR_028821 p.Leu2531Val Polymorphism rs1726208 - MXRA5 Q9NR99 VAR_056057 p.Val764Leu Polymorphism rs5983120 - MXRA5 Q9NR99 VAR_056058 p.Thr1484Ala Polymorphism rs12396910 - MXRA5 Q9NR99 VAR_056059 p.Pro1665Ser Polymorphism rs1974522 - MXRA5 Q9NR99 VAR_060357 p.Ile824Val Polymorphism rs5983119 - MXRA5 Q9NR99 VAR_060358 p.Ala1128Val Polymorphism rs1635246 - MXRA5 Q9NR99 VAR_060359 p.Gly1394Asp Polymorphism rs1726199 - MXRA5 Q9NR99 VAR_060360 p.Gly2000Ser Polymorphism rs1635242 - MYBBP1A Q9BQG0 VAR_023064 p.Gln8Glu Polymorphism rs3809849 - MYBBP1A Q9BQG0 VAR_051156 p.His680Tyr Polymorphism rs899440 - MYBBP1A Q9BQG0 VAR_051157 p.His958Pro Polymorphism rs879797 - MYBBP1A Q9BQG0 VAR_051158 p.Met1208Leu Polymorphism rs9905742 - MYBL2 P10244 VAR_020422 p.Ser427Gly Polymorphism rs2070235 - MYBL2 P10244 VAR_050190 p.Asn341Ser Polymorphism rs6017146 - MYBL2 P10244 VAR_050191 p.Val595Met Polymorphism rs7660 - MYBL2 P10244 VAR_050192 p.Ile624Met Polymorphism rs11556379 - MYB P10242 VAR_050188 p.Thr336Ile Polymorphism rs2229999 - MYB P10242 VAR_050189 p.Thr422Asn Polymorphism rs2230000 - MYBPC1 Q00872 VAR_021923 p.His481Gln Polymorphism rs3817552 - MYBPC2 Q14324 VAR_014657 p.Gly52Ser Polymorphism rs25669 - MYBPC2 Q14324 VAR_014658 p.Val624Ile Polymorphism rs25665 - MYBPC2 Q14324 VAR_014659 p.Arg1089His Polymorphism rs25667 - MYBPC2 Q14324 VAR_056060 p.Asp282Asn Polymorphism rs35951152 - MYBPC2 Q14324 VAR_056061 p.Gly514Ser Polymorphism rs8104931 - MYBPC2 Q14324 VAR_061321 p.Glu29Lys Polymorphism rs57092106 - MYBPC2 Q14324 VAR_061322 p.Val341Ile Polymorphism rs58511181 - MYBPC3 Q14896 VAR_003917 p.Glu542Gln Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_003918 p.Arg654His Disease rs1800565 Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_003919 p.Asn755Lys Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019889 p.His257Pro Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019890 p.Glu258Lys Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019891 p.Gly278Glu Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019892 p.Gly279Ala Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019893 p.Arg326Gln Polymorphism rs34580776 - MYBPC3 Q14896 VAR_019894 p.Leu352Pro Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019895 p.Arg502Trp Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019897 p.Lys811Arg Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019898 p.Ala833Val Disease rs3729952 Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019899 p.Val896Met Polymorphism rs35078470 - MYBPC3 Q14896 VAR_019900 p.Ala1194Thr Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_019901 p.Ala1255Thr Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_020085 p.Val158Met Polymorphism rs3729986 - MYBPC3 Q14896 VAR_020086 p.Ser236Gly Polymorphism rs3729989 - MYBPC3 Q14896 VAR_020568 p.Val189Ile Polymorphism rs11570052 - MYBPC3 Q14896 VAR_020569 p.Arg281Gln Polymorphism rs11570060 - MYBPC3 Q14896 VAR_020570 p.Arg382Trp Polymorphism rs11570076 - MYBPC3 Q14896 VAR_020571 p.Leu383Val Polymorphism rs11570077 - MYBPC3 Q14896 VAR_020573 p.Ala522Thr Polymorphism rs11570082 - MYBPC3 Q14896 VAR_020574 p.Gln998Glu Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_020575 p.Arg1048Cys Polymorphism rs11570113 - MYBPC3 Q14896 VAR_027879 p.Glu451Gln Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_027880 p.Arg495Gln Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_027881 p.Arg502Gln Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029390 p.Gly5Arg Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029391 p.Thr59Ala Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029392 p.Pro161Ser Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029393 p.Val219Leu Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029394 p.Asp228Asn Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029395 p.Tyr237Ser Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029396 p.Val256Ile Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029397 p.Arg282Trp Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029398 p.Gly416Ser Polymorphism - - MYBPC3 Q14896 VAR_029399 p.Arg458His Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029400 p.Gly490Arg Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029401 p.Gly507Arg Disease rs35736435 Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029402 p.Gly523Trp Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029403 p.Leu545Met Polymorphism - - MYBPC3 Q14896 VAR_029404 p.Cys566Arg Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029405 p.Asp604Val Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029406 p.Asp605Asn Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029407 p.Pro608Leu Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029408 p.Arg668His Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029409 p.Arg668Pro Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029410 p.Arg733Cys Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029411 p.Asp770Asn Disease rs36211723 Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029412 p.Trp792Arg Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029413 p.Arg810His Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029416 p.Arg820Gln Disease rs2856655 Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029417 p.Ala833Thr Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029418 p.Arg834Thr Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029419 p.Arg834Trp Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029420 p.Pro873His Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029421 p.Asn948Thr Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029422 p.Gln998Arg Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029423 p.Arg1002Gln Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029424 p.Arg1002Trp Polymorphism rs3729799 - MYBPC3 Q14896 VAR_029425 p.Pro1003Gln Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029426 p.Phe1113Ile Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029427 p.Val1115Ile Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_029428 p.Ile1131Thr Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042740 p.Gly263Arg Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042741 p.Arg273His Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042742 p.Ala417Ser Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042743 p.Leu669His Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_042744 p.Glu759Asp Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_045929 p.Arg495Gly Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_045930 p.Thr1028Ser Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPC3 Q14896 VAR_045931 p.Gly1248Arg Disease - Familial hypertrophic cardiomyopathy type 4 (CMH4) [MIM:115197] MYBPHL A2RUH7 VAR_042686 p.Asp269Asn Polymorphism rs629001 - MYBPH Q13203 VAR_028181 p.Gln48His Polymorphism rs2788532 - MYBPH Q13203 VAR_028182 p.Ala49Gly Polymorphism rs2791721 - MYBPH Q13203 VAR_028183 p.Ala114Gly Polymorphism rs2642531 - MYCBP2 O75592 VAR_030070 p.Val2588Met Polymorphism rs9574002 - MYCBP2 O75592 VAR_052086 p.Ala1881Ser Polymorphism rs35887505 - MYCBPAP Q8TBZ2 VAR_035003 p.Ala387Thr Polymorphism rs1380657 - MYCBPAP Q8TBZ2 VAR_035004 p.Arg688Trp Polymorphism rs9890721 - MYCBPAP Q8TBZ2 VAR_035005 p.Ser910Arg Polymorphism rs1133818 - MYCL1 P12524 VAR_027802 p.Thr362Ser Polymorphism rs3134614 - MYCN P04198 VAR_031952 p.Arg393His Disease - Feingold syndrome type 1 (FGLDS1) [MIM:164280] MYCN P04198 VAR_031953 p.Arg393Ser Disease - Feingold syndrome type 1 (FGLDS1) [MIM:164280] MYCN P04198 VAR_031954 p.Arg394His Disease - Feingold syndrome type 1 (FGLDS1) [MIM:164280] MYC P01106 VAR_016327 p.Asn11Ser Polymorphism rs4645959 - MYC P01106 VAR_016328 p.Gly160Cys Polymorphism rs4645960 - MYC P01106 VAR_016329 p.Val170Ile Polymorphism rs4645961 - MYC P01106 VAR_016330 p.Ala322Val Polymorphism rs4645968 - MYC P01106 VAR_063384 p.Glu39Asp Unclassified - A Burkitt lymphoma symple MYC P01106 VAR_063385 p.Pro57Ser Unclassified - A Burkitt lymphoma sample MYC P01106 VAR_063386 p.Pro59Ala Unclassified - A Burkitt lymphoma sample MYC P01106 VAR_063387 p.Asn86Thr Unclassified - A Burkitt lymphoma sample MYCT1 Q8N699 VAR_037115 p.Gly119Ser Polymorphism rs17710008 - MYCT1 Q8N699 VAR_037116 p.Arg127Gly Polymorphism rs17852097 - MYD88 Q99836 VAR_047953 p.Leu93Pro Disease - MYD88 deficiency (MYD88D) [MIM:612260] MYD88 Q99836 VAR_047954 p.Arg196Cys Disease - MYD88 deficiency (MYD88D) [MIM:612260] MYEF2 Q9P2K5 VAR_052209 p.Ala91Thr Polymorphism rs8023906 - MYEF2 Q9P2K5 VAR_052210 p.Ser465Gly Polymorphism rs36075490 - MYEF2 Q9P2K5 VAR_061829 p.Gln426Arg Polymorphism rs2470103 - MYEOV Q96EZ4 VAR_016603 p.Val159Ala Polymorphism rs7103126 - MYEOV Q96EZ4 VAR_056948 p.Arg198Gln Polymorphism rs11539762 - MYEOV Q96EZ4 VAR_056949 p.Gly271Arg Polymorphism rs11228610 - MYEOV Q96EZ4 VAR_056950 p.Pro284Thr Polymorphism rs12274095 - MYF6 P23409 VAR_004493 p.Ala90Asp Disease - Centronuclear myopathy type 3 (CNM3) [MIM:614408] MYF6 P23409 VAR_004494 p.Ala112Ser Disease rs28928909 Centronuclear myopathy type 3 (CNM3) [MIM:614408] MYH11 P35749 VAR_030239 p.Ala1234Thr Polymorphism rs16967494 - MYH11 P35749 VAR_030240 p.Val1289Ala Polymorphism rs16967510 - MYH11 P35749 VAR_030241 p.Val1310Met Polymorphism rs7196804 - MYH11 P35749 VAR_031735 p.Arg1758Gln Disease - Familial aortic aneurysm thoracic type 4 (AAT4) [MIM:132900] MYH11 P35749 VAR_050205 p.Ala1104Thr Polymorphism rs34263860 - MYH11 P35749 VAR_050206 p.Met1508Val Polymorphism rs35176378 - MYH13 Q9UKX3 VAR_024543 p.Met1071Val Polymorphism rs2074877 - MYH13 Q9UKX3 VAR_030231 p.Gly701Arg Polymorphism rs2190729 - MYH13 Q9UKX3 VAR_030232 p.Asp1076Glu Polymorphism rs2074876 - MYH13 Q9UKX3 VAR_030233 p.Arg1294Gln Polymorphism rs17690195 - MYH13 Q9UKX3 VAR_030234 p.His1862Arg Polymorphism rs3744550 - MYH14 Q7Z406 VAR_022866 p.Ile266Val Polymorphism - - MYH14 Q7Z406 VAR_022867 p.Gly376Cys Disease - Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652] MYH14 Q7Z406 VAR_022868 p.Arg726Ser Disease rs28940307 Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652] MYH14 Q7Z406 VAR_022869 p.Leu976Phe Disease rs28940306 Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652] MYH14 Q7Z406 VAR_022870 p.Asn1559Ser Polymorphism - - MYH14 Q7Z406 VAR_037302 p.Ser120Leu Disease - Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652] MYH14 Q7Z406 VAR_056176 p.Pro334Ala Polymorphism rs34498817 - MYH14 Q7Z406 VAR_056177 p.Ala1209Glu Polymorphism rs11669191 - MYH14 Q7Z406 VAR_056178 p.Val1540Ile Polymorphism rs680446 - MYH15 Q9Y2K3 VAR_030235 p.Arg454Gln Polymorphism rs4299484 - MYH15 Q9Y2K3 VAR_030236 p.His504Tyr Polymorphism rs9868484 - MYH15 Q9Y2K3 VAR_030237 p.Thr949Ile Polymorphism rs12638212 - MYH15 Q9Y2K3 VAR_030238 p.Thr1125Ala Polymorphism rs3900940 - MYH15 Q9Y2K3 VAR_046376 p.Asp1467Asn Polymorphism rs1078456 - MYH1 P12882 VAR_030193 p.Arg1341Cys Polymorphism rs3744564 - MYH1 P12882 VAR_030194 p.Gln1539His Polymorphism rs3764850 - MYH1 P12882 VAR_030195 p.Arg1716Cys Polymorphism rs1077841 - MYH1 P12882 VAR_036003 p.Ser1306Leu Unclassified - A breast cancer sample MYH1 P12882 VAR_036004 p.Ala1445Thr Unclassified - A breast cancer sample MYH1 P12882 VAR_036005 p.Val1598Met Unclassified - A breast cancer sample MYH1 P12882 VAR_054159 p.Gly640Ser Polymorphism - - MYH1 P12882 VAR_064735 p.Gln1566Lys Unclassified - - MYH2 Q9UKX2 VAR_032630 p.Glu706Lys Disease - Inclusion body myopathy type 3 (IBM3) [MIM:605637] MYH2 Q9UKX2 VAR_032631 p.Val970Ile Unclassified - - MYH2 Q9UKX2 VAR_032632 p.Leu1061Val Polymorphism - - MYH2 Q9UKX2 VAR_032633 p.Arg1927Gln Polymorphism rs34161789 - MYH3 P11055 VAR_030196 p.Arg1137Cys Polymorphism rs12941197 - MYH3 P11055 VAR_030197 p.Ala1192Thr Polymorphism rs2285477 - MYH3 P11055 VAR_030370 p.Thr178Ile Disease - Distal arthrogryposis type 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030370 p.Thr178Ile Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] MYH3 P11055 VAR_030371 p.Ser261Phe Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] MYH3 P11055 VAR_030372 p.Ser292Cys Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] MYH3 P11055 VAR_030373 p.Glu375Lys Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] MYH3 P11055 VAR_030374 p.Glu498Gly Disease - Distal arthrogryposis type 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030375 p.Asp517Tyr Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] MYH3 P11055 VAR_030376 p.Tyr583Ser Disease - Distal arthrogryposis type 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030377 p.Arg672Cys Disease - Distal arthrogryposis type 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030378 p.Arg672His Disease - Distal arthrogryposis type 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030379 p.Gly769Val Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] MYH3 P11055 VAR_030380 p.Val825Asp Disease - Distal arthrogryposis type 2A (DA2A) [MIM:193700] MYH3 P11055 VAR_030381 p.Lys838Glu Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] MYH3 P11055 VAR_030383 p.Asp1622Ala Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] MYH3 P11055 VAR_030384 p.Ala1637Val Disease rs34165480 Distal arthrogryposis type 2B (DA2B) [MIM:601680] MYH3 P11055 VAR_056173 p.Ala1003Val Polymorphism rs34088014 - MYH3 P11055 VAR_056174 p.Thr1313Ile Polymorphism rs35230241 - MYH4 Q9Y623 VAR_022110 p.Thr883Met Polymorphism rs3744558 - MYH4 Q9Y623 VAR_024542 p.Lys1911Glu Polymorphism rs3744554 - MYH4 Q9Y623 VAR_030198 p.Ala594Thr Polymorphism rs12949680 - MYH4 Q9Y623 VAR_030199 p.Ile1106Met Polymorphism rs917361 - MYH4 Q9Y623 VAR_030200 p.Ala1117Asp Polymorphism rs16943441 - MYH4 Q9Y623 VAR_030201 p.Glu1209Lys Polymorphism rs11651295 - MYH4 Q9Y623 VAR_030202 p.Asp1802Gly Polymorphism rs2277649 - MYH4 Q9Y623 VAR_056175 p.Arg1862Cys Polymorphism rs34260986 - MYH6 P13533 VAR_030203 p.Glu88Gln Polymorphism rs442275 - MYH6 P13533 VAR_030204 p.Leu783Met Polymorphism rs11847151 - MYH6 P13533 VAR_030205 p.Val1101Ala Polymorphism rs365990 - MYH6 P13533 VAR_030206 p.Thr1737Ser Polymorphism rs1059854 - MYH6 P13533 VAR_031882 p.Arg795Gln Disease - Familial hypertrophic cardiomyopathy type 14 (CMH14) [MIM:613251] MYH6 P13533 VAR_031883 p.Ile820Asn Disease - Atrial septal defect type 3 (ASD3) [MIM:614089] MYH6 P13533 VAR_061364 p.Gln1593Leu Polymorphism rs45574136 - MYH6 P13533 VAR_063550 p.Gly56Arg Polymorphism - - MYH6 P13533 VAR_063551 p.Ile275Asn Polymorphism - - MYH6 P13533 VAR_063552 p.Pro830Leu Disease - Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252] MYH6 P13533 VAR_063553 p.Ala1004Ser Disease - Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252] MYH6 P13533 VAR_063554 p.Gln1065His Disease - Familial hypertrophic cardiomyopathy type 14 (CMH14) [MIM:613251] MYH6 P13533 VAR_063555 p.Ala1130Thr Polymorphism - - MYH6 P13533 VAR_063556 p.Glu1295Gln Polymorphism - - MYH6 P13533 VAR_063557 p.Glu1457Lys Disease - Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252] MYH6 P13533 VAR_063558 p.Arg1502Gln Polymorphism - - MYH6 P13533 VAR_065561 p.Arg721Trp Disease - Sick sinus syndrome type 3 (SSS3) [MIM:614090] MYH7B A7E2Y1 VAR_046359 p.Pro28Thr Polymorphism rs17092199 - MYH7B A7E2Y1 VAR_046360 p.Phe459Tyr Polymorphism rs754511 - MYH7B A7E2Y1 VAR_046361 p.Pro738Ser Polymorphism rs3746442 - MYH7B A7E2Y1 VAR_046362 p.Lys1510Asn Polymorphism rs3746435 - MYH7B A7E2Y1 VAR_046363 p.Ala1539Val Polymorphism rs6060147 - MYH7B A7E2Y1 VAR_046364 p.Gln1656Arg Polymorphism rs6060148 - MYH7B A7E2Y1 VAR_046365 p.Val1875Glu Polymorphism rs7273482 - MYH7B A7E2Y1 VAR_054814 p.Lys965Glu Polymorphism rs2425015 - MYH7 P12883 VAR_004566 p.Ala26Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004567 p.Val59Ile Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004568 p.Arg143Gln Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004569 p.Arg249Gln Disease rs3218713 Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004570 p.Gly256Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004571 p.Ile263Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004572 p.Met349Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004573 p.Arg403Leu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004574 p.Arg403Gln Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004575 p.Arg403Trp Disease rs3218714 Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004576 p.Arg453Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004577 p.Phe513Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004578 p.Gly584Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004579 p.Asp587Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004580 p.Asn602Ser Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004581 p.Val606Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004582 p.Lys615Asn Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004583 p.Gly716Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004584 p.Arg719Trp Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004585 p.Arg723Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004586 p.Pro731Leu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004587 p.Ile736Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004588 p.Gly741Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004589 p.Gly741Trp Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004590 p.Asp778Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004591 p.Ala797Thr Disease rs3218716 Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004592 p.Arg870His Disease rs36211715 Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004593 p.Leu908Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004594 p.Glu924Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004595 p.Glu930Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004597 p.Glu935Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_004598 p.Glu949Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_014199 p.Glu743Asp Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_017745 p.Asp107Glu Polymorphism rs2754166 - MYH7 P12883 VAR_017746 p.Ala223Thr Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_017747 p.Ser532Pro Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_017748 p.Ser642Leu Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_017749 p.Arg719Gln Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_017750 p.Ala728Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_017751 p.Phe764Leu Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_017753 p.Ala1124Ser Polymorphism rs1041961 - MYH7 P12883 VAR_017754 p.Arg1845Trp Disease rs28933098 Myopathy myosin storage (MYOMS) [MIM:608358] MYH7 P12883 VAR_017754 p.Arg1845Trp Disease rs28933098 Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430] MYH7 P12883 VAR_019845 p.Val39Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019846 p.Thr188Asn Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019847 p.Arg204His Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019848 p.Asn232Ser Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019849 p.Ala355Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019850 p.Ala428Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019851 p.Ile443Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019852 p.Asn479Ser Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019853 p.Glu483Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019854 p.Met659Ile Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019855 p.Arg663His Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019856 p.Arg663Ser Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019857 p.Arg671Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019858 p.Gly733Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019859 p.Gly768Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019860 p.Asp778Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019861 p.Arg787His Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019862 p.Met852Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019863 p.Arg869Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019865 p.Leu1135Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019866 p.Glu1218Gln Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019867 p.Thr1377Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019868 p.Ala1379Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019869 p.Arg1382Trp Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_019870 p.Val1692Met Polymorphism - - MYH7 P12883 VAR_019871 p.Ala1777Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020797 p.Thr124Ile Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020798 p.Tyr162Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020799 p.Asn187Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020800 p.Arg190Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020801 p.Gln222Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020802 p.Phe244Leu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020803 p.Val320Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020804 p.Leu390Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020805 p.Val406Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020806 p.Glu499Lys Disease rs3218715 Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020807 p.Gln595Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020808 p.Leu601Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020809 p.Arg694Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020810 p.Asn696Ser Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020811 p.Arg712Leu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020812 p.Arg723Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020813 p.Ser782Asn Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020814 p.Glu846Gln Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020815 p.Arg869Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020816 p.Arg870Cys Disease rs36211715 Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020817 p.Met877Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020819 p.Ser1491Cys Polymorphism rs3729823 - MYH7 P12883 VAR_020820 p.Glu1555Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_020821 p.Ser1776Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_022369 p.Arg1500Pro Disease - Myopathy distal type 1 (MPD1) [MIM:160500] MYH7 P12883 VAR_022370 p.Ala1663Pro Disease - Myopathy distal type 1 (MPD1) [MIM:160500] MYH7 P12883 VAR_022371 p.Leu1706Pro Disease - Myopathy distal type 1 (MPD1) [MIM:160500] MYH7 P12883 VAR_029430 p.Asp3Ala Polymorphism rs3729993 - MYH7 P12883 VAR_029431 p.Arg143Trp Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029432 p.Val411Ile Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029433 p.Ala430Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029434 p.Glu466Gln Polymorphism rs4981473 - MYH7 P12883 VAR_029435 p.Leu517Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029436 p.Gly584Ser Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029437 p.Arg694His Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029438 p.Gln734Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029439 p.Ile736Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029440 p.Leu796Phe Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029441 p.Val824Ile Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029442 p.Cys905Phe Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029443 p.Glu924Gln Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_029444 p.Asp928Asn Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_039562 p.Met515Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_039563 p.Arg858Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042762 p.Tyr115His Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042763 p.Arg143Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042764 p.Lys146Asn Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042765 p.Ser148Ile Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042766 p.Val186Leu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042767 p.Ala196Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042768 p.Ile201Thr Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042769 p.Lys207Gln Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042770 p.Pro211Leu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042771 p.Leu227Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042772 p.Ile263Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042773 p.Phe312Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042774 p.Glu328Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042775 p.Lys351Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042776 p.Lys383Asn Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042777 p.Ala385Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042778 p.Val404Leu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042779 p.Val404Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042780 p.Gly407Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042781 p.Thr412Asn Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042782 p.Gly425Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042783 p.Met435Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042784 p.Val440Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042785 p.Thr441Met Disease - Myopathy distal type 1 (MPD1) [MIM:160500] MYH7 P12883 VAR_042786 p.Lys450Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042787 p.Lys450Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042788 p.Arg453His Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042789 p.Glu500Ala Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042790 p.Tyr501Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042791 p.Ile511Phe Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042792 p.Ile511Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042793 p.Met515Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042794 p.Ala550Val Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042795 p.Gly571Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042796 p.His576Arg Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042797 p.Lys615Gln Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042798 p.Arg663Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042799 p.Val698Ala Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042800 p.Gln734Pro Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042801 p.Ala742Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042802 p.Val763Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042803 p.Glu774Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042804 p.Asp778Val Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042805 p.Met822Leu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042806 p.Met822Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042807 p.Gly823Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042809 p.Arg858His Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042810 p.Arg869His Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042811 p.Gln882Glu Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042812 p.Glu894Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042813 p.Ala901Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042814 p.Asp906Gly Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042815 p.Glu921Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042816 p.Glu927Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042817 p.Glu931Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042818 p.Asp953His Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042819 p.Thr1019Asn Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042820 p.Gly1057Asp Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042821 p.Gly1057Ser Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042822 p.Arg1193Ser Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042823 p.Asn1327Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042824 p.Glu1356Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042825 p.Arg1420Trp Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042826 p.Glu1426Lys Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042827 p.Ala1454Thr Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042828 p.Lys1459Asn Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042829 p.Arg1475Cys Polymorphism - - MYH7 P12883 VAR_042830 p.Thr1513Ser Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042831 p.Ser1519Cys Polymorphism - - MYH7 P12883 VAR_042833 p.Arg1634Cys Disease - Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] MYH7 P12883 VAR_042834 p.Arg1712Trp Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042836 p.Glu1753Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042837 p.Glu1768Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042838 p.Thr1854Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042839 p.Glu1883Lys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_042840 p.His1901Leu Disease - Myopathy myosin storage (MYOMS) [MIM:608358] MYH7 P12883 VAR_042841 p.Lys1919Asn Polymorphism - - MYH7 P12883 VAR_042842 p.Thr1929Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_045926 p.Val763Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_045927 p.Arg787Cys Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH7 P12883 VAR_045928 p.Leu1414Met Disease - Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] MYH8 P13535 VAR_019810 p.Arg674Gln Disease rs28932773 Carney complex variant (CACOV) [MIM:608837] MYH8 P13535 VAR_019810 p.Arg674Gln Disease rs28932773 Distal arthrogryposis type (DA7) [MIM:158300] MYH8 P13535 VAR_030207 p.Glu924Gly Polymorphism rs4372733 - MYH8 P13535 VAR_030208 p.Glu1261Gly Polymorphism rs1063926 - MYH8 P13535 VAR_030209 p.Trp1692Arg Polymorphism rs8069834 - MYH8 P13535 VAR_050202 p.Ile326Thr Polymorphism rs34124921 - MYH8 P13535 VAR_050203 p.Ala636Val Polymorphism rs34693726 - MYH8 P13535 VAR_050204 p.Met1229Thr Polymorphism rs35962914 - MYH9 P35579 VAR_010791 p.Asn93Lys Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_010792 p.Arg702Cys Disease - Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650] MYH9 P35579 VAR_010792 p.Arg702Cys Disease - Epstein syndrome (EPS) [MIM:153650] MYH9 P35579 VAR_010792 p.Arg702Cys Disease - Fechtner syndrome (FTNS) [MIM:153640] MYH9 P35579 VAR_010792 p.Arg702Cys Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_010792 p.Arg702Cys Disease - Sebastian syndrome (SBS) [MIM:605249] MYH9 P35579 VAR_010793 p.Arg705His Disease - Deafness autosomal dominant type 17 (DFNA17) [MIM:603622] MYH9 P35579 VAR_010794 p.Thr1155Ile Disease - Fechtner syndrome (FTNS) [MIM:153640] MYH9 P35579 VAR_010794 p.Thr1155Ile Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_010795 p.Arg1165Cys Disease - Fechtner syndrome (FTNS) [MIM:153640] MYH9 P35579 VAR_010795 p.Arg1165Cys Disease - Sebastian syndrome (SBS) [MIM:605249] MYH9 P35579 VAR_010796 p.Asp1424His Disease - Fechtner syndrome (FTNS) [MIM:153640] MYH9 P35579 VAR_010796 p.Asp1424His Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_010797 p.Glu1841Lys Disease - Epstein syndrome (EPS) [MIM:153650] MYH9 P35579 VAR_010797 p.Glu1841Lys Disease - Fechtner syndrome (FTNS) [MIM:153640] MYH9 P35579 VAR_010797 p.Glu1841Lys Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_010797 p.Glu1841Lys Disease - Sebastian syndrome (SBS) [MIM:605249] MYH9 P35579 VAR_018308 p.Ala95Thr Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_018309 p.Ser96Leu Disease - Epstein syndrome (EPS) [MIM:153650] MYH9 P35579 VAR_018310 p.Lys373Asn Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_018310 p.Lys373Asn Disease - Sebastian syndrome (SBS) [MIM:605249] MYH9 P35579 VAR_018311 p.Arg702His Disease - Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650] MYH9 P35579 VAR_018311 p.Arg702His Disease - Epstein syndrome (EPS) [MIM:153650] MYH9 P35579 VAR_018312 p.Ser1114Pro Disease - Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650] MYH9 P35579 VAR_018313 p.Arg1165Leu Disease - Fechtner syndrome (FTNS) [MIM:153640] MYH9 P35579 VAR_018313 p.Arg1165Leu Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_018313 p.Arg1165Leu Disease - Sebastian syndrome (SBS) [MIM:605249] MYH9 P35579 VAR_018315 p.Arg1400Trp Unclassified - - MYH9 P35579 VAR_018316 p.Asp1424Asn Disease - Fechtner syndrome (FTNS) [MIM:153640] MYH9 P35579 VAR_018316 p.Asp1424Asn Disease - Macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208] MYH9 P35579 VAR_018316 p.Asp1424Asn Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_018316 p.Asp1424Asn Disease - Sebastian syndrome (SBS) [MIM:605249] MYH9 P35579 VAR_018317 p.Asp1424Tyr Disease - May-Hegglin anomaly (MHA) [MIM:155100] MYH9 P35579 VAR_018318 p.Ile1626Val Polymorphism rs2269529 - MYH9 P35579 VAR_030385 p.Ile1816Val Disease - Epstein syndrome (EPS) [MIM:153650] MYH9 P35579 VAR_036006 p.Lys810Asn Unclassified - A breast cancer sample MYH9 P35579 VAR_044226 p.Lys910Gln Disease - Fechtner syndrome (FTNS) [MIM:153640] MYH9 P35579 VAR_044227 p.Val967Glu Polymorphism rs16996652 - MYL10 Q9BUA6 VAR_039401 p.Met46Thr Polymorphism rs12216595 - MYL12B O14950 VAR_046371 p.Glu141Gly Polymorphism rs14720 - MYL2 P10916 VAR_004601 p.Ala13Thr Disease - Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_004602 p.Phe18Leu Disease rs28932774 Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_004603 p.Glu22Lys Disease - Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_004604 p.Arg58Gln Disease rs28933099 Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_004605 p.Pro95Ala Disease - Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_019844 p.Asp166Val Disease - Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] MYL2 P10916 VAR_029449 p.Gly57Arg Polymorphism rs2428140 - MYL3 P08590 VAR_004599 p.Met149Val Disease - Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751] MYL3 P08590 VAR_004600 p.Arg154His Disease - Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751] MYL3 P08590 VAR_019842 p.Glu56Gly Disease - Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751] MYL3 P08590 VAR_019843 p.Glu143Lys Disease - Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751] MYL4 P12829 VAR_050458 p.Asn186Tyr Polymorphism rs16941677 - MYL5 Q02045 VAR_050459 p.Phe88Ser Polymorphism rs2228354 - MYL6 P60660 VAR_034118 p.Thr103Pro Polymorphism rs1050470 - MYL6 P60660 VAR_050457 p.Thr85Ile Polymorphism rs11553509 - MYLIP Q8WY64 VAR_019805 p.Asn342Ser Polymorphism rs9370867 - MYLK2 Q9H1R3 VAR_014197 p.Ala87Val Disease - Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] MYLK2 Q9H1R3 VAR_014198 p.Ala95Glu Disease - Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] MYLK2 Q9H1R3 VAR_040860 p.Ala117Val Unclassified - A lung neuroendocrine carcinoma sample MYLK2 Q9H1R3 VAR_040861 p.Gly142Val Polymorphism rs56385445 - MYLK2 Q9H1R3 VAR_040862 p.Pro144Ala Polymorphism rs34396614 - MYLK2 Q9H1R3 VAR_040863 p.Lys324Asn Polymorphism rs34146416 - MYLK3 Q32MK0 VAR_035630 p.Gly390Arg Unclassified - A colorectal cancer sample MYLK3 Q32MK0 VAR_058335 p.Ser70Thr Polymorphism rs9923813 - MYLK3 Q32MK0 VAR_058336 p.Val180Leu Polymorphism rs28407821 - MYLK4 Q86YV6 VAR_040864 p.Glu30Gln Unclassified - A breast infiltrating ductal carcinoma sample MYLK4 Q86YV6 VAR_040865 p.Gly50Arg Polymorphism rs2296356 - MYLK4 Q86YV6 VAR_040866 p.Ala78Ser Unclassified - A breast infiltrating ductal carcinoma sample MYLK4 Q86YV6 VAR_040867 p.Thr126Met Polymorphism rs34953021 - MYLK4 Q86YV6 VAR_040868 p.His217Leu Unclassified - A lung squamous cell carcinoma sample MYLK4 Q86YV6 VAR_040869 p.Cys318Tyr Polymorphism rs35609073 - MYLK4 Q86YV6 VAR_040870 p.Gln373Arg Polymorphism rs35211631 - MYLK4 Q86YV6 VAR_051650 p.Glu39Ala Polymorphism rs7770402 - MYLK Q15746 VAR_019986 p.Leu861Pro Polymorphism rs3732486 - MYLK Q15746 VAR_019987 p.Asp914Glu Polymorphism rs3732487 - MYLK Q15746 VAR_040847 p.Val261Ala Polymorphism rs3796164 - MYLK Q15746 VAR_040848 p.Thr276Ala Polymorphism - - MYLK Q15746 VAR_040849 p.Arg378His Polymorphism - - MYLK Q15746 VAR_040850 p.Met405Val Polymorphism rs35436690 - MYLK Q15746 VAR_040851 p.Pro443Ser Polymorphism - - MYLK Q15746 VAR_040852 p.Arg607Gly Polymorphism - - MYLK Q15746 VAR_040853 p.Pro652Ala Polymorphism - - MYLK Q15746 VAR_040854 p.Trp656Cys Polymorphism - - MYLK Q15746 VAR_040855 p.Thr692Met Polymorphism - - MYLK Q15746 VAR_040856 p.Ala701Thr Polymorphism - - MYLK Q15746 VAR_040857 p.Val709Met Polymorphism - - MYLK Q15746 VAR_040858 p.Ala1527Val Polymorphism - - MYLK Q15746 VAR_040859 p.Pro1588Leu Unclassified - An ovarian mucinous carcinoma sample MYLK Q15746 VAR_057106 p.Pro21His Polymorphism rs28497577 - MYLK Q15746 VAR_057107 p.Pro336Leu Polymorphism rs35912339 - MYLK Q15746 VAR_057108 p.Arg845Cys Polymorphism rs3732485 - MYLK Q15746 VAR_057109 p.Val877Met Polymorphism rs34542174 - MYLK Q15746 VAR_065570 p.Ala128Val Polymorphism - - MYLK Q15746 VAR_065571 p.Gln133His Polymorphism - - MYLK Q15746 VAR_065572 p.Pro160Arg Polymorphism - - MYLK Q15746 VAR_065573 p.Thr1085Ala Polymorphism - - MYLK Q15746 VAR_065574 p.Val1213Met Unclassified - - MYLK Q15746 VAR_065575 p.Glu1399Lys Unclassified - - MYLK Q15746 VAR_065576 p.Ala1754Thr Unclassified - - MYLK Q15746 VAR_065577 p.Ser1759Pro Disease - Familial aortic aneurysm thoracic type 7 (AAT7) [MIM:613780] MYO10 Q9HD67 VAR_046328 p.Val32Ile Polymorphism rs17707947 - MYO10 Q9HD67 VAR_046329 p.Glu273Asp Polymorphism rs6870170 - MYO10 Q9HD67 VAR_046330 p.Arg324Trp Polymorphism rs11750538 - MYO10 Q9HD67 VAR_046331 p.Arg700Gln Polymorphism rs26740 - MYO10 Q9HD67 VAR_046332 p.Ser1663Thr Polymorphism rs25901 - MYO10 Q9HD67 VAR_061366 p.His148Tyr Polymorphism rs7737765 - MYO15A Q9UKN7 VAR_010303 p.Asn2111Tyr Disease - Deafness autosomal recessive type 3 (DFNB3) [MIM:600316] MYO15A Q9UKN7 VAR_010304 p.Ile2113Phe Disease - Deafness autosomal recessive type 3 (DFNB3) [MIM:600316] MYO15A Q9UKN7 VAR_037959 p.Cys1977Arg Polymorphism rs854777 - MYO15A Q9UKN7 VAR_037960 p.Gly2018Arg Polymorphism rs2272571 - MYO15A Q9UKN7 VAR_037961 p.Thr2205Ile Unclassified - - MYO15A Q9UKN7 VAR_037962 p.Ala2490Thr Polymorphism rs16960959 - MYO15A Q9UKN7 VAR_037963 p.Tyr2682Phe Polymorphism rs712270 - MYO15A Q9UKN7 VAR_037964 p.Gln2716His Disease - Deafness autosomal recessive type 3 (DFNB3) [MIM:600316] MYO16 Q9Y6X6 VAR_032584 p.Met385Thr Polymorphism rs16973313 - MYO16 Q9Y6X6 VAR_032585 p.Pro831Ala Polymorphism rs3825491 - MYO16 Q9Y6X6 VAR_050214 p.Asp181Glu Polymorphism rs911973 - MYO16 Q9Y6X6 VAR_050215 p.Val339Ile Polymorphism rs405397 - MYO16 Q9Y6X6 VAR_050216 p.Ile1171Met Polymorphism rs157024 - MYO16 Q9Y6X6 VAR_064737 p.Leu1168His Unclassified - - MYO18A Q92614 VAR_030585 p.Ala958Val Polymorphism rs8076604 - MYO18B Q8IUG5 VAR_015862 p.Gly234Val Unclassified - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015863 p.Lys347Asn Unclassified - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015864 p.Arg379Gln Unclassified - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015865 p.Trp389Cys Unclassified - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015866 p.Thr590Met Unclassified - A lung large cell carcinoma sample MYO18B Q8IUG5 VAR_015867 p.Arg661Trp Unclassified rs5761170 A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015868 p.Ala835Gly Unclassified - A lung squamous cell carcinoma sample MYO18B Q8IUG5 VAR_015869 p.Arg1095Leu Unclassified - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015870 p.Arg1195Gln Unclassified - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015871 p.Pro1238Gln Unclassified - A lung large cell carcinoma sample MYO18B Q8IUG5 VAR_015872 p.Pro1238Thr Unclassified - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015873 p.Glu1708Lys Unclassified - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015874 p.Glu1715Asp Unclassified - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015875 p.Ala1970Glu Unclassified - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015876 p.Gly2295Cys Unclassified - A lung small cell carcinoma sample MYO18B Q8IUG5 VAR_015877 p.Gln2347Arg Polymorphism rs2236005 - MYO18B Q8IUG5 VAR_015878 p.Arg2381His Unclassified - A lung adenocarcinoma sample MYO18B Q8IUG5 VAR_015879 p.Asp2554Glu Unclassified - A lung large cell carcinoma sample MYO18B Q8IUG5 VAR_056190 p.Gly44Glu Polymorphism rs133885 - MYO18B Q8IUG5 VAR_056191 p.Pro177Leu Polymorphism rs13058434 - MYO18B Q8IUG5 VAR_056192 p.Trp547Cys Polymorphism rs3859866 - MYO18B Q8IUG5 VAR_056193 p.Ser925Leu Polymorphism rs9624909 - MYO18B Q8IUG5 VAR_056194 p.Trp1037Ser Polymorphism rs17704912 - MYO18B Q8IUG5 VAR_056195 p.His1119Gln Polymorphism rs5761268 - MYO18B Q8IUG5 VAR_056196 p.Ser1390Phe Polymorphism rs35578357 - MYO18B Q8IUG5 VAR_056197 p.Ile1399Val Polymorphism rs695633 - MYO18B Q8IUG5 VAR_056198 p.Ser1444Thr Polymorphism rs33928909 - MYO18B Q8IUG5 VAR_056199 p.Ala2294Asp Polymorphism rs35370367 - MYO18B Q8IUG5 VAR_056200 p.Gly2395Ala Polymorphism rs6004901 - MYO18B Q8IUG5 VAR_056201 p.Gly2513Ser Polymorphism rs7284177 - MYO18B Q8IUG5 VAR_056202 p.Arg2532Gln Polymorphism rs34875296 - MYO19 Q96H55 VAR_043018 p.Asn176Ser Polymorphism rs2306595 - MYO19 Q96H55 VAR_043019 p.Gln203His Polymorphism rs9890918 - MYO19 Q96H55 VAR_043020 p.Leu475Ile Polymorphism rs7217346 - MYO1A Q9UBC5 VAR_015946 p.Val306Met Unclassified rs55679042 - MYO1A Q9UBC5 VAR_015947 p.Glu385Asp Disease - Deafness autosomal dominant type 48 (DFNA48) [MIM:607841] MYO1A Q9UBC5 VAR_015948 p.Gly662Glu Unclassified rs33962952 - MYO1A Q9UBC5 VAR_015949 p.Gly674Asp Disease - Deafness autosomal dominant type 48 (DFNA48) [MIM:607841] MYO1A Q9UBC5 VAR_015950 p.Ser797Phe Disease - Deafness autosomal dominant type 48 (DFNA48) [MIM:607841] MYO1A Q9UBC5 VAR_015951 p.Ser910Pro Disease - Deafness autosomal dominant type 48 (DFNA48) [MIM:607841] MYO1A Q9UBC5 VAR_020320 p.Phe600Leu Polymorphism rs2270738 - MYO1A Q9UBC5 VAR_050207 p.Pro426Leu Polymorphism rs4759043 - MYO1A Q9UBC5 VAR_050208 p.Cys506Ser Polymorphism rs12297756 - MYO1A Q9UBC5 VAR_050209 p.Thr996Ile Polymorphism rs17119344 - MYO1B O43795 VAR_014113 p.Glu969Lys Unclassified - A melanoma patient MYO1B O43795 VAR_036007 p.Val385Gly Unclassified - A colorectal cancer sample MYO1B O43795 VAR_036008 p.Val385Ile Unclassified - A colorectal cancer sample MYO1C O00159 VAR_054855 p.Val795Ile Polymorphism rs8081370 - MYO1C O00159 VAR_054856 p.Gln826Arg Polymorphism rs9905106 - MYO1D O94832 VAR_050210 p.Pro765Ser Polymorphism rs7209106 - MYO1D O94832 VAR_050211 p.Arg771His Polymorphism rs7215958 - MYO1F O00160 VAR_056179 p.Pro960Leu Polymorphism rs2288411 - MYO1G B0I1T2 VAR_044013 p.Val49Met Polymorphism - - MYO1G B0I1T2 VAR_044014 p.Met489Thr Polymorphism rs3735485 - MYO1G B0I1T2 VAR_044015 p.Gln861Arg Polymorphism rs7792760 - MYO1G B0I1T2 VAR_050212 p.Arg798Gln Polymorphism rs2107737 - MYO1H Q8N1T3 VAR_043131 p.Ser37Arg Polymorphism rs11611277 - MYO1H Q8N1T3 VAR_043132 p.His705Tyr Polymorphism rs34725387 - MYO1H Q8N1T3 VAR_050213 p.Leu1011Pro Polymorphism rs3825393 - MYO3A Q8NEV4 VAR_021866 p.Asp204Asn Polymorphism rs3737274 - MYO3A Q8NEV4 VAR_021867 p.Ser956Asn Polymorphism rs3758449 - MYO3A Q8NEV4 VAR_022779 p.Arg1313Ser Polymorphism rs1999240 - MYO3A Q8NEV4 VAR_033905 p.Thr1284Ser Polymorphism rs3740231 - MYO3A Q8NEV4 VAR_040871 p.Thr178Ile Polymorphism rs33968748 - MYO3A Q8NEV4 VAR_040872 p.Arg319His Polymorphism rs3824700 - MYO3A Q8NEV4 VAR_040873 p.Ile348Val Polymorphism rs3824699 - MYO3A Q8NEV4 VAR_040874 p.Val369Ile Polymorphism rs3817420 - MYO3A Q8NEV4 VAR_040875 p.Asn525Lys Unclassified - An ovarian mucinous carcinoma sample MYO3A Q8NEV4 VAR_040876 p.Ala833Ser Polymorphism rs33947968 - MYO3A Q8NEV4 VAR_040877 p.Ser956Arg Unclassified - An ovarian serous carcinoma sample MYO3A Q8NEV4 VAR_040878 p.Ala1032Thr Polymorphism rs34918608 - MYO3A Q8NEV4 VAR_040879 p.Val1045Met Polymorphism rs35447806 - MYO3A Q8NEV4 VAR_040880 p.Val1137Met Polymorphism rs35449183 - MYO3A Q8NEV4 VAR_040881 p.Val1195Ala Polymorphism rs35675577 - MYO3A Q8NEV4 VAR_040882 p.Pro1287Thr Polymorphism rs35575696 - MYO3A Q8NEV4 VAR_040883 p.Asp1347His Unclassified - A renal clear cell carcinoma sample MYO3A Q8NEV4 VAR_040884 p.Thr1417Ile Polymorphism rs34151474 - MYO3A Q8NEV4 VAR_040885 p.Lys1488Glu Polymorphism rs34204285 - MYO3B Q8WXR4 VAR_030605 p.Ile275Val Polymorphism rs10209102 - MYO3B Q8WXR4 VAR_030606 p.Lys309Glu Polymorphism rs4668246 - MYO3B Q8WXR4 VAR_030607 p.Ala406Thr Polymorphism rs10168181 - MYO3B Q8WXR4 VAR_030608 p.Val770Ile Polymorphism rs6736609 - MYO3B Q8WXR4 VAR_030609 p.Glu798Lys Polymorphism rs11892763 - MYO3B Q8WXR4 VAR_030610 p.Arg1082Lys Polymorphism rs10185178 - MYO3B Q8WXR4 VAR_040886 p.Pro21Ser Polymorphism rs35391761 - MYO3B Q8WXR4 VAR_040887 p.Arg185His Polymorphism rs55911154 - MYO3B Q8WXR4 VAR_040888 p.Asn267Ser Polymorphism rs34509373 - MYO3B Q8WXR4 VAR_040889 p.His316Leu Polymorphism rs55633190 - MYO3B Q8WXR4 VAR_040890 p.Glu352Gln Polymorphism rs56179904 - MYO3B Q8WXR4 VAR_040891 p.Asn388Ser Polymorphism rs34273653 - MYO3B Q8WXR4 VAR_040892 p.Gln638Pro Polymorphism rs55911627 - MYO3B Q8WXR4 VAR_040893 p.Glu773Gly Polymorphism rs33962844 - MYO3B Q8WXR4 VAR_040894 p.Arg918Gln Polymorphism rs55769829 - MYO3B Q8WXR4 VAR_040895 p.Ser969Cys Polymorphism rs35857918 - MYO3B Q8WXR4 VAR_040896 p.Arg990Cys Polymorphism rs34236931 - MYO3B Q8WXR4 VAR_040897 p.Ile1092Val Polymorphism rs34219776 - MYO3B Q8WXR4 VAR_040898 p.Val1137Ile Polymorphism rs34546065 - MYO3B Q8WXR4 VAR_040899 p.Arg1165Cys Polymorphism rs56052422 - MYO5A Q9Y4I1 VAR_010645 p.Arg1246Cys Polymorphism rs1058219 - MYO5A Q9Y4I1 VAR_056180 p.Met627Thr Polymorphism rs16964944 - MYO5A Q9Y4I1 VAR_056181 p.Ser1673Leu Polymorphism rs9282796 - MYO5B Q9ULV0 VAR_054993 p.Val108Gly Disease - Diarrhea type 2 (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_054994 p.Arg219His Disease - Diarrhea type 2 (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_054995 p.Arg656Cys Disease - Diarrhea type 2 (DIAR2) [MIM:251850] MYO5B Q9ULV0 VAR_056182 p.Cys10Gly Polymorphism rs16951438 - MYO5B Q9ULV0 VAR_056183 p.Lys307Asn Polymorphism rs17659179 - MYO5B Q9ULV0 VAR_056184 p.Arg918His Polymorphism rs2298624 - MYO5B Q9ULV0 VAR_056185 p.Lys942Arg Polymorphism rs2277716 - MYO5B Q9ULV0 VAR_063141 p.Thr126Ala Polymorphism rs1815930 - MYO5C Q9NQX4 VAR_010646 p.Leu522Pro Polymorphism - - MYO5C Q9NQX4 VAR_010647 p.Leu634Ser Polymorphism - - MYO5C Q9NQX4 VAR_024544 p.Glu1075Lys Polymorphism rs3825801 - MYO5C Q9NQX4 VAR_056186 p.Pro1396Leu Polymorphism rs17650440 - MYO5C Q9NQX4 VAR_061365 p.Arg172Cys Polymorphism rs55686434 - MYO6 Q9UM54 VAR_012110 p.Cys442Tyr Disease - Deafness autosomal dominant type 22 (DFNA22) [MIM:606346] MYO6 Q9UM54 VAR_016209 p.Glu216Val Disease rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821] MYO6 Q9UM54 VAR_029988 p.His246Arg Disease rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346] MYO7A Q13402 VAR_009315 p.Leu16Ser Disease rs1052030 Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009316 p.Gly25Arg Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009317 p.Ile205Val Polymorphism - - MYO7A Q13402 VAR_009318 p.Arg212Cys Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009319 p.Arg212His Disease rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009320 p.Gly214Arg Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009322 p.Arg241Ser Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009323 p.Arg244Pro Disease - Deafness autosomal recessive type 2 (DFNB2) [MIM:600060] MYO7A Q13402 VAR_009324 p.Arg302His Unclassified rs41298135 - MYO7A Q13402 VAR_009325 p.Ala397Asp Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009326 p.Glu450Gln Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009328 p.Pro503Leu Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009329 p.Val597Ile Polymorphism - - MYO7A Q13402 VAR_009330 p.Met599Ile Disease - Deafness autosomal recessive type 2 (DFNB2) [MIM:600060] MYO7A Q13402 VAR_009331 p.Leu651Pro Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009332 p.Ala826Thr Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009334 p.Gly955Ser Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009335 p.Leu1087Pro Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009336 p.Glu1170Lys Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009337 p.Arg1240Gln Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009338 p.Ala1288Pro Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009339 p.Arg1343Ser Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009340 p.Arg1602Gln Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009341 p.Ala1628Ser Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009343 p.Ser1666Cys Polymorphism rs2276288 - MYO7A Q13402 VAR_009344 p.Tyr1719Cys Unclassified - - MYO7A Q13402 VAR_009345 p.Leu1954Ile Polymorphism rs948962 - MYO7A Q13402 VAR_009346 p.Phe1992Ile Polymorphism - - MYO7A Q13402 VAR_009347 p.Gly2137Glu Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_009348 p.Gly2163Ser Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024039 p.Ala26Glu Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024040 p.Val67Met Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024041 p.Arg90Pro Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024042 p.Ile134Asn Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024043 p.Thr165Met Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024044 p.Arg241Cys Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024046 p.Ala457Val Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024047 p.Gly519Asp Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024048 p.Arg756Trp Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024049 p.Glu968Asp Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024051 p.Arg1743Trp Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024052 p.Leu1858Pro Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024053 p.Arg1883Gln Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024054 p.Pro1887Leu Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_024055 p.Gly2187Asp Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027301 p.His133Asp Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027302 p.Gly163Arg Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027303 p.Lys164Arg Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027304 p.Ala198Thr Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027305 p.Thr204Ala Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027306 p.Asn458Ile Disease rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317] MYO7A Q13402 VAR_027307 p.Gly722Arg Disease - Deafness autosomal dominant type 11 (DFNA11) [MIM:601317] MYO7A Q13402 VAR_027308 p.Arg853Cys Disease - Deafness autosomal dominant type 11 (DFNA11) [MIM:601317] MYO7A Q13402 VAR_027309 p.Glu1327Lys Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027311 p.Thr1566Met Unclassified rs41298747 - MYO7A Q13402 VAR_027312 p.Ser1666Gly Polymorphism - - MYO7A Q13402 VAR_027313 p.Gly1740Ser Polymorphism rs12275336 - MYO7A Q13402 VAR_027314 p.Arg1873Trp Disease - Usher syndrome type 1B (USH1B) [MIM:276900] MYO7A Q13402 VAR_027316 p.Asp2142Asn Polymorphism rs1132036 - MYO7A Q13402 VAR_056187 p.Glu602Lys Polymorphism rs2276282 - MYO7A Q13402 VAR_056188 p.Val679Ile Polymorphism rs35641839 - MYO7B Q6PIF6 VAR_042626 p.Gly21Ser Polymorphism rs2404991 - MYO7B Q6PIF6 VAR_042627 p.Arg1264Gln Polymorphism rs2245408 - MYO7B Q6PIF6 VAR_042628 p.Glu1647Asp Polymorphism rs13025959 - MYO7B Q6PIF6 VAR_042629 p.Gln2105Arg Polymorphism rs11686946 - MYO9A B2RTY4 VAR_046165 p.Arg37Lys Polymorphism rs17855105 - MYO9A B2RTY4 VAR_046166 p.Arg85Gln Polymorphism - - MYO9A B2RTY4 VAR_046167 p.Thr161Ile Polymorphism rs2929516 - MYO9A B2RTY4 VAR_046168 p.Asn168Asp Polymorphism - - MYO9A B2RTY4 VAR_046169 p.Leu211Pro Polymorphism - - MYO9A B2RTY4 VAR_046170 p.Arg946Gln Polymorphism - - MYO9A B2RTY4 VAR_046171 p.Gly1193Glu Polymorphism rs2415129 - MYO9A B2RTY4 VAR_046172 p.Ser1362Pro Polymorphism rs55738821 - MYO9A B2RTY4 VAR_046173 p.Pro1476Arg Polymorphism rs16956375 - MYO9A B2RTY4 VAR_046174 p.His1795Tyr Polymorphism rs16956367 - MYO9A B2RTY4 VAR_046175 p.His1805Gln Polymorphism rs2306575 - MYO9A B2RTY4 VAR_046176 p.Arg1834Cys Polymorphism - - MYO9A B2RTY4 VAR_046177 p.Ile2390Val Polymorphism rs2291280 - MYO9A B2RTY4 VAR_056189 p.Ala825Val Polymorphism rs11637562 - MYOC Q99972 VAR_005468 p.Gly246Arg Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005469 p.Gln337Arg Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005470 p.Gly364Val Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005471 p.Gly367Arg Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005472 p.Pro370Leu Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005473 p.Val426Phe Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005474 p.Tyr437His Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005475 p.Ile477Ser Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005476 p.Asn480Lys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_005477 p.Ile499Phe Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_008969 p.Val53Ala Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_008970 p.Cys433Arg Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009665 p.Phe4Ser Polymorphism - - MYOC Q99972 VAR_009666 p.Cys9Ser Polymorphism - - MYOC Q99972 VAR_009667 p.Gly12Arg Polymorphism - - MYOC Q99972 VAR_009668 p.Gln19His Polymorphism rs2234925 - MYOC Q99972 VAR_009669 p.Asn73Ser Polymorphism - - MYOC Q99972 VAR_009670 p.Arg76Lys Polymorphism rs2234926 - MYOC Q99972 VAR_009671 p.Arg82Cys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009672 p.Arg82His Polymorphism - - MYOC Q99972 VAR_009673 p.Arg189Gln Polymorphism - - MYOC Q99972 VAR_009674 p.Ser203Phe Polymorphism - - MYOC Q99972 VAR_009675 p.Trp286Arg Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009676 p.Thr293Lys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009677 p.Val329Met Polymorphism - - MYOC Q99972 VAR_009678 p.Glu352Lys Unclassified - - MYOC Q99972 VAR_009679 p.Thr353Ile Unclassified - - MYOC Q99972 VAR_009680 p.Pro361Ser Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009681 p.Thr377Met Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009682 p.Asp380Ala Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009683 p.Asp380Gly Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009684 p.Ser393Arg Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009685 p.Lys398Arg Polymorphism rs56314834 - MYOC Q99972 VAR_009686 p.Val402Ile Polymorphism - - MYOC Q99972 VAR_009687 p.Arg422Cys Polymorphism - - MYOC Q99972 VAR_009688 p.Arg422His Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009689 p.Lys423Glu Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009690 p.Ser425Pro Polymorphism - - MYOC Q99972 VAR_009691 p.Ala445Val Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009692 p.Ile465Met Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009693 p.Arg470Cys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009694 p.Tyr473Cys Polymorphism - - MYOC Q99972 VAR_009695 p.Ile477Asn Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009696 p.Pro481Leu Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009697 p.Pro481Thr Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_009698 p.Val495Ile Polymorphism - - MYOC Q99972 VAR_009699 p.Lys500Arg Polymorphism - - MYOC Q99972 VAR_009700 p.Ser502Pro Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_014943 p.Asp208Glu Disease rs2234927 Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054269 p.Pro16Leu Polymorphism - - MYOC Q99972 VAR_054270 p.Ala17Ser Polymorphism - - MYOC Q99972 VAR_054271 p.Cys25Arg Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054272 p.Gln48His Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] MYOC Q99972 VAR_054272 p.Gln48His Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054273 p.Asn57Asp Polymorphism - - MYOC Q99972 VAR_054274 p.Asn57Ser Polymorphism - - MYOC Q99972 VAR_054275 p.Asp77Glu Polymorphism - - MYOC Q99972 VAR_054276 p.Leu95Pro Polymorphism - - MYOC Q99972 VAR_054277 p.Arg126Trp Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054278 p.Arg158Gln Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054279 p.Leu215Pro Polymorphism - - MYOC Q99972 VAR_054280 p.Gly244Val Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054281 p.Cys245Tyr Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054282 p.Val251Ala Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054283 p.Gly252Arg Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054284 p.Glu261Lys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054285 p.Arg272Gly Unclassified - - MYOC Q99972 VAR_054286 p.Pro274Arg Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054287 p.Glu300Lys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054288 p.Glu323Lys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054289 p.Gln337Glu Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054290 p.Ser341Pro Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054291 p.Arg342Lys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054292 p.Ile345Met Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054293 p.Ile360Asn Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054294 p.Ala363Thr Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054295 p.Phe369Leu Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054296 p.Thr377Lys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054297 p.Asp380His Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054298 p.Asp380Asn Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054299 p.Ser393Asn Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054300 p.Gly399Val Disease rs28936694 Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054301 p.Glu414Lys Polymorphism - - MYOC Q99972 VAR_054302 p.Ala427Thr Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054303 p.Gly434Ser Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054304 p.Thr438Ile Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054305 p.Thr448Pro Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054306 p.Asn450Asp Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054307 p.Arg470His Polymorphism - - MYOC Q99972 VAR_054308 p.Tyr471Cys Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOC Q99972 VAR_054309 p.Ile499Ser Disease - Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] MYOD1 P15172 VAR_036392 p.Glu262Lys Unclassified - A breast cancer sample MYOD1 P15172 VAR_036393 p.Ala309Val Unclassified - A breast cancer sample MYOF Q9NZM1 VAR_031250 p.Tyr1198Phe Polymorphism rs12256834 - MYOF Q9NZM1 VAR_031251 p.Arg1399Cys Polymorphism rs11187393 - MYOF Q9NZM1 VAR_031252 p.Arg1783Gln Polymorphism rs11594445 - MYOF Q9NZM1 VAR_049058 p.Val1136Ile Polymorphism rs36032890 - MYOF Q9NZM1 VAR_049059 p.Gly1701Ala Polymorphism rs34000599 - MYOM1 P52179 VAR_047221 p.Val22Leu Polymorphism rs1791085 - MYOM1 P52179 VAR_047222 p.Ser181Pro Polymorphism rs1962519 - MYOM1 P52179 VAR_047223 p.Thr215Met Polymorphism rs2230165 - MYOM1 P52179 VAR_047224 p.Gly341Ala Polymorphism rs8099021 - MYOM1 P52179 VAR_047225 p.Glu600Val Polymorphism rs9807556 - MYOM1 P52179 VAR_047226 p.Ile960Thr Polymorphism rs1071600 - MYOM1 P52179 VAR_047227 p.Asp1408Asn Polymorphism rs3765623 - MYOM1 P52179 VAR_047228 p.Met1453Thr Polymorphism rs16944397 - MYOM2 P54296 VAR_020083 p.Thr776Met Polymorphism rs2294066 - MYOM2 P54296 VAR_020084 p.Leu1022Phe Polymorphism rs2280896 - MYOM2 P54296 VAR_033613 p.Glu81Lys Polymorphism rs35985218 - MYOM2 P54296 VAR_033614 p.Thr182Met Polymorphism rs17064618 - MYOM2 P54296 VAR_033615 p.Val321Leu Polymorphism rs2272720 - MYOM2 P54296 VAR_033616 p.Val363Ile Polymorphism rs34316994 - MYOM2 P54296 VAR_033617 p.Ser601Tyr Polymorphism rs36089594 - MYOM2 P54296 VAR_033618 p.Val701Ile Polymorphism rs35335787 - MYOM2 P54296 VAR_033619 p.Glu1284Asp Polymorphism rs34735757 - MYOM2 P54296 VAR_054501 p.Asn869Ser Polymorphism rs968381 - MYOM2 P54296 VAR_061320 p.Val1168Ala Polymorphism rs17854780 - MYOM3 Q5VTT5 VAR_038179 p.Thr266Met Polymorphism rs6678540 - MYOM3 Q5VTT5 VAR_038180 p.Met344Thr Polymorphism rs4233050 - MYOM3 Q5VTT5 VAR_038181 p.Gln435Arg Polymorphism rs6700245 - MYOM3 Q5VTT5 VAR_038182 p.Asp528Gly Polymorphism rs4393101 - MYOM3 Q5VTT5 VAR_038183 p.Gly662Arg Polymorphism rs4320729 - MYOM3 Q5VTT5 VAR_038184 p.Arg775Gln Polymorphism rs12082295 - MYOM3 Q5VTT5 VAR_038185 p.Pro853Ser Polymorphism rs35446243 - MYOM3 Q5VTT5 VAR_038186 p.Asp892Ala Polymorphism rs36077733 - MYOM3 Q5VTT5 VAR_038187 p.Phe1041Leu Polymorphism rs16829083 - MYOM3 Q5VTT5 VAR_038188 p.Ile1066Thr Polymorphism rs12145360 - MYOM3 Q5VTT5 VAR_038189 p.Arg1124Gln Polymorphism rs16829071 - MYOM3 Q5VTT5 VAR_049910 p.Asp258His Polymorphism rs4319261 - MYOT Q9UBF9 VAR_021569 p.Ser55Phe Disease - Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000] MYOT Q9UBF9 VAR_021569 p.Ser55Phe Disease - Myopathy myofibrillar type 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_021570 p.Thr57Ile Disease rs28937597 Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000] MYOT Q9UBF9 VAR_021571 p.Ser60Cys Disease - Myopathy myofibrillar type 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_021572 p.Ser60Phe Disease - Myopathy myofibrillar type 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_021573 p.Ser95Ile Disease - Myopathy myofibrillar type 3 (MFM3) [MIM:609200] MYOT Q9UBF9 VAR_029532 p.Ser39Phe Disease - Spheroid body myopathy (SBM) [MIM:182920] MYOT Q9UBF9 VAR_029533 p.Lys74Gln Polymorphism rs41431944 - MYOT Q9UBF9 VAR_035520 p.Ser33Ile Unclassified - A colorectal cancer sample MYOT Q9UBF9 VAR_049914 p.Gln50Arg Polymorphism rs34717730 - MYOZ2 Q9NPC6 VAR_065469 p.Ser48Pro Disease - Familial hypertrophic cardiomyopathy type 16 (CMH16) [MIM:613838] MYOZ2 Q9NPC6 VAR_065470 p.Ile246Met Disease - Familial hypertrophic cardiomyopathy type 16 (CMH16) [MIM:613838] MYOZ3 Q8TDC0 VAR_056203 p.Thr209Asn Polymorphism rs7737542 - MYPN Q86TC9 VAR_026727 p.Ser691Asn Polymorphism rs10997975 - MYPN Q86TC9 VAR_026728 p.Ser707Asn Polymorphism rs7916821 - MYPN Q86TC9 VAR_026729 p.Ser803Arg Polymorphism rs3814182 - MYPN Q86TC9 VAR_049911 p.Val393Ala Polymorphism rs11596653 - MYPN Q86TC9 VAR_049912 p.Phe628Leu Polymorphism rs10823148 - MYPN Q86TC9 VAR_049913 p.Pro1135Thr Polymorphism rs7079481 - MYRFL Q96LU7 VAR_027780 p.Ala753Ser Polymorphism rs11177991 - MYRFL Q96LU7 VAR_033742 p.Ser723Leu Polymorphism rs35051828 - MYRF Q9Y2G1 VAR_038907 p.Ala723Thr Polymorphism rs34038946 - MYRIP Q8NFW9 VAR_051717 p.Pro673Ser Polymorphism rs34800524 - MYRIP Q8NFW9 VAR_061755 p.Ala312Thr Polymorphism rs59923220 - MYRIP Q8NFW9 VAR_061756 p.Pro365Leu Polymorphism rs55785561 - MYSM1 Q5VVJ2 VAR_051814 p.Cys200Ser Polymorphism rs17118103 - MYSM1 Q5VVJ2 VAR_051815 p.Thr264Ala Polymorphism rs12139511 - MYSM1 Q5VVJ2 VAR_051816 p.Glu825Lys Polymorphism rs232777 - MYZAP P0CAP1 VAR_055453 p.Ala277Val Polymorphism rs16977629 - MZF1 P28698 VAR_014826 p.Ile331Val Polymorphism rs4756 - MZF1 P28698 VAR_047677 p.Arg51His Polymorphism rs3752109 - MZF1 P28698 VAR_047678 p.Arg103His Polymorphism rs3752110 - MZF1 P28698 VAR_047679 p.Arg130Gln Polymorphism rs3752111 - MZF1 P28698 VAR_047680 p.Arg441Pro Polymorphism rs2229255 - MZT1 Q08AG7 VAR_043562 p.Ser5Gly Polymorphism rs1465896 - MZT2B Q6NZ67 VAR_043853 p.Ala118Val Polymorphism rs1043059 - MZT2B Q6NZ67 VAR_043854 p.Arg155Gln Polymorphism rs1043152 - N4BP2L2 Q92802 VAR_034765 p.Tyr272His Polymorphism rs34062461 - N4BP2 Q86UW6 VAR_035474 p.Pro283Ala Unclassified - A breast cancer sample N4BP2 Q86UW6 VAR_051215 p.Ser101Ile Polymorphism rs17511668 - N4BP2 Q86UW6 VAR_051216 p.Met196Val Polymorphism rs10014170 - N4BP2 Q86UW6 VAR_051217 p.Asp611Asn Polymorphism rs794001 - N4BP2 Q86UW6 VAR_051218 p.Thr1587Ala Polymorphism rs2271395 - N6AMT1 Q9Y5N5 VAR_060445 p.Asn34Asp Polymorphism rs1997607 - N6AMT1 Q9Y5N5 VAR_060446 p.Lys146Arg Polymorphism rs2205447 - N6AMT1 Q9Y5N5 VAR_060447 p.Lys166Arg Polymorphism rs2205446 - N6AMT2 Q8WVE0 VAR_037216 p.Thr193Asn Polymorphism rs11549810 - NAA11 Q9BSU3 VAR_048164 p.Ala6Thr Polymorphism rs3811765 - NAA11 Q9BSU3 VAR_048165 p.Leu19Phe Polymorphism rs17003712 - NAA16 Q6N069 VAR_052618 p.Glu344Gly Polymorphism rs17062054 - NAA25 Q14CX7 VAR_033156 p.Lys876Arg Polymorphism rs12231744 - NAA25 Q14CX7 VAR_035872 p.Ser789Arg Unclassified - A breast cancer sample NAA25 Q14CX7 VAR_054099 p.Leu426Phe Polymorphism rs16941860 - NAA25 Q14CX7 VAR_054100 p.Leu915Ile Polymorphism rs12298022 - NAA60 Q9H7X0 VAR_060995 p.His218Gln Polymorphism rs34464545 - NAAA Q02083 VAR_028428 p.Val151Ile Polymorphism rs4859571 - NAAA Q02083 VAR_048336 p.Asn107Lys Polymorphism rs34751328 - NAAA Q02083 VAR_048337 p.Phe334Leu Polymorphism rs6823734 - NAALAD2 Q9Y3Q0 VAR_034120 p.Val101Ile Polymorphism rs11018879 - NAALAD2 Q9Y3Q0 VAR_034121 p.Ile446Val Polymorphism rs10830430 - NAALADL1 Q9UQQ1 VAR_057155 p.Gln2His Polymorphism rs35422506 - NAALADL1 Q9UQQ1 VAR_057156 p.Lys398Thr Polymorphism rs12223986 - NAALADL1 Q9UQQ1 VAR_057157 p.Leu611Val Polymorphism rs36053340 - NAALADL2 Q58DX5 VAR_038288 p.Gly68Ser Polymorphism rs9823911 - NAALADL2 Q58DX5 VAR_038289 p.Ile128Met Polymorphism rs9836841 - NAALADL2 Q58DX5 VAR_038290 p.Met194Thr Polymorphism rs4371530 - NAALADL2 Q58DX5 VAR_038291 p.Pro385Ser Polymorphism rs6802937 - NAALADL2 Q58DX5 VAR_038292 p.Pro622Arg Polymorphism rs9866564 - NAALADL2 Q58DX5 VAR_038293 p.Leu677Ser Polymorphism rs9826737 - NABP1 Q96AH0 VAR_043340 p.Thr154Ser Polymorphism rs12612256 - NACA2 Q9H009 VAR_050218 p.Val64Ile Polymorphism rs17531723 - NACAD O15069 VAR_031195 p.Asp438Glu Polymorphism rs3735495 - NACAD O15069 VAR_031196 p.Val498Ala Polymorphism rs3735494 - NACAD O15069 VAR_031197 p.Lys591Glu Polymorphism rs7777835 - NACAD O15069 VAR_031198 p.Asp1105Glu Polymorphism rs10243185 - NACAD O15069 VAR_031199 p.Cys1152Phe Polymorphism rs3735493 - NADK O95544 VAR_034119 p.Asn262Lys Polymorphism rs4751 - NADSYN1 Q6IA69 VAR_026497 p.Val74Leu Polymorphism rs2276360 - NADSYN1 Q6IA69 VAR_056204 p.Pro297Leu Polymorphism rs7121106 - NADSYN1 Q6IA69 VAR_056205 p.Met591Ile Polymorphism rs35007971 - NADSYN1 Q6IA69 VAR_056206 p.Gly704Ser Polymorphism rs12282060 - NADSYN1 Q6IA69 VAR_058703 p.Gln204His Polymorphism rs7950441 - NAE1 Q13564 VAR_052435 p.Ser101Phe Polymorphism rs363212 - NAF1 Q96HR8 VAR_057795 p.Pro43Ser Polymorphism rs12331663 - NAF1 Q96HR8 VAR_063101 p.Ile162Val Polymorphism rs4691896 - NAGA P17050 VAR_000496 p.Ser160Cys Disease - Schindler disease (SCHIND) [MIM:609241] NAGA P17050 VAR_000497 p.Glu325Lys Disease - Schindler disease (SCHIND) [MIM:609241] NAGA P17050 VAR_000498 p.Arg329Trp Disease - Kanzaki disease (KANZD) [MIM:609242] NAGA P17050 VAR_022525 p.Arg329Gln Disease - Kanzaki disease (KANZD) [MIM:609242] NAGK Q9UJ70 VAR_029763 p.Trp38Arg Polymorphism rs17856147 - NAGK Q9UJ70 VAR_029764 p.Ala60Val Polymorphism rs17849984 - NAGLT1 Q5TF39 VAR_033192 p.Ser93Pro Polymorphism rs17853558 - NAGLU P54802 VAR_005007 p.Tyr92His Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005008 p.Pro115Ser Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005009 p.Tyr140Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005010 p.Glu153Lys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005011 p.Pro358Leu Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005012 p.Arg643His Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005013 p.Ala664Val Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005014 p.Arg674His Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_005015 p.Leu682Arg Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008979 p.Gly79Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008980 p.His100Arg Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008982 p.Pro243Leu Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008983 p.Cys277Phe Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008984 p.Leu280Pro Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008985 p.Gly292Arg Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008986 p.Glu452Lys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008987 p.Arg482Trp Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008988 p.Leu561Arg Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008989 p.Arg565Gln Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008990 p.Glu705Lys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_008991 p.Arg737Gly Polymorphism rs86312 - NAGLU P54802 VAR_025489 p.Phe48Leu Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025490 p.Phe314Leu Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025491 p.Pro521Leu Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025492 p.Arg565Pro Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025493 p.Arg565Trp Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_025494 p.Arg643Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054699 p.Leu35Phe Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054700 p.Arg38Trp Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054701 p.Phe48Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054702 p.Gly69Ser Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054703 p.Val77Gly Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054704 p.Gly79Ser Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054705 p.Gly82Asp Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054706 p.Arg130Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054707 p.Ile154Arg Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054708 p.Trp156Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054709 p.His227Pro Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054710 p.Arg234Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054711 p.Val241Met Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054712 p.Leu242Pro Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054713 p.Ala246Pro Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054714 p.His248Arg Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054715 p.Trp268Arg Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054716 p.Tyr309Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054717 p.Val334Phe Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054718 p.Tyr335Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054719 p.Phe410Ser Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054720 p.Gly412Glu Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054721 p.His414Arg Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054722 p.Thr437Ile Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054723 p.Glu446Lys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054724 p.Tyr455Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054725 p.Trp474Gly Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054726 p.Arg482Gln Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054727 p.Val501Gly Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054728 p.Pro516Leu Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054729 p.Arg520Trp Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054730 p.Ser534Tyr Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054731 p.Leu560Pro Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054732 p.Leu591Pro Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054733 p.Ser612Gly Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054734 p.Leu617Phe Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054735 p.Trp649Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054736 p.Gly650Glu Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054737 p.Tyr658Phe Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054738 p.Arg674Cys Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGLU P54802 VAR_054739 p.Arg676Pro Disease - Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] NAGPA Q9UK23 VAR_020609 p.Thr465Ile Polymorphism rs7188856 - NAGS Q8N159 VAR_023505 p.Cys200Arg Disease - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023506 p.Ala279Pro Disease - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023507 p.Ser410Pro Disease - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023508 p.Leu430Pro Disease - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023509 p.Trp484Arg Disease - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAGS Q8N159 VAR_023510 p.Ala518Thr Disease - N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] NAIP Q13075 VAR_026477 p.Val535Met Polymorphism - - NAMPT P43490 VAR_036614 p.Leu176Ser Unclassified - A colorectal cancer sample NANOG Q9H9S0 VAR_029384 p.Lys82Asn Polymorphism rs2889551 - NANOS2 P60321 VAR_065246 p.His68Gln Polymorphism - - NANS Q9NR45 VAR_013308 p.Glu68Asp Polymorphism rs1058446 - NAP1L3 Q99457 VAR_024545 p.Pro224Ala Polymorphism rs1045686 - NAP1L5 Q96NT1 VAR_050227 p.Glu154Gln Polymorphism rs13109442 - NAPB Q9H115 VAR_052026 p.Ala61Thr Polymorphism rs6036399 - NAPEPLD Q6IQ20 VAR_038694 p.Asp389Asn Polymorphism rs3181009 - NAPEPLD Q6IQ20 VAR_038695 p.Ser152Ala Polymorphism rs12540583 - NAPG Q99747 VAR_020129 p.Lys281Asn Polymorphism rs2305370 - NAPG Q99747 VAR_052027 p.Pro92Ser Polymorphism rs16974765 - NAPRT1 Q6XQN6 VAR_038275 p.Ala57Val Polymorphism rs896950 - NAPSA O96009 VAR_024586 p.Ala310Thr Polymorphism rs11670727 - NAPSA O96009 VAR_051510 p.Ile40Thr Polymorphism rs676314 - NARFL Q9H6Q4 VAR_053911 p.Val38Met Polymorphism rs8045850 - NARFL Q9H6Q4 VAR_053912 p.His444Arg Polymorphism rs7188554 - NARS2 Q96I59 VAR_052636 p.Asn87Thr Polymorphism rs10501429 - NASP P49321 VAR_052619 p.Val620Gly Polymorphism rs34618000 - NAT10 Q9H0A0 VAR_059858 p.Tyr461His Polymorphism rs2957516 - NAT10 Q9H0A0 VAR_061894 p.Ala983Thr Polymorphism rs36006049 - NAT16 Q8N8M0 VAR_036903 p.Phe63Ser Polymorphism rs34985488 - NAT1 P18440 VAR_004606 p.Arg64Trp Polymorphism rs56379106 - NAT1 P18440 VAR_004607 p.Val149Ile Polymorphism rs4987076 - NAT1 P18440 VAR_009069 p.Arg187Gln Polymorphism rs4986782 - NAT1 P18440 VAR_009070 p.Met205Val Polymorphism - - NAT1 P18440 VAR_009071 p.Ser214Ala Polymorphism rs4986783 - NAT1 P18440 VAR_009072 p.Asp251Val Polymorphism rs56172717 - NAT1 P18440 VAR_009073 p.Glu261Lys Polymorphism - - NAT1 P18440 VAR_009074 p.Ile263Val Polymorphism - - NAT1 P18440 VAR_009510 p.Arg117Thr Polymorphism rs55641436 - NAT1 P18440 VAR_020384 p.Thr207Ile Polymorphism rs4987195 - NAT2 P11245 VAR_004608 p.Arg64Gln Polymorphism rs1801279 - NAT2 P11245 VAR_004609 p.Ile114Thr Polymorphism rs1801280 - NAT2 P11245 VAR_004610 p.Arg197Gln Polymorphism rs1799930 - NAT2 P11245 VAR_004611 p.Lys268Arg Polymorphism rs1208 - NAT2 P11245 VAR_004612 p.Gly286Glu Polymorphism rs1799931 - NAT2 P11245 VAR_009075 p.Arg64Trp Polymorphism rs1805158 - NAT2 P11245 VAR_009076 p.Gln145Pro Polymorphism - - NAT2 P11245 VAR_009077 p.Lys282Thr Polymorphism rs56054745 - NAT2 P11245 VAR_018853 p.Leu24Ile Polymorphism rs45477599 - NAT2 P11245 VAR_018854 p.Pro228Leu Polymorphism rs45518335 - NAT2 P11245 VAR_020385 p.Asp122Asn Polymorphism rs4986996 - NAT2 P11245 VAR_020386 p.Leu137Phe Polymorphism rs4986997 - NAT2 P11245 VAR_028781 p.Thr193Met Polymorphism - - NAT2 P11245 VAR_028782 p.Tyr208His Polymorphism rs56387565 - NAT2 P11245 VAR_046905 p.Leu135Val Polymorphism rs12720065 - NAT2 P11245 VAR_061368 p.Val280Met Polymorphism rs56393504 - NAT6 Q93015 VAR_014224 p.Arg145Ser Unclassified - Non-small cell lung cancer cell lines NAT6 Q93015 VAR_014225 p.Thr207Ser Unclassified - Non-small cell lung cancer cell lines NAT8 Q9UHE5 VAR_031805 p.Phe143Ser Polymorphism rs13538 - NAT8 Q9UHE5 VAR_053886 p.Glu104Lys Polymorphism rs13424561 - NAT9 Q9BTE0 VAR_032225 p.Cys56Arg Polymorphism rs2305213 - NAV1 Q8NEY1 VAR_032245 p.Gln937His Polymorphism rs16849342 - NAV1 Q8NEY1 VAR_032246 p.Ser1273Leu Polymorphism rs2820289 - NAV1 Q8NEY1 VAR_032247 p.His1290Asp Polymorphism rs2292822 - NAV1 Q8NEY1 VAR_032248 p.Val1527Ile Polymorphism rs16849379 - NAV2 Q8IVL1 VAR_029640 p.Arg109Lys Polymorphism rs6483617 - NAV2 Q8IVL1 VAR_029641 p.Gln491His Polymorphism rs16937251 - NAV2 Q8IVL1 VAR_029642 p.Glu1041Asp Polymorphism rs3802799 - NAV2 Q8IVL1 VAR_029643 p.Pro1077Ala Polymorphism rs3802800 - NAV2 Q8IVL1 VAR_032252 p.Val2374Ile Polymorphism rs35891966 - NAV3 Q8IVL0 VAR_032249 p.Thr45Ala Polymorphism rs10735309 - NAV3 Q8IVL0 VAR_032250 p.Ser210Trp Polymorphism rs34195711 - NAV3 Q8IVL0 VAR_032251 p.Glu2200Lys Unclassified - - NBAS A2RRP1 VAR_057611 p.Ile243Val Polymorphism rs13029846 - NBAS A2RRP1 VAR_057612 p.Lys655Arg Polymorphism rs4668909 - NBAS A2RRP1 VAR_057613 p.Arg1004Gln Polymorphism rs16862653 - NBAS A2RRP1 VAR_057614 p.Ser1178Asn Polymorphism rs35770368 - NBAS A2RRP1 VAR_057615 p.Ala2074Thr Polymorphism rs6710817 - NBEAL2 Q6ZNJ1 VAR_043133 p.Arg447His Polymorphism rs17079425 - NBEAL2 Q6ZNJ1 VAR_043134 p.Arg511Gly Polymorphism rs11720139 - NBEAL2 Q6ZNJ1 VAR_043135 p.Ala1877Gly Polymorphism rs4682830 - NBEAL2 Q6ZNJ1 VAR_043136 p.Ser2054Phe Polymorphism rs2305637 - NBEAL2 Q6ZNJ1 VAR_043137 p.Glu2747Lys Polymorphism rs12893 - NBEAP1 P0C6P0 VAR_039648 p.Val33Ala Polymorphism rs6422240 - NBEAP1 P0C6P0 VAR_039649 p.Thr54Ile Polymorphism rs6422239 - NBEAP1 P0C6P0 VAR_039650 p.Cys81Arg Polymorphism rs7497658 - NBEA Q8NFP9 VAR_047658 p.Ala569Pro Polymorphism rs5011295 - NBEA Q8NFP9 VAR_047659 p.Ile2501Val Polymorphism rs11538677 - NBN O60934 VAR_025792 p.Ser93Leu Unclassified rs12721593 - NBN O60934 VAR_025793 p.Asp95Asn Unclassified - - NBN O60934 VAR_025794 p.Lys105Asn Polymorphism rs13312858 - NBN O60934 VAR_025795 p.Leu150Phe Disease - Breast cancer (BC) [MIM:114480] NBN O60934 VAR_025796 p.Ile171Val Unclassified - - NBN O60934 VAR_025797 p.Glu185Gln Polymorphism rs1805794 - NBN O60934 VAR_025798 p.Val210Phe Polymorphism - - NBN O60934 VAR_025799 p.Arg215Trp Polymorphism rs34767364 - NBN O60934 VAR_025800 p.Gln216Lys Polymorphism rs769416 - NBN O60934 VAR_025801 p.Pro266Leu Polymorphism rs769420 - NBN O60934 VAR_025802 p.Thr497Ala Polymorphism rs3026268 - NBN O60934 VAR_025803 p.Leu574Ile Polymorphism - - NBN O60934 VAR_051226 p.Asn142Ser Polymorphism rs769414 - NBN O60934 VAR_051227 p.Lys408Glu Polymorphism rs34120922 - NBN O60934 VAR_064738 p.Tyr679His Unclassified - - NBPF14 Q5TI25 VAR_032381 p.Ser243Gly Polymorphism rs3871941 - NBPF14 Q5TI25 VAR_032382 p.Arg571Cys Polymorphism rs17433673 - NBPF15 Q8N660 VAR_032383 p.Pro615Gln Polymorphism rs6695216 - NBPF1 Q3BBV0 VAR_032364 p.Ile20Met Polymorphism rs9730080 - NBPF1 Q3BBV0 VAR_032365 p.Asn31Lys Polymorphism rs9730077 - NBPF1 Q3BBV0 VAR_032366 p.Ala510Thr Polymorphism rs681623 - NBPF1 Q3BBV0 VAR_032367 p.Cys591Gly Polymorphism rs3738661 - NBPF1 Q3BBV0 VAR_032368 p.Val612Met Polymorphism rs672812 - NBPF1 Q3BBV0 VAR_032369 p.Arg663Cys Polymorphism rs28453011 - NBPF1 Q3BBV0 VAR_032370 p.His712Asp Polymorphism rs3901680 - NBPF1 Q3BBV0 VAR_032371 p.Lys726Glu Polymorphism rs3901679 - NBPF1 Q3BBV0 VAR_032372 p.Gln734Pro Polymorphism rs9727080 - NBPF1 Q3BBV0 VAR_032373 p.Gln850Lys Polymorphism rs11581926 - NBPF3 Q9H094 VAR_032374 p.Tyr114Cys Polymorphism rs1827293 - NBPF3 Q9H094 VAR_032375 p.Leu459Val Polymorphism rs12034222 - NBPF3 Q9H094 VAR_047965 p.Asp444Glu Polymorphism rs12043777 - NBPF3 Q9H094 VAR_053909 p.Arg198Gln Polymorphism rs16825377 - NBPF7 P0C2Y1 VAR_032376 p.Glu170Asp Polymorphism rs6678923 - NBR1 Q14596 VAR_016106 p.His923Arg Polymorphism rs8482 - NBR2 O15453 VAR_034096 p.Gln102Glu Polymorphism rs11657835 - NCAM1 P13591 VAR_049960 p.Asp260Asn Polymorphism rs17115160 - NCAM1 P13591 VAR_049961 p.Glu679Asp Polymorphism rs17115280 - NCAM1 P13591 VAR_049962 p.Thr834Met Polymorphism rs17174409 - NCAM1 P13591 VAR_061331 p.Leu7Phe Polymorphism rs7105734 - NCAM2 O15394 VAR_047897 p.Asp347Asn Polymorphism rs35654962 - NCAM2 O15394 VAR_047898 p.Leu350Pro Polymorphism rs232518 - NCAN O14594 VAR_016176 p.Ala1254Val Polymorphism rs1064389 - NCAN O14594 VAR_020213 p.Pro92Ser Polymorphism rs2228603 - NCAN O14594 VAR_024521 p.Ala70Thr Polymorphism rs2228601 - NCAPD2 Q15021 VAR_024421 p.Gln83Glu Polymorphism rs714774 - NCAPD2 Q15021 VAR_024422 p.Val797Met Polymorphism rs10849482 - NCAPD2 Q15021 VAR_057511 p.Lys580Arg Polymorphism rs17725914 - NCAPD2 Q15021 VAR_058713 p.Thr1321Ser Polymorphism rs2240871 - NCAPD3 P42695 VAR_053043 p.Arg622Gln Polymorphism rs12292394 - NCAPD3 P42695 VAR_053044 p.Pro907Thr Polymorphism rs34739733 - NCAPD3 P42695 VAR_053045 p.Ser1034Arg Polymorphism rs7927108 - NCAPG2 Q86XI2 VAR_053046 p.Thr794Met Polymorphism rs10248318 - NCAPG2 Q86XI2 VAR_053047 p.Glu867Asp Polymorphism rs3214000 - NCAPG Q9BPX3 VAR_036125 p.Met265Thr Unclassified - A colorectal cancer sample NCAPG Q9BPX3 VAR_053041 p.Ala64Pro Polymorphism rs35722563 - NCAPG Q9BPX3 VAR_053042 p.Met581Ile Polymorphism rs3795243 - NCAPH Q15003 VAR_027882 p.Val539Ala Polymorphism rs2305935 - NCDN Q9UBB6 VAR_039849 p.Val392Glu Unclassified - A colorectal cancer sample NCDN Q9UBB6 VAR_039850 p.Val392Leu Unclassified - A colorectal cancer sample NCEH1 Q6PIU2 VAR_047099 p.Val19Phe Polymorphism rs35316420 - NCEH1 Q6PIU2 VAR_047100 p.Lys71Gln Polymorphism rs2302815 - NCEH1 Q6PIU2 VAR_047101 p.Leu343Met Polymorphism rs17857335 - NCF1 P14598 VAR_012476 p.Arg42Gln Disease - Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700] NCF1 P14598 VAR_012477 p.Thr160Ser Polymorphism - - NCF1 P14598 VAR_012478 p.Asn166Asp Polymorphism rs4868 - NCF1 P14598 VAR_012479 p.Gly262Ser Polymorphism - - NCF1 P14598 VAR_012480 p.Ala308Val Polymorphism rs13739 - NCF1 P14598 VAR_014735 p.Arg90His Polymorphism rs13447 - NCF1 P14598 VAR_018476 p.Lys258Glu Polymorphism - - NCF1 P14598 VAR_018479 p.Gly99Ser Polymorphism rs17856077 - NCF2 P19878 VAR_008904 p.Gly78Glu Disease rs137854519 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_008905 p.Arg395Trp Polymorphism rs13306575 - NCF2 P19878 VAR_017388 p.Arg77Gln Disease rs119103275 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_017389 p.Ala128Val Disease rs119103274 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_018477 p.Lys181Arg Polymorphism rs2274064 - NCF2 P19878 VAR_018478 p.Arg328Lys Polymorphism rs137854511 - NCF2 P19878 VAR_034129 p.Thr279Met Polymorphism rs13306581 - NCF2 P19878 VAR_034130 p.Val297Ala Polymorphism rs35937854 - NCF2 P19878 VAR_052620 p.His389Gln Polymorphism rs17849502 - NCF2 P19878 VAR_052621 p.Asn419Ile Disease rs35012521 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065002 p.Asn42Ser Disease rs137854514 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065003 p.Gly44Cys Disease rs137854510 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065004 p.Gly44Arg Disease rs137854510 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065006 p.Met79Val Polymorphism rs137854512 - NCF2 P19878 VAR_065007 p.Asp93Glu Disease rs137854507 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065009 p.Arg102Pro Disease rs137854515 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065010 p.Asp108Val Disease rs137854509 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065011 p.Trp137Arg Disease rs137854516 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065012 p.Ala140Asp Disease rs137854520 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065013 p.Gln169Glu Disease rs137854517 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065014 p.Arg184Pro Disease rs137854518 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065016 p.Ala202Val Disease rs137854508 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] NCF2 P19878 VAR_065017 p.Gly369Arg Polymorphism rs137854513 - NCF4 Q15080 VAR_009314 p.Leu147Ile Polymorphism - - NCF4 Q15080 VAR_034136 p.Arg153His Polymorphism rs35160112 - NCK1 P16333 VAR_051228 p.Ala180Val Polymorphism rs13320485 - NCKAP1L P55160 VAR_049344 p.Ser402Leu Polymorphism rs2270581 - NCKAP1L P55160 VAR_059316 p.Thr391Ala Polymorphism rs7311877 - NCKAP5 O14513 VAR_051220 p.Ser600Thr Polymorphism rs17325719 - NCKAP5 O14513 VAR_051221 p.Val937Ile Polymorphism rs12611515 - NCKAP5 O14513 VAR_051222 p.Ile977Thr Polymorphism rs12691830 - NCKAP5 O14513 VAR_051223 p.Asn1093Tyr Polymorphism rs16841277 - NCKAP5 O14513 VAR_051224 p.Pro1260Gln Polymorphism rs13016342 - NCKAP5 O14513 VAR_051225 p.Val1403Ala Polymorphism rs2278752 - NCKAP5 O14513 VAR_061686 p.Arg250Gln Polymorphism rs58963837 - NCKIPSD Q9NZQ3 VAR_051378 p.Thr324Ser Polymorphism rs6785620 - NCKIPSD Q9NZQ3 VAR_063400 p.Tyr660Ser Polymorphism rs17855516 - NCLN Q969V3 VAR_022552 p.Lys551Arg Polymorphism rs2288949 - NCLN Q969V3 VAR_050276 p.Glu214Asp Polymorphism rs11671067 - NCL P19338 VAR_046353 p.Pro68Leu Polymorphism rs11542691 - NCL P19338 VAR_046354 p.Pro122Leu Polymorphism rs11542687 - NCL P19338 VAR_046355 p.Ala174Val Polymorphism rs11542689 - NCOA1 Q15788 VAR_019768 p.Gln457Lys Polymorphism rs1049015 - NCOA1 Q15788 VAR_019769 p.Asn466Lys Polymorphism rs1049016 - NCOA1 Q15788 VAR_019770 p.Ser474Pro Polymorphism rs1049018 - NCOA1 Q15788 VAR_019771 p.Ile591Thr Polymorphism rs1049020 - NCOA1 Q15788 VAR_019772 p.Glu685Ala Polymorphism rs1049021 - NCOA1 Q15788 VAR_019773 p.Pro794Ala Polymorphism rs1049025 - NCOA1 Q15788 VAR_019774 p.Ser999Phe Polymorphism rs1049032 - NCOA1 Q15788 VAR_019775 p.Met1154Thr Polymorphism rs1049038 - NCOA1 Q15788 VAR_034882 p.Pro1272Ser Polymorphism rs1804645 - NCOA1 Q15788 VAR_038832 p.Val1238Ile Polymorphism rs56099330 - NCOA2 Q15596 VAR_024546 p.Met1282Ile Polymorphism rs2228591 - NCOA3 Q9Y6Q9 VAR_013831 p.Gly460Arg Polymorphism rs1052765 - NCOA3 Q9Y6Q9 VAR_013832 p.Pro559Ser Polymorphism rs2230781 - NCOA3 Q9Y6Q9 VAR_013833 p.Gln586His Polymorphism rs2230782 - NCOA3 Q9Y6Q9 VAR_053527 p.Arg218Cys Polymorphism rs6094752 - NCOA3 Q9Y6Q9 VAR_053528 p.Leu369Phe Polymorphism rs6094756 - NCOA3 Q9Y6Q9 VAR_053529 p.Ser777Ala Polymorphism rs2230783 - NCOA3 Q9Y6Q9 VAR_060695 p.Arg220Ile Polymorphism - - NCOA3 Q9Y6Q9 VAR_060696 p.Ile556Val Polymorphism - - NCOA3 Q9Y6Q9 VAR_060697 p.Met1247Lys Polymorphism - - NCOA3 Q9Y6Q9 VAR_060698 p.Met1247Leu Polymorphism - - NCOA4 Q13772 VAR_009190 p.Ser94Leu Polymorphism - - NCOA4 Q13772 VAR_009191 p.Phe154Leu Polymorphism - - NCOA4 Q13772 VAR_009192 p.Cys350Arg Polymorphism - - NCOA4 Q13772 VAR_009193 p.Leu561Pro Polymorphism - - NCOA4 Q13772 VAR_014928 p.Pro474Arg Polymorphism rs1132111 - NCOA5 Q9HCD5 VAR_053530 p.Glu326Gly Polymorphism rs11549557 - NCOA6 Q14686 VAR_027874 p.Pro512Leu Polymorphism rs6060031 - NCOA6 Q14686 VAR_027875 p.Asn955Ser Polymorphism rs17092079 - NCOA6 Q14686 VAR_027876 p.Ile1995Val Polymorphism rs6060022 - NCOA6 Q14686 VAR_036551 p.Pro1060Ser Unclassified - A breast cancer sample NCOA6 Q14686 VAR_036552 p.Ser1191Arg Unclassified - A breast cancer sample NCOA7 Q8NI08 VAR_026965 p.Ser399Ala Polymorphism rs6919947 - NCOA7 Q8NI08 VAR_026966 p.Asp942Glu Polymorphism rs1567 - NCOA7 Q8NI08 VAR_050438 p.Gly533Arg Polymorphism rs35223550 - NCOR2 Q9Y618 VAR_054751 p.Ala1707Thr Polymorphism rs2229840 - NCOR2 Q9Y618 VAR_060073 p.Gly781Glu Polymorphism rs7978237 - NCOR2 Q9Y618 VAR_060074 p.Pro2012Ser Polymorphism rs2230944 - NCR1 O76036 VAR_018633 p.Lys82Gln Polymorphism rs2278428 - NCR1 O76036 VAR_035527 p.Asp87Tyr Unclassified - A colorectal cancer sample NCR2 O95944 VAR_018634 p.Met75Val Polymorphism rs9471577 - NCR2 O95944 VAR_018635 p.Ser139Pro Polymorphism rs2236369 - NCR2 O95944 VAR_018636 p.Ile218Lys Polymorphism rs2273961 - NCR2 O95944 VAR_018637 p.Met223Val Polymorphism rs2273962 - NCR3 O14931 VAR_044114 p.Ala103Thr Polymorphism rs11575840 - NCR3 O14931 VAR_044115 p.Arg174Ser Polymorphism rs3179003 - NCSTN Q92542 VAR_050274 p.Val75Ile Polymorphism rs12045198 - NCSTN Q92542 VAR_050275 p.Glu77Asp Polymorphism rs35603924 - NDC80 O14777 VAR_027436 p.Ser66Ala Polymorphism rs16943490 - NDC80 O14777 VAR_027437 p.Glu348Asp Polymorphism rs12456560 - NDC80 O14777 VAR_027438 p.Ala605Pro Polymorphism rs1983346 - NDFIP2 Q9NV92 VAR_023414 p.Ala136Val Polymorphism rs11549502 - NDFIP2 Q9NV92 VAR_061687 p.Pro124Ser Polymorphism rs55887763 - NDOR1 Q9UHB4 VAR_039010 p.Val522Ile Polymorphism - - NDP Q00604 VAR_005478 p.Leu13Arg Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005479 p.Cys39Arg Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005480 p.Arg41Lys Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005481 p.His42Arg Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005482 p.Tyr44Cys Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005483 p.Lys58Asn Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005483 p.Lys58Asn Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005484 p.Val60Glu Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005485 p.Leu61Phe Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005486 p.Leu61Pro Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005487 p.Ala63Asp Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005488 p.Cys65Tyr Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005489 p.Cys69Ser Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005490 p.Cys65Trp Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005491 p.Arg74Cys Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005492 p.Ser75Cys Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005494 p.Arg90Pro Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005496 p.Cys96Tyr Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005497 p.Ser101Phe Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005498 p.Lys104Gln Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005499 p.Tyr120Cys Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005500 p.Arg121Gly Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005501 p.Arg121Gln Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005501 p.Arg121Gln Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005502 p.Arg121Trp Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005502 p.Arg121Trp Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_005504 p.Ile123Asn Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_005505 p.Leu124Phe Disease rs28933684 Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_009275 p.Cys96Trp Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_016048 p.Leu16Pro Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_016049 p.Ser75Pro Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_016050 p.Ala105Thr Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_016051 p.Cys110Gly Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_034137 p.Asp23Glu Polymorphism rs5952410 - NDP Q00604 VAR_063998 p.Ile18Lys Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_063999 p.Arg38Cys Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_063999 p.Arg38Cys Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064000 p.Arg41Ser Unclassified - - NDP Q00604 VAR_064001 p.His43Gln Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064002 p.His43Arg Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064003 p.Val45Glu Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064004 p.Val45Met Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064005 p.Lys54Asn Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064006 p.Cys55Arg Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064007 p.Leu61Ile Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064008 p.Gly67Glu Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064009 p.Gly67Arg Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064010 p.Phe89Leu Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064011 p.Arg90Cys Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064012 p.Ser92Pro Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064013 p.Cys95Phe Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064014 p.Cys95Arg Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064015 p.Arg97Pro Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064016 p.Pro98Leu Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064017 p.Leu103Val Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064018 p.Lys104Asn Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064019 p.Leu108Pro Unclassified - - NDP Q00604 VAR_064020 p.Cys110Arg Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064021 p.Gly112Glu Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064022 p.Arg115Leu Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064023 p.Ala118Asp Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064024 p.Arg121Leu Disease - Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] NDP Q00604 VAR_064025 p.Cys126Ser Disease - Norrie disease (ND) [MIM:310600] NDP Q00604 VAR_064026 p.Cys128Arg Disease - Norrie disease (ND) [MIM:310600] NDRG1 Q92597 VAR_050234 p.Met67Val Polymorphism rs2233319 - NDRG1 Q92597 VAR_050235 p.Met111Leu Polymorphism rs2233328 - NDRG2 Q9UN36 VAR_026572 p.Gly48Val Polymorphism rs11552412 - NDRG2 Q9UN36 VAR_050236 p.Thr45Ser Polymorphism rs36007455 - NDST3 O95803 VAR_036131 p.His264Gln Unclassified - A colorectal cancer sample NDST4 Q9H3R1 VAR_061890 p.Arg12Gln Polymorphism rs35181627 - NDUFA10 O95299 VAR_034149 p.Ala2Gly Polymorphism rs11541494 - NDUFA12 Q9UI09 VAR_060682 p.Thr104Ala Polymorphism rs17850017 - NDUFA13 Q9P0J0 VAR_045984 p.Lys5Asn Unclassified - A Hurthle cell variant of papillary carcinoma sample NDUFA13 Q9P0J0 VAR_045985 p.Arg115Pro Unclassified - A Hurthle cell variant of papillary carcinoma sample NDUFA1 O15239 VAR_014485 p.Gly32Arg Polymorphism rs1801316 - NDUFA1 O15239 VAR_035099 p.Gly8Arg Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFA1 O15239 VAR_035100 p.Arg37Ser Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFA1 O15239 VAR_036173 p.Arg53Cys Unclassified - A colorectal cancer sample NDUFA2 O43678 VAR_036174 p.Asp50Asn Unclassified - A breast cancer sample NDUFA3 O95167 VAR_036175 p.Asn62Asp Unclassified - A breast cancer sample NDUFA6 P56556 VAR_014483 p.Ala35Val Polymorphism rs1801311 - NDUFA7 O95182 VAR_050589 p.Pro66Ala Polymorphism rs2288415 - NDUFA8 P51970 VAR_036176 p.Asn140His Unclassified - A breast cancer sample NDUFAF1 Q9Y375 VAR_013559 p.Arg9His Polymorphism rs1899 - NDUFAF1 Q9Y375 VAR_013560 p.Arg31Leu Polymorphism rs3204853 - NDUFAF1 Q9Y375 VAR_013561 p.Glu176Lys Polymorphism rs35227875 - NDUFAF1 Q9Y375 VAR_013562 p.Ala314Gly Polymorphism rs12900702 - NDUFAF3 Q9BU61 VAR_058491 p.Gly77Arg Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFAF3 Q9BU61 VAR_058492 p.Arg122Pro Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFAF4 Q9P032 VAR_044329 p.Leu65Pro Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFAF5 Q5TEU4 VAR_035376 p.Leu337Phe Polymorphism rs6042368 - NDUFAF5 Q5TEU4 VAR_054119 p.Leu229Pro Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFAF6 Q330K2 VAR_047770 p.Gln99Arg Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFAF7 Q7L592 VAR_038274 p.Pro39Ala Polymorphism rs2714473 - NDUFB5 O43674 VAR_050590 p.Tyr133His Polymorphism rs4147793 - NDUFB7 P17568 VAR_050591 p.Arg106Gly Polymorphism rs3752220 - NDUFB9 Q9Y6M9 VAR_014484 p.Pro146Ser Polymorphism rs10195 - NDUFC2 O95298 VAR_014486 p.Leu46Val Polymorphism rs8875 - NDUFS1 P28331 VAR_018463 p.Val649Phe Polymorphism rs1044049 - NDUFS1 P28331 VAR_019532 p.Arg241Trp Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFS1 P28331 VAR_019533 p.Asp252Gly Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFS1 P28331 VAR_025511 p.Arg241Gln Polymorphism rs17856901 - NDUFS2 O75306 VAR_019535 p.Arg228Gln Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFS2 O75306 VAR_019536 p.Pro229Gln Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFS2 O75306 VAR_019537 p.Ser413Pro Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFS2 O75306 VAR_034150 p.Pro20Thr Polymorphism rs11538340 - NDUFS2 O75306 VAR_034151 p.Pro229Ala Polymorphism rs16827493 - NDUFS2 O75306 VAR_034152 p.Pro352Ala Polymorphism rs11576415 - NDUFS3 O75489 VAR_012036 p.Pro249Gln Polymorphism rs9600 - NDUFS4 O43181 VAR_012037 p.Thr174Pro Polymorphism rs1044692 - NDUFS5 O43920 VAR_064569 p.Pro96Ser Unclassified - - NDUFS7 O75251 VAR_008848 p.Val122Met Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFS7 O75251 VAR_014482 p.Pro23Leu Polymorphism rs1142530 - NDUFS8 O00217 VAR_019538 p.Pro79Leu Disease rs28939679 Leigh syndrome (LS) [MIM:256000] NDUFS8 O00217 VAR_019539 p.Arg102His Disease - Leigh syndrome (LS) [MIM:256000] NDUFV1 P49821 VAR_008846 p.Ala341Val Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFV1 P49821 VAR_008847 p.Thr423Met Disease - Leigh syndrome (LS) [MIM:256000] NDUFV1 P49821 VAR_014480 p.Ile76Val Polymorphism rs1800670 - NDUFV1 P49821 VAR_014481 p.Asn277Tyr Polymorphism rs1043770 - NDUFV1 P49821 VAR_019534 p.Glu214Lys Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] NDUFV2 P19404 VAR_016167 p.Val29Ala Polymorphism rs906807 - NEBL O76041 VAR_010289 p.Gln187His Polymorphism - - NEBL O76041 VAR_010290 p.Met351Val Polymorphism rs4025981 - NEBL O76041 VAR_010291 p.Asn654Lys Polymorphism rs4748728 - NEBL O76041 VAR_010292 p.Thr728Ala Polymorphism - - NEBL O76041 VAR_021887 p.Ala219Asp Polymorphism rs2296610 - NEBL O76041 VAR_051229 p.Asp378His Polymorphism rs41277370 - NEB P20929 VAR_021888 p.Gly5934Glu Polymorphism rs3732309 - NEB P20929 VAR_024240 p.Asp5030Val Polymorphism rs2288200 - NEB P20929 VAR_047692 p.Thr146Ala Polymorphism rs4077109 - NEB P20929 VAR_047693 p.Glu191Gln Polymorphism rs35686968 - NEB P20929 VAR_047694 p.Lys1027Asn Polymorphism rs6735208 - NEB P20929 VAR_047695 p.Tyr1301His Polymorphism rs6711382 - NEB P20929 VAR_047696 p.Glu1469Asp Polymorphism rs34800215 - NEB P20929 VAR_047697 p.Val1479Ile Polymorphism rs34577613 - NEB P20929 VAR_047698 p.Val1491Met Polymorphism rs7426114 - NEB P20929 VAR_047699 p.Tyr1969His Polymorphism rs34532796 - NEB P20929 VAR_047700 p.Lys2613Asn Polymorphism rs13013209 - NEB P20929 VAR_047701 p.Arg2773Gln Polymorphism rs35974308 - NEB P20929 VAR_047702 p.Ser2912Pro Polymorphism rs6713162 - NEB P20929 VAR_047703 p.Val2952Gly Polymorphism rs13024542 - NEB P20929 VAR_047704 p.Trp3360Cys Polymorphism rs10172023 - NEB P20929 VAR_047705 p.Ser3887Thr Polymorphism rs35227368 - NEB P20929 VAR_047706 p.Pro4271Leu Polymorphism rs4327235 - NEB P20929 VAR_047707 p.Asn4337Ser Polymorphism rs16830236 - NEB P20929 VAR_047708 p.Arg4401Thr Polymorphism rs2288210 - NEB P20929 VAR_047709 p.Arg5463Pro Polymorphism rs16830171 - NEB P20929 VAR_056953 p.Thr6131Ile Polymorphism rs34368668 - NEB P20929 VAR_056954 p.Ile6546Val Polymorphism rs1061305 - NECAB2 Q7Z6G3 VAR_048639 p.Gly233Ser Polymorphism rs2292323 - NECAB2 Q7Z6G3 VAR_048640 p.Thr235Ser Polymorphism rs2292324 - NECAB2 Q7Z6G3 VAR_048641 p.Gln308His Polymorphism rs2292329 - NECAB2 Q7Z6G3 VAR_048642 p.Leu353Val Polymorphism rs2271298 - NECAB3 Q96P71 VAR_048643 p.Pro254Leu Polymorphism rs17124890 - NECAP1 Q8NC96 VAR_034153 p.Asp224Asn Polymorphism rs2231752 - NECAP2 Q9NVZ3 VAR_034154 p.Asp149Ala Polymorphism rs35056694 - NEDD4L Q96PU5 VAR_023415 p.Pro355Leu Polymorphism - - NEDD4L Q96PU5 VAR_023416 p.Ser497Arg Polymorphism - - NEDD4 P46934 VAR_036472 p.Tyr627His Unclassified - A breast cancer sample NEDD4 P46934 VAR_047909 p.Arg679Gln Polymorphism rs2303580 - NEDD4 P46934 VAR_047910 p.Asn698Ser Polymorphism rs2303579 - NEDD4 P46934 VAR_061985 p.Met33Val Polymorphism rs1912403 - NEDD9 Q14511 VAR_021857 p.Thr577Met Polymorphism rs3734401 - NEDD9 Q14511 VAR_054082 p.Asp178Asn Polymorphism rs11546959 - NEDD9 Q14511 VAR_054083 p.Pro304Leu Polymorphism rs34184473 - NEFH P12036 VAR_026163 p.Glu811Ala Polymorphism rs165602 - NEFH P12036 VAR_054787 p.Pro575Ser Polymorphism rs6006164 - NEFH P12036 VAR_056025 p.Pro615Leu Polymorphism rs5763269 - NEFL P07196 VAR_009703 p.Gln332Pro Disease rs59443585 Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_016017 p.Glu7Lys Polymorphism rs57848467 - NEFL P07196 VAR_016018 p.Pro8Leu Disease - Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016019 p.Pro8Gln Disease - Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016020 p.Pro8Arg Disease rs60261494 Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016020 p.Pro8Arg Disease rs60261494 Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_016021 p.Pro22Ser Disease rs28928910 Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_016022 p.Glu90Lys Disease rs58332872 Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016023 p.Asn98Ser Disease rs58982919 Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_016024 p.Asp468Asn Polymorphism rs57153321 - NEFL P07196 VAR_021613 p.Leu336Pro Disease - Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] NEFL P07196 VAR_021614 p.Glu396Lys Disease - Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] NEFL P07196 VAR_021614 p.Glu396Lys Disease - Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] NEFM P07197 VAR_056024 p.Pro725Gln Polymorphism rs196863 - NEFM P07197 VAR_060732 p.Pro439Thr Polymorphism rs196864 - NEIL1 Q96FI4 VAR_020580 p.Ser82Cys Polymorphism rs5745905 - NEIL1 Q96FI4 VAR_020581 p.Gly83Asp Polymorphism rs5745906 - NEIL1 Q96FI4 VAR_020582 p.Cys136Arg Polymorphism rs5745907 - NEIL1 Q96FI4 VAR_020583 p.Ile182Met Polymorphism rs7183491 - NEIL1 Q96FI4 VAR_020584 p.Asp252Asn Polymorphism rs5745926 - NEIL1 Q96FI4 VAR_065018 p.Lys242Arg Unclassified - - NEIL2 Q969S2 VAR_020585 p.Thr70Ser Polymorphism rs8191611 - NEIL2 Q969S2 VAR_020586 p.Arg103Gln Polymorphism rs8191613 - NEIL2 Q969S2 VAR_020587 p.Arg103Trp Polymorphism rs8191612 - NEIL2 Q969S2 VAR_020588 p.Arg257Leu Polymorphism rs8191664 - NEIL2 Q969S2 VAR_020589 p.Pro304Thr Polymorphism rs8191666 - NEIL3 Q8TAT5 VAR_020590 p.Pro117Arg Polymorphism rs7689099 - NEIL3 Q8TAT5 VAR_020591 p.Pro443Leu Polymorphism rs13112358 - NEIL3 Q8TAT5 VAR_020592 p.Gly520Arg Polymorphism rs1876268 - NEIL3 Q8TAT5 VAR_025806 p.Arg38Cys Polymorphism rs34007209 - NEIL3 Q8TAT5 VAR_025808 p.Val76Met Polymorphism rs34112288 - NEIL3 Q8TAT5 VAR_025809 p.Gln172His Polymorphism rs17064658 - NEIL3 Q8TAT5 VAR_025810 p.His286Arg Polymorphism rs34193982 - NEIL3 Q8TAT5 VAR_025811 p.Ile346Val Polymorphism rs17064676 - NEIL3 Q8TAT5 VAR_025812 p.Gln471His Polymorphism rs13112390 - NEIL3 Q8TAT5 VAR_025813 p.Ala547Ser Polymorphism rs36005630 - NEIL3 Q8TAT5 VAR_025814 p.His556Arg Polymorphism rs35418725 - NEK10 Q6ZWH5 VAR_040928 p.Phe50Leu Polymorphism rs56125830 - NEK10 Q6ZWH5 VAR_040929 p.Ala66Val Unclassified - An ovarian mucinous carcinoma sample NEK10 Q6ZWH5 VAR_040930 p.Gly67Ser Polymorphism rs55958314 - NEK10 Q6ZWH5 VAR_040931 p.Glu379Lys Unclassified - A metastatic melanoma sample NEK10 Q6ZWH5 VAR_040932 p.Leu513Ser Polymorphism rs10510592 - NEK10 Q6ZWH5 VAR_040933 p.Asn659Ser Polymorphism rs55833401 - NEK10 Q6ZWH5 VAR_040934 p.Leu701Val Polymorphism - - NEK11 Q8NG66 VAR_033907 p.Val562Ala Polymorphism rs16836266 - NEK11 Q8NG66 VAR_040935 p.Thr108Met Unclassified - A colorectal adenocarcinoma sample NEK11 Q8NG66 VAR_040936 p.Tyr123Cys Polymorphism rs55806123 - NEK11 Q8NG66 VAR_040937 p.Ser213Leu Polymorphism rs55920129 - NEK11 Q8NG66 VAR_040938 p.Ile263Val Polymorphism rs35567155 - NEK11 Q8NG66 VAR_040939 p.Glu451Lys Polymorphism rs35409692 - NEK11 Q8NG66 VAR_040940 p.Glu488Val Polymorphism rs3738000 - NEK11 Q8NG66 VAR_040941 p.Glu492Lys Unclassified - A colorectal adenocarcinoma sample NEK11 Q8NG66 VAR_040942 p.Met548Thr Polymorphism rs55813244 - NEK11 Q8NG66 VAR_040943 p.Glu606Lys Polymorphism rs55944737 - NEK11 Q8NG66 VAR_040944 p.Asp617Asn Unclassified - A colorectal adenocarcinoma sample NEK1 Q96PY6 VAR_040900 p.Ile10Phe Polymorphism rs34214559 - NEK1 Q96PY6 VAR_040901 p.Glu25Lys Unclassified - A lung large cell carcinoma sample NEK1 Q96PY6 VAR_040902 p.Leu76Val Polymorphism rs35093214 - NEK1 Q96PY6 VAR_040903 p.Ala294Pro Unclassified - A lung adenocarcinoma sample NEK1 Q96PY6 VAR_040904 p.Arg355Gly Polymorphism rs35763578 - NEK1 Q96PY6 VAR_040905 p.Ala463Val Polymorphism rs34540355 - NEK1 Q96PY6 VAR_040906 p.Lys745Asn Polymorphism - - NEK1 Q96PY6 VAR_046486 p.Ala598Thr Polymorphism rs33933790 - NEK1 Q96PY6 VAR_046488 p.Gln883Glu Polymorphism rs6828134 - NEK1 Q96PY6 VAR_046489 p.Asp1180Asn Polymorphism rs35503975 - NEK1 Q96PY6 VAR_051651 p.Glu724Gly Polymorphism rs34099167 - NEK1 Q96PY6 VAR_061743 p.Asn717Lys Polymorphism rs34324114 - NEK2 P51955 VAR_019990 p.Asn354Ser Polymorphism rs2230489 - NEK2 P51955 VAR_040907 p.Cys410Tyr Polymorphism rs56102977 - NEK3 P51956 VAR_033906 p.His23Leu Polymorphism rs17482764 - NEK3 P51956 VAR_040908 p.Pro60Arg Polymorphism rs55946204 - NEK3 P51956 VAR_040909 p.Arg122His Polymorphism rs56190615 - NEK3 P51956 VAR_040910 p.Pro170Leu Polymorphism rs56021040 - NEK3 P51956 VAR_040911 p.Arg259Gly Polymorphism rs34077016 - NEK3 P51956 VAR_040912 p.Glu305Asp Polymorphism rs55969405 - NEK3 P51956 VAR_040913 p.Asp461Asn Polymorphism rs34076988 - NEK3 P51956 VAR_040914 p.Glu477Lys Polymorphism rs34488913 - NEK4 P51957 VAR_040915 p.Pro225Ala Polymorphism rs1029871 - NEK4 P51957 VAR_040916 p.Arg239Gly Polymorphism rs35778416 - NEK4 P51957 VAR_040917 p.Pro250Leu Polymorphism rs56408749 - NEK4 P51957 VAR_040918 p.Thr357Ile Polymorphism rs2230537 - NEK4 P51957 VAR_040919 p.Gln456Glu Polymorphism rs56019351 - NEK4 P51957 VAR_040920 p.Phe567Leu Polymorphism rs34986855 - NEK4 P51957 VAR_040921 p.Arg777Lys Unclassified - A colorectal adenocarcinoma sample NEK5 Q6P3R8 VAR_040922 p.Arg290His Polymorphism - - NEK5 Q6P3R8 VAR_040923 p.Cys531Arg Polymorphism - - NEK5 Q6P3R8 VAR_051652 p.Lys255Gln Polymorphism rs34756139 - NEK7 Q8TDX7 VAR_040924 p.Arg35Gly Polymorphism rs55833332 - NEK7 Q8TDX7 VAR_040925 p.Ile275Met Unclassified - An ovarian serous carcinoma sample NEK9 Q8TD19 VAR_027900 p.Arg429His Polymorphism rs10146482 - NEK9 Q8TD19 VAR_040926 p.Pro828Thr Polymorphism rs36014869 - NEK9 Q8TD19 VAR_040927 p.Pro870Ser Unclassified - A lung neuroendocrine carcinoma sample NELFA Q9H3P2 VAR_059459 p.Ser335Ala Polymorphism rs2234569 - NELL1 Q92832 VAR_020167 p.Arg354Trp Polymorphism rs8176786 - NELL1 Q92832 VAR_035834 p.Cys553Phe Unclassified - A colorectal cancer sample NELL1 Q92832 VAR_047828 p.Arg82Gln Polymorphism rs8176785 - NELL1 Q92832 VAR_047829 p.Phe211Val Polymorphism rs35809043 - NELL1 Q92832 VAR_047830 p.Val287Ile Polymorphism rs11820003 - NELL2 Q99435 VAR_048987 p.Val5Ile Polymorphism rs2658973 - NELL2 Q99435 VAR_048988 p.Asn347Asp Polymorphism rs17574839 - NELL2 Q99435 VAR_048989 p.Pro631Leu Polymorphism rs1050710 - NEMF O60524 VAR_034488 p.Ser257Cys Polymorphism rs3100906 - NEO1 Q92859 VAR_027954 p.Pro534Leu Polymorphism rs4467039 - NES P48681 VAR_049814 p.Val815Ile Polymorphism rs951781 - NES P48681 VAR_049815 p.Ser1016Asn Polymorphism rs2365718 - NES P48681 VAR_049816 p.Pro1101Leu Polymorphism rs2886443 - NES P48681 VAR_049817 p.Arg1133Ser Polymorphism rs17393797 - NES P48681 VAR_049818 p.Pro1275Leu Polymorphism rs3748570 - NES P48681 VAR_061301 p.Val130Ala Polymorphism rs4278369 - NET1 Q7Z628 VAR_035972 p.Asp202Asn Unclassified - A breast cancer sample NET1 Q7Z628 VAR_051982 p.Thr417Ile Polymorphism rs34658946 - NETO1 Q8TDF5 VAR_051230 p.Ser481Asn Polymorphism rs922999 - NETO1 Q8TDF5 VAR_051231 p.Ala487Gly Polymorphism rs17086286 - NETO2 Q8NC67 VAR_051232 p.Ser456Thr Polymorphism rs2231983 - NEU1 Q99519 VAR_012207 p.Val54Met Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012208 p.Gly68Val Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012209 p.Leu91Arg Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012210 p.Ser182Gly Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012211 p.Val217Met Disease rs28940583 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012212 p.Gly219Ala Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012213 p.Gly227Arg Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012214 p.Leu231His Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012215 p.Trp240Arg Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012216 p.Gly243Arg Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012217 p.Phe260Tyr Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012218 p.Leu270Pro Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012219 p.Leu270Phe Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012220 p.Arg294Ser Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012221 p.Ala298Val Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012222 p.Gly328Ser Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012223 p.Pro335Gln Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012224 p.Leu363Pro Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_012225 p.Tyr370Cys Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_017460 p.Pro80Leu Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_017461 p.Pro316Ser Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_018076 p.Arg225Pro Disease rs28940584 Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_018077 p.Arg341Gly Disease - Sialidosis (SIALIDOSIS) [MIM:256550] NEU1 Q99519 VAR_049203 p.Gly88Ala Polymorphism rs34712643 - NEU2 Q9Y3R4 VAR_024461 p.Ser11Arg Polymorphism rs2233384 - NEU2 Q9Y3R4 VAR_024462 p.Arg41Gln Polymorphism rs2233385 - NEU2 Q9Y3R4 VAR_049204 p.Ala145Thr Polymorphism rs2233390 - NEU2 Q9Y3R4 VAR_055311 p.His168Asn Polymorphism rs2233391 - NEU2 Q9Y3R4 VAR_055312 p.Arg182Gln Polymorphism rs2233393 - NEU3 Q9UQ49 VAR_055839 p.Arg15Gln Polymorphism rs7115499 - NEURL2 Q9BR09 VAR_052033 p.Glu211Lys Polymorphism rs35342327 - NEURL4 Q96JN8 VAR_049527 p.Gln1019His Polymorphism rs3809813 - NEUROD1 Q13562 VAR_012487 p.Arg111Leu Disease - Maturity-onset diabetes of the young type 6 (MODY6) [MIM:606394] NEUROD1 Q13562 VAR_014820 p.Thr45Ala Polymorphism rs1801262 - NEUROD1 Q13562 VAR_031260 p.Pro197His Polymorphism rs8192556 - NEUROD4 Q9HD90 VAR_012979 p.Lys68Thr Polymorphism - - NEUROG3 Q9Y4Z2 VAR_029003 p.Arg93Leu Disease - Diarrhea type 4 (DIAR4) [MIM:610370] NEUROG3 Q9Y4Z2 VAR_029004 p.Arg107Ser Disease - Diarrhea type 4 (DIAR4) [MIM:610370] NEUROG3 Q9Y4Z2 VAR_055316 p.Phe199Ser Polymorphism rs4536103 - NEXN Q0ZGT2 VAR_049963 p.Gly245Arg Polymorphism rs1166698 - NEXN Q0ZGT2 VAR_059414 p.Arg335Lys Polymorphism rs9660322 - NEXN Q0ZGT2 VAR_063009 p.Pro611Thr Disease - Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122] NEXN Q0ZGT2 VAR_063011 p.Tyr652Cys Disease - Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122] NEXN Q0ZGT2 VAR_065477 p.Gln131Glu Disease - Familial hypertrophic cardiomyopathy type 20 (CMH20) [MIM:613876] NEXN Q0ZGT2 VAR_065478 p.Arg279Cys Disease - Familial hypertrophic cardiomyopathy type 20 (CMH20) [MIM:613876] NF1 P21359 VAR_002653 p.Gly629Arg Disease rs199474738 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002654 p.Leu844Arg Disease rs137854566 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002655 p.Leu898Pro Disease rs199474786 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002657 p.Met1035Arg Disease rs137854553 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002658 p.Lys1440Arg Disease rs199474788 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002659 p.Lys1444Glu Disease rs137854550 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1 P21359 VAR_002659 p.Lys1444Glu Disease rs137854550 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002660 p.Arg1611Trp Disease - Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002662 p.Trp1952Arg Disease rs199474791 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002663 p.Leu1953Pro Disease rs199474792 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002664 p.Leu2164Met Disease rs137854551 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002665 p.Tyr2192Asn Disease - Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_002667 p.Thr2631Ala Disease rs199474793 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_008129 p.Leu1446Pro Disease rs199474733 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010989 p.Ile117Ser Disease rs199474731 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010990 p.Asp338Gly Disease rs199474773 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010991 p.Leu508Pro Disease rs137854558 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010992 p.Leu844Phe Disease rs199474785 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010993 p.Gly1166Asp Disease rs199474787 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010994 p.Arg1204Trp Disease rs199474732 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010995 p.Arg1276Pro Disease rs137854556 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010996 p.Arg1412Ser Disease rs137854554 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010997 p.Lys1440Gln Disease rs199474790 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_010998 p.Ser1489Gly Disease rs199474743 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_017550 p.Ala74Asp Unclassified rs199474726 Mismatch repair deficient cancer cells NF1 P21359 VAR_017551 p.Cys93Tyr Disease rs199474728 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_017552 p.Asp176Glu Polymorphism rs112306990 - NF1 P21359 VAR_017553 p.Leu604Val Disease rs142712751 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_017554 p.His712Arg Unclassified rs199474727 Mismatch repair deficient cancer cells NF1 P21359 VAR_017555 p.Arg1276Gln Disease rs137854556 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_017669 p.Leu2088Pro Disease rs137854561 Familial spinal neurofibromatosis (FSNF) [MIM:162210] NF1 P21359 VAR_021730 p.Ser82Phe Disease rs199474729 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021731 p.Ile157Asn Disease rs199474744 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021732 p.Leu216Pro Disease rs199474756 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021733 p.Leu357Pro Disease rs137854563 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021734 p.Tyr491Cys Disease rs199474757 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021735 p.Leu549Pro Disease rs199474758 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021736 p.Leu578Arg Disease rs199474774 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021737 p.Ile581Thr Disease rs199474759 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021738 p.Lys583Arg Disease rs199474760 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021739 p.Ser665Phe Unclassified rs145891889 - NF1 P21359 VAR_021740 p.Leu695Pro Disease rs199474761 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021741 p.Leu763Pro Disease rs199474762 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021742 p.Arg765His Polymorphism rs199474777 - NF1 P21359 VAR_021743 p.Trp777Ser Disease rs199474745 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021744 p.Thr780Lys Disease rs199474746 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021745 p.His781Pro Disease rs199474763 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021746 p.Trp784Cys Disease rs199474778 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021747 p.Trp784Arg Disease rs199474730 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021748 p.Leu847Pro Disease rs199474747 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021749 p.Gly848Glu Disease rs199474748 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021750 p.Leu920Pro Disease rs199474775 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021751 p.Met968Arg Disease rs199474749 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021752 p.Leu1147Pro Disease rs199474779 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021753 p.Asn1156Ser Disease rs199474764 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021754 p.Phe1193Cys Disease rs199474780 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021755 p.Arg1204Gly Disease rs199474732 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021756 p.Arg1250Pro Disease rs199474765 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021757 p.Lys1444Asn Disease rs199474750 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021758 p.Lys1444Arg Disease rs199474781 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021759 p.Ile1605Val Disease rs199474766 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021760 p.Ala1785Ser Disease rs199474782 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021762 p.Gly2001Arg Disease rs199474751 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021763 p.Asp2012Asn Disease rs199474783 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021764 p.Pro2221Ala Disease rs199474776 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021765 p.Glu2357Lys Disease rs199474784 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_021766 p.Thr2507Ile Disease rs149055633 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_022254 p.Tyr80Cys Polymorphism - - NF1 P21359 VAR_022255 p.Pro678Leu Polymorphism rs17881753 - NF1 P21359 VAR_022256 p.Tyr1422His Polymorphism rs17884349 - NF1 P21359 VAR_022257 p.Val2511Leu Polymorphism rs2230850 - NF1 P21359 VAR_032459 p.His31Arg Disease rs199474725 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032460 p.Leu145Pro Disease rs199474734 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032461 p.Asp186Val Disease - Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032462 p.Leu194Arg Disease rs199474753 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1 P21359 VAR_032463 p.Cys324Arg Disease rs199474735 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032464 p.Glu337Val Disease rs199474736 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032465 p.Tyr489Cys Disease rs137854557 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032466 p.Leu532Pro Disease rs199474737 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032467 p.Ser574Arg Disease - Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032468 p.Leu844Pro Disease rs137854566 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032469 p.Arg873Cys Polymorphism rs199474739 - NF1 P21359 VAR_032470 p.Met1073Val Disease rs199474740 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032471 p.Leu1196Arg Disease rs199474741 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032472 p.Leu1243Pro Disease rs137854564 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032473 p.Arg1276Gly Disease rs199474742 Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032474 p.Lys1430Glu Disease - Neurofibromatosis type 1 (NF1) [MIM:162200] NF1 P21359 VAR_032475 p.Asn1451Thr Disease rs199474754 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1 P21359 VAR_032476 p.Val1453Leu Disease rs199474755 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1 P21359 VAR_035543 p.Leu1187Ile Unclassified - A colorectal cancer sample NF1 P21359 VAR_035544 p.Pro1951Leu Unclassified - A colorectal cancer sample NF1 P21359 VAR_035545 p.Gly2745Arg Unclassified - A breast cancer sample NF1 P21359 VAR_049135 p.Tyr80Ser Polymorphism rs4795581 - NF1 P21359 VAR_065236 p.Leu1411Phe Disease rs199474789 Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF2 P35240 VAR_000809 p.Leu46Arg Unclassified - - NF2 P35240 VAR_000810 p.Phe62Ser Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_000811 p.Lys79Glu Unclassified - - NF2 P35240 VAR_000813 p.Glu106Gly Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_000814 p.Leu117Ile Unclassified - - NF2 P35240 VAR_000817 p.Val219Met Unclassified - - NF2 P35240 VAR_000818 p.Asn220Tyr Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_000819 p.Ile273Phe Unclassified - Breast ductal carcinoma NF2 P35240 VAR_000820 p.Leu339Phe Unclassified - - NF2 P35240 VAR_000821 p.Thr352Met Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_000822 p.Leu360Pro Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_000823 p.Lys364Ile Unclassified - Melanoma NF2 P35240 VAR_000824 p.Arg418Cys Unclassified - - NF2 P35240 VAR_000825 p.Leu535Pro Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_000826 p.Gln538Pro Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_009123 p.Leu234Arg Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_029041 p.Arg351His Polymorphism - - NF2 P35240 VAR_035848 p.Glu463Lys Unclassified - A breast cancer sample NF2 P35240 VAR_043011 p.Met77Val Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_043012 p.Leu141Pro Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_043013 p.Gly197Cys Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_043014 p.Lys413Glu Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_043015 p.Lys533Thr Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_043016 p.Leu539His Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_043017 p.Lys579Met Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NF2 P35240 VAR_048358 p.Gln344His Polymorphism rs2229064 - NF2 P35240 VAR_065227 p.Cys133Arg Disease - Neurofibromatosis 2 (NF2) [MIM:101000] NFAM1 Q8NET5 VAR_049964 p.His137Tyr Polymorphism rs34296033 - NFAM1 Q8NET5 VAR_049965 p.Asn187Lys Polymorphism rs17003048 - NFASC O94856 VAR_017251 p.Thr159Met Polymorphism rs3795564 - NFATC1 O95644 VAR_036529 p.Ala315Thr Unclassified - A colorectal cancer sample NFATC1 O95644 VAR_057145 p.Pro68Thr Polymorphism rs1051978 - NFATC1 O95644 VAR_057146 p.Cys751Gly Polymorphism rs754093 - NFATC2IP Q8NCF5 VAR_031208 p.Arg33Trp Polymorphism rs7201257 - NFATC2 Q13469 VAR_051783 p.His446Arg Polymorphism rs12479626 - NFATC3 Q12968 VAR_051784 p.Ser75Leu Polymorphism rs2230092 - NFATC3 Q12968 VAR_051785 p.Glu94Ala Polymorphism rs3743736 - NFATC3 Q12968 VAR_051786 p.Leu100Ser Polymorphism rs2230093 - NFATC3 Q12968 VAR_051787 p.Pro136Leu Polymorphism rs2230094 - NFATC3 Q12968 VAR_051788 p.Pro382Ser Polymorphism rs2230095 - NFATC4 Q14934 VAR_046985 p.Gly160Ala Polymorphism rs2229309 - NFATC4 Q14934 VAR_046986 p.Ser246Asn Polymorphism rs2228231 - NFATC4 Q14934 VAR_046987 p.Ser800Pro Polymorphism rs7149586 - NFE2L1 Q14494 VAR_048440 p.Asp63His Polymorphism rs2229367 - NFE2L2 Q16236 VAR_020322 p.Ser99Pro Polymorphism rs5031039 - NFE2L2 Q16236 VAR_032110 p.Arg43Gln Polymorphism rs35248500 - NFE2L2 Q16236 VAR_032111 p.Val268Met Polymorphism rs34154613 - NFE2L3 Q9Y4A8 VAR_055562 p.Val441Glu Polymorphism rs2072129 - NFE4 Q86UQ8 VAR_046622 p.Ala45Asp Polymorphism rs6465886 - NFE4 Q86UQ8 VAR_046623 p.Gln116Arg Polymorphism rs2228687 - NFIC P08651 VAR_057656 p.Ala417Ser Polymorphism rs10412720 - NFKB1 P19838 VAR_016268 p.Thr489Ile Polymorphism - - NFKB1 P19838 VAR_016269 p.Met506Val Polymorphism - - NFKB1 P19838 VAR_016270 p.Thr566Ile Polymorphism - - NFKB1 P19838 VAR_016271 p.Arg578Lys Polymorphism - - NFKB1 P19838 VAR_016272 p.His711Gln Polymorphism - - NFKB1 P19838 VAR_016273 p.Ala901Thr Polymorphism - - NFKB2 Q00653 VAR_022223 p.Glu14Lys Polymorphism rs45581936 - NFKB2 Q00653 VAR_022224 p.Gly351Arg Polymorphism rs45580031 - NFKB2 Q00653 VAR_022225 p.Gly452Arg Polymorphism rs45471103 - NFKB2 Q00653 VAR_051781 p.Ala392Gly Polymorphism rs11574848 - NFKBIA P25963 VAR_034871 p.Ser32Ile Disease rs28933100 Ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132] NFKBIB Q15653 VAR_020771 p.Arg339Trp Polymorphism rs17886215 - NFKBID Q8NI38 VAR_042737 p.Val29Ala Polymorphism rs8113704 - NFKBIE O00221 VAR_046631 p.His95Gln Polymorphism rs28362857 - NFKBIE O00221 VAR_046632 p.Val194Ala Polymorphism rs2233434 - NFKBIL1 Q9UBC1 VAR_017798 p.Cys224Arg Polymorphism rs3130062 - NFKBIZ Q9BYH8 VAR_039547 p.Thr307Ser Polymorphism rs3821727 - NFU1 Q9UMS0 VAR_044429 p.Met25Lys Polymorphism rs4453725 - NFX1 Q12986 VAR_043380 p.His731Tyr Polymorphism rs5017299 - NFX1 Q12986 VAR_043381 p.Pro760Ser Polymorphism rs2860036 - NFX1 Q12986 VAR_043382 p.Pro1086Gln Polymorphism rs2274866 - NFXL1 Q6ZNB6 VAR_030869 p.Pro246Leu Polymorphism rs12651301 - NFYC Q13952 VAR_035702 p.Gln165His Unclassified - A breast cancer sample NFYC Q13952 VAR_059460 p.Thr297Ile Polymorphism rs2230746 - NGDN Q8NEJ9 VAR_051898 p.Val15Leu Polymorphism rs10149626 - NGDN Q8NEJ9 VAR_051899 p.Lys308Ile Polymorphism rs17093050 - NGEF Q8N5V2 VAR_027289 p.Arg78Gly Polymorphism rs2271703 - NGEF Q8N5V2 VAR_027290 p.Met111Thr Polymorphism rs4973588 - NGF P01138 VAR_013783 p.Ala35Val Polymorphism rs6330 - NGF P01138 VAR_025553 p.Val72Met Polymorphism rs11466110 - NGF P01138 VAR_025554 p.Arg80Gln Polymorphism rs11466111 - NGF P01138 VAR_030659 p.Arg221Trp Disease rs11466112 Hereditary sensory and autonomic neuropathy type 5 (HSAN5) [MIM:608654] NGFR P08138 VAR_020010 p.Ser205Leu Polymorphism rs2072446 - NGLY1 Q96IV0 VAR_027385 p.Val581Ile Polymorphism rs7621398 - NGLY1 Q96IV0 VAR_027386 p.Gln591Arg Polymorphism rs7635089 - NGRN Q9NPE2 VAR_053905 p.Leu174Phe Polymorphism rs11073922 - NGRN Q9NPE2 VAR_053906 p.Asp267Gly Polymorphism rs16944113 - NHEJ1 Q9H9Q4 VAR_025704 p.Arg57Gly Disease - Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291] NHEJ1 Q9H9Q4 VAR_025705 p.Cys123Arg Disease - Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291] NHEJ1 Q9H9Q4 VAR_038790 p.Ala14Thr Polymorphism rs34689457 - NHEJ1 Q9H9Q4 VAR_038791 p.His89Arg Polymorphism rs1056296 - NHEJ1 Q9H9Q4 VAR_038792 p.Gln256Leu Polymorphism rs35270667 - NHLRC1 Q6VVB1 VAR_019482 p.Cys26Ser Disease rs28940575 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019483 p.Phe33Ser Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019484 p.Pro69Ala Disease rs28940576 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019485 p.Leu87Pro Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019486 p.Pro111Leu Polymorphism rs10949483 - NHLRC1 Q6VVB1 VAR_019487 p.Asp146Asn Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_019488 p.Gln302Pro Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046387 p.Ser22Arg Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046388 p.Glu67Gln Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046389 p.Cys68Tyr Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046390 p.Leu126Pro Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046391 p.Ile153Met Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046392 p.Cys160Arg Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046393 p.Ile198Asn Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046394 p.Trp219Arg Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046395 p.Asp233Ala Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046396 p.Asp245Asn Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046397 p.Arg253Lys Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046398 p.Pro264His Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046399 p.Leu279Pro Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC1 Q6VVB1 VAR_046401 p.Asp308Ala Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] NHLRC2 Q8NBF2 VAR_037749 p.Val314Ile Polymorphism rs7913176 - NHLRC3 Q5JS37 VAR_051233 p.Leu221Arg Polymorphism rs9603498 - NHP2L1 P55769 VAR_034155 p.Thr19Asn Polymorphism rs1802521 - NHSL1 Q5SYE7 VAR_044055 p.Val1085Met Polymorphism rs3734305 - NHSL1 Q5SYE7 VAR_044056 p.Gly1585Ser Polymorphism rs11540147 - NHSL2 Q5HYW2 VAR_044057 p.Thr535Ile Polymorphism rs7061150 - NHS Q6T4R5 VAR_021527 p.Phe1319Leu Polymorphism rs3747295 - NHS Q6T4R5 VAR_021528 p.Ser1535Thr Polymorphism rs2071848 - NHS Q6T4R5 VAR_036225 p.Ala844Thr Unclassified - A breast cancer sample NHS Q6T4R5 VAR_051234 p.Ser1510Thr Polymorphism rs2071848 - NID1 P14543 VAR_021904 p.Gln669Arg Polymorphism rs3738534 - NID1 P14543 VAR_024264 p.Val246Ile Polymorphism rs10733133 - NID1 P14543 VAR_035835 p.Phe1036Ser Unclassified - A colorectal cancer sample NID1 P14543 VAR_055760 p.Arg31Leu Polymorphism rs2071529 - NID1 P14543 VAR_055761 p.Arg302His Polymorphism rs16833183 - NID1 P14543 VAR_055762 p.Arg335His Polymorphism rs34406281 - NID1 P14543 VAR_055763 p.Arg387His Polymorphism rs16833154 - NID1 P14543 VAR_055764 p.Lys970Glu Polymorphism rs16833060 - NID1 P14543 VAR_055765 p.Leu1163Val Polymorphism rs16833032 - NID1 P14543 VAR_055766 p.Thr1226Ile Polymorphism rs6662744 - NID1 P14543 VAR_058123 p.Ser60Arg Polymorphism rs17857302 - NID1 P14543 VAR_058124 p.Gln807His Polymorphism rs3738531 - NID1 P14543 VAR_058125 p.Gln1246Arg Polymorphism rs3213190 - NID2 Q14112 VAR_035836 p.Pro1238Ser Unclassified - A breast cancer sample NID2 Q14112 VAR_055767 p.Asp313Gly Polymorphism rs17124969 - NID2 Q14112 VAR_055768 p.Pro354His Polymorphism rs35657569 - NID2 Q14112 VAR_055769 p.Pro529Ser Polymorphism rs17831525 - NID2 Q14112 VAR_055770 p.Val726Met Polymorphism rs35147930 - NID2 Q14112 VAR_055771 p.Arg775Gln Polymorphism rs10134590 - NID2 Q14112 VAR_055772 p.Arg830Gln Polymorphism rs7144523 - NID2 Q14112 VAR_055773 p.Arg866Gln Polymorphism rs28507587 - NID2 Q14112 VAR_062850 p.Pro22Gln Polymorphism rs3920038 - NID2 Q14112 VAR_062851 p.Gly453Asp Polymorphism rs2101919 - NID2 Q14112 VAR_062852 p.Ser656Pro Polymorphism rs3742536 - NID2 Q14112 VAR_062853 p.Gly760Val Polymorphism rs2273430 - NIF3L1 Q9GZT8 VAR_037084 p.Thr324Ile Polymorphism rs7917 - NIM1 Q8IY84 VAR_040945 p.Arg21Trp Polymorphism - - NIM1 Q8IY84 VAR_040946 p.Glu64Gln Polymorphism - - NIM1 Q8IY84 VAR_040947 p.Leu260Ile Polymorphism - - NIM1 Q8IY84 VAR_040948 p.Met320Ile Polymorphism - - NIM1 Q8IY84 VAR_040949 p.Pro333Ser Unclassified - A lung neuroendocrine carcinoma sample NIM1 Q8IY84 VAR_040950 p.Pro411Thr Unclassified - A lung large cell carcinoma sample NINJ1 Q92982 VAR_025549 p.Ala110Asp Polymorphism rs2275848 - NINL Q9Y2I6 VAR_058509 p.Arg969Gly Polymorphism rs6115193 - NINL Q9Y2I6 VAR_058510 p.Arg1366His Polymorphism rs17857107 - NINL Q9Y2I6 VAR_059700 p.Gly79Val Polymorphism rs6115203 - NINL Q9Y2I6 VAR_059701 p.Ser191Arg Polymorphism rs34585177 - NINL Q9Y2I6 VAR_059702 p.Arg276Trp Polymorphism rs13044759 - NINL Q9Y2I6 VAR_059703 p.Thr296Ala Polymorphism rs379538 - NINL Q9Y2I6 VAR_059704 p.Glu973Lys Polymorphism rs428801 - NINL Q9Y2I6 VAR_061688 p.Asp1077Asn Polymorphism rs35666277 - NINL Q9Y2I6 VAR_061689 p.Arg1276Cys Polymorphism rs41310175 - NIN Q8N4C6 VAR_019453 p.Pro1111Ala Polymorphism rs2236316 - NIN Q8N4C6 VAR_019454 p.Gly1320Glu Polymorphism rs2073347 - NIN Q8N4C6 VAR_019455 p.Ser1837Thr Polymorphism rs12717411 - NIN Q8N4C6 VAR_051235 p.Gln1125Pro Polymorphism rs12882191 - NIN Q8N4C6 VAR_051236 p.Gln1934Glu Polymorphism rs2295847 - NIP7 Q9Y221 VAR_036488 p.Glu171Gln Unclassified - A breast cancer sample NIPA1 Q7RTP0 VAR_023440 p.Thr45Arg Disease - Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363] NIPA1 Q7RTP0 VAR_023441 p.Gly106Arg Disease - Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363] NIPAL1 Q6NVV3 VAR_026843 p.Ile324Val Polymorphism rs13116684 - NIPAL4 Q0D2K0 VAR_031736 p.Gly142Val Disease - Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] NIPAL4 Q0D2K0 VAR_031737 p.Ala176Asp Disease - Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] NIPAL4 Q0D2K0 VAR_031738 p.Ser208Phe Disease - Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] NIPAL4 Q0D2K0 VAR_031739 p.His237Asn Disease - Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] NIPAL4 Q0D2K0 VAR_031740 p.Gly297Arg Disease - Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] NIPAL4 Q0D2K0 VAR_054120 p.Gly230Arg Disease - Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] NIPBL Q6KC79 VAR_019518 p.Ser135Asn Polymorphism rs3822471 - NIPBL Q6KC79 VAR_019519 p.Cys1311Arg Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_019520 p.Leu1348Arg Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_019521 p.Tyr2430Cys Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021596 p.Asn674Ser Polymorphism rs3822471 - NIPBL Q6KC79 VAR_021597 p.Ile1206Val Polymorphism - - NIPBL Q6KC79 VAR_021598 p.Ala1246Gly Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021599 p.Leu1312Pro Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021600 p.Arg1789Leu Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021601 p.Asp1803Val Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021602 p.Arg1856Thr Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021603 p.Arg2298Cys Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021604 p.Arg2298His Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021605 p.Gly2312Arg Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021606 p.Gly2381Ala Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021607 p.Ala2390Thr Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_021608 p.Tyr2440His Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_036164 p.Glu1647Lys Unclassified - A breast cancer sample NIPBL Q6KC79 VAR_038411 p.Ser261Ala Polymorphism rs16903425 - NIPBL Q6KC79 VAR_038412 p.Asn384Ser Polymorphism rs2291703 - NIPBL Q6KC79 VAR_064545 p.Gly2081Ala Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_064546 p.Ser2090Ile Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPBL Q6KC79 VAR_064547 p.Leu2150Pro Disease - Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] NIPSNAP1 Q9BPW8 VAR_011630 p.Glu245Lys Polymorphism rs1058646 - NIPSNAP3A Q9UFN0 VAR_020442 p.Arg100Gln Polymorphism rs2274870 - NIPSNAP3B Q9BS92 VAR_050277 p.Ala94Pro Polymorphism rs10761084 - NIPSNAP3B Q9BS92 VAR_050278 p.Lys154Glu Polymorphism rs3739740 - NIPSNAP3B Q9BS92 VAR_050279 p.Ala159Gly Polymorphism rs3739741 - NISCH Q9Y2I1 VAR_046130 p.Val299Ile Polymorphism rs9856575 - NISCH Q9Y2I1 VAR_046131 p.Ala1056Val Polymorphism rs887515 - NIT2 Q9NQR4 VAR_039180 p.Val231Ala Polymorphism rs17851799 - NKAIN3 Q8N8D7 VAR_029583 p.Val140Ile Polymorphism rs4739003 - NKAIN4 Q8IVV8 VAR_037051 p.Lys91Gln Polymorphism rs1129659 - NKAIN4 Q8IVV8 VAR_037052 p.Ala131Asp Polymorphism rs2236194 - NKAIN4 Q8IVV8 VAR_037053 p.Cys151Gly Polymorphism rs872808 - NKAIN4 Q8IVV8 VAR_037054 p.Glu173Asp Polymorphism rs11556207 - NKAPL Q5M9Q1 VAR_028999 p.Tyr96Cys Polymorphism rs12000 - NKAPL Q5M9Q1 VAR_029000 p.Thr152Asn Polymorphism rs1635 - NKAPL Q5M9Q1 VAR_029001 p.His162Tyr Polymorphism rs9461446 - NKAPL Q5M9Q1 VAR_029002 p.Glu398Gly Polymorphism rs1679709 - NKAP Q8N5F7 VAR_053799 p.Pro115His Polymorphism rs34728541 - NKD2 Q969F2 VAR_034934 p.Thr257Lys Polymorphism rs35679233 - NKPD1 Q17RQ9 VAR_033146 p.Val118Leu Polymorphism rs3810144 - NKTR P30414 VAR_051773 p.Leu861Val Polymorphism rs33969824 - NKTR P30414 VAR_051774 p.Ser935Leu Polymorphism rs35770315 - NKTR P30414 VAR_061765 p.Val271Gly Polymorphism rs35726114 - NKTR P30414 VAR_061766 p.Met1182Thr Polymorphism rs34897686 - NKX2-1 P43699 VAR_015188 p.Trp208Leu Disease rs28936672 Benign hereditary chorea (BHC) [MIM:118700] NKX2-1 P43699 VAR_015189 p.Arg213Ser Disease rs28936671 Benign hereditary chorea (BHC) [MIM:118700] NKX2-1 P43699 VAR_034906 p.Val205Phe Disease - Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978] NKX2-5 P52952 VAR_003752 p.Thr178Met Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_010116 p.Arg25Cys Disease rs28936670 Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_010116 p.Arg25Cys Disease rs28936670 Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250] NKX2-5 P52952 VAR_010116 p.Arg25Cys Disease rs28936670 Hypoplastic left heart syndrome type 2 (HLHS2) [MIM:614435] NKX2-5 P52952 VAR_010116 p.Arg25Cys Disease rs28936670 Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_010117 p.Asn188Lys Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_010118 p.Arg189Gly Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_010119 p.Tyr191Cys Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038212 p.Leu7Pro Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038213 p.Lys15Ile Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038214 p.Asn19Ser Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038215 p.Glu21Gln Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038215 p.Glu21Gln Disease - Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_038216 p.Gln22Pro Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038216 p.Gln22Pro Disease - Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_038217 p.Ser45Pro Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038218 p.Phe51Leu Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038219 p.Ala63Val Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038220 p.Leu69Pro Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038221 p.Pro77Leu Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038222 p.Cys114Arg Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038223 p.Cys114Ser Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038224 p.Lys118Arg Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038225 p.Lys124Arg Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038226 p.Glu126Val Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038227 p.Ala127Glu Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038228 p.Pro133Ser Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038229 p.Ala135Thr Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038230 p.Arg142Cys Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038231 p.Leu144Pro Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038232 p.Lys183Glu Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038233 p.Gln187His Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038234 p.Arg190Cys Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038235 p.Lys192Arg Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038236 p.Lys192Thr Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038237 p.Lys194Arg Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038238 p.Val205Glu Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038239 p.Arg216Cys Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038239 p.Arg216Cys Disease - Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_038240 p.Ala219Val Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038240 p.Ala219Val Disease - Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_038241 p.Asp226Asn Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038242 p.Tyr248His Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038243 p.Pro275Thr Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038244 p.Ser279Phe Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038245 p.Ser279Pro Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038246 p.Ala281Val Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038247 p.Ala286Val Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038248 p.Asn294His Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038249 p.Asp299Gly Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038250 p.Ser305Gly Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038251 p.Gly320Ser Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038252 p.Arg322Gln Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038253 p.Ala323Thr Disease - Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] NKX2-5 P52952 VAR_038253 p.Ala323Thr Disease - Tetralogy of Fallot (TOF) [MIM:187500] NKX2-5 P52952 VAR_047869 p.Ala119Ser Disease - Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250] NKX2-5 P52952 VAR_047870 p.Arg161Pro Disease - Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250] NKX2-5 P52952 VAR_049581 p.Asp16Ala Polymorphism rs17052019 - NKX2-6 A6NCS4 VAR_063278 p.Phe151Leu Disease - Conotruncal heart malformations (CTHM) [MIM:217095] NKX2-8 O15522 VAR_003753 p.Asp16Ala Polymorphism - - NKX3-1 Q99801 VAR_011612 p.Arg52Cys Polymorphism rs2228013 - NKX6-2 Q9C056 VAR_034878 p.Val209Ala Polymorphism rs2804003 - NLE1 Q9NVX2 VAR_035886 p.Gln319Lys Unclassified - A breast cancer sample NLE1 Q9NVX2 VAR_057616 p.Tyr406His Polymorphism rs2306513 - NLE1 Q9NVX2 VAR_057617 p.Ser434Asn Polymorphism rs2306512 - NLE1 Q9NVX2 VAR_060327 p.Pro6Ala Polymorphism rs1471615 - NLE1 Q9NVX2 VAR_060328 p.Arg169Lys Polymorphism rs7215209 - NLGN3 Q9NZ94 VAR_015668 p.Arg451Cys Disease - Autism X-linked type 1 (AUTSX1) [MIM:300425] NLGN3 Q9NZ94 VAR_015668 p.Arg451Cys Disease - X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494] NLGN4X Q8N0W4 VAR_036576 p.Gly214Ser Unclassified - A colorectal cancer sample NLK Q9UBE8 VAR_019549 p.Val177Ala Polymorphism rs11871287 - NLK Q9UBE8 VAR_042273 p.Ala343Thr Unclassified - A glioblastoma multiforme sample NLN Q9BYT8 VAR_024594 p.Pro704Ser Polymorphism rs6860508 - NLN Q9BYT8 VAR_054002 p.Ser323Gly Polymorphism rs34063558 - NLN Q9BYT8 VAR_054003 p.Lys372Arg Polymorphism rs6863012 - NLN Q9BYT8 VAR_054004 p.Ser417Gly Polymorphism rs2289884 - NLN Q9BYT8 VAR_062224 p.Gly79Ser Polymorphism rs34339013 - NLRC3 Q7RTR2 VAR_034606 p.Val567Met Polymorphism rs8057436 - NLRC5 Q86WI3 VAR_034607 p.Ser210Leu Polymorphism rs16965150 - NLRC5 Q86WI3 VAR_034608 p.Pro453Leu Polymorphism rs9938543 - NLRC5 Q86WI3 VAR_034609 p.Cys500Arg Polymorphism rs28438857 - NLRC5 Q86WI3 VAR_034610 p.Ser833Asn Polymorphism rs35534915 - NLRC5 Q86WI3 VAR_034611 p.Gln1105Lys Polymorphism rs289723 - NLRC5 Q86WI3 VAR_034612 p.Val1455Ala Polymorphism rs7190199 - NLRC5 Q86WI3 VAR_034613 p.Gln1466Arg Polymorphism rs7185320 - NLRC5 Q86WI3 VAR_036388 p.Met361Ile Unclassified - A breast cancer sample NLRC5 Q86WI3 VAR_060589 p.Asn907Asp Polymorphism rs1672867 - NLRP11 P59045 VAR_057710 p.Pro438Leu Polymorphism rs12461110 - NLRP11 P59045 VAR_060212 p.Ala188Ser Polymorphism rs299163 - NLRP11 P59045 VAR_062141 p.Asn233Asp Polymorphism rs59244027 - NLRP12 P59046 VAR_053620 p.Gly39Val Polymorphism rs34436714 - NLRP12 P59046 VAR_053621 p.Phe402Leu Polymorphism rs34971363 - NLRP13 Q86W25 VAR_031707 p.Gln247Arg Polymorphism rs303997 - NLRP13 Q86W25 VAR_031708 p.Asn781Ser Polymorphism rs17711239 - NLRP14 Q86W24 VAR_024180 p.Glu808Lys Polymorphism rs10839708 - NLRP14 Q86W24 VAR_031932 p.Asn48Thr Polymorphism rs12801277 - NLRP14 Q86W24 VAR_031933 p.Arg55Glu Unclassified - - NLRP14 Q86W24 VAR_031934 p.Asp86Val Unclassified - - NLRP14 Q86W24 VAR_031935 p.Lys92Arg Polymorphism rs16921697 - NLRP14 Q86W24 VAR_031936 p.Ser98Leu Polymorphism - - NLRP14 Q86W24 VAR_031937 p.Ala375Thr Unclassified - - NLRP14 Q86W24 VAR_031938 p.Thr397Ile Polymorphism - - NLRP14 Q86W24 VAR_031939 p.Val441Met Polymorphism - - NLRP14 Q86W24 VAR_031940 p.Asp522Gln Unclassified - - NLRP14 Q86W24 VAR_031941 p.Ser951Thr Polymorphism - - NLRP14 Q86W24 VAR_031942 p.Leu954Ser Polymorphism - - NLRP14 Q86W24 VAR_031943 p.Leu1010Phe Polymorphism rs17280682 - NLRP14 Q86W24 VAR_031944 p.Met1019Ile Unclassified - - NLRP14 Q86W24 VAR_036387 p.Ser779Cys Unclassified - A breast cancer sample NLRP14 Q86W24 VAR_053622 p.Glu21Lys Polymorphism rs11041150 - NLRP14 Q86W24 VAR_053623 p.Leu511Phe Polymorphism rs11041151 - NLRP1 Q9C000 VAR_020437 p.Arg1366Cys Polymorphism rs2137722 - NLRP1 Q9C000 VAR_021886 p.Arg404Gln Polymorphism rs3744718 - NLRP1 Q9C000 VAR_024238 p.Thr246Ser Polymorphism rs11651595 - NLRP1 Q9C000 VAR_024239 p.Val1059Met Polymorphism rs2301582 - NLRP1 Q9C000 VAR_033239 p.Leu155His Polymorphism rs12150220 - NLRP1 Q9C000 VAR_033240 p.Thr878Met Polymorphism rs11657747 - NLRP1 Q9C000 VAR_033241 p.His1069Tyr Polymorphism rs9907167 - NLRP1 Q9C000 VAR_033242 p.Met1119Val Polymorphism rs35596958 - NLRP1 Q9C000 VAR_033243 p.Met1184Val Polymorphism rs11651270 - NLRP1 Q9C000 VAR_033244 p.Val1241Leu Polymorphism rs11653832 - NLRP2 Q9NX02 VAR_020006 p.Ala1052Glu Polymorphism rs1043673 - NLRP2 Q9NX02 VAR_025011 p.Arg364Lys Polymorphism rs4306647 - NLRP2 Q9NX02 VAR_053616 p.Thr221Met Polymorphism rs17699678 - NLRP2 Q9NX02 VAR_053617 p.Glu302Gln Polymorphism rs3745904 - NLRP2 Q9NX02 VAR_062140 p.Gly884Arg Polymorphism rs59779270 - NLRP3 Q96P20 VAR_013227 p.Val200Met Disease - Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_013227 p.Val200Met Disease - Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_013228 p.Ala354Val Disease - Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_013229 p.Ala441Val Disease - Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_013230 p.Glu629Gly Disease - Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_014104 p.Arg262Trp Disease - Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_014104 p.Arg262Trp Disease - Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014105 p.Asp305Asn Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014105 p.Asp305Asn Disease - Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014106 p.Phe311Ser Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014107 p.Gly571Arg Disease - Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014108 p.Phe575Ser Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014124 p.Leu307Pro Disease - Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_014124 p.Leu307Pro Disease - Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014366 p.Thr350Met Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014366 p.Thr350Met Disease - Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014367 p.His360Arg Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014368 p.Thr438Asn Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_014369 p.Ala441Thr Disease - Muckle-Wells syndrome (MWS) [MIM:191900] NLRP3 Q96P20 VAR_014370 p.Met664Thr Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_023551 p.Tyr861Cys Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_031853 p.Phe525Cys Disease - Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_043679 p.Ile174Thr Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043680 p.Arg262Leu Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043681 p.Arg262Pro Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043682 p.Leu266His Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043683 p.Asp305Gly Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043684 p.Gln308Leu Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043685 p.Leu355Pro Disease rs28937896 Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_043686 p.Glu356Asp Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043687 p.Thr407Pro Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043688 p.Thr438Ile Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043689 p.Arg490Lys Disease - Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] NLRP3 Q96P20 VAR_043690 p.Phe525Leu Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043691 p.Tyr572Cys Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043692 p.Leu634Phe Disease - Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3 Q96P20 VAR_043693 p.Gln705Lys Polymorphism rs35829419 - NLRP4 Q96MN2 VAR_020007 p.Gln925Leu Polymorphism rs302453 - NLRP4 Q96MN2 VAR_024179 p.Ala144Thr Polymorphism rs441827 - NLRP4 Q96MN2 VAR_024827 p.Glu383Asp Polymorphism rs17857373 - NLRP4 Q96MN2 VAR_024828 p.Pro390Gln Polymorphism rs17857374 - NLRP4 Q96MN2 VAR_024829 p.Leu774Met Polymorphism rs17854614 - NLRP4 Q96MN2 VAR_032764 p.Arg708His Polymorphism rs12462372 - NLRP5 P59047 VAR_060095 p.Met459Ile Polymorphism rs471979 - NLRP5 P59047 VAR_060096 p.His584Pro Polymorphism rs34395092 - NLRP5 P59047 VAR_060097 p.Arg761Leu Polymorphism rs17713875 - NLRP5 P59047 VAR_060098 p.Met912Thr Polymorphism rs16986899 - NLRP5 P59047 VAR_060099 p.Ala1097Thr Polymorphism rs3103057 - NLRP5 P59047 VAR_060100 p.Ser1108Cys Polymorphism rs12462795 - NLRP5 P59047 VAR_060101 p.Val1181Ile Polymorphism rs10409555 - NLRP5 P59047 VAR_060102 p.Arg1195Gln Polymorphism rs36118060 - NLRP6 P59044 VAR_058968 p.Met163Leu Polymorphism rs6421985 - NLRP6 P59044 VAR_058969 p.Tyr361Phe Polymorphism rs56159585 - NLRP7 Q8WX94 VAR_026710 p.Val319Ile Polymorphism rs775882 - NLRP7 Q8WX94 VAR_026711 p.Arg693Pro Disease - Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_026712 p.Arg693Trp Disease - Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_026713 p.Asn913Ser Disease - Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_026714 p.Thr971Ala Polymorphism rs7256020 - NLRP7 Q8WX94 VAR_059035 p.Leu398Arg Disease - Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059036 p.Pro651Ser Disease - Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059037 p.Arg693Gln Disease - Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059038 p.Pro716Ala Disease - Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059039 p.Arg721Trp Disease - Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_059040 p.Cys761Tyr Disease - Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] NLRP7 Q8WX94 VAR_060103 p.Gly487Glu Polymorphism rs775881 - NLRP8 Q86W28 VAR_031452 p.Pro25Leu Polymorphism rs306507 - NLRP8 Q86W28 VAR_031453 p.Val116Leu Polymorphism rs306506 - NLRP8 Q86W28 VAR_031454 p.Ala234Thr Polymorphism rs11880691 - NLRP8 Q86W28 VAR_031455 p.Gln268Arg Polymorphism rs7259764 - NLRP8 Q86W28 VAR_031456 p.Gln367Glu Polymorphism rs11880748 - NLRP8 Q86W28 VAR_031457 p.Val782Ala Polymorphism rs306496 - NLRP8 Q86W28 VAR_031458 p.Lys937Arg Polymorphism rs306481 - NLRP8 Q86W28 VAR_036383 p.Pro126Arg Unclassified - A breast cancer sample NLRP8 Q86W28 VAR_036384 p.Glu375Val Unclassified - A breast cancer sample NLRP8 Q86W28 VAR_036385 p.Gln1045Leu Unclassified - A colorectal cancer sample NLRP8 Q86W28 VAR_053618 p.Ala543Val Polymorphism rs41391053 - NLRP8 Q86W28 VAR_053619 p.Arg651Trp Polymorphism rs41481648 - NLRP9 Q7RTR0 VAR_036386 p.Gly425Asp Unclassified - A breast cancer sample NLRX1 Q86UT6 VAR_034614 p.Pro63Ser Polymorphism rs643423 - NLRX1 Q86UT6 VAR_034615 p.Arg125Leu Polymorphism rs3809045 - NLRX1 Q86UT6 VAR_034616 p.Ala793Glu Polymorphism rs4245191 - NLRX1 Q86UT6 VAR_034617 p.Ala843Ser Polymorphism rs35500631 - NMB P08949 VAR_060369 p.Pro73Thr Polymorphism rs1051168 - NMBR P28336 VAR_044513 p.Leu390Met Polymorphism rs7453944 - NMD3 Q96D46 VAR_039546 p.Glu6Lys Polymorphism rs12490341 - NME1 P15531 VAR_004625 p.Ser120Gly Unclassified - - NME8 Q8N427 VAR_022766 p.Cys208Arg Polymorphism rs10250905 - NME8 Q8N427 VAR_032948 p.Arg43Lys Polymorphism rs2722372 - NME8 Q8N427 VAR_036171 p.Ile289Thr Unclassified - A breast cancer sample NME8 Q8N427 VAR_061898 p.Ile493Thr Polymorphism rs56128139 - NMI Q13287 VAR_028190 p.Ser16Leu Polymorphism rs1048135 - NMRAL1 Q9HBL8 VAR_030689 p.Thr23Ile Polymorphism rs11557236 - NMRAL1 Q9HBL8 VAR_030690 p.Pro252Leu Polymorphism rs3747582 - NMRK2 Q9NPI5 VAR_024549 p.Glu178Lys Polymorphism rs16992131 - NMS Q5H8A3 VAR_029495 p.Pro6Ser Polymorphism rs13411940 - NMT1 P30419 VAR_050286 p.Gln61Lys Polymorphism rs3087878 - NMU P48645 VAR_053538 p.Glu79Gly Polymorphism rs35892915 - NMU P48645 VAR_053539 p.Phe148Leu Polymorphism rs12108463 - NMUR2 Q9GZQ4 VAR_023941 p.Ser298Thr Polymorphism rs4958535 - NMUR2 Q9GZQ4 VAR_023942 p.Phe315Leu Polymorphism rs1895245 - NMUR2 Q9GZQ4 VAR_023943 p.Met388Val Polymorphism rs4958531 - NMUR2 Q9GZQ4 VAR_023944 p.Ala395Thr Polymorphism rs1363422 - NMUR2 Q9GZQ4 VAR_032770 p.Pro383Leu Polymorphism rs4958532 - NO66 Q9H6W3 VAR_057819 p.Phe218Ser Polymorphism rs758109 - NO66 Q9H6W3 VAR_060191 p.Gln239His Polymorphism rs34970526 - NO66 Q9H6W3 VAR_062422 p.Lys17Arg Polymorphism rs10144469 - NO66 Q9H6W3 VAR_062423 p.Val364Ala Polymorphism rs3813563 - NOA1 Q8NC60 VAR_025941 p.Ala153Ser Polymorphism rs3733306 - NOA1 Q8NC60 VAR_025942 p.Lys450Arg Polymorphism rs11553077 - NOA1 Q8NC60 VAR_035500 p.Gln579Arg Unclassified - A breast cancer sample NOB1 Q9ULX3 VAR_050287 p.Arg231Gln Polymorphism rs3811348 - NOB1 Q9ULX3 VAR_050288 p.Tyr366Phe Polymorphism rs1075935 - NOBOX O60393 VAR_036636 p.Arg355His Disease - Premature ovarian failure type 5 (POF5) [MIM:611548] NOBOX O60393 VAR_036637 p.Arg360Gln Polymorphism - - NOBOX O60393 VAR_036638 p.Asp452Asn Polymorphism - - NOBOX O60393 VAR_036639 p.Gly482Ser Polymorphism rs2525702 - NOBOX O60393 VAR_036640 p.Phe517Leu Polymorphism rs2699503 - NOBOX O60393 VAR_061266 p.Arg117Trp Polymorphism rs7800847 - NOC2L Q9Y3T9 VAR_028145 p.Ala271Val Polymorphism rs3828049 - NOC2L Q9Y3T9 VAR_028146 p.Ile300Val Polymorphism rs3748597 - NOC2L Q9Y3T9 VAR_050289 p.Ser556Leu Polymorphism rs35471880 - NOC3L Q8WTT2 VAR_023549 p.Pro194Leu Polymorphism rs12572897 - NOC3L Q8WTT2 VAR_023550 p.Glu472Ala Polymorphism rs3758526 - NOC3L Q8WTT2 VAR_048621 p.Pro444Arg Polymorphism rs11187895 - NOC3L Q8WTT2 VAR_048622 p.Arg504Ile Polymorphism rs11187892 - NOC3L Q8WTT2 VAR_048623 p.Thr655Ser Polymorphism rs12259382 - NOC3L Q8WTT2 VAR_048624 p.Ala695Thr Polymorphism rs17517578 - NOD1 Q9Y239 VAR_020371 p.Glu266Lys Polymorphism rs2075820 - NOD1 Q9Y239 VAR_053624 p.Asp372Asn Polymorphism rs5743342 - NOD1 Q9Y239 VAR_053625 p.Arg447His Polymorphism rs2975634 - NOD1 Q9Y239 VAR_053626 p.Arg605Trp Polymorphism rs5743345 - NOD1 Q9Y239 VAR_053627 p.Ala610Thr Polymorphism rs5743346 - NOD2 Q9HC29 VAR_012665 p.Ala140Thr Polymorphism rs34684955 - NOD2 Q9HC29 VAR_012666 p.Trp157Arg Unclassified - - NOD2 Q9HC29 VAR_012667 p.Thr189Met Polymorphism - - NOD2 Q9HC29 VAR_012668 p.Arg235Cys Unclassified - - NOD2 Q9HC29 VAR_012669 p.Leu248Arg Unclassified - - NOD2 Q9HC29 VAR_012670 p.Pro268Ser Polymorphism rs2066842 - NOD2 Q9HC29 VAR_012671 p.Asn289Ser Polymorphism rs5743271 - NOD2 Q9HC29 VAR_012672 p.Asp291Asn Unclassified - - NOD2 Q9HC29 VAR_012673 p.Thr294Ser Unclassified - - NOD2 Q9HC29 VAR_012674 p.Ala301Val Unclassified - - NOD2 Q9HC29 VAR_012675 p.Arg311Trp Unclassified - - NOD2 Q9HC29 VAR_012676 p.Arg334Gln Disease - Blau syndrome (BS) [MIM:186580] NOD2 Q9HC29 VAR_012677 p.Arg334Trp Disease - Blau syndrome (BS) [MIM:186580] NOD2 Q9HC29 VAR_012678 p.Leu348Val Unclassified - - NOD2 Q9HC29 VAR_012679 p.His352Arg Polymorphism rs5743272 - NOD2 Q9HC29 VAR_012680 p.Arg373Cys Unclassified - - NOD2 Q9HC29 VAR_012681 p.Asn414Ser Unclassified - - NOD2 Q9HC29 VAR_012682 p.Ser431Leu Unclassified - - NOD2 Q9HC29 VAR_012683 p.Ala432Val Polymorphism rs2076754 - NOD2 Q9HC29 VAR_012684 p.Glu441Lys Unclassified - - NOD2 Q9HC29 VAR_012685 p.Leu469Phe Disease - Blau syndrome (BS) [MIM:186580] NOD2 Q9HC29 VAR_012686 p.Ala612Thr Disease - Sarcoidosis early-onset (EOS) [MIM:609464] NOD2 Q9HC29 VAR_012687 p.Ala612Val Unclassified - - NOD2 Q9HC29 VAR_012688 p.Arg684Trp Polymorphism rs5743276 - NOD2 Q9HC29 VAR_012689 p.Arg702Trp Polymorphism rs2066844 - NOD2 Q9HC29 VAR_012690 p.Arg703Cys Polymorphism rs5743277 - NOD2 Q9HC29 VAR_012691 p.Arg713Cys Unclassified - - NOD2 Q9HC29 VAR_012692 p.Ala725Gly Polymorphism rs5743278 - NOD2 Q9HC29 VAR_012693 p.Ala755Val Unclassified - - NOD2 Q9HC29 VAR_012694 p.Ala758Val Unclassified - - NOD2 Q9HC29 VAR_012695 p.Glu778Lys Unclassified - - NOD2 Q9HC29 VAR_012696 p.Val793Met Unclassified - - NOD2 Q9HC29 VAR_012697 p.Glu843Lys Unclassified - - NOD2 Q9HC29 VAR_012698 p.Asn853Ser Unclassified - - NOD2 Q9HC29 VAR_012699 p.Met863Val Unclassified - - NOD2 Q9HC29 VAR_012700 p.Ala885Thr Unclassified - - NOD2 Q9HC29 VAR_012701 p.Gly908Arg Polymorphism rs2066845 - NOD2 Q9HC29 VAR_012702 p.Ala918Asp Unclassified - - NOD2 Q9HC29 VAR_012703 p.Gly924Asp Unclassified - - NOD2 Q9HC29 VAR_012704 p.Val955Ile Polymorphism rs5743291 - NOD2 Q9HC29 VAR_023822 p.Asp382Glu Disease - Sarcoidosis early-onset (EOS) [MIM:609464] NOD2 Q9HC29 VAR_023823 p.Glu383Lys Disease - Blau syndrome (BS) [MIM:186580] NOD2 Q9HC29 VAR_023824 p.His496Leu Disease - Sarcoidosis early-onset (EOS) [MIM:609464] NOD2 Q9HC29 VAR_024402 p.Arg790Gln Polymorphism rs5743279 - NOD2 Q9HC29 VAR_036871 p.Leu81Val Polymorphism rs34936594 - NOD2 Q9HC29 VAR_036872 p.Arg471Cys Polymorphism rs1078327 - NOD2 Q9HC29 VAR_065228 p.Thr605Asn Disease - Blau syndrome (BS) [MIM:186580] NODAL Q96S42 VAR_015111 p.Arg183Gln Disease - Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] NODAL Q96S42 VAR_036202 p.Glu279Lys Unclassified - A colorectal cancer sample NODAL Q96S42 VAR_038193 p.His165Arg Polymorphism rs1904589 - NODAL Q96S42 VAR_038194 p.Glu203Lys Disease rs10999334 Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] NODAL Q96S42 VAR_062281 p.Gly260Arg Disease - Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] NODAL Q96S42 VAR_062282 p.Arg275Cys Disease - Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] NODAL Q96S42 VAR_062283 p.Val284Phe Disease - Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] NOG Q13253 VAR_011361 p.Pro35Arg Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] NOG Q13253 VAR_011361 p.Pro35Arg Disease - Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG Q13253 VAR_011362 p.Gly189Cys Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] NOG Q13253 VAR_011363 p.Trp217Gly Disease - Multiple synostoses syndrome type 1 (SYNS1) [MIM:186500] NOG Q13253 VAR_011364 p.Ile220Asn Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] NOG Q13253 VAR_011365 p.Tyr222Cys Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] NOG Q13253 VAR_011365 p.Tyr222Cys Disease - Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG Q13253 VAR_011366 p.Tyr222Asp Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] NOG Q13253 VAR_011367 p.Pro223Leu Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] NOG Q13253 VAR_018324 p.Pro35Ser Disease rs28937580 Brachydactyly type B2 (BDB2) [MIM:611377] NOG Q13253 VAR_018324 p.Pro35Ser Disease rs28937580 Symphalangism proximal syndrome (SYM1) [MIM:185800] NOG Q13253 VAR_018325 p.Cys184Tyr Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] NOG Q13253 VAR_018326 p.Arg204Leu Disease - Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG Q13253 VAR_036997 p.Pro35Ala Disease - Brachydactyly type B2 (BDB2) [MIM:611377] NOG Q13253 VAR_036998 p.Ala36Pro Disease - Brachydactyly type B2 (BDB2) [MIM:611377] NOG Q13253 VAR_036999 p.Glu48Lys Disease - Brachydactyly type B2 (BDB2) [MIM:611377] NOG Q13253 VAR_037000 p.Arg167Gly Disease - Brachydactyly type B2 (BDB2) [MIM:611377] NOG Q13253 VAR_037001 p.Pro187Ser Disease - Brachydactyly type B2 (BDB2) [MIM:611377] NOG Q13253 VAR_037605 p.Trp205Cys Disease - Symphalangism proximal syndrome (SYM1) [MIM:185800] NOG Q13253 VAR_064541 p.Cys232Trp Disease - Multiple synostoses syndrome type 1 (SYNS1) [MIM:186500] NOL10 Q9BSC4 VAR_060041 p.Asp635Asn Polymorphism rs2287059 - NOL11 Q9H8H0 VAR_051237 p.Val115Ala Polymorphism rs2291284 - NOL6 Q9H6R4 VAR_053541 p.Pro52Ser Polymorphism rs10971523 - NOL6 Q9H6R4 VAR_053542 p.Arg723Trp Polymorphism rs35135082 - NOL8 Q76FK4 VAR_052211 p.Val748Leu Polymorphism rs2236344 - NOL8 Q76FK4 VAR_052212 p.Asp841Glu Polymorphism rs15717 - NOL8 Q76FK4 VAR_052213 p.Glu988Asp Polymorphism rs34224798 - NOL8 Q76FK4 VAR_052214 p.Gly1021Ser Polymorphism rs921122 - NOL8 Q76FK4 VAR_061830 p.Gly470Glu Polymorphism rs58545014 - NOL9 Q5SY16 VAR_054777 p.Arg10Trp Polymorphism rs4908923 - NOL9 Q5SY16 VAR_054778 p.Trp50Arg Polymorphism rs6693400 - NOL9 Q5SY16 VAR_054779 p.Ser58Ala Polymorphism rs6693391 - NOL9 Q5SY16 VAR_056955 p.Ile420Val Polymorphism rs17029613 - NOLC1 Q14978 VAR_031677 p.Gly412Val Polymorphism rs11191224 - NOLC1 Q14978 VAR_031678 p.Ser456Pro Polymorphism rs1049455 - NOM1 Q5C9Z4 VAR_032187 p.His122Pro Polymorphism rs6952214 - NOM1 Q5C9Z4 VAR_032188 p.Arg779His Polymorphism rs2302445 - NOM1 Q5C9Z4 VAR_032189 p.Val804Leu Polymorphism rs2302443 - NOM1 Q5C9Z4 VAR_032190 p.Val812Met Polymorphism rs12919 - NOM1 Q5C9Z4 VAR_053051 p.Met723Val Polymorphism rs12919 - NOM1 Q5C9Z4 VAR_061999 p.Arg24Gly Polymorphism rs6969990 - NOMO1 Q15155 VAR_011496 p.Glu1081Lys Polymorphism - - NOMO1 Q15155 VAR_013312 p.Ile404Val Polymorphism rs2561962 - NOMO1 Q15155 VAR_013313 p.Lys458Asn Polymorphism - - NOMO1 Q15155 VAR_013314 p.Asn490Asp Polymorphism rs1062412 - NOMO1 Q15155 VAR_013315 p.Ile1141Phe Polymorphism - - NOMO1 Q15155 VAR_013316 p.Arg1195Gly Polymorphism - - NOMO1 Q15155 VAR_022551 p.Met493Val Polymorphism rs1062413 - NOMO1 Q15155 VAR_056956 p.Met580Val Polymorphism rs17356851 - NOMO1 Q15155 VAR_060370 p.Val583Ala Polymorphism rs17855981 - NOMO2 Q5JPE7 VAR_016104 p.Val580Met Polymorphism rs15984 - NOMO2 Q5JPE7 VAR_034138 p.Asp490Asn Polymorphism rs17435353 - NOMO2 Q5JPE7 VAR_034139 p.Val493Met Polymorphism rs17425492 - NOMO2 Q5JPE7 VAR_034140 p.Asn726Lys Polymorphism rs370986 - NOP10 Q9NPE3 VAR_043725 p.Arg34Trp Disease - Dyskeratosis congenita autosomal recessive type 1 (DKCB1) [MIM:224230] NOP14 P78316 VAR_053540 p.Leu380Ser Polymorphism rs2515960 - NOP14 P78316 VAR_060075 p.Gln716Arg Polymorphism rs1054090 - NOP2 P46087 VAR_030938 p.Leu73Ser Polymorphism rs1128164 - NOP56 O00567 VAR_014471 p.Val576Ala Polymorphism rs5856 - NOP56 O00567 VAR_028793 p.Ile121Val Polymorphism rs2273137 - NOP56 O00567 VAR_028794 p.Met475Thr Polymorphism rs6753 - NOP58 Q9Y2X3 VAR_059461 p.Asn387Thr Polymorphism rs34748654 - NOP58 Q9Y2X3 VAR_059462 p.Ala389Pro Polymorphism rs34458926 - NOP58 Q9Y2X3 VAR_059463 p.Asp400Ala Polymorphism rs35900977 - NOP58 Q9Y2X3 VAR_059464 p.Thr508Pro Polymorphism rs34523815 - NOP9 Q86U38 VAR_024600 p.Ser308Asn Polymorphism rs4280164 - NOP9 Q86U38 VAR_036456 p.Ser497Tyr Unclassified - A breast cancer sample NOP9 Q86U38 VAR_036457 p.Arg626Gln Unclassified - A breast cancer sample NOP9 Q86U38 VAR_051612 p.Pro51Ser Polymorphism rs11848295 - NOS1 P29475 VAR_018948 p.Pro228Ser Polymorphism rs9658279 - NOS1 P29475 VAR_018949 p.Asp394Ala Polymorphism rs9658356 - NOS1 P29475 VAR_018950 p.Asn725Asp Polymorphism rs9658403 - NOS1 P29475 VAR_018951 p.Gly864Asp Polymorphism rs9658445 - NOS1 P29475 VAR_018952 p.Gln1064Arg Polymorphism rs9658482 - NOS2 P35228 VAR_022127 p.Ser608Leu Polymorphism rs2297518 - NOS2 P35228 VAR_024548 p.Arg221Trp Polymorphism rs3730017 - NOS2 P35228 VAR_025020 p.Thr747Ala Polymorphism rs28944173 - NOS2 P35228 VAR_025021 p.Arg1009Cys Polymorphism rs28944201 - NOS2 P35228 VAR_036302 p.Ala679Ser Unclassified - A breast cancer sample NOS3 P29474 VAR_008037 p.Glu298Asp Polymorphism rs1799983 - NOS3 P29474 VAR_031218 p.Arg112Gln Polymorphism rs3918166 - NOS3 P29474 VAR_031219 p.Val827Met Polymorphism rs3918232 - NOS3 P29474 VAR_031220 p.Arg885Met Polymorphism rs3918201 - NOS3 P29474 VAR_031221 p.Gln982Leu Polymorphism rs3918234 - NOS3 P29474 VAR_036303 p.Arg474Cys Unclassified - A colorectal cancer sample NOS3 P29474 VAR_036304 p.Arg602Gln Unclassified - A colorectal cancer sample NOS3 P29474 VAR_061377 p.Arg665His Polymorphism rs7792133 - NOSIP Q9Y314 VAR_031169 p.Thr168Met Polymorphism rs17850728 - NOSTRIN Q8IVI9 VAR_032569 p.Gly473Glu Polymorphism rs479661 - NOTCH1 P46531 VAR_034898 p.Gln300Arg Polymorphism rs11574885 - NOTCH1 P46531 VAR_046618 p.Val1671Ile Polymorphism rs2229968 - NOTCH1 P46531 VAR_048990 p.Arg879Trp Polymorphism rs11574895 - NOTCH2NL Q7Z3S9 VAR_043601 p.Ser67Pro Polymorphism rs10910779 - NOTCH2NL Q7Z3S9 VAR_043602 p.Thr158Ile Polymorphism rs8002 - NOTCH2NL Q7Z3S9 VAR_043603 p.Thr196Ser Polymorphism rs4649852 - NOTCH2NL Q7Z3S9 VAR_043604 p.Glu226Gln Polymorphism rs1053710 - NOTCH2 Q04721 VAR_029361 p.Cys444Tyr Disease - Alagille syndrome type 2 (ALGS2) [MIM:610205] NOTCH2 Q04721 VAR_031463 p.Val1667Phe Polymorphism rs17024517 - NOTCH3 Q9UM47 VAR_012871 p.Cys49Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012872 p.Trp71Cys Disease rs28937321 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012873 p.Arg90Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012874 p.Arg110Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012876 p.Arg133Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012877 p.Arg141Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012878 p.Cys146Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012879 p.Arg153Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012880 p.Arg169Cys Disease rs28933696 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012881 p.His170Arg Polymorphism - - NOTCH3 Q9UM47 VAR_012882 p.Gly171Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012883 p.Arg182Cys Disease rs28933697 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012884 p.Cys185Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012885 p.Cys212Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012886 p.Cys222Gly Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012887 p.Cys224Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012888 p.Tyr258Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012889 p.Pro496Leu Polymorphism rs11670799 - NOTCH3 Q9UM47 VAR_012890 p.Cys542Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012891 p.Arg558Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012892 p.Arg578Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012893 p.Arg728Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012894 p.Arg985Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012895 p.Arg1006Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012896 p.Arg1031Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012897 p.His1133Gln Polymorphism - - NOTCH3 Q9UM47 VAR_012898 p.Val1183Met Polymorphism rs10408676 - NOTCH3 Q9UM47 VAR_012899 p.Arg1231Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012900 p.Cys1261Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_012901 p.Ala2223Val Polymorphism rs1044009 - NOTCH3 Q9UM47 VAR_044230 p.Cys43Gly Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044231 p.Cys49Phe Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044232 p.Arg54Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044233 p.Ser60Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044234 p.Cys65Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044235 p.Cys67Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044236 p.Cys76Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044237 p.Cys76Trp Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044240 p.Cys87Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044241 p.Cys87Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044242 p.Cys93Phe Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044243 p.Cys93Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044244 p.Cys106Trp Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044245 p.Cys108Trp Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044246 p.Cys108Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044247 p.Cys117Phe Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044248 p.Ser118Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044249 p.Cys123Phe Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044250 p.Cys123Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044251 p.Cys128Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044252 p.Cys134Trp Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044253 p.Phe142Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044254 p.Cys144Phe Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044255 p.Cys144Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044256 p.Cys144Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044257 p.Ser145Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044258 p.Gly149Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044259 p.Tyr150Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044261 p.Cys155Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044262 p.Cys162Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044263 p.Cys174Phe Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044264 p.Cys174Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044265 p.Cys174Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044266 p.Ser180Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044267 p.Cys183Phe Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044268 p.Cys183Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044269 p.Cys183Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044270 p.Cys185Gly Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044271 p.Tyr189Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044272 p.Cys194Phe Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044273 p.Cys194Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044274 p.Cys194Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044275 p.Cys194Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044276 p.Cys201Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044277 p.Cys206Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044278 p.Arg207Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044279 p.Arg213Lys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044280 p.Cys222Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044281 p.Cys233Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044282 p.Cys233Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044284 p.Cys240Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044285 p.Cys245Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044286 p.Cys251Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044287 p.Cys260Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044288 p.Ala319Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044289 p.Arg332Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044290 p.Ser335Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044291 p.Tyr337Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044292 p.Cys379Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044293 p.Cys395Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044294 p.Gly420Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044295 p.Arg421Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044296 p.Cys428Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044297 p.Cys428Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044298 p.Cys440Gly Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044299 p.Cys440Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044300 p.Cys446Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044301 p.Arg449Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044302 p.Cys455Arg Disease rs28933698 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044303 p.Cys484Phe Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044304 p.Cys484Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044305 p.Cys495Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044306 p.Cys511Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044307 p.Arg544Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044308 p.Cys549Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044309 p.Arg607Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044310 p.Cys775Ser Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044311 p.Gly953Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044312 p.Phe984Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044313 p.Cys1015Arg Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044314 p.Ala1020Pro Polymorphism rs35769976 - NOTCH3 Q9UM47 VAR_044315 p.Tyr1021Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044316 p.Asp1063Cys Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044317 p.Cys1261Tyr Disease - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] NOTCH3 Q9UM47 VAR_044318 p.Leu1515Pro Unclassified - - NOTCH4 Q99466 VAR_012866 p.Lys117Gln Polymorphism rs915894 - NOTCH4 Q99466 VAR_012867 p.Asp272Gly Polymorphism rs520692 - NOTCH4 Q99466 VAR_012868 p.Glu317Gln Polymorphism - - NOTCH4 Q99466 VAR_012869 p.Thr320Ala Polymorphism rs422951 - NOTCH4 Q99466 VAR_012870 p.Lys851Arg Polymorphism rs2022060 - NOTCH4 Q99466 VAR_033828 p.Pro204Leu Polymorphism rs2071282 - NOTCH4 Q99466 VAR_033829 p.Pro206Leu Polymorphism rs2071282 - NOTCH4 Q99466 VAR_033830 p.Ser244Leu Polymorphism rs8192585 - NOTCH4 Q99466 VAR_033831 p.Gly534Ser Polymorphism rs8192591 - NOTCH4 Q99466 VAR_048991 p.Ser809Ile Polymorphism rs3132961 - NOTCH4 Q99466 VAR_048992 p.Gly942Arg Polymorphism rs17604492 - NOTCH4 Q99466 VAR_048993 p.Arg1346Pro Polymorphism rs8192573 - NOTCH4 Q99466 VAR_059271 p.Gln284His Polymorphism rs520803 - NOTO A8MTQ0 VAR_059353 p.Arg5Thr Polymorphism rs1864492 - NOTO A8MTQ0 VAR_059354 p.Asn164Lys Polymorphism rs13418681 - NOV P48745 VAR_049568 p.Arg42Gln Polymorphism rs2279112 - NOV P48745 VAR_049569 p.Arg233His Polymorphism rs11538929 - NOX1 Q9Y5S8 VAR_049101 p.Arg315His Polymorphism rs2071756 - NOX1 Q9Y5S8 VAR_049102 p.Arg378Lys Polymorphism rs35404864 - NOX1 Q9Y5S8 VAR_061176 p.Asp360Asn Polymorphism rs34688635 - NOX3 Q9HBY0 VAR_049103 p.Thr171Lys Polymorphism rs3749930 - NOX4 Q9NPH5 VAR_047114 p.Met315Ile Polymorphism rs317139 - NOX5 Q96PH1 VAR_055820 p.Arg576His Polymorphism rs2277552 - NOX5 Q96PH1 VAR_055821 p.Arg759Gly Polymorphism rs7168025 - NOXA1 Q86UR1 VAR_037986 p.Pro286Leu Polymorphism rs34155071 - NOXIN Q8IXT1 VAR_037326 p.Ile217Thr Polymorphism rs17853911 - NOXIN Q8IXT1 VAR_037327 p.Arg460Ser Polymorphism rs7947780 - NOXIN Q8IXT1 VAR_037328 p.Asp757Asn Polymorphism rs35711622 - NOXIN Q8IXT1 VAR_037329 p.Pro795Arg Polymorphism rs11826199 - NOXIN Q8IXT1 VAR_037330 p.Val842Ile Polymorphism rs7130899 - NPAP1 Q9NZP6 VAR_026872 p.Val212Ala Polymorphism rs3784246 - NPAP1 Q9NZP6 VAR_026873 p.Gly253Arg Polymorphism rs1563102 - NPAP1 Q9NZP6 VAR_026874 p.Asn282Ser Polymorphism rs7165533 - NPAP1 Q9NZP6 VAR_026875 p.Gln406Glu Polymorphism rs3742950 - NPAP1 Q9NZP6 VAR_035682 p.Arg37Gln Unclassified - A colorectal cancer sample NPAP1 Q9NZP6 VAR_035683 p.Val114Ile Unclassified - A colorectal cancer sample NPAP1 Q9NZP6 VAR_050878 p.Pro34Gln Polymorphism rs35022251 - NPAP1 Q9NZP6 VAR_050879 p.Trp152Arg Polymorphism rs35870568 - NPAP1 Q9NZP6 VAR_050880 p.Pro343Ala Polymorphism rs36025315 - NPAP1 Q9NZP6 VAR_050881 p.Ala757Thr Polymorphism rs36032407 - NPAP1 Q9NZP6 VAR_050882 p.Thr929Pro Polymorphism rs34413216 - NPAS2 Q99743 VAR_029078 p.Thr394Ala Polymorphism rs2305160 - NPAS2 Q99743 VAR_029079 p.Ser471Leu Polymorphism rs11541353 - NPAT Q14207 VAR_038696 p.Ile295Leu Polymorphism rs1131748 - NPAT Q14207 VAR_038697 p.Leu399Met Polymorphism rs1051521 - NPAT Q14207 VAR_038698 p.Val447Met Polymorphism rs35504388 - NPAT Q14207 VAR_038699 p.Ile483Leu Polymorphism rs968207 - NPAT Q14207 VAR_038700 p.Leu540Phe Polymorphism rs4144901 - NPAT Q14207 VAR_038701 p.Val575Ile Polymorphism rs2070661 - NPAT Q14207 VAR_038702 p.Val608Ala Polymorphism rs35095430 - NPAT Q14207 VAR_038703 p.Val621Ile Polymorphism rs1051522 - NPAT Q14207 VAR_038704 p.Gln967Glu Polymorphism rs1131750 - NPAT Q14207 VAR_038705 p.Leu973Val Polymorphism rs1131751 - NPAT Q14207 VAR_038706 p.Val987Ala Polymorphism rs1051524 - NPAT Q14207 VAR_038707 p.Asn999Lys Polymorphism rs34052882 - NPAT Q14207 VAR_038708 p.Gln1191Arg Polymorphism rs1051525 - NPBWR1 P48145 VAR_035765 p.Pro19Gln Unclassified - A breast cancer sample NPBWR1 P48145 VAR_047788 p.Tyr135Phe Polymorphism rs33977775 - NPBWR1 P48145 VAR_047789 p.Arg319Cys Polymorphism rs36068168 - NPBWR2 P48146 VAR_003579 p.Gln206Arg Polymorphism rs4809401 - NPBWR2 P48146 VAR_035766 p.Gly92Arg Unclassified - A colorectal cancer sample NPC1L1 Q9UHC9 VAR_023369 p.Val55Leu Unclassified - - NPC1L1 Q9UHC9 VAR_023370 p.Ile1233Asn Polymorphism rs52815063 - NPC1L1 Q9UHC9 VAR_056659 p.Met510Ile Polymorphism rs1468384 - NPC1L1 Q9UHC9 VAR_056660 p.Glu1308Lys Polymorphism rs217435 - NPC1 O15118 VAR_008815 p.Cys177Gly Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008816 p.His215Arg Polymorphism rs1805081 - NPC1 O15118 VAR_008817 p.Pro237Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008818 p.Gly333Asp Polymorphism - - NPC1 O15118 VAR_008819 p.Leu472Pro Polymorphism - - NPC1 O15118 VAR_008820 p.Ser473Pro Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008821 p.His510Pro Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008822 p.Arg518Gln Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008823 p.Met642Ile Polymorphism rs1788799 - NPC1 O15118 VAR_008824 p.Val757Ala Polymorphism - - NPC1 O15118 VAR_008825 p.Ile858Val Polymorphism rs1805082 - NPC1 O15118 VAR_008826 p.Val889Met Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008827 p.Gln928Pro Disease rs28940897 Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008828 p.Arg934Gln Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008829 p.Ser940Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008830 p.Asp948Asn Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008831 p.Ser954Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008832 p.Cys956Tyr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008833 p.Gly992Trp Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008834 p.Pro1007Ala Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008835 p.Thr1036Met Disease rs28942104 Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008836 p.Ile1061Thr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008837 p.Tyr1088Cys Disease rs28942106 Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008838 p.Asn1156Ser Disease rs28942105 Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008839 p.Phe1167Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008840 p.Arg1186His Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008841 p.Leu1213Phe Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008842 p.Leu1213Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_008843 p.Ile1220Thr Polymorphism - - NPC1 O15118 VAR_008844 p.Arg1266Gln Polymorphism rs1805084 - NPC1 O15118 VAR_015561 p.Cys177Tyr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015562 p.Val378Ala Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015563 p.Val950Met Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015564 p.Arg958Gln Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015565 p.Arg978Cys Disease rs28942108 Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015566 p.Gly992Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_015567 p.Ala1035Val Disease rs28942107 Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043172 p.Cys63Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043173 p.Cys74Tyr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043174 p.Gln92Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043175 p.Cys113Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043176 p.Thr137Met Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043177 p.Ser151Gly Polymorphism rs17855819 - NPC1 O15118 VAR_043178 p.Pro166Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043179 p.Asn222Ser Disease rs55680026 Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043180 p.Val231Gly Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043181 p.Asp242His Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043182 p.Asp242Asn Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043183 p.Cys247Tyr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043184 p.Gly248Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043185 p.Met272Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043186 p.Trp273Ser Unclassified - - NPC1 O15118 VAR_043187 p.Arg372Trp Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043188 p.Leu380Phe Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043189 p.Trp381Cys Polymorphism - - NPC1 O15118 VAR_043190 p.Ala388Pro Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043191 p.Arg389Cys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043192 p.Pro401Thr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043193 p.Arg404Pro Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043194 p.Arg404Gln Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043195 p.Arg404Trp Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043196 p.Pro433Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043197 p.Pro434Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043198 p.Pro434Ser Polymorphism - - NPC1 O15118 VAR_043199 p.Glu451Lys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043200 p.Pro474Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043201 p.Cys479Tyr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043202 p.Tyr509Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043203 p.Thr511Met Polymorphism rs13381670 - NPC1 O15118 VAR_043204 p.His512Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043205 p.Arg518Trp Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043206 p.Ala521Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043207 p.Phe537Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043208 p.Pro543Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043209 p.Thr574Lys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043210 p.Lys576Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043211 p.Ala605Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043212 p.Glu612Asp Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043213 p.Arg615Cys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043214 p.Arg615Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043215 p.Met631Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043216 p.Gly640Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043217 p.Ser652Trp Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043218 p.Gly660Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043219 p.Val664Met Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043220 p.Ser666Asn Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043221 p.Cys670Trp Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043222 p.Gly673Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043223 p.Leu684Phe Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043224 p.Pro691Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043225 p.Leu695Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043226 p.Asp700Asn Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043227 p.Phe703Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043228 p.Leu724Pro Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043229 p.Val727Phe Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043230 p.Ser734Ile Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043231 p.Glu742Lys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043232 p.Ala745Glu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043233 p.Met754Lys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043234 p.Phe763Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043235 p.Ala767Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043236 p.Gln775Pro Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043237 p.Arg789Cys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043238 p.Arg789Gly Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043239 p.Tyr825Cys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043240 p.Ser849Ile Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043241 p.Gln862Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043242 p.Ser865Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043243 p.Tyr871Cys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043244 p.Val873Ala Polymorphism - - NPC1 O15118 VAR_043245 p.Asp874Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043246 p.Pro888Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043247 p.Tyr890Cys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043248 p.Tyr899Asp Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043249 p.Gly910Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043250 p.Asp917Tyr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043251 p.Ala926Thr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043252 p.Ala927Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043253 p.Leu929Pro Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043254 p.Trp942Cys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043255 p.Ile943Met Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043256 p.Asp944Asn Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043257 p.Asp945Asn Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043258 p.Asp948His Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043259 p.Asp948Tyr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043260 p.Arg958Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043261 p.Val959Glu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043263 p.Asn961Ser Disease rs34084984 Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043264 p.Asn968Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043265 p.Val971Gly Polymorphism - - NPC1 O15118 VAR_043266 p.Cys976Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043267 p.Gly986Ser Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043268 p.Gly992Ala Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043269 p.Met996Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043270 p.Ser1004Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043271 p.Gly1012Asp Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043272 p.Gly1015Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043273 p.His1016Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043274 p.Val1023Gly Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043275 p.Gly1034Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043276 p.Thr1036Lys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043277 p.Ala1049Val Polymorphism - - NPC1 O15118 VAR_043278 p.Ala1054Thr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043279 p.Arg1059Gln Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043280 p.Ala1062Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043281 p.Thr1066Asn Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043282 p.Phe1087Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043283 p.Glu1089Lys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043284 p.Ile1094Thr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043285 p.Asp1097Asn Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043286 p.Asn1137Ile Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043287 p.Gly1140Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043288 p.Met1142Thr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043289 p.Asn1150Lys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043290 p.Asn1156Ile Disease rs28942105 Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043291 p.Val1165Met Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043292 p.Cys1168Tyr Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043293 p.Ala1174Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043294 p.Glu1189Gly Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043295 p.Thr1205Lys Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043296 p.Thr1205Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043297 p.Val1212Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043298 p.Ala1216Val Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043299 p.Phe1224Leu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043300 p.Gly1236Glu Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043301 p.Gly1240Arg Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC1 O15118 VAR_043302 p.Ser1249Gly Disease - Niemann-Pick disease type C1 (NPC1) [MIM:257220] NPC2 P61916 VAR_011899 p.Pro86Leu Polymorphism rs4688 - NPC2 P61916 VAR_015848 p.Val39Met Disease - Niemann-Pick disease type C2 (NPDC2) [MIM:607625] NPC2 P61916 VAR_015849 p.Ser67Pro Disease rs11694 Niemann-Pick disease type C2 (NPDC2) [MIM:607625] NPC2 P61916 VAR_043303 p.Val30Met Disease - Niemann-Pick disease type C2 (NPDC2) [MIM:607625] NPC2 P61916 VAR_043304 p.Cys47Phe Disease - Niemann-Pick disease type C2 (NPDC2) [MIM:607625] NPC2 P61916 VAR_043305 p.Cys93Phe Disease - Niemann-Pick disease type C2 (NPDC2) [MIM:607625] NPC2 P61916 VAR_043306 p.Cys99Arg Disease - Niemann-Pick disease type C2 (NPDC2) [MIM:607625] NPC2 P61916 VAR_043307 p.Pro120Ser Disease - Niemann-Pick disease type C2 (NPDC2) [MIM:607625] NPEPL1 Q8NDH3 VAR_059756 p.Lys303Arg Polymorphism rs8116292 - NPEPL1 Q8NDH3 VAR_059757 p.Leu513Val Polymorphism rs6026468 - NPFF O15130 VAR_049183 p.Trp88Arg Polymorphism rs35822762 - NPFFR1 Q9GZQ6 VAR_059327 p.Ile145Leu Polymorphism rs3812694 - NPHP1 O15259 VAR_012160 p.Gly342Arg Disease - Nephronophthisis type 1 (NPHP1) [MIM:256100] NPHP3 Q7Z494 VAR_022815 p.Ser360Thr Disease - Nephronophthisis type 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022816 p.Asn386Ser Disease - Nephronophthisis type 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022817 p.Arg397His Disease - Nephronophthisis type 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022818 p.Leu1141Pro Disease - Nephronophthisis type 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022819 p.Ala1221Val Disease - Nephronophthisis type 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022820 p.Ser1252Arg Disease - Nephronophthisis type 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_022821 p.Ser1314Thr Disease - Nephronophthisis type 3 (NPHP3) [MIM:604387] NPHP3 Q7Z494 VAR_044121 p.Arg973Gln Disease - Renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540] NPHP3 Q7Z494 VAR_044122 p.Arg1305Cys Polymorphism rs35485382 - NPHP4 O75161 VAR_015186 p.Phe991Ser Disease rs28940891 Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_015214 p.Gly754Arg Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_015215 p.Arg848Trp Polymorphism rs17472401 - NPHP4 O75161 VAR_022526 p.Asp3Tyr Disease - Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022527 p.Thr29Met Polymorphism rs12142270 - NPHP4 O75161 VAR_022528 p.Phe91Leu Disease - Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022529 p.Arg342Cys Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022530 p.Arg469Trp Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022531 p.Ala544Gly Polymorphism rs12093500 - NPHP4 O75161 VAR_022532 p.Glu618Lys Polymorphism rs571655 - NPHP4 O75161 VAR_022533 p.Thr627Met Disease - Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022534 p.Ala654Gly Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022535 p.Arg735Trp Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022536 p.Arg740His Polymorphism rs34248917 - NPHP4 O75161 VAR_022537 p.Val765Ile Polymorphism - - NPHP4 O75161 VAR_022538 p.Gln766Arg Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022539 p.Pro776Arg Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022540 p.His782Gln Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022542 p.Thr946Ala Disease - Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022543 p.Arg961His Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022544 p.Ala1098Thr Disease rs41280798 Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022545 p.Arg1192Trp Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022546 p.Thr1225Met Disease - Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] NPHP4 O75161 VAR_022547 p.Arg1284Cys Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_022548 p.Gln1287Glu Disease - Nephronophthisis type 4 (NPHP4) [MIM:606966] NPHP4 O75161 VAR_037622 p.Leu939Gln Polymorphism rs1287637 - NPHP4 O75161 VAR_037623 p.Arg959Gln Polymorphism rs12084067 - NPHP4 O75161 VAR_065557 p.Arg160Leu Unclassified - - NPHS1 O60500 VAR_013029 p.Trp64Ser Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013030 p.Glu117Lys Polymorphism rs3814995 - NPHS1 O60500 VAR_013031 p.Ile171Asn Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013033 p.Ile173Asn Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013035 p.Gly270Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013036 p.Ser350Pro Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013037 p.Ser366Arg Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013038 p.Arg367Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013039 p.Pro368Ser Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013040 p.Leu376Val Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013041 p.Arg408Gln Unclassified rs33950747 - NPHS1 O60500 VAR_013042 p.Glu447Lys Polymorphism rs28939695 - NPHS1 O60500 VAR_013043 p.Cys465Tyr Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013044 p.Cys528Phe Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013045 p.Leu610Gln Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013046 p.Cys623Phe Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013047 p.Ser724Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013048 p.Arg743Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013049 p.Arg802Trp Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013050 p.Arg802Pro Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013051 p.Ala806Asp Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013052 p.Asp819Val Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013053 p.Arg831Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_013054 p.Asn1077Ser Polymorphism rs4806213 - NPHS1 O60500 VAR_013055 p.Arg1140Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_049970 p.Thr233Ala Polymorphism rs35238405 - NPHS1 O60500 VAR_049971 p.Leu392Pro Polymorphism rs34320609 - NPHS1 O60500 VAR_049972 p.Val991Leu Polymorphism rs34736717 - NPHS1 O60500 VAR_064194 p.Leu96Val Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064195 p.Ala107Thr Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064196 p.Ala107Val Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064197 p.Pro167Leu Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064198 p.Arg256Trp Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064199 p.Pro264Arg Unclassified - - NPHS1 O60500 VAR_064200 p.Cys265Arg Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064201 p.Arg299Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064202 p.Pro340His Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064203 p.Gly347Glu Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064204 p.Pro368Leu Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064205 p.Arg379Trp Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064206 p.Arg407Trp Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064207 p.Gly412Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064208 p.Cys417Phe Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064209 p.Arg460Gln Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064210 p.Pro519Ser Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064211 p.Arg558Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064212 p.Ser569Arg Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064213 p.Ser572Asn Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064214 p.Pro575Gln Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064215 p.Arg586Gly Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064216 p.Leu587Arg Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064217 p.His617Arg Unclassified - - NPHS1 O60500 VAR_064218 p.Asn673Lys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064219 p.Trp681Cys Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064220 p.Val709Gly Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064221 p.Glu725Asp Unclassified - - NPHS1 O60500 VAR_064222 p.Ala739Val Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064223 p.Val822Met Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064224 p.Leu832Pro Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064225 p.Val834Phe Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064226 p.Ala851Val Unclassified - - NPHS1 O60500 VAR_064227 p.Ser910Pro Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS1 O60500 VAR_064228 p.Arg976Ser Disease - Nephrotic syndrome type 1 (NPHS1) [MIM:256300] NPHS2 Q9NP85 VAR_010231 p.Pro20Leu Disease - Nephrotic syndrome type 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_010232 p.Gly92Cys Disease - Nephrotic syndrome type 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_010233 p.Arg138Gln Disease - Nephrotic syndrome type 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_010234 p.Asp160Gly Disease - Nephrotic syndrome type 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_010235 p.Val180Met Disease - Nephrotic syndrome type 2 (NPHS2) [MIM:600995] NPHS2 Q9NP85 VAR_010236 p.Arg291Trp Disease - Nephrotic syndrome type 2 (NPHS2) [MIM:600995] NPIP Q9UND3 VAR_034141 p.Arg93Cys Polymorphism rs1136474 - NPM3 O75607 VAR_050410 p.Ser16Asn Polymorphism rs34376117 - NPM3 O75607 VAR_050411 p.Asn80Ile Polymorphism rs2735420 - NPNT Q6UXI9 VAR_033314 p.Gln159His Polymorphism rs35132891 - NPNT Q6UXI9 VAR_033315 p.Ile234Val Polymorphism rs4340795 - NPNT Q6UXI9 VAR_033316 p.Gly473Ser Polymorphism rs35613262 - NPNT Q6UXI9 VAR_033317 p.Met476Thr Polymorphism rs35488797 - NPPA P01160 VAR_014579 p.Val32Met Polymorphism rs5063 - NPPB P16860 VAR_014580 p.Arg25Leu Polymorphism rs5227 - NPPB P16860 VAR_014581 p.Arg47His Polymorphism rs5229 - NPPB P16860 VAR_014582 p.Met93Leu Polymorphism rs5230 - NPPC P23582 VAR_014583 p.Arg82Gln Polymorphism rs5267 - NPR1 P16066 VAR_042214 p.Ala182Val Polymorphism - - NPR1 P16066 VAR_042215 p.Phe270Cys Unclassified - A breast pleomorphic lobular carcinoma sample NPR1 P16066 VAR_042216 p.Val755Met Polymorphism - - NPR1 P16066 VAR_042217 p.Arg939Gln Polymorphism rs35240348 - NPR1 P16066 VAR_042218 p.Glu967Lys Polymorphism rs35479618 - NPR2 P20594 VAR_011968 p.Gln771Glu Polymorphism rs5816 - NPR2 P20594 VAR_022583 p.Pro32Thr Disease rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022584 p.Trp115Gly Disease rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022585 p.Asp176Glu Disease rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022586 p.Thr297Met Disease - Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022587 p.Tyr338Cys Disease - Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022588 p.Ala409Thr Disease - Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022589 p.Gly413Glu Disease - Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022590 p.Tyr708Cys Disease - Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022591 p.Arg776Trp Disease - Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022592 p.Arg957Cys Disease - Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_022593 p.Gly959Ala Disease - Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] NPR2 P20594 VAR_042219 p.Met232Ile Polymorphism rs55747238 - NPR2 P20594 VAR_042220 p.Val882Ile Polymorphism rs55700371 - NPS P0C0P6 VAR_051239 p.Ser14Leu Polymorphism rs990310 - NPS P0C0P6 VAR_051240 p.Val75Leu Polymorphism rs4751440 - NPSR1 Q6W5P4 VAR_023757 p.Asn107Ile Polymorphism rs324981 - NPSR1 Q6W5P4 VAR_023758 p.Ser241Arg Polymorphism rs727162 - NPSR1 Q6W5P4 VAR_023759 p.Gln344Arg Polymorphism rs6972158 - NPSR1 Q6W5P4 VAR_025103 p.Arg122Gln Polymorphism rs35436513 - NPSR1 Q6W5P4 VAR_025104 p.Ser143Gly Polymorphism rs325465 - NPSR1 Q6W5P4 VAR_025105 p.Cys197Phe Polymorphism rs34705969 - NPSR1 Q6W5P4 VAR_025106 p.Thr212Ile Polymorphism rs35537374 - NPSR1 Q6W5P4 VAR_025107 p.Ile315Thr Polymorphism rs10270766 - NPVF Q9HCQ7 VAR_014073 p.Ile32Met Polymorphism rs886354 - NPVF Q9HCQ7 VAR_014074 p.Asp42Gly Polymorphism rs877834 - NPVF Q9HCQ7 VAR_030644 p.Val121Met Polymorphism rs3213641 - NPW Q8N729 VAR_050292 p.Asp149Ala Polymorphism rs2286472 - NPY1R P25929 VAR_014681 p.Lys374Thr Polymorphism rs5578 - NPY P01303 VAR_014598 p.Leu7Pro Polymorphism rs16139 - NPY P01303 VAR_014599 p.Leu22Met Polymorphism rs5571 - NQO1 P15559 VAR_008384 p.Pro187Ser Polymorphism rs1800566 - NQO1 P15559 VAR_016170 p.Arg139Trp Polymorphism rs1131341 - NQO1 P15559 VAR_050220 p.Gln269His Polymorphism rs34447156 - NQO2 P16083 VAR_021399 p.Lys16Arg Polymorphism rs28383623 - NQO2 P16083 VAR_021400 p.Glu29Gly Polymorphism rs17136117 - NQO2 P16083 VAR_021401 p.Leu47Phe Polymorphism rs1143684 - NQO2 P16083 VAR_021402 p.Gly58Asp Polymorphism rs17300141 - NQO2 P16083 VAR_021403 p.Val184Ala Polymorphism rs28383651 - NR0B1 P51843 VAR_004738 p.Arg267Pro Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_004740 p.Val287Gly Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_004741 p.Ala300Val Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_004742 p.Glu377Lys Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_004743 p.Lys382Asn Disease rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_004744 p.Val385Gly Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_004745 p.Arg425Gly Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_004746 p.Asn440Ile Disease rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_018300 p.Tyr380Asp Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_018301 p.Leu381His Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_018302 p.Ile439Ser Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_018303 p.Leu295Pro Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_018304 p.Ala300Pro Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_018305 p.Arg425Thr Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_018306 p.Leu466Arg Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_031079 p.Leu278Pro Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_031080 p.Trp291Cys Disease rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B1 P51843 VAR_031081 p.Leu297Pro Disease - X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] NR0B2 Q15466 VAR_026015 p.Arg57Trp Unclassified - - NR0B2 Q15466 VAR_026016 p.Gly189Glu Unclassified - - NR0B2 Q15466 VAR_026017 p.Ala195Ser Unclassified - - NR0B2 Q15466 VAR_026018 p.Arg213Cys Unclassified - - NR0B2 Q15466 VAR_026019 p.Arg216His Unclassified - - NR0B2 Q15466 VAR_050584 p.Gly171Ala Polymorphism rs6659176 - NR1D2 Q14995 VAR_047377 p.Pro21His Polymorphism rs17854365 - NR1D2 Q14995 VAR_047378 p.Gln282Lys Polymorphism rs17857305 - NR1D2 Q14995 VAR_047379 p.Pro288Arg Polymorphism rs17857306 - NR1D2 Q14995 VAR_047380 p.Leu386Met Polymorphism rs4858097 - NR1H2 P55055 VAR_050579 p.Ser2Phe Polymorphism rs41379547 - NR1H3 Q13133 VAR_050580 p.Gly52Val Polymorphism rs41481445 - NR1I2 O75469 VAR_012228 p.Pro27Ser Polymorphism rs12721613 - NR1I2 O75469 VAR_012229 p.Gly36Arg Polymorphism - - NR1I2 O75469 VAR_012230 p.Arg122Gln Polymorphism - - NR1I2 O75469 VAR_018340 p.Arg98Cys Polymorphism - - NR1I2 O75469 VAR_018341 p.Arg148Gln Polymorphism - - NR1I2 O75469 VAR_018342 p.Arg381Trp Polymorphism - - NR1I2 O75469 VAR_018343 p.Ile403Val Polymorphism - - NR1I2 O75469 VAR_033237 p.Glu18Lys Polymorphism rs59371185 - NR1I2 O75469 VAR_033238 p.Ala370Thr Polymorphism rs35761343 - NR1I2 O75469 VAR_050581 p.Ala12Thr Polymorphism rs1063955 - NR1I3 Q14994 VAR_018344 p.Val133Gly Polymorphism - - NR2E3 Q9Y5X4 VAR_009266 p.Arg76Gln Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_009267 p.Arg76Trp Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010025 p.Arg97His Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010026 p.Arg104Trp Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010027 p.Glu121Lys Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010028 p.Glu140Gly Polymorphism rs1805020 - NR2E3 Q9Y5X4 VAR_010029 p.Met163Thr Polymorphism rs1805021 - NR2E3 Q9Y5X4 VAR_010030 p.Val232Ile Polymorphism rs1805023 - NR2E3 Q9Y5X4 VAR_010031 p.Trp234Ser Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010032 p.Val302Ile Polymorphism rs1805025 - NR2E3 Q9Y5X4 VAR_010033 p.Arg309Gly Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010034 p.Arg311Gln Disease rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010035 p.Arg385Pro Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_010036 p.Met407Lys Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020839 p.Gly88Val Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020840 p.Ala256Glu Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020841 p.Leu263Pro Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020842 p.Leu336Pro Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_020843 p.Leu353Val Disease - Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3 Q9Y5X4 VAR_037026 p.Gly56Arg Disease - Retinitis pigmentosa type 37 (RP37) [MIM:611131] NR2E3 Q9Y5X4 VAR_062768 p.Ser44Leu Unclassified - - NR2E3 Q9Y5X4 VAR_062769 p.Arg104Gln Unclassified - - NR2E3 Q9Y5X4 VAR_062770 p.Gly287Ser Unclassified - - NR2E3 Q9Y5X4 VAR_062771 p.Lys324Arg Unclassified - - NR2E3 Q9Y5X4 VAR_062772 p.Arg334Gly Unclassified - - NR3C1 P04150 VAR_004675 p.Asn363Ser Polymorphism rs6195 - NR3C1 P04150 VAR_004676 p.Asp641Val Disease - Glucocorticoid resistance (GCRES) [MIM:138040] NR3C1 P04150 VAR_004677 p.Val729Ile Disease - Glucocorticoid resistance (GCRES) [MIM:138040] NR3C1 P04150 VAR_004678 p.Leu753Phe Unclassified - Two glucocorticoid resistant leukemia cell lines lacking the normal allele NR3C1 P04150 VAR_013472 p.Arg477His Disease - Glucocorticoid resistance (GCRES) [MIM:138040] NR3C1 P04150 VAR_013473 p.Gly679Ser Disease - Glucocorticoid resistance (GCRES) [MIM:138040] NR3C1 P04150 VAR_014140 p.Arg23Lys Polymorphism rs6190 - NR3C1 P04150 VAR_014622 p.Phe65Val Polymorphism rs6192 - NR3C1 P04150 VAR_015628 p.Phe29Leu Polymorphism - - NR3C1 P04150 VAR_015629 p.Leu112Phe Polymorphism - - NR3C1 P04150 VAR_015630 p.Asp233Asn Polymorphism - - NR3C1 P04150 VAR_015631 p.Cys421Tyr Unclassified - A glucocorticoid resistant leukemia cell line NR3C1 P04150 VAR_015632 p.Ile559Asn Disease - Glucocorticoid resistance (GCRES) [MIM:138040] NR3C1 P04150 VAR_015633 p.Ile747Met Disease - Glucocorticoid resistance (GCRES) [MIM:138040] NR3C1 P04150 VAR_025014 p.Val571Ala Unclassified - - NR3C2 P08235 VAR_014623 p.Ile180Val Polymorphism rs5522 - NR3C2 P08235 VAR_014624 p.Asn444Thr Polymorphism rs5523 - NR3C2 P08235 VAR_014625 p.Arg537Gln Polymorphism rs5526 - NR3C2 P08235 VAR_014626 p.Asn554Ser Polymorphism rs5527 - NR3C2 P08235 VAR_015625 p.Ala241Val Unclassified - - NR3C2 P08235 VAR_015626 p.Ser810Leu Disease rs41511344 Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115] NR3C2 P08235 VAR_015627 p.Leu924Pro Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_029311 p.Phe826Tyr Polymorphism rs13306592 - NR3C2 P08235 VAR_031268 p.Gly633Arg Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031269 p.Cys645Ser Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031270 p.Arg659Ser Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031271 p.Pro759Ser Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031272 p.Leu769Pro Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031273 p.Asn770Lys Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031274 p.Gln776Arg Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031275 p.Ser805Pro Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031276 p.Ser815Arg Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031277 p.Ser818Leu Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031278 p.Glu972Gly Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_031279 p.Leu979Pro Disease - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2 P08235 VAR_036063 p.His7Gln Unclassified - A colorectal cancer sample NR4A1 P22736 VAR_061534 p.Leu26Val Polymorphism rs1882118 - NR5A1 Q13285 VAR_004737 p.Gly35Glu Disease - 46,XY sex reversal type 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_016982 p.Arg92Gln Disease - 46,XY sex reversal type 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_016983 p.Arg255Leu Disease - Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757] NR5A1 Q13285 VAR_039106 p.Cys33Ser Disease - 46,XY sex reversal type 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_039107 p.Arg84His Disease - 46,XY sex reversal type 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_039108 p.Gly146Ala Polymorphism rs1110061 - NR5A1 Q13285 VAR_062967 p.Gly123Ala Disease - Premature ovarian failure type 7 (POF7) [MIM:612964] NR5A1 Q13285 VAR_062967 p.Gly123Ala Disease - Spermatogenic failure type 8 (SPGF8) [MIM:613957] NR5A1 Q13285 VAR_062968 p.Pro129Leu Disease - Premature ovarian failure type 7 (POF7) [MIM:612964] NR5A1 Q13285 VAR_062968 p.Pro129Leu Disease - Spermatogenic failure type 8 (SPGF8) [MIM:613957] NR5A1 Q13285 VAR_062970 p.Asp293Asn Disease - Premature ovarian failure type 7 (POF7) [MIM:612964] NR5A1 Q13285 VAR_063255 p.Val15Met Disease - 46,XY sex reversal type 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_063256 p.Met78Ile Disease - 46,XY sex reversal type 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_063257 p.Gly91Ser Disease - 46,XY sex reversal type 3 (SRXY3) [MIM:612965] NR5A1 Q13285 VAR_063258 p.Leu437Gln Disease - 46,XY sex reversal type 3 (SRXY3) [MIM:612965] NRAP Q86VF7 VAR_027556 p.Val208Ala Polymorphism rs2154028 - NRAP Q86VF7 VAR_027557 p.Tyr249Cys Polymorphism rs2185913 - NRAP Q86VF7 VAR_027558 p.Ala344Thr Polymorphism rs3121478 - NRAP Q86VF7 VAR_027559 p.Gln360Arg Polymorphism rs3127106 - NRAP Q86VF7 VAR_027560 p.Leu1531Pro Polymorphism rs11196389 - NRAP Q86VF7 VAR_034073 p.Ala132Ser Polymorphism rs34700024 - NRAP Q86VF7 VAR_034074 p.Gln186Glu Polymorphism rs35049661 - NRAP Q86VF7 VAR_034075 p.Ala282Thr Polymorphism rs2275799 - NRAP Q86VF7 VAR_034076 p.Ser490Leu Polymorphism rs3189030 - NRAP Q86VF7 VAR_034077 p.Asn519Ile Polymorphism rs2270182 - NRAP Q86VF7 VAR_034078 p.Ala674Val Polymorphism rs2286735 - NRAP Q86VF7 VAR_034079 p.Arg884Cys Polymorphism rs868738 - NRAP Q86VF7 VAR_034080 p.Ala1112Val Polymorphism rs1539587 - NRAP Q86VF7 VAR_050160 p.Asp484Asn Polymorphism rs11196400 - NRAP Q86VF7 VAR_050161 p.Ala647Ser Polymorphism rs2286734 - NRAP Q86VF7 VAR_050162 p.Ile1183Val Polymorphism rs10749138 - NRAP Q86VF7 VAR_050163 p.Arg1566Cys Polymorphism rs1885434 - NRAP Q86VF7 VAR_050164 p.Asp1569Asn Polymorphism rs11575798 - NRAP Q86VF7 VAR_050165 p.Ala1643Ser Polymorphism rs11575797 - NRAP Q86VF7 VAR_061357 p.Met1022Val Polymorphism rs34523503 - NRAS P01111 VAR_006845 p.Gly13Arg Unclassified - Colorectal cancer NRAS P01111 VAR_006846 p.Gln61Lys Unclassified - - NRAS P01111 VAR_006847 p.Gln61Arg Unclassified rs11554290 Lung carcinoma cell NRAS P01111 VAR_021194 p.Gly12Cys Unclassified - Leukemia NRAS P01111 VAR_063084 p.Gly13Asp Disease - Autoimmune lymphoproliferative syndrome type 4 (ALPS4) [MIM:614470] NRAS P01111 VAR_063085 p.Thr50Ile Disease - Noonan syndrome type 6 (NS6) [MIM:613224] NRAS P01111 VAR_063086 p.Gly60Glu Disease - Noonan syndrome type 6 (NS6) [MIM:613224] NRBP1 Q9UHY1 VAR_041359 p.Val365Ile Polymorphism rs56004639 - NRBP1 Q9UHY1 VAR_041360 p.Pro432Leu Unclassified - An ovarian mucinous carcinoma sample NRBP1 Q9UHY1 VAR_041361 p.His460Arg Polymorphism rs34260196 - NRCAM Q92823 VAR_035528 p.His1093Pro Unclassified - A breast cancer sample NRCAM Q92823 VAR_035529 p.Gly1116Val Unclassified - A breast cancer sample NRCAM Q92823 VAR_047550 p.Pro545Ala Polymorphism rs6958498 - NRD1 O43847 VAR_057058 p.Tyr831Ser Polymorphism rs34957144 - NRDE2 Q9H7Z3 VAR_057813 p.Cys32Phe Polymorphism rs7140914 - NRDE2 Q9H7Z3 VAR_060343 p.Asn1118Ser Polymorphism rs3737035 - NRDE2 Q9H7Z3 VAR_062239 p.Glu928Lys Polymorphism rs59039343 - NREP Q16612 VAR_051238 p.Glu43Gly Polymorphism rs11559 - NRG1 Q02297 VAR_009307 p.Arg38Gln Polymorphism rs3924999 - NRG1 Q02297 VAR_009308 p.Met463Lys Polymorphism - - NRG1 Q02297 VAR_053531 p.Met289Thr Polymorphism rs10503929 - NRG3 P56975 VAR_047386 p.Ser472Arg Polymorphism rs2295934 - NRG3 P56975 VAR_047387 p.Lys552Asn Polymorphism rs17101193 - NRIP1 P48552 VAR_023706 p.His221Arg Polymorphism - - NRIP1 P48552 VAR_023707 p.Ile441Val Polymorphism - - NRIP1 P48552 VAR_023708 p.Arg448Gly Polymorphism rs2229742 - NRIP1 P48552 VAR_023709 p.Ser803Leu Polymorphism - - NRIP1 P48552 VAR_023710 p.Val1079Phe Polymorphism - - NRIP1 P48552 VAR_034142 p.Tyr315Phe Polymorphism rs2228507 - NRIP1 P48552 VAR_051241 p.Val37Ile Polymorphism rs9941840 - NRIP1 P48552 VAR_051242 p.Asn567Ser Polymorphism rs9975169 - NRK Q7Z2Y5 VAR_033908 p.Val358Met Polymorphism rs209373 - NRK Q7Z2Y5 VAR_033909 p.Ala993Glu Polymorphism rs16984889 - NRK Q7Z2Y5 VAR_040951 p.Gln355His Polymorphism rs55862725 - NRK Q7Z2Y5 VAR_040952 p.Ser424Cys Unclassified - A breast infiltrating ductal carcinoma sample NRK Q7Z2Y5 VAR_040953 p.Pro426Ala Polymorphism rs55635933 - NRK Q7Z2Y5 VAR_040954 p.Glu579Gly Polymorphism rs56350428 - NRK Q7Z2Y5 VAR_040955 p.Glu679Gly Polymorphism rs35115195 - NRK Q7Z2Y5 VAR_040956 p.Ile880Leu Unclassified - A colorectal adenocarcinoma sample NRK Q7Z2Y5 VAR_040957 p.Asp971Gly Polymorphism rs35334892 - NRK Q7Z2Y5 VAR_040958 p.Pro1106Ser Polymorphism rs35393519 - NRK Q7Z2Y5 VAR_040959 p.Ala1121Pro Polymorphism rs35720774 - NRK Q7Z2Y5 VAR_040960 p.His1276Leu Polymorphism rs35942881 - NRK Q7Z2Y5 VAR_040961 p.Gly1471Ala Polymorphism rs34232354 - NRK Q7Z2Y5 VAR_040962 p.Met1472Leu Polymorphism rs35609510 - NRK Q7Z2Y5 VAR_051653 p.Arg727His Polymorphism rs33936206 - NRL P54845 VAR_009268 p.Ser50Thr Disease - Retinitis pigmentosa type 27 (RP27) [MIM:613750] NRL P54845 VAR_064977 p.Leu160Pro Disease - Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:162080] NRP1 O14786 VAR_046536 p.Val179Ala Polymorphism rs7079053 - NRP1 O14786 VAR_046537 p.Phe561Leu Polymorphism rs2228637 - NRP1 O14786 VAR_056957 p.Val733Ile Polymorphism rs2228638 - NRP2 O60462 VAR_047754 p.Arg123Lys Polymorphism rs849541 - NRP2 O60462 VAR_065167 p.Glu602Lys Polymorphism rs1128169 - NRSN1 Q8IZ57 VAR_029816 p.Ile41Val Polymorphism rs17299946 - NRSN1 Q8IZ57 VAR_053737 p.His104Tyr Polymorphism rs11544636 - NRSN2 Q9GZP1 VAR_053738 p.Leu41Val Polymorphism rs11556643 - NRSN2 Q9GZP1 VAR_053739 p.Ser65Cys Polymorphism rs17762763 - NRSN2 Q9GZP1 VAR_062158 p.Glu160Gln Polymorphism rs35731713 - NRTN Q99748 VAR_009498 p.Ala96Ser Unclassified - - NRXN1 Q9ULB1 VAR_050265 p.Tyr400Asn Polymorphism rs17040901 - NRXN2 Q9P2S2 VAR_050266 p.Leu81Gln Polymorphism rs12273892 - NSA2 O95478 VAR_051862 p.Arg11Cys Polymorphism rs3733793 - NSD1 Q96L73 VAR_015775 p.Val614Leu Polymorphism rs3733875 - NSD1 Q96L73 VAR_015776 p.Ala691Thr Polymorphism rs28932177 - NSD1 Q96L73 VAR_015777 p.Ser726Pro Polymorphism rs28932178 - NSD1 Q96L73 VAR_015778 p.Ala1036Pro Polymorphism rs28932179 - NSD1 Q96L73 VAR_015779 p.Leu1091Ile Polymorphism rs35597015 - NSD1 Q96L73 VAR_015780 p.His1616Leu Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015781 p.Leu1637Pro Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015782 p.Cys1674Trp Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015783 p.Ile1687Asn Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015784 p.Gly1792Val Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015785 p.Cys1925Arg Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015786 p.Gly1955Asp Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015787 p.Arg1984Gln Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015788 p.Tyr1997Cys Disease - Weaver syndrome type 1 (WVS1) [MIM:277590] NSD1 Q96L73 VAR_015789 p.Arg2005Gln Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015790 p.Arg2017Gln Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015791 p.Arg2017Trp Disease - Sotos syndrome type 1 (SOTOS1) [MIM:117550] NSD1 Q96L73 VAR_015792 p.His2143Gln Disease - Weaver syndrome type 1 (WVS1) [MIM:277590] NSD1 Q96L73 VAR_015793 p.Cys2183Ser Disease - Weaver syndrome type 1 (WVS1) [MIM:277590] NSD1 Q96L73 VAR_015794 p.Met2250Ile Polymorphism rs35848863 - NSD1 Q96L73 VAR_015795 p.Met2261Thr Polymorphism rs34165241 - NSDHL Q15738 VAR_010207 p.Ala105Val Disease - Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] NSDHL Q15738 VAR_010208 p.Gly205Ser Disease - Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] NSDHL Q15738 VAR_065289 p.Ala182Pro Disease - Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] NSFL1C Q9UNZ2 VAR_017481 p.Asp290Asn Polymorphism rs9575 - NSF P46459 VAR_029580 p.Thr476Met Polymorphism rs155733 - NSL1 Q96IY1 VAR_016005 p.Met254Val Polymorphism rs15702 - NSL1 Q96IY1 VAR_051243 p.Ser4Phe Polymorphism rs17856201 - NSMAF Q92636 VAR_047023 p.Tyr626Cys Polymorphism rs2228505 - NSMAF Q92636 VAR_047024 p.Arg850Thr Polymorphism rs1131173 - NSMCE1 Q8WV22 VAR_029822 p.Thr38Arg Polymorphism rs7195194 - NSMCE1 Q8WV22 VAR_029823 p.Asn47Ser Polymorphism rs17856580 - NSMCE2 Q96MF7 VAR_036327 p.Leu27Phe Unclassified - A breast cancer sample NSMCE2 Q96MF7 VAR_050537 p.Val66Ala Polymorphism rs11542104 - NSMCE4A Q9NXX6 VAR_057657 p.Ser72Thr Polymorphism rs1065683 - NSMF Q6X4W1 VAR_023003 p.Thr480Ala Disease - Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838] NSMF Q6X4W1 VAR_059699 p.Leu511Val Polymorphism rs34177733 - NSRP1 Q9H0G5 VAR_054104 p.Lys86Thr Polymorphism rs11544945 - NSUN2 Q08J23 VAR_032604 p.Val627Ile Polymorphism rs2303708 - NSUN3 Q9H649 VAR_032605 p.Ala295Val Polymorphism rs17854922 - NSUN4 Q96CB9 VAR_032606 p.Thr51Ala Polymorphism rs3737744 - NSUN4 Q96CB9 VAR_032607 p.Asn128Lys Polymorphism rs17102152 - NSUN4 Q96CB9 VAR_032608 p.Ile325Thr Polymorphism rs13374337 - NSUN4 Q96CB9 VAR_032609 p.Ile365Val Polymorphism rs9865 - NSUN5P2 Q63ZY6 VAR_029476 p.Trp47Ser Polymorphism rs400282 - NSUN5P2 Q63ZY6 VAR_029477 p.Ala90Val Polymorphism rs395127 - NSUN5P2 Q63ZY6 VAR_029478 p.Cys272Arg Polymorphism rs17145838 - NSUN5P2 Q63ZY6 VAR_029479 p.Lys303Arg Polymorphism rs7056 - NSUN5 Q96P11 VAR_051889 p.Pro183Ser Polymorphism rs34913552 - NSUN7 Q8NE18 VAR_032610 p.Ser308Ala Polymorphism rs2437323 - NSUN7 Q8NE18 VAR_059790 p.Thr622Ala Polymorphism rs4861066 - NT5C2 P49902 VAR_024244 p.Thr3Ala Polymorphism rs10883841 - NT5C2 P49902 VAR_030242 p.Gln136Arg Polymorphism rs12262171 - NT5C3B Q969T7 VAR_042582 p.Ala209Val Polymorphism rs1046403 - NT5C3B Q969T7 VAR_042583 p.Ser213Cys Polymorphism rs1046404 - NT5C3 Q9H0P0 VAR_023511 p.Asp137Val Disease - P5N deficiency (P5ND) [MIM:266120] NT5C3 Q9H0P0 VAR_023512 p.Leu181Pro Disease - P5N deficiency (P5ND) [MIM:266120] NT5C3 Q9H0P0 VAR_023513 p.Asn229Ser Disease - P5N deficiency (P5ND) [MIM:266120] NT5C3 Q9H0P0 VAR_023514 p.Gly280Arg Disease - P5N deficiency (P5ND) [MIM:266120] NT5C Q8TCD5 VAR_048102 p.Pro68Leu Polymorphism rs11541956 - NT5DC2 Q9H857 VAR_034143 p.Ser91Arg Polymorphism rs35920544 - NT5DC3 Q86UY8 VAR_040043 p.Ala266Glu Polymorphism rs12184494 - NT5E P21589 VAR_022091 p.Thr376Ala Polymorphism rs2229523 - NT5E P21589 VAR_048103 p.Met379Thr Polymorphism rs2229524 - NT5E P21589 VAR_065185 p.Cys358Tyr Disease - Calcification of joints and arteries (CALJA) [MIM:211800] NTAN1 Q96AB6 VAR_051244 p.His283Asn Polymorphism rs1136001 - NTAN1 Q96AB6 VAR_051245 p.Ser287Pro Polymorphism rs1135999 - NTF3 P20783 VAR_012084 p.Gly76Glu Polymorphism rs1805149 - NTF4 P34130 VAR_063196 p.Cys7Tyr Unclassified - - NTF4 P34130 VAR_063197 p.Glu84Lys Unclassified - - NTF4 P34130 VAR_063198 p.Ala88Val Polymorphism - - NTF4 P34130 VAR_063199 p.Ser89Asn Polymorphism - - NTF4 P34130 VAR_063200 p.Arg90Cys Polymorphism - - NTF4 P34130 VAR_063201 p.Arg90His Unclassified - - NTF4 P34130 VAR_063202 p.Arg114Gly Polymorphism - - NTF4 P34130 VAR_063203 p.Arg133His Polymorphism - - NTF4 P34130 VAR_063204 p.Arg140Cys Polymorphism - - NTF4 P34130 VAR_063205 p.Arg206Gln Unclassified - - NTF4 P34130 VAR_063206 p.Arg206Trp Unclassified - - NTF4 P34130 VAR_063207 p.Thr207Ile Polymorphism - - NTF4 P34130 VAR_063208 p.Thr207Ser Polymorphism - - NTF4 P34130 VAR_063209 p.Arg209Gly Unclassified - - NTHL1 P78549 VAR_016125 p.Arg21Trp Polymorphism rs3087469 - NTHL1 P78549 VAR_016126 p.Arg33Lys Polymorphism rs2302172 - NTHL1 P78549 VAR_016127 p.Ile176Thr Polymorphism rs1805378 - NTHL1 P78549 VAR_016128 p.Asp239Tyr Polymorphism rs3087468 - NTHL1 P78549 VAR_029318 p.Ser234Leu Polymorphism rs3211977 - NTN1 O95631 VAR_014279 p.Arg351His Unclassified - - NTN1 O95631 VAR_014280 p.Lys489Glu Unclassified - - NTN3 O00634 VAR_050086 p.Pro425Ser Polymorphism rs34818219 - NTN4 Q9HB63 VAR_023548 p.Tyr205His Polymorphism rs17288108 - NTNG2 Q96CW9 VAR_047847 p.Thr346Ala Polymorphism rs4962173 - NTPCR Q9BSD7 VAR_053071 p.Gly106Glu Polymorphism rs12123482 - NTRK1 P04629 VAR_004103 p.Gly577Arg Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009623 p.Arg85Ser Polymorphism - - NTRK1 P04629 VAR_009624 p.Leu93Pro Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009625 p.Leu213Pro Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009626 p.Gly522Arg Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009627 p.Met587Val Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009628 p.His604Tyr Polymorphism rs6336 - NTRK1 P04629 VAR_009629 p.Gly613Val Polymorphism rs6339 - NTRK1 P04629 VAR_009630 p.Arg649Trp Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009631 p.Arg654Cys Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009632 p.Asp674Tyr Unclassified - - NTRK1 P04629 VAR_009633 p.Pro695Leu Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009634 p.Gly714Ser Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009635 p.Arg780Pro Disease - Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1 P04629 VAR_009636 p.Arg780Gln Polymorphism rs35669708 - NTRK1 P04629 VAR_041461 p.Gln80Arg Polymorphism rs55891455 - NTRK1 P04629 VAR_041462 p.Ala107Val Unclassified - An ovarian serous carcinoma sample NTRK1 P04629 VAR_041463 p.Thr237Met Polymorphism rs55909005 - NTRK1 P04629 VAR_041464 p.Val238Gly Polymorphism rs56000394 - NTRK1 P04629 VAR_041465 p.Arg260Gly Polymorphism rs35116695 - NTRK1 P04629 VAR_041466 p.Arg444Gln Polymorphism rs56320207 - NTRK1 P04629 VAR_041467 p.Arg452Cys Polymorphism rs34900547 - NTRK1 P04629 VAR_041468 p.Met566Thr Polymorphism rs55892037 - NTRK1 P04629 VAR_041469 p.Val790Ile Polymorphism rs55948542 - NTRK1 P04629 VAR_049714 p.Gly18Glu Polymorphism rs1007211 - NTRK2 Q16620 VAR_011973 p.Asn338Tyr Polymorphism rs1047856 - NTRK2 Q16620 VAR_016320 p.Gly309Arg Polymorphism - - NTRK2 Q16620 VAR_041470 p.Leu138Phe Unclassified - A lung adenocarcinoma sample NTRK2 Q16620 VAR_046518 p.Met697Ile Unclassified - A lung carcinoma sample NTRK2 Q16620 VAR_046519 p.Arg699Gly Unclassified - A lung carcinoma sample NTRK2 Q16620 VAR_046520 p.Arg718Cys Unclassified - A lung carcinoma sample NTRK2 Q16620 VAR_049715 p.Gly545Val Polymorphism rs1075108 - NTRK3 Q16288 VAR_041471 p.Thr149Arg Unclassified - A gastric adenocarcinoma sample NTRK3 Q16288 VAR_041472 p.Arg306Cys Polymorphism rs56386352 - NTRK3 Q16288 VAR_041473 p.Val307Leu Unclassified - A lung adenocarcinoma sample NTRK3 Q16288 VAR_041474 p.Leu336Gln Unclassified - A lung adenocarcinoma sample NTRK3 Q16288 VAR_041475 p.His677Tyr Unclassified - A lung adenocarcinoma sample NTRK3 Q16288 VAR_041476 p.Arg678Gln Polymorphism rs55890138 - NTRK3 Q16288 VAR_046521 p.Ala664Ser Unclassified - A lung carcinoma sample NTRK3 Q16288 VAR_046522 p.Trp736Cys Unclassified - A lung carcinoma sample NTRK3 Q16288 VAR_046523 p.Arg745Pro Unclassified - A lung carcinoma sample NTRK3 Q16288 VAR_046524 p.Tyr766Phe Unclassified - A lung carcinoma sample NTRK3 Q16288 VAR_046770 p.Arg735Phe Unclassified - A lung large cell carcinoma sample NTRK3 Q16288 VAR_046771 p.Lys768Arg Polymorphism rs55770052 - NTRK3 Q16288 VAR_046772 p.Glu781Lys Polymorphism rs56393451 - NTSR1 P30989 VAR_020071 p.Val304Ile Polymorphism rs2273075 - NTSR1 P30989 VAR_049424 p.Gln275His Polymorphism rs35373650 - NTSR1 P30989 VAR_059328 p.Ala72Val Polymorphism rs11698783 - NTSR2 O95665 VAR_049425 p.Ala54Val Polymorphism rs6432225 - NTSR2 O95665 VAR_061225 p.Arg282Lys Polymorphism rs34764121 - NUAK1 O60285 VAR_017246 p.Pro543Arg Polymorphism rs3741883 - NUAK1 O60285 VAR_040963 p.Gly419Asp Polymorphism rs55774704 - NUAK2 Q9H093 VAR_040964 p.Thr309Ser Polymorphism rs55745939 - NUAK2 Q9H093 VAR_040965 p.Arg341Leu Polymorphism rs35208615 - NUAK2 Q9H093 VAR_040966 p.Lys503Arg Unclassified - An ovarian Endometrioid carcinoma sample NUAK2 Q9H093 VAR_040967 p.Ala516Val Polymorphism rs35070935 - NUAK2 Q9H093 VAR_040968 p.Gly541Glu Unclassified - A breast pleomorphic lobular carcinoma sample NUB1 Q9Y5A7 VAR_057369 p.Gln13Arg Polymorphism rs2302131 - NUBP1 P53384 VAR_020359 p.Pro39Ala Polymorphism rs2233531 - NUBP2 Q9Y5Y2 VAR_050099 p.Pro250Ser Polymorphism rs35030308 - NUBP2 Q9Y5Y2 VAR_050100 p.Thr266Met Polymorphism rs34028164 - NUBP2 Q9Y5Y2 VAR_061353 p.Thr200Ala Polymorphism rs57822546 - NUBPL Q8TB37 VAR_027895 p.Asn198Thr Polymorphism rs17855507 - NUBPL Q8TB37 VAR_064570 p.Gly56Arg Unclassified - - NUCB1 Q02818 VAR_012152 p.Arg399Gln Polymorphism - - NUCB1 Q02818 VAR_061087 p.Met338Val Polymorphism rs35456905 - NUCB2 P80303 VAR_024399 p.Gln338Glu Polymorphism rs757081 - NUCKS1 Q9H1E3 VAR_051246 p.Glu119Gly Polymorphism rs3207505 - NUCKS1 Q9H1E3 VAR_051247 p.Leu137Pro Polymorphism rs17355035 - NUDCD1 Q96RS6 VAR_036632 p.Leu252Phe Polymorphism rs2980619 - NUDCD1 Q96RS6 VAR_036633 p.Ile269Val Polymorphism rs2980618 - NUDCD1 Q96RS6 VAR_036634 p.Asn394His Polymorphism rs34660136 - NUDCD1 Q96RS6 VAR_036635 p.Asn426Ser Polymorphism rs11550169 - NUDCD3 Q8IVD9 VAR_031709 p.Arg235Cys Polymorphism rs11550029 - NUDCD3 Q8IVD9 VAR_054036 p.Thr3Pro Polymorphism rs307007 - NUDT11 Q96G61 VAR_022738 p.Ser39Asn Polymorphism - - NUDT12 Q9BQG2 VAR_034157 p.Lys129Glu Polymorphism rs35903418 - NUDT12 Q9BQG2 VAR_034158 p.Ile235Val Polymorphism rs34468716 - NUDT13 Q86X67 VAR_034160 p.Gly81Asp Polymorphism rs34284214 - NUDT13 Q86X67 VAR_050413 p.Met273Val Polymorphism rs17658872 - NUDT19 A8MXV4 VAR_039831 p.Arg43Gln Polymorphism rs10413282 - NUDT1 P36639 VAR_013757 p.Val124Met Polymorphism rs4866 - NUDT22 Q9BRQ3 VAR_029616 p.Gly36Cys Polymorphism rs2286612 - NUDT22 Q9BRQ3 VAR_029617 p.Gln260Arg Polymorphism rs633561 - NUDT22 Q9BRQ3 VAR_029618 p.Leu263Pro Polymorphism rs633557 - NUDT22 Q9BRQ3 VAR_050414 p.Thr129Arg Polymorphism rs34448455 - NUDT5 Q9UKK9 VAR_034159 p.Ile123Thr Polymorphism rs34863826 - NUDT6 P53370 VAR_021909 p.Arg209Gln Polymorphism rs1048201 - NUDT6 P53370 VAR_050412 p.Cys114Arg Polymorphism rs12648093 - NUDT7 P0C024 VAR_050415 p.Arg100His Polymorphism rs308925 - NUDT7 P0C024 VAR_050416 p.Glu181Gly Polymorphism rs16946429 - NUF2 Q9BZD4 VAR_027490 p.Ser229Leu Polymorphism rs11802875 - NUF2 Q9BZD4 VAR_027491 p.Ser239Arg Polymorphism rs16852767 - NUFIP1 Q9UHK0 VAR_026978 p.Ser36Arg Polymorphism rs1140993 - NUGGC Q68CJ6 VAR_034823 p.Arg23Pro Polymorphism rs6998705 - NUGGC Q68CJ6 VAR_034824 p.Ser180Gly Polymorphism rs4732620 - NUGGC Q68CJ6 VAR_034825 p.Gln328Arg Polymorphism rs7817227 - NUGGC Q68CJ6 VAR_034826 p.Ser474Asn Polymorphism rs13279787 - NUGGC Q68CJ6 VAR_056814 p.Arg492Trp Polymorphism rs2305453 - NUMA1 Q14980 VAR_031679 p.Lys242Arg Polymorphism rs34239655 - NUMA1 Q14980 VAR_031680 p.Ala794Gly Polymorphism rs3750913 - NUMA1 Q14980 VAR_031681 p.Glu1153Asp Polymorphism rs34311364 - NUMA1 Q14980 VAR_031682 p.Val1825Met Polymorphism rs7949430 - NUMA1 Q14980 VAR_031683 p.Tyr1836His Polymorphism rs35586429 - NUMA1 Q14980 VAR_051248 p.Ala2049Thr Polymorphism rs5743685 - NUMB P49757 VAR_051249 p.Val387Ile Polymorphism rs17182272 - NUMB P49757 VAR_051250 p.Gly595Asp Polymorphism rs17781919 - NUP133 Q8WUM0 VAR_030829 p.Thr106Pro Polymorphism rs428231 - NUP133 Q8WUM0 VAR_030830 p.Ile294Val Polymorphism rs11805194 - NUP133 Q8WUM0 VAR_030831 p.Gln406Arg Polymorphism rs1065674 - NUP133 Q8WUM0 VAR_035854 p.Gly326Val Unclassified - A breast cancer sample NUP133 Q8WUM0 VAR_035855 p.Gly448Arg Unclassified - A breast cancer sample NUP153 P49790 VAR_046554 p.Asp90Asn Polymorphism rs16879902 - NUP153 P49790 VAR_046555 p.Ile248Val Polymorphism rs2228375 - NUP153 P49790 VAR_046556 p.Asn402Lys Polymorphism rs6906499 - NUP153 P49790 VAR_046557 p.Pro821Leu Polymorphism rs6905654 - NUP153 P49790 VAR_046558 p.Ala827Thr Polymorphism rs2274136 - NUP153 P49790 VAR_046559 p.Thr1388Ala Polymorphism rs45475293 - NUP160 Q12769 VAR_055409 p.Ala40Thr Polymorphism rs2305984 - NUP160 Q12769 VAR_055410 p.Thr351Ala Polymorphism rs3816605 - NUP188 Q5SRE5 VAR_034792 p.Ala1419Val Polymorphism rs17433024 - NUP188 Q5SRE5 VAR_034793 p.Asn1587Lys Polymorphism rs12350674 - NUP205 Q92621 VAR_050567 p.Pro33Ser Polymorphism rs7797639 - NUP205 Q92621 VAR_050568 p.Glu1356Gln Polymorphism rs7810767 - NUP210L Q5VU65 VAR_050574 p.Val1491Ile Polymorphism rs11264875 - NUP210 Q8TEM1 VAR_026474 p.Arg786Leu Polymorphism rs2280084 - NUP210 Q8TEM1 VAR_026475 p.Leu1752Ser Polymorphism rs354479 - NUP210 Q8TEM1 VAR_026476 p.Val1787Met Polymorphism rs354478 - NUP210 Q8TEM1 VAR_028147 p.Ala297Thr Polymorphism rs7628051 - NUP210 Q8TEM1 VAR_028148 p.Ile608Val Polymorphism rs3732671 - NUP210 Q8TEM1 VAR_028149 p.Ala755Val Polymorphism rs6795271 - NUP210 Q8TEM1 VAR_028150 p.Pro821Ala Polymorphism rs2280085 - NUP210 Q8TEM1 VAR_028151 p.Ala944Pro Polymorphism rs433032 - NUP210 Q8TEM1 VAR_028152 p.Met1096Ile Polymorphism rs2271505 - NUP210 Q8TEM1 VAR_028153 p.Asp1430Glu Polymorphism rs13081937 - NUP214 P35658 VAR_035856 p.Gly424Ala Unclassified - A breast cancer sample NUP214 P35658 VAR_035857 p.Pro1378Leu Unclassified - A breast cancer sample NUP214 P35658 VAR_035858 p.Ala1392Val Unclassified - A breast cancer sample NUP214 P35658 VAR_045691 p.Pro574Ser Polymorphism rs103612 - NUP214 P35658 VAR_061533 p.Gly1592Ala Polymorphism rs28594669 - NUP62CL Q9H1M0 VAR_028920 p.Ile177Thr Polymorphism rs1298577 - NUP62CL Q9H1M0 VAR_050569 p.Phe54Leu Polymorphism rs16987290 - NUP62 P37198 VAR_013467 p.Ala233Ser Polymorphism rs2290772 - NUP62 P37198 VAR_028064 p.Gly139Ser Polymorphism rs3745489 - NUP62 P37198 VAR_028065 p.Ser283Thr Polymorphism rs1062798 - NUP62 P37198 VAR_034904 p.Gln391Pro Disease - Infantile striatonigral degeneration (SNDI) [MIM:271930] NUP88 Q99567 VAR_029340 p.Asn289Ser Polymorphism rs1806245 - NUP93 Q8N1F7 VAR_028160 p.Ser509Arg Polymorphism rs17853288 - NUP98 P52948 VAR_035859 p.Gly1669Val Unclassified - A breast cancer sample NUPL1 Q9BVL2 VAR_050570 p.Ala34Thr Polymorphism rs12871898 - NUPL1 Q9BVL2 VAR_050571 p.Ser166Pro Polymorphism rs12871608 - NUPL2 O15504 VAR_050572 p.Asp391Asn Polymorphism rs13243961 - NUPL2 O15504 VAR_050573 p.Lys392Asn Polymorphism rs34902971 - NUS1 Q96E22 VAR_030092 p.Asn175Tyr Polymorphism rs28362518 - NUS1 Q96E22 VAR_030093 p.Asp179Glu Polymorphism rs28362519 - NUS1 Q96E22 VAR_030095 p.Lys216Arg Polymorphism rs1052239 - NUS1 Q96E22 VAR_030096 p.Thr219Lys Polymorphism rs1132147 - NUSAP1 Q9BXS6 VAR_057779 p.Thr33Ala Polymorphism rs7178634 - NUSAP1 Q9BXS6 VAR_057780 p.Thr33Asn Polymorphism rs7178777 - NUT Q86Y26 VAR_037239 p.Pro22Leu Polymorphism rs374230 - NUT Q86Y26 VAR_037240 p.Thr781Met Polymorphism rs16959028 - NUT Q86Y26 VAR_037241 p.Val785Glu Polymorphism rs17236868 - NUT Q86Y26 VAR_037242 p.Thr973Asn Polymorphism rs2279683 - NUT Q86Y26 VAR_037243 p.Pro985Arg Polymorphism rs2279684 - NUT Q86Y26 VAR_037244 p.Arg1113His Polymorphism rs2279685 - NVL O15381 VAR_015890 p.Cys359Gly Polymorphism - - NVL O15381 VAR_048109 p.Val295Ile Polymorphism rs12084919 - NVL O15381 VAR_048110 p.Val404Ile Polymorphism rs34631151 - NWD1 Q149M9 VAR_036769 p.Ser174Gly Polymorphism rs3888834 - NWD1 Q149M9 VAR_036770 p.Leu211Phe Polymorphism rs11668502 - NWD1 Q149M9 VAR_036771 p.Ala218Thr Polymorphism rs706764 - NWD1 Q149M9 VAR_036772 p.Gln900Glu Polymorphism rs773930 - NWD1 Q149M9 VAR_036773 p.Asn926Ile Polymorphism rs2608737 - NWD1 Q149M9 VAR_036774 p.His935Arg Polymorphism rs2608738 - NWD1 Q149M9 VAR_036775 p.Asp1541Val Polymorphism rs11671361 - NXF3 Q9H4D5 VAR_050419 p.Asn186Ile Polymorphism rs2301387 - NXNL2 Q5VZ03 VAR_025755 p.Ser76Cys Polymorphism rs17852066 - NXPE1 Q8N323 VAR_036712 p.Gly353Arg Polymorphism rs10891692 - NXPE1 Q8N323 VAR_036713 p.Ile423Thr Polymorphism rs34993124 - NXPE2 Q96DL1 VAR_034647 p.Val103Ala Polymorphism rs11215158 - NXPE3 Q969Y0 VAR_049024 p.Thr507Ile Polymorphism rs3796277 - NXPE4 Q6UWF7 VAR_049025 p.Tyr398His Polymorphism rs550897 - NXPE4 Q6UWF7 VAR_049026 p.Ala451Val Polymorphism rs10891705 - NYAP2 Q9P242 VAR_039933 p.Thr205Ala Polymorphism rs7422680 - NYAP2 Q9P242 VAR_039934 p.Thr586Pro Polymorphism rs3748993 - NYNRIN Q9P2P1 VAR_037857 p.Thr457Met Polymorphism rs12437434 - NYNRIN Q9P2P1 VAR_037858 p.Ala659Val Polymorphism rs8008203 - NYNRIN Q9P2P1 VAR_037859 p.Ala978Thr Polymorphism rs8017377 - NYNRIN Q9P2P1 VAR_037860 p.Glu997Lys Polymorphism rs3742518 - NYNRIN Q9P2P1 VAR_037861 p.Ile1551Val Polymorphism rs17103672 - NYX Q9GZU5 VAR_013867 p.Cys31Ser Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013868 p.Ala143Pro Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013869 p.Pro151Leu Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013870 p.Pro175Arg Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013871 p.Leu184Pro Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013872 p.Ala187Lys Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013873 p.Leu213Gln Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013874 p.Asn216Ser Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013875 p.Leu232Pro Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013876 p.Asn264Lys Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013877 p.Leu285Pro Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013878 p.Phe298Ser Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013879 p.Leu307Pro Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013880 p.Asn312Ser Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013881 p.Leu347Pro Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_013882 p.Gly370Val Disease - Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] NYX Q9GZU5 VAR_052020 p.Ala406Gly Polymorphism rs34169326 - n.a. O42043 VAR_018642 p.Cys97Tyr Polymorphism - - n.a. O42043 VAR_018644 p.Val272Ile Polymorphism - - n.a. O42043 VAR_018645 p.Val348Ile Polymorphism - - n.a. O42043 VAR_018646 p.Val534Ile Polymorphism - - OAF Q86UD1 VAR_032993 p.His210Arg Polymorphism rs2508489 - OAF Q86UD1 VAR_032994 p.Arg217His Polymorphism rs2508490 - OAS1 P00973 VAR_034872 p.Gly162Ser Polymorphism rs1131454 - OAS1 P00973 VAR_057658 p.Asp354Gly Polymorphism rs35919998 - OAS1 P00973 VAR_057659 p.Arg361Thr Polymorphism rs1051042 - OAS1 P00973 VAR_060471 p.Asn31Asp Polymorphism rs1050994 - OAS1 P00973 VAR_060472 p.Gly127Arg Polymorphism rs4767022 - OAS1 P00973 VAR_060473 p.Ala352Thr Polymorphism rs1131476 - OAS3 Q9Y6K5 VAR_057660 p.Arg65Trp Polymorphism rs12819767 - OAS3 Q9Y6K5 VAR_057661 p.Ser381Arg Polymorphism rs2285933 - OAS3 Q9Y6K5 VAR_057662 p.Arg869His Polymorphism rs16942374 - OAS3 Q9Y6K5 VAR_060076 p.Arg18Lys Polymorphism rs1859330 - OAS3 Q9Y6K5 VAR_060077 p.Arg18Met Polymorphism rs1859330 - OAS3 Q9Y6K5 VAR_060078 p.Arg18Thr Polymorphism rs1859330 - OAS3 Q9Y6K5 VAR_062127 p.Arg378Lys Polymorphism rs45519442 - OASL Q15646 VAR_053544 p.Asn341Ile Polymorphism rs35249920 - OAT P04181 VAR_000565 p.Asn54Lys Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000566 p.Tyr55His Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000567 p.Asn89Lys Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000568 p.Cys93Phe Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000569 p.Arg154Leu Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000570 p.Arg180Thr Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000572 p.Ala226Val Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000573 p.Pro241Leu Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000574 p.Tyr245Cys Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000575 p.Arg250Pro Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000576 p.Thr267Ile Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000577 p.Ala270Pro Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000578 p.Arg271Lys Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000579 p.His319Tyr Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000580 p.Val332Met Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000581 p.Gly353Asp Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000582 p.Gly375Ala Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000583 p.Cys394Arg Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000584 p.Leu402Pro Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000585 p.Pro417Leu Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAT P04181 VAR_000586 p.Leu437Phe Polymorphism rs1800456 - OAT P04181 VAR_015648 p.Gln90Glu Disease - Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] OAZ1 P54368 VAR_022215 p.Arg32Leu Polymorphism rs4667 - OAZ1 P54368 VAR_022216 p.Gly44Asp Polymorphism rs28359762 - OAZ1 P54368 VAR_022217 p.Ser50Phe Polymorphism rs28384673 - OAZ1 P54368 VAR_022218 p.Ser53Phe Polymorphism rs2230749 - OAZ1 P54368 VAR_022219 p.Ala147Val Polymorphism - - OAZ2 O95190 VAR_050420 p.Pro70Leu Polymorphism rs3751534 - OBFC1 Q9H668 VAR_022364 p.Thr151Ala Polymorphism rs2487999 - OBFC1 Q9H668 VAR_022365 p.Ser248Cys Polymorphism rs10786775 - OBP2A Q9NY56 VAR_034354 p.Asn61Lys Polymorphism rs3180357 - OBP2A Q9NY56 VAR_050176 p.Met159Thr Polymorphism rs2853652 - OBP2A Q9NY56 VAR_061359 p.Gly130Ala Polymorphism rs55695858 - OBP2A Q9NY56 VAR_061360 p.Pro133Ser Polymorphism rs3178137 - OBP2B Q9NPH6 VAR_050177 p.Val167Ile Polymorphism rs11244035 - OBSCN Q5VST9 VAR_026409 p.Ala51Thr Polymorphism rs1771487 - OBSCN Q5VST9 VAR_026410 p.Arg4534His Polymorphism rs4653942 - OBSCN Q5VST9 VAR_034618 p.Gln502Arg Polymorphism rs1771487 - OBSCN Q5VST9 VAR_034619 p.Val1508Asp Polymorphism rs7532342 - OBSCN Q5VST9 VAR_034620 p.Ala3300Thr Polymorphism rs437129 - OBSCN Q5VST9 VAR_034621 p.His4381Arg Polymorphism rs1150912 - OBSCN Q5VST9 VAR_034622 p.Cys4450Arg Polymorphism rs1188732 - OBSCN Q5VST9 VAR_035530 p.Ala1136Val Unclassified - A colorectal cancer sample OBSCN Q5VST9 VAR_035531 p.Arg1792His Unclassified - A colorectal cancer sample OBSCN Q5VST9 VAR_035532 p.Val1930Met Unclassified - A colorectal cancer sample OBSCN Q5VST9 VAR_035533 p.Glu2090Lys Unclassified - A colorectal cancer sample OBSCN Q5VST9 VAR_035534 p.Ser2314Phe Unclassified - A breast cancer sample OBSCN Q5VST9 VAR_035535 p.Arg3983Gln Unclassified - A colorectal cancer sample OBSCN Q5VST9 VAR_035536 p.Arg4558His Unclassified - A colorectal cancer sample OBSCN Q5VST9 VAR_035537 p.Arg4810Gln Unclassified - A breast cancer sample OBSCN Q5VST9 VAR_035538 p.Ala5071Thr Unclassified - A breast cancer sample OBSCN Q5VST9 VAR_042276 p.Gly804Ser Polymorphism rs55950009 - OBSCN Q5VST9 VAR_042277 p.Lys1027Arg Polymorphism rs55760713 - OBSCN Q5VST9 VAR_042278 p.Ala1086Ser Polymorphism - - OBSCN Q5VST9 VAR_042279 p.Ala1090Thr Polymorphism - - OBSCN Q5VST9 VAR_042280 p.Ser1091Thr Polymorphism - - OBSCN Q5VST9 VAR_042281 p.Ala1101Pro Polymorphism - - OBSCN Q5VST9 VAR_042282 p.Gly1121Arg Polymorphism - - OBSCN Q5VST9 VAR_042283 p.Leu1133Val Polymorphism - - OBSCN Q5VST9 VAR_042284 p.His1156Gln Polymorphism - - OBSCN Q5VST9 VAR_042285 p.Gln1248His Polymorphism - - OBSCN Q5VST9 VAR_042286 p.Ala1532Val Polymorphism rs453140 - OBSCN Q5VST9 VAR_042287 p.Thr1566Met Polymorphism rs56217040 - OBSCN Q5VST9 VAR_042288 p.Ala1601Thr Polymorphism rs55706639 - OBSCN Q5VST9 VAR_042289 p.Ala3389Val Polymorphism - - OBSCN Q5VST9 VAR_042290 p.Asp3426Glu Polymorphism - - OBSCN Q5VST9 VAR_042291 p.Arg3834Gly Polymorphism - - OBSCN Q5VST9 VAR_042292 p.Ala4823Ser Polymorphism - - OBSCN Q5VST9 VAR_042293 p.Arg5598Gln Polymorphism - - OBSCN Q5VST9 VAR_042294 p.Glu6473Gln Polymorphism - - OBSCN Q5VST9 VAR_047743 p.Ala908Thr Polymorphism rs1757153 - OBSCN Q5VST9 VAR_047744 p.Asp2106Glu Polymorphism rs1188721 - OBSCN Q5VST9 VAR_047745 p.Phe2116Leu Polymorphism rs1188722 - OBSCN Q5VST9 VAR_047746 p.Arg2529Gln Polymorphism rs3795783 - OBSCN Q5VST9 VAR_047747 p.Val2720Met Polymorphism rs1188697 - OBSCN Q5VST9 VAR_047748 p.Arg2812Trp Polymorphism rs3795785 - OBSCN Q5VST9 VAR_047749 p.Glu3372Asp Polymorphism rs3795789 - OBSCN Q5VST9 VAR_047750 p.Ser3373Cys Polymorphism rs3795790 - OBSCN Q5VST9 VAR_047751 p.Gly4039Arg Polymorphism rs435776 - OBSCN Q5VST9 VAR_056102 p.Ser4642Cys Polymorphism rs1188729 - OBSCN Q5VST9 VAR_056103 p.Arg4662Cys Polymorphism rs3795800 - OBSCN Q5VST9 VAR_056104 p.Gly4666Ser Polymorphism rs3795801 - OBSCN Q5VST9 VAR_056105 p.Asp4962Gly Polymorphism rs373610 - OBSCN Q5VST9 VAR_056106 p.Leu5269Val Polymorphism rs369909 - OBSCN Q5VST9 VAR_056107 p.Arg5575His Polymorphism rs3795809 - OBSCN Q5VST9 VAR_056108 p.Gln5891Glu Polymorphism rs1188710 - OBSCN Q5VST9 VAR_056109 p.Ala7172Val Polymorphism rs500049 - OBSCN Q5VST9 VAR_059429 p.Arg4516Trp Polymorphism rs11810627 - OCA2 Q04671 VAR_006117 p.Gly27Arg Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006118 p.Ser86Arg Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006119 p.Cys112Phe Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006121 p.Ala257Asp Polymorphism rs1050968 - OCA2 Q04671 VAR_006123 p.Arg305Trp Polymorphism rs1800401 - OCA2 Q04671 VAR_006124 p.Ala368Val Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006125 p.Phe385Ile Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006126 p.Met395Leu Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006127 p.Thr404Met Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006128 p.Arg419Gln Polymorphism rs1800407 - OCA2 Q04671 VAR_006129 p.Arg419Trp Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006131 p.Leu440His Polymorphism - - OCA2 Q04671 VAR_006132 p.Val443Ile Disease rs28934272 Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006133 p.Met446Val Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006134 p.Ile473Ser Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006135 p.Asn489Asp Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006136 p.His549Gln Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006137 p.Thr592Ile Disease rs1800413 Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006138 p.Lys614Asn Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006139 p.His615Arg Polymorphism rs1800414 - OCA2 Q04671 VAR_006140 p.Trp652Arg Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006141 p.Trp679Arg Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006142 p.Ile722Thr Polymorphism rs1800417 - OCA2 Q04671 VAR_006143 p.Ala724Pro Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006144 p.Ser736Leu Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006145 p.Pro743Leu Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_006146 p.Ala787Val Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_007939 p.Leu440Phe Polymorphism rs1800408 - OCA2 Q04671 VAR_007940 p.Ala481Thr Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020622 p.Arg10Trp Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020623 p.Pro198Leu Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020624 p.Pro211Leu Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020625 p.Arg290Gly Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020626 p.Ala334Val Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020627 p.Val350Met Unclassified - - OCA2 Q04671 VAR_020628 p.Ile370Thr Polymorphism rs34731820 - OCA2 Q04671 VAR_020629 p.Thr387Met Polymorphism - - OCA2 Q04671 VAR_020630 p.Met394Ile Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020631 p.Lys614Glu Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020632 p.Ile617Leu Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020633 p.Glu678Lys Unclassified - - OCA2 Q04671 VAR_020634 p.Trp679Cys Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020635 p.Leu688Phe Unclassified - - OCA2 Q04671 VAR_020636 p.Arg720Cys Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020637 p.Gly795Arg Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_020638 p.Gln799His Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_022019 p.Pro241Arg Polymorphism rs2305253 - OCA2 Q04671 VAR_032094 p.Arg266Trp Polymorphism rs33929465 - OCA2 Q04671 VAR_032095 p.Ala336Val Polymorphism rs34010619 - OCA2 Q04671 VAR_032096 p.Val519Ala Polymorphism rs41446944 - OCA2 Q04671 VAR_032097 p.Arg560His Polymorphism rs35110389 - OCA2 Q04671 VAR_036468 p.Ala773Thr Unclassified - A breast cancer sample OCA2 Q04671 VAR_043700 p.Asn476Asp Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_043701 p.Gly775Arg Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCA2 Q04671 VAR_043702 p.Tyr827His Disease - Albinism oculocutaneous type 2 (OCA2) [MIM:203200] OCEL1 Q9H607 VAR_034356 p.Arg42Leu Polymorphism rs10425488 - OCEL1 Q9H607 VAR_034357 p.Ala109Gly Polymorphism rs891203 - OCIAD2 Q56VL3 VAR_053950 p.Arg44Gln Polymorphism rs7676916 - OCLN Q16625 VAR_064910 p.Phe219Ser Disease - Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:251290] OCRL Q01968 VAR_010169 p.Arg337Pro Disease - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010170 p.Gly357Glu Unclassified rs137853854 - OCRL Q01968 VAR_010172 p.Val372Gly Disease rs137853834 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010173 p.His375Tyr Disease rs137853848 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010174 p.Gly421Glu Disease rs137853855 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010175 p.Asn424Asp Disease rs137853856 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010176 p.Asp451Gly Disease rs137853850 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010177 p.Phe463Ser Disease rs137853851 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010178 p.Cys498Tyr Disease rs137853857 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010179 p.Arg500Gly Disease - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010180 p.Arg500Gln Disease rs137853260 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010181 p.Val508Asp Disease rs137853849 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010182 p.Tyr513Cys Disease rs137853847 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010183 p.Ser522Arg Disease rs137853853 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010184 p.His524Gln Disease rs137853261 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010185 p.His524Arg Disease rs137853852 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010187 p.Ile533Ser Disease - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_010188 p.Ile768Asn Unclassified - - OCRL Q01968 VAR_010189 p.Ala797Pro Unclassified - - OCRL Q01968 VAR_022698 p.Arg318Cys Disease rs137853263 Dent disease type 2 (DD2) [MIM:300555] OCRL Q01968 VAR_022698 p.Arg318Cys Disease rs137853263 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_022699 p.Tyr479Cys Disease rs137853262 Dent disease type 2 (DD2) [MIM:300555] OCRL Q01968 VAR_023958 p.Pro526Leu Disease rs137853858 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064773 p.Phe242Ser Disease rs137853828 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064774 p.Ile274Thr Disease rs137853829 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064775 p.Gln277Arg Disease rs137853830 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064776 p.Arg337Cys Disease rs137853831 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064777 p.Asn354His Disease rs137853833 Dent disease type 2 (DD2) [MIM:300555] OCRL Q01968 VAR_064778 p.Arg361Ile Disease rs137853832 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064779 p.Asn373Tyr Disease rs137853835 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064780 p.Ser374Phe Disease rs137853836 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064781 p.His414Arg Disease rs137853837 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064782 p.Asp451Asn Disease rs137853838 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064783 p.Arg457Gly Disease rs137853839 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064784 p.Glu468Gly Disease rs137853841 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064785 p.Glu468Lys Disease rs137853840 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064786 p.Arg493Trp Disease rs137853846 Dent disease type 2 (DD2) [MIM:300555] OCRL Q01968 VAR_064787 p.Pro495Leu Disease - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064788 p.Asp499His Disease rs137853842 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064789 p.Trp503Arg Disease rs137853843 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064790 p.Asn591Lys Disease rs137853844 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064792 p.Pro799Leu Disease - Dent disease type 2 (DD2) [MIM:300555] OCRL Q01968 VAR_064793 p.Pro801Leu Disease - Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCRL Q01968 VAR_064794 p.Leu891Arg Disease rs137853845 Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] OCSTAMP Q9BR26 VAR_050919 p.Pro565Ser Polymorphism rs847079 - ODAM A1E959 VAR_039812 p.Ile222Thr Polymorphism rs3196714 - ODAM A1E959 VAR_039813 p.Glu269Asp Unclassified - A colorectal cancer sample ODF1 Q14990 VAR_031684 p.Ser216Asn Polymorphism rs2916569 - ODF1 Q14990 VAR_051251 p.Phe243Leu Polymorphism rs11995900 - ODF2L Q9ULJ1 VAR_036882 p.Arg177His Polymorphism rs12032435 - ODF2L Q9ULJ1 VAR_036883 p.Lys350Arg Polymorphism rs17854440 - ODF2 Q5BJF6 VAR_034821 p.Thr710Ser Polymorphism rs16930426 - ODF3L1 Q8IXM7 VAR_062204 p.Pro41Leu Polymorphism rs55905564 - ODF3L2 Q3SX64 VAR_053951 p.Val135Ala Polymorphism rs34551779 - ODF4 Q2M2E3 VAR_035060 p.Trp34Arg Polymorphism rs12943505 - ODF4 Q2M2E3 VAR_035061 p.Val98Met Polymorphism rs12601097 - ODF4 Q2M2E3 VAR_035062 p.Tyr139Cys Polymorphism rs12936935 - ODR4 Q5SWX8 VAR_035059 p.Ser251Cys Polymorphism rs12084264 - OFCC1 Q8IZS5 VAR_043621 p.Ser21Leu Polymorphism rs9477310 - OFCC1 Q8IZS5 VAR_043622 p.Arg123Gln Polymorphism rs9383206 - OFCC1 Q8IZS5 VAR_043623 p.Thr145Ile Polymorphism rs9477211 - OFD1 O75665 VAR_013754 p.Ser435Arg Disease - Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200] OFD1 O75665 VAR_015574 p.Ser74Phe Disease - Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200] OFD1 O75665 VAR_030789 p.Ala79Thr Disease - Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200] OFD1 O75665 VAR_058758 p.Gly138Ser Disease - Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200] OGDHL Q9ULD0 VAR_037125 p.Pro511Leu Polymorphism rs17856755 - OGDHL Q9ULD0 VAR_037126 p.Asp573Asn Polymorphism rs17852386 - OGDHL Q9ULD0 VAR_037127 p.Ser623Cys Polymorphism rs34877195 - OGDHL Q9ULD0 VAR_037128 p.Thr637Met Polymorphism rs11101224 - OGDHL Q9ULD0 VAR_037129 p.Asn725Ser Polymorphism rs2293239 - OGDH Q02218 VAR_050435 p.Val1018Ile Polymorphism rs2070607 - OGFOD1 Q8N543 VAR_032545 p.Pro173Ser Polymorphism rs34883368 - OGFOD3 Q6PK18 VAR_039948 p.Asp67Glu Polymorphism rs8072110 - OGFOD3 Q6PK18 VAR_039949 p.Pro272Arg Polymorphism rs17852152 - OGFRL1 Q5TC84 VAR_037842 p.Ser47Pro Polymorphism - - OGFR Q9NZT2 VAR_030011 p.Ser577Thr Polymorphism rs6122315 - OGFR Q9NZT2 VAR_059706 p.Arg545Ser Polymorphism rs6122313 - OGG1 O15527 VAR_009519 p.Arg46Gln Polymorphism rs104893751 - OGG1 O15527 VAR_009520 p.Arg154His Polymorphism rs56053615 - OGG1 O15527 VAR_009521 p.Ser326Cys Polymorphism rs1052133 - OGG1 O15527 VAR_014487 p.Arg229Gln Polymorphism rs1805373 - OGG1 O15527 VAR_014488 p.Ser320Thr Polymorphism rs1801128 - OGG1 O15527 VAR_018890 p.Ala288Val Polymorphism rs3219012 - OGG1 O15527 VAR_018891 p.Asp322Asn Polymorphism rs3219014 - OGG1 O15527 VAR_024831 p.Gly12Glu Unclassified - - OGG1 O15527 VAR_024832 p.Ala85Ser Polymorphism rs17050550 - OGG1 O15527 VAR_024833 p.Arg131Gln Unclassified - - OGG1 O15527 VAR_024834 p.Ser232Thr Unclassified - - OGT O15294 VAR_064736 p.Leu538Pro Unclassified - - OIT3 Q8WWZ8 VAR_034742 p.Ser237Pro Polymorphism rs35089256 - OLA1 Q9NTK5 VAR_036613 p.Glu168Gln Unclassified - A breast cancer sample OLFM2 O95897 VAR_022550 p.Arg106Gln Polymorphism rs2303100 - OLFM2 O95897 VAR_036532 p.Thr86Met Unclassified - A colorectal cancer sample OLFM2 O95897 VAR_050423 p.Thr127Met Polymorphism rs11556087 - OLFM4 Q6UX06 VAR_037246 p.Ser36Pro Polymorphism rs35790097 - OLFML1 Q6UWY5 VAR_034362 p.Glu113Val Polymorphism rs12805648 - OLFML1 Q6UWY5 VAR_034363 p.Ala259Thr Polymorphism rs12803046 - OLFML2A Q68BL7 VAR_037250 p.Thr309Ala Polymorphism rs7874348 - OLFML2A Q68BL7 VAR_037251 p.Arg425Gln Polymorphism rs16927649 - OLFML2B Q68BL8 VAR_037248 p.Tyr10Cys Polymorphism rs12130792 - OLFML2B Q68BL8 VAR_037249 p.Trp470Arg Polymorphism rs2499836 - OLR1 P78380 VAR_023200 p.Lys167Asn Polymorphism rs11053646 - OMA1 Q96E52 VAR_034958 p.Asn67Lys Polymorphism rs34466938 - OMA1 Q96E52 VAR_034959 p.Pro117Leu Polymorphism rs17117720 - OMA1 Q96E52 VAR_034960 p.Phe211Cys Polymorphism rs17117699 - OMA1 Q96E52 VAR_034961 p.Ile329Leu Polymorphism rs17117678 - OMA1 Q96E52 VAR_035708 p.Leu226Val Unclassified - A colorectal cancer sample OMA1 Q96E52 VAR_065755 p.His69Tyr Unclassified - - OMA1 Q96E52 VAR_065756 p.Glu272Gly Unclassified - - OMA1 Q96E52 VAR_065757 p.Asp365Tyr Polymorphism - - OMD Q99983 VAR_052014 p.Asp200Gly Polymorphism rs34069871 - OMD Q99983 VAR_052015 p.Glu212Gly Polymorphism rs34413259 - OMD Q99983 VAR_052016 p.Ser221Asn Polymorphism rs34860658 - OMD Q99983 VAR_052017 p.Ile282Thr Polymorphism rs35779901 - OMD Q99983 VAR_052018 p.Cys353Trp Polymorphism rs34059114 - OMG P23515 VAR_051252 p.Gly21Asp Polymorphism rs11080149 - OMG P23515 VAR_051253 p.Val435Ala Polymorphism rs16972169 - OMP P47874 VAR_051254 p.Arg26Trp Polymorphism rs2233546 - OMP P47874 VAR_051255 p.Gly36Arg Polymorphism rs2233548 - ONECUT1 Q9UBC0 VAR_010729 p.Pro75Ala Polymorphism - - OOEP A6NGQ2 VAR_042523 p.Ala18Thr Polymorphism rs2280286 - OOEP A6NGQ2 VAR_042524 p.Val92Ala Polymorphism rs496530 - OPA1 O60313 VAR_011483 p.Arg290Gln Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_011484 p.Gly300Glu Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_015741 p.Arg445His Disease - Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_015741 p.Arg445His Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_022924 p.Ser158Asn Polymorphism rs7624750 - OPA1 O60313 VAR_022925 p.Pro167Leu Polymorphism - - OPA1 O60313 VAR_022926 p.Ala192Val Polymorphism rs34307082 - OPA1 O60313 VAR_022927 p.Leu396Arg Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_022928 p.Thr503Lys Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_022929 p.Arg571His Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_026533 p.Ser545Arg Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_028370 p.Leu939Pro Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060825 p.Ala8Ser Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060826 p.Tyr80Cys Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060827 p.Thr95Met Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060828 p.Tyr102Cys Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060829 p.Glu270Lys Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060830 p.Leu272Pro Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060831 p.Asp273Ala Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060832 p.Arg290Trp Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060834 p.Gln310Arg Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060836 p.Ala357Thr Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060837 p.Ile382Met Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060838 p.Leu384Phe Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060839 p.Leu396Pro Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060841 p.Asn430Asp Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060842 p.Asp438Val Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060843 p.Thr449Arg Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060845 p.Lys468Glu Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060846 p.Asp470Gly Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060847 p.Glu487Lys Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060848 p.Lys505Asn Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060849 p.Asp550Asn Polymorphism - - OPA1 O60313 VAR_060851 p.Cys551Tyr Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060852 p.Leu574Pro Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060853 p.Tyr582Cys Disease - Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] OPA1 O60313 VAR_060854 p.Arg590Gln Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060855 p.Arg590Trp Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060856 p.Leu593Pro Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060857 p.Ser646Leu Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060859 p.Asn728Lys Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060860 p.Gly768Asp Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060861 p.Arg781Trp Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060862 p.Gln785Arg Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060863 p.Ser823Tyr Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060864 p.Tyr841Cys Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060865 p.Arg882Leu Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060866 p.Leu887Pro Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060867 p.Glu907Gly Polymorphism - - OPA1 O60313 VAR_060868 p.Arg932Cys Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA1 O60313 VAR_060869 p.Leu949Pro Disease - Optic atrophy type 1 (OPA1) [MIM:165500] OPA3 Q9H6K4 VAR_033103 p.Gly93Ser Disease - Optic atrophy type 3 (OPA3) [MIM:165300] OPA3 Q9H6K4 VAR_033104 p.Gln105Glu Disease - Optic atrophy type 3 (OPA3) [MIM:165300] OPCML Q14982 VAR_055421 p.Pro95Arg Disease - Ovarian cancer (OC) [MIM:167000] OPHN1 O60890 VAR_013638 p.Ala45Thr Polymorphism - - OPHN1 O60890 VAR_013639 p.Thr301Met Polymorphism - - OPHN1 O60890 VAR_033452 p.Met693Ile Polymorphism rs36095561 - OPHN1 O60890 VAR_061184 p.Val39Ile Polymorphism rs41303733 - OPLAH O14841 VAR_050425 p.Ser284Arg Polymorphism rs3935209 - OPN1LW P04000 VAR_004842 p.Ser180Ala Polymorphism rs949431 - OPN1LW P04000 VAR_009298 p.Cys203Arg Disease - Blue cone monochromacy (BCM) [MIM:303700] OPN1LW P04000 VAR_009299 p.Pro307Leu Disease - Blue cone monochromacy (BCM) [MIM:303700] OPN1LW P04000 VAR_012009 p.Thr65Ile Polymorphism rs1065419 - OPN1LW P04000 VAR_012010 p.Ile111Val Polymorphism rs1065421 - OPN1LW P04000 VAR_012011 p.Ser116Tyr Polymorphism rs1065422 - OPN1LW P04000 VAR_012012 p.Leu153Met Polymorphism rs713 - OPN1LW P04000 VAR_012013 p.Ala174Val Polymorphism rs731613 - OPN1LW P04000 VAR_012014 p.Ile230Thr Polymorphism rs1065425 - OPN1LW P04000 VAR_012015 p.Ala298Pro Polymorphism rs1065440 - OPN1LW P04000 VAR_012016 p.Tyr309Phe Polymorphism rs1065441 - OPN1LW P04000 VAR_050612 p.Ile274Val Polymorphism rs2315122 - OPN1LW P04000 VAR_064054 p.Gly338Glu Disease - Partial colorblindness protan series (CBP) [MIM:303900] OPN1MW P04001 VAR_004841 p.Cys203Arg Disease - Blue cone monochromacy (BCM) [MIM:303700] OPN1MW P04001 VAR_004841 p.Cys203Arg Disease - Partial colorblindness deutan series (CBD) [MIM:303800] OPN1MW P04001 VAR_064051 p.Asn94Lys Disease - Partial colorblindness deutan series (CBD) [MIM:303800] OPN1MW P04001 VAR_064052 p.Trp177Arg Disease - Cone dystrophy type 5 (COD5) [MIM:303700] OPN1MW P04001 VAR_064053 p.Arg330Gln Disease - Partial colorblindness deutan series (CBD) [MIM:303800] OPN1SW P03999 VAR_004838 p.Gly79Arg Disease - Tritan color blindness (CBT) [MIM:190900] OPN1SW P03999 VAR_004839 p.Ser214Pro Disease - Tritan color blindness (CBT) [MIM:190900] OPN1SW P03999 VAR_004840 p.Pro264Ser Disease - Tritan color blindness (CBT) [MIM:190900] OPN3 Q9H1Y3 VAR_050613 p.Ala167Val Polymorphism rs12072790 - OPN3 Q9H1Y3 VAR_050614 p.Val183Ile Polymorphism rs2273712 - OPN4 Q9UHM6 VAR_020430 p.Thr394Ile Polymorphism rs1079610 - OPN4 Q9UHM6 VAR_029774 p.Pro10Leu Polymorphism rs2675703 - OPN4 Q9UHM6 VAR_029775 p.Gly444Asp Polymorphism rs12262894 - OPRD1 P41143 VAR_012083 p.Cys27Phe Polymorphism rs1042114 - OPRK1 P41145 VAR_028067 p.Asp374Asn Polymorphism rs9282808 - OPRM1 P35372 VAR_009524 p.Asn40Asp Polymorphism rs1799971 - OPRM1 P35372 VAR_009525 p.Ala6Val Polymorphism rs1799972 - OPRM1 P35372 VAR_009526 p.Ser147Cys Polymorphism rs17174794 - OPRM1 P35372 VAR_009527 p.Arg260His Polymorphism rs1799974 - OPRM1 P35372 VAR_019252 p.Asn152Asp Polymorphism rs17174801 - OPRM1 P35372 VAR_019253 p.Arg265Cys Polymorphism rs17174822 - OPRM1 P35372 VAR_019254 p.Asp274Asn Polymorphism rs17174829 - OPRM1 P35372 VAR_049426 p.Gly63Val Polymorphism rs9282817 - OPRM1 P35372 VAR_049427 p.Ser66Phe Polymorphism rs9282819 - OPTC Q9UBM4 VAR_055228 p.Ile182Thr Polymorphism - - OPTC Q9UBM4 VAR_055229 p.Arg229Cys Polymorphism - - OPTC Q9UBM4 VAR_055230 p.Arg325Trp Polymorphism rs56219555 - OPTN Q96CV9 VAR_021537 p.His26Asp Disease - Primary open angle glaucoma type 1E (GLC1E) [MIM:137760] OPTN Q96CV9 VAR_021538 p.Glu50Lys Disease rs28939688 Primary open angle glaucoma type 1E (GLC1E) [MIM:137760] OPTN Q96CV9 VAR_021539 p.Met98Lys Polymorphism rs11258194 - OPTN Q96CV9 VAR_021540 p.Glu103Asp Disease - Primary open angle glaucoma type 1E (GLC1E) [MIM:137760] OPTN Q96CV9 VAR_021541 p.Pro201Ser Polymorphism - - OPTN Q96CV9 VAR_021542 p.Lys213His Unclassified - - OPTN Q96CV9 VAR_021543 p.Ser216Arg Polymorphism - - OPTN Q96CV9 VAR_021544 p.Lys322Glu Polymorphism rs523747 - OPTN Q96CV9 VAR_021545 p.Thr357Pro Polymorphism - - OPTN Q96CV9 VAR_021546 p.His486Arg Disease - Primary open angle glaucoma type 1E (GLC1E) [MIM:137760] OPTN Q96CV9 VAR_021547 p.Arg545Gln Unclassified rs28939689 - OPTN Q96CV9 VAR_030769 p.Ser308Pro Polymorphism rs7068431 - OPTN Q96CV9 VAR_063597 p.Glu478Gly Disease - Amyotrophic lateral sclerosis type 12 (ALS12) [MIM:613435] OR10A2 Q9H208 VAR_034277 p.His207Arg Polymorphism rs10839631 - OR10A2 Q9H208 VAR_034278 p.Ile240Thr Polymorphism rs10839632 - OR10A2 Q9H208 VAR_034279 p.Lys258Thr Polymorphism rs7926083 - OR10A2 Q9H208 VAR_053261 p.Ala134Thr Polymorphism rs2741764 - OR10A2 Q9H208 VAR_060022 p.His43Arg Polymorphism rs3930075 - OR10A3 P58181 VAR_053262 p.Phe20Val Polymorphism rs16934214 - OR10A4 Q9H209 VAR_024124 p.Arg262Gln Polymorphism rs10839635 - OR10A4 Q9H209 VAR_034280 p.Arg221His Polymorphism rs7938371 - OR10A4 Q9H209 VAR_034281 p.Leu246Phe Polymorphism rs16919049 - OR10A4 Q9H209 VAR_060023 p.Leu206Pro Polymorphism rs2595453 - OR10A5 Q9H207 VAR_034282 p.Lys41Met Polymorphism rs7949377 - OR10A6 Q8NH74 VAR_053263 p.Ala117Val Polymorphism rs7928451 - OR10A6 Q8NH74 VAR_053264 p.Val140Gly Polymorphism rs7933807 - OR10A6 Q8NH74 VAR_053265 p.Leu287Pro Polymorphism rs4758258 - OR10A7 Q8NGE5 VAR_053266 p.Gly96Ser Polymorphism rs12578318 - OR10AD1 Q8NGE0 VAR_024125 p.Tyr279His Polymorphism rs11168459 - OR10AD1 Q8NGE0 VAR_053267 p.Val8Ala Polymorphism rs17122812 - OR10AD1 Q8NGE0 VAR_053268 p.Arg166Gln Polymorphism rs17224674 - OR10AD1 Q8NGE0 VAR_053269 p.Phe275Val Polymorphism rs11830378 - OR10C1 Q96KK4 VAR_037822 p.Pro57Ser Polymorphism rs17184016 - OR10C1 Q96KK4 VAR_037823 p.Phe60Leu Polymorphism rs2074469 - OR10C1 Q96KK4 VAR_037824 p.Arg89Ser Polymorphism rs11755182 - OR10C1 Q96KK4 VAR_037825 p.Met100Val Polymorphism rs17177632 - OR10C1 Q96KK4 VAR_037826 p.Arg121Cys Polymorphism rs17177639 - OR10C1 Q96KK4 VAR_037827 p.Arg138Trp Polymorphism rs17177646 - OR10C1 Q96KK4 VAR_037828 p.Pro160Ser Polymorphism rs2074468 - OR10C1 Q96KK4 VAR_037829 p.Phe161Leu Polymorphism rs2074467 - OR10C1 Q96KK4 VAR_037830 p.Pro174Gln Polymorphism rs2074466 - OR10C1 Q96KK4 VAR_037831 p.Met246Val Polymorphism rs2074464 - OR10C1 Q96KK4 VAR_037832 p.Leu255Ile Polymorphism rs17177674 - OR10C1 Q96KK4 VAR_037833 p.Met310Arg Polymorphism rs11968123 - OR10G2 Q8NGC3 VAR_053270 p.Leu67Phe Polymorphism rs10146821 - OR10G2 Q8NGC3 VAR_053271 p.Arg85Leu Polymorphism rs41314525 - OR10G2 Q8NGC3 VAR_053272 p.Arg187Pro Polymorphism rs35963889 - OR10G2 Q8NGC3 VAR_053273 p.Arg209Gly Polymorphism rs12894405 - OR10G3 Q8NGC4 VAR_053274 p.Ser73Gly Polymorphism rs17792778 - OR10G4 Q8NGN3 VAR_034283 p.Val195Glu Polymorphism rs4084209 - OR10G4 Q8NGN3 VAR_034284 p.Arg235Gly Polymorphism rs4936880 - OR10G4 Q8NGN3 VAR_053275 p.Leu24Pro Polymorphism rs547068 - OR10G4 Q8NGN3 VAR_053276 p.Met134Val Polymorphism rs1893766 - OR10G4 Q8NGN3 VAR_053277 p.Pro181Ser Polymorphism rs1893764 - OR10G4 Q8NGN3 VAR_053278 p.Arg226Gln Polymorphism rs11219408 - OR10G4 Q8NGN3 VAR_053279 p.Lys295Gln Polymorphism rs4936881 - OR10G4 Q8NGN3 VAR_060025 p.Tyr101Cys Polymorphism rs4474449 - OR10G4 Q8NGN3 VAR_060026 p.Gly146Cys Polymorphism rs503223 - OR10G4 Q8NGN3 VAR_060027 p.Gly146Arg Polymorphism rs503223 - OR10G4 Q8NGN3 VAR_060028 p.Gly146Ser Polymorphism rs503223 - OR10G7 Q8NGN6 VAR_024126 p.Thr5Ser Polymorphism rs3894197 - OR10G7 Q8NGN6 VAR_034285 p.Thr136Ser Polymorphism rs513591 - OR10G7 Q8NGN6 VAR_048060 p.Thr13Met Polymorphism rs11827843 - OR10G7 Q8NGN6 VAR_048061 p.Ala18Val Polymorphism rs3894198 - OR10G7 Q8NGN6 VAR_048062 p.Gly20Ala Polymorphism rs3894199 - OR10G7 Q8NGN6 VAR_048063 p.Ile28Val Polymorphism rs11219420 - OR10G7 Q8NGN6 VAR_048064 p.Thr90Ala Polymorphism rs470208 - OR10G9 Q8NGN4 VAR_034286 p.Ser136Thr Polymorphism rs17128190 - OR10G9 Q8NGN4 VAR_034287 p.Gln172Arg Polymorphism rs11219413 - OR10G9 Q8NGN4 VAR_053280 p.Met134Val Polymorphism rs12366219 - OR10G9 Q8NGN4 VAR_060029 p.His228Arg Polymorphism rs12221656 - OR10H1 Q9Y4A9 VAR_024127 p.Gly16Arg Polymorphism rs4808383 - OR10H1 Q9Y4A9 VAR_054124 p.Ala65Val Polymorphism rs4808382 - OR10H1 Q9Y4A9 VAR_054125 p.His175Gln Polymorphism rs1859298 - OR10H2 O60403 VAR_022049 p.Ser171Phe Polymorphism rs1806931 - OR10H2 O60403 VAR_062062 p.Leu40Gln Polymorphism rs4569397 - OR10H3 O60404 VAR_020381 p.Val224Met Polymorphism rs2240228 - OR10H3 O60404 VAR_020382 p.Ser293Asn Polymorphism rs2240229 - OR10H3 O60404 VAR_024128 p.Arg7Ser Polymorphism rs1966357 - OR10H3 O60404 VAR_034288 p.Leu14Ile Polymorphism rs2240227 - OR10H3 O60404 VAR_034289 p.Arg54His Polymorphism rs11670007 - OR10H4 Q8NGA5 VAR_034290 p.Asn100Lys Polymorphism rs16980994 - OR10H4 Q8NGA5 VAR_034291 p.His144Arg Polymorphism rs16980822 - OR10H4 Q8NGA5 VAR_062063 p.Thr281Ala Polymorphism rs11880184 - OR10J1 P30954 VAR_034292 p.Met62Ile Polymorphism rs10908722 - OR10J1 P30954 VAR_034293 p.Met112Ile Polymorphism rs12118628 - OR10J1 P30954 VAR_053281 p.Ile103Met Polymorphism rs12048482 - OR10J3 Q5JRS4 VAR_053282 p.Gln235Arg Polymorphism rs11265165 - OR10J5 Q8NHC4 VAR_062064 p.Arg233Trp Polymorphism rs35393723 - OR10K2 Q6IF99 VAR_053283 p.Ala208Thr Polymorphism rs12240099 - OR10P1 Q8NGE3 VAR_034294 p.Pro88Leu Polymorphism rs10876838 - OR10P1 Q8NGE3 VAR_034295 p.Val200Met Polymorphism rs7970885 - OR10Q1 Q8NGQ4 VAR_024129 p.Glu12Asp Polymorphism rs4245219 - OR10Q1 Q8NGQ4 VAR_062065 p.Arg191Cys Polymorphism rs11229301 - OR10R2 Q8NGX6 VAR_054355 p.Ala191Thr Polymorphism rs3820678 - OR10R2 Q8NGX6 VAR_054356 p.Glu216Gly Polymorphism rs6679056 - OR10R2 Q8NGX6 VAR_054357 p.Leu239Phe Polymorphism rs1418843 - OR10S1 Q8NGN2 VAR_054358 p.Gly63Ser Polymorphism rs17759513 - OR10S1 Q8NGN2 VAR_054359 p.Lys93Arg Polymorphism rs17686210 - OR10S1 Q8NGN2 VAR_054360 p.Ala112Val Polymorphism rs17759447 - OR10T2 Q8NGX3 VAR_053284 p.Val16Ala Polymorphism rs6660222 - OR10T2 Q8NGX3 VAR_053285 p.Phe65Leu Polymorphism rs41488350 - OR10T2 Q8NGX3 VAR_053286 p.Ile78Val Polymorphism rs6662597 - OR10T2 Q8NGX3 VAR_053287 p.Ile137Met Polymorphism rs6662382 - OR10T2 Q8NGX3 VAR_053288 p.Phe155Leu Polymorphism rs12062580 - OR10T2 Q8NGX3 VAR_053289 p.Lys312Asn Polymorphism rs6692949 - OR10V1 Q8NGI7 VAR_034296 p.Gln123Arg Polymorphism rs499033 - OR10V1 Q8NGI7 VAR_048065 p.Val117Ala Polymorphism rs472177 - OR10W1 Q8NGF6 VAR_057568 p.Arg263Gln Polymorphism rs10792156 - OR10X1 Q8NGY0 VAR_053290 p.Ile60Thr Polymorphism rs863363 - OR10X1 Q8NGY0 VAR_053291 p.Ala81Ser Polymorphism rs950164 - OR10X1 Q8NGY0 VAR_053292 p.Ser172Pro Polymorphism rs7550131 - OR10X1 Q8NGY0 VAR_053293 p.Phe180Leu Polymorphism rs16840360 - OR10Z1 Q8NGY1 VAR_034297 p.Asn294Thr Polymorphism rs857685 - OR11A1 Q9GZK7 VAR_010955 p.Ala165Thr Polymorphism rs9257857 - OR11A1 Q9GZK7 VAR_053294 p.Tyr121Cys Polymorphism rs16894898 - OR11G2 Q8NGC1 VAR_047237 p.Ile99Asn Polymorphism rs4981822 - OR11G2 Q8NGC1 VAR_047238 p.Val116Ile Polymorphism rs4981088 - OR11H4 Q8NGC9 VAR_034298 p.Thr301Ser Polymorphism rs17277270 - OR11H6 Q8NGC7 VAR_024130 p.Leu32Val Polymorphism rs9323693 - OR11H6 Q8NGC7 VAR_034299 p.Ser7Tyr Polymorphism rs10140652 - OR11H6 Q8NGC7 VAR_034300 p.Ile107Thr Polymorphism rs12891553 - OR11H6 Q8NGC7 VAR_034301 p.Arg146His Polymorphism rs17106351 - OR11H6 Q8NGC7 VAR_034302 p.Leu195Phe Polymorphism rs17211285 - OR11H6 Q8NGC7 VAR_034303 p.Tyr236His Polymorphism rs17277221 - OR11H6 Q8NGC7 VAR_034304 p.Cys259Arg Polymorphism rs17277228 - OR11L1 Q8NGX0 VAR_034305 p.Phe117Leu Polymorphism rs4607924 - OR11L1 Q8NGX0 VAR_053295 p.Gly108Ser Polymorphism rs10888257 - OR11L1 Q8NGX0 VAR_053296 p.Ala142Thr Polymorphism rs10888256 - OR11L1 Q8NGX0 VAR_053297 p.Arg171Pro Polymorphism rs10888255 - OR12D2 P58182 VAR_057569 p.Val47Phe Polymorphism rs9257834 - OR12D2 P58182 VAR_057570 p.Leu56Pro Polymorphism rs4987411 - OR12D2 P58182 VAR_057571 p.Phe113Leu Polymorphism rs2073154 - OR12D2 P58182 VAR_057572 p.Leu120Arg Polymorphism rs2073153 - OR12D2 P58182 VAR_057573 p.Ser121Cys Polymorphism rs2073152 - OR12D2 P58182 VAR_057574 p.Val132Gly Polymorphism rs11752608 - OR12D2 P58182 VAR_057575 p.Val159Ile Polymorphism rs2073151 - OR12D2 P58182 VAR_058967 p.Ser104Phe Polymorphism rs3128853 - OR12D3 Q9UGF7 VAR_020383 p.Thr97Ile Polymorphism rs3749971 - OR12D3 Q9UGF7 VAR_036209 p.Phe250Leu Unclassified - A breast cancer sample OR12D3 Q9UGF7 VAR_053298 p.Tyr277His Polymorphism rs9380122 - OR13C2 Q8NGS9 VAR_060030 p.Ser160Thr Polymorphism rs1851716 - OR13C2 Q8NGS9 VAR_060031 p.Lys301Glu Polymorphism rs10156474 - OR13C3 Q8NGS6 VAR_024131 p.Lys293Thr Polymorphism rs10512330 - OR13C5 Q8NGS8 VAR_024132 p.Cys189Tyr Polymorphism rs4117966 - OR13C5 Q8NGS8 VAR_024133 p.Met258Thr Polymorphism rs1851724 - OR13C5 Q8NGS8 VAR_024134 p.Ile282Val Polymorphism rs1523678 - OR13C5 Q8NGS8 VAR_024135 p.Met290Thr Polymorphism rs1851725 - OR13C5 Q8NGS8 VAR_034306 p.Phe32Leu Polymorphism rs6479260 - OR13C5 Q8NGS8 VAR_053299 p.Ser18Phe Polymorphism rs1851722 - OR13C5 Q8NGS8 VAR_053300 p.Asn195Ser Polymorphism rs6479259 - OR13C5 Q8NGS8 VAR_060032 p.Leu69Met Polymorphism rs7042502 - OR13C5 Q8NGS8 VAR_060033 p.Leu86Val Polymorphism rs4629933 - OR13C5 Q8NGS8 VAR_060034 p.Val117Met Polymorphism rs2417534 - OR13C8 Q8NGS7 VAR_034307 p.Ala19Asp Polymorphism rs7026705 - OR13C9 Q8NGT0 VAR_024136 p.Glu24Asp Polymorphism rs2900373 - OR13C9 Q8NGT0 VAR_034308 p.Thr91Ser Polymorphism rs993658 - OR13C9 Q8NGT0 VAR_053301 p.Phe197Leu Polymorphism rs10761054 - OR13D1 Q8NGV5 VAR_055070 p.Phe21Leu Polymorphism rs10991359 - OR13D1 Q8NGV5 VAR_055071 p.Leu64Val Polymorphism rs13294411 - OR13D1 Q8NGV5 VAR_055072 p.Gln191His Polymorphism rs10820709 - OR13D1 Q8NGV5 VAR_055073 p.Ser277Leu Polymorphism rs10761073 - OR13D1 Q8NGV5 VAR_062066 p.Met113Val Polymorphism rs56241491 - OR13F1 Q8NGS4 VAR_024137 p.Met101Val Polymorphism rs1403812 - OR13F1 Q8NGS4 VAR_034309 p.Phe18Ser Polymorphism rs7049042 - OR13F1 Q8NGS4 VAR_034310 p.Phe94Ser Polymorphism rs7018553 - OR13F1 Q8NGS4 VAR_034311 p.Thr254Met Polymorphism rs7030820 - OR13F1 Q8NGS4 VAR_053302 p.Val134Ile Polymorphism rs1403811 - OR13F1 Q8NGS4 VAR_053303 p.Ile270Thr Polymorphism rs7847413 - OR13G1 Q8NGZ3 VAR_048038 p.Ile132Val Polymorphism rs1151640 - OR13G1 Q8NGZ3 VAR_062067 p.Lys46Ile Polymorphism rs28711149 - OR13G1 Q8NGZ3 VAR_062068 p.Met146Leu Polymorphism rs28556931 - OR13G1 Q8NGZ3 VAR_062069 p.Arg224Cys Polymorphism rs28446289 - OR13H1 Q8NG92 VAR_034312 p.Tyr266Ser Polymorphism rs655415 - OR13J1 Q8NGT2 VAR_053304 p.His133Arg Polymorphism rs7044405 - OR14A16 Q8NHC5 VAR_043796 p.Ile238Thr Polymorphism rs6695283 - OR14C36 Q8NHC7 VAR_062070 p.Gln141Arg Polymorphism rs28448343 - OR14C36 Q8NHC7 VAR_062071 p.Gly225Arg Polymorphism rs28377739 - OR14C36 Q8NHC7 VAR_062072 p.Asp231Tyr Polymorphism rs28545014 - OR14I1 A6ND48 VAR_037030 p.Val36Ala Polymorphism rs4462184 - OR14I1 A6ND48 VAR_037031 p.Asp50Asn Polymorphism rs4509608 - OR14I1 A6ND48 VAR_037032 p.Ser170Asn Polymorphism rs2000390 - OR14I1 A6ND48 VAR_062073 p.Leu84Met Polymorphism rs41311583 - OR14I1 A6ND48 VAR_062074 p.Tyr216Cys Polymorphism rs55871516 - OR14J1 Q9UGF5 VAR_034234 p.Met7Thr Polymorphism rs9257694 - OR14J1 Q9UGF5 VAR_034235 p.Val278Met Polymorphism rs17404424 - OR1A1 Q9P1Q5 VAR_020380 p.Pro285Ser Polymorphism rs769427 - OR1A1 Q9P1Q5 VAR_034161 p.Val233Met Polymorphism rs17762735 - OR1A1 Q9P1Q5 VAR_047080 p.Arg128His Polymorphism rs4375699 - OR1A2 Q9Y585 VAR_022047 p.Gly256Cys Polymorphism rs2241091 - OR1A2 Q9Y585 VAR_034162 p.Arg260Cys Polymorphism rs2469791 - OR1A2 Q9Y585 VAR_034163 p.Trp293Cys Polymorphism rs12150427 - OR1A2 Q9Y585 VAR_062007 p.Leu244Phe Polymorphism rs56058341 - OR1B1 Q8NGR6 VAR_053114 p.Leu149Ser Polymorphism rs1536929 - OR1B1 Q8NGR6 VAR_053115 p.Ala230Thr Polymorphism rs1476859 - OR1B1 Q8NGR6 VAR_053116 p.Cys263Trp Polymorphism rs1476858 - OR1B1 Q8NGR6 VAR_053117 p.Val314Gly Polymorphism rs1556189 - OR1C1 Q15619 VAR_053118 p.Thr209Met Polymorphism rs12068080 - OR1D2 P34982 VAR_019630 p.Arg25Gln Polymorphism rs769423 - OR1D2 P34982 VAR_057534 p.Phe31Tyr Polymorphism rs9916628 - OR1D2 P34982 VAR_057535 p.Thr240Ile Polymorphism rs4300683 - OR1D2 P34982 VAR_062008 p.Val214Met Polymorphism rs55803944 - OR1E1 P30953 VAR_010226 p.Ala143Thr Polymorphism - - OR1E1 P30953 VAR_053119 p.Pro129Leu Polymorphism rs1735011 - OR1E1 P30953 VAR_053120 p.Ser262Pro Polymorphism rs379856 - OR1E2 P47887 VAR_029292 p.Cys27Arg Polymorphism rs769431 - OR1E2 P47887 VAR_036207 p.His168Asp Unclassified - A colorectal cancer sample OR1F1 O43749 VAR_024086 p.Phe75Ser Polymorphism rs1834026 - OR1F1 O43749 VAR_053121 p.Val126Met Polymorphism rs8045183 - OR1G1 P47890 VAR_053122 p.Gln88His Polymorphism rs9892491 - OR1I1 O60431 VAR_034164 p.Pro139Arg Polymorphism rs8104843 - OR1I1 O60431 VAR_034165 p.Phe211Leu Polymorphism rs8108721 - OR1I1 O60431 VAR_034166 p.Tyr252Ser Polymorphism rs8105737 - OR1I1 O60431 VAR_034167 p.Ile292Thr Polymorphism rs16980312 - OR1I1 O60431 VAR_062009 p.Ile50Phe Polymorphism rs59166286 - OR1J1 Q8NGS3 VAR_059978 p.Asn318Ser Polymorphism rs1962091 - OR1J2 Q8NGS2 VAR_053123 p.Arg165Gln Polymorphism rs4836891 - OR1J2 Q8NGS2 VAR_062010 p.Ala119Thr Polymorphism rs41277120 - OR1K1 Q8NGR3 VAR_034168 p.Trp271Arg Polymorphism rs7046603 - OR1L1 Q8NH94 VAR_047141 p.Ser145Gly Polymorphism rs70157 - OR1L1 Q8NH94 VAR_047142 p.Thr149Ala Polymorphism rs16912055 - OR1L1 Q8NH94 VAR_047143 p.Leu308Val Polymorphism rs237620 - OR1L1 Q8NH94 VAR_047144 p.Gly349Arg Polymorphism rs16912062 - OR1L3 Q8NH93 VAR_034169 p.Val106Ala Polymorphism rs16912096 - OR1L3 Q8NH93 VAR_034170 p.Asn121Asp Polymorphism rs16912099 - OR1L3 Q8NH93 VAR_059979 p.Arg54Gly Polymorphism rs12379744 - OR1L4 Q8NGR5 VAR_053124 p.Gly234Arg Polymorphism rs2215530 - OR1L4 Q8NGR5 VAR_053125 p.Tyr310His Polymorphism rs12341025 - OR1L6 Q8NGR2 VAR_055056 p.Gln59Lys Polymorphism rs10760252 - OR1L6 Q8NGR2 VAR_055057 p.Cys186Tyr Polymorphism rs4838012 - OR1L6 Q8NGR2 VAR_055058 p.Ile251Thr Polymorphism rs10985760 - OR1L6 Q8NGR2 VAR_055059 p.Met259Ile Polymorphism rs10818741 - OR1L8 Q8NGR8 VAR_024087 p.Thr27Pro Polymorphism rs10985704 - OR1L8 Q8NGR8 VAR_024088 p.Arg211Pro Polymorphism rs10739614 - OR1N1 Q8NGS0 VAR_024089 p.Pro18Ser Polymorphism rs10818708 - OR1N1 Q8NGS0 VAR_036208 p.Thr190Asn Unclassified - A breast cancer sample OR1N1 Q8NGS0 VAR_062011 p.Arg227Gln Polymorphism rs58226717 - OR1N2 Q8NGR9 VAR_048028 p.Trp37Arg Polymorphism rs1831370 - OR1N2 Q8NGR9 VAR_048029 p.Val244Gly Polymorphism rs1341044 - OR1N2 Q8NGR9 VAR_048030 p.Thr301Met Polymorphism rs1411272 - OR1N2 Q8NGR9 VAR_062012 p.Arg237Cys Polymorphism rs41316976 - OR1Q1 Q15612 VAR_024768 p.Ile163Met Polymorphism rs1329957 - OR1Q1 Q15612 VAR_053126 p.Gln24Arg Polymorphism rs972925 - OR1Q1 Q15612 VAR_053127 p.Thr240Ala Polymorphism rs727913 - OR1S1 Q8NH92 VAR_048039 p.Ser5Gly Polymorphism rs1966836 - OR1S1 Q8NH92 VAR_048040 p.Ile123Thr Polymorphism rs1966835 - OR1S1 Q8NH92 VAR_048041 p.His135Arg Polymorphism rs1966834 - OR1S1 Q8NH92 VAR_048042 p.Asn183Asp Polymorphism rs1993088 - OR1S1 Q8NH92 VAR_048043 p.Leu206Met Polymorphism rs2867400 - OR1S1 Q8NH92 VAR_048044 p.Ser227Ile Polymorphism rs2903566 - OR1S2 Q8NGQ3 VAR_059980 p.Val225Ala Polymorphism rs11229277 - OR1S2 Q8NGQ3 VAR_059981 p.Val225Ile Polymorphism rs11229278 - OR1S2 Q8NGQ3 VAR_062013 p.Ile59Thr Polymorphism rs11229281 - OR2A12 Q8NGT7 VAR_034171 p.Ala223Thr Polymorphism rs9655672 - OR2A14 Q96R47 VAR_060477 p.Ser133Ile Polymorphism rs2961160 - OR2A14 Q96R47 VAR_060478 p.Ser164Arg Polymorphism rs2961161 - OR2A25 A4D2G3 VAR_054664 p.Ser75Asn Polymorphism rs6951485 - OR2A25 A4D2G3 VAR_054665 p.Ala209Pro Polymorphism rs2961135 - OR2A2 Q6IF42 VAR_053128 p.Leu210Pro Polymorphism rs10252253 - OR2A2 Q6IF42 VAR_059982 p.Gln5Lys Polymorphism rs10230228 - OR2A2 Q6IF42 VAR_059983 p.Phe280Leu Polymorphism rs2961149 - OR2A5 Q96R48 VAR_053129 p.Ile126Val Polymorphism rs2961144 - OR2A5 Q96R48 VAR_053130 p.Ala202Ser Polymorphism rs6464573 - OR2A5 Q96R48 VAR_059984 p.Ala255Thr Polymorphism rs6464574 - OR2AE1 Q8NHA4 VAR_053138 p.Ile77Thr Polymorphism rs2572023 - OR2AE1 Q8NHA4 VAR_053139 p.Leu267Val Polymorphism rs17161997 - OR2AE1 Q8NHA4 VAR_062019 p.Tyr217Cys Polymorphism rs60737583 - OR2AG1 Q9H205 VAR_053140 p.Val187Leu Polymorphism rs2659880 - OR2AG1 Q9H205 VAR_059985 p.Arg299Gly Polymorphism rs2659879 - OR2AG1 Q9H205 VAR_059986 p.Arg299Trp Polymorphism rs2659879 - OR2AG2 A6NM03 VAR_037497 p.Tyr28Cys Polymorphism rs7102536 - OR2AG2 A6NM03 VAR_037498 p.Arg54Pro Polymorphism rs10839616 - OR2AG2 A6NM03 VAR_037499 p.Arg87Leu Polymorphism rs11828782 - OR2AG2 A6NM03 VAR_037500 p.Arg299Gly Polymorphism rs7924459 - OR2AK2 Q8NG84 VAR_055051 p.Ser99Asn Polymorphism rs6664332 - OR2AK2 Q8NG84 VAR_055052 p.Val203Met Polymorphism rs4478844 - OR2B11 Q5JQS5 VAR_053132 p.Val198Met Polymorphism rs6695302 - OR2B11 Q5JQS5 VAR_053133 p.Gly223Asp Polymorphism rs4925663 - OR2B11 Q5JQS5 VAR_053134 p.Thr293Ile Polymorphism rs12065526 - OR2B11 Q5JQS5 VAR_053135 p.Asp300Gly Polymorphism rs12070953 - OR2B11 Q5JQS5 VAR_062015 p.Ile130Ser Polymorphism rs11583410 - OR2B2 Q9GZK3 VAR_010943 p.Gln234Arg Polymorphism rs34957169 - OR2B2 Q9GZK3 VAR_057536 p.Ala183Pro Polymorphism rs9368537 - OR2B2 Q9GZK3 VAR_062014 p.Ala300Ser Polymorphism rs34788973 - OR2B6 P58173 VAR_024090 p.Gln270Arg Polymorphism rs9380030 - OR2B6 P58173 VAR_053131 p.Val117Ile Polymorphism rs7767176 - OR2C1 O95371 VAR_047490 p.Gly16Ser Polymorphism rs1218762 - OR2C1 O95371 VAR_047491 p.Cys149Trp Polymorphism rs1218763 - OR2C1 O95371 VAR_047492 p.Arg229His Polymorphism rs11648783 - OR2C3 Q8N628 VAR_025540 p.Thr20Ala Polymorphism rs6697472 - OR2C3 Q8N628 VAR_025541 p.Pro68Ser Polymorphism rs6657127 - OR2C3 Q8N628 VAR_046378 p.Arg129Ser Polymorphism rs34220133 - OR2C3 Q8N628 VAR_062016 p.Leu289Val Polymorphism rs6702693 - OR2D2 Q9H210 VAR_046723 p.Ser148Pro Polymorphism rs1965209 - OR2D2 Q9H210 VAR_046724 p.Ile163Met Polymorphism rs1965207 - OR2D2 Q9H210 VAR_046725 p.Ile163Thr Polymorphism rs1965208 - OR2D2 Q9H210 VAR_046726 p.Met202Thr Polymorphism rs2741804 - OR2D2 Q9H210 VAR_062017 p.His84Tyr Polymorphism rs57896484 - OR2D2 Q9H210 VAR_062018 p.Arg220Gly Polymorphism rs60116285 - OR2D3 Q8NGH3 VAR_057537 p.Leu82Ile Polymorphism rs10839658 - OR2D3 Q8NGH3 VAR_057538 p.Arg155Trp Polymorphism rs12806437 - OR2D3 Q8NGH3 VAR_057539 p.Trp165Ser Polymorphism rs10839659 - OR2F1 Q13607 VAR_053136 p.Arg122Cys Polymorphism rs2072164 - OR2F1 Q13607 VAR_053137 p.His137Arg Polymorphism rs2072165 - OR2F2 O95006 VAR_022048 p.Ala98Val Polymorphism rs2240359 - OR2F2 O95006 VAR_034172 p.Thr170Ala Polymorphism rs13229174 - OR2F2 O95006 VAR_034173 p.Tyr278His Polymorphism rs13235235 - OR2G2 Q8NGZ5 VAR_034174 p.Pro24Ala Polymorphism rs12737801 - OR2G2 Q8NGZ5 VAR_034175 p.Val120Leu Polymorphism rs1151687 - OR2G2 Q8NGZ5 VAR_034176 p.Leu167Pro Polymorphism rs10925085 - OR2G2 Q8NGZ5 VAR_034177 p.Arg236Gly Polymorphism rs869111 - OR2G3 Q8NGZ4 VAR_034178 p.Val258Met Polymorphism rs12072304 - OR2G3 Q8NGZ4 VAR_053141 p.Leu164Ser Polymorphism rs6658792 - OR2G6 Q5TZ20 VAR_053142 p.Met258Leu Polymorphism rs9330305 - OR2G6 Q5TZ20 VAR_062020 p.Met59Val Polymorphism rs58955396 - OR2H1 Q9GZK4 VAR_010944 p.Asp63Asn Polymorphism - - OR2H1 Q9GZK4 VAR_053143 p.Val223Met Polymorphism rs17184086 - OR2H2 O95918 VAR_010227 p.Leu30Ser Polymorphism - - OR2H2 O95918 VAR_010228 p.Ala48Val Polymorphism rs1233387 - OR2H2 O95918 VAR_010229 p.Thr220Ala Polymorphism - - OR2H2 O95918 VAR_023231 p.Leu30Ile Polymorphism rs3129034 - OR2H2 O95918 VAR_057540 p.Val38Met Polymorphism rs11966382 - OR2H2 O95918 VAR_058087 p.Leu30Phe Polymorphism rs3129034 - OR2J1 Q9GZK6 VAR_019066 p.Leu14Ile Polymorphism - - OR2J2 O76002 VAR_010945 p.His74Tyr Polymorphism rs3116855 - OR2J2 O76002 VAR_010946 p.Ala111Thr Polymorphism rs3129157 - OR2J2 O76002 VAR_010947 p.Ala146Val Polymorphism rs3116856 - OR2J2 O76002 VAR_010948 p.Ala218Thr Polymorphism rs3130743 - OR2J3 O76001 VAR_010949 p.Thr113Ala Polymorphism rs28757581 - OR2J3 O76001 VAR_010950 p.Arg226Gln Polymorphism rs3749977 - OR2J3 O76001 VAR_010951 p.Val228Ile Polymorphism rs3130764 - OR2J3 O76001 VAR_010952 p.Ile261Met Polymorphism rs3130765 - OR2L13 Q8N349 VAR_053148 p.Leu156Phe Polymorphism rs12742561 - OR2L13 Q8N349 VAR_062025 p.Arg265His Polymorphism rs45577033 - OR2L2 Q8NH16 VAR_053144 p.Phe249Leu Polymorphism rs12134979 - OR2L2 Q8NH16 VAR_053145 p.Val259Leu Polymorphism rs6658141 - OR2L3 Q8NG85 VAR_053146 p.Ser104Leu Polymorphism rs6658256 - OR2L3 Q8NG85 VAR_062021 p.Ile39Thr Polymorphism rs6666048 - OR2L3 Q8NG85 VAR_062022 p.Pro78Leu Polymorphism rs6658227 - OR2L3 Q8NG85 VAR_062023 p.Met139Val Polymorphism rs55937620 - OR2L8 Q8NGY9 VAR_053147 p.Tyr217Cys Polymorphism rs4925583 - OR2L8 Q8NGY9 VAR_059987 p.Gly196Cys Polymorphism rs4925788 - OR2L8 Q8NGY9 VAR_059988 p.Ala202Thr Polymorphism rs4925790 - OR2L8 Q8NGY9 VAR_059989 p.Lys294Arg Polymorphism rs10888282 - OR2L8 Q8NGY9 VAR_062024 p.His226Arg Polymorphism rs4925792 - OR2M2 Q96R28 VAR_034179 p.Ala237Thr Polymorphism rs9435890 - OR2M2 Q96R28 VAR_059990 p.Arg220Gly Polymorphism rs4244171 - OR2M2 Q96R28 VAR_059991 p.Cys235Arg Polymorphism rs4916104 - OR2M2 Q96R28 VAR_062026 p.Ser87Cys Polymorphism rs61156873 - OR2M5 A3KFT3 VAR_064739 p.His244Asn Unclassified - - OR2M7 Q8NG81 VAR_053149 p.Val78Ala Polymorphism rs7555310 - OR2M7 Q8NG81 VAR_053150 p.Cys178Phe Polymorphism rs4916130 - OR2M7 Q8NG81 VAR_059992 p.Phe35Leu Polymorphism rs7555424 - OR2M7 Q8NG81 VAR_059993 p.Asp191Asn Polymorphism rs4916129 - OR2S2 Q9NQN1 VAR_059994 p.Arg17Gly Polymorphism rs2233558 - OR2S2 Q9NQN1 VAR_059995 p.Val30Met Polymorphism rs2233559 - OR2S2 Q9NQN1 VAR_059996 p.Pro89Ser Polymorphism rs2233560 - OR2S2 Q9NQN1 VAR_059997 p.Arg123His Polymorphism rs2233563 - OR2S2 Q9NQN1 VAR_059998 p.Met143Val Polymorphism rs2233564 - OR2S2 Q9NQN1 VAR_059999 p.Thr161Ala Polymorphism rs2233565 - OR2S2 Q9NQN1 VAR_060000 p.Val287Ala Polymorphism rs2233570 - OR2T11 Q8NH01 VAR_053155 p.Cys119Arg Polymorphism rs1892443 - OR2T11 Q8NH01 VAR_053156 p.Gln309Arg Polymorphism rs1892442 - OR2T12 Q8NG77 VAR_053157 p.Lys296Asn Polymorphism rs11204625 - OR2T12 Q8NG77 VAR_060003 p.Ala41Ser Polymorphism rs12135684 - OR2T12 Q8NG77 VAR_060004 p.Met69Val Polymorphism rs6678138 - OR2T12 Q8NG77 VAR_060005 p.Thr104Ser Polymorphism rs12137982 - OR2T12 Q8NG77 VAR_060006 p.Arg301Leu Polymorphism rs6667171 - OR2T1 O43869 VAR_057541 p.His25Arg Polymorphism rs28599722 - OR2T27 Q8NH04 VAR_053158 p.Leu36Val Polymorphism rs1782242 - OR2T27 Q8NH04 VAR_062030 p.Lys45Met Polymorphism rs28533004 - OR2T33 Q8NG76 VAR_053159 p.Ala169Val Polymorphism rs10888338 - OR2T3 Q8NH03 VAR_053151 p.Met204Thr Polymorphism rs1770110 - OR2T4 Q8NH00 VAR_062027 p.Asn31Ser Polymorphism rs57795102 - OR2T6 Q8NHC8 VAR_053152 p.Thr57Asn Polymorphism rs6693032 - OR2T6 Q8NHC8 VAR_053153 p.Leu159Pro Polymorphism rs6701129 - OR2T6 Q8NHC8 VAR_053154 p.Ser243Ala Polymorphism rs954475 - OR2T6 Q8NHC8 VAR_060001 p.Asn21Asp Polymorphism rs7417616 - OR2T6 Q8NHC8 VAR_060002 p.Cys23Gly Polymorphism rs6587467 - OR2T8 A6NH00 VAR_037342 p.Gly39Ser Polymorphism rs11204563 - OR2T8 A6NH00 VAR_037343 p.Trp49Arg Polymorphism rs11204564 - OR2T8 A6NH00 VAR_037344 p.Thr179Ala Polymorphism rs4584426 - OR2T8 A6NH00 VAR_037345 p.Met197Arg Polymorphism rs4474294 - OR2T8 A6NH00 VAR_037346 p.Ala221Ser Polymorphism rs4362017 - OR2T8 A6NH00 VAR_037347 p.Arg305Trp Polymorphism rs6695357 - OR2T8 A6NH00 VAR_062028 p.Val69Met Polymorphism rs28575687 - OR2T8 A6NH00 VAR_062029 p.Arg311His Polymorphism rs58882030 - OR2V2 Q96R30 VAR_053160 p.Ala34Val Polymorphism rs17617270 - OR2V2 Q96R30 VAR_053161 p.His221Arg Polymorphism rs2546423 - OR2W1 Q9Y3N9 VAR_010953 p.Met81Val Polymorphism rs34892006 - OR2W1 Q9Y3N9 VAR_010954 p.Asp296Asn Polymorphism rs35771565 - OR2W3 Q7Z3T1 VAR_034180 p.Cys169Ser Polymorphism rs12083024 - OR2W3 Q7Z3T1 VAR_034181 p.Arg179Cys Polymorphism rs10888267 - OR2W3 Q7Z3T1 VAR_034182 p.Val190Ile Polymorphism rs12135078 - OR2W3 Q7Z3T1 VAR_034183 p.Glu196Asp Polymorphism rs12139390 - OR2W3 Q7Z3T1 VAR_034184 p.Met272Lys Polymorphism rs11204545 - OR2W3 Q7Z3T1 VAR_034185 p.Met275Thr Polymorphism rs11204546 - OR2Y1 Q8NGV0 VAR_034186 p.Val200Leu Polymorphism rs10464105 - OR2Y1 Q8NGV0 VAR_053162 p.Arg128Cys Polymorphism rs11960429 - OR2Y1 Q8NGV0 VAR_053163 p.Val154Met Polymorphism rs11954074 - OR2Z1 Q8NG97 VAR_062031 p.Arg138Cys Polymorphism rs58741481 - OR3A1 P47881 VAR_012059 p.Arg125Gln Polymorphism rs703903 - OR3A1 P47881 VAR_057542 p.Ser78Gly Polymorphism rs16952828 - OR3A2 P47893 VAR_062032 p.Leu190Val Polymorphism rs9901356 - OR3A3 P47888 VAR_054961 p.Leu132Phe Polymorphism rs769432 - OR3A3 P47888 VAR_054962 p.Trp158Leu Polymorphism rs916039 - OR3A3 P47888 VAR_054963 p.Met287Val Polymorphism rs12939997 - OR3A3 P47888 VAR_054964 p.Lys317Glu Polymorphism rs227787 - OR3A4P P47883 VAR_060594 p.Ile42Val Polymorphism rs9905684 - OR3A4P P47883 VAR_060595 p.Ser86Arg Polymorphism rs9905086 - OR3A4P P47883 VAR_060596 p.Glu103Gln Polymorphism rs9903671 - OR3A4P P47883 VAR_060597 p.Ile120Val Polymorphism rs9906179 - OR3A4P P47883 VAR_060598 p.Pro168Thr Polymorphism rs9911226 - OR3A4P P47883 VAR_060599 p.Asn175Ser Polymorphism rs9912090 - OR3A4P P47883 VAR_060600 p.Tyr181His Polymorphism rs2855677 - OR3A4P P47883 VAR_060601 p.Ser193Ala Polymorphism rs231678 - OR3A4P P47883 VAR_060602 p.Arg237Lys Polymorphism rs231677 - OR3A4P P47883 VAR_060603 p.Val300Ile Polymorphism rs8076130 - OR4A15 Q8NGL6 VAR_055053 p.Pro26Ser Polymorphism rs1425193 - OR4A15 Q8NGL6 VAR_055054 p.Ala287Val Polymorphism rs7927370 - OR4A16 Q8NH70 VAR_034187 p.Leu188Ile Polymorphism rs11229158 - OR4A16 Q8NH70 VAR_034188 p.Lys303Met Polymorphism rs10896659 - OR4A16 Q8NH70 VAR_053164 p.His232Arg Polymorphism rs12807769 - OR4A47 Q6IF82 VAR_047759 p.Gly82Asp Polymorphism rs12805819 - OR4A47 Q6IF82 VAR_047760 p.Ile104Leu Polymorphism rs7103557 - OR4A47 Q6IF82 VAR_047761 p.Val145Met Polymorphism rs7103992 - OR4A47 Q6IF82 VAR_047762 p.Ala192Asp Polymorphism rs7103932 - OR4A5 Q8NH83 VAR_031741 p.Asn6Ser Polymorphism rs10902343 - OR4A5 Q8NH83 VAR_062033 p.Lys23Asn Polymorphism rs56302591 - OR4A5 Q8NH83 VAR_062034 p.Leu219Gln Polymorphism rs35083184 - OR4B1 Q8NGF8 VAR_034189 p.Cys63Tyr Polymorphism rs11606506 - OR4B1 Q8NGF8 VAR_034190 p.Thr237Asn Polymorphism rs12292056 - OR4C11 Q6IEV9 VAR_057543 p.Pro8Thr Polymorphism rs491160 - OR4C11 Q6IEV9 VAR_057544 p.Leu15Ile Polymorphism rs11230346 - OR4C11 Q6IEV9 VAR_057545 p.Thr277Pro Polymorphism rs2456022 - OR4C12 Q96R67 VAR_034192 p.Val283Leu Polymorphism rs4598671 - OR4C16 Q8NGL9 VAR_034193 p.Thr76Ala Polymorphism rs557590 - OR4C16 Q8NGL9 VAR_053165 p.Val25Leu Polymorphism rs12800642 - OR4C16 Q8NGL9 VAR_053166 p.Thr49Ala Polymorphism rs558465 - OR4C16 Q8NGL9 VAR_053167 p.Ala203Thr Polymorphism rs12288690 - OR4C16 Q8NGL9 VAR_053168 p.Leu259Pro Polymorphism rs559449 - OR4C46 A6NHA9 VAR_037045 p.Ser240Phe Polymorphism rs11246607 - OR4C46 A6NHA9 VAR_037046 p.Cys252Tyr Polymorphism rs11246608 - OR4C46 A6NHA9 VAR_037047 p.Lys288Arg Polymorphism rs11246609 - OR4C6 Q8NH72 VAR_034191 p.Ile133Thr Polymorphism rs11230600 - OR4D11 Q8NGI4 VAR_034197 p.Phe197Leu Polymorphism rs7120079 - OR4D1 Q15615 VAR_057546 p.Arg54Gln Polymorphism rs12602205 - OR4D1 Q15615 VAR_060479 p.Leu174Ile Polymorphism rs7218964 - OR4D2 P58180 VAR_062035 p.Leu29Ile Polymorphism rs60994383 - OR4D6 Q8NGJ1 VAR_024091 p.Asp96Gly Polymorphism rs1453543 - OR4D6 Q8NGJ1 VAR_024092 p.Ser151Thr Polymorphism rs1453542 - OR4D6 Q8NGJ1 VAR_024093 p.Met263Thr Polymorphism rs1453541 - OR4D6 Q8NGJ1 VAR_034194 p.Glu11Gln Polymorphism rs17153766 - OR4D6 Q8NGJ1 VAR_034195 p.Phe102Ser Polymorphism rs17153770 - OR4D6 Q8NGJ1 VAR_034196 p.Asp111Ala Polymorphism rs17500380 - OR4D6 Q8NGJ1 VAR_053169 p.Met59Val Polymorphism rs1453544 - OR4D9 Q8NGE8 VAR_053170 p.Gln159Arg Polymorphism rs17501584 - OR4E2 Q8NGC2 VAR_034198 p.Val118Met Polymorphism rs2874103 - OR4E2 Q8NGC2 VAR_034199 p.Gln234Arg Polymorphism rs970382 - OR4K13 Q8NH42 VAR_053172 p.Gln292Lys Polymorphism rs17277025 - OR4K14 Q8NGD5 VAR_053173 p.Met119Val Polymorphism rs7157076 - OR4K14 Q8NGD5 VAR_053174 p.Leu145Arg Polymorphism rs17308108 - OR4K15 Q8NH41 VAR_055060 p.Asn89Ser Polymorphism rs4060024 - OR4K15 Q8NH41 VAR_055061 p.Glu112Val Polymorphism rs3861512 - OR4K15 Q8NH41 VAR_055062 p.Ser117Ala Polymorphism rs3861513 - OR4K15 Q8NH41 VAR_055063 p.Ala255Glu Polymorphism rs10135246 - OR4K15 Q8NH41 VAR_055064 p.Leu304Pro Polymorphism rs2153466 - OR4K15 Q8NH41 VAR_055065 p.Ile310Met Polymorphism rs10135467 - OR4K1 Q8NGD4 VAR_054121 p.Arg89His Polymorphism rs12885778 - OR4K1 Q8NGD4 VAR_054122 p.Arg138Gln Polymorphism rs3916626 - OR4K1 Q8NGD4 VAR_054123 p.Arg304His Polymorphism rs2792146 - OR4K2 Q8NGD2 VAR_053171 p.Asn307Ile Polymorphism rs12883767 - OR4K5 Q8NGD3 VAR_034200 p.Arg319Lys Polymorphism rs17242341 - OR4L1 Q8NH43 VAR_024094 p.Arg52Ser Polymorphism rs1959630 - OR4L1 Q8NH43 VAR_034201 p.Asp2Asn Polymorphism rs1958715 - OR4L1 Q8NH43 VAR_034202 p.Met40Val Polymorphism rs1958716 - OR4L1 Q8NH43 VAR_034203 p.Ser93Phe Polymorphism rs10139756 - OR4L1 Q8NH43 VAR_034204 p.Met101Lys Polymorphism rs2775253 - OR4L1 Q8NH43 VAR_034205 p.Gly109Ser Polymorphism rs2775254 - OR4L1 Q8NH43 VAR_062036 p.Gly16Val Polymorphism rs45584133 - OR4L1 Q8NH43 VAR_062037 p.Ile160Thr Polymorphism rs45585336 - OR4M1 Q8NGD0 VAR_034206 p.Thr116Ile Polymorphism rs2635535 - OR4M1 Q8NGD0 VAR_048031 p.Gly232Asp Polymorphism rs2815960 - OR4M2 Q8NGB6 VAR_047831 p.Gly96Glu Polymorphism rs1835183 - OR4M2 Q8NGB6 VAR_047832 p.Asp121Asn Polymorphism rs11857531 - OR4M2 Q8NGB6 VAR_047833 p.Phe225Leu Polymorphism rs491208 - OR4M2 Q8NGB6 VAR_047834 p.Met239Val Polymorphism rs12593418 - OR4M2 Q8NGB6 VAR_047835 p.Arg284His Polymorphism rs4087943 - OR4N2 Q8NGD1 VAR_034207 p.Val135Leu Polymorphism rs17114261 - OR4N2 Q8NGD1 VAR_048032 p.Ile76Thr Polymorphism rs2801164 - OR4N2 Q8NGD1 VAR_048033 p.Pro133Ser Polymorphism rs2318279 - OR4N4 Q8N0Y3 VAR_048034 p.Leu61Phe Polymorphism rs535034 - OR4N4 Q8N0Y3 VAR_048035 p.Leu86Phe Polymorphism rs2808136 - OR4N4 Q8N0Y3 VAR_048036 p.Thr239Met Polymorphism rs475947 - OR4N4 Q8N0Y3 VAR_048037 p.Phe274Leu Polymorphism rs3817271 - OR4N5 Q8IXE1 VAR_024095 p.Asn191Asp Polymorphism rs10131326 - OR4N5 Q8IXE1 VAR_034208 p.Ser234Thr Polymorphism rs10140908 - OR4N5 Q8IXE1 VAR_034209 p.Cys260Arg Polymorphism rs10134472 - OR4N5 Q8IXE1 VAR_053175 p.Arg290His Polymorphism rs10141025 - OR4Q3 Q8NH05 VAR_053176 p.Thr135Ala Polymorphism rs17210864 - OR4Q3 Q8NH05 VAR_053177 p.Phe238Leu Polymorphism rs12896533 - OR4S2 Q8NH73 VAR_057547 p.Ser72Thr Polymorphism rs17146960 - OR4S2 Q8NH73 VAR_057548 p.Val195Gly Polymorphism rs7949664 - OR4X1 Q8NH49 VAR_034210 p.Pro165Leu Polymorphism rs16905753 - OR4X1 Q8NH49 VAR_034211 p.Asp246Asn Polymorphism rs17199104 - OR4X1 Q8NH49 VAR_034212 p.Pro282Ser Polymorphism rs10838852 - OR4X1 Q8NH49 VAR_053178 p.Arg144Gly Polymorphism rs1503193 - OR4X1 Q8NH49 VAR_053179 p.Leu196Gln Polymorphism rs12798361 - OR51A2 Q8NGJ7 VAR_024138 p.Gly59Glu Polymorphism rs1817206 - OR51A2 Q8NGJ7 VAR_024139 p.Met288Thr Polymorphism rs2442426 - OR51A2 Q8NGJ7 VAR_053305 p.Lys289Asn Polymorphism rs2570573 - OR51A2 Q8NGJ7 VAR_062075 p.Gly45Cys Polymorphism rs28482315 - OR51A4 Q8NGJ6 VAR_034313 p.Arg267Gly Polymorphism rs2595988 - OR51A4 Q8NGJ6 VAR_034314 p.Thr288Met Polymorphism rs2442426 - OR51A4 Q8NGJ6 VAR_053306 p.Asp72Asn Polymorphism rs2412467 - OR51A4 Q8NGJ6 VAR_062076 p.Gly45Cys Polymorphism rs3845246 - OR51A4 Q8NGJ6 VAR_062077 p.Arg311Trp Polymorphism rs2436782 - OR51A7 Q8NH64 VAR_024140 p.Glu8Lys Polymorphism rs11034596 - OR51A7 Q8NH64 VAR_034315 p.Met81Thr Polymorphism rs7108225 - OR51A7 Q8NH64 VAR_034316 p.Val196Ala Polymorphism rs7108654 - OR51B2 Q9Y5P1 VAR_057576 p.Pro283Ser Polymorphism rs11036815 - OR51B2 Q9Y5P1 VAR_063114 p.Cys120Arg Polymorphism rs7952293 - OR51B2 Q9Y5P1 VAR_063115 p.Leu134Phe Polymorphism rs10837814 - OR51B2 Q9Y5P1 VAR_063116 p.Cys209Ser Polymorphism rs7937237 - OR51B2 Q9Y5P1 VAR_063117 p.Ser312Arg Polymorphism rs11036814 - OR51B4 Q9Y5P0 VAR_024141 p.Val36Ile Polymorphism rs7118113 - OR51B4 Q9Y5P0 VAR_030348 p.Met147Thr Polymorphism rs10837771 - OR51B5 Q9H339 VAR_053307 p.Gly5Ser Polymorphism rs11036913 - OR51B5 Q9H339 VAR_053308 p.Ile102Thr Polymorphism rs11036912 - OR51B5 Q9H339 VAR_053309 p.Val154Ile Polymorphism rs12273630 - OR51B5 Q9H339 VAR_053310 p.Pro160Leu Polymorphism rs4910551 - OR51B5 Q9H339 VAR_053311 p.Leu220Phe Polymorphism rs7120319 - OR51B5 Q9H339 VAR_062078 p.Thr78Lys Polymorphism rs57273781 - OR51B5 Q9H339 VAR_062079 p.Arg88Gly Polymorphism rs57900141 - OR51B6 Q9H340 VAR_053312 p.Lys5Thr Polymorphism rs4910755 - OR51B6 Q9H340 VAR_053313 p.Asn40Ser Polymorphism rs4910756 - OR51B6 Q9H340 VAR_053314 p.Ile90Thr Polymorphism rs7483122 - OR51B6 Q9H340 VAR_053315 p.Thr123Ala Polymorphism rs5006889 - OR51B6 Q9H340 VAR_053316 p.Thr131Ile Polymorphism rs5006887 - OR51B6 Q9H340 VAR_053317 p.Arg145Gly Polymorphism rs5006886 - OR51B6 Q9H340 VAR_053318 p.Ser169Ala Polymorphism rs5006885 - OR51B6 Q9H340 VAR_053319 p.Leu172Phe Polymorphism rs5006884 - OR51B6 Q9H340 VAR_053320 p.Phe192Leu Polymorphism rs5006883 - OR51B6 Q9H340 VAR_053321 p.Val254Leu Polymorphism rs7106330 - OR51B6 Q9H340 VAR_053322 p.Ser275Arg Polymorphism rs5024042 - OR51B6 Q9H340 VAR_060035 p.Arg125His Polymorphism rs7479477 - OR51B6 Q9H340 VAR_060036 p.Ser126Asn Polymorphism rs5006888 - OR51D1 Q8NGF3 VAR_053323 p.Ile89Val Polymorphism rs905871 - OR51E1 Q8TCB6 VAR_034317 p.Ser10Asn Polymorphism rs17224476 - OR51E1 Q8TCB6 VAR_057577 p.Ser9Asn Polymorphism rs17224476 - OR51F1 A6NGY5 VAR_037506 p.Thr20Ala Polymorphism rs17324812 - OR51F1 A6NGY5 VAR_037507 p.Phe73Ser Polymorphism rs11033801 - OR51F1 A6NGY5 VAR_037508 p.Arg74Met Polymorphism rs11033800 - OR51F1 A6NGY5 VAR_037509 p.His232Arg Polymorphism rs11033793 - OR51F1 A6NGY5 VAR_037510 p.Asp301Tyr Polymorphism rs1030726 - OR51F1 A6NGY5 VAR_057578 p.Arg202Gln Polymorphism rs16938368 - OR51F1 A6NGY5 VAR_057579 p.Ala258Val Polymorphism rs17324609 - OR51F1 A6NGY5 VAR_060037 p.Ser233Phe Polymorphism rs1030723 - OR51G1 Q8NGK1 VAR_034318 p.Tyr125Ser Polymorphism rs1378739 - OR51G1 Q8NGK1 VAR_053324 p.Ser114Leu Polymorphism rs10836954 - OR51G1 Q8NGK1 VAR_053325 p.Arg124His Polymorphism rs34742470 - OR51G1 Q8NGK1 VAR_053326 p.Ile195Thr Polymorphism rs12796015 - OR51G1 Q8NGK1 VAR_062080 p.Gln303His Polymorphism rs57920748 - OR51G2 Q8NGK0 VAR_034319 p.Glu96Gln Polymorphism rs12419598 - OR51G2 Q8NGK0 VAR_053327 p.Ala94Glu Polymorphism rs16907312 - OR51I1 Q9H343 VAR_024142 p.Ala252Ser Polymorphism rs1498486 - OR51I1 Q9H343 VAR_034320 p.Val164Leu Polymorphism rs11037445 - OR51I1 Q9H343 VAR_053328 p.Arg124His Polymorphism rs16930982 - OR51I2 Q9H344 VAR_024143 p.Arg263His Polymorphism rs11037502 - OR51I2 Q9H344 VAR_034321 p.Arg122Cys Polymorphism rs10450603 - OR51I2 Q9H344 VAR_034322 p.Thr134Ala Polymorphism rs12577167 - OR51I2 Q9H344 VAR_034323 p.Arg151Pro Polymorphism rs16931292 - OR51J1 Q9H342 VAR_044085 p.Cys100Tyr Polymorphism - - OR51L1 Q8NGJ5 VAR_034324 p.Thr196Ile Polymorphism rs10768448 - OR51L1 Q8NGJ5 VAR_034325 p.Ala207Val Polymorphism rs10768450 - OR51Q1 Q8NH59 VAR_024144 p.Val211Met Polymorphism rs2736586 - OR51Q1 Q8NH59 VAR_034326 p.Thr146Ile Polymorphism rs10838092 - OR51Q1 Q8NH59 VAR_034327 p.Cys153Arg Polymorphism rs10838093 - OR51Q1 Q8NH59 VAR_034328 p.Arg178His Polymorphism rs10838095 - OR51Q1 Q8NH59 VAR_053329 p.Val155Ile Polymorphism rs10838094 - OR51Q1 Q8NH59 VAR_053330 p.Phe308Ser Polymorphism rs2647573 - OR51S1 Q8NGJ8 VAR_024145 p.Leu178Arg Polymorphism rs7117260 - OR51S1 Q8NGJ8 VAR_034329 p.Ile57Asn Polymorphism rs12417164 - OR51S1 Q8NGJ8 VAR_034330 p.Gln60Glu Polymorphism rs11602499 - OR51S1 Q8NGJ8 VAR_053331 p.Leu264Phe Polymorphism rs12361955 - OR51V1 Q9H2C8 VAR_057580 p.Ser233Leu Polymorphism rs7933549 - OR52A4 A6NMU1 VAR_037540 p.Asp87Gly Polymorphism rs7947334 - OR52A4 A6NMU1 VAR_037541 p.Tyr180Ser Polymorphism rs10837375 - OR52A4 A6NMU1 VAR_037542 p.Cys277Arg Polymorphism rs4426129 - OR52A4 A6NMU1 VAR_062081 p.Thr303Ala Polymorphism rs10837374 - OR52B2 Q96RD2 VAR_054126 p.Phe105Tyr Polymorphism rs16909422 - OR52B4 Q8NGK2 VAR_037834 p.Thr139Ile Polymorphism rs11031961 - OR52B6 Q8NGF0 VAR_048077 p.Thr57Ala Polymorphism rs1077126 - OR52B6 Q8NGF0 VAR_048078 p.Leu111His Polymorphism rs2341432 - OR52B6 Q8NGF0 VAR_048079 p.Ala167Thr Polymorphism rs2341433 - OR52B6 Q8NGF0 VAR_048080 p.His170Arg Polymorphism rs2341434 - OR52B6 Q8NGF0 VAR_048081 p.Val288Ile Polymorphism rs10769086 - OR52D1 Q9H346 VAR_024146 p.Ile251Thr Polymorphism rs7101919 - OR52D1 Q9H346 VAR_034331 p.Arg154Cys Polymorphism rs7935144 - OR52D1 Q9H346 VAR_034332 p.Asp213Glu Polymorphism rs7924754 - OR52D1 Q9H346 VAR_034333 p.Tyr221Phe Polymorphism rs7950082 - OR52D1 Q9H346 VAR_034334 p.Arg304Trp Polymorphism rs11037758 - OR52E2 Q8NGJ4 VAR_053332 p.Asn5Ser Polymorphism rs16909440 - OR52E2 Q8NGJ4 VAR_053333 p.Arg167Trp Polymorphism rs11035396 - OR52E2 Q8NGJ4 VAR_053334 p.Arg264Cys Polymorphism rs2500052 - OR52E4 Q8NGH9 VAR_024147 p.Val176Ile Polymorphism rs4758168 - OR52E4 Q8NGH9 VAR_024148 p.Arg184Met Polymorphism rs4757986 - OR52E4 Q8NGH9 VAR_034335 p.Phe49Leu Polymorphism rs16914094 - OR52E4 Q8NGH9 VAR_034336 p.Arg228His Polymorphism rs4757987 - OR52E4 Q8NGH9 VAR_034337 p.Phe257Leu Polymorphism rs11823842 - OR52E4 Q8NGH9 VAR_062082 p.Phe227Leu Polymorphism rs11823828 - OR52E5 Q8NH55 VAR_034338 p.Thr165Ile Polymorphism rs17234326 - OR52E5 Q8NH55 VAR_034339 p.Asp209Gly Polymorphism rs16926732 - OR52E5 Q8NH55 VAR_034340 p.Leu234Pro Polymorphism rs7106300 - OR52E5 Q8NH55 VAR_034341 p.Glu309Lys Polymorphism rs4601752 - OR52E6 Q96RD3 VAR_048066 p.Ile39Val Polymorphism rs4362173 - OR52E6 Q96RD3 VAR_048067 p.Phe48Leu Polymorphism rs10769272 - OR52E6 Q96RD3 VAR_048068 p.Cys64Phe Polymorphism rs4495918 - OR52E6 Q96RD3 VAR_048069 p.Ser95Pro Polymorphism rs4592451 - OR52E6 Q96RD3 VAR_048070 p.Trp133Arg Polymorphism rs10838719 - OR52E6 Q96RD3 VAR_048071 p.Ile159Val Polymorphism rs4357719 - OR52E6 Q96RD3 VAR_048072 p.Phe170Tyr Polymorphism rs7943698 - OR52E6 Q96RD3 VAR_048073 p.Met199Arg Polymorphism rs10742809 - OR52H1 Q8NGJ2 VAR_054361 p.Val47Ile Polymorphism rs2254076 - OR52H1 Q8NGJ2 VAR_054362 p.Ala89Thr Polymorphism rs10769054 - OR52H1 Q8NGJ2 VAR_054363 p.His130Arg Polymorphism rs1566275 - OR52H1 Q8NGJ2 VAR_054364 p.Gly235Cys Polymorphism rs1995157 - OR52H1 Q8NGJ2 VAR_054365 p.Cys242Arg Polymorphism rs1995158 - OR52H1 Q8NGJ2 VAR_054366 p.Met283Thr Polymorphism rs7934354 - OR52H1 Q8NGJ2 VAR_062083 p.Val45Ala Polymorphism rs56291963 - OR52I1 Q8NGK6 VAR_034342 p.Thr41Ile Polymorphism rs2010722 - OR52I2 Q8NH67 VAR_048082 p.Leu25Pro Polymorphism rs7128702 - OR52I2 Q8NH67 VAR_048083 p.Ile74Leu Polymorphism rs12793957 - OR52I2 Q8NH67 VAR_048084 p.Thr167Met Polymorphism rs1847632 - OR52I2 Q8NH67 VAR_048085 p.Ile178Val Polymorphism rs7947426 - OR52I2 Q8NH67 VAR_048086 p.Ile183Val Polymorphism rs7947432 - OR52J3 Q8NH60 VAR_034343 p.Thr77Ala Polymorphism rs2500016 - OR52J3 Q8NH60 VAR_034344 p.Val128Ile Polymorphism rs2500017 - OR52J3 Q8NH60 VAR_034345 p.Gln141Leu Polymorphism rs2500018 - OR52J3 Q8NH60 VAR_034346 p.Val226Ile Polymorphism rs17350764 - OR52K1 Q8NGK4 VAR_060038 p.Gln52Arg Polymorphism rs96489 - OR52K1 Q8NGK4 VAR_060039 p.Arg153Trp Polymorphism rs331510 - OR52K2 Q8NGK3 VAR_034347 p.Arg124Cys Polymorphism rs11032296 - OR52K2 Q8NGK3 VAR_034348 p.Arg302Cys Polymorphism rs7934336 - OR52K2 Q8NGK3 VAR_047827 p.Arg236His Polymorphism rs331537 - OR52L1 Q8NGH7 VAR_055078 p.Asp88Asn Polymorphism rs4501959 - OR52L1 Q8NGH7 VAR_055079 p.Cys140Arg Polymorphism rs4436525 - OR52L1 Q8NGH7 VAR_055080 p.Cys161Arg Polymorphism rs4436524 - OR52L1 Q8NGH7 VAR_055081 p.Lys183Thr Polymorphism rs4354673 - OR52L1 Q8NGH7 VAR_055082 p.Trp297Arg Polymorphism rs4237768 - OR52M1 Q8NGK5 VAR_034349 p.Ser9Leu Polymorphism rs7112010 - OR52M1 Q8NGK5 VAR_034350 p.Ser305Arg Polymorphism rs2657167 - OR52N1 Q8NH53 VAR_024149 p.Arg167Cys Polymorphism rs7948009 - OR52N1 Q8NH53 VAR_034351 p.Phe247Ile Polymorphism rs7934670 - OR52N1 Q8NH53 VAR_053335 p.Thr79Asn Polymorphism rs12365487 - OR52N1 Q8NH53 VAR_053336 p.Ala101Thr Polymorphism rs10742787 - OR52N1 Q8NH53 VAR_053337 p.Cys125Tyr Polymorphism rs10769224 - OR52N2 Q8NGI0 VAR_024150 p.Ser249Ala Polymorphism rs8181529 - OR52N2 Q8NGI0 VAR_024151 p.His264Arg Polymorphism rs8181512 - OR52N4 Q8NGI2 VAR_034352 p.Thr106Ile Polymorphism rs7936512 - OR52N4 Q8NGI2 VAR_034353 p.Asn218Ile Polymorphism rs7396938 - OR52N4 Q8NGI2 VAR_053338 p.Leu167Arg Polymorphism rs7394584 - OR52N4 Q8NGI2 VAR_053339 p.Trp209Gly Polymorphism rs12363178 - OR52N5 Q8NH56 VAR_047147 p.Val133Ile Polymorphism rs12360738 - OR52R1 Q8NGF1 VAR_059061 p.Phe88Leu Polymorphism rs17327254 - OR52R1 Q8NGF1 VAR_059062 p.Ile129Thr Polymorphism rs7941731 - OR52R1 Q8NGF1 VAR_059063 p.Asn201Tyr Polymorphism rs6578533 - OR52R1 Q8NGF1 VAR_059064 p.Ser245Ala Polymorphism rs2053116 - OR52W1 Q6IF63 VAR_044514 p.His239Arg Polymorphism rs10839531 - OR52W1 Q6IF63 VAR_044515 p.Leu254Gln Polymorphism rs11040799 - OR52W1 Q6IF63 VAR_044516 p.Thr266Ala Polymorphism rs325609 - OR56A3 Q8NH54 VAR_024152 p.Met51Thr Polymorphism rs1840178 - OR56B1 Q8NGI3 VAR_055055 p.Cys106Arg Polymorphism rs7397032 - OR56B4 Q8NH76 VAR_024153 p.Pro277Ser Polymorphism rs1462983 - OR5A1 Q8NGJ0 VAR_024096 p.Asp183Asn Polymorphism rs6591536 - OR5A1 Q8NGJ0 VAR_034213 p.Ile52Val Polymorphism rs17153732 - OR5A2 Q8NGI9 VAR_024097 p.Pro172Leu Polymorphism rs1453547 - OR5A2 Q8NGI9 VAR_048045 p.Phe103Leu Polymorphism rs17153691 - OR5AC2 Q9NZP5 VAR_034214 p.Met200Ile Polymorphism rs4518168 - OR5AK2 Q8NH90 VAR_034215 p.Gly4Val Polymorphism rs10896563 - OR5AK2 Q8NH90 VAR_034216 p.Met92Ile Polymorphism rs2853083 - OR5AK2 Q8NH90 VAR_060007 p.Ser43Thr Polymorphism rs12420424 - OR5AN1 Q8NGI8 VAR_024098 p.Leu289Phe Polymorphism rs7941190 - OR5AP2 Q8NGF4 VAR_053180 p.Ala105Thr Polymorphism rs11606499 - OR5AR1 Q8NGP9 VAR_062038 p.Ile225Val Polymorphism rs56067375 - OR5AS1 Q8N127 VAR_034217 p.Arg122Leu Polymorphism rs12224086 - OR5AS1 Q8N127 VAR_034218 p.Tyr310Cys Polymorphism rs17600939 - OR5AU1 Q8NGC0 VAR_047234 p.Val80Met Polymorphism rs17102042 - OR5AU1 Q8NGC0 VAR_047235 p.Leu117Phe Polymorphism rs4982419 - OR5AU1 Q8NGC0 VAR_047236 p.Ile299Val Polymorphism rs7145814 - OR5AU1 Q8NGC0 VAR_062039 p.Ser194Leu Polymorphism rs59120409 - OR5AU1 Q8NGC0 VAR_062040 p.Asn274Lys Polymorphism rs57985939 - OR5B12 Q96R08 VAR_053191 p.Cys141Arg Polymorphism rs4938895 - OR5B12 Q96R08 VAR_053192 p.Cys141Tyr Polymorphism rs11229457 - OR5B17 Q8NGF7 VAR_034219 p.Leu80Ile Polymorphism rs4939208 - OR5B17 Q8NGF7 VAR_053193 p.Tyr308Cys Polymorphism rs4127353 - OR5B21 A6NL26 VAR_062041 p.Ser272Tyr Polymorphism rs58454093 - OR5B2 Q96R09 VAR_053181 p.Met200Thr Polymorphism rs4298923 - OR5B2 Q96R09 VAR_053182 p.Val208Ala Polymorphism rs10466659 - OR5B3 Q8NH48 VAR_053183 p.Pro30Leu Polymorphism rs17152661 - OR5B3 Q8NH48 VAR_053184 p.Ile35Phe Polymorphism rs17152659 - OR5B3 Q8NH48 VAR_053185 p.Trp49Arg Polymorphism rs11229413 - OR5B3 Q8NH48 VAR_053186 p.Asn170Ser Polymorphism rs12280114 - OR5B3 Q8NH48 VAR_053187 p.Ala181Thr Polymorphism rs11229411 - OR5B3 Q8NH48 VAR_053188 p.Ile198Val Polymorphism rs11229410 - OR5B3 Q8NH48 VAR_053189 p.Gly247Ala Polymorphism rs11229409 - OR5B3 Q8NH48 VAR_053190 p.Lys296Arg Polymorphism rs12279895 - OR5D13 Q8NGL4 VAR_024099 p.Cys62Tyr Polymorphism rs297118 - OR5D13 Q8NGL4 VAR_024100 p.Arg124His Polymorphism rs11230983 - OR5D13 Q8NGL4 VAR_034220 p.Arg236Leu Polymorphism rs7124871 - OR5D14 Q8NGL3 VAR_034221 p.Ser249Ala Polymorphism rs297054 - OR5D14 Q8NGL3 VAR_034222 p.Leu290Pro Polymorphism rs297055 - OR5D16 Q8NGK9 VAR_034223 p.Ala156Thr Polymorphism rs6591700 - OR5D18 Q8NGL1 VAR_034224 p.Val118Met Polymorphism rs11231180 - OR5D18 Q8NGL1 VAR_048046 p.Tyr36Cys Polymorphism rs7948629 - OR5D18 Q8NGL1 VAR_048047 p.Asn136Asp Polymorphism rs297081 - OR5D18 Q8NGL1 VAR_062042 p.His270Arg Polymorphism rs55832853 - OR5F1 O95221 VAR_034225 p.Ser294Asn Polymorphism rs2449134 - OR5F1 O95221 VAR_053194 p.Tyr278His Polymorphism rs11825964 - OR5F1 O95221 VAR_062043 p.Thr192Ala Polymorphism rs35607186 - OR5H14 A6NHG9 VAR_037393 p.Gly64Arg Polymorphism rs4241468 - OR5H14 A6NHG9 VAR_037394 p.Tyr189Cys Polymorphism rs4857076 - OR5H15 A6NDH6 VAR_037027 p.Val108Ile Polymorphism rs4133320 - OR5H15 A6NDH6 VAR_037028 p.Ser148Thr Polymorphism rs4133321 - OR5H15 A6NDH6 VAR_037029 p.Thr167Ser Polymorphism rs4133322 - OR5H1 A6NKK0 VAR_037089 p.Ser148Thr Polymorphism rs5009896 - OR5H1 A6NKK0 VAR_037090 p.Val150Ile Polymorphism rs5009895 - OR5H1 A6NKK0 VAR_037091 p.Ile153Leu Polymorphism rs9845327 - OR5H1 A6NKK0 VAR_037092 p.Thr181Ile Polymorphism rs9826076 - OR5H1 A6NKK0 VAR_037093 p.Ser230Thr Polymorphism rs9849637 - OR5H2 Q8NGV7 VAR_053195 p.Ile230Val Polymorphism rs16839214 - OR5H2 Q8NGV7 VAR_053196 p.Arg266Cys Polymorphism rs17787561 - OR5H2 Q8NGV7 VAR_053197 p.Ile286Val Polymorphism rs16839611 - OR5H6 Q8NGV6 VAR_054343 p.Ala46Glu Polymorphism rs4241472 - OR5H6 Q8NGV6 VAR_054344 p.Ala145Pro Polymorphism rs9289564 - OR5H6 Q8NGV6 VAR_054345 p.Ser179Leu Polymorphism rs16846784 - OR5H6 Q8NGV6 VAR_054346 p.Cys195Arg Polymorphism rs9853887 - OR5H6 Q8NGV6 VAR_054347 p.Thr272Ala Polymorphism rs9853906 - OR5H6 Q8NGV6 VAR_054348 p.Asp285Asn Polymorphism rs9871143 - OR5H6 Q8NGV6 VAR_060008 p.Ser88Leu Polymorphism rs2173236 - OR5H6 Q8NGV6 VAR_060009 p.Ser88Trp Polymorphism rs2173236 - OR5I1 Q13606 VAR_024101 p.Phe76Ser Polymorphism rs9666086 - OR5I1 Q13606 VAR_053198 p.Arg6Gly Polymorphism rs17597625 - OR5I1 Q13606 VAR_053199 p.Leu50Ser Polymorphism rs4367963 - OR5I1 Q13606 VAR_053200 p.Val306Ile Polymorphism rs9665861 - OR5J2 Q8NH18 VAR_034226 p.Met136Ile Polymorphism rs12279899 - OR5K3 A6NET4 VAR_037044 p.Gly44Asp Polymorphism rs13068323 - OR5K4 A6NMS3 VAR_037448 p.Ile206Val Polymorphism rs9822460 - OR5L1 Q8NGL2 VAR_034227 p.Ile46Phe Polymorphism rs2869020 - OR5L1 Q8NGL2 VAR_034228 p.Ser287Pro Polymorphism rs12790505 - OR5L1 Q8NGL2 VAR_062044 p.Arg54Trp Polymorphism rs34961497 - OR5L2 Q8NGL0 VAR_034229 p.Met81Arg Polymorphism rs17148058 - OR5L2 Q8NGL0 VAR_062045 p.Val59Met Polymorphism rs56711116 - OR5M10 Q6IEU7 VAR_053201 p.Val69Leu Polymorphism rs10792043 - OR5M10 Q6IEU7 VAR_053202 p.Ile313Thr Polymorphism rs10896488 - OR5M11 Q96RB7 VAR_034231 p.Ser171Asn Polymorphism rs628524 - OR5M11 Q96RB7 VAR_034232 p.Val280Leu Polymorphism rs17547207 - OR5M1 Q8NGP8 VAR_060010 p.Ser282Thr Polymorphism rs4939078 - OR5M3 Q8NGP4 VAR_057549 p.Leu84Phe Polymorphism rs605734 - OR5M3 Q8NGP4 VAR_057550 p.Gly163Ser Polymorphism rs17150664 - OR5M9 Q8NGP3 VAR_034230 p.Lys270Arg Polymorphism rs1945237 - OR5P2 Q8WZ92 VAR_053203 p.Gly7Arg Polymorphism rs1482804 - OR5P2 Q8WZ92 VAR_053204 p.Asn318Asp Polymorphism rs7949771 - OR5P3 Q8WZ94 VAR_048048 p.Thr158Lys Polymorphism rs16932503 - OR5P3 Q8WZ94 VAR_048094 p.Phe251Leu Polymorphism rs364427 - OR5R1 Q8NH85 VAR_024102 p.Ile7Thr Polymorphism rs7931261 - OR5R1 Q8NH85 VAR_024103 p.Cys122Arg Polymorphism rs6591324 - OR5R1 Q8NH85 VAR_024104 p.Phe184Leu Polymorphism rs7930678 - OR5R1 Q8NH85 VAR_024105 p.Ala274Val Polymorphism rs998544 - OR5R1 Q8NH85 VAR_053205 p.Cys103Tyr Polymorphism rs7123108 - OR5R1 Q8NH85 VAR_053206 p.Asp121Gly Polymorphism rs7111634 - OR5R1 Q8NH85 VAR_053207 p.Ser128Gly Polymorphism rs7933772 - OR5R1 Q8NH85 VAR_053208 p.Tyr132His Polymorphism rs17150578 - OR5R1 Q8NH85 VAR_053209 p.Ile162Thr Polymorphism rs12785840 - OR5T1 Q8NG75 VAR_034233 p.Ser164Gly Polymorphism rs12360890 - OR5T1 Q8NG75 VAR_053210 p.Pro60Leu Polymorphism rs7126079 - OR5T2 Q8NGG2 VAR_054349 p.Ser21Tyr Polymorphism rs3919907 - OR5T2 Q8NGG2 VAR_054350 p.Thr64Ile Polymorphism rs11227599 - OR5T2 Q8NGG2 VAR_054351 p.Val87Leu Polymorphism rs10791893 - OR5T2 Q8NGG2 VAR_054352 p.Thr125Met Polymorphism rs7122514 - OR5T2 Q8NGG2 VAR_054353 p.Leu238Val Polymorphism rs12221615 - OR5T2 Q8NGG2 VAR_054354 p.His309Asp Polymorphism rs7121880 - OR5T3 Q8NGG3 VAR_047836 p.Trp84Gly Polymorphism rs17150243 - OR5V1 Q9UGF6 VAR_053211 p.Leu23Trp Polymorphism rs6930033 - OR5V1 Q9UGF6 VAR_053212 p.Ile45Met Polymorphism rs9257770 - OR5V1 Q9UGF6 VAR_064740 p.Leu136Pro Unclassified - - OR5W2 Q8NH69 VAR_034236 p.Ala163Pro Polymorphism rs17148883 - OR5W2 Q8NH69 VAR_034237 p.Arg189Cys Polymorphism rs2457239 - OR5W2 Q8NH69 VAR_053213 p.Phe39Leu Polymorphism rs17511797 - OR5W2 Q8NH69 VAR_053214 p.His65Arg Polymorphism rs12419022 - OR5W2 Q8NH69 VAR_053215 p.Met160Thr Polymorphism rs17596519 - OR5W2 Q8NH69 VAR_053216 p.Phe215Leu Polymorphism rs17596422 - OR5W2 Q8NH69 VAR_062046 p.Phe310Tyr Polymorphism rs34573569 - OR6A2 O95222 VAR_053217 p.Ala22Val Polymorphism rs7122644 - OR6B1 O95007 VAR_034238 p.Arg143Cys Polymorphism rs7787378 - OR6B2 Q6IFH4 VAR_062047 p.Cys179Arg Polymorphism rs10187574 - OR6B2 Q6IFH4 VAR_062048 p.Arg227Cys Polymorphism rs60841887 - OR6B3 Q8NGW1 VAR_062049 p.Cys234Tyr Polymorphism rs12465491 - OR6C1 Q96RD1 VAR_034239 p.Cys130Tyr Polymorphism rs7132431 - OR6C1 Q96RD1 VAR_034240 p.His165Asp Polymorphism rs7132347 - OR6C1 Q96RD1 VAR_034241 p.Thr222Ile Polymorphism rs7132600 - OR6C1 Q96RD1 VAR_034242 p.Val246Ile Polymorphism rs7132916 - OR6C2 Q9NZP2 VAR_034243 p.Pro181Ala Polymorphism rs11171466 - OR6C2 Q9NZP2 VAR_034244 p.Leu209Pro Polymorphism rs11171467 - OR6C3 Q9NZP0 VAR_034245 p.Ala234Ser Polymorphism rs11832940 - OR6C3 Q9NZP0 VAR_053218 p.Ser69Leu Polymorphism rs4318060 - OR6C3 Q9NZP0 VAR_053219 p.Met133Thr Polymorphism rs11835321 - OR6C4 Q8NGE1 VAR_034246 p.Ile37Val Polymorphism rs7313899 - OR6C4 Q8NGE1 VAR_053220 p.Met83Thr Polymorphism rs11835716 - OR6C65 A6NJZ3 VAR_037049 p.Leu13Gln Polymorphism rs12424958 - OR6C65 A6NJZ3 VAR_037050 p.Thr222Ala Polymorphism rs7971073 - OR6C6 A6NF89 VAR_037048 p.Thr190Ile Polymorphism rs11171402 - OR6C70 A6NIJ9 VAR_036971 p.Leu181Pro Polymorphism rs10747756 - OR6C70 A6NIJ9 VAR_062050 p.Lys233Asn Polymorphism rs60683621 - OR6C74 A6NCV1 VAR_036981 p.Arg2Gly Polymorphism rs7301705 - OR6C74 A6NCV1 VAR_036982 p.Leu61Phe Polymorphism rs11171388 - OR6C74 A6NCV1 VAR_036983 p.Tyr75Cys Polymorphism rs4388990 - OR6C74 A6NCV1 VAR_036984 p.Gly86Asp Polymorphism rs6581025 - OR6C74 A6NCV1 VAR_036985 p.Arg120Cys Polymorphism rs4321039 - OR6C75 A6NL08 VAR_036972 p.Leu141Phe Polymorphism rs7976023 - OR6C75 A6NL08 VAR_036973 p.Ala235Asp Polymorphism rs7976416 - OR6F1 Q8NGZ6 VAR_034247 p.Phe215Leu Polymorphism rs2282316 - OR6F1 Q8NGZ6 VAR_053221 p.Pro159Ala Polymorphism rs6665599 - OR6F1 Q8NGZ6 VAR_062051 p.Leu13Pro Polymorphism rs60303431 - OR6K2 Q8NGY2 VAR_034248 p.Arg6Gln Polymorphism rs413029 - OR6K2 Q8NGY2 VAR_034249 p.Leu156Val Polymorphism rs423141 - OR6K2 Q8NGY2 VAR_034250 p.Ile159Phe Polymorphism rs6686179 - OR6K3 Q8NGY3 VAR_055066 p.Gly20Arg Polymorphism rs857705 - OR6K3 Q8NGY3 VAR_055067 p.Pro244Ser Polymorphism rs857703 - OR6K3 Q8NGY3 VAR_055068 p.Pro264Leu Polymorphism rs28568406 - OR6K3 Q8NGY3 VAR_055069 p.Arg308Lys Polymorphism rs16840675 - OR6K3 Q8NGY3 VAR_062052 p.Gln159His Polymorphism rs857704 - OR6K3 Q8NGY3 VAR_062053 p.Asp279Asn Polymorphism rs857702 - OR6K3 Q8NGY3 VAR_064741 p.Val216Met Unclassified - - OR6K6 Q8NGW6 VAR_057551 p.Glu39Asp Polymorphism rs16840974 - OR6K6 Q8NGW6 VAR_057552 p.His49Tyr Polymorphism rs16840976 - OR6K6 Q8NGW6 VAR_057553 p.Gly80Asp Polymorphism rs16840980 - OR6K6 Q8NGW6 VAR_057554 p.Ser134Leu Polymorphism rs16840991 - OR6K6 Q8NGW6 VAR_057555 p.Arg159Cys Polymorphism rs16841001 - OR6K6 Q8NGW6 VAR_057556 p.Cys197Arg Polymorphism rs16841009 - OR6K6 Q8NGW6 VAR_057557 p.Pro211Leu Polymorphism rs16841017 - OR6K6 Q8NGW6 VAR_057558 p.Arg247Gln Polymorphism rs16841038 - OR6K6 Q8NGW6 VAR_057559 p.His261Arg Polymorphism rs16841042 - OR6K6 Q8NGW6 VAR_057560 p.Lys320Arg Polymorphism rs16841045 - OR6M1 Q8NGM8 VAR_053222 p.Thr276Lys Polymorphism rs4936845 - OR6N1 Q8NGY5 VAR_024106 p.Ala10Thr Polymorphism rs1864346 - OR6N1 Q8NGY5 VAR_024107 p.Ile194Thr Polymorphism rs857827 - OR6N1 Q8NGY5 VAR_024108 p.Gln261Arg Polymorphism rs857825 - OR6N1 Q8NGY5 VAR_024109 p.Arg293His Polymorphism rs857824 - OR6N1 Q8NGY5 VAR_053223 p.Phe245Leu Polymorphism rs857826 - OR6N2 Q8NGY6 VAR_053224 p.Ala204Val Polymorphism rs12027473 - OR6N2 Q8NGY6 VAR_062054 p.Ile250Val Polymorphism rs41273541 - OR6Q1 Q8NGQ2 VAR_057561 p.Gly316Ala Polymorphism rs1374570 - OR6Q1 Q8NGQ2 VAR_064742 p.Phe172Ile Unclassified - - OR6S1 Q8NH40 VAR_057562 p.Thr42Ile Polymorphism rs11622794 - OR6S1 Q8NH40 VAR_057563 p.Val156Ile Polymorphism rs11622969 - OR6S1 Q8NH40 VAR_057564 p.Arg237His Polymorphism rs17277522 - OR6S1 Q8NH40 VAR_057565 p.Arg296Cys Polymorphism rs17114309 - OR6T1 Q8NGN1 VAR_048049 p.Ile23Thr Polymorphism rs6590022 - OR6T1 Q8NGN1 VAR_048050 p.Arg64Trp Polymorphism rs6590021 - OR6T1 Q8NGN1 VAR_048051 p.Ile251Val Polymorphism rs7937317 - OR6V1 Q8N148 VAR_034251 p.Ser237Phe Polymorphism rs10245778 - OR6V1 Q8N148 VAR_034252 p.Arg269Lys Polymorphism rs7791886 - OR6V1 Q8N148 VAR_034253 p.Val295Ala Polymorphism rs7779316 - OR6X1 Q8NH79 VAR_024110 p.Thr190Asn Polymorphism rs12364099 - OR6Y1 Q8NGX8 VAR_062055 p.Thr104Ile Polymorphism rs55665765 - OR7A10 O76100 VAR_034254 p.Gln183Glu Polymorphism rs9305052 - OR7A10 O76100 VAR_053225 p.Met151Thr Polymorphism rs12972670 - OR7A10 O76100 VAR_053226 p.Ile225Leu Polymorphism rs11880955 - OR7A10 O76100 VAR_053227 p.Ala273Thr Polymorphism rs10221530 - OR7A17 O14581 VAR_053228 p.Val37Ala Polymorphism rs10405148 - OR7A17 O14581 VAR_053229 p.Ile46Thr Polymorphism rs10405129 - OR7A17 O14581 VAR_053230 p.Ala69Ser Polymorphism rs10404119 - OR7A17 O14581 VAR_053231 p.Ala237Thr Polymorphism rs13345394 - OR7C1 O76099 VAR_024111 p.Val126Ile Polymorphism rs10415562 - OR7C1 O76099 VAR_024112 p.Ser210Pro Polymorphism rs16979912 - OR7C1 O76099 VAR_053232 p.Ser99Gly Polymorphism rs17230134 - OR7C1 O76099 VAR_053233 p.Glu171Lys Polymorphism rs10415312 - OR7C2 O60412 VAR_027808 p.Thr118Met Polymorphism rs8113325 - OR7C2 O60412 VAR_053234 p.Arg122His Polymorphism rs11883178 - OR7D2 Q96RA2 VAR_053235 p.Thr197Met Polymorphism rs13345452 - OR7D4 Q8NG98 VAR_037778 p.Asp52Gly Polymorphism - - OR7D4 Q8NG98 VAR_037779 p.Ser75Cys Polymorphism rs5020281 - OR7D4 Q8NG98 VAR_037780 p.Pro79Leu Unclassified - - OR7D4 Q8NG98 VAR_037781 p.Ser84Asn Polymorphism rs5020280 - OR7D4 Q8NG98 VAR_037782 p.Arg88Trp Unclassified - - OR7D4 Q8NG98 VAR_037783 p.His131Gln Polymorphism rs5020279 - OR7D4 Q8NG98 VAR_037784 p.Thr133Met Polymorphism rs5020278 - OR7D4 Q8NG98 VAR_037785 p.Met136Ile Polymorphism rs5020277 - OR7D4 Q8NG98 VAR_037786 p.Cys139Arg Polymorphism rs5020276 - OR7D4 Q8NG98 VAR_037787 p.Cys139Tyr Polymorphism rs5020275 - OR7D4 Q8NG98 VAR_037788 p.Leu162Pro Polymorphism - - OR7D4 Q8NG98 VAR_037789 p.Ala279Asp Polymorphism - - OR7D4 Q8NG98 VAR_037790 p.Leu292Met Polymorphism rs4564704 - OR7D4 Q8NG98 VAR_062056 p.Leu17Phe Polymorphism rs57568862 - OR7E24 Q6IFN5 VAR_053236 p.Ser193Phe Polymorphism rs12980833 - OR7E24 Q6IFN5 VAR_053237 p.Pro242Ser Polymorphism rs2240928 - OR7G1 Q8NGA0 VAR_034255 p.Trp141Cys Polymorphism rs2217657 - OR7G1 Q8NGA0 VAR_034256 p.Tyr252Cys Polymorphism rs2195951 - OR7G1 Q8NGA0 VAR_048074 p.Val83Ala Polymorphism rs6511874 - OR7G1 Q8NGA0 VAR_048075 p.Ala156Val Polymorphism rs7246980 - OR7G1 Q8NGA0 VAR_048076 p.Ser167Phe Polymorphism rs7246969 - OR7G2 Q8NG99 VAR_024113 p.Phe281Val Polymorphism rs4804401 - OR7G3 Q8NG95 VAR_024114 p.Met29Val Polymorphism rs10414255 - OR8A1 Q8NGG7 VAR_053238 p.Ser218Leu Polymorphism rs12792184 - OR8A1 Q8NGG7 VAR_062057 p.Thr133Arg Polymorphism rs55861866 - OR8B2 Q96RD0 VAR_055147 p.Leu27Phe Polymorphism rs530740 - OR8B2 Q96RD0 VAR_060011 p.Leu164Phe Polymorphism rs886202 - OR8B2 Q96RD0 VAR_062058 p.His20Arg Polymorphism rs28373946 - OR8B2 Q96RD0 VAR_062059 p.Ser273Phe Polymorphism rs503220 - OR8B3 Q8NGG8 VAR_047145 p.His20Arg Polymorphism rs507335 - OR8B3 Q8NGG8 VAR_047146 p.Met114Ile Polymorphism rs530992 - OR8B4 Q96RC9 VAR_024115 p.Tyr131His Polymorphism rs4057750 - OR8B4 Q96RC9 VAR_053239 p.Glu22Gly Polymorphism rs10750270 - OR8B4 Q96RC9 VAR_053240 p.Cys140Phe Polymorphism rs7116575 - OR8B4 Q96RC9 VAR_053241 p.Cys178Arg Polymorphism rs4057749 - OR8D1 Q8WZ84 VAR_024116 p.Leu194Pro Polymorphism rs4936919 - OR8D1 Q8WZ84 VAR_053242 p.Phe102Val Polymorphism rs2510433 - OR8D1 Q8WZ84 VAR_053243 p.Cys127Trp Polymorphism rs7107539 - OR8D2 Q9GZM6 VAR_024117 p.Arg122His Polymorphism rs2512219 - OR8D2 Q9GZM6 VAR_053244 p.Pro263Leu Polymorphism rs2466620 - OR8D4 Q8NGM9 VAR_024118 p.Arg133Lys Polymorphism rs7926767 - OR8D4 Q8NGM9 VAR_024119 p.Phe200Leu Polymorphism rs10790610 - OR8D4 Q8NGM9 VAR_024120 p.Leu283Pro Polymorphism rs7942047 - OR8D4 Q8NGM9 VAR_024121 p.Arg298Lys Polymorphism rs7927385 - OR8D4 Q8NGM9 VAR_034257 p.Leu55Arg Polymorphism rs17127947 - OR8D4 Q8NGM9 VAR_034258 p.Ile92Val Polymorphism rs17127950 - OR8D4 Q8NGM9 VAR_034259 p.Phe205Ser Polymorphism rs12270203 - OR8D4 Q8NGM9 VAR_053245 p.Cys120Tyr Polymorphism rs10750250 - OR8G1 Q15617 VAR_034260 p.Ala247Val Polymorphism rs4482039 - OR8G2 Q15614 VAR_058309 p.Leu30Pro Polymorphism rs11219508 - OR8H1 Q8NGG4 VAR_034261 p.Glu22Val Polymorphism rs17540861 - OR8H1 Q8NGG4 VAR_053246 p.Gly2Ser Polymorphism rs11600896 - OR8H2 Q8N162 VAR_034262 p.His120Tyr Polymorphism rs2512961 - OR8H2 Q8N162 VAR_034263 p.Tyr169Cys Polymorphism rs2449148 - OR8H2 Q8N162 VAR_062060 p.Val284Met Polymorphism rs1842696 - OR8H3 Q8N146 VAR_024122 p.Ile201Val Polymorphism rs17531522 - OR8H3 Q8N146 VAR_034264 p.Pro137Ser Polymorphism rs1842691 - OR8H3 Q8N146 VAR_034265 p.Arg295Lys Polymorphism rs11606538 - OR8H3 Q8N146 VAR_060012 p.Leu47Ile Polymorphism rs7107077 - OR8I2 Q8N0Y5 VAR_034266 p.Ile124Val Polymorphism rs17603011 - OR8I2 Q8N0Y5 VAR_034267 p.Lys139Asn Polymorphism rs17150021 - OR8J1 Q8NGP2 VAR_034268 p.Gly36Val Polymorphism rs7927015 - OR8J1 Q8NGP2 VAR_034269 p.Met114Leu Polymorphism rs7942730 - OR8J1 Q8NGP2 VAR_060013 p.Tyr120Cys Polymorphism rs10896290 - OR8J3 Q8NGG0 VAR_048052 p.Asn57Thr Polymorphism rs1947924 - OR8J3 Q8NGG0 VAR_048053 p.Val87Ile Polymorphism rs7937461 - OR8J3 Q8NGG0 VAR_048054 p.Val208Phe Polymorphism rs1384094 - OR8J3 Q8NGG0 VAR_048055 p.Asp271Glu Polymorphism rs17150102 - OR8K1 Q8NGG5 VAR_034270 p.Met21Val Polymorphism rs10896271 - OR8K1 Q8NGG5 VAR_034271 p.Pro27Thr Polymorphism rs10896272 - OR8K1 Q8NGG5 VAR_034272 p.Ala84Thr Polymorphism rs17614327 - OR8K3 Q8NH51 VAR_024123 p.Leu122Arg Polymorphism rs960193 - OR8K3 Q8NH51 VAR_034273 p.Val173Ile Polymorphism rs12291617 - OR8K3 Q8NH51 VAR_034274 p.Ile275Met Polymorphism rs17150317 - OR8K5 Q8NH50 VAR_048056 p.Phe68Ser Polymorphism rs2512938 - OR8S1 Q8NH09 VAR_034275 p.Met48Val Polymorphism rs2731073 - OR8S1 Q8NH09 VAR_057566 p.Leu82Pro Polymorphism rs4075258 - OR8S1 Q8NH09 VAR_057567 p.Arg128Cys Polymorphism rs12425460 - OR8U1 Q8NH10 VAR_053247 p.His20Arg Polymorphism rs11228166 - OR8U1 Q8NH10 VAR_053248 p.Ile109Val Polymorphism rs12788990 - OR8U1 Q8NH10 VAR_053249 p.Ser112Cys Polymorphism rs10791961 - OR8U1 Q8NH10 VAR_053250 p.Arg165Cys Polymorphism rs17150411 - OR8U1 Q8NH10 VAR_053251 p.Leu288Val Polymorphism rs1573509 - OR8U1 Q8NH10 VAR_053252 p.Gln293Arg Polymorphism rs12272403 - OR8U1 Q8NH10 VAR_060014 p.Thr137Ser Polymorphism rs10791962 - OR8U1 Q8NH10 VAR_060015 p.Met206Ile Polymorphism rs10896310 - OR8U1 Q8NH10 VAR_060016 p.Met206Thr Polymorphism rs10896309 - OR9A2 Q8NGT5 VAR_053253 p.Arg53His Polymorphism rs9885986 - OR9G1 Q8NH87 VAR_032777 p.Cys53Arg Polymorphism rs532637 - OR9G1 Q8NH87 VAR_032778 p.Phe61Val Polymorphism rs3975155 - OR9G1 Q8NH87 VAR_032779 p.Thr83Ile Polymorphism rs602224 - OR9G1 Q8NH87 VAR_032780 p.Tyr112Cys Polymorphism rs4990194 - OR9G1 Q8NH87 VAR_032781 p.Val117Met Polymorphism rs591369 - OR9G1 Q8NH87 VAR_034276 p.Ala259Ser Polymorphism rs7121276 - OR9G1 Q8NH87 VAR_053254 p.Arg169Cys Polymorphism rs11228733 - OR9G1 Q8NH87 VAR_053255 p.Glu185Lys Polymorphism rs11228735 - OR9G1 Q8NH87 VAR_053256 p.Lys231Gln Polymorphism rs12420076 - OR9G1 Q8NH87 VAR_060017 p.Cys53Tyr Polymorphism rs532635 - OR9G1 Q8NH87 VAR_060018 p.Thr62Ile Polymorphism rs2865520 - OR9G1 Q8NH87 VAR_060019 p.Cys98Gly Polymorphism rs11228732 - OR9G1 Q8NH87 VAR_060020 p.Tyr233Cys Polymorphism rs10896517 - OR9G1 Q8NH87 VAR_060021 p.Tyr233His Polymorphism rs10896516 - OR9G4 Q8NGQ1 VAR_053257 p.Phe43Ser Polymorphism rs11228763 - OR9G4 Q8NGQ1 VAR_053258 p.Asn206Asp Polymorphism rs577576 - OR9G4 Q8NGQ1 VAR_053259 p.Val222Ala Polymorphism rs513873 - OR9K2 Q8NGE7 VAR_048057 p.Arg45Cys Polymorphism rs12303066 - OR9K2 Q8NGE7 VAR_048058 p.Glu103Ala Polymorphism rs7305779 - OR9K2 Q8NGE7 VAR_048059 p.Arg207His Polymorphism rs7306491 - OR9Q1 Q8NGQ5 VAR_053260 p.Arg159Leu Polymorphism rs12420738 - OR9Q2 Q8NGE9 VAR_062061 p.Cys179Arg Polymorphism rs34337292 - ORAI1 Q96D31 VAR_026226 p.Arg91Trp Disease - Immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1) [MIM:612782] ORAI1 Q96D31 VAR_038608 p.Ser218Gly Polymorphism rs3741596 - ORAI2 Q96SN7 VAR_053543 p.Ala15Pro Polymorphism rs34947403 - ORAOV1 Q8WV07 VAR_062231 p.Gly3Ser Polymorphism rs56107468 - ORC1 Q13415 VAR_014507 p.Arg19Ser Polymorphism rs3087473 - ORC1 Q13415 VAR_014508 p.Gln180His Polymorphism rs3087482 - ORC1 Q13415 VAR_014509 p.Val190Met Polymorphism rs3087477 - ORC1 Q13415 VAR_014510 p.Ala372Val Polymorphism rs3087476 - ORC1 Q13415 VAR_014511 p.Arg441Met Polymorphism rs3087472 - ORC1 Q13415 VAR_014512 p.Lys456Glu Polymorphism rs3087470 - ORC1 Q13415 VAR_014513 p.Thr466Met Polymorphism rs3087481 - ORC1 Q13415 VAR_014514 p.Cys469Tyr Polymorphism rs3087483 - ORC1 Q13415 VAR_050426 p.Met816Thr Polymorphism rs34521609 - ORC1 Q13415 VAR_065481 p.Phe89Ser Disease - Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] ORC1 Q13415 VAR_065482 p.Arg105Gln Disease - Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] ORC1 Q13415 VAR_065483 p.Glu127Gly Disease - Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] ORC1 Q13415 VAR_065484 p.Arg666Trp Disease - Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] ORC1 Q13415 VAR_065485 p.Arg720Gln Disease - Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] ORC2 Q13416 VAR_014515 p.Met106Lys Polymorphism rs2307361 - ORC2 Q13416 VAR_021276 p.Arg521Gln Polymorphism rs16835624 - ORC3 Q9UBD5 VAR_014516 p.Gln94Lys Polymorphism rs2307365 - ORC3 Q9UBD5 VAR_014517 p.Gln126Arg Polymorphism rs2307371 - ORC3 Q9UBD5 VAR_014518 p.Val217Ile Polymorphism rs2307389 - ORC3 Q9UBD5 VAR_014519 p.Ile247Val Polymorphism rs2307374 - ORC3 Q9UBD5 VAR_014520 p.Thr287Met Polymorphism rs2307381 - ORC3 Q9UBD5 VAR_014521 p.Thr389Pro Polymorphism rs2307372 - ORC3 Q9UBD5 VAR_014522 p.Arg588Cys Polymorphism rs2307370 - ORC3 Q9UBD5 VAR_020656 p.Ala626Thr Polymorphism rs28381545 - ORC4 O43929 VAR_014523 p.Leu56Val Polymorphism rs2307397 - ORC4 O43929 VAR_019235 p.Asn78Ser Polymorphism rs2307394 - ORC4 O43929 VAR_065486 p.Tyr174Cys Disease - Meier-Gorlin syndrome type 2 (MGORS2) [MIM:613800] ORC5 O43913 VAR_011800 p.Gly37Arg Polymorphism rs1056677 - ORC5 O43913 VAR_014524 p.Lys52Asn Polymorphism rs2307413 - ORC5 O43913 VAR_014525 p.Arg166Cys Polymorphism rs2307402 - ORC6 Q9Y5N6 VAR_029283 p.Arg32Trp Polymorphism rs3218744 - ORC6 Q9Y5N6 VAR_029284 p.Pro138Gln Polymorphism rs3218745 - ORC6 Q9Y5N6 VAR_065487 p.Tyr232Ser Disease - Meier-Gorlin syndrome type 3 (MGORS3) [MIM:613803] ORM1 P02763 VAR_013840 p.Gln38Arg Polymorphism - - ORM1 P02763 VAR_013841 p.Val174Met Polymorphism rs1126801 - ORM1 P02763 VAR_056166 p.Arg167Cys Polymorphism rs3182034 - ORM2 P19652 VAR_014667 p.Arg38Gln Polymorphism rs17650 - ORM2 P19652 VAR_050172 p.Val99Ala Polymorphism rs2636889 - ORM2 P19652 VAR_050173 p.Gly141Arg Polymorphism rs12685968 - ORM2 P19652 VAR_050174 p.Cys167Arg Polymorphism rs1126777 - ORM2 P19652 VAR_050175 p.Met174Val Polymorphism rs2636890 - OS9 Q13438 VAR_011897 p.Arg398Trp Polymorphism rs1804598 - OS9 Q13438 VAR_034364 p.Ser454Leu Polymorphism rs34764811 - OSBP2 Q969R2 VAR_053546 p.Met760Val Polymorphism rs34240867 - OSBPL10 Q9BXB5 VAR_022100 p.Asn254Asp Polymorphism rs2290532 - OSBPL11 Q9BXB4 VAR_036100 p.Ser184Leu Unclassified - A breast cancer sample OSBPL1A Q9BXW6 VAR_053547 p.Ser810Pro Polymorphism rs35693789 - OSBPL3 Q9H4L5 VAR_053548 p.Met354Val Polymorphism rs11768296 - OSBPL5 Q9H0X9 VAR_020414 p.Ala774Thr Polymorphism rs2277301 - OSBPL5 Q9H0X9 VAR_060079 p.Thr90Ile Polymorphism rs6578323 - OSBPL6 Q9BZF3 VAR_053550 p.Pro58Leu Polymorphism rs34874235 - OSBPL6 Q9BZF3 VAR_057663 p.Arg53Gln Polymorphism rs35032920 - OSBPL7 Q9BZF2 VAR_053551 p.Thr156Ile Polymorphism rs35437144 - OSBPL7 Q9BZF2 VAR_060080 p.Met148Ile Polymorphism rs8076196 - OSBPL7 Q9BZF2 VAR_060081 p.Ala169Glu Polymorphism rs8071195 - OSBP P22059 VAR_036099 p.Asp278Ala Unclassified - A colorectal cancer sample OSCAR Q8IYS5 VAR_037108 p.Ile97Ser Polymorphism rs1657535 - OSCAR Q8IYS5 VAR_047393 p.Ser229Tyr Polymorphism rs8106130 - OSCP1 Q8WVF1 VAR_027741 p.Pro31Arg Polymorphism rs11547025 - OSCP1 Q8WVF1 VAR_027742 p.Lys242Glu Polymorphism rs2359016 - OSCP1 Q8WVF1 VAR_056958 p.Thr141Ala Polymorphism rs34409118 - OSGEPL1 Q9H4B0 VAR_036651 p.Ala229Pro Polymorphism rs3749014 - OSGIN1 Q9UJX0 VAR_056575 p.Glu439Asp Polymorphism rs35145453 - OSGIN1 Q9UJX0 VAR_065237 p.Pro6Leu Polymorphism rs4782865 - OSGIN1 Q9UJX0 VAR_065238 p.Asn34Thr Polymorphism rs28555129 - OSGIN1 Q9UJX0 VAR_065239 p.Met57Leu Polymorphism rs2244899 - OSGIN1 Q9UJX0 VAR_065240 p.Leu59Val Polymorphism rs2244898 - OSGIN2 Q9Y236 VAR_050421 p.Tyr101His Polymorphism rs35542900 - OSGIN2 Q9Y236 VAR_050422 p.Cys319Ser Polymorphism rs35599414 - OSM P13725 VAR_049782 p.Thr9Met Polymorphism rs5763919 - OSMR Q99650 VAR_028972 p.Gly210Trp Polymorphism rs17855841 - OSMR Q99650 VAR_028973 p.Glu527Lys Polymorphism rs10941412 - OSMR Q99650 VAR_028974 p.Asp553Asn Polymorphism rs2278329 - OSMR Q99650 VAR_028975 p.Pro936Ser Polymorphism rs3749737 - OSMR Q99650 VAR_043512 p.His187Gln Polymorphism rs34675408 - OSMR Q99650 VAR_043513 p.Gly618Ala Disease - Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250] OSMR Q99650 VAR_043514 p.Ile691Thr Disease - Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250] OSMR Q99650 VAR_043515 p.Pro959Arg Polymorphism rs34080825 - OSTC Q9NRP0 VAR_039231 p.Phe9Leu Unclassified - A breast cancer sample OSTF1 Q92882 VAR_026573 p.Leu159Phe Polymorphism rs17850197 - OSTF1 Q92882 VAR_048309 p.Asn48Ser Polymorphism rs2295862 - OSTM1 Q86WC4 VAR_051257 p.Leu52Phe Polymorphism rs9480830 - OTC P00480 VAR_004843 p.Arg26Gln Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004844 p.Gly39Cys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004845 p.Arg40Cys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004846 p.Arg40His Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004847 p.Leu43Phe Polymorphism - - OTC P00480 VAR_004848 p.Thr44Ile Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004849 p.Leu45Pro Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004850 p.Leu45Val Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004851 p.Lys46Arg Polymorphism rs1800321 - OTC P00480 VAR_004852 p.Asn47Ile Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004853 p.Gly50Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004854 p.Tyr55Asp Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004855 p.Met56Thr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004856 p.Ser60Leu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004857 p.Leu63Pro Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004858 p.Gly79Glu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004860 p.Gly83Asp Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004861 p.Gly83Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004862 p.Glu87Lys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004863 p.Lys88Asn Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004864 p.Ser90Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004865 p.Arg92Gln Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004866 p.Thr93Ala Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004867 p.Arg94Thr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004868 p.Gly100Asp Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004869 p.Phe101Leu Polymorphism - - OTC P00480 VAR_004870 p.Ala102Glu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004871 p.Leu111Pro Polymorphism rs1800324 - OTC P00480 VAR_004872 p.His117Leu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004873 p.His117Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004874 p.Thr125Met Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004875 p.Asp126Gly Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004876 p.Arg129His Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004877 p.Leu139Ser Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004878 p.Arg141Pro Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004879 p.Arg141Gln Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004880 p.Leu148Phe Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004881 p.Ile159Thr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004882 p.Asn161Ser Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004883 p.Gly162Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004884 p.His168Gln Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004885 p.His168Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004886 p.Ile172Met Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004887 p.Ala174Pro Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004888 p.Asp175Val Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004889 p.Tyr176Cys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004890 p.Thr178Met Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004892 p.Gln180His Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004893 p.Glu181Gly Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004894 p.His182Leu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004895 p.Tyr183Cys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004896 p.Tyr183Asp Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004897 p.Gly188Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004898 p.Ser192Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004899 p.Gly195Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004900 p.Asp196Val Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004901 p.Asp196Tyr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004902 p.Gly197Glu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004903 p.Leu201Pro Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004904 p.His202Tyr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004905 p.Ser203Cys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004906 p.Met206Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004907 p.Ser207Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004908 p.Ala208Thr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004909 p.Ala209Val Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004910 p.Met213Lys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004911 p.Gln216Glu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004912 p.Pro220Ala Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004913 p.Pro225Leu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004914 p.Pro225Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004915 p.Pro225Thr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004916 p.Thr242Ile Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004917 p.Leu244Gln Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004918 p.Thr247Lys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004919 p.His255Pro Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004920 p.Asp263Gly Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004921 p.Asp263Asn Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004922 p.Thr264Ala Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004923 p.Thr264Ile Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004924 p.Ser267Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004925 p.Met268Thr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004926 p.Gly269Glu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004927 p.Gln270Arg Polymorphism rs1800328 - OTC P00480 VAR_004929 p.Arg277Gln Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004930 p.Arg277Trp Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004931 p.His302Leu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004932 p.His302Gln Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004933 p.His302Tyr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004934 p.Cys303Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004935 p.Cys303Tyr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004936 p.Leu304Phe Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004938 p.Arg320Leu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004939 p.Arg330Gly Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004940 p.Ala336Ser Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004941 p.Val337Leu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004942 p.Val339Leu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004943 p.Ser340Pro Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004944 p.Thr343Lys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004946 p.Tyr345Cys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004947 p.Tyr345Asp Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_004948 p.Phe354Cys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_009233 p.Ile172Phe Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_009234 p.Gly188Val Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_009235 p.Gly197Arg Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010605 p.Ala140Pro Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010606 p.Asn198Lys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010607 p.His214Tyr Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010608 p.Thr262Lys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010609 p.Trp265Leu Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_010610 p.Glu326Lys Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012651 p.Ile160Ser Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012652 p.Leu191Phe Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012653 p.Met206Ile Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012654 p.Leu301Phe Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012655 p.Pro305His Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTC P00480 VAR_012656 p.Thr333Ala Polymorphism - - OTC P00480 VAR_012657 p.Leu341Pro Disease - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] OTOF Q9HC10 VAR_028028 p.Arg818Trp Polymorphism rs2272070 - OTOF Q9HC10 VAR_028029 p.Pro1646Ser Polymorphism rs17005371 - OTOF Q9HC10 VAR_028030 p.Arg1680His Polymorphism rs11893228 - OTOF Q9HC10 VAR_032226 p.Ala53Val Polymorphism rs1879761 - OTOF Q9HC10 VAR_032227 p.Arg82Cys Polymorphism rs13031859 - OTOF Q9HC10 VAR_032228 p.Pro490Gln Disease - Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032229 p.Ile515Thr Disease - Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_032229 p.Ile515Thr Disease - Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032230 p.Val575Met Polymorphism rs55676840 - OTOF Q9HC10 VAR_032231 p.Arg773Ser Polymorphism - - OTOF Q9HC10 VAR_032232 p.Arg794His Disease - Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032233 p.Arg822Trp Disease - Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032234 p.Leu1011Pro Disease - Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_032234 p.Leu1011Pro Disease - Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032235 p.Ala1083Pro Polymorphism - - OTOF Q9HC10 VAR_032236 p.Arg1157Gln Polymorphism rs56054534 - OTOF Q9HC10 VAR_032237 p.Asp1322Glu Polymorphism - - OTOF Q9HC10 VAR_032238 p.Val1625Met Polymorphism - - OTOF Q9HC10 VAR_032239 p.Pro1825Ala Disease rs28937591 Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] OTOF Q9HC10 VAR_032240 p.Gly1888Asp Polymorphism - - OTOF Q9HC10 VAR_032241 p.Arg1939Gln Disease - Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_032242 p.Pro1987Arg Disease - Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_035895 p.Glu1323Lys Unclassified - A breast cancer sample OTOF Q9HC10 VAR_035896 p.Ile1547Val Unclassified - A breast cancer sample OTOF Q9HC10 VAR_046003 p.Gln255His Disease - Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_046004 p.Ala964Glu Disease - Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_046005 p.Leu1138Pro Disease - Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_046006 p.Arg1236Gln Polymorphism - - OTOF Q9HC10 VAR_046007 p.Thr1688Lys Polymorphism - - OTOF Q9HC10 VAR_046008 p.Phe1795Cys Disease - Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] OTOF Q9HC10 VAR_049057 p.Val1886Ala Polymorphism rs45442103 - OTOGL Q3ZCN5 VAR_038388 p.Cys2276Phe Unclassified - A breast cancer sample OTOG Q6ZRI0 VAR_037406 p.Thr375Ser Polymorphism rs7130190 - OTOG Q6ZRI0 VAR_037407 p.Thr659Met Polymorphism rs7112749 - OTOG Q6ZRI0 VAR_037408 p.Ser692Pro Polymorphism rs7106548 - OTOG Q6ZRI0 VAR_037409 p.Ala919Thr Polymorphism rs2355466 - OTOG Q6ZRI0 VAR_037410 p.Arg1075Gln Polymorphism rs11024333 - OTOG Q6ZRI0 VAR_037411 p.Ala1112Val Polymorphism rs7936324 - OTOG Q6ZRI0 VAR_037412 p.Pro1129Leu Polymorphism rs7936354 - OTOG Q6ZRI0 VAR_037413 p.Ala1399Gly Polymorphism rs4491195 - OTOG Q6ZRI0 VAR_037414 p.Pro1646Leu Polymorphism rs2041028 - OTOG Q6ZRI0 VAR_037415 p.Ala1832Val Polymorphism rs1003490 - OTOG Q6ZRI0 VAR_037416 p.Thr1947Met Polymorphism rs7111528 - OTOG Q6ZRI0 VAR_037417 p.Arg2750Gln Polymorphism rs12422210 - OTOG Q6ZRI0 VAR_037418 p.Trp2909Ser Polymorphism rs11024357 - OTOG Q6ZRI0 VAR_047262 p.Ala2006Val Polymorphism rs11024341 - OTOG Q6ZRI0 VAR_061161 p.Ala391Asp Polymorphism rs61611064 - OTOL1 A6NHN0 VAR_042975 p.Glu470Ala Polymorphism rs3921595 - OTOP1 Q7RTM1 VAR_037755 p.Ile241Val Polymorphism rs28394859 - OTOP1 Q7RTM1 VAR_037756 p.Asp309Glu Polymorphism rs2916414 - OTOP1 Q7RTM1 VAR_037757 p.Val434Met Polymorphism rs11736799 - OTOP1 Q7RTM1 VAR_037758 p.Lys493Thr Polymorphism rs34666677 - OTOP1 Q7RTM1 VAR_037759 p.Gln516His Polymorphism rs35106142 - OTOP2 Q7RTS6 VAR_037760 p.Ala392Val Unclassified - A colorectal cancer sample OTOP2 Q7RTS6 VAR_037761 p.Gly465Trp Polymorphism rs6501741 - OTOP3 Q7RTS5 VAR_037762 p.Arg64Gln Polymorphism rs7210616 - OTOP3 Q7RTS5 VAR_037763 p.Arg146Gln Polymorphism rs9890664 - OTOP3 Q7RTS5 VAR_037764 p.Ser199Pro Polymorphism rs1542752 - OTOP3 Q7RTS5 VAR_062217 p.Leu477Val Polymorphism rs35131040 - OTOR Q9NRC9 VAR_024537 p.Leu31Pro Polymorphism rs6135876 - OTOS Q8NHW6 VAR_020601 p.Pro7Leu Polymorphism rs35889242 - OTUD3 Q5T2D3 VAR_051258 p.Asn321Ser Polymorphism rs2298110 - OTUD3 Q5T2D3 VAR_051259 p.Ala333Thr Polymorphism rs10916668 - OTUD4 Q01804 VAR_029377 p.Ala194Gly Polymorphism rs36225458 - OTUD4 Q01804 VAR_038848 p.Ala216Thr Polymorphism - - OTUD6B Q8N6M0 VAR_034144 p.Arg283Gln Polymorphism rs3210518 - OTX2 P32243 VAR_029354 p.Arg89Gly Disease - Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125] OTX2 P32243 VAR_029355 p.Pro133Thr Disease - Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125] OTX2 P32243 VAR_029356 p.Pro134Ala Disease - Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125] OVCH1 Q7RTY7 VAR_029089 p.Arg133Cys Polymorphism rs10843438 - OVCH1 Q7RTY7 VAR_029090 p.Trp228Gly Polymorphism rs967181 - OVCH1 Q7RTY7 VAR_029091 p.Lys330Glu Polymorphism rs3847680 - OVCH1 Q7RTY7 VAR_029092 p.Ile444Thr Polymorphism rs7975356 - OVCH1 Q7RTY7 VAR_029093 p.Ser672Phe Polymorphism rs11050243 - OVCH1 Q7RTY7 VAR_029094 p.Gly754Arg Polymorphism rs12305672 - OVCH1 Q7RTY7 VAR_029095 p.Pro881Ala Polymorphism rs1347570 - OVCH1 Q7RTY7 VAR_029096 p.Pro934Ser Polymorphism rs7967676 - OVCH1 Q7RTY7 VAR_057159 p.Leu557Val Polymorphism rs35183403 - OVCH2 Q7RTZ1 VAR_029097 p.Arg19Gln Polymorphism rs7927138 - OVCH2 Q7RTZ1 VAR_029098 p.Pro292Ser Polymorphism rs10839849 - OVCH2 Q7RTZ1 VAR_029099 p.Gly381Glu Polymorphism rs3925028 - OVCH2 Q7RTZ1 VAR_029100 p.Asn410Thr Polymorphism rs4528317 - OVCH2 Q7RTZ1 VAR_029101 p.Arg413Gly Polymorphism rs3925027 - OVCH2 Q7RTZ1 VAR_029102 p.His526Gln Polymorphism rs4519083 - OVCH2 Q7RTZ1 VAR_029103 p.Thr539Ile Polymorphism rs4633461 - OVCH2 Q7RTZ1 VAR_057160 p.Asn410Tyr Polymorphism rs4528317 - OVCH2 Q7RTZ1 VAR_059786 p.Thr24Ala Polymorphism rs12289558 - OVGP1 Q12889 VAR_016109 p.Glu676Gln Polymorphism rs7825 - OVGP1 Q12889 VAR_024459 p.Met477Thr Polymorphism rs2485319 - OVGP1 Q12889 VAR_024460 p.His604Gln Polymorphism rs10067 - OVGP1 Q12889 VAR_035752 p.Leu662His Unclassified - A colorectal cancer sample OVGP1 Q12889 VAR_049199 p.Asp332Glu Polymorphism rs17027633 - OVGP1 Q12889 VAR_049200 p.Met479Val Polymorphism rs3767607 - OVGP1 Q12889 VAR_049201 p.Tyr514His Polymorphism rs1126656 - OVGP1 Q12889 VAR_049202 p.Ser536Gly Polymorphism rs3767609 - OVGP1 Q12889 VAR_061190 p.Pro526Ser Polymorphism rs12096782 - OVOS2 Q6IE36 VAR_055459 p.Thr211Met Polymorphism rs7971718 - OVOS2 Q6IE36 VAR_055460 p.Leu587Val Polymorphism rs12309295 - OVOS2 Q6IE36 VAR_055461 p.Ser789Leu Polymorphism rs11051266 - OVOS2 Q6IE36 VAR_055462 p.Val1328Ala Polymorphism rs17418189 - OXA1L Q15070 VAR_014932 p.Val44Ala Polymorphism rs8572 - OXA1L Q15070 VAR_014933 p.Val91Ile Polymorphism rs17619 - OXCT1 P55809 VAR_000695 p.Thr58Met Polymorphism - - OXCT1 P55809 VAR_000696 p.Val133Glu Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_000697 p.Cys456Phe Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_010337 p.Gly219Glu Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_010338 p.Val221Met Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_010339 p.Gly324Glu Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065564 p.Ala215Val Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065565 p.Ser226Asn Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065566 p.Leu327Pro Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065567 p.Val404Phe Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065568 p.Ser405Pro Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT1 P55809 VAR_065569 p.Arg468Cys Disease - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] OXCT2 Q9BYC2 VAR_059134 p.Glu250Asp Polymorphism rs7542609 - OXCT2 Q9BYC2 VAR_059135 p.Leu285Arg Polymorphism rs230321 - OXER1 Q8TDS5 VAR_023940 p.Leu407Val Polymorphism rs2278586 - OXER1 Q8TDS5 VAR_049428 p.Met316Leu Polymorphism rs17029947 - OXNAD1 Q96HP4 VAR_034855 p.Arg59Gln Polymorphism rs17042066 - OXNAD1 Q96HP4 VAR_034856 p.Ser64Ala Polymorphism rs842274 - OXNAD1 Q96HP4 VAR_034857 p.Arg82Cys Polymorphism rs6777976 - OXR1 Q8N573 VAR_025861 p.Glu100Gly Polymorphism - - OXR1 Q8N573 VAR_025862 p.Gln360Pro Polymorphism - - OXR1 Q8N573 VAR_025863 p.Lys516Arg Polymorphism - - OXSM Q9NWU1 VAR_036064 p.Phe106Ile Unclassified - A breast cancer sample OXSR1 O95747 VAR_023232 p.Thr304Ile Polymorphism rs6599079 - OXSR1 O95747 VAR_025181 p.Ser425Thr Polymorphism rs35295772 - OXSR1 O95747 VAR_040969 p.Pro433Ser Unclassified - A metastatic melanoma sample OXTR P30559 VAR_031570 p.Ala16Ser Polymorphism rs237906 - OXTR P30559 VAR_031571 p.Ala218Thr Polymorphism rs4686302 - n.a. P01774 VAR_003966 p.Asn54Asp Unclassified - - n.a. P0C867 VAR_046072 p.Ser98Leu Polymorphism rs590557 - P2RX1 P51575 VAR_053552 p.Met396Val Polymorphism rs34617528 - P2RX3 P56373 VAR_034674 p.Ala383Val Polymorphism rs2276038 - P2RX4 Q99571 VAR_014942 p.Ser242Gly Polymorphism rs25644 - P2RX4 Q99571 VAR_028307 p.Ala6Ser Polymorphism rs1044249 - P2RX6 O15547 VAR_020338 p.Arg242His Polymorphism rs2277838 - P2RX6 O15547 VAR_057664 p.Val38Gly Polymorphism rs2006846 - P2RX7 Q99572 VAR_019648 p.Arg270His Polymorphism rs7958311 - P2RX7 Q99572 VAR_019649 p.Tyr155His Polymorphism rs208294 - P2RX7 Q99572 VAR_019650 p.Thr357Ser Polymorphism rs2230911 - P2RX7 Q99572 VAR_019651 p.Gln460Arg Polymorphism rs2230912 - P2RX7 Q99572 VAR_019652 p.Glu496Ala Polymorphism rs3751143 - P2RX7 Q99572 VAR_036444 p.Asn25Ser Unclassified - A colorectal cancer sample P2RX7 Q99572 VAR_036445 p.Arg574Leu Unclassified - A colorectal cancer sample P2RX7 Q99572 VAR_057665 p.Val76Ala Polymorphism rs17525809 - P2RX7 Q99572 VAR_057666 p.Gly150Arg Polymorphism rs28360447 - P2RX7 Q99572 VAR_057667 p.Arg270Cys Polymorphism rs16950860 - P2RX7 Q99572 VAR_057668 p.Arg276His Polymorphism rs7958316 - P2RX7 Q99572 VAR_057669 p.Arg307Gln Polymorphism rs28360457 - P2RX7 Q99572 VAR_057670 p.Ala348Thr Polymorphism rs1718119 - P2RX7 Q99572 VAR_057671 p.Pro430Arg Polymorphism rs10160951 - P2RX7 Q99572 VAR_057672 p.Ala433Val Polymorphism rs28360459 - P2RX7 Q99572 VAR_057673 p.His521Gln Polymorphism rs2230913 - P2RX7 Q99572 VAR_057674 p.Val522Ile Polymorphism rs34219304 - P2RX7 Q99572 VAR_057675 p.Arg578Gln Polymorphism rs28360460 - P2RY10 O00398 VAR_033481 p.Asn3His Polymorphism rs6618868 - P2RY11 Q96G91 VAR_020074 p.Ala87Thr Polymorphism rs3745601 - P2RY12 Q9H244 VAR_025383 p.Arg256Gln Disease - Bleeding disorder platelet-type 8 (BDPLT8) [MIM:609821] P2RY12 Q9H244 VAR_025384 p.Arg265Trp Disease - Bleeding disorder platelet-type 8 (BDPLT8) [MIM:609821] P2RY12 Q9H244 VAR_049431 p.Glu330Gly Polymorphism rs16846673 - P2RY13 Q9BPV8 VAR_028299 p.Thr179Met Polymorphism rs1466684 - P2RY14 Q15391 VAR_035767 p.Leu140Pro Unclassified - A colorectal cancer sample P2RY2 P41231 VAR_054870 p.Pro46Leu Polymorphism rs2511241 - P2RY2 P41231 VAR_054871 p.Arg312Ser Polymorphism rs3741156 - P2RY2 P41231 VAR_054872 p.Arg334Cys Polymorphism rs1626154 - P2RY4 P51582 VAR_011854 p.Val168Met Polymorphism rs1152186 - P2RY4 P51582 VAR_011855 p.Asn178Thr Polymorphism rs1152187 - P2RY4 P51582 VAR_011856 p.Pro191Leu Polymorphism rs1152188 - P2RY4 P51582 VAR_049429 p.Ser234Ala Polymorphism rs3829709 - P4HA3 Q7Z4N8 VAR_038675 p.Asp400Asn Polymorphism rs2282488 - PAAF1 Q9BRP4 VAR_026415 p.Ala53Val Polymorphism rs17850051 - PAAF1 Q9BRP4 VAR_026416 p.Ala209Gly Polymorphism rs3741138 - PAAF1 Q9BRP4 VAR_032082 p.Cys139Ser Polymorphism rs2067912 - PABPC1L Q4VXU2 VAR_054047 p.Ser212Ala Polymorphism rs2075960 - PABPC1L Q4VXU2 VAR_060184 p.Ser492Gly Polymorphism rs6513956 - PABPC4L P0CB38 VAR_060185 p.Val192Ile Polymorphism rs10009368 - PABPC4L P0CB38 VAR_060186 p.Ser331Asn Polymorphism rs6830036 - PABPC4L P0CB38 VAR_060187 p.His370Pro Polymorphism rs11099273 - PABPC4 Q13310 VAR_054048 p.Tyr382Phe Polymorphism rs9820 - PABPC5 Q96DU9 VAR_054049 p.Asn314Ser Polymorphism rs7050077 - PACS1 Q6VY07 VAR_053797 p.Phe302Leu Polymorphism rs12798852 - PACS2 Q86VP3 VAR_028947 p.Thr185Ala Polymorphism rs8010888 - PACS2 Q86VP3 VAR_053798 p.Leu493Ser Polymorphism rs4076933 - PACSIN1 Q9BY11 VAR_053554 p.Ala334Val Polymorphism rs41312309 - PACSIN2 Q9UNF0 VAR_013711 p.Met294Ile Polymorphism rs2746984 - PACSIN2 Q9UNF0 VAR_013712 p.Val324Phe Polymorphism rs1062913 - PACSIN2 Q9UNF0 VAR_053555 p.Asn175Ser Polymorphism rs35383004 - PACSIN3 Q9UKS6 VAR_053556 p.Ala61Val Polymorphism rs7106654 - PADI1 Q9ULC6 VAR_053557 p.Val649Met Polymorphism rs16824215 - PADI3 Q9ULW8 VAR_020462 p.Ile52Val Polymorphism rs3750300 - PADI3 Q9ULW8 VAR_020463 p.Val171Met Polymorphism rs2272629 - PADI3 Q9ULW8 VAR_035502 p.Gly509Arg Unclassified - A breast cancer sample PADI3 Q9ULW8 VAR_053558 p.Ala582Thr Polymorphism rs34097903 - PADI3 Q9ULW8 VAR_053559 p.Arg618Gln Polymorphism rs35624745 - PADI4 Q9UM07 VAR_020639 p.Gly55Ser Polymorphism rs11203366 - PADI4 Q9UM07 VAR_020640 p.Val82Ala Polymorphism rs11203367 - PADI4 Q9UM07 VAR_020641 p.Gly112Ala Polymorphism rs874881 - PADI4 Q9UM07 VAR_020642 p.Ser275Phe Polymorphism rs1748020 - PADI4 Q9UM07 VAR_027401 p.Asp89Asn Polymorphism - - PADI4 Q9UM07 VAR_027402 p.Pro102Thr Polymorphism rs34309058 - PADI4 Q9UM07 VAR_027403 p.Arg131Thr Polymorphism rs12733102 - PADI4 Q9UM07 VAR_027404 p.Met164Thr Polymorphism rs11588132 - PADI4 Q9UM07 VAR_053560 p.Arg8His Polymorphism rs35381732 - PADI4 Q9UM07 VAR_053561 p.Thr79Met Polymorphism rs35809521 - PADI4 Q9UM07 VAR_053562 p.Asp260Asn Polymorphism rs35903413 - PAEP P09466 VAR_034355 p.Gln126Lys Polymorphism rs3748210 - PAEP P09466 VAR_050178 p.Leu28Val Polymorphism rs34284195 - PAFAH1B1 P43034 VAR_007724 p.His149Arg Disease - Lissencephaly type 1 (LIS1) [MIM:607432] PAFAH1B1 P43034 VAR_010203 p.Ser169Pro Disease - Subcortical band heterotopia (SBH) [MIM:607432] PAFAH1B1 P43034 VAR_015398 p.Phe31Ser Disease - Lissencephaly type 1 (LIS1) [MIM:607432] PAFAH1B1 P43034 VAR_015399 p.Gly162Ser Disease rs28936410 Lissencephaly type 1 (LIS1) [MIM:607432] PAFAH1B1 P43034 VAR_015400 p.Asp317His Disease rs28936689 Lissencephaly type 1 (LIS1) [MIM:607432] PAFAH1B1 P43034 VAR_037300 p.Arg241Pro Disease rs28936411 Subcortical band heterotopia (SBH) [MIM:607432] PAFAH1B1 P43034 VAR_037301 p.His277Pro Disease - Lissencephaly type 1 (LIS1) [MIM:607432] PAFAH1B3 Q15102 VAR_051261 p.Arg214Gly Polymorphism rs1043818 - PAGE1 O75459 VAR_027767 p.Leu75Pro Polymorphism rs1055197 - PAGE2 Q7Z2X7 VAR_053099 p.Leu5Val Polymorphism rs1845444 - PAGE3 Q5JUK9 VAR_027097 p.Asn35Asp Polymorphism rs4826381 - PAGE3 Q5JUK9 VAR_027098 p.Gly53Ser Polymorphism rs2296807 - PAH P00439 VAR_000869 p.Ser16Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000870 p.Phe39Leu Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_000870 p.Phe39Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000872 p.Ser40Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000873 p.Leu41Phe Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000874 p.Lys42Ile Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000875 p.Gly46Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000876 p.Ala47Val Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000877 p.Leu48Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000878 p.Arg53His Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000879 p.Phe55Leu Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_000879 p.Phe55Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000880 p.Glu56Asp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000882 p.Ile65Asn Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000883 p.Ile65Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000884 p.Ser67Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000885 p.Arg68Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000886 p.Glu76Ala Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000887 p.Asp84Tyr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000888 p.Ser87Arg Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000889 p.Thr92Ile Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000891 p.Leu98Ser Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000892 p.Ala104Asp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000893 p.Thr124Ile Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000894 p.Asp129Tyr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000895 p.Asp143Gly Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000896 p.His146Tyr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000897 p.Gly148Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000898 p.Asp151His Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000899 p.Tyr154Asn Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000900 p.Arg157Asn Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000901 p.Arg158Gln Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000902 p.Arg158Trp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000903 p.Gln160Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000904 p.Phe161Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000905 p.Ile164Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000906 p.Asn167Ile Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000907 p.His170Arg Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000908 p.Gly171Ala Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000909 p.Gly171Arg Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000910 p.Pro173Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000911 p.Ile174Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000912 p.Pro175Ala Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000913 p.Arg176Leu Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000914 p.Arg176Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000915 p.Val177Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000916 p.Glu178Gly Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000917 p.Val190Ala Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000918 p.Leu194Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000922 p.His201Arg Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000923 p.His201Tyr Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000924 p.Tyr204Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000925 p.Tyr206Asp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000926 p.Asn207Asp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000927 p.Asn207Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000928 p.Pro211Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000929 p.Leu212Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000930 p.Leu213Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000931 p.Cys217Gly Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000932 p.Gly218Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000933 p.Glu221Gly Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000934 p.Asp222Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000935 p.Ile224Met Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000936 p.Pro225Arg Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000937 p.Pro225Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000938 p.Val230Ile Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000939 p.Ser231Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000940 p.Phe233Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000941 p.Thr238Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000942 p.Gly239Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000943 p.Arg241Cys Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000943 p.Arg241Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000944 p.Arg241His Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000945 p.Arg241Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000946 p.Leu242Phe Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000947 p.Arg243Gln Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000947 p.Arg243Gln Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000948 p.Pro244Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000949 p.Val245Ala Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_000949 p.Val245Ala Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000949 p.Val245Ala Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000950 p.Val245Glu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000951 p.Val245Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000952 p.Ala246Asp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000953 p.Gly247Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000954 p.Leu248Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000955 p.Leu249Phe Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000956 p.Arg252Gly Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000957 p.Arg252Gln Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000958 p.Arg252Trp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000959 p.Leu255Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000960 p.Leu255Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000961 p.Gly257Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000962 p.Ala259Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000963 p.Ala259Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000964 p.Arg261Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000965 p.Arg261Gln Disease rs5030849 Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_000965 p.Arg261Gln Disease rs5030849 Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000966 p.Phe263Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000967 p.His264Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000968 p.Cys265Gly Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000969 p.Ile269Leu Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000970 p.Arg270Lys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000971 p.Arg270Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000972 p.His271Tyr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000973 p.Ser273Phe Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000974 p.Met276Ile Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000975 p.Met276Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000976 p.Tyr277Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000977 p.Tyr277Asp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000978 p.Thr278Ala Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000979 p.Thr278Asn Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000980 p.Glu280Lys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000981 p.Pro281Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000982 p.Asp282Asn Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000983 p.Ile283Phe Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000984 p.Ile283Asn Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000985 p.Arg297Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000986 p.Arg297His Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000987 p.Phe299Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000988 p.Ala300Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000989 p.Ala300Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000990 p.Ser303Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000991 p.Gln304Arg Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000992 p.Ile306Val Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_000993 p.Ala309Asp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000994 p.Ala309Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000995 p.Ser310Phe Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000996 p.Leu311Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000997 p.Pro314His Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000998 p.Ala322Gly Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_000999 p.Ala322Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001000 p.Phe331Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001001 p.Leu333Phe Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001002 p.Cys334Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001003 p.Gly337Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001004 p.Asp338Tyr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001005 p.Lys341Arg Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001006 p.Lys341Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001007 p.Ala342Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001008 p.Tyr343Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001009 p.Ala345Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001010 p.Ala345Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001011 p.Leu347Phe Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001012 p.Leu348Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001013 p.Ser349Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001014 p.Ser349Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001015 p.Ser350Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001016 p.Pro362Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001019 p.Pro366His Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001020 p.Thr372Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001021 p.Tyr377Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001022 p.Thr380Met Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001023 p.Tyr386Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001024 p.Tyr387His Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001025 p.Val388Leu Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001026 p.Val388Met Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001027 p.Glu390Gly Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001027 p.Glu390Gly Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001028 p.Asp394Ala Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001029 p.Asp394His Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001030 p.Ala395Gly Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001031 p.Ala395Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001033 p.Ala403Val Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001033 p.Ala403Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001034 p.Arg408Gln Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001035 p.Arg408Trp Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_001035 p.Arg408Trp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001036 p.Arg413Pro Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001036 p.Arg413Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001037 p.Arg413Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001038 p.Tyr414Cys Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_001038 p.Tyr414Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001039 p.Asp415Asn Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_001039 p.Asp415Asn Disease - Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] PAH P00439 VAR_001039 p.Asp415Asn Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001040 p.Thr418Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001041 p.Leu430Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_001042 p.Ala447Asp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009239 p.Gln20Leu Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_009240 p.Leu41Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009241 p.Ser110Cys Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_009242 p.Arg155Pro Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009243 p.Glu183Gln Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009244 p.Ser231Phe Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009245 p.Tyr325Cys Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009246 p.Glu330Asp Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009247 p.Gly344Arg Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009248 p.Gly344Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_009249 p.Phe410Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011566 p.Asp145Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011567 p.Asn167Ser Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_011568 p.Arg169His Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011569 p.His170Asp Disease - Hyperphenylalaninemia (HPA) [MIM:261600] PAH P00439 VAR_011570 p.Ile174Val Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011571 p.Glu205Ala Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011572 p.Phe240Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011573 p.Lys274Glu Polymorphism - - PAH P00439 VAR_011574 p.Ile318Thr Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011575 p.Cys357Gly Disease - Phenylketonuria (PKU) [MIM:261600] PAH P00439 VAR_011576 p.Pro407Ser Disease - Phenylketonuria (PKU) [MIM:261600] PAICS P22234 VAR_051884 p.Lys201Asn Polymorphism rs11549976 - PAK1 Q13153 VAR_051654 p.Leu515Val Polymorphism rs35345144 - PAK3 O75914 VAR_023825 p.Arg67Cys Disease - Mental retardation X-linked type 30 (MRX30) [MIM:300558] PAK3 O75914 VAR_023826 p.Ala380Glu Disease - Mental retardation X-linked type 30 (MRX30) [MIM:300558] PAK3 O75914 VAR_046764 p.Thr440Ser Unclassified - A colorectal adenocarcinoma sample PAK4 O96013 VAR_040970 p.Arg135Gln Polymorphism rs56099436 - PAK4 O96013 VAR_040971 p.Ala139Thr Polymorphism rs35655056 - PAK6 Q9NQU5 VAR_019993 p.Met76Val Polymorphism rs2412504 - PAK6 Q9NQU5 VAR_019994 p.His215Arg Polymorphism rs3743135 - PAK6 Q9NQU5 VAR_019995 p.Pro337Leu Polymorphism rs3743137 - PAK6 Q9NQU5 VAR_035631 p.Arg3His Unclassified - A colorectal cancer sample PAK6 Q9NQU5 VAR_040972 p.Glu184Lys Polymorphism rs56349744 - PAK6 Q9NQU5 VAR_040973 p.Gly205Glu Polymorphism rs55920845 - PAK6 Q9NQU5 VAR_040974 p.Pro208Thr Polymorphism rs35501648 - PAK6 Q9NQU5 VAR_040975 p.Thr210Met Polymorphism rs34869667 - PAK6 Q9NQU5 VAR_040976 p.Ala376Val Polymorphism rs55806501 - PAK6 Q9NQU5 VAR_040977 p.Leu514Arg Unclassified - A lung small cell carcinoma sample PAK6 Q9NQU5 VAR_051655 p.Arg103Cys Polymorphism rs36081263 - PAK6 Q9NQU5 VAR_051656 p.Thr151Ile Polymorphism rs35593179 - PAK6 Q9NQU5 VAR_051657 p.Glu475Lys Polymorphism rs34445577 - PAK7 Q9P286 VAR_021865 p.Ser511Asn Polymorphism rs2297345 - PAK7 Q9P286 VAR_040978 p.Gly118Asp Polymorphism rs55923311 - PAK7 Q9P286 VAR_040979 p.Pro187Ala Polymorphism rs34280805 - PAK7 Q9P286 VAR_040980 p.Ser312Pro Unclassified - A colorectal adenocarcinoma sample PAK7 Q9P286 VAR_040981 p.Arg335Pro Polymorphism rs11700112 - PAK7 Q9P286 VAR_040982 p.Thr538Asn Unclassified - A lung adenocarcinoma sample PAK7 Q9P286 VAR_040983 p.Ala555Ser Polymorphism rs34102290 - PAK7 Q9P286 VAR_040984 p.Val604Ile Unclassified - A metastatic melanoma sample PAK7 Q9P286 VAR_040985 p.Gly704Ser Unclassified - A metastatic melanoma sample PALB2 Q86YC2 VAR_032959 p.Ile309Val Polymorphism rs3809683 - PALB2 Q86YC2 VAR_054150 p.Pro864Ser Polymorphism rs45568339 - PALD1 Q9ULE6 VAR_032076 p.Ser141Leu Polymorphism rs2275060 - PALD1 Q9ULE6 VAR_032077 p.Arg721Cys Polymorphism rs3740447 - PALD1 Q9ULE6 VAR_062188 p.Gly828Arg Polymorphism rs10999406 - PALLD Q8WX93 VAR_034940 p.Met224Ile Polymorphism rs7671781 - PALLD Q8WX93 VAR_059401 p.Met224Thr Polymorphism rs7655494 - PALM3 A6NDB9 VAR_053804 p.Ala440Thr Polymorphism rs11880169 - PALMD Q9NP74 VAR_053805 p.His73Gln Polymorphism rs11802902 - PALMD Q9NP74 VAR_053806 p.Asn229Ser Polymorphism rs35258980 - PALMD Q9NP74 VAR_053807 p.Glu459Asp Polymorphism rs35317701 - PALM O75781 VAR_053803 p.Thr107Ala Polymorphism rs1050457 - PAM16 Q9Y3D7 VAR_013764 p.Gln114Lys Polymorphism rs11989 - PAM P19021 VAR_055694 p.Val49Leu Polymorphism rs2230458 - PAMR1 Q6UXH9 VAR_032335 p.Ala305Thr Polymorphism rs16927482 - PAN2 Q504Q3 VAR_031162 p.Ser32Asn Polymorphism rs11558139 - PAN2 Q504Q3 VAR_031163 p.Ile179Leu Polymorphism rs1918496 - PAN2 Q504Q3 VAR_036359 p.Ala1201Val Unclassified - A colorectal cancer sample PANK2 Q9BZ23 VAR_015152 p.Leu111Gln Polymorphism - - PANK2 Q9BZ23 VAR_015153 p.Gly126Ala Polymorphism rs3737084 - PANK2 Q9BZ23 VAR_015154 p.Gly219Val Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015155 p.Thr234Ala Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015156 p.Arg264Trp Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015157 p.Arg278Cys Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015158 p.Leu282Val Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015159 p.Arg286Cys Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015160 p.Thr327Ile Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015161 p.Ser351Pro Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015162 p.Asn355Ser Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015163 p.Asn404Ile Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015164 p.Leu413Pro Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015165 p.Ser471Asn Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015166 p.Ile497Thr Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015167 p.Asn500Ile Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015168 p.Gly521Arg Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_015169 p.Thr528Met Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_054484 p.Arg94Pro Polymorphism - - PANK2 Q9BZ23 VAR_060934 p.Glu134Gly Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060935 p.Arg249Pro Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060936 p.Arg278Leu Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060937 p.Glu322Asp Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060938 p.Glu322Gly Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060939 p.Arg357Gln Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060940 p.Ala398Thr Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060942 p.Cys428Tyr Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060943 p.Asp447Asn Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060944 p.Ile501Thr Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060945 p.Ala509Val Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060946 p.Asn511Asp Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060947 p.Arg532Trp Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060948 p.Leu563Pro Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK2 Q9BZ23 VAR_060949 p.Pro570Leu Disease - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] PANK4 Q9NVE7 VAR_015170 p.Gln684Arg Polymorphism rs2494620 - PANK4 Q9NVE7 VAR_027409 p.Ala547Val Polymorphism rs7535528 - PANK4 Q9NVE7 VAR_035470 p.Glu475Lys Unclassified - A colorectal cancer sample PANX1 Q96RD7 VAR_016098 p.Gln5His Polymorphism rs1138800 - PANX1 Q96RD7 VAR_031225 p.Ile272Val Polymorphism rs12793348 - PANX2 Q96RD6 VAR_036575 p.Ser147Phe Unclassified - A breast cancer sample PANX3 Q96QZ0 VAR_034367 p.Gly95Arg Polymorphism rs34498516 - PANX3 Q96QZ0 VAR_034368 p.Thr208Ala Polymorphism rs35569094 - PAPD7 Q5XG87 VAR_021175 p.Asn326Ser Polymorphism rs28381415 - PAPD7 Q5XG87 VAR_021176 p.Gly396Ser Polymorphism rs28381418 - PAPLN O95428 VAR_039815 p.Ser33Gly Polymorphism rs2280792 - PAPLN O95428 VAR_039816 p.Ala191Thr Polymorphism rs741842 - PAPLN O95428 VAR_039817 p.Asn356His Polymorphism rs17126331 - PAPLN O95428 VAR_039818 p.Val443Ile Polymorphism rs17126352 - PAPLN O95428 VAR_039819 p.Ala461Val Polymorphism rs17126354 - PAPLN O95428 VAR_039820 p.His628Arg Polymorphism rs17182244 - PAPLN O95428 VAR_039821 p.Gln723His Polymorphism rs2242616 - PAPLN O95428 VAR_039822 p.Gly896Arg Polymorphism rs177386 - PAPLN O95428 VAR_039823 p.Leu1192Val Polymorphism rs2107731 - PAPLN O95428 VAR_039824 p.Thr1201Met Polymorphism rs4903104 - PAPLN O95428 VAR_039825 p.Ser1260Thr Polymorphism rs11626824 - PAPPA2 Q9BXP8 VAR_051595 p.Thr171Ser Polymorphism rs36112782 - PAPPA2 Q9BXP8 VAR_051596 p.Pro1657Arg Polymorphism rs34602579 - PAPPA Q13219 VAR_011419 p.Ser944Arg Polymorphism - - PAPPA Q13219 VAR_018726 p.Ser1224Tyr Polymorphism rs7020782 - PAPPA Q13219 VAR_057091 p.Ser5Ile Polymorphism rs417012 - PAPPA Q13219 VAR_057092 p.Pro325Leu Polymorphism rs445159 - PAPSS1 O43252 VAR_014064 p.Ser587Leu Polymorphism rs1127014 - PAPSS1 O43252 VAR_014065 p.Leu270Phe Polymorphism rs1127008 - PAPSS2 O95340 VAR_022077 p.Val291Met Polymorphism rs45467596 - PAPSS2 O95340 VAR_029136 p.Glu10Lys Polymorphism rs17173698 - PAPSS2 O95340 VAR_029137 p.Met281Leu Polymorphism rs45624631 - PAPSS2 O95340 VAR_029138 p.Arg432Lys Polymorphism - - PAPSS2 O95340 VAR_063049 p.Thr48Arg Disease - Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847] PAQR5 Q9NXK6 VAR_031436 p.Ile24Thr Polymorphism rs17853893 - PAQR7 Q86WK9 VAR_048204 p.Gly272Arg Polymorphism rs6689014 - PAQR7 Q86WK9 VAR_060999 p.Val227Met Polymorphism rs55948644 - PARD3B Q8TEW8 VAR_015664 p.Leu165Pro Polymorphism rs1510765 - PARD3B Q8TEW8 VAR_015665 p.Arg192Lys Polymorphism rs2289025 - PARD3B Q8TEW8 VAR_015666 p.Gln295Lys Polymorphism rs1061522 - PARD3B Q8TEW8 VAR_056642 p.Lys317Arg Polymorphism rs34751010 - PARD3 Q8TEW0 VAR_015663 p.Glu107Asp Polymorphism rs1436731 - PARD3 Q8TEW0 VAR_050453 p.Asp575Asn Polymorphism rs3758459 - PARD6A Q9NPB6 VAR_050454 p.Val286Ile Polymorphism rs35356834 - PARK2 O60260 VAR_019733 p.Val15Met Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019734 p.Arg33Gln Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019735 p.Pro37Leu Disease - Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019736 p.Arg42Pro Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019737 p.Ala46Pro Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019738 p.Ala82Glu Disease rs55774500 Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019738 p.Ala82Glu Disease rs55774500 Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019739 p.Ala92Val Disease - Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019740 p.Gln100His Polymorphism - - PARK2 O60260 VAR_019741 p.Lys161Asn Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019741 p.Lys161Asn Disease - Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019742 p.Ser167Asn Polymorphism rs1801474 - PARK2 O60260 VAR_019743 p.Met192Val Disease rs9456735 Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019744 p.Lys211Asn Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019745 p.Lys211Arg Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019746 p.Cys212Tyr Disease - Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019747 p.Thr240Met Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019748 p.Thr240Arg Disease - Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019749 p.Cys253Tyr Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019750 p.Arg256Cys Disease rs34424986 Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019750 p.Arg256Cys Disease rs34424986 Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019751 p.Arg271Ser Polymorphism - - PARK2 O60260 VAR_019752 p.Arg275Trp Disease rs34424986 Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019752 p.Arg275Trp Disease rs34424986 Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019753 p.Asp280Asn Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019754 p.Gly284Arg Disease - Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019755 p.Cys289Gly Disease rs55961220 Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019756 p.Gly328Glu Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019757 p.Arg334Cys Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019758 p.Ala339Ser Polymorphism - - PARK2 O60260 VAR_019759 p.Thr351Pro Disease - Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019760 p.Arg366Trp Polymorphism rs56092260 - PARK2 O60260 VAR_019761 p.Val380Leu Polymorphism rs1801582 - PARK2 O60260 VAR_019762 p.Asp394Asn Polymorphism rs1801334 - PARK2 O60260 VAR_019763 p.Thr415Asn Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019763 p.Thr415Asn Disease - Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019764 p.Gly430Asp Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019765 p.Cys431Phe Disease - Parkinson disease type 2 (PARK2) [MIM:600116] PARK2 O60260 VAR_019766 p.Pro437Leu Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_019767 p.Cys441Arg Disease - Parkinson disease (PARK) [MIM:168600] PARK2 O60260 VAR_054107 p.Met192Leu Polymorphism rs9456735 - PARK2 O60260 VAR_062672 p.Gln311Arg Unclassified - - PARK2 O60260 VAR_062673 p.Ala371Thr Unclassified - - PARK7 Q99497 VAR_020492 p.Met26Ile Disease - Parkinson disease type 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020493 p.Glu64Asp Disease - Parkinson disease type 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020494 p.Arg98Gln Polymorphism - - PARK7 Q99497 VAR_020495 p.Ala104Thr Disease - Parkinson disease type 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020496 p.Asp149Ala Disease - Parkinson disease type 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020497 p.Gly150Ser Polymorphism - - PARK7 Q99497 VAR_020498 p.Leu166Pro Disease rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324] PARK7 Q99497 VAR_020499 p.Ala171Ser Polymorphism - - PARK7 Q99497 VAR_034801 p.Glu163Lys Polymorphism - - PARL Q9H300 VAR_021578 p.Val262Leu Polymorphism rs3732581 - PARL Q9H300 VAR_029801 p.Ala137Gly Polymorphism rs4912470 - PARM1 Q6UWI2 VAR_062257 p.Ser127Leu Polymorphism rs3822109 - PARP10 Q53GL7 VAR_027859 p.Ile249Val Polymorphism rs11136344 - PARP10 Q53GL7 VAR_027860 p.Leu395Pro Polymorphism rs11136343 - PARP10 Q53GL7 VAR_027861 p.Val630Ala Polymorphism rs11544989 - PARP12 Q9H0J9 VAR_050463 p.Val293Ile Polymorphism rs34111764 - PARP12 Q9H0J9 VAR_050464 p.Val463Met Polymorphism rs35456446 - PARP12 Q9H0J9 VAR_050465 p.Ala620Val Polymorphism rs17161356 - PARP15 Q460N3 VAR_027862 p.Arg315Lys Polymorphism rs6793271 - PARP15 Q460N3 VAR_027863 p.Gly606Arg Polymorphism rs12489170 - PARP15 Q460N3 VAR_056658 p.Ala499Thr Polymorphism rs34383355 - PARP16 Q8N5Y8 VAR_027864 p.Ser280Pro Polymorphism rs17852901 - PARP1 P09874 VAR_014714 p.Ala188Thr Polymorphism rs1805409 - PARP1 P09874 VAR_014715 p.Val762Ala Polymorphism rs1136410 - PARP1 P09874 VAR_019171 p.Val334Ile Polymorphism rs3219057 - PARP1 P09874 VAR_019172 p.Ser383Tyr Polymorphism rs3219062 - PARP1 P09874 VAR_019173 p.Lys940Arg Polymorphism rs3219145 - PARP1 P09874 VAR_035852 p.Glu488Val Unclassified - A breast cancer sample PARP1 P09874 VAR_050460 p.Phe54Leu Polymorphism rs3738708 - PARP1 P09874 VAR_050461 p.Pro377Ser Polymorphism rs2230484 - PARP2 Q9UGN5 VAR_019174 p.Ser161Asn Polymorphism rs3093905 - PARP2 Q9UGN5 VAR_019175 p.Asn168Ser Polymorphism rs3093906 - PARP2 Q9UGN5 VAR_019176 p.Asp235Gly Polymorphism rs3093921 - PARP2 Q9UGN5 VAR_019177 p.Ile285Val Polymorphism rs3093925 - PARP2 Q9UGN5 VAR_019178 p.Arg296Gln Polymorphism rs3093926 - PARP2 Q9UGN5 VAR_050462 p.Ile331Thr Polymorphism rs2275010 - PARP3 Q9Y6F1 VAR_054622 p.His100Arg Polymorphism rs28547534 - PARP3 Q9Y6F1 VAR_056643 p.Ser91Asn Polymorphism rs34224216 - PARP3 Q9Y6F1 VAR_056644 p.Gln269Arg Polymorphism rs323870 - PARP4 Q9UKK3 VAR_016090 p.Gly1265Ala Polymorphism rs1050110 - PARP4 Q9UKK3 VAR_016091 p.Gly1280Arg Polymorphism rs13428 - PARP4 Q9UKK3 VAR_056645 p.Ile81Val Polymorphism rs35200240 - PARP4 Q9UKK3 VAR_056646 p.Ser122Asn Polymorphism rs9578751 - PARP4 Q9UKK3 VAR_056647 p.Phe215Tyr Polymorphism rs9318600 - PARP4 Q9UKK3 VAR_056648 p.Pro792Leu Polymorphism rs4986818 - PARP4 Q9UKK3 VAR_056649 p.Ser873Asn Polymorphism rs7140044 - PARP4 Q9UKK3 VAR_056650 p.Ala899Thr Polymorphism rs2275660 - PARP4 Q9UKK3 VAR_056651 p.Lys991Arg Polymorphism rs34689435 - PARP4 Q9UKK3 VAR_056652 p.Val1012Ile Polymorphism rs9581043 - PARP4 Q9UKK3 VAR_056653 p.Ser1253Thr Polymorphism rs4986822 - PARP8 Q8N3A8 VAR_035853 p.Ser777Ala Unclassified - A colorectal cancer sample PARP9 Q8IXQ6 VAR_056654 p.Ser21Leu Polymorphism rs34006803 - PARP9 Q8IXQ6 VAR_056655 p.Ile517Val Polymorphism rs28365795 - PARP9 Q8IXQ6 VAR_056656 p.Tyr528Cys Polymorphism rs9851180 - PARP9 Q8IXQ6 VAR_056657 p.Thr651Ala Polymorphism rs6780543 - PARPBP Q9NWS1 VAR_031105 p.Val400Met Polymorphism rs12227879 - PARS2 Q7L3T8 VAR_034527 p.Asn235Ser Polymorphism rs2270004 - PARS2 Q7L3T8 VAR_052644 p.Arg28Ser Polymorphism rs11577368 - PARVB Q9HBI1 VAR_017242 p.Val58Ala Polymorphism rs1983609 - PARVB Q9HBI1 VAR_034369 p.Pro52Arg Polymorphism rs34476853 - PASD1 Q8IV76 VAR_034819 p.Gln213Glu Polymorphism rs5924658 - PASK Q96RG2 VAR_028293 p.Val250Ile Polymorphism rs1470414 - PASK Q96RG2 VAR_028294 p.Leu514Ser Polymorphism rs2240543 - PASK Q96RG2 VAR_028295 p.Val694Met Polymorphism rs6727226 - PASK Q96RG2 VAR_028296 p.Gly725Asp Polymorphism rs2005771 - PASK Q96RG2 VAR_028297 p.Val1210Met Polymorphism rs10167000 - PASK Q96RG2 VAR_028298 p.Phe1266Cys Polymorphism rs1131293 - PASK Q96RG2 VAR_040986 p.Glu11Lys Unclassified - A metastatic melanoma sample PASK Q96RG2 VAR_040987 p.Gln426Arg Polymorphism rs35187712 - PASK Q96RG2 VAR_040988 p.Thr512Ala Polymorphism rs56033464 - PASK Q96RG2 VAR_040989 p.Pro684Arg Polymorphism rs56372985 - PASK Q96RG2 VAR_040990 p.Glu796Lys Polymorphism rs35129131 - PASK Q96RG2 VAR_040991 p.Pro844Gln Polymorphism rs36082918 - PASK Q96RG2 VAR_040992 p.Arg937His Polymorphism rs56139954 - PASK Q96RG2 VAR_040993 p.Pro1301Ser Polymorphism - - PATE1 Q8WXA2 VAR_052699 p.Val46Ile Polymorphism rs537916 - PATE1 Q8WXA2 VAR_052700 p.Gln47Arg Polymorphism rs2114084 - PATE3 B3GLJ2 VAR_059884 p.Thr30Lys Polymorphism rs1025165 - PATL2 C9JE40 VAR_064549 p.Met88Leu Polymorphism rs8026845 - PATZ1 Q9HBE1 VAR_052724 p.Glu685Asp Polymorphism rs2240424 - PAWR Q96IZ0 VAR_022465 p.Pro42Leu Polymorphism - - PAWR Q96IZ0 VAR_022466 p.Pro78Arg Polymorphism rs8176805 - PAWR Q96IZ0 VAR_022467 p.Gly137Ala Polymorphism - - PAWR Q96IZ0 VAR_022468 p.Glu202Ala Polymorphism rs8176870 - PAX1 P15863 VAR_003787 p.Gln139His Unclassified - - PAX1 P15863 VAR_055369 p.Thr439Arg Polymorphism rs17861058 - PAX1 P15863 VAR_055370 p.Pro453Leu Polymorphism rs17861059 - PAX1 P15863 VAR_055371 p.Pro504Leu Polymorphism rs17861061 - PAX2 Q02962 VAR_003789 p.Gly76Ser Disease - Renal-coloboma syndrome (RCS) [MIM:120330] PAX2 Q02962 VAR_012443 p.Ala334Val Polymorphism rs78738655 - PAX3 P23760 VAR_003790 p.Phe45Leu Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003791 p.Asn47His Disease - Waardenburg syndrome type 3 (WS3) [MIM:148820] PAX3 P23760 VAR_003792 p.Asn47Lys Disease - Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880] PAX3 P23760 VAR_003793 p.Pro50Leu Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003794 p.Arg56Leu Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003795 p.Ile59Phe Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003796 p.Ile59Asn Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003797 p.Val60Met Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003798 p.Met62Val Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003800 p.Gly81Ala Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003801 p.Ser84Phe Disease - Waardenburg syndrome type 3 (WS3) [MIM:148820] PAX3 P23760 VAR_003802 p.Lys85Glu Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003803 p.Gly99Asp Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003804 p.Phe238Ser Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003805 p.Val265Phe Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003806 p.Arg271Gly Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_003807 p.Thr315Lys Polymorphism rs2234675 - PAX3 P23760 VAR_013619 p.Arg270Cys Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_013619 p.Arg270Cys Disease - Waardenburg syndrome type 3 (WS3) [MIM:148820] PAX3 P23760 VAR_013640 p.Ser73Leu Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_013641 p.Gln391His Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017533 p.Gly48Arg Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017534 p.Val78Met Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017535 p.Tyr90His Disease rs28939096 Waardenburg syndrome type 3 (WS3) [MIM:148820] PAX3 P23760 VAR_017536 p.Trp266Cys Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017537 p.Arg271Cys Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017538 p.Arg271His Disease - Waardenburg syndrome type 1 (WS1) [MIM:193500] PAX3 P23760 VAR_017539 p.Arg273Lys Unclassified - - PAX4 O43316 VAR_054879 p.Arg39Gln Polymorphism - - PAX4 O43316 VAR_054880 p.Arg45Trp Unclassified - - PAX4 O43316 VAR_054881 p.Arg129Trp Unclassified - - PAX4 O43316 VAR_054882 p.Arg141Trp Unclassified - - PAX4 O43316 VAR_054883 p.Arg172Trp Disease - Maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225] PAX4 O43316 VAR_054884 p.Arg191Cys Polymorphism - - PAX4 O43316 VAR_054885 p.Arg200His Polymorphism - - PAX4 O43316 VAR_054886 p.Arg200Ser Polymorphism - - PAX5 Q02548 VAR_034370 p.Ala322Thr Polymorphism rs34810717 - PAX6 P26367 VAR_003808 p.Asn17Ser Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_003809 p.Gly18Trp Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_003810 p.Arg26Gly Disease - Peters anomaly (PAN) [MIM:604229] PAX6 P26367 VAR_003811 p.Ile29Val Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_003812 p.Arg44Gln Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_003813 p.Ile87Arg Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_003814 p.Arg128Cys Disease - Foveal hypoplasia (FOVHYP) [MIM:136520] PAX6 P26367 VAR_003815 p.Gln178His Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_003816 p.Arg208Trp Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008694 p.Ile29Ser Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008695 p.Ala33Pro Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008697 p.Ile42Ser Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008698 p.Ser43Pro Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008699 p.Val53Leu Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008700 p.Val53Asp Disease - Peters anomaly (PAN) [MIM:604229] PAX6 P26367 VAR_008701 p.Thr63Pro Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008702 p.Gly64Val Disease - Foveal hypoplasia (FOVHYP) [MIM:136520] PAX6 P26367 VAR_008703 p.Ala79Glu Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008704 p.Ser119Arg Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008705 p.Val126Asp Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008706 p.Arg208Gln Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008707 p.Ser353Ala Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_008708 p.Gln422Arg Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_015065 p.Pro118Arg Unclassified - - PAX6 P26367 VAR_015066 p.Pro375Gln Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_017540 p.Pro68Ser Unclassified - - PAX6 P26367 VAR_017541 p.Arg125Cys Disease - Foveal hypoplasia (FOVHYP) [MIM:136520] PAX6 P26367 VAR_017542 p.Phe258Ser Disease - Coloboma of iris choroid and retina (COI) [MIM:120200] PAX6 P26367 VAR_017543 p.Ser292Ile Disease - Bilateral optic nerve hypoplasia (BONH) [MIM:165550] PAX6 P26367 VAR_017544 p.Ser363Pro Disease - Peters anomaly (PAN) [MIM:604229] PAX6 P26367 VAR_017545 p.Gln378Arg Unclassified - - PAX6 P26367 VAR_017546 p.Met381Val Disease - Bilateral optic nerve hypoplasia (BONH) [MIM:165550] PAX6 P26367 VAR_017547 p.Thr391Ala Disease - Bilateral optic nerve hypoplasia (BONH) [MIM:165550] PAX6 P26367 VAR_047860 p.Arg19Pro Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_047861 p.Leu46Arg Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_047862 p.Cys52Arg Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_047863 p.Ile56Thr Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_047864 p.Gly73Asp Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_047865 p.Ile87Lys Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_047866 p.Arg242Thr Disease - Aniridia (AN) [MIM:106210] PAX6 P26367 VAR_047867 p.Ala321Thr Unclassified - - PAX6 P26367 VAR_047868 p.Gly387Asp Polymorphism - - PAX8 Q06710 VAR_012769 p.Arg31His Disease - Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700] PAX8 Q06710 VAR_012770 p.Gln40Pro Disease - Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700] PAX8 Q06710 VAR_012771 p.Cys57Tyr Disease - Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700] PAX8 Q06710 VAR_012772 p.Leu62Arg Disease - Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700] PAX8 Q06710 VAR_012773 p.Phe329Leu Polymorphism rs3188996 - PAX9 P55771 VAR_015698 p.Gly51Ser Disease - Tooth agenesis selective type 3 (STHAG3) [MIM:604625] PAX9 P55771 VAR_034371 p.Ala240Pro Polymorphism rs4904210 - PAXIP1 Q6ZW49 VAR_034627 p.Met1013Val Polymorphism rs3501 - PBK Q96KB5 VAR_021162 p.Asn107Ser Polymorphism rs3779620 - PBK Q96KB5 VAR_041234 p.Met241Leu Polymorphism rs36086402 - PBK Q96KB5 VAR_051676 p.Glu220Asp Polymorphism rs17057901 - PBLD P30039 VAR_022684 p.Arg17Cys Polymorphism rs12359690 - PBLD P30039 VAR_022685 p.His257Arg Polymorphism rs4142048 - PBOV1 Q9GZY1 VAR_059707 p.Ile73Thr Polymorphism rs6927706 - PBRM1 Q86U86 VAR_064653 p.Val49Leu Unclassified - - PBRM1 Q86U86 VAR_064654 p.Thr56Ala Unclassified - - PBRM1 Q86U86 VAR_064656 p.Arg66Gly Unclassified - - PBRM1 Q86U86 VAR_064657 p.Gln90Glu Unclassified - - PBRM1 Q86U86 VAR_064658 p.Tyr144Phe Unclassified - - PBRM1 Q86U86 VAR_064659 p.Glu160Ala Unclassified - - PBRM1 Q86U86 VAR_064660 p.Arg202Cys Unclassified - - PBRM1 Q86U86 VAR_064661 p.Glu206Lys Unclassified - - PBRM1 Q86U86 VAR_064662 p.Glu226Gly Unclassified - - PBRM1 Q86U86 VAR_064663 p.Ile228Val Unclassified - - PBRM1 Q86U86 VAR_064664 p.Thr232Pro Unclassified - - PBRM1 Q86U86 VAR_064665 p.Ile233Thr Unclassified - - PBRM1 Q86U86 VAR_064666 p.Ala256Thr Unclassified - - PBRM1 Q86U86 VAR_064667 p.Gly340Ala Unclassified - - PBRM1 Q86U86 VAR_064668 p.Met523Ile Unclassified - - PBRM1 Q86U86 VAR_064669 p.Arg540Ser Unclassified - - PBRM1 Q86U86 VAR_064670 p.Ala597Asp Unclassified - - PBRM1 Q86U86 VAR_064671 p.Lys621Glu Unclassified - - PBRM1 Q86U86 VAR_064672 p.Lys661Asn Unclassified - - PBRM1 Q86U86 VAR_064673 p.Asp674Glu Unclassified - - PBRM1 Q86U86 VAR_064674 p.Arg678Cys Polymorphism - - PBRM1 Q86U86 VAR_064675 p.Tyr893Cys Unclassified - - PBRM1 Q86U86 VAR_064676 p.Thr895Ser Unclassified - - PBRM1 Q86U86 VAR_064677 p.Glu922Gln Unclassified - - PBRM1 Q86U86 VAR_064678 p.Lys925Gln Unclassified - - PBRM1 Q86U86 VAR_064679 p.Pro1079Tyr Unclassified - - PBRM1 Q86U86 VAR_064680 p.Ala1098Ser Unclassified - - PBRM1 Q86U86 VAR_064681 p.Arg1120Gln Unclassified - - PBRM1 Q86U86 VAR_064682 p.Gly1177Ser Unclassified - - PBRM1 Q86U86 VAR_064683 p.His1204Pro Unclassified - - PBRM1 Q86U86 VAR_064685 p.Glu1287Gln Unclassified - - PBRM1 Q86U86 VAR_064686 p.Gly1414Glu Unclassified - - PBRM1 Q86U86 VAR_064687 p.Gly1503Cys Unclassified - - PBRM1 Q86U86 VAR_064688 p.Gln1560His Unclassified - - PBRM1 Q86U86 VAR_064689 p.Ile1614Asn Unclassified - - PBRM1 Q86U86 VAR_064690 p.Arg1647Cys Unclassified - - PBX4 Q9BYU1 VAR_036439 p.Thr283Met Unclassified - A colorectal cancer sample PBX4 Q9BYU1 VAR_059355 p.Val169Ile Polymorphism rs8108180 - PBX4 Q9BYU1 VAR_059356 p.Met177Val Polymorphism rs8108981 - PBXIP1 Q96AQ6 VAR_035265 p.Gly357Asp Polymorphism rs2061690 - PBXIP1 Q96AQ6 VAR_051263 p.Gly356Asp Polymorphism rs2061690 - PCBD1 P61457 VAR_005527 p.Thr79Ile Unclassified - - PCBD1 P61457 VAR_005528 p.Cys82Arg Disease - BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070] PCBD1 P61457 VAR_005529 p.Arg88Gln Disease - BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070] PCBD1 P61457 VAR_005530 p.Glu97Lys Disease - BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070] PCBP4 P57723 VAR_049681 p.Gly198Ser Polymorphism rs323872 - PCCA P05165 VAR_009087 p.Ala75Pro Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009088 p.Arg77Trp Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009089 p.Ala138Thr Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009090 p.Ile164Thr Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009091 p.Met229Lys Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009092 p.Gln297Arg Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009093 p.Asp368Gly Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009094 p.Met373Lys Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009095 p.Gly379Val Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009096 p.Arg399Gln Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009097 p.Pro423Leu Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009098 p.Ile475Val Polymorphism rs35719359 - PCCA P05165 VAR_009099 p.Trp559Leu Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009100 p.Gly631Arg Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_009101 p.Gly668Arg Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_023843 p.Gly197Glu Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_023844 p.Cys398Arg Disease - Propionic acidemia type I (PA-1) [MIM:606054] PCCA P05165 VAR_023846 p.Val551Phe Polymorphism - - PCCB P05166 VAR_000271 p.Arg44Pro Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000272 p.Ser106Arg Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000273 p.Gly131Arg Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000274 p.Arg165Trp Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000275 p.Glu168Lys Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000276 p.Gly198Asp Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000278 p.Arg410Trp Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000279 p.Ala497Val Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000280 p.Arg512Cys Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_000281 p.Leu519Pro Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009080 p.Leu17Met Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009082 p.Val205Asp Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009083 p.Pro228Leu Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009084 p.Thr428Ile Disease rs28934887 Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009085 p.Met442Thr Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_009086 p.Asn536Asp Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023847 p.Arg67Ser Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023848 p.Val107Met Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023849 p.Gly112Asp Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023850 p.Ala153Pro Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023851 p.Arg165Gln Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023852 p.Gly188Arg Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023853 p.Gly246Val Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023855 p.Ile430Leu Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023856 p.Tyr435Cys Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023857 p.Tyr439Cys Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_023858 p.Ala468Thr Disease - Propionic acidemia type II (PA-2) [MIM:606054] PCCB P05166 VAR_048163 p.Pro287Ser Polymorphism rs2228310 - PCDH11X Q9BZA7 VAR_036109 p.Asp42Gly Unclassified - A colorectal cancer sample PCDH11X Q9BZA7 VAR_048575 p.Arg1018Gln Polymorphism rs4252205 - PCDH11Y Q9BZA8 VAR_026020 p.Val917Phe Polymorphism rs2524543 - PCDH11Y Q9BZA8 VAR_026021 p.Asn1012Lys Polymorphism rs2563389 - PCDH11Y Q9BZA8 VAR_048576 p.Ala1320Thr Polymorphism rs2556900 - PCDH12 Q9NPG4 VAR_020368 p.His385Asn Polymorphism rs164075 - PCDH12 Q9NPG4 VAR_020369 p.Ser640Asn Polymorphism rs164515 - PCDH15 Q96QU1 VAR_024035 p.Arg134Gly Disease - Deafness autosomal recessive type 23 (DFNB23) [MIM:609533] PCDH15 Q96QU1 VAR_024036 p.Gly262Asp Disease - Deafness autosomal recessive type 23 (DFNB23) [MIM:609533] PCDH15 Q96QU1 VAR_024037 p.Gln1342Lys Disease - Usher syndrome type 1F (USH1F) [MIM:602083] PCDH15 Q96QU1 VAR_028289 p.Ser19Ala Polymorphism rs11004439 - PCDH15 Q96QU1 VAR_028290 p.Gly380Ser Polymorphism rs10825269 - PCDH15 Q96QU1 VAR_028291 p.Asp435Ala Polymorphism rs4935502 - PCDH15 Q96QU1 VAR_028292 p.Arg929Gln Polymorphism rs2135720 - PCDH19 Q8TAB3 VAR_046484 p.Val441Glu Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_046485 p.Asn557Lys Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064481 p.Asp121Asn Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064482 p.Glu199Gln Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064483 p.His203Pro Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064484 p.Phe206Cys Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064485 p.Ser276Pro Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064486 p.Asn340Ser Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064487 p.Asp377His Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064488 p.Thr404Ile Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064489 p.Glu414Gln Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064490 p.Leu543Pro Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064491 p.Arg958Gln Polymorphism - - PCDH19 Q8TAB3 VAR_064492 p.Arg1107Gly Polymorphism - - PCDH19 Q8TAB3 VAR_064840 p.Leu81Arg Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064842 p.Thr146Arg Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064843 p.Phe206Tyr Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064844 p.Glu249Asp Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064845 p.Asp341Glu Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064846 p.Pro561Arg Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064847 p.Pro567Leu Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH19 Q8TAB3 VAR_064848 p.Asp618Asn Disease - Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] PCDH1 Q08174 VAR_047530 p.Leu15Phe Polymorphism rs12517385 - PCDH1 Q08174 VAR_047531 p.His25Pro Polymorphism rs12515587 - PCDH1 Q08174 VAR_047532 p.Ala514Thr Polymorphism rs3822357 - PCDH20 Q8N6Y1 VAR_036111 p.Val496Met Unclassified - A breast cancer sample PCDH8 O95206 VAR_017171 p.Trp7Arg Polymorphism rs3742301 - PCDH8 O95206 VAR_017172 p.Glu39Ala Polymorphism rs5030683 - PCDH8 O95206 VAR_017173 p.Val743Ala Polymorphism rs5030685 - PCDH8 O95206 VAR_036108 p.Lys956Asn Unclassified - A breast cancer sample PCDH8 O95206 VAR_059191 p.Thr367Ala Polymorphism rs9596693 - PCDHA10 Q9Y5I2 VAR_048535 p.Ser439Arg Polymorphism rs251362 - PCDHA10 Q9Y5I2 VAR_048536 p.Val585Gly Polymorphism rs251364 - PCDHA10 Q9Y5I2 VAR_048537 p.Thr639Ala Polymorphism rs630162 - PCDHA11 Q9Y5I1 VAR_048538 p.Ser199Tyr Polymorphism rs10071369 - PCDHA11 Q9Y5I1 VAR_048539 p.Trp418Ser Polymorphism rs17119218 - PCDHA1 Q9Y5I3 VAR_021872 p.Asn449His Polymorphism rs3733712 - PCDHA1 Q9Y5I3 VAR_021873 p.Tyr732Cys Polymorphism rs2240696 - PCDHA1 Q9Y5I3 VAR_048521 p.Arg360Gly Polymorphism rs34575154 - PCDHA1 Q9Y5I3 VAR_048522 p.Cys759Phe Polymorphism rs2240695 - PCDHA2 Q9Y5H9 VAR_024389 p.Val106Leu Polymorphism rs11167600 - PCDHA2 Q9Y5H9 VAR_048523 p.Pro764Leu Polymorphism rs6858913 - PCDHA2 Q9Y5H9 VAR_059179 p.Glu25Lys Polymorphism rs9686540 - PCDHA3 Q9Y5H8 VAR_021874 p.Ile318Val Polymorphism rs3733708 - PCDHA3 Q9Y5H8 VAR_021875 p.Cys759Tyr Polymorphism rs2240694 - PCDHA3 Q9Y5H8 VAR_048524 p.Ile289Thr Polymorphism rs3733709 - PCDHA3 Q9Y5H8 VAR_048525 p.Ser440Ile Polymorphism rs7701755 - PCDHA3 Q9Y5H8 VAR_061060 p.Pro61Gln Polymorphism rs7731327 - PCDHA4 Q9UN74 VAR_024390 p.Pro184Ser Polymorphism rs3822346 - PCDHA4 Q9UN74 VAR_059180 p.Glu55Asp Polymorphism rs11167605 - PCDHA5 Q9Y5H7 VAR_048526 p.Ala691Val Polymorphism rs4141841 - PCDHA6 Q9UN73 VAR_061061 p.Leu585Val Polymorphism rs60309716 - PCDHA7 Q9UN72 VAR_048527 p.Arg138Lys Polymorphism rs10067182 - PCDHA7 Q9UN72 VAR_048528 p.Ala663Gly Polymorphism rs6880234 - PCDHA8 Q9Y5H6 VAR_021876 p.Ser78Asn Polymorphism rs3756331 - PCDHA8 Q9Y5H6 VAR_021877 p.Asn403Thr Polymorphism rs3733706 - PCDHA8 Q9Y5H6 VAR_048529 p.Pro269Arg Polymorphism rs525886 - PCDHA8 Q9Y5H6 VAR_059181 p.Lys579Glu Polymorphism rs6580012 - PCDHA9 Q9Y5H5 VAR_048530 p.Ser28Arg Polymorphism rs251353 - PCDHA9 Q9Y5H5 VAR_048531 p.Lys138Arg Polymorphism rs364101 - PCDHA9 Q9Y5H5 VAR_048532 p.Leu336Val Polymorphism rs251354 - PCDHA9 Q9Y5H5 VAR_048533 p.Gly430Arg Polymorphism rs251355 - PCDHA9 Q9Y5H5 VAR_048534 p.Lys764Thr Polymorphism rs369639 - PCDHA9 Q9Y5H5 VAR_059182 p.Lys764Gln Polymorphism rs369636 - PCDHA9 Q9Y5H5 VAR_061062 p.Phe64Leu Polymorphism rs56926451 - PCDHA9 Q9Y5H5 VAR_061063 p.Glu501Gln Polymorphism rs59056023 - PCDHAC1 Q9H158 VAR_048540 p.Leu498Val Polymorphism rs246074 - PCDHB11 Q9Y5F2 VAR_021881 p.Gln4Arg Polymorphism rs3756323 - PCDHB11 Q9Y5F2 VAR_048553 p.Arg7His Polymorphism rs917535 - PCDHB11 Q9Y5F2 VAR_059188 p.Asp528Glu Polymorphism rs799834 - PCDHB12 Q9Y5F1 VAR_033710 p.Thr420Ile Polymorphism rs2910327 - PCDHB12 Q9Y5F1 VAR_048554 p.Lys763Glu Polymorphism rs2910006 - PCDHB13 Q9Y5F0 VAR_059189 p.Arg471Gly Polymorphism rs2910329 - PCDHB15 Q9Y5E8 VAR_019633 p.Ser474Arg Polymorphism rs618506 - PCDHB15 Q9Y5E8 VAR_019634 p.Arg494Gln Polymorphism rs618096 - PCDHB15 Q9Y5E8 VAR_036106 p.Ala719Val Unclassified - A breast cancer sample PCDHB15 Q9Y5E8 VAR_036107 p.Gly758Val Unclassified - A breast cancer sample PCDHB16 Q9NRJ7 VAR_026478 p.Arg525Gln Polymorphism rs17844651 - PCDHB16 Q9NRJ7 VAR_026479 p.Ser532Gly Polymorphism rs2697532 - PCDHB16 Q9NRJ7 VAR_055587 p.Asp91Glu Polymorphism rs17096969 - PCDHB16 Q9NRJ7 VAR_061068 p.Val347Leu Polymorphism rs28664170 - PCDHB16 Q9NRJ7 VAR_061069 p.Ala508Thr Polymorphism rs56327450 - PCDHB1 Q9Y5F3 VAR_048541 p.Phe385Leu Polymorphism rs2233591 - PCDHB1 Q9Y5F3 VAR_048542 p.Leu390Phe Polymorphism rs2233592 - PCDHB1 Q9Y5F3 VAR_048543 p.Ala524Val Polymorphism rs17208383 - PCDHB1 Q9Y5F3 VAR_048544 p.Thr611Ile Polymorphism rs10476822 - PCDHB1 Q9Y5F3 VAR_048545 p.Ile712Thr Polymorphism rs31738 - PCDHB1 Q9Y5F3 VAR_048546 p.Lys719Ile Polymorphism rs2233595 - PCDHB1 Q9Y5F3 VAR_048547 p.Phe778Leu Polymorphism rs246679 - PCDHB2 Q9Y5E7 VAR_020365 p.Val128Ile Polymorphism rs31853 - PCDHB2 Q9Y5E7 VAR_033701 p.Leu674Pro Polymorphism rs384081 - PCDHB2 Q9Y5E7 VAR_033702 p.Gly760Asp Polymorphism rs1047372 - PCDHB3 Q9Y5E6 VAR_020366 p.Arg414Ser Polymorphism rs3733699 - PCDHB3 Q9Y5E6 VAR_024391 p.Lys41Arg Polymorphism rs31849 - PCDHB3 Q9Y5E6 VAR_033703 p.Glu207Lys Polymorphism rs12515688 - PCDHB4 Q9Y5E5 VAR_021878 p.Ala421Thr Polymorphism rs3776099 - PCDHB4 Q9Y5E5 VAR_048548 p.Lys168Arg Polymorphism rs34350292 - PCDHB4 Q9Y5E5 VAR_048549 p.Pro255Leu Polymorphism rs3733697 - PCDHB4 Q9Y5E5 VAR_048550 p.Pro255Ser Polymorphism rs3733698 - PCDHB4 Q9Y5E5 VAR_048551 p.Thr553Ala Polymorphism rs246669 - PCDHB5 Q9Y5E4 VAR_033704 p.Ile156Thr Polymorphism rs17096901 - PCDHB5 Q9Y5E4 VAR_048552 p.Ser720Pro Polymorphism rs400562 - PCDHB6 Q9Y5E3 VAR_021879 p.Val231Ile Polymorphism rs3776096 - PCDHB6 Q9Y5E3 VAR_033705 p.Leu232Phe Polymorphism rs10076554 - PCDHB6 Q9Y5E3 VAR_033706 p.His636Gln Polymorphism rs246703 - PCDHB6 Q9Y5E3 VAR_033707 p.Tyr747His Polymorphism rs17685621 - PCDHB7 Q9Y5E2 VAR_020367 p.Val389Leu Polymorphism rs2910313 - PCDHB7 Q9Y5E2 VAR_033708 p.Glu120Lys Polymorphism rs17286891 - PCDHB7 Q9Y5E2 VAR_033709 p.Glu187Lys Polymorphism rs17096946 - PCDHB7 Q9Y5E2 VAR_059183 p.Pro575Leu Polymorphism rs13189280 - PCDHB7 Q9Y5E2 VAR_059184 p.Leu576Val Polymorphism rs13174866 - PCDHB7 Q9Y5E2 VAR_059185 p.Arg716Trp Polymorphism rs2910314 - PCDHB8 Q9UN66 VAR_021880 p.Lys305Glu Polymorphism rs3733694 - PCDHB8 Q9UN66 VAR_024392 p.Ala322Val Polymorphism rs7700833 - PCDHB8 Q9UN66 VAR_024393 p.Phe767Leu Polymorphism rs2740583 - PCDHB8 Q9UN66 VAR_031619 p.Lys199Asn Polymorphism rs2950845 - PCDHB8 Q9UN66 VAR_031620 p.Glu244Gln Polymorphism rs2950844 - PCDHB8 Q9UN66 VAR_055581 p.Glu232Gly Polymorphism rs17096954 - PCDHB8 Q9UN66 VAR_055582 p.Ile382Thr Polymorphism rs3733693 - PCDHB8 Q9UN66 VAR_055583 p.Gln639His Polymorphism rs2740582 - PCDHB8 Q9UN66 VAR_055584 p.Leu661Val Polymorphism rs2697541 - PCDHB8 Q9UN66 VAR_055585 p.Ser745Asn Polymorphism rs17096961 - PCDHB8 Q9UN66 VAR_055586 p.Gly759Val Polymorphism rs35245446 - PCDHB9 Q9Y5E1 VAR_059186 p.Ser174Pro Polymorphism rs11167742 - PCDHB9 Q9Y5E1 VAR_059187 p.Ala239Val Polymorphism rs11167743 - PCDHB9 Q9Y5E1 VAR_061064 p.Arg124Ser Polymorphism rs2740588 - PCDHB9 Q9Y5E1 VAR_061065 p.Ser185Gly Polymorphism rs17844512 - PCDHB9 Q9Y5E1 VAR_061066 p.Lys414Glu Polymorphism rs10040383 - PCDHB9 Q9Y5E1 VAR_061067 p.Leu426Met Polymorphism rs2697530 - PCDHGA10 Q9Y5H3 VAR_048566 p.Ile89Val Polymorphism rs4912751 - PCDHGA10 Q9Y5H3 VAR_048567 p.Ser796Pro Polymorphism rs11575963 - PCDHGA11 Q9Y5H2 VAR_033711 p.Phe104Leu Polymorphism rs11167744 - PCDHGA1 Q9Y5H4 VAR_021882 p.Val152Ile Polymorphism rs2472647 - PCDHGA1 Q9Y5H4 VAR_048555 p.His282Gln Polymorphism rs17097185 - PCDHGA2 Q9Y5H1 VAR_048556 p.Gln5Arg Polymorphism rs6878145 - PCDHGA3 Q9Y5H0 VAR_055588 p.Pro79Ser Polymorphism rs11575947 - PCDHGA3 Q9Y5H0 VAR_055589 p.Ile154Leu Polymorphism rs11575948 - PCDHGA3 Q9Y5H0 VAR_059190 p.Ala743Val Polymorphism rs7736541 - PCDHGA4 Q9Y5G9 VAR_048557 p.Ala150Thr Polymorphism rs11575949 - PCDHGA4 Q9Y5G9 VAR_048558 p.Arg641Lys Polymorphism rs4329068 - PCDHGA4 Q9Y5G9 VAR_048559 p.Asp683His Polymorphism rs11575951 - PCDHGA6 Q9Y5G7 VAR_048560 p.Arg248Ser Polymorphism rs11575953 - PCDHGA7 Q9Y5G6 VAR_048561 p.Glu188Gly Polymorphism rs2072315 - PCDHGA7 Q9Y5G6 VAR_048562 p.Leu212Phe Polymorphism rs2240698 - PCDHGA7 Q9Y5G6 VAR_048563 p.Thr239Met Polymorphism rs17097251 - PCDHGA8 Q9Y5G5 VAR_048564 p.Leu16Arg Polymorphism rs726684 - PCDHGA8 Q9Y5G5 VAR_061070 p.Asn187Lys Polymorphism rs11575958 - PCDHGA9 Q9Y5G4 VAR_048565 p.Leu791Phe Polymorphism rs17097274 - PCDHGB2 Q9Y5G2 VAR_048568 p.Pro26Arg Polymorphism rs17097231 - PCDHGB2 Q9Y5G2 VAR_061071 p.Val58Ile Polymorphism rs13171859 - PCDHGB2 Q9Y5G2 VAR_061072 p.Lys687Glu Polymorphism rs57735633 - PCDHGB3 Q9Y5G1 VAR_048569 p.Phe20Tyr Polymorphism rs6860590 - PCDHGB3 Q9Y5G1 VAR_048570 p.Asn389Lys Polymorphism rs2240697 - PCDHGB3 Q9Y5G1 VAR_061073 p.Val28Ala Polymorphism rs6860609 - PCDHGB5 Q9Y5G0 VAR_048571 p.Gly188Ser Polymorphism rs6867460 - PCDHGB6 Q9Y5F9 VAR_021883 p.Pro684Ser Polymorphism rs3749768 - PCDHGB6 Q9Y5F9 VAR_021884 p.Ala722Thr Polymorphism rs3749767 - PCDHGB6 Q9Y5F9 VAR_048572 p.Ser775Ala Polymorphism rs6891442 - PCDHGB7 Q9Y5F8 VAR_048573 p.Val405Leu Polymorphism rs17208397 - PCDHGC5 Q9Y5F6 VAR_024394 p.Asp570Gly Polymorphism rs2074912 - PCDHGC5 Q9Y5F6 VAR_048574 p.Gly275Ser Polymorphism rs2233603 - PCDP1 Q4G0U5 VAR_039232 p.Val637Ile Polymorphism rs2272058 - PCDP1 Q4G0U5 VAR_039233 p.Met795Ile Polymorphism rs11686014 - PCED1A Q9H1Q7 VAR_021945 p.Gln22His Polymorphism rs2274670 - PCED1B Q96HM7 VAR_042761 p.Pro429Ala Polymorphism rs2543737 - PCF11 O94913 VAR_036878 p.Gln651His Polymorphism rs7935175 - PCF11 O94913 VAR_036879 p.His1119Tyr Polymorphism rs17513642 - PCF11 O94913 VAR_036880 p.Glu1402Lys Polymorphism rs11233510 - PCK1 P35558 VAR_015575 p.Ile267Val Polymorphism rs8192708 - PCK1 P35558 VAR_021072 p.Arg55Gln Polymorphism rs28383585 - PCK1 P35558 VAR_021073 p.Met60Thr Polymorphism rs28383586 - PCK1 P35558 VAR_021074 p.Thr138Ile Polymorphism rs28359542 - PCK1 P35558 VAR_021075 p.Val184Leu Polymorphism rs707555 - PCK1 P35558 VAR_021076 p.Glu276Lys Polymorphism rs11552145 - PCK1 P35558 VAR_021077 p.Val368Ile Polymorphism rs1804160 - PCK1 P35558 VAR_021078 p.Pro427Ser Polymorphism rs28359550 - PCK1 P35558 VAR_042444 p.Glu586Asp Polymorphism rs1042529 - PCK2 Q16822 VAR_042445 p.Arg31Gln Polymorphism rs2229660 - PCK2 Q16822 VAR_042446 p.Asp64Asn Polymorphism rs10132601 - PCK2 Q16822 VAR_042447 p.Gly406Ser Polymorphism rs17101262 - PCK2 Q16822 VAR_056662 p.Arg521His Polymorphism rs35618680 - PCLO Q9Y6V0 VAR_056959 p.Thr2602Pro Polymorphism rs10261848 - PCLO Q9Y6V0 VAR_056960 p.Ala2735Thr Polymorphism rs976714 - PCM1 Q15154 VAR_030164 p.Ser159Asn Polymorphism rs412750 - PCM1 Q15154 VAR_030165 p.Ala176Asp Polymorphism rs2285302 - PCM1 Q15154 VAR_030166 p.Met597Val Polymorphism rs208753 - PCM1 Q15154 VAR_030167 p.Ala691Ser Polymorphism rs17635381 - PCM1 Q15154 VAR_030168 p.Gly871Val Polymorphism rs7009117 - PCM1 Q15154 VAR_030169 p.Arg1251His Polymorphism rs17514547 - PCM1 Q15154 VAR_030170 p.Thr1543Ile Polymorphism rs370429 - PCM1 Q15154 VAR_047381 p.Ser600Pro Polymorphism rs34325017 - PCM1 Q15154 VAR_047382 p.Glu1326Asp Polymorphism rs34932823 - PCM1 Q15154 VAR_047383 p.Lys1701Asn Polymorphism rs36113670 - PCM1 Q15154 VAR_047384 p.Asn1865Asp Polymorphism rs35789133 - PCM1 Q15154 VAR_062172 p.Ser159Arg Polymorphism rs412750 - PCMT1 P22061 VAR_006173 p.Val120Ile Polymorphism rs4816 - PCMTD1 Q96MG8 VAR_060401 p.Asn312Ile Polymorphism rs12335014 - PCNT O95613 VAR_043878 p.Thr539Ile Polymorphism rs2249060 - PCNT O95613 VAR_043879 p.Gly704Glu Polymorphism rs2839223 - PCNT O95613 VAR_043880 p.Thr879Ala Polymorphism rs2839227 - PCNT O95613 VAR_043881 p.Val1038Ala Polymorphism rs6518289 - PCNT O95613 VAR_043882 p.Arg1163Cys Polymorphism rs7279204 - PCNT O95613 VAR_043883 p.Ala1194Thr Polymorphism rs35044802 - PCNT O95613 VAR_043884 p.Ile1639Val Polymorphism rs6518291 - PCNT O95613 VAR_043885 p.Asn1841Ser Polymorphism rs35940413 - PCNT O95613 VAR_043886 p.Arg1953His Polymorphism rs34268261 - PCNT O95613 VAR_043887 p.Arg1960Gln Polymorphism rs34813667 - PCNT O95613 VAR_043888 p.Leu2097Pro Polymorphism rs2839245 - PCNT O95613 VAR_043889 p.His2125Pro Polymorphism rs35978208 - PCNT O95613 VAR_043890 p.Met2188Arg Polymorphism rs1044998 - PCNT O95613 VAR_043891 p.Ser2191Pro Polymorphism rs34151633 - PCNT O95613 VAR_056961 p.Trp2239Arg Polymorphism rs35346764 - PCNT O95613 VAR_056962 p.Pro2274Leu Polymorphism rs2070425 - PCNT O95613 VAR_056963 p.Pro2329Arg Polymorphism rs35848602 - PCNT O95613 VAR_056964 p.Gln2361Arg Polymorphism rs7277175 - PCNT O95613 VAR_056965 p.Ala2549Thr Polymorphism rs2839256 - PCNT O95613 VAR_056966 p.Arg2625Gln Polymorphism rs8131693 - PCNT O95613 VAR_056967 p.Gln2659His Polymorphism rs2070426 - PCNT O95613 VAR_056968 p.Arg2753His Polymorphism rs743346 - PCNT O95613 VAR_056969 p.Gln2792Arg Polymorphism rs2073376 - PCNT O95613 VAR_056970 p.Ala2903Thr Polymorphism rs35147998 - PCNT O95613 VAR_056971 p.Leu2975Pro Polymorphism rs35881595 - PCNT O95613 VAR_056972 p.Ser3091Gly Polymorphism rs4818842 - PCNT O95613 VAR_056973 p.Arg3245Ser Polymorphism rs2073380 - PCNXL2 A6NKB5 VAR_043341 p.Thr454Ala Polymorphism rs10910120 - PCNXL2 A6NKB5 VAR_050479 p.Arg117Lys Polymorphism rs1033325 - PCNXL2 A6NKB5 VAR_061498 p.Ser1901Asn Polymorphism rs56231757 - PCNXL2 A6NKB5 VAR_061499 p.Arg1984Gln Polymorphism rs41309639 - PCNXL3 Q9H6A9 VAR_042889 p.Gln258Arg Polymorphism rs1151489 - PCNXL3 Q9H6A9 VAR_042890 p.Ser458Cys Polymorphism rs1193851 - PCNXL3 Q9H6A9 VAR_042891 p.Lys813Asn Polymorphism rs1144790 - PCNXL3 Q9H6A9 VAR_061500 p.Gly564Ser Polymorphism rs56232198 - PCNXL3 Q9H6A9 VAR_061501 p.His1822Gln Polymorphism rs7114037 - PCNXL4 Q63HM2 VAR_028745 p.Gln770His Polymorphism rs3742642 - PCNXL4 Q63HM2 VAR_028746 p.Asp811Tyr Polymorphism rs12895606 - PCNXL4 Q63HM2 VAR_028747 p.Gly1000Ser Polymorphism rs167437 - PCNX Q96RV3 VAR_028305 p.Leu809Ile Polymorphism rs11625687 - PCNX Q96RV3 VAR_028306 p.Leu814Ile Polymorphism rs11625690 - PCNX Q96RV3 VAR_050478 p.Ala594Thr Polymorphism rs34222509 - PCOLCE2 Q9UKZ9 VAR_022448 p.Pro292Thr Polymorphism rs17554211 - PCOLCE2 Q9UKZ9 VAR_051264 p.Val280Ala Polymorphism rs35692900 - PC P11498 VAR_008095 p.Ala610Thr Disease rs28940589 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_008096 p.Met743Ile Disease rs28940590 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_015199 p.Val145Ala Disease rs28940591 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_015200 p.Arg451Cys Disease - Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_048416 p.His76Leu Polymorphism rs7104156 - PC P11498 VAR_058957 p.Arg156Gln Disease - Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_058958 p.Arg270Trp Disease - Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_058959 p.Tyr304Cys Disease - Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_058960 p.Arg583Leu Disease - Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PC P11498 VAR_058961 p.Arg631Gln Disease - Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] PCSK1N Q9UHG2 VAR_028971 p.Ala31Thr Polymorphism rs11538176 - PCSK1 P29120 VAR_013906 p.Arg80Gln Polymorphism rs1799904 - PCSK1 P29120 VAR_013907 p.Asn221Asp Polymorphism rs6232 - PCSK1 P29120 VAR_013908 p.Gln665Glu Polymorphism rs6234 - PCSK1 P29120 VAR_013909 p.Ser690Thr Polymorphism rs6235 - PCSK1 P29120 VAR_022778 p.Gly483Arg Disease - Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955] PCSK1 P29120 VAR_055002 p.Ser307Leu Disease - Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955] PCSK2 P16519 VAR_036548 p.Asp424Asn Unclassified - A colorectal cancer sample PCSK4 Q6UW60 VAR_061772 p.Thr267Met Polymorphism rs36123574 - PCSK6 P29122 VAR_051824 p.Cys502Arg Polymorphism rs1058260 - PCSK7 Q16549 VAR_044419 p.Leu688Val Polymorphism rs608620 - PCSK7 Q16549 VAR_044420 p.Ser689Asn Polymorphism rs45539233 - PCSK7 Q16549 VAR_044421 p.Arg700Met Polymorphism rs45574931 - PCSK7 Q16549 VAR_044422 p.His708Tyr Polymorphism rs473131 - PCSK7 Q16549 VAR_044423 p.Arg711Gln Polymorphism rs473093 - PCSK9 Q8NBP7 VAR_017197 p.Arg46Leu Polymorphism rs11591147 - PCSK9 Q8NBP7 VAR_017198 p.Ala53Val Polymorphism rs11583680 - PCSK9 Q8NBP7 VAR_017199 p.Ser127Arg Disease rs28942111 Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] PCSK9 Q8NBP7 VAR_017200 p.Phe216Leu Disease rs28942112 Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] PCSK9 Q8NBP7 VAR_017201 p.Gly670Glu Polymorphism rs505151 - PCSK9 Q8NBP7 VAR_021337 p.Asn425Ser Polymorphism rs28362261 - PCSK9 Q8NBP7 VAR_021338 p.Ala443Thr Polymorphism rs28362263 - PCSK9 Q8NBP7 VAR_021339 p.Val474Ile Polymorphism rs562556 - PCSK9 Q8NBP7 VAR_021340 p.His553Arg Polymorphism rs28362270 - PCSK9 Q8NBP7 VAR_021341 p.Gln619Pro Polymorphism rs28362277 - PCSK9 Q8NBP7 VAR_025451 p.Glu57Lys Polymorphism - - PCSK9 Q8NBP7 VAR_025452 p.Arg237Trp Polymorphism - - PCSK9 Q8NBP7 VAR_025453 p.Leu253Phe Polymorphism rs28362270 - PCSK9 Q8NBP7 VAR_025454 p.His391Asn Polymorphism - - PCSK9 Q8NBP7 VAR_025455 p.His417Gln Polymorphism - - PCSK9 Q8NBP7 VAR_025456 p.Arg469Trp Polymorphism - - PCSK9 Q8NBP7 VAR_025457 p.Glu482Gly Polymorphism - - PCSK9 Q8NBP7 VAR_025458 p.Phe515Leu Polymorphism - - PCSK9 Q8NBP7 VAR_025459 p.Gln554Glu Polymorphism - - PCSK9 Q8NBP7 VAR_058520 p.Thr77Ile Polymorphism - - PCSK9 Q8NBP7 VAR_058521 p.Arg93Cys Polymorphism - - PCSK9 Q8NBP7 VAR_058522 p.Gly106Arg Polymorphism - - PCSK9 Q8NBP7 VAR_058523 p.Val114Ala Polymorphism - - PCSK9 Q8NBP7 VAR_058524 p.Asp129Gly Disease - Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] PCSK9 Q8NBP7 VAR_058525 p.Asn157Lys Polymorphism - - PCSK9 Q8NBP7 VAR_058526 p.Arg215His Disease - Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] PCSK9 Q8NBP7 VAR_058527 p.Arg218Ser Disease - Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] PCSK9 Q8NBP7 VAR_058528 p.Gln219Glu Polymorphism - - PCSK9 Q8NBP7 VAR_058529 p.Ala239Asp Polymorphism - - PCSK9 Q8NBP7 VAR_058530 p.Arg357His Disease - Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] PCSK9 Q8NBP7 VAR_058531 p.Asp374His Disease - Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] PCSK9 Q8NBP7 VAR_058532 p.Asp374Tyr Disease - Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] PCSK9 Q8NBP7 VAR_058533 p.Gly452Asp Polymorphism - - PCSK9 Q8NBP7 VAR_058534 p.Arg496Trp Disease - Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] PCSK9 Q8NBP7 VAR_058535 p.Ala522Thr Polymorphism - - PCSK9 Q8NBP7 VAR_058536 p.Pro616Leu Polymorphism - - PCSK9 Q8NBP7 VAR_058537 p.Ser668Arg Polymorphism - - PCTP Q9UKL6 VAR_052070 p.Glu10Ala Polymorphism rs12941739 - PCYOX1L Q8NBM8 VAR_031110 p.Ala5Pro Polymorphism rs2291814 - PCYOX1L Q8NBM8 VAR_031111 p.Glu390Asp Polymorphism rs4705336 - PCYOX1L Q8NBM8 VAR_050472 p.Ala316Thr Polymorphism rs35552800 - PCYOX1 Q9UHG3 VAR_050469 p.Ser149Phe Polymorphism rs2706762 - PCYOX1 Q9UHG3 VAR_050470 p.Thr414Ser Polymorphism rs17005441 - PCYOX1 Q9UHG3 VAR_050471 p.Ser465Gly Polymorphism rs34041544 - PDCD10 Q9BUL8 VAR_023578 p.Asp102Ala Polymorphism rs1129087 - PDCD11 Q14690 VAR_014930 p.Asp1871Ala Polymorphism rs7831 - PDCD11 Q14690 VAR_031669 p.Ala623Ser Polymorphism rs11598673 - PDCD11 Q14690 VAR_031670 p.Leu1216Phe Polymorphism rs2986014 - PDCD11 Q14690 VAR_054485 p.Ser397Asn Polymorphism rs7074814 - PDCD11 Q14690 VAR_054486 p.Ala780Ser Polymorphism rs11591914 - PDCD11 Q14690 VAR_054487 p.Pro1453Ser Polymorphism rs2274289 - PDCD1LG2 Q9BQ51 VAR_022449 p.Phe229Ser Polymorphism rs7854303 - PDCD1LG2 Q9BQ51 VAR_049842 p.Ser58Thr Polymorphism rs12339171 - PDCD1LG2 Q9BQ51 VAR_049843 p.Ile241Thr Polymorphism rs7854413 - PDCD1 Q15116 VAR_031685 p.Ala215Val Polymorphism rs2227982 - PDCD4 Q53EL6 VAR_028901 p.Ile36Val Polymorphism rs7081726 - PDCD4 Q53EL6 VAR_028902 p.Ser48Tyr Polymorphism rs11548765 - PDCD4 Q53EL6 VAR_036375 p.Gly120Arg Unclassified - A breast cancer sample PDCD6IP Q8WUM4 VAR_024381 p.Ser730Leu Polymorphism rs1127732 - PDCD6IP Q8WUM4 VAR_053017 p.Ala309Thr Polymorphism rs3792594 - PDCD6IP Q8WUM4 VAR_053018 p.Val378Ile Polymorphism rs3203777 - PDCD6IP Q8WUM4 VAR_053019 p.Asn550Ser Polymorphism rs9813017 - PDCD6IP Q8WUM4 VAR_053020 p.Lys638Glu Polymorphism rs3183982 - PDCD6 O75340 VAR_035459 p.Gly123Cys Unclassified - A breast cancer sample PDCL Q13371 VAR_050525 p.Lys218Asn Polymorphism rs4466466 - PDE10A Q9Y233 VAR_008797 p.Leu303Pro Polymorphism - - PDE10A Q9Y233 VAR_047822 p.Arg706Lys Polymorphism rs2224252 - PDE10A Q9Y233 VAR_047823 p.Asp707Asn Polymorphism rs2860112 - PDE11A Q9HCR9 VAR_027056 p.Arg804His Polymorphism - - PDE11A Q9HCR9 VAR_027057 p.Arg867Gly Polymorphism - - PDE12 Q6L8Q7 VAR_039698 p.Arg23Trp Polymorphism rs2241988 - PDE2A O00408 VAR_024170 p.Thr224Ile Polymorphism rs341047 - PDE3A Q14432 VAR_059543 p.Asp12Asn Polymorphism rs12305038 - PDE3B Q13370 VAR_031462 p.Ala87Val Polymorphism rs1056584 - PDE4A P27815 VAR_059544 p.Ala736Glu Polymorphism rs1051738 - PDE4A P27815 VAR_059545 p.His808Tyr Polymorphism rs2230190 - PDE4B Q07343 VAR_034373 p.Ser703Cys Polymorphism rs2227297 - PDE4C Q08493 VAR_034374 p.Arg344Gln Polymorphism rs2229228 - PDE4C Q08493 VAR_050473 p.Ser131Leu Polymorphism rs10413646 - PDE4C Q08493 VAR_050474 p.Arg289Gln Polymorphism rs34503849 - PDE4C Q08493 VAR_061497 p.Arg344Trp Polymorphism rs11879710 - PDE4DIP Q5VU43 VAR_036627 p.Asn13Ser Polymorphism rs3010980 - PDE4DIP Q5VU43 VAR_036628 p.Arg25Leu Polymorphism rs1664022 - PDE4DIP Q5VU43 VAR_036629 p.Ile49Thr Polymorphism rs573724 - PDE4DIP Q5VU43 VAR_036630 p.Ala167Thr Polymorphism rs2590120 - PDE4DIP Q5VU43 VAR_051204 p.Arg171Lys Polymorphism rs3121544 - PDE4DIP Q5VU43 VAR_051205 p.Glu391Ala Polymorphism rs1324366 - PDE4DIP Q5VU43 VAR_051206 p.Glu410Val Polymorphism rs17425009 - PDE4DIP Q5VU43 VAR_051207 p.His482Arg Polymorphism rs1698681 - PDE4DIP Q5VU43 VAR_051208 p.Arg681His Polymorphism rs1629011 - PDE4DIP Q5VU43 VAR_051209 p.Cys708Arg Polymorphism rs1628172 - PDE4DIP Q5VU43 VAR_051210 p.Phe1013Ile Polymorphism rs1698624 - PDE4DIP Q5VU43 VAR_051211 p.Ala1066Thr Polymorphism rs1698647 - PDE4DIP Q5VU43 VAR_051212 p.Lys1359Glu Polymorphism rs1747958 - PDE4DIP Q5VU43 VAR_051213 p.Val1736Glu Polymorphism rs1778159 - PDE4DIP Q5VU43 VAR_051214 p.Ala1742Ser Polymorphism rs1698605 - PDE4DIP Q5VU43 VAR_056951 p.Lys143Glu Polymorphism rs1747958 - PDE4DIP Q5VU43 VAR_056952 p.Asn150Ser Polymorphism rs3010980 - PDE5A O76074 VAR_027775 p.Ala93Val Polymorphism rs3733526 - PDE5A O76074 VAR_027776 p.Ser181Ala Polymorphism rs17051276 - PDE6A P16499 VAR_006049 p.Ser344Arg Disease - Retinitis pigmentosa type 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025460 p.Arg102His Disease - Retinitis pigmentosa type 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025461 p.Arg102Ser Disease - Retinitis pigmentosa type 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025462 p.Asn216Ser Polymorphism rs10057110 - PDE6A P16499 VAR_025463 p.Val277Ala Polymorphism - - PDE6A P16499 VAR_025464 p.Pro293Leu Polymorphism - - PDE6A P16499 VAR_025465 p.Val391Met Polymorphism - - PDE6A P16499 VAR_025466 p.Gln569Lys Disease - Retinitis pigmentosa type 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025467 p.Ser573Pro Disease - Retinitis pigmentosa type 43 (RP43) [MIM:613810] PDE6A P16499 VAR_025468 p.Lys827Gln Polymorphism - - PDE6A P16499 VAR_025469 p.Gly850Val Polymorphism - - PDE6A P16499 VAR_047730 p.Ala145Thr Polymorphism rs35431421 - PDE6A P16499 VAR_047731 p.Gln492His Polymorphism rs17711594 - PDE6B P35913 VAR_006050 p.His557Tyr Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_006051 p.Gly576Asp Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_006052 p.Leu699Arg Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009283 p.Arg74Cys Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009284 p.Glu166Lys Polymorphism - - PDE6B P35913 VAR_009285 p.Tyr212His Polymorphism - - PDE6B P35913 VAR_009286 p.Tyr219His Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009287 p.Leu228His Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009288 p.Leu228Ile Polymorphism - - PDE6B P35913 VAR_009289 p.His258Asn Disease - Congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500] PDE6B P35913 VAR_009290 p.Leu527Pro Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009291 p.Ile535Asn Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009292 p.Arg552Gln Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_009293 p.Leu854Arg Disease - Retinitis pigmentosa type 40 (RP40) [MIM:613801] PDE6B P35913 VAR_054868 p.Val320Ile Polymorphism rs10902758 - PDE6B P35913 VAR_054869 p.Glu654Asp Polymorphism rs17849286 - PDE6C P51160 VAR_025470 p.Asp157Glu Polymorphism - - PDE6C P51160 VAR_025471 p.Lys822Asn Polymorphism - - PDE6C P51160 VAR_025472 p.Glu834Gly Polymorphism - - PDE6C P51160 VAR_050475 p.Ser270Thr Polymorphism rs701865 - PDE6C P51160 VAR_050476 p.Glu699Ala Polymorphism rs12261131 - PDE6C P51160 VAR_062408 p.Arg29Trp Disease - Cone dystrophy type 4 (COD4) [MIM:613093] PDE6C P51160 VAR_062409 p.Tyr323Asn Disease - Cone dystrophy type 4 (COD4) [MIM:613093] PDE6C P51160 VAR_062410 p.Met455Val Disease - Cone dystrophy type 4 (COD4) [MIM:613093] PDE6C P51160 VAR_064744 p.Ile826Ser Unclassified - - PDE6G P18545 VAR_009294 p.Pro27His Polymorphism - - PDE7A Q13946 VAR_056661 p.Gly76Glu Polymorphism rs11557049 - PDF Q9HBH1 VAR_060122 p.Trp11Arg Polymorphism rs8057004 - PDGFB P01127 VAR_014578 p.Ile88Val Polymorphism rs17565 - PDGFD Q9GZP0 VAR_036418 p.Asp202Tyr Unclassified - A colorectal cancer sample PDGFD Q9GZP0 VAR_051563 p.Ile190Val Polymorphism rs35045740 - PDGFRA P16234 VAR_034378 p.Ser478Pro Polymorphism rs35597368 - PDGFRA P16234 VAR_042032 p.Gly79Asp Polymorphism rs36035373 - PDGFRA P16234 VAR_042033 p.Gly426Asp Polymorphism rs55865821 - PDGFRA P16234 VAR_042034 p.Arg764Cys Polymorphism rs34392012 - PDGFRA P16234 VAR_042035 p.Gly829Arg Unclassified - A glioblastoma multiforme sample PDGFRA P16234 VAR_042036 p.Glu996Lys Unclassified - A metastatic melanoma sample PDGFRA P16234 VAR_042037 p.Asp1071Asn Unclassified - A lung neuroendocrine carcinoma sample PDGFRB P09619 VAR_034377 p.Ile29Phe Polymorphism rs17110944 - PDGFRB P09619 VAR_035125 p.Ser180Phe Polymorphism rs17853027 - PDGFRB P09619 VAR_042027 p.Glu282Lys Polymorphism rs34586048 - PDGFRB P09619 VAR_042028 p.Glu485Lys Polymorphism rs41287110 - PDGFRB P09619 VAR_042029 p.Tyr589His Unclassified - A gastric adenocarcinoma sample PDGFRB P09619 VAR_042030 p.Asn718Tyr Polymorphism rs35322465 - PDGFRB P09619 VAR_042031 p.Thr882Ile Unclassified - A breast infiltrating ductal carcinoma sample PDGFRB P09619 VAR_049717 p.Pro345Ser Polymorphism rs2229558 - PDGFRL Q15198 VAR_026052 p.His23Tyr Disease - Colorectal cancer (CRC) [MIM:114500] PDHA1 P08559 VAR_004949 p.Arg72Cys Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004950 p.His113Asp Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004951 p.Gly162Arg Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004952 p.Val167Met Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004953 p.Ala199Thr Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004954 p.Phe205Leu Disease - X-linked Leigh syndrome (X-LS) [MIM:308930] PDHA1 P08559 VAR_004955 p.Met210Val Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004956 p.Pro217Leu Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004957 p.Thr231Ala Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004958 p.Asp258Ala Disease - X-linked Leigh syndrome (X-LS) [MIM:308930] PDHA1 P08559 VAR_004959 p.Arg263Gly Disease rs28936081 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004959 p.Arg263Gly Disease rs28936081 X-linked Leigh syndrome (X-LS) [MIM:308930] PDHA1 P08559 VAR_004960 p.Arg263Gln Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004961 p.His292Leu Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004962 p.Arg302Cys Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004963 p.Arg302His Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_004966 p.Arg378His Disease - X-linked Leigh syndrome (X-LS) [MIM:308930] PDHA1 P08559 VAR_010238 p.Arg10Pro Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_021053 p.Tyr243Asn Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_021054 p.Met282Leu Polymorphism rs2229137 - PDHA1 P08559 VAR_021055 p.Arg288His Disease - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_021056 p.Asp315Asn Disease rs28935187 Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] PDHA1 P08559 VAR_050436 p.Glu333Asp Polymorphism rs2228067 - PDHA2 P29803 VAR_034358 p.Met280Leu Polymorphism rs2229137 - PDHA2 P29803 VAR_034359 p.Arg376Gly Polymorphism rs17024795 - PDHB P11177 VAR_004967 p.Leu31Val Polymorphism - - PDHB P11177 VAR_021058 p.Pro344Ser Disease rs28933391 Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] PDHB P11177 VAR_030954 p.Tyr132Cys Disease rs28935769 Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] PDHX O00330 VAR_046619 p.Arg23Cys Polymorphism rs1049306 - PDHX O00330 VAR_046620 p.Thr101Ala Polymorphism rs11539202 - PDHX O00330 VAR_046621 p.Asp370Val Polymorphism rs17850649 - PDIA2 Q13087 VAR_048087 p.Pro39Ser Polymorphism rs45455191 - PDIA2 Q13087 VAR_048088 p.Thr119Arg Polymorphism rs45614840 - PDIA2 Q13087 VAR_048089 p.Glu185Lys Polymorphism rs419949 - PDIA2 Q13087 VAR_048090 p.Thr286Met Polymorphism rs2685127 - PDIA2 Q13087 VAR_048091 p.Pro382Ala Polymorphism rs45529833 - PDIA2 Q13087 VAR_048092 p.Arg388Gln Polymorphism rs400037 - PDIA2 Q13087 VAR_048093 p.Pro502Ser Polymorphism rs1048786 - PDIA3 P30101 VAR_020027 p.Lys415Arg Polymorphism rs6413485 - PDIA4 P13667 VAR_052580 p.Thr173Met Polymorphism rs2290971 - PDIA5 Q14554 VAR_052581 p.Thr391Met Polymorphism rs2292661 - PDIA6 Q15084 VAR_022152 p.Lys214Arg Polymorphism rs4807 - PDILT Q8N807 VAR_039937 p.Ala26Thr Polymorphism rs9926580 - PDILT Q8N807 VAR_039938 p.Glu106Gln Unclassified - A colorectal cancer sample PDILT Q8N807 VAR_039939 p.Asp446Asn Polymorphism rs11648131 - PDILT Q8N807 VAR_039940 p.Val447Ile Polymorphism rs11865916 - PDILT Q8N807 VAR_039941 p.Leu475Arg Polymorphism rs4500734 - PDILT Q8N807 VAR_039942 p.Arg527Lys Polymorphism rs9652589 - PDILT Q8N807 VAR_039943 p.Gly529Glu Polymorphism rs9652588 - PDK1 Q15118 VAR_042295 p.Asn412Thr Polymorphism rs34250425 - PDK1 Q15118 VAR_050477 p.Ala134Thr Polymorphism rs35661499 - PDK2 Q15119 VAR_042296 p.Gly342Arg Unclassified rs17855787 A glioblastoma multiforme sample PDK3 Q15120 VAR_042297 p.Glu219Ala Unclassified - A head & Neck squamous cell carcinoma sample PDK4 Q16654 VAR_042298 p.Ala17Val Polymorphism rs56391840 - PDK4 Q16654 VAR_042299 p.Leu19Met Polymorphism rs55761955 - PDK4 Q16654 VAR_042300 p.Asp109Gly Polymorphism rs34898343 - PDLIM1 O00151 VAR_022271 p.Asn175Ser Polymorphism rs2296961 - PDLIM3 Q53GG5 VAR_050166 p.Val127Met Polymorphism rs11944325 - PDLIM4 P50479 VAR_035205 p.Arg118Gly Polymorphism rs17851430 - PDLIM4 P50479 VAR_035206 p.Val184Ile Polymorphism rs175218 - PDLIM4 P50479 VAR_035207 p.Gly259Cys Polymorphism rs4877 - PDLIM4 P50479 VAR_050167 p.Arg142Cys Polymorphism rs1050805 - PDLIM5 Q96HC4 VAR_023779 p.Ser136Phe Polymorphism rs2452600 - PDLIM5 Q96HC4 VAR_046662 p.Ser319Leu Polymorphism rs1064238 - PDLIM5 Q96HC4 VAR_046663 p.Ala345Thr Polymorphism rs966845 - PDLIM5 Q96HC4 VAR_046664 p.Thr381Ala Polymorphism rs7690296 - PDLIM5 Q96HC4 VAR_046665 p.Pro388Ser Polymorphism rs7690464 - PDLIM5 Q96HC4 VAR_046666 p.Ser492Asn Polymorphism rs13107595 - PDLIM7 Q9NR12 VAR_036193 p.Lys450Asn Unclassified - A breast cancer sample PDLIM7 Q9NR12 VAR_050168 p.Ala326Thr Polymorphism rs2306764 - PDPN Q86YL7 VAR_028015 p.Ala105Gly Polymorphism rs2486188 - PDPN Q86YL7 VAR_028016 p.Ala147Gly Polymorphism rs2486188 - PDPR Q8NCN5 VAR_042504 p.Tyr109His Polymorphism rs2549532 - PDSS1 Q5T2R2 VAR_034879 p.Asp308Glu Disease - Coenzyme Q10 deficiency, primary, type 2 (COQ10D2) [MIM:614651] PDSS2 Q86YH6 VAR_049645 p.Phe3Leu Polymorphism rs3734675 - PDSS2 Q86YH6 VAR_055398 p.Ser382Leu Disease - Coenzyme Q10 deficiency, primary, type 3 (COQ10D3) [MIM:614652] PDX1 P52945 VAR_009309 p.Cys18Arg Disease - Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392] PDX1 P52945 VAR_009310 p.Gln59Leu Disease - Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392] PDX1 P52945 VAR_009311 p.Asp76Asn Unclassified - - PDX1 P52945 VAR_009312 p.Arg197His Disease - Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392] PDXDC1 Q6P996 VAR_059252 p.Pro301Leu Polymorphism rs4985162 - PDXDC2P Q6P474 VAR_037159 p.Met209Val Polymorphism rs3169319 - PDXDC2P Q6P474 VAR_037160 p.Leu429Phe Polymorphism rs11648231 - PDXDC2P Q6P474 VAR_037161 p.Leu429Arg Polymorphism rs929843 - PDYN P01213 VAR_064913 p.Arg138Ser Disease - Spinocerebellar ataxia type 23 (SCA23) [MIM:610245] PDYN P01213 VAR_064914 p.Leu211Ser Disease - Spinocerebellar ataxia type 23 (SCA23) [MIM:610245] PDYN P01213 VAR_064915 p.Arg212Trp Disease - Spinocerebellar ataxia type 23 (SCA23) [MIM:610245] PDYN P01213 VAR_064916 p.Arg215Cys Disease - Spinocerebellar ataxia type 23 (SCA23) [MIM:610245] PDZD2 O15018 VAR_031654 p.Gln1258Lys Polymorphism rs3101878 - PDZD2 O15018 VAR_031655 p.Thr1274Ala Polymorphism rs157496 - PDZD2 O15018 VAR_031656 p.Asp1343Glu Polymorphism rs12520467 - PDZD2 O15018 VAR_031657 p.Thr1425Met Polymorphism rs36097367 - PDZD2 O15018 VAR_031658 p.Ala1649Val Polymorphism rs3101873 - PDZD2 O15018 VAR_031659 p.Arg2247Gln Polymorphism rs10066063 - PDZD2 O15018 VAR_061691 p.Glu1178Gly Polymorphism rs57158698 - PDZD4 Q76G19 VAR_035952 p.Arg39Cys Unclassified - A breast cancer sample PDZD8 Q8NEN9 VAR_051265 p.Val806Ala Polymorphism rs35664484 - PDZD8 Q8NEN9 VAR_051266 p.Arg897Gln Polymorphism rs363294 - PDZRN3 Q9UPQ7 VAR_020965 p.Ala783Val Polymorphism rs3205537 - PDZRN4 Q6ZMN7 VAR_020966 p.Gly429Ser Polymorphism rs285584 - PDZRN4 Q6ZMN7 VAR_035951 p.Gly784Arg Unclassified - A colorectal cancer sample PEAK1 Q9H792 VAR_041817 p.Gly213Arg Polymorphism rs35459975 - PEAK1 Q9H792 VAR_041818 p.Val240Ile Polymorphism rs56129428 - PEAK1 Q9H792 VAR_041819 p.Ser440Pro Polymorphism rs35335169 - PEAK1 Q9H792 VAR_041820 p.His611Gln Unclassified - A bladder carcinoma NOS sample PEAK1 Q9H792 VAR_041821 p.Ser792Ile Polymorphism rs34885462 - PEAK1 Q9H792 VAR_041822 p.Asp836Glu Polymorphism rs56388121 - PEAK1 Q9H792 VAR_041823 p.Ser1035Phe Unclassified - A metastatic melanoma sample PEAK1 Q9H792 VAR_041824 p.Arg1071Lys Polymorphism rs12909704 - PEAK1 Q9H792 VAR_041825 p.Thr1077Pro Polymorphism rs56133554 - PEAK1 Q9H792 VAR_041826 p.Pro1145Leu Unclassified - A metastatic melanoma sample PEAK1 Q9H792 VAR_041827 p.Pro1408Gln Polymorphism rs56079860 - PEAK1 Q9H792 VAR_041828 p.Ser1542Thr Polymorphism rs1867780 - PEAK1 Q9H792 VAR_041829 p.Arg1699Gly Polymorphism rs34004337 - PEAR1 Q5VY43 VAR_048978 p.Ser234Pro Polymorphism rs1952294 - PEAR1 Q5VY43 VAR_048979 p.Arg885His Polymorphism rs11264581 - PEAR1 Q5VY43 VAR_048980 p.Asn903Asp Polymorphism rs12137505 - PEAR1 Q5VY43 VAR_061158 p.Asn848Lys Polymorphism rs822442 - PEBP1 P30086 VAR_006048 p.Ser9Asn Polymorphism - - PEBP4 Q96S96 VAR_050467 p.Lys125Glu Polymorphism rs1129474 - PEBP4 Q96S96 VAR_050468 p.Glu211Gly Polymorphism rs1047406 - PECAM1 P16284 VAR_013145 p.Leu125Val Polymorphism rs668 - PECAM1 P16284 VAR_059402 p.Cys304Tyr Polymorphism rs7209607 - PECAM1 P16284 VAR_059403 p.Ser563Ile Polymorphism rs12953 - PECAM1 P16284 VAR_059404 p.Ser563Asn Polymorphism rs12953 - PECAM1 P16284 VAR_059405 p.Arg670Gly Polymorphism rs1131012 - PECR Q9BY49 VAR_021535 p.Glu149Lys Polymorphism rs1429148 - PECR Q9BY49 VAR_021536 p.Phe297Leu Polymorphism rs9288513 - PEG3 Q9GZU2 VAR_027397 p.Ala235Thr Polymorphism rs2191432 - PEG3 Q9GZU2 VAR_027398 p.Val839Leu Polymorphism rs7251798 - PEG3 Q9GZU2 VAR_027399 p.Asp983Gly Polymorphism rs10412932 - PEG3 Q9GZU2 VAR_027400 p.Arg1576Leu Polymorphism - - PEG3 Q9GZU2 VAR_035562 p.Arg594His Unclassified - A colorectal cancer sample PEG3 Q9GZU2 VAR_052725 p.Glu624Gly Polymorphism rs36016896 - PEG3 Q9GZU2 VAR_052726 p.Asn947Ser Polymorphism rs35851866 - PEG3 Q9GZU2 VAR_052727 p.Ala1456Val Polymorphism rs34831553 - PEG3 Q9GZU2 VAR_052728 p.Arg1576His Polymorphism rs34051133 - PELI3 Q8N2H9 VAR_061502 p.Val287Met Polymorphism rs34989499 - PELO Q9BRX2 VAR_019777 p.Leu221Met Polymorphism rs1499280 - PELP1 Q8IZL8 VAR_027766 p.Thr1126Ser Polymorphism rs9436 - PEMT Q9UBM1 VAR_016093 p.Val175Met Polymorphism rs7946 - PEMT Q9UBM1 VAR_032771 p.Val58Ile Polymorphism rs897453 - PEMT Q9UBM1 VAR_055372 p.Arg3Trp Polymorphism - - PEMT Q9UBM1 VAR_055373 p.Gly194Arg Polymorphism - - PEMT Q9UBM1 VAR_060083 p.Val58Leu Polymorphism rs897453 - PENK P01210 VAR_014584 p.Gly247Asp Polymorphism rs1800567 - PENK P01210 VAR_048935 p.Thr83Asn Polymorphism rs11998459 - PEO1 Q96RR1 VAR_023647 p.Arg303Trp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023648 p.Trp315Leu Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023649 p.Lys319Glu Disease - Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] PEO1 Q96RR1 VAR_023650 p.Lys319Thr Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023651 p.Arg334Gln Polymorphism rs28937887 - PEO1 Q96RR1 VAR_023652 p.Pro335Leu Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023653 p.Arg354Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023654 p.Ala359Thr Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023655 p.Ile367Thr Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023656 p.Val368Ile Polymorphism rs17113613 - PEO1 Q96RR1 VAR_023657 p.Ser369Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023658 p.Ser369Tyr Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023659 p.Arg374Gln Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023660 p.Leu381Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023661 p.Trp474Cys Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_023662 p.Ala475Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_039045 p.Thr457Ile Disease - Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245] PEO1 Q96RR1 VAR_043797 p.Tyr508Cys Disease - Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245] PEO1 Q96RR1 VAR_051267 p.Glu427Gly Polymorphism rs11542126 - PEO1 Q96RR1 VAR_062268 p.Gly348Arg Polymorphism - - PEO1 Q96RR1 VAR_062269 p.Asn634Lys Polymorphism - - PEO1 Q96RR1 VAR_065102 p.Arg303Gln Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065103 p.Trp315Ser Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065104 p.Ala318Thr Disease - Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245] PEO1 Q96RR1 VAR_065105 p.Arg334Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065106 p.Arg357Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065107 p.Leu360Gly Disease - Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245] PEO1 Q96RR1 VAR_065108 p.Ala362Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065109 p.Trp363Leu Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065110 p.Phe370Cys Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065111 p.Phe370Leu Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065112 p.Ser426Asn Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065113 p.Gln458His Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065114 p.Ala460Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065115 p.Trp474Ser Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065116 p.Ala475Asp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065117 p.Phe478Ile Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEO1 Q96RR1 VAR_065118 p.Glu479Lys Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] PEPD P12955 VAR_004404 p.Asp276Asn Disease - Prolidase deficiency (PD) [MIM:170100] PEPD P12955 VAR_004405 p.Gly448Arg Disease - Prolidase deficiency (PD) [MIM:170100] PEPD P12955 VAR_011614 p.Arg184Gln Disease - Prolidase deficiency (PD) [MIM:170100] PEPD P12955 VAR_011615 p.Gly278Asp Disease - Prolidase deficiency (PD) [MIM:170100] PEPD P12955 VAR_014723 p.Leu435Phe Polymorphism rs17570 - PEPD P12955 VAR_051574 p.Arg388His Polymorphism rs2230062 - PER1 O15534 VAR_036038 p.Glu696Gln Unclassified - A breast cancer sample PER1 O15534 VAR_036039 p.Asn985Ser Unclassified - A breast cancer sample PER1 O15534 VAR_036040 p.Ser1060Leu Unclassified - A colorectal cancer sample PER1 O15534 VAR_047899 p.Ala962Pro Polymorphism rs2585405 - PER1 O15534 VAR_047900 p.Arg968His Polymorphism rs3027193 - PER2 O15055 VAR_024558 p.Gly1244Glu Polymorphism rs934945 - PER2 O15055 VAR_029080 p.Ser662Gly Disease - Familial advanced sleep-phase syndrome (FASPS) [MIM:604348] PER2 O15055 VAR_036041 p.Leu823Val Unclassified - A breast cancer sample PER2 O15055 VAR_051575 p.Ala5Ser Polymorphism rs35572922 - PER2 O15055 VAR_051576 p.Val729Ile Polymorphism rs4429421 - PER2 O15055 VAR_051577 p.Val903Ile Polymorphism rs35333999 - PER2 O15055 VAR_051578 p.Phe949Tyr Polymorphism rs35998480 - PER3 P56645 VAR_015514 p.Pro856Ala Polymorphism rs228697 - PER3 P56645 VAR_022428 p.Leu827Pro Polymorphism rs228696 - PER3 P56645 VAR_025532 p.Val639Gly Polymorphism rs10462020 - PER3 P56645 VAR_025533 p.Met1028Thr Polymorphism rs2640909 - PER3 P56645 VAR_025534 p.His1149Arg Polymorphism rs10462021 - PER3 P56645 VAR_028728 p.Ala1007Thr Polymorphism rs1776342 - PER3 P56645 VAR_028729 p.Thr1010Ile Polymorphism rs12033719 - PER3 P56645 VAR_028730 p.Ser1081Cys Polymorphism rs2640905 - PERP Q96FX8 VAR_052341 p.Pro143Arg Polymorphism rs648802 - PES1 O00541 VAR_034375 p.Thr264Ser Polymorphism rs42942 - PES1 O00541 VAR_053570 p.Asp370His Polymorphism rs11541876 - PES1 O00541 VAR_053571 p.Ala411Thr Polymorphism rs34123894 - PET112 O75879 VAR_049128 p.Ala30Asp Polymorphism rs11556167 - PEX10 O60683 VAR_007805 p.His290Gln Disease - Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871] PEX10 O60683 VAR_058388 p.Thr274Ala Polymorphism rs34154371 - PEX11G Q96HA9 VAR_024560 p.Cys91Trp Polymorphism rs2303146 - PEX12 O00623 VAR_031998 p.Ser320Phe Disease rs28936697 Peroxisome biogenesis disorder 3B (PBD3B) [MIM:266510] PEX12 O00623 VAR_050495 p.Leu245Ile Polymorphism rs12941376 - PEX12 O00623 VAR_058389 p.Arg34Ser Disease - Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859] PEX13 Q92968 VAR_009306 p.Ile326Thr Disease - Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885] PEX14 O75381 VAR_051269 p.Ala117Ser Polymorphism rs12061667 - PEX14 O75381 VAR_051270 p.Ala150Ser Polymorphism rs11539793 - PEX14 O75381 VAR_051271 p.Arg320Lys Polymorphism rs12070353 - PEX16 Q9Y5Y5 VAR_034145 p.Val254Leu Polymorphism rs35214605 - PEX16 Q9Y5Y5 VAR_051272 p.Val103Met Polymorphism rs11553094 - PEX16 Q9Y5Y5 VAR_061841 p.Val116Ile Polymorphism rs10742772 - PEX1 O43933 VAR_008876 p.Leu664Pro Disease rs28939678 Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] PEX1 O43933 VAR_008876 p.Leu664Pro Disease rs28939678 Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] PEX1 O43933 VAR_008877 p.Gly843Asp Disease - Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] PEX1 O43933 VAR_008877 p.Gly843Asp Disease - Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] PEX1 O43933 VAR_034376 p.Ile696Met Polymorphism rs35996821 - PEX1 O43933 VAR_048113 p.Ile640Arg Polymorphism rs4559173 - PEX1 O43933 VAR_058376 p.Leu590Arg Disease - Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] PEX1 O43933 VAR_058377 p.Gly593Arg Disease - Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] PEX1 O43933 VAR_058378 p.Arg798Gly Disease - Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] PEX1 O43933 VAR_058379 p.Arg948Gln Polymorphism - - PEX1 O43933 VAR_058380 p.Ala1237Glu Disease - Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] PEX26 Q7Z412 VAR_018647 p.Leu45Pro Disease - Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873] PEX26 Q7Z412 VAR_018648 p.Gly89Arg Disease - Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872] PEX26 Q7Z412 VAR_018649 p.Arg98Trp Disease - Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873] PEX26 Q7Z412 VAR_034146 p.Leu153Val Polymorphism rs12484657 - PEX2 P28328 VAR_011389 p.Glu55Lys Disease - Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867] PEX2 P28328 VAR_060784 p.Cys184Arg Polymorphism rs10087163 - PEX3 P56589 VAR_009304 p.Gly138Glu Disease - Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882] PEX3 P56589 VAR_053572 p.Gln82Arg Polymorphism rs35220041 - PEX5L Q8IYB4 VAR_035865 p.Ala226Thr Unclassified - A colorectal cancer sample PEX5 P50542 VAR_007543 p.Asn526Lys Disease - Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370] PEX5 P50542 VAR_031328 p.Ser600Trp Disease - Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370] PEX6 Q13608 VAR_007918 p.Arg812Gln Disease - Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] PEX6 Q13608 VAR_007919 p.Arg812Trp Disease - Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] PEX6 Q13608 VAR_048114 p.Ala809Val Polymorphism rs35830695 - PEX6 Q13608 VAR_048115 p.Val882Ile Polymorphism rs2274516 - PEX6 Q13608 VAR_048116 p.Pro939Gln Polymorphism rs1129187 - PEX6 Q13608 VAR_058381 p.Ala79Pro Polymorphism - - PEX6 Q13608 VAR_058382 p.Pro274Leu Disease - Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] PEX6 Q13608 VAR_058383 p.Arg601Gln Polymorphism rs34324426 - PEX6 Q13608 VAR_058384 p.Asn849Thr Disease - Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] PEX6 Q13608 VAR_058385 p.Arg860Gln Disease - Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] PEX6 Q13608 VAR_058386 p.Arg860Trp Disease - Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] PEX6 Q13608 VAR_058387 p.Ala924Ser Polymorphism rs34551839 - PEX7 O00628 VAR_007725 p.Gly217Arg Unclassified - - PEX7 O00628 VAR_007726 p.Ala218Val Disease - Rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100] PEX7 O00628 VAR_016810 p.Thr14Pro Disease - Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879] PFAS O15067 VAR_055008 p.Pro19Ser Polymorphism rs9891699 - PFAS O15067 VAR_055009 p.Pro367Leu Polymorphism rs4791641 - PFAS O15067 VAR_055010 p.Phe481Tyr Polymorphism rs35217368 - PFAS O15067 VAR_055011 p.Leu621Pro Polymorphism rs11078738 - PFDN1 O60925 VAR_014529 p.Met67Arg Polymorphism rs1064061 - PFKFB4 Q16877 VAR_036075 p.Asn181Lys Unclassified - A breast cancer sample PFKL P17858 VAR_006070 p.Gly81Ala Polymorphism - - PFKL P17858 VAR_006071 p.Arg151Trp Polymorphism - - PFKL P17858 VAR_030872 p.Asp237Val Polymorphism rs1057037 - PFKM P08237 VAR_006063 p.Arg39Leu Disease - Glycogen storage disease type 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006064 p.Arg39Pro Disease - Glycogen storage disease type 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006065 p.Arg100Gln Disease rs2228500 Glycogen storage disease type 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006066 p.Gly209Asp Disease - Glycogen storage disease type 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006067 p.Asp543Ala Disease - Glycogen storage disease type 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006068 p.Trp686Cys Disease - Glycogen storage disease type 7 (GSD7) [MIM:232800] PFKM P08237 VAR_006069 p.Arg696His Disease rs41291971 Glycogen storage disease type 7 (GSD7) [MIM:232800] PGAM2 P15259 VAR_006088 p.Glu89Ala Disease - Glycogen storage disease type 10 (GSD10) [MIM:261670] PGAM2 P15259 VAR_006089 p.Arg90Trp Disease - Glycogen storage disease type 10 (GSD10) [MIM:261670] PGAM2 P15259 VAR_013103 p.Gly97Asp Disease - Glycogen storage disease type 10 (GSD10) [MIM:261670] PGAM4 Q8N0Y7 VAR_014355 p.Arg40Cys Polymorphism - - PGAM4 Q8N0Y7 VAR_014356 p.Arg90Gln Polymorphism rs5959129 - PGAM4 Q8N0Y7 VAR_014357 p.Ile175Thr Polymorphism - - PGBD1 Q96JS3 VAR_032384 p.Gly244Glu Polymorphism rs3800324 - PGBD1 Q96JS3 VAR_032385 p.Gln248Glu Polymorphism rs3800325 - PGBD1 Q96JS3 VAR_032386 p.Pro256Leu Polymorphism rs3800326 - PGBD1 Q96JS3 VAR_032387 p.Asn398Ser Polymorphism rs33932084 - PGBD1 Q96JS3 VAR_032388 p.Met592Ile Polymorphism rs16893917 - PGBD1 Q96JS3 VAR_032389 p.Ile678Val Polymorphism rs1997660 - PGBD1 Q96JS3 VAR_032390 p.His806Asp Polymorphism rs6456811 - PGBD1 Q96JS3 VAR_051273 p.Gly244Arg Polymorphism rs3800324 - PGBD3 Q8N328 VAR_032391 p.Arg382Lys Polymorphism rs4253072 - PGBD3 Q8N328 VAR_035621 p.Asp415Gly Unclassified - A breast cancer sample PGBD3 Q8N328 VAR_051274 p.Gln446Glu Polymorphism rs11101143 - PGD P52209 VAR_048104 p.Ala268Ser Polymorphism rs11547610 - PGGT1B P53609 VAR_034381 p.Ile103Val Polymorphism rs34918686 - PGK1 P00558 VAR_006076 p.Leu88Pro Disease - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006077 p.Gly158Val Disease - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006078 p.Asp164Val Disease - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006080 p.Arg206Pro Disease - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006081 p.Glu252Ala Disease - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006082 p.Val266Met Disease - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006083 p.Asp268Asn Unclassified - - PGK1 P00558 VAR_006084 p.Asp285Val Disease - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006085 p.Asp315Asn Disease - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006086 p.Cys316Arg Disease - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] PGK1 P00558 VAR_006087 p.Thr352Asn Polymorphism - - PGLYRP1 O75594 VAR_050497 p.Val34Gly Polymorphism rs34180629 - PGLYRP2 Q96PD5 VAR_050498 p.Thr46Ala Polymorphism rs3813135 - PGLYRP2 Q96PD5 VAR_050499 p.Arg99Gln Polymorphism rs733731 - PGLYRP2 Q96PD5 VAR_050500 p.Thr257Asn Polymorphism rs28404490 - PGLYRP2 Q96PD5 VAR_050501 p.Met270Lys Polymorphism rs892145 - PGLYRP2 Q96PD5 VAR_050502 p.Arg476Trp Polymorphism rs2304200 - PGLYRP2 Q96PD5 VAR_055231 p.Arg394Gln Polymorphism rs34440547 - PGLYRP3 Q96LB9 VAR_024561 p.Gly126Ser Polymorphism rs843971 - PGLYRP3 Q96LB9 VAR_061515 p.Ala35Thr Polymorphism rs55991125 - PGLYRP4 Q96LB8 VAR_031586 p.Gln92Arg Polymorphism rs3006453 - PGLYRP4 Q96LB8 VAR_031587 p.Gly192Val Polymorphism rs3006448 - PGLYRP4 Q96LB8 VAR_031588 p.Val213Ile Polymorphism rs12063091 - PGLYRP4 Q96LB8 VAR_031589 p.Asp301Asn Polymorphism rs35347202 - PGLYRP4 Q96LB8 VAR_033283 p.Ile13Leu Polymorphism rs3006458 - PGLYRP4 Q96LB8 VAR_050503 p.Pro3Leu Polymorphism rs12096209 - PGM1 P36871 VAR_006090 p.Lys68Met Polymorphism - - PGM1 P36871 VAR_006091 p.Arg221Cys Polymorphism rs1126728 - PGM1 P36871 VAR_006092 p.Tyr420His Polymorphism rs11208257 - PGM1 P36871 VAR_034380 p.Val501Ile Polymorphism rs6676290 - PGM1 P36871 VAR_050496 p.Ile88Val Polymorphism rs855314 - PGM1 P36871 VAR_062280 p.Thr115Ala Disease - Glycogen storage disease type 14 (GSD14) [MIM:612934] PGM2L1 Q6PCE3 VAR_028094 p.Leu14Pro Polymorphism rs12049823 - PGM2L1 Q6PCE3 VAR_028095 p.Val531Ile Polymorphism rs592644 - PGM2L1 Q6PCE3 VAR_056665 p.Asn608Ile Polymorphism rs36014178 - PGM2 Q96G03 VAR_027968 p.Gly10Asp Polymorphism rs17856324 - PGM2 Q96G03 VAR_027969 p.Glu488Asp Polymorphism rs10001580 - PGM3 O95394 VAR_013489 p.Asp466Asn Polymorphism rs473267 - PGPEP1L A6NFU8 VAR_043463 p.Ala142Val Polymorphism rs2715423 - PGPEP1L A6NFU8 VAR_043464 p.Glu169Gln Polymorphism rs1521484 - PGR P06401 VAR_014627 p.Arg625Ile Polymorphism rs2020874 - PGR P06401 VAR_014628 p.Ser865Leu Polymorphism rs2020880 - PGR P06401 VAR_016117 p.Ser344Thr Polymorphism rs3740753 - PGR P06401 VAR_016118 p.Val660Leu Polymorphism rs1042838 - PGR P06401 VAR_019221 p.Ala50Thr Polymorphism rs11571143 - PGR P06401 VAR_019222 p.Ala120Val Polymorphism rs11571144 - PGR P06401 VAR_019223 p.Pro186Leu Polymorphism rs11571145 - PGR P06401 VAR_019224 p.Met301Arg Polymorphism rs11571146 - PGR P06401 VAR_019225 p.Ala444Ser Polymorphism rs11571150 - PGR P06401 VAR_019226 p.Val529Leu Polymorphism rs11571151 - PGR P06401 VAR_019227 p.Gln536Pro Polymorphism rs11571152 - PGR P06401 VAR_019228 p.Leu651Val Polymorphism rs11571222 - PGR P06401 VAR_025555 p.Cys347Ser Polymorphism rs11571147 - PHACTR1 Q9C0D0 VAR_053645 p.Ile247Met Polymorphism rs17602409 - PHACTR2 O75167 VAR_045628 p.Pro165Ser Polymorphism rs2073214 - PHACTR2 O75167 VAR_053646 p.Ile449Val Polymorphism rs2295201 - PHACTR3 Q96KR7 VAR_021969 p.Pro154Leu Polymorphism rs2277759 - PHAX Q9H814 VAR_051871 p.Arg82Cys Polymorphism rs3734173 - PHB P35232 VAR_006479 p.Val88Ala Unclassified - A breast cancer sample PHB P35232 VAR_006480 p.Arg105His Unclassified - A breast cancer sample PHC1 P78364 VAR_054503 p.Thr693Ala Polymorphism rs1049925 - PHC2 Q8IXK0 VAR_051276 p.Pro254Ser Polymorphism rs10914692 - PHC2 Q8IXK0 VAR_051277 p.Val475Met Polymorphism rs12026290 - PHEX P78562 VAR_006738 p.Cys77Ser Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006739 p.Cys85Tyr Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006740 p.Leu138Pro Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006741 p.Arg166Cys Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006742 p.Phe252Ser Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006743 p.Met253Ile Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006744 p.Pro534Leu Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006745 p.Gly579Arg Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_006746 p.Gly579Val Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010616 p.Phe80Ser Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010617 p.Cys85Phe Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010618 p.Cys85Arg Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010619 p.Ser141Pro Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010620 p.Cys142Phe Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010621 p.Leu160Arg Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010622 p.Asp237Gly Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010623 p.Tyr317Phe Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010626 p.Trp530Cys Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010627 p.Leu555Pro Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010628 p.Arg567Pro Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010629 p.Ala573Asp Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010630 p.Gln621Arg Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010631 p.Arg651Pro Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010633 p.Asn680Lys Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010634 p.Cys693Tyr Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010635 p.Ala720Thr Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010636 p.Phe731Tyr Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010637 p.Cys733Ser Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010638 p.Cys746Trp Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHEX P78562 VAR_010639 p.Trp749Arg Disease - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] PHF13 Q86YI8 VAR_055285 p.Lys20Glu Polymorphism rs17853850 - PHF14 O94880 VAR_018480 p.Lys115Arg Polymorphism rs218966 - PHF15 Q9NQC1 VAR_053778 p.Arg581Gly Polymorphism rs34200923 - PHF17 Q6IE81 VAR_053777 p.Asn662Ser Polymorphism rs6855813 - PHF1 O43189 VAR_034382 p.Arg304Lys Polymorphism rs3116713 - PHF1 O43189 VAR_044500 p.Thr42Ser Polymorphism rs6934613 - PHF20 Q9BVI0 VAR_051600 p.Val605Met Polymorphism rs17431878 - PHF21A Q96BD5 VAR_025515 p.Arg347His Polymorphism rs3736508 - PHF21B Q96EK2 VAR_051601 p.Gly127Ser Polymorphism rs8135982 - PHF2 O75151 VAR_047553 p.Thr56Pro Polymorphism rs34279404 - PHF2 O75151 VAR_051598 p.Ser1058Leu Polymorphism rs35236745 - PHF3 Q92576 VAR_022040 p.His1834Tyr Polymorphism rs3734881 - PHF3 Q92576 VAR_051599 p.Val525Ile Polymorphism rs34288820 - PHF6 Q8IWS0 VAR_017633 p.Cys45Tyr Disease rs28935179 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF6 Q8IWS0 VAR_017634 p.Cys99Phe Disease - Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF6 Q8IWS0 VAR_017635 p.His229Arg Disease - Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF6 Q8IWS0 VAR_017636 p.Lys234Glu Disease - Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF6 Q8IWS0 VAR_017637 p.Arg257Gly Disease - Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] PHF7 Q9BWX1 VAR_035957 p.Lys369Asn Unclassified - A breast cancer sample PHF8 Q9UPP1 VAR_062250 p.Phe315Ser Disease - Mental retardation syndromic X-linked Siderius type (MRXSSD) [MIM:300263] PHGDH O43175 VAR_013461 p.Val425Met Disease - Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] PHGDH O43175 VAR_059026 p.Arg135Trp Disease - Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] PHGDH O43175 VAR_059027 p.Val261Met Disease - Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] PHGDH O43175 VAR_059028 p.Ala373Thr Disease - Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] PHGDH O43175 VAR_059029 p.Gly377Ser Disease - Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] PHGDH O43175 VAR_059030 p.Val490Met Disease - Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] PHIP Q8WWQ0 VAR_034683 p.Val663Gly Polymorphism rs7747479 - PHIP Q8WWQ0 VAR_034684 p.Thr874Ile Polymorphism rs11547228 - PHIP Q8WWQ0 VAR_034685 p.Leu1093Pro Polymorphism rs9350797 - PHIP Q8WWQ0 VAR_034686 p.Thr1135Pro Polymorphism rs34841569 - PHIP Q8WWQ0 VAR_034687 p.Asn1445Thr Polymorphism rs36048894 - PHIP Q8WWQ0 VAR_036238 p.Val469Ile Unclassified - A colorectal cancer sample PHIP Q8WWQ0 VAR_036239 p.Arg1767Ile Unclassified - A colorectal cancer sample PHKA1 P46020 VAR_020856 p.Asp299Val Disease - Glycogen storage disease type 9D (GSD9D) [MIM:300559] PHKA2 P46019 VAR_006177 p.His132Pro Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006178 p.His132Tyr Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006180 p.Arg186Cys Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006181 p.Arg186His Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006183 p.Asp299Gly Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006185 p.Thr1114Ile Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_006186 p.Pro1205Leu Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012269 p.Lys189Glu Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012271 p.Gly193Val Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012272 p.Arg295His Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012273 p.Pro399Ser Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012276 p.Glu1125Lys Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_012277 p.Gly1207Trp Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_024563 p.Glu38Gln Polymorphism rs17313469 - PHKA2 P46019 VAR_050518 p.Gly416Arg Polymorphism rs16980929 - PHKA2 P46019 VAR_062394 p.Pro498Leu Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_062395 p.Pro869Arg Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_062396 p.Arg916Trp Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKA2 P46019 VAR_062398 p.Met1113Ile Disease - Glycogen storage disease type 9A (GSD9A) [MIM:306000] PHKB Q93100 VAR_006187 p.Tyr770Cys Polymorphism rs16945474 - PHKB Q93100 VAR_015536 p.Ala118Pro Disease - Glycogen storage disease type 9B (GSD9B) [MIM:261750] PHKB Q93100 VAR_020857 p.Gln657Lys Polymorphism rs34667348 - PHKB Q93100 VAR_034056 p.Glu820Val Polymorphism rs9934849 - PHKB Q93100 VAR_036486 p.Leu867Val Unclassified - A breast cancer sample PHKB Q93100 VAR_036487 p.Gly877Arg Unclassified - A breast cancer sample PHKG1 Q16816 VAR_040994 p.Val48Met Unclassified - A colorectal adenocarcinoma sample PHKG1 Q16816 VAR_040995 p.Arg323Cys Polymorphism - - PHKG2 P15735 VAR_009517 p.Val106Glu Disease - Glycogen storage disease type 9C (GSD9C) [MIM:613027] PHKG2 P15735 VAR_009518 p.Gly189Glu Disease - Glycogen storage disease type 9C (GSD9C) [MIM:613027] PHKG2 P15735 VAR_020854 p.Glu157Lys Disease - Glycogen storage disease type 9C (GSD9C) [MIM:613027] PHKG2 P15735 VAR_020855 p.Asp215Asn Disease - Glycogen storage disease type 9C (GSD9C) [MIM:613027] PHKG2 P15735 VAR_040996 p.Ala317Thr Polymorphism - - PHKG2 P15735 VAR_051658 p.Glu247Gly Polymorphism rs34006569 - PHLDA3 Q9Y5J5 VAR_050515 p.Arg28Gln Polymorphism rs35383942 - PHLDB2 Q86SQ0 VAR_024760 p.Pro941Ser Polymorphism rs3749298 - PHLDB3 Q6NSJ2 VAR_056671 p.Gln239Arg Polymorphism rs11083711 - PHLPP1 O60346 VAR_056725 p.Ser1118Thr Polymorphism rs9950585 - PHOSPHO2 Q8TCD6 VAR_062092 p.Lys206Glu Polymorphism rs56036676 - PHOX2A O14813 VAR_019014 p.Ala72Val Disease - Congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078] PHOX2A O14813 VAR_019016 p.Pro256Gln Unclassified - - PHOX2B Q99453 VAR_026969 p.Arg100Leu Unclassified - - PHOX2B Q99453 VAR_026970 p.Arg141Gly Polymorphism rs28939716 - PHOX2B Q99453 VAR_046900 p.Arg141Gln Disease - Congenital central hypoventilation syndrome (CCHS) [MIM:209880] PHOX2B Q99453 VAR_046901 p.Gln143Arg Disease - Congenital central hypoventilation syndrome (CCHS) [MIM:209880] PHOX2B Q99453 VAR_046902 p.Gly197Asp Unclassified - - PHRF1 Q9P1Y6 VAR_030727 p.Glu1231Ala Polymorphism rs7116027 - PHRF1 Q9P1Y6 VAR_030728 p.Ala1374Val Polymorphism rs7123948 - PHRF1 Q9P1Y6 VAR_030729 p.Val1449Ala Polymorphism rs11246212 - PHYHD1 Q5SRE7 VAR_050529 p.Arg222Trp Polymorphism rs10988159 - PHYHIPL Q96FC7 VAR_043817 p.Val342Leu Polymorphism rs2452505 - PHYHIP Q92561 VAR_018475 p.Arg21Ser Polymorphism rs11547660 - PHYH O14832 VAR_005525 p.Asn269His Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_005526 p.Arg275Trp Disease rs28939671 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017482 p.Pro29Ser Disease rs28938169 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017483 p.Pro173Ser Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017484 p.Gln176Lys Disease rs28939672 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017485 p.Asp177Gly Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017486 p.Trp193Arg Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017487 p.Glu197Gln Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017488 p.Ile199Phe Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017489 p.Gly204Ser Disease rs28939673 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017490 p.His220Tyr Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017491 p.Arg245Gln Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017492 p.Phe257Ser Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_017493 p.Arg275Gln Disease rs28939674 Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_018619 p.Asn83Tyr Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_018631 p.His175Arg Disease - Refsum disease (RD) [MIM:266500] PHYH O14832 VAR_050528 p.Gly215Ser Polymorphism rs7901902 - PI16 Q6UXB8 VAR_032337 p.Thr50Pro Polymorphism rs1405069 - PI16 Q6UXB8 VAR_032338 p.Leu416Val Polymorphism rs16889318 - PI3 P19957 VAR_024695 p.Thr34Pro Polymorphism rs2664581 - PI3 P19957 VAR_052947 p.Thr17Met Polymorphism rs17333103 - PI4K2B Q8TCG2 VAR_031974 p.Ser78Pro Polymorphism rs313549 - PI4KAP2 A4QPH2 VAR_039391 p.Glu223Gln Polymorphism rs2930770 - PI4KA P42356 VAR_050531 p.Met322Val Polymorphism rs17819211 - PI4KA P42356 VAR_059549 p.Val1793Leu Polymorphism rs2539908 - PIAS2 O75928 VAR_056693 p.Val207Ala Polymorphism rs16940108 - PIAS3 Q9Y6X2 VAR_050535 p.Ser390Cys Polymorphism rs17354559 - PIBF1 Q8WXW3 VAR_051279 p.Ile167Val Polymorphism rs1372000 - PIBF1 Q8WXW3 VAR_051280 p.Arg405Gln Polymorphism rs17089782 - PIBF1 Q8WXW3 VAR_051281 p.Ile630Val Polymorphism rs11544631 - PICALM Q13492 VAR_028191 p.Thr158Pro Polymorphism rs12800974 - PICALM Q13492 VAR_028192 p.Ser383Phe Polymorphism rs12222608 - PICALM Q13492 VAR_028193 p.Trp578Cys Polymorphism rs1043858 - PICALM Q13492 VAR_028194 p.Gln579Glu Polymorphism rs1043859 - PICALM Q13492 VAR_028195 p.Phe641Leu Polymorphism rs556337 - PIDD Q9HB75 VAR_028031 p.Gln331Arg Polymorphism rs10902221 - PIEZO2 Q9H5I5 VAR_033925 p.Val2463Ile Polymorphism rs3748428 - PIF1 Q9H611 VAR_033206 p.Ile640Asn Polymorphism rs17802279 - PIFO Q8TCI5 VAR_031767 p.Lys97Asn Polymorphism rs15396 - PIFO Q8TCI5 VAR_031768 p.His105Asn Polymorphism rs2184884 - PIGA P37287 VAR_005531 p.Ser155Phe Disease - Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] PIGA P37287 VAR_005532 p.Asn297Asp Disease - Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] PIGA P37287 VAR_015436 p.Asp40His Disease - Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] PIGA P37287 VAR_015437 p.Gly48Ala Disease - Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] PIGA P37287 VAR_015438 p.Gly48Asp Disease - Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] PIGA P37287 VAR_015439 p.Gly48Val Disease - Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] PIGA P37287 VAR_015440 p.His128Arg Disease - Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] PIGA P37287 VAR_015441 p.Gly239Arg Disease - Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] PIGA P37287 VAR_015442 p.Arg19Trp Disease rs34422225 Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] PIGB Q92521 VAR_027027 p.Ile68Leu Polymorphism rs17851556 - PIGB Q92521 VAR_027028 p.Met162Thr Polymorphism rs2290344 - PIGB Q92521 VAR_027029 p.Trp299Leu Polymorphism rs678892 - PIGB Q92521 VAR_027030 p.Leu484Ser Polymorphism rs17851554 - PIGB Q92521 VAR_027031 p.Lys551Thr Polymorphism rs2444042 - PIGB Q92521 VAR_049224 p.Ser502Gly Polymorphism rs652397 - PIGC Q92535 VAR_011360 p.Pro266Ser Polymorphism rs1063412 - PIGG Q5H8A4 VAR_027022 p.Arg458His Polymorphism rs13115344 - PIGG Q5H8A4 VAR_027023 p.Cys610Arg Polymorphism rs7666425 - PIGG Q5H8A4 VAR_027024 p.Val699Ile Polymorphism rs13114026 - PIGG Q5H8A4 VAR_027025 p.Phe932Ser Polymorphism rs1127410 - PIGG Q5H8A4 VAR_057680 p.Ser55Tyr Polymorphism rs34120878 - PIGG Q5H8A4 VAR_060086 p.Val731Ile Polymorphism rs34916638 - PIGG Q5H8A4 VAR_060087 p.Ile881Thr Polymorphism rs34623004 - PIGK Q92643 VAR_051518 p.Thr16Ala Polymorphism rs12723684 - PIGM Q9H3S5 VAR_027026 p.Phe365Leu Polymorphism rs12409352 - PIGN O95427 VAR_053573 p.Lys162Glu Polymorphism rs17069506 - PIGN O95427 VAR_053574 p.His229Asp Polymorphism rs9320001 - PIGN O95427 VAR_053575 p.Leu469Phe Polymorphism rs3862712 - PIGN O95427 VAR_053576 p.Ile470Leu Polymorphism rs3862712 - PIGN O95427 VAR_053577 p.Phe904Cys Polymorphism rs34231046 - PIGN O95427 VAR_053578 p.Phe904Leu Polymorphism rs34231046 - PIGO Q8TEQ8 VAR_036332 p.Leu686Met Unclassified - A colorectal cancer sample PIGP P57054 VAR_050538 p.Tyr118Cys Polymorphism rs16994704 - PIGP P57054 VAR_050539 p.Arg136Ser Polymorphism rs2276231 - PIGP P57054 VAR_061521 p.Ala9Thr Polymorphism rs2507733 - PIGQ Q9BRB3 VAR_015596 p.Thr14Ala Polymorphism rs2071979 - PIGQ Q9BRB3 VAR_053579 p.Cys592Arg Polymorphism rs1045277 - PIGQ Q9BRB3 VAR_053580 p.Cys668Arg Polymorphism rs710924 - PIGQ Q9BRB3 VAR_053581 p.Cys668Tyr Polymorphism rs710925 - PIGR P01833 VAR_003920 p.Ala580Val Polymorphism rs291102 - PIGR P01833 VAR_025283 p.Gly365Ser Polymorphism rs2275531 - PIGR P01833 VAR_032822 p.Thr555Ile Polymorphism rs7542760 - PIGS Q96S52 VAR_036510 p.Met159Ile Unclassified - A breast cancer sample PIGS Q96S52 VAR_053582 p.Arg253His Polymorphism rs34669811 - PIGT Q969N2 VAR_053583 p.Ala473Thr Polymorphism rs36056071 - PIGV Q9NUD9 VAR_064190 p.Gln256Lys Disease - Hyperphosphatasia with mental retardation type 1 (HPMRS1) [MIM:239300] PIGV Q9NUD9 VAR_064191 p.Ala341Glu Disease - Hyperphosphatasia with mental retardation type 1 (HPMRS1) [MIM:239300] PIGV Q9NUD9 VAR_064192 p.Ala341Val Disease - Hyperphosphatasia with mental retardation type 1 (HPMRS1) [MIM:239300] PIGV Q9NUD9 VAR_064193 p.His385Pro Disease - Hyperphosphatasia with mental retardation type 1 (HPMRS1) [MIM:239300] PIGX Q8TBF5 VAR_027035 p.Pro155Leu Polymorphism rs2291397 - PIGX Q8TBF5 VAR_027036 p.Glu197Asp Polymorphism rs17852091 - PIGZ Q86VD9 VAR_027032 p.Arg340Gln Polymorphism rs4916589 - PIGZ Q86VD9 VAR_027033 p.Val417Ala Polymorphism rs1147238 - PIGZ Q86VD9 VAR_027034 p.Met487Ile Polymorphism rs17855662 - PIGZ Q86VD9 VAR_054965 p.Ala266Thr Polymorphism rs574365 - PIH1D1 Q9NWS0 VAR_035410 p.Met9Leu Polymorphism rs2293012 - PIH1D1 Q9NWS0 VAR_035411 p.Gly10Glu Polymorphism rs2293013 - PIH1D1 Q9NWS0 VAR_035412 p.Val224Ile Polymorphism rs13394 - PIH1D1 Q9NWS0 VAR_035413 p.Asp230Glu Polymorphism rs34198213 - PIH1D1 Q9NWS0 VAR_035414 p.Pro287Leu Polymorphism rs7462 - PIH1D2 Q8WWB5 VAR_035415 p.Ala117Val Polymorphism rs1425917 - PIK3AP1 Q6ZUJ8 VAR_044035 p.Glu21Lys Polymorphism rs17112076 - PIK3AP1 Q6ZUJ8 VAR_044036 p.Ala83Ser Polymorphism rs3748229 - PIK3AP1 Q6ZUJ8 VAR_044037 p.Glu551Lys Polymorphism rs3748233 - PIK3AP1 Q6ZUJ8 VAR_044038 p.Lys638Arg Polymorphism rs12784975 - PIK3C2A O00443 VAR_023333 p.Thr1415Ala Polymorphism rs11604561 - PIK3C2G O75747 VAR_056676 p.Pro146Leu Polymorphism rs11044004 - PIK3C2G O75747 VAR_056677 p.Ala261Glu Polymorphism rs7133666 - PIK3C2G O75747 VAR_060323 p.Pro911Leu Polymorphism rs12312266 - PIK3C2G O75747 VAR_060324 p.Val1290Gly Polymorphism rs12099555 - PIK3C2G O75747 VAR_060325 p.Asn1442Thr Polymorphism rs12816860 - PIK3CA P42336 VAR_026166 p.Arg38His Unclassified - Cancer PIK3CA P42336 VAR_026167 p.Arg88Gln Unclassified - Cancer PIK3CA P42336 VAR_026168 p.Gly106Val Unclassified - Cancer PIK3CA P42336 VAR_026169 p.Tyr343Cys Unclassified - Cancer PIK3CA P42336 VAR_026170 p.Ile391Met Polymorphism rs3729680 - PIK3CA P42336 VAR_026171 p.Cys420Arg Disease - Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] PIK3CA P42336 VAR_026172 p.Glu453Gln Unclassified - Cancer PIK3CA P42336 VAR_026173 p.Glu542Lys Disease - Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] PIK3CA P42336 VAR_026173 p.Glu542Lys Disease - Keratosis seborrheic (KERSEB) [MIM:182000] PIK3CA P42336 VAR_026174 p.Glu542Gln Unclassified - Cancer PIK3CA P42336 VAR_026175 p.Glu542Val Unclassified - Cancer PIK3CA P42336 VAR_026176 p.Glu545Ala Unclassified - Cancer PIK3CA P42336 VAR_026177 p.Glu545Gly Disease - Keratosis seborrheic (KERSEB) [MIM:182000] PIK3CA P42336 VAR_026178 p.Glu545Lys Disease - Keratosis seborrheic (KERSEB) [MIM:182000] PIK3CA P42336 VAR_026179 p.Gln546Glu Unclassified - Cancer PIK3CA P42336 VAR_026180 p.Gln546Lys Unclassified - Cancer PIK3CA P42336 VAR_026181 p.Gln546Pro Unclassified - Cancer PIK3CA P42336 VAR_026182 p.Gln546Arg Unclassified - Cancer PIK3CA P42336 VAR_026183 p.Gly1007Arg Unclassified - Cancer PIK3CA P42336 VAR_026184 p.Tyr1021Cys Unclassified - Cancer PIK3CA P42336 VAR_026185 p.Tyr1021His Unclassified - Cancer PIK3CA P42336 VAR_026186 p.Tyr1021Asn Unclassified - Cancer PIK3CA P42336 VAR_026187 p.Arg1023Gln Unclassified - Cancer PIK3CA P42336 VAR_026188 p.Thr1025Asn Unclassified - Cancer PIK3CA P42336 VAR_026189 p.Ala1035Val Unclassified - Cancer PIK3CA P42336 VAR_026190 p.Met1043Ile Unclassified - Cancer PIK3CA P42336 VAR_026191 p.His1047Leu Unclassified - Cancer PIK3CA P42336 VAR_026192 p.His1047Arg Disease - Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] PIK3CA P42336 VAR_026192 p.His1047Arg Disease - Keratosis seborrheic (KERSEB) [MIM:182000] PIK3CA P42336 VAR_026193 p.His1047Tyr Unclassified - Cancer PIK3CA P42336 VAR_026194 p.Gly1050Asp Unclassified - Cancer PIK3CA P42336 VAR_026195 p.Thr1052Lys Unclassified - Cancer PIK3CA P42336 VAR_026196 p.His1065Leu Unclassified - Cancer PIK3CA P42336 VAR_026197 p.His1065Tyr Unclassified - Cancer PIK3CA P42336 VAR_042942 p.Ile43Val Polymorphism rs1051399 - PIK3CA P42336 VAR_042943 p.Ser332Arg Polymorphism rs1051407 - PIK3CB P42338 VAR_050530 p.Gln672His Polymorphism rs2230462 - PIK3IP1 Q96FE7 VAR_031121 p.Thr251Ser Polymorphism rs2040533 - PIK3R1 P27986 VAR_010023 p.Met326Ile Polymorphism rs3730089 - PIK3R1 P27986 VAR_010024 p.Arg409Gln Unclassified - - PIK3R1 P27986 VAR_029562 p.Glu451Lys Polymorphism rs17852841 - PIK3R2 O00459 VAR_030679 p.Ser234Arg Polymorphism rs2241088 - PIK3R2 O00459 VAR_030680 p.Ser313Pro Polymorphism rs1011320 - PIK3R3 Q92569 VAR_047153 p.Asn283Lys Polymorphism rs785467 - PIK3R4 Q99570 VAR_035632 p.Arg936Gln Unclassified - A breast cancer sample PIK3R4 Q99570 VAR_040997 p.Phe273Leu Polymorphism rs55951445 - PIK3R4 Q99570 VAR_040998 p.Arg342His Polymorphism rs56295394 - PIK3R4 Q99570 VAR_040999 p.Arg347Trp Polymorphism rs34797184 - PIK3R4 Q99570 VAR_041000 p.Thr388Ile Polymorphism rs34663155 - PIK3R4 Q99570 VAR_041001 p.Asp393Asn Polymorphism rs34633532 - PIK3R4 Q99570 VAR_041002 p.Leu699Val Polymorphism rs56369596 - PIK3R4 Q99570 VAR_041003 p.Gly1043Val Polymorphism rs56160735 - PIK3R5 Q8WYR1 VAR_036227 p.Arg28Cys Unclassified - A colorectal cancer sample PIKFYVE Q9Y2I7 VAR_025309 p.Lys1103Arg Disease - Corneal fleck dystrophy (CFD) [MIM:121850] PIKFYVE Q9Y2I7 VAR_057097 p.Met617Val Polymorphism rs16840913 - PIKFYVE Q9Y2I7 VAR_057098 p.Ser1033Ala Polymorphism rs999890 - PIKFYVE Q9Y2I7 VAR_057099 p.Arg1858Gln Polymorphism rs2289170 - PIKFYVE Q9Y2I7 VAR_063406 p.Ser696Asn Polymorphism rs10932258 - PIKFYVE Q9Y2I7 VAR_063407 p.Leu932Ser Polymorphism rs2363468 - PIKFYVE Q9Y2I7 VAR_063408 p.Gln995Leu Polymorphism rs893254 - PIKFYVE Q9Y2I7 VAR_063409 p.Thr998Ser Polymorphism rs893253 - PIKFYVE Q9Y2I7 VAR_063410 p.Gln1183Lys Polymorphism rs1529979 - PILRA Q9UKJ1 VAR_056062 p.Ser279Leu Polymorphism rs34266222 - PILRA Q9UKJ1 VAR_060361 p.Arg78Gly Polymorphism rs1859788 - PILRB Q9UKJ0 VAR_059406 p.Ile63Thr Polymorphism rs11771799 - PILRB Q9UKJ0 VAR_059407 p.Asn66Asp Polymorphism rs11761306 - PIM1 P11309 VAR_041004 p.Tyr144His Unclassified - A colorectal adenocarcinoma sample PIM1 P11309 VAR_041005 p.Glu215Gln Polymorphism - - PIM1 P11309 VAR_041006 p.Glu226Lys Polymorphism - - PIM1 P11309 VAR_041007 p.Glu233Asp Polymorphism - - PIM2 Q9P1W9 VAR_041008 p.Gly138Asp Polymorphism rs35044770 - PIM2 Q9P1W9 VAR_041009 p.Ile280Val Polymorphism rs35208542 - PINK1 Q9BXM7 VAR_018993 p.Pro305Leu Polymorphism rs7349186 - PINK1 Q9BXM7 VAR_018994 p.Gly309Asp Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_018995 p.Ala340Thr Polymorphism rs3738136 - PINK1 Q9BXM7 VAR_018996 p.Asn521Thr Polymorphism rs1043424 - PINK1 Q9BXM7 VAR_041010 p.Leu148Trp Polymorphism rs56297806 - PINK1 Q9BXM7 VAR_041011 p.Pro196Ser Polymorphism rs35802484 - PINK1 Q9BXM7 VAR_041012 p.Pro209Leu Polymorphism rs34677717 - PINK1 Q9BXM7 VAR_041013 p.Pro215Leu Unclassified - A glioblastoma multiforme sample PINK1 Q9BXM7 VAR_041014 p.Ala339Thr Polymorphism rs55831733 - PINK1 Q9BXM7 VAR_041015 p.Met341Ile Polymorphism rs35813094 - PINK1 Q9BXM7 VAR_041016 p.Cys377Phe Polymorphism rs34203620 - PINK1 Q9BXM7 VAR_041017 p.Ser477Thr Polymorphism rs34416410 - PINK1 Q9BXM7 VAR_046566 p.Leu67Phe Polymorphism - - PINK1 Q9BXM7 VAR_046567 p.Arg68Pro Polymorphism - - PINK1 Q9BXM7 VAR_046568 p.Cys92Phe Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046569 p.Arg98Trp Polymorphism - - PINK1 Q9BXM7 VAR_046570 p.Ile111Ser Polymorphism - - PINK1 Q9BXM7 VAR_046571 p.Gln115Leu Polymorphism - - PINK1 Q9BXM7 VAR_046572 p.Ala124Val Polymorphism - - PINK1 Q9BXM7 VAR_046573 p.Thr145Met Polymorphism rs45604240 - PINK1 Q9BXM7 VAR_046574 p.Arg147His Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046575 p.Ala168Pro Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046576 p.Lys186Asn Polymorphism - - PINK1 Q9BXM7 VAR_046577 p.Pro196Leu Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046578 p.Ala217Asp Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046579 p.Glu231Gly Polymorphism - - PINK1 Q9BXM7 VAR_046580 p.Asn235Ile Polymorphism - - PINK1 Q9BXM7 VAR_046581 p.Glu240Lys Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046582 p.Thr257Ile Polymorphism - - PINK1 Q9BXM7 VAR_046583 p.Arg263Gly Polymorphism - - PINK1 Q9BXM7 VAR_046584 p.Leu268Val Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046585 p.His271Gln Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046586 p.Arg276Gln Polymorphism - - PINK1 Q9BXM7 VAR_046587 p.Arg279His Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046588 p.Pro296Leu Polymorphism - - PINK1 Q9BXM7 VAR_046589 p.Thr313Met Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046590 p.Val317Ile Polymorphism - - PINK1 Q9BXM7 VAR_046591 p.Met318Leu Polymorphism - - PINK1 Q9BXM7 VAR_046592 p.Pro322Leu Polymorphism - - PINK1 Q9BXM7 VAR_046593 p.Leu347Pro Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046594 p.Asp362His Polymorphism - - PINK1 Q9BXM7 VAR_046595 p.Ala383Thr Polymorphism rs45515602 - PINK1 Q9BXM7 VAR_046596 p.Cys388Arg Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046597 p.Gly395Val Polymorphism - - PINK1 Q9BXM7 VAR_046598 p.Gly411Ser Polymorphism rs45478900 - PINK1 Q9BXM7 VAR_046599 p.Glu417Gly Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046600 p.Pro425Ser Polymorphism - - PINK1 Q9BXM7 VAR_046601 p.Tyr431His Unclassified - - PINK1 Q9BXM7 VAR_046602 p.Ile442Thr Polymorphism - - PINK1 Q9BXM7 VAR_046603 p.Asn451Ser Unclassified - - PINK1 Q9BXM7 VAR_046604 p.Leu461Ser Polymorphism - - PINK1 Q9BXM7 VAR_046605 p.Arg464His Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046606 p.Glu476Lys Unclassified - - PINK1 Q9BXM7 VAR_046607 p.Leu489Pro Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_046608 p.Arg501Pro Unclassified - - PINK1 Q9BXM7 VAR_046609 p.Asp525Asn Polymorphism - - PINK1 Q9BXM7 VAR_046611 p.Ala537Thr Polymorphism - - PINK1 Q9BXM7 VAR_046612 p.Cys575Arg Unclassified - - PINK1 Q9BXM7 VAR_062773 p.Cys125Gly Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062774 p.Ala280Thr Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062775 p.Leu369Pro Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062776 p.Gly386Ala Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062777 p.Pro399Leu Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062778 p.Arg407Gln Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_062779 p.Gly409Val Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINK1 Q9BXM7 VAR_064344 p.Gln126Pro Disease - Parkinson disease type 6 (PARK6) [MIM:605909] PINX1 Q96BK5 VAR_054024 p.Gln206His Polymorphism rs35530857 - PINX1 Q96BK5 VAR_054025 p.Arg215Ile Polymorphism rs17855458 - PINX1 Q96BK5 VAR_054026 p.Thr220Ala Polymorphism rs17711777 - PINX1 Q96BK5 VAR_054027 p.Ser254Cys Polymorphism rs1078543 - PINX1 Q96BK5 VAR_054028 p.Glu315Ala Polymorphism rs34656824 - PION A4D1B5 VAR_043467 p.His47Arg Polymorphism rs6949654 - PION A4D1B5 VAR_043468 p.Gly305Glu Polymorphism rs1527263 - PION A4D1B5 VAR_043469 p.Val649Ile Polymorphism rs17151692 - PION A4D1B5 VAR_043470 p.Trp653Leu Polymorphism rs17151689 - PIP4K2A P48426 VAR_024565 p.Asn251Ser Polymorphism rs10828317 - PIP4K2A P48426 VAR_059764 p.Leu7Ile Polymorphism rs11813789 - PIP4K2C Q8TBX8 VAR_032049 p.Val84Ala Polymorphism rs17550713 - PIP4K2C Q8TBX8 VAR_032050 p.Lys241Arg Polymorphism rs17852569 - PIP4K2C Q8TBX8 VAR_032051 p.Ala300Gly Polymorphism rs2277319 - PIP5K1B O14986 VAR_023712 p.Ala415Thr Polymorphism rs55897616 - PIP5K1C O60331 VAR_036996 p.Asp253Asn Disease - Lethal congenital contracture syndrome type 3 (LCCS3) [MIM:611369] PIR O00625 VAR_050543 p.Val228Ala Polymorphism rs34104000 - PITPNM2 Q9BZ72 VAR_053584 p.Pro9Leu Polymorphism rs17884869 - PITPNM2 Q9BZ72 VAR_062131 p.Leu661Met Polymorphism rs55813219 - PITPNM3 Q9BZ71 VAR_026014 p.Ala80Thr Polymorphism rs3809835 - PITPNM3 Q9BZ71 VAR_046787 p.Gln626His Disease - Cone-rod dystrophy type 5 (CORD5) [MIM:600977] PITPNM3 Q9BZ71 VAR_062132 p.Pro17Ser Polymorphism rs28493751 - PITRM1 Q5JRX3 VAR_027517 p.Gln8Arg Polymorphism rs11818724 - PITRM1 Q5JRX3 VAR_027518 p.Leu145Val Polymorphism rs9423502 - PITRM1 Q5JRX3 VAR_027519 p.Phe169Ser Polymorphism rs3814596 - PITRM1 Q5JRX3 VAR_027520 p.Val328Ile Polymorphism rs4242746 - PITRM1 Q5JRX3 VAR_027521 p.Val397Ala Polymorphism rs3182535 - PITRM1 Q5JRX3 VAR_027522 p.Gln516His Polymorphism rs3765101 - PITRM1 Q5JRX3 VAR_027523 p.Val621Ile Polymorphism rs2388556 - PITRM1 Q5JRX3 VAR_027524 p.Ile952Met Polymorphism rs2279219 - PITRM1 Q5JRX3 VAR_027525 p.Val963Ile Polymorphism rs17849904 - PITRM1 Q5JRX3 VAR_027526 p.Pro969Leu Polymorphism rs2279218 - PITRM1 Q5JRX3 VAR_027527 p.Arg1037Gln Polymorphism rs6901 - PITRM1 Q5JRX3 VAR_057059 p.Ala554Asp Polymorphism rs12248937 - PITRM1 Q5JRX3 VAR_057060 p.Arg805Gln Polymorphism rs34837384 - PITX1 P78337 VAR_049586 p.Gly299Ala Polymorphism rs479632 - PITX1 P78337 VAR_058113 p.Glu130Lys Disease - Congenital clubfoot (CCF) [MIM:119800] PITX2 Q99697 VAR_003762 p.Arg130Trp Disease - Iridogoniodysgenesis type 2 (IRID2) [MIM:137600] PITX2 Q99697 VAR_003763 p.Leu100Gln Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_003764 p.Thr114Pro Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_003765 p.Arg115His Disease - Iridogoniodysgenesis type 2 (IRID2) [MIM:137600] PITX2 Q99697 VAR_003766 p.Arg137Pro Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_035027 p.Arg108His Disease - Ring dermoid of cornea (RDC) [MIM:180550] PITX2 Q99697 VAR_035029 p.Val129Leu Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058735 p.Pro110Leu Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058736 p.Pro110Arg Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058737 p.Lys134Glu Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058738 p.Arg136Cys Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058739 p.Leu151Val Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX2 Q99697 VAR_058740 p.Asn154Thr Disease - Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] PITX3 O75364 VAR_003767 p.Ser13Asn Disease - Cataract autosomal dominant (ADC) [MIM:604219] PIWIL1 Q96J94 VAR_026288 p.Lys491Asn Polymorphism rs17856812 - PIWIL1 Q96J94 VAR_026289 p.Arg527Lys Polymorphism rs1106042 - PIWIL1 Q96J94 VAR_026290 p.Leu575Pro Polymorphism rs17852568 - PIWIL3 Q7Z3Z3 VAR_034383 p.Pro375Ser Polymorphism rs1475853 - PIWIL3 Q7Z3Z3 VAR_034384 p.Cys412Arg Polymorphism rs1892722 - PIWIL3 Q7Z3Z3 VAR_034385 p.Val418Met Polymorphism rs1892723 - PIWIL3 Q7Z3Z3 VAR_054774 p.Val471Ile Polymorphism rs11703684 - PIWIL3 Q7Z3Z3 VAR_059130 p.Arg589Cys Polymorphism rs738826 - PIWIL3 Q7Z3Z3 VAR_061024 p.Pro186Leu Polymorphism rs61083377 - PIWIL4 Q7Z3Z4 VAR_026291 p.Gln327Leu Polymorphism rs11020845 - PIWIL4 Q7Z3Z4 VAR_028367 p.Gln78Arg Polymorphism rs12276921 - PIWIL4 Q7Z3Z4 VAR_055533 p.Lys167Arg Polymorphism rs12272255 - PIWIL4 Q7Z3Z4 VAR_061025 p.Ala370Pro Polymorphism rs57607909 - PJA1 Q8NG27 VAR_052088 p.Ser432Asn Polymorphism rs5937160 - PJA1 Q8NG27 VAR_052089 p.Glu606Asp Polymorphism rs11539157 - PJA2 O43164 VAR_030698 p.Gln297Arg Polymorphism rs1045706 - PJA2 O43164 VAR_030699 p.Ala705Thr Polymorphism rs246105 - PJA2 O43164 VAR_057215 p.Glu176Gly Polymorphism rs35224970 - PKD1L1 Q8TDX9 VAR_021944 p.Glu2410Lys Polymorphism rs2290386 - PKD1L1 Q8TDX9 VAR_024566 p.Val312Phe Polymorphism rs2686817 - PKD1L1 Q8TDX9 VAR_024567 p.Arg1053Pro Polymorphism rs10274334 - PKD1L1 Q8TDX9 VAR_024568 p.Lys1272Glu Polymorphism rs1470859 - PKD1L1 Q8TDX9 VAR_050552 p.Asp812Asn Polymorphism rs17131915 - PKD1L1 Q8TDX9 VAR_050553 p.Thr879Ala Polymorphism rs11972142 - PKD1L1 Q8TDX9 VAR_050554 p.Ala2685Thr Polymorphism rs13231277 - PKD1L1 Q8TDX9 VAR_061522 p.Val894Ile Polymorphism rs56100904 - PKD1L1 Q8TDX9 VAR_061523 p.Arg2057His Polymorphism rs17131834 - PKD1L1 Q8TDX9 VAR_061524 p.Leu2603Phe Polymorphism rs59848490 - PKD1L2 Q7Z442 VAR_039427 p.Val20Ala Polymorphism rs9924530 - PKD1L2 Q7Z442 VAR_039428 p.Trp73Arg Polymorphism rs9924371 - PKD1L2 Q7Z442 VAR_039429 p.Lys77Asn Polymorphism rs9934272 - PKD1L2 Q7Z442 VAR_039430 p.Gln120Leu Polymorphism rs7191351 - PKD1L2 Q7Z442 VAR_039431 p.Gly129Asp Polymorphism rs7185774 - PKD1L2 Q7Z442 VAR_039432 p.Val156Ile Polymorphism rs35528333 - PKD1L2 Q7Z442 VAR_039433 p.Cys162Ser Polymorphism rs35970134 - PKD1L2 Q7Z442 VAR_039434 p.Val169Met Polymorphism rs36099350 - PKD1L2 Q7Z442 VAR_039435 p.Leu173Ser Polymorphism rs8060294 - PKD1L2 Q7Z442 VAR_039436 p.Val183Ile Polymorphism rs12933806 - PKD1L2 Q7Z442 VAR_039437 p.Gly205Arg Polymorphism rs34719852 - PKD1L2 Q7Z442 VAR_039438 p.Glu221Gly Polymorphism rs6564838 - PKD1L2 Q7Z442 VAR_039439 p.Arg252Trp Polymorphism rs6420424 - PKD1L2 Q7Z442 VAR_039440 p.Pro301Ala Polymorphism rs11150370 - PKD1L2 Q7Z442 VAR_039441 p.Asn407Ser Polymorphism rs9937169 - PKD1L2 Q7Z442 VAR_039442 p.Lys416Gln Polymorphism rs7194871 - PKD1L2 Q7Z442 VAR_039443 p.Leu462Val Polymorphism rs9934856 - PKD1L2 Q7Z442 VAR_039444 p.Pro512Leu Polymorphism rs7205673 - PKD1L2 Q7Z442 VAR_039445 p.Arg636His Polymorphism rs13339342 - PKD1L2 Q7Z442 VAR_039446 p.Leu711Pro Polymorphism rs4889261 - PKD1L2 Q7Z442 VAR_039447 p.Gly785Cys Polymorphism rs9935113 - PKD1L2 Q7Z442 VAR_039448 p.Arg849His Polymorphism rs1869349 - PKD1L2 Q7Z442 VAR_039449 p.Ala863Val Polymorphism rs12596941 - PKD1L2 Q7Z442 VAR_039450 p.Leu919Met Polymorphism rs745211 - PKD1L2 Q7Z442 VAR_039451 p.Leu1036Pro Polymorphism rs12597040 - PKD1L2 Q7Z442 VAR_039452 p.Met1042Val Polymorphism rs12931227 - PKD1L2 Q7Z442 VAR_056705 p.Thr1048Ala Polymorphism rs12931217 - PKD1L2 Q7Z442 VAR_056706 p.Gly1081Val Polymorphism rs16954794 - PKD1L2 Q7Z442 VAR_056707 p.Gly1251Trp Polymorphism rs734824 - PKD1L2 Q7Z442 VAR_056708 p.Ser1326Pro Polymorphism rs1453324 - PKD1L2 Q7Z442 VAR_056709 p.Ala1335Asp Polymorphism rs1453326 - PKD1L2 Q7Z442 VAR_056710 p.Thr1406Met Polymorphism rs8050904 - PKD1L2 Q7Z442 VAR_056711 p.Ala1527Val Polymorphism rs16954775 - PKD1L2 Q7Z442 VAR_056712 p.Gln1616Arg Polymorphism rs9921827 - PKD1L2 Q7Z442 VAR_056713 p.Met1645Val Polymorphism rs9921748 - PKD1L2 Q7Z442 VAR_056714 p.Ser1665Tyr Polymorphism rs7192948 - PKD1L2 Q7Z442 VAR_056715 p.Gln1701His Polymorphism rs7194136 - PKD1L2 Q7Z442 VAR_056716 p.Gly1848Arg Polymorphism rs4889244 - PKD1L2 Q7Z442 VAR_056717 p.Met1867Val Polymorphism rs12918619 - PKD1L2 Q7Z442 VAR_056718 p.Gln2036Arg Polymorphism rs16954722 - PKD1L2 Q7Z442 VAR_056719 p.Pro2046Leu Polymorphism rs7206183 - PKD1L2 Q7Z442 VAR_056720 p.Ala2055Thr Polymorphism rs16954717 - PKD1L2 Q7Z442 VAR_059551 p.Leu2119Ile Polymorphism rs8050204 - PKD1L2 Q7Z442 VAR_059552 p.Ser2139Phe Polymorphism rs4889241 - PKD1L2 Q7Z442 VAR_059553 p.Met2315Ile Polymorphism rs8054182 - PKD1L2 Q7Z442 VAR_061525 p.Arg998Cys Polymorphism rs34504526 - PKD1L2 Q7Z442 VAR_061526 p.Gln999His Polymorphism rs35292101 - PKD1L2 Q7Z442 VAR_061527 p.Asn1330Asp Polymorphism rs1453325 - PKD1L2 Q7Z442 VAR_061528 p.Ile1331Val Polymorphism rs9938333 - PKD1L2 Q7Z442 VAR_061529 p.Ala1739Val Polymorphism rs35941327 - PKD1L2 Q7Z442 VAR_061530 p.Ser2209Arg Polymorphism rs4889238 - PKD1L3 Q7Z443 VAR_039453 p.Ile120Phe Polymorphism rs16973585 - PKD1L3 Q7Z443 VAR_039454 p.Ser211Pro Polymorphism rs4788591 - PKD1L3 Q7Z443 VAR_039455 p.Lys274Glu Polymorphism rs12708923 - PKD1L3 Q7Z443 VAR_039456 p.Thr429Ser Polymorphism rs7185272 - PKD1L3 Q7Z443 VAR_039457 p.Ala471Asp Polymorphism rs16973537 - PKD1L3 Q7Z443 VAR_039458 p.His571Gln Polymorphism rs1559401 - PKD1L3 Q7Z443 VAR_039459 p.Val593Met Polymorphism rs9925415 - PKD1L3 Q7Z443 VAR_039460 p.Val903Ile Polymorphism rs9921412 - PKD1L3 Q7Z443 VAR_039461 p.Ser1176Arg Polymorphism rs1035543 - PKD1L3 Q7Z443 VAR_039462 p.Tyr1474Cys Polymorphism rs13335617 - PKD1 P98161 VAR_005533 p.Met2760Thr Polymorphism rs1800568 - PKD1 P98161 VAR_005535 p.Leu2763Val Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_005536 p.Met2764Thr Polymorphism rs1800570 - PKD1 P98161 VAR_005537 p.Arg2791Gln Unclassified - - PKD1 P98161 VAR_005538 p.Ile2826Thr Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_005539 p.Val3008Leu Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_005541 p.Val3375Met Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_005542 p.Glu3632Asp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_005543 p.Met3678Thr Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_005545 p.Gly4032Asp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_005546 p.Ile4045Val Polymorphism rs10960 - PKD1 P98161 VAR_005547 p.Val4058Ala Polymorphism - - PKD1 P98161 VAR_010085 p.Arg324Leu Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_010086 p.Leu845Ser Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_010087 p.Trp1399Arg Polymorphism - - PKD1 P98161 VAR_010088 p.Pro1786Leu Polymorphism - - PKD1 P98161 VAR_010089 p.Leu2993Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_010090 p.Gln3016Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_010091 p.Thr3510Met Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_010092 p.Leu3511Val Unclassified - - PKD1 P98161 VAR_010093 p.Ser3562Asn Polymorphism - - PKD1 P98161 VAR_010095 p.Ala4059Val Polymorphism - - PKD1 P98161 VAR_010096 p.Arg4136Gly Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_010097 p.Arg4154Cys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_010098 p.Ser4190Phe Polymorphism - - PKD1 P98161 VAR_010099 p.Gln4225Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_010100 p.Arg4276Trp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011030 p.Leu13Gln Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011031 p.Ser75Phe Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011032 p.Trp139Cys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011033 p.Gly1166Ser Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011034 p.Val1956Glu Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011036 p.Arg1995His Polymorphism - - PKD1 P98161 VAR_011038 p.Thr2250Met Unclassified - - PKD1 P98161 VAR_011039 p.Arg2329Trp Unclassified - - PKD1 P98161 VAR_011040 p.Tyr2336Asp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011041 p.Tyr2379Cys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011042 p.Arg2408Cys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011044 p.Asp2604Asn Polymorphism - - PKD1 P98161 VAR_011045 p.Pro2674Ser Polymorphism - - PKD1 P98161 VAR_011046 p.Thr2708Met Polymorphism - - PKD1 P98161 VAR_011047 p.Pro2734Thr Polymorphism - - PKD1 P98161 VAR_011048 p.Gln2735Leu Polymorphism - - PKD1 P98161 VAR_011049 p.Ala2752Asp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011051 p.Arg2765Cys Polymorphism - - PKD1 P98161 VAR_011052 p.Val2768Met Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011053 p.Glu2771Lys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011054 p.Val2782Met Polymorphism - - PKD1 P98161 VAR_011055 p.Gly2814Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011056 p.Leu2816Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011057 p.Gly2858Ser Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011058 p.Arg2888Gly Polymorphism - - PKD1 P98161 VAR_011059 p.Val2905Ile Polymorphism - - PKD1 P98161 VAR_011060 p.His2921Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011061 p.Glu2966Asp Polymorphism - - PKD1 P98161 VAR_011063 p.Phe3066Leu Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011064 p.Gly3139Val Polymorphism - - PKD1 P98161 VAR_011065 p.Pro3193Leu Polymorphism - - PKD1 P98161 VAR_011066 p.Ala3512Val Polymorphism - - PKD1 P98161 VAR_011067 p.Arg3719Gln Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011068 p.Arg3753Trp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011069 p.Asp3815Asn Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_011070 p.Leu3852Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012452 p.Ala88Val Polymorphism - - PKD1 P98161 VAR_012453 p.Trp967Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012454 p.Arg2392Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012455 p.Ser2423Phe Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012456 p.Pro2471Leu Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012457 p.Gln2519Leu Unclassified - - PKD1 P98161 VAR_012458 p.Glu2548Gln Polymorphism rs28369051 - PKD1 P98161 VAR_012460 p.Thr2582Met Polymorphism rs2432405 - PKD1 P98161 VAR_012462 p.His2638Arg Disease rs9936785 Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012463 p.Thr2649Ile Unclassified - - PKD1 P98161 VAR_012464 p.Leu2696Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012465 p.Asp2972Asn Polymorphism - - PKD1 P98161 VAR_012467 p.Arg2985Gly Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012468 p.Arg3039Cys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012469 p.Val3285Ile Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_012470 p.His3311Arg Polymorphism - - PKD1 P98161 VAR_012471 p.Gly3560Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_013838 p.Arg3247His Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_013839 p.Thr3382Met Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_014918 p.Arg2746Pro Polymorphism rs1800569 - PKD1 P98161 VAR_056696 p.Leu950Pro Polymorphism rs2369063 - PKD1 P98161 VAR_056697 p.Met1092Thr Disease rs2549677 Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_056698 p.Leu1114Arg Polymorphism rs241573 - PKD1 P98161 VAR_056699 p.Arg1557Pro Polymorphism rs241572 - PKD1 P98161 VAR_056700 p.Thr1734Lys Polymorphism rs241571 - PKD1 P98161 VAR_056701 p.Arg2515Gln Polymorphism rs2432404 - PKD1 P98161 VAR_056702 p.Ser2534Gly Polymorphism rs3874655 - PKD1 P98161 VAR_056703 p.Gln3005Glu Polymorphism rs1063401 - PKD1 P98161 VAR_056704 p.Met3023Val Polymorphism rs17135779 - PKD1 P98161 VAR_058759 p.Pro36His Polymorphism - - PKD1 P98161 VAR_058760 p.Pro61Leu Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058761 p.Leu87Met Polymorphism - - PKD1 P98161 VAR_058762 p.Ser99Ile Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058763 p.Gln164Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058764 p.Cys210Gly Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058765 p.Gly381Cys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058766 p.Cys508Arg Disease rs58598099 Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058767 p.Pro572Ser Polymorphism - - PKD1 P98161 VAR_058768 p.Phe594Tyr Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058769 p.Val690Asp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058770 p.Pro738Arg Polymorphism - - PKD1 P98161 VAR_058771 p.Arg739Gln Polymorphism rs40433 - PKD1 P98161 VAR_058772 p.Gln987His Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058773 p.Pro1168Ser Polymorphism - - PKD1 P98161 VAR_058775 p.Thr1242Met Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058776 p.Arg1340Trp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058777 p.Ala1516Thr Polymorphism - - PKD1 P98161 VAR_058778 p.Thr1649Met Polymorphism - - PKD1 P98161 VAR_058779 p.Thr1667Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058780 p.Ser1684Leu Polymorphism - - PKD1 P98161 VAR_058781 p.Glu1811Lys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058782 p.Ala1871Thr Polymorphism - - PKD1 P98161 VAR_058783 p.Ala1926Val Polymorphism - - PKD1 P98161 VAR_058784 p.Val1943Ile Polymorphism - - PKD1 P98161 VAR_058785 p.Gly1952Asp Polymorphism - - PKD1 P98161 VAR_058786 p.Thr2083Ile Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058787 p.Tyr2092Cys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058788 p.Tyr2185Asp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058789 p.Arg2200Cys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058791 p.Cys2370Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058792 p.Cys2373Tyr Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058794 p.Thr2422Lys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058795 p.Arg2761Pro Unclassified - - PKD1 P98161 VAR_058796 p.Gly2785Asp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058797 p.Pro2802Leu Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058798 p.Ser2958Leu Polymorphism - - PKD1 P98161 VAR_058799 p.Thr2977Asn Polymorphism - - PKD1 P98161 VAR_058800 p.Val3008Met Polymorphism - - PKD1 P98161 VAR_058802 p.Val3057Met Polymorphism - - PKD1 P98161 VAR_058803 p.Val3138Met Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058804 p.Ile3167Phe Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058806 p.Pro3355Leu Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058807 p.Arg3435Gln Polymorphism - - PKD1 P98161 VAR_058808 p.Gly3602Ser Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058809 p.Pro3649Leu Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058810 p.Leu3682Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058811 p.Trp3726Ser Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058812 p.Gln3751Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058813 p.Ala3954Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058814 p.Gly4102Glu Polymorphism - - PKD1 P98161 VAR_058815 p.Leu4106Pro Polymorphism - - PKD1 P98161 VAR_058816 p.Pro4124Ser Polymorphism - - PKD1 P98161 VAR_058817 p.Val4146Ile Polymorphism - - PKD1 P98161 VAR_058818 p.Phe4155Val Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_058819 p.Pro4255Ser Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064380 p.Asp97Gly Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064381 p.Cys436Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064382 p.Ala442Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064383 p.Leu727Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064384 p.Leu727Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064385 p.Gly2391Asp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064386 p.Arg2434Trp Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064387 p.His2546Tyr Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064388 p.Ser2569Cys Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064389 p.Ile2646Thr Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064390 p.Ser2889Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064391 p.Leu3154Pro Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064392 p.Trp3603Arg Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD1 P98161 VAR_064393 p.Arg3750Gln Disease - Polycystic kidney disease 1 (PKD1) [MIM:173900] PKD2L1 Q9P0L9 VAR_024569 p.Val393Ile Polymorphism rs2278842 - PKD2L1 Q9P0L9 VAR_024570 p.Arg681Leu Polymorphism rs6584356 - PKD2L1 Q9P0L9 VAR_050555 p.Arg278Gln Polymorphism rs17112895 - PKD2L1 Q9P0L9 VAR_050556 p.Arg378Trp Polymorphism rs7909153 - PKD2L1 Q9P0L9 VAR_050557 p.Ala788Asp Polymorphism rs12782963 - PKD2L2 Q9NZM6 VAR_047542 p.Val404Ile Polymorphism rs1880458 - PKD2L2 Q9NZM6 VAR_047543 p.Leu507Pro Polymorphism rs12187140 - PKD2 Q13563 VAR_009195 p.Trp414Gly Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKD2 Q13563 VAR_011072 p.Arg28Pro Polymorphism rs1805044 - PKD2 Q13563 VAR_011073 p.Ala356Pro Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKD2 Q13563 VAR_014919 p.Ile452Val Polymorphism rs1801612 - PKD2 Q13563 VAR_058820 p.Pro24Leu Polymorphism - - PKD2 Q13563 VAR_058821 p.Ala190Thr Polymorphism - - PKD2 Q13563 VAR_058822 p.Arg306Gln Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKD2 Q13563 VAR_058823 p.Arg322Gln Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKD2 Q13563 VAR_058824 p.Arg322Trp Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKD2 Q13563 VAR_058825 p.Arg420Gly Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKD2 Q13563 VAR_058826 p.Phe482Cys Polymorphism - - PKD2 Q13563 VAR_058827 p.Asp511Val Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKD2 Q13563 VAR_058828 p.Cys632Arg Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKD2 Q13563 VAR_058829 p.Met800Leu Polymorphism rs2234917 - PKD2 Q13563 VAR_058830 p.Arg807Gln Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKD2 Q13563 VAR_064394 p.Ala384Pro Disease - Polycystic kidney disease 2 (PKD2) [MIM:613095] PKDREJ Q9NTG1 VAR_034386 p.Ile1147Met Polymorphism rs36125344 - PKDREJ Q9NTG1 VAR_036573 p.Ala669Gly Unclassified - A breast cancer sample PKDREJ Q9NTG1 VAR_036574 p.Thr1875Ile Unclassified - A breast cancer sample PKDREJ Q9NTG1 VAR_050544 p.Arg528Gln Polymorphism rs6008394 - PKDREJ Q9NTG1 VAR_050545 p.Leu914Pro Polymorphism rs6519993 - PKDREJ Q9NTG1 VAR_050546 p.Thr992Pro Polymorphism rs7291444 - PKDREJ Q9NTG1 VAR_050547 p.Val993Ala Polymorphism rs34798212 - PKDREJ Q9NTG1 VAR_050548 p.Asn1091Ser Polymorphism rs6008384 - PKDREJ Q9NTG1 VAR_050549 p.Asn1411Asp Polymorphism rs35276226 - PKDREJ Q9NTG1 VAR_050550 p.Ile1528Met Polymorphism rs4823496 - PKDREJ Q9NTG1 VAR_050551 p.Val1729Ile Polymorphism rs9626829 - PKDREJ Q9NTG1 VAR_059550 p.Val26Ala Polymorphism rs7293071 - PKHD1L1 Q86WI1 VAR_038760 p.Trp373Cys Polymorphism rs16879428 - PKHD1L1 Q86WI1 VAR_038761 p.Tyr440His Polymorphism rs964307 - PKHD1L1 Q86WI1 VAR_038762 p.His923Arg Polymorphism rs4735133 - PKHD1L1 Q86WI1 VAR_038763 p.Tyr943His Polymorphism rs16879534 - PKHD1L1 Q86WI1 VAR_038764 p.Ala957Glu Polymorphism rs35375999 - PKHD1L1 Q86WI1 VAR_038765 p.Thr1192Ala Polymorphism rs10093885 - PKHD1L1 Q86WI1 VAR_038766 p.Arg1514Ser Polymorphism rs1673408 - PKHD1L1 Q86WI1 VAR_038767 p.Thr1539Arg Polymorphism rs7820062 - PKHD1L1 Q86WI1 VAR_038768 p.Val1965Leu Polymorphism rs1673407 - PKHD1L1 Q86WI1 VAR_038769 p.His3050Gln Polymorphism rs1783147 - PKHD1L1 Q86WI1 VAR_038770 p.Val3080Ile Polymorphism rs10441509 - PKHD1L1 Q86WI1 VAR_038771 p.Ile3411Val Polymorphism rs16879659 - PKHD1L1 Q86WI1 VAR_038772 p.Asp3607Glu Polymorphism rs9774677 - PKHD1L1 Q86WI1 VAR_038773 p.Leu3862Phe Polymorphism rs16879693 - PKHD1L1 Q86WI1 VAR_038774 p.Val4220Ile Polymorphism rs1783174 - PKHD1 P08F94 VAR_014039 p.Thr36Met Disease rs28939383 Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014040 p.Ile222Val Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014041 p.Phe253Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014042 p.Thr752Met Polymorphism - - PKHD1 P08F94 VAR_014043 p.Arg760Cys Polymorphism rs9370096 - PKHD1 P08F94 VAR_014044 p.Arg760His Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014045 p.Trp852Arg Polymorphism - - PKHD1 P08F94 VAR_014046 p.Gly1122Ser Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014047 p.Cys1204Tyr Polymorphism - - PKHD1 P08F94 VAR_014048 p.Cys1249Trp Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014049 p.Ala1262Val Polymorphism rs9296669 - PKHD1 P08F94 VAR_014050 p.Leu1407Arg Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014051 p.Arg1624Trp Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014052 p.Ser1664Phe Disease rs28937907 Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014053 p.Val1741Met Disease rs28939099 Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014054 p.Gln1917Arg Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014055 p.Glu1995Gly Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014056 p.Ile2331Lys Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014057 p.Thr2938Met Polymorphism - - PKHD1 P08F94 VAR_014058 p.Ile2957Thr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014059 p.Ser3018Phe Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014060 p.Asp3139Tyr Polymorphism rs45503297 - PKHD1 P08F94 VAR_014061 p.Ile3553Thr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_014062 p.Val3960Ile Polymorphism rs34548196 - PKHD1 P08F94 VAR_014063 p.Gln4048Arg Polymorphism rs9381994 - PKHD1 P08F94 VAR_018520 p.Ala17Val Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018521 p.Ile25Val Polymorphism - - PKHD1 P08F94 VAR_018522 p.Gly223Ser Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018523 p.Ile307Thr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018524 p.Gly326Val Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018526 p.Glu457Asp Polymorphism - - PKHD1 P08F94 VAR_018527 p.Ile473Ser Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018528 p.Tyr486His Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018529 p.Arg488Pro Polymorphism - - PKHD1 P08F94 VAR_018530 p.Arg496Pro Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018531 p.Thr579Met Polymorphism rs45500692 - PKHD1 P08F94 VAR_018532 p.Trp656Cys Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018533 p.Asp703Asn Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018534 p.Val732Phe Polymorphism - - PKHD1 P08F94 VAR_018535 p.Pro739Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018536 p.Ile757Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018537 p.Pro805Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018538 p.Asn830Ser Polymorphism - - PKHD1 P08F94 VAR_018539 p.Thr899Pro Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018540 p.Met997Lys Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018541 p.Ala1030Glu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018542 p.Gly1123Ser Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018543 p.Tyr1136Cys Polymorphism rs41273726 - PKHD1 P08F94 VAR_018544 p.Ala1150Pro Polymorphism - - PKHD1 P08F94 VAR_018545 p.Ser1283Leu Polymorphism - - PKHD1 P08F94 VAR_018546 p.Pro1389Thr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018547 p.Cys1472Tyr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018548 p.Pro1486Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018549 p.Ser1584Ile Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018550 p.Leu1709Phe Polymorphism rs45517932 - PKHD1 P08F94 VAR_018551 p.Thr1781Ile Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018552 p.Val1789Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018553 p.Ser1833Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018554 p.Tyr1838Cys Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018555 p.Ser1867Asn Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018556 p.Leu1870Val Polymorphism rs2435322 - PKHD1 P08F94 VAR_018557 p.Asp1942Gly Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018558 p.Gly1971Asp Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018559 p.Ile1998Thr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018560 p.Val2032Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018561 p.Leu2134Pro Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018562 p.Ile2303Phe Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018563 p.Cys2422Gly Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018564 p.Ala2615Gly Polymorphism - - PKHD1 P08F94 VAR_018565 p.Thr2641Ala Disease rs7766366 Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018566 p.Cys2688Phe Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018567 p.Asp2761Tyr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018568 p.Leu2772Pro Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018569 p.Ser2861Gly Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018570 p.Tyr2863Cys Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018571 p.Thr2869Lys Polymorphism - - PKHD1 P08F94 VAR_018572 p.Asp2962Gly Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018573 p.Ser2983Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018574 p.Val3036Gly Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018575 p.Ala3072Val Polymorphism - - PKHD1 P08F94 VAR_018576 p.Ile3081Val Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018577 p.Asp3088Asn Polymorphism - - PKHD1 P08F94 VAR_018578 p.Arg3107Pro Polymorphism - - PKHD1 P08F94 VAR_018579 p.His3124Tyr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018580 p.Arg3143Ile Polymorphism - - PKHD1 P08F94 VAR_018581 p.Ile3167Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018582 p.Asn3175Asp Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018583 p.Asn3175Ser Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018584 p.Ile3177Thr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018585 p.Ser3289Ile Polymorphism - - PKHD1 P08F94 VAR_018586 p.Asp3293Val Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018587 p.Cys3346Arg Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018588 p.Val3440Asp Polymorphism - - PKHD1 P08F94 VAR_018589 p.Ile3468Val Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018590 p.Val3471Gly Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018591 p.Arg3482Cys Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018592 p.Glu3502Val Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018593 p.Ser3505Arg Polymorphism - - PKHD1 P08F94 VAR_018594 p.Glu3529Gln Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018595 p.Glu3551Lys Polymorphism - - PKHD1 P08F94 VAR_018596 p.Cys3622Tyr Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018597 p.Pro3783Ser Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_018598 p.Arg3842Leu Polymorphism - - PKHD1 P08F94 VAR_018599 p.Gln3899Arg Polymorphism rs4715227 - PKHD1 P08F94 VAR_027439 p.Phe372Leu Disease - Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] PKHD1 P08F94 VAR_027440 p.Asp3052Tyr Polymorphism rs765526 - PKHD1 P08F94 VAR_027441 p.Val3837Ile Polymorphism rs9474034 - PKHD1 P08F94 VAR_027442 p.Ile3905Asn Polymorphism rs2661488 - PKHD1 P08F94 VAR_027443 p.Arg3913His Polymorphism rs2661487 - PKHD1 P08F94 VAR_036228 p.Arg19His Unclassified - A colorectal cancer sample PKHD1 P08F94 VAR_036229 p.Arg1081Cys Unclassified - A colorectal cancer sample PKHD1 P08F94 VAR_036230 p.Leu1096Arg Unclassified - A colorectal cancer sample PKHD1 P08F94 VAR_036231 p.Glu1806Lys Unclassified - A colorectal cancer sample PKHD1 P08F94 VAR_051282 p.Arg760Trp Polymorphism rs9370096 - PKLR P30613 VAR_004028 p.Met107Thr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004030 p.Val134Asp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004031 p.Leu155Pro Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004032 p.Glu172Gln Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004033 p.Arg163Cys Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004035 p.Gly275Arg Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004036 p.Asp281Asn Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004037 p.Phe287Val Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004038 p.Ile314Thr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004039 p.Asp331Glu Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004040 p.Gly332Ser Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004041 p.Ala336Ser Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004042 p.Arg337Pro Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004043 p.Arg337Gln Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004044 p.Asp339His Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004045 p.Gly341Ala Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004047 p.Ile357Thr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004048 p.Arg359Cys Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004049 p.Arg359His Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004050 p.Asn361Asp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004051 p.Val368Phe Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004052 p.Thr384Met Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004053 p.Ala392Thr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004054 p.Asn393Lys Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004055 p.Asn393Ser Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004057 p.Thr408Ile Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004058 p.Gln421Lys Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004059 p.Arg426Gln Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004060 p.Arg426Trp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004061 p.Ala431Thr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004062 p.Gly458Asp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004063 p.Ala459Val Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004064 p.Val460Met Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004065 p.Ala468Val Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004066 p.Arg486Trp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004067 p.Arg490Trp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004068 p.Ala495Val Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004069 p.Arg498Cys Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004070 p.Arg498His Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004071 p.Arg510Gln Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004072 p.Arg532Gln Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004073 p.Arg532Trp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004074 p.Val552Met Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004075 p.Arg559Gly Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_004076 p.Asn566Lys Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011435 p.Gly37Glu Disease - Pyruvate kinase hyperactivity (PKHYP) [MIM:102900] PKLR P30613 VAR_011436 p.Ser80Pro Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011437 p.Arg86Pro Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011438 p.Ile90Asn Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011439 p.Gly95Arg Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011440 p.Gly111Arg Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011441 p.Ala115Pro Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011442 p.Ser120Phe Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011443 p.Ser130Tyr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011444 p.Gly159Val Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011445 p.Gly222Ala Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011446 p.Asp293Asn Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011447 p.Gly263Arg Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011448 p.Gly263Trp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011449 p.Val288Leu Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011450 p.Ala295Val Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011451 p.Ile310Asn Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011452 p.Glu315Lys Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011453 p.Asp331Asn Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011454 p.Gly341Asp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011455 p.Ile342Phe Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011456 p.Lys348Asn Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011458 p.Gly364Asp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011459 p.Ser376Ile Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011460 p.Glu387Gly Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011461 p.Asp390Asn Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011462 p.Ala394Asp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011463 p.Ala394Val Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011464 p.Thr408Ala Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011465 p.Glu427Ala Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011466 p.Glu427Asp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011467 p.Thr477Ala Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011468 p.Ser485Phe Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011469 p.Arg488Gln Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011470 p.Ala495Thr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011471 p.Arg504Leu Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011472 p.Gly511Arg Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011473 p.Arg531Cys Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011474 p.Ile153Thr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011475 p.Ile219Thr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011476 p.Val335Met Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011477 p.Ala352Asp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011478 p.Arg385Trp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011479 p.Ala468Gly Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011480 p.Arg479His Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011481 p.Gly557Ala Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_011482 p.Arg569Gln Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_018848 p.Val506Ile Polymorphism rs8177988 - PKLR P30613 VAR_058467 p.Arg40Trp Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058469 p.Leu73Pro Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058470 p.Ala154Thr Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058471 p.Arg163Leu Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058472 p.Gly165Val Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058473 p.Leu272Val Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058474 p.Val320Leu Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058475 p.Gly358Glu Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKLR P30613 VAR_058476 p.Leu374Pro Disease - Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] PKM P14618 VAR_033067 p.Gly204Val Polymorphism rs17853396 - PKMYT1 Q99640 VAR_019928 p.Arg140Cys Polymorphism rs4149796 - PKMYT1 Q99640 VAR_019929 p.Pro417Arg Polymorphism rs4149800 - PKMYT1 Q99640 VAR_019930 p.Val445Ala Polymorphism rs10546 - PKMYT1 Q99640 VAR_041034 p.Glu103Gln Polymorphism rs55834293 - PKMYT1 Q99640 VAR_041035 p.Arg246His Polymorphism rs35192104 - PKMYT1 Q99640 VAR_041036 p.Glu351Lys Polymorphism rs56382954 - PKN1 Q16512 VAR_014937 p.Val901Ile Polymorphism rs10846 - PKN1 Q16512 VAR_042337 p.Arg185Cys Unclassified - A metastatic melanoma sample PKN1 Q16512 VAR_042338 p.Ala197Glu Polymorphism - - PKN1 Q16512 VAR_042339 p.Arg436Trp Polymorphism rs35132656 - PKN1 Q16512 VAR_042340 p.Arg520Gln Polymorphism rs56273055 - PKN1 Q16512 VAR_042341 p.Leu555Ile Polymorphism rs34309238 - PKN1 Q16512 VAR_042342 p.Arg635Gln Polymorphism rs35416389 - PKN1 Q16512 VAR_042343 p.Ile718Val Polymorphism rs2230539 - PKN1 Q16512 VAR_042344 p.Phe873Leu Unclassified - A breast infiltrating ductal carcinoma sample PKN1 Q16512 VAR_042345 p.Ala921Val Unclassified - A colorectal adenocarcinoma sample PKN2 Q16513 VAR_050562 p.Glu94Asp Polymorphism rs12039846 - PKN2 Q16513 VAR_050563 p.Ala197Glu Polymorphism rs35207128 - PKN2 Q16513 VAR_050564 p.Gln655Arg Polymorphism rs12085658 - PKN3 Q6P5Z2 VAR_042346 p.Ala180Glu Polymorphism rs56251280 - PKN3 Q6P5Z2 VAR_050565 p.Val404Leu Polymorphism rs12932 - PKNOX1 P55347 VAR_036440 p.Val265Ile Unclassified - A colorectal cancer sample PKNOX1 P55347 VAR_049588 p.Arg126His Polymorphism rs9976017 - PKNOX1 P55347 VAR_049589 p.Thr216Ala Polymorphism rs17115709 - PKNOX2 Q96KN3 VAR_049590 p.Glu110Lys Polymorphism rs34936365 - PKP1 Q13835 VAR_033526 p.Arg116His Polymorphism rs34626929 - PKP1 Q13835 VAR_033527 p.Cys161Tyr Polymorphism rs34704938 - PKP1 Q13835 VAR_033528 p.Ile196Val Polymorphism rs35507614 - PKP1 Q13835 VAR_053811 p.Gly415Asp Polymorphism rs1626370 - PKP1 Q13835 VAR_062171 p.Ala463Val Polymorphism rs10920171 - PKP2 Q99959 VAR_021148 p.Ser140Phe Unclassified - - PKP2 Q99959 VAR_021149 p.Ser615Phe Disease - Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_021150 p.Lys654Gln Disease - Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_021151 p.Cys796Arg Disease - Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_063108 p.Leu366Pro Polymorphism rs1046116 - PKP2 Q99959 VAR_065701 p.Asp26Asn Unclassified - - PKP2 Q99959 VAR_065702 p.Glu58Asp Polymorphism - - PKP2 Q99959 VAR_065703 p.Gln62Lys Unclassified - - PKP2 Q99959 VAR_065704 p.Ser70Ile Polymorphism - - PKP2 Q99959 VAR_065705 p.Glu137Lys Disease - Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065706 p.Ser169Gly Disease - Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065707 p.Ala195Val Polymorphism - - PKP2 Q99959 VAR_065708 p.Pro276Ser Polymorphism - - PKP2 Q99959 VAR_065709 p.Thr338Ala Unclassified - - PKP2 Q99959 VAR_065710 p.Ala372Pro Polymorphism - - PKP2 Q99959 VAR_065711 p.Phe424Ser Disease - Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065712 p.Gly489Arg Polymorphism - - PKP2 Q99959 VAR_065713 p.Thr526Met Polymorphism - - PKP2 Q99959 VAR_065714 p.Ile531Ser Polymorphism - - PKP2 Q99959 VAR_065715 p.Val587Ile Unclassified - - PKP2 Q99959 VAR_065716 p.Tyr631Cys Disease - Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] PKP2 Q99959 VAR_065717 p.Gly673Val Unclassified - - PKP2 Q99959 VAR_065718 p.Leu787Phe Disease - Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] PLA1A Q53H76 VAR_030126 p.Ser23Ile Polymorphism rs11929241 - PLA1A Q53H76 VAR_030127 p.Arg110His Polymorphism - - PLA1A Q53H76 VAR_030128 p.Ser284Asn Polymorphism rs2692622 - PLA2G1B P04054 VAR_011911 p.Asp16Ala Polymorphism rs5632 - PLA2G1B P04054 VAR_011912 p.Asn89Thr Polymorphism rs5635 - PLA2G1B P04054 VAR_011913 p.Asn89Lys Polymorphism rs5636 - PLA2G2A P14555 VAR_018953 p.His19Tyr Polymorphism rs11573162 - PLA2G2C Q5R387 VAR_039057 p.Gln139Arg Polymorphism rs6426616 - PLA2G2D Q9UNK4 VAR_012741 p.Ser80Gly Polymorphism rs584367 - PLA2G2D Q9UNK4 VAR_055387 p.Gln65His Polymorphism - - PLA2G2D Q9UNK4 VAR_055388 p.His73Arg Polymorphism - - PLA2G2D Q9UNK4 VAR_055389 p.His96Arg Polymorphism - - PLA2G2D Q9UNK4 VAR_055390 p.Arg121Cys Polymorphism - - PLA2G2D Q9UNK4 VAR_055391 p.Arg121Leu Polymorphism - - PLA2G3 Q9NZ20 VAR_020288 p.Leu157Val Polymorphism rs2074735 - PLA2G3 Q9NZ20 VAR_024555 p.Ser70Ala Polymorphism rs2232176 - PLA2G3 Q9NZ20 VAR_024556 p.Glu116Gln Polymorphism rs2074734 - PLA2G3 Q9NZ20 VAR_024557 p.Ser322Arg Polymorphism rs2072193 - PLA2G3 Q9NZ20 VAR_034366 p.Arg378Gln Polymorphism rs2232183 - PLA2G3 Q9NZ20 VAR_056581 p.His307Tyr Polymorphism rs2232180 - PLA2G4A P47712 VAR_018424 p.Arg651Lys Polymorphism rs2307198 - PLA2G4A P47712 VAR_018760 p.Val224Ile Polymorphism rs12720588 - PLA2G4A P47712 VAR_029276 p.Gly103Arg Polymorphism rs28395828 - PLA2G4A P47712 VAR_035826 p.His442Gln Unclassified - A breast cancer sample PLA2G4A P47712 VAR_062128 p.Ile637Val Polymorphism rs28395831 - PLA2G4B P0C869 VAR_027047 p.Arg191Cys Polymorphism rs3816533 - PLA2G4B P0C869 VAR_027048 p.Met239Ile Polymorphism rs2290552 - PLA2G4B P0C869 VAR_034365 p.Arg391His Polymorphism rs34807597 - PLA2G4B P0C869 VAR_060082 p.Thr591Ile Polymorphism rs36126315 - PLA2G4C Q9UP65 VAR_018420 p.Ala38Pro Polymorphism rs2307279 - PLA2G4C Q9UP65 VAR_018421 p.Ile143Val Polymorphism rs2303744 - PLA2G4C Q9UP65 VAR_018422 p.Ser203Pro Polymorphism rs156631 - PLA2G4C Q9UP65 VAR_018423 p.Arg430Cys Polymorphism - - PLA2G4C Q9UP65 VAR_018761 p.Glu21Lys Polymorphism rs11564522 - PLA2G4C Q9UP65 VAR_018762 p.Ala127Val Polymorphism rs11564532 - PLA2G4C Q9UP65 VAR_018763 p.Val142Phe Polymorphism rs11564534 - PLA2G4C Q9UP65 VAR_018764 p.Arg148Gly Polymorphism rs2307282 - PLA2G4C Q9UP65 VAR_018765 p.Pro151Leu Polymorphism rs11564538 - PLA2G4C Q9UP65 VAR_018766 p.Thr226Ser Polymorphism rs11564541 - PLA2G4C Q9UP65 VAR_018767 p.Thr360Pro Polymorphism rs11564620 - PLA2G4C Q9UP65 VAR_018768 p.Asp411Asn Polymorphism rs11564638 - PLA2G4D Q86XP0 VAR_027049 p.Arg573Trp Polymorphism rs17747505 - PLA2G4D Q86XP0 VAR_027050 p.Ala649Gly Polymorphism rs17690899 - PLA2G4D Q86XP0 VAR_027051 p.Arg747Gly Polymorphism rs2459692 - PLA2G4D Q86XP0 VAR_057676 p.Pro275Arg Polymorphism rs11635685 - PLA2G4D Q86XP0 VAR_057677 p.Ser434Thr Polymorphism rs4924618 - PLA2G4D Q86XP0 VAR_057678 p.Arg783Gln Polymorphism rs750052 - PLA2G4D Q86XP0 VAR_057679 p.Arg807Gln Polymorphism rs750051 - PLA2G4E Q3MJ16 VAR_027052 p.Asn388Ser Polymorphism rs4924595 - PLA2G4E Q3MJ16 VAR_027053 p.Ala681Thr Polymorphism rs8030775 - PLA2G4F Q68DD2 VAR_027054 p.Met740Val Polymorphism rs1356410 - PLA2G4F Q68DD2 VAR_053553 p.Gly30Val Polymorphism rs636604 - PLA2G6 O60733 VAR_018961 p.Val58Ile Polymorphism rs11570605 - PLA2G6 O60733 VAR_018962 p.Arg63Gly Polymorphism rs11570606 - PLA2G6 O60733 VAR_018963 p.Arg70Gln Polymorphism rs11570607 - PLA2G6 O60733 VAR_018964 p.Asp183Asn Polymorphism rs11570646 - PLA2G6 O60733 VAR_018965 p.Ala343Thr Polymorphism rs11570680 - PLA2G6 O60733 VAR_029371 p.Val310Glu Disease - Neurodegeneration with brain iron accumulation type 2A (NBIA2A) [MIM:256600] PLA2G6 O60733 VAR_029372 p.Lys545Thr Disease - Neurodegeneration with brain iron accumulation type 2B (NBIA2B) [MIM:610217] PLA2G6 O60733 VAR_029373 p.Arg632Trp Disease - Neurodegeneration with brain iron accumulation type 2B (NBIA2B) [MIM:610217] PLA2G6 O60733 VAR_037903 p.Ser774Thr Polymorphism rs34184838 - PLA2G6 O60733 VAR_062530 p.Arg741Gln Disease - Parkinson disease type 14 (PARK14) [MIM:612953] PLA2G6 O60733 VAR_062531 p.Arg747Trp Disease - Parkinson disease type 14 (PARK14) [MIM:612953] PLA2G7 Q13093 VAR_004268 p.Val279Phe Disease rs16874954 Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278] PLA2G7 Q13093 VAR_011583 p.Arg92His Polymorphism rs1805017 - PLA2G7 Q13093 VAR_011584 p.Ile198Thr Polymorphism rs1805018 - PLA2G7 Q13093 VAR_011585 p.Gln281Arg Disease - Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278] PLA2G7 Q13093 VAR_011586 p.Val379Ala Polymorphism rs1051931 - PLA2G7 Q13093 VAR_047970 p.Leu45Pro Polymorphism rs45521937 - PLA2G7 Q13093 VAR_047971 p.Lys191Asn Polymorphism rs45454695 - PLA2R1 Q13018 VAR_037203 p.Arg142Gln Polymorphism rs12327936 - PLA2R1 Q13018 VAR_037204 p.Pro177Ser Polymorphism rs13394676 - PLA2R1 Q13018 VAR_037205 p.Ile279Val Polymorphism rs965290 - PLA2R1 Q13018 VAR_037206 p.Met292Val Polymorphism rs3749117 - PLA2R1 Q13018 VAR_037207 p.His300Asp Polymorphism rs35771982 - PLA2R1 Q13018 VAR_037208 p.Arg404His Polymorphism rs33985939 - PLA2R1 Q13018 VAR_037209 p.Gly1106Ser Polymorphism rs3828323 - PLA2R1 Q13018 VAR_061354 p.Ala370Glu Polymorphism rs34916310 - PLAC8L1 A1L4L8 VAR_037245 p.Cys11Ser Polymorphism rs12187913 - PLAG1 Q6DJT9 VAR_033212 p.Pro458Thr Polymorphism rs35883156 - PLAGL1 Q9UM63 VAR_052729 p.Ala272Val Polymorphism rs35263016 - PLAT P00750 VAR_011783 p.Arg164Trp Polymorphism rs2020921 - PLAT P00750 VAR_020181 p.Ala34Asp Polymorphism rs8178733 - PLAT P00750 VAR_038732 p.Arg136Ser Polymorphism rs8178747 - PLAT P00750 VAR_038733 p.Ala146Thr Polymorphism rs8178748 - PLAU P00749 VAR_006722 p.Pro141Leu Polymorphism rs2227564 - PLAU P00749 VAR_013102 p.Ile214Met Polymorphism - - PLAU P00749 VAR_038730 p.Val15Leu Polymorphism rs2227580 - PLAU P00749 VAR_038731 p.Lys231Gln Polymorphism rs2227567 - PLAUR Q03405 VAR_014922 p.Leu317Pro Polymorphism rs4760 - PLAUR Q03405 VAR_016322 p.Glu55Gly Polymorphism rs4251813 - PLAUR Q03405 VAR_016323 p.Thr86Ala Polymorphism rs399145 - PLAUR Q03405 VAR_016324 p.Arg105Gln Polymorphism rs4251878 - PLAUR Q03405 VAR_016325 p.Lys220Arg Polymorphism rs2302524 - PLAUR Q03405 VAR_016326 p.Asn281Lys Polymorphism rs4251921 - PLAUR Q03405 VAR_052698 p.Asp297Ala Polymorphism rs16976608 - PLB1 Q6P1J6 VAR_039793 p.Val212Leu Polymorphism rs6753929 - PLB1 Q6P1J6 VAR_039794 p.Met708Val Polymorphism rs11681826 - PLB1 Q6P1J6 VAR_039795 p.Gly821Arg Polymorphism rs10201128 - PLB1 Q6P1J6 VAR_039796 p.His879Asp Polymorphism rs7601771 - PLB1 Q6P1J6 VAR_039797 p.Ala1318Val Polymorphism rs2199619 - PLB1 Q6P1J6 VAR_061358 p.Ala987Val Polymorphism rs34289907 - PLBD1 Q6P4A8 VAR_032072 p.Val265Ile Polymorphism rs7957558 - PLBD1 Q6P4A8 VAR_032073 p.Val377Ala Polymorphism rs2287541 - PLBD1 Q6P4A8 VAR_032074 p.Pro534Ala Polymorphism rs1600 - PLBD2 Q8NHP8 VAR_032075 p.Arg524Cys Polymorphism rs12425042 - PLBD2 Q8NHP8 VAR_062187 p.Gln54Pro Polymorphism rs7965471 - PLCB1 Q9NQ66 VAR_036547 p.Ala907Pro Unclassified - A breast cancer sample PLCB1 Q9NQ66 VAR_050541 p.Glu854Lys Polymorphism rs2076413 - PLCB2 Q00722 VAR_047509 p.Asn324Ile Polymorphism rs45628633 - PLCB2 Q00722 VAR_047510 p.Arg598His Polymorphism rs8025153 - PLCB2 Q00722 VAR_047511 p.Pro664Leu Polymorphism rs9972332 - PLCB2 Q00722 VAR_047512 p.Gly712Arg Polymorphism rs28395835 - PLCB2 Q00722 VAR_047513 p.Glu1095Gly Polymorphism rs936212 - PLCB3 Q01970 VAR_029229 p.Arg483His Polymorphism rs12146487 - PLCB4 Q15147 VAR_056694 p.Ala21Thr Polymorphism rs6077510 - PLCB4 Q15147 VAR_056695 p.Gly710Ser Polymorphism rs6118603 - PLCD1 P51178 VAR_046560 p.Arg257His Polymorphism rs933135 - PLCD3 Q8N3E9 VAR_035316 p.Pro652Leu Polymorphism rs734921 - PLCE1 Q9P212 VAR_029883 p.Ser1484Leu Disease - Nephrotic syndrome type 3 (NPHS3) [MIM:610725] PLCE1 Q9P212 VAR_031843 p.Ser469Thr Polymorphism rs17508082 - PLCE1 Q9P212 VAR_031844 p.Arg548Leu Polymorphism rs17417407 - PLCE1 Q9P212 VAR_031845 p.Arg1575Pro Polymorphism rs2274224 - PLCE1 Q9P212 VAR_031846 p.Thr1777Ile Polymorphism rs3765524 - PLCE1 Q9P212 VAR_031847 p.His1927Arg Polymorphism rs2274223 - PLCG1 P19174 VAR_011908 p.Ile813Thr Polymorphism rs753381 - PLCG1 P19174 VAR_022130 p.Ser279Gly Polymorphism rs2228246 - PLCG1 P19174 VAR_025213 p.Thr209Asn Polymorphism rs2229348 - PLCG1 P19174 VAR_025214 p.Ser739Thr Polymorphism - - PLCG2 P16885 VAR_031560 p.His244Arg Polymorphism rs11548656 - PLCG2 P16885 VAR_031561 p.Arg268Trp Polymorphism rs17537869 - PLCG2 P16885 VAR_047427 p.Thr541Ala Polymorphism rs11548657 - PLCG2 P16885 VAR_047428 p.Asp883Tyr Polymorphism rs17856213 - PLCL1 Q15111 VAR_038993 p.Asp445Asn Polymorphism rs45506698 - PLCL1 Q15111 VAR_038994 p.Pro454Ser Polymorphism rs45506696 - PLCL1 Q15111 VAR_038995 p.Ser546Phe Polymorphism rs45596936 - PLCL1 Q15111 VAR_038996 p.Val667Ile Polymorphism rs1064213 - PLCL1 Q15111 VAR_038997 p.Trp684Cys Polymorphism rs6741084 - PLCL1 Q15111 VAR_038998 p.Ser937Asn Polymorphism rs45452996 - PLCL2 Q9UPR0 VAR_032507 p.Gln211Arg Polymorphism rs17853614 - PLCL2 Q9UPR0 VAR_032508 p.Val635Met Polymorphism rs17857109 - PLCL2 Q9UPR0 VAR_032509 p.Ala742Val Polymorphism rs17857110 - PLCL2 Q9UPR0 VAR_032510 p.Pro809His Polymorphism rs17853612 - PLCL2 Q9UPR0 VAR_032511 p.His890Arg Polymorphism rs17853613 - PLCZ1 Q86YW0 VAR_050542 p.Ser500Leu Polymorphism rs10505830 - PLD1 Q13393 VAR_022056 p.Ala622Ser Polymorphism rs2290480 - PLD1 Q13393 VAR_022057 p.Val820Met Polymorphism rs2287579 - PLD1 Q13393 VAR_034387 p.Pro49Ala Polymorphism rs9819927 - PLD1 Q13393 VAR_051703 p.Val1024Ile Polymorphism rs9827333 - PLD2 O14939 VAR_036503 p.Gln807Glu Unclassified - A breast cancer sample PLD2 O14939 VAR_051704 p.Arg172Cys Polymorphism rs2286672 - PLD2 O14939 VAR_051705 p.Thr577Ile Polymorphism rs1052748 - PLD2 O14939 VAR_051706 p.Ala804Thr Polymorphism rs11545163 - PLD2 O14939 VAR_051707 p.Gly821Arg Polymorphism rs3764897 - PLD2 O14939 VAR_059774 p.Gly821Ser Polymorphism rs3764897 - PLD2 O14939 VAR_061750 p.Glu632Gly Polymorphism rs17854914 - PLD4 Q96BZ4 VAR_031119 p.Glu27Gln Polymorphism rs2841280 - PLD4 Q96BZ4 VAR_031120 p.Val135Met Polymorphism rs3803295 - PLD4 Q96BZ4 VAR_061751 p.Cys16Arg Polymorphism rs894037 - PLD6 Q8N2A8 VAR_039951 p.Leu42Pro Polymorphism rs17856924 - PLD6 Q8N2A8 VAR_039952 p.Arg108His Polymorphism rs11551966 - PLEC Q15149 VAR_015817 p.Arg2110Trp Disease - Epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:131950] PLEC Q15149 VAR_053585 p.Ala641Val Polymorphism rs11136336 - PLEC Q15149 VAR_053586 p.Arg2150Trp Polymorphism rs34893635 - PLEC Q15149 VAR_053587 p.Ala2194Val Polymorphism rs7002002 - PLEC Q15149 VAR_053588 p.Ser2791Pro Polymorphism rs7833924 - PLEC Q15149 VAR_053589 p.Arg2821Trp Polymorphism rs35723243 - PLEC Q15149 VAR_053590 p.Arg2969His Polymorphism rs6558407 - PLEC Q15149 VAR_053591 p.Val3162Ile Polymorphism rs35027700 - PLEC Q15149 VAR_053592 p.Ala3171Val Polymorphism rs35858667 - PLEC Q15149 VAR_053593 p.Thr3486Met Polymorphism rs34725742 - PLEC Q15149 VAR_053594 p.Gly3490Ala Polymorphism rs35261863 - PLEC Q15149 VAR_060088 p.Leu1321Val Polymorphism rs3135109 - PLEC Q15149 VAR_060089 p.Arg1386Gln Polymorphism rs11136334 - PLEC Q15149 VAR_062133 p.His1459Arg Polymorphism rs55895668 - PLEK2 Q9NYT0 VAR_050504 p.Thr80Met Polymorphism rs34300264 - PLEKHA1 Q9HB21 VAR_024562 p.Thr320Ala Polymorphism rs1045216 - PLEKHA2 Q9HB19 VAR_061516 p.Ile186Asn Polymorphism rs59439576 - PLEKHA4 Q9H4M7 VAR_056667 p.Ile37Val Polymorphism rs506425 - PLEKHA4 Q9H4M7 VAR_056668 p.Arg597Gln Polymorphism rs12460394 - PLEKHA4 Q9H4M7 VAR_056669 p.Thr714Ala Polymorphism rs34460869 - PLEKHA4 Q9H4M7 VAR_056670 p.Gly742Val Polymorphism rs35965411 - PLEKHA6 Q9Y2H5 VAR_037145 p.Val43Ile Polymorphism rs10900571 - PLEKHA6 Q9Y2H5 VAR_037146 p.Arg837Lys Polymorphism rs10900562 - PLEKHA7 Q6IQ23 VAR_032346 p.Leu241Ile Polymorphism rs35908144 - PLEKHA7 Q6IQ23 VAR_032347 p.Ala248Val Polymorphism rs16933529 - PLEKHA7 Q6IQ23 VAR_032348 p.Gln279Arg Polymorphism rs369819 - PLEKHA7 Q6IQ23 VAR_032349 p.Val693Ile Polymorphism rs34556458 - PLEKHA7 Q6IQ23 VAR_061517 p.Ser689Arg Polymorphism rs61133161 - PLEKHA8 Q96JA3 VAR_035444 p.Val368Glu Unclassified - A breast cancer sample PLEKHG1 Q9ULL1 VAR_051988 p.Gln787Arg Polymorphism rs17080381 - PLEKHG1 Q9ULL1 VAR_051989 p.Val1071Ala Polymorphism rs17080410 - PLEKHG1 Q9ULL1 VAR_051990 p.Leu1321Ser Polymorphism rs17054318 - PLEKHG1 Q9ULL1 VAR_061797 p.Gln1377Pro Polymorphism rs58786678 - PLEKHG2 Q9H7P9 VAR_035324 p.Thr540Ile Polymorphism rs35904695 - PLEKHG2 Q9H7P9 VAR_035325 p.Ile622Val Polymorphism rs16973407 - PLEKHG2 Q9H7P9 VAR_035326 p.Arg647His Polymorphism rs10407035 - PLEKHG2 Q9H7P9 VAR_035327 p.Arg992Lys Polymorphism rs31726 - PLEKHG2 Q9H7P9 VAR_035328 p.Ala1302Thr Polymorphism rs34603507 - PLEKHG2 Q9H7P9 VAR_035329 p.Pro1329Ala Polymorphism rs31728 - PLEKHG3 A1L390 VAR_035330 p.Arg1036Trp Polymorphism rs229649 - PLEKHG3 A1L390 VAR_061518 p.Arg1014His Polymorphism rs41309246 - PLEKHG4B Q96PX9 VAR_056672 p.Ala72Thr Polymorphism rs12523402 - PLEKHG4B Q96PX9 VAR_056673 p.Gly149Ser Polymorphism rs11949577 - PLEKHG4B Q96PX9 VAR_056674 p.Arg220His Polymorphism rs13436090 - PLEKHG4B Q96PX9 VAR_056675 p.Ala660Val Polymorphism rs3810869 - PLEKHG4B Q96PX9 VAR_059547 p.Val37Ala Polymorphism rs12516846 - PLEKHG4B Q96PX9 VAR_060453 p.Thr669Pro Polymorphism rs29674 - PLEKHG4B Q96PX9 VAR_060454 p.Arg1076Gln Polymorphism rs4956987 - PLEKHG4B Q96PX9 VAR_060455 p.Arg1146Gly Polymorphism rs12519352 - PLEKHG4 Q58EX7 VAR_050509 p.Thr412Ile Polymorphism rs11860295 - PLEKHG4 Q58EX7 VAR_050510 p.Asp525Gly Polymorphism rs8044843 - PLEKHG4 Q58EX7 VAR_050511 p.Arg830His Polymorphism rs3868142 - PLEKHG4 Q58EX7 VAR_050512 p.Ser1090Thr Polymorphism rs17680862 - PLEKHG4 Q58EX7 VAR_061519 p.Arg1064His Polymorphism rs56077142 - PLEKHG5 O94827 VAR_035357 p.Phe703Ser Disease - Distal spinal muscular atrophy autosomal recessive type 4 (DSMA4) [MIM:611067] PLEKHG6 Q3KR16 VAR_036710 p.Ala35Thr Polymorphism rs740842 - PLEKHG7 Q6ZR37 VAR_050513 p.Asp99Gly Polymorphism rs17790310 - PLEKHG7 Q6ZR37 VAR_050514 p.Met212Thr Polymorphism rs924326 - PLEKHH1 Q9ULM0 VAR_037094 p.Asn75Ser Polymorphism rs7150973 - PLEKHH1 Q9ULM0 VAR_037095 p.Gln113Leu Polymorphism rs3825723 - PLEKHH1 Q9ULM0 VAR_037096 p.Arg322Gln Polymorphism rs2236235 - PLEKHH1 Q9ULM0 VAR_037097 p.Thr430Ala Polymorphism rs3825725 - PLEKHH1 Q9ULM0 VAR_037098 p.Met438Val Polymorphism rs17104428 - PLEKHH1 Q9ULM0 VAR_037099 p.His735Arg Polymorphism rs11158685 - PLEKHH2 Q8IVE3 VAR_035344 p.Pro481Thr Polymorphism rs17031297 - PLEKHH2 Q8IVE3 VAR_035345 p.Arg1069Lys Polymorphism rs2278358 - PLEKHH2 Q8IVE3 VAR_035346 p.Asn1217Ser Polymorphism rs17031368 - PLEKHH2 Q8IVE3 VAR_055542 p.Met228Val Polymorphism rs10175843 - PLEKHH3 Q7Z736 VAR_061520 p.Gln547His Polymorphism rs8071056 - PLEKHM1 Q9Y4G2 VAR_036932 p.Arg377His Polymorphism rs1859059 - PLEKHM2 Q8IWE5 VAR_036950 p.Ile32Thr Polymorphism rs12091750 - PLEKHN1 Q494U1 VAR_036946 p.Arg539Pro Polymorphism rs3829740 - PLEKHO1 Q53GL0 VAR_037034 p.Pro21Ala Polymorphism rs2306235 - PLEKHO2 Q8TD55 VAR_036964 p.Pro290Ser Polymorphism rs2010875 - PLEKHS1 Q5SXH7 VAR_039275 p.Val337Ile Polymorphism rs34024791 - PLEK P08567 VAR_005524 p.Trp92Arg Polymorphism - - PLEK P08567 VAR_027797 p.Arg5Trp Polymorphism rs17035364 - PLEK P08567 VAR_027798 p.Lys97Asn Polymorphism rs3816281 - PLEK P08567 VAR_027799 p.Arg340Lys Polymorphism rs1063479 - PLEK P08567 VAR_056666 p.Lys108Gln Polymorphism rs34515106 - PLET1 Q6UQ28 VAR_039321 p.Ser142Pro Polymorphism rs2564872 - PLG P00747 VAR_006627 p.Val374Phe Disease - Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_006628 p.Ser591Pro Disease - Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_006629 p.Ala620Thr Disease - Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_006630 p.Gly751Arg Disease - Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_011779 p.Ile46Arg Polymorphism rs1049573 - PLG P00747 VAR_011780 p.Lys453Ile Polymorphism rs1804181 - PLG P00747 VAR_016287 p.Glu57Lys Polymorphism rs4252070 - PLG P00747 VAR_016288 p.His133Gln Polymorphism rs4252186 - PLG P00747 VAR_016289 p.Arg261His Polymorphism rs4252187 - PLG P00747 VAR_016290 p.Arg408Trp Polymorphism rs4252119 - PLG P00747 VAR_016291 p.Asp472Asn Polymorphism rs4252125 - PLG P00747 VAR_016292 p.Ala494Val Polymorphism rs4252128 - PLG P00747 VAR_016293 p.Arg523Trp Polymorphism rs4252129 - PLG P00747 VAR_018657 p.Lys38Glu Disease - Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_018658 p.Leu147Pro Disease - Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_018659 p.Arg235His Disease - Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_018660 p.Arg532His Disease - Plasminogen deficiency (PLGD) [MIM:217090] PLG P00747 VAR_031213 p.Val676Asp Polymorphism rs17857492 - PLG P00747 VAR_033653 p.Arg134Lys Polymorphism rs2817 - PLIN1 O60240 VAR_055046 p.Pro194Ala Polymorphism rs6496589 - PLIN1 O60240 VAR_055047 p.Lys210Glu Polymorphism rs17852910 - PLIN1 O60240 VAR_055048 p.Ser348Leu Polymorphism rs8179071 - PLIN1 O60240 VAR_061505 p.Ala271Val Polymorphism rs58361219 - PLIN2 Q99541 VAR_061506 p.Ser251Pro Polymorphism rs35568725 - PLIN3 O60664 VAR_022780 p.Ile56Val Polymorphism rs8289 - PLIN3 O60664 VAR_024559 p.Val275Ala Polymorphism rs9973235 - PLIN4 Q96Q06 VAR_034637 p.Ala1124Thr Polymorphism rs7251858 - PLIN4 Q96Q06 VAR_050483 p.Ser659Gly Polymorphism rs7260518 - PLIN4 Q96Q06 VAR_050484 p.Arg1134Cys Polymorphism rs7250947 - PLIN4 Q96Q06 VAR_061507 p.Val124Ala Polymorphism rs4807597 - PLIN4 Q96Q06 VAR_061508 p.Thr421Ala Polymorphism rs55901236 - PLIN4 Q96Q06 VAR_061509 p.Lys761Asn Polymorphism rs7256387 - PLIN4 Q96Q06 VAR_061510 p.Met802Thr Polymorphism rs7256712 - PLIN4 Q96Q06 VAR_061511 p.Ala826Glu Polymorphism rs7255187 - PLIN4 Q96Q06 VAR_061512 p.Ala826Gly Polymorphism rs7255187 - PLIN4 Q96Q06 VAR_061513 p.Ala826Val Polymorphism rs7255187 - PLIN4 Q96Q06 VAR_061514 p.Lys860Asn Polymorphism rs7259721 - PLIN5 Q00G26 VAR_043850 p.Ala6Val Polymorphism rs10407239 - PLIN5 Q00G26 VAR_043851 p.Cys255Arg Polymorphism rs1610090 - PLIN5 Q00G26 VAR_043852 p.Arg306Trp Polymorphism rs1062223 - PLK1 P53350 VAR_041018 p.Arg12Leu Unclassified - A lung squamous cell carcinoma sample PLK1 P53350 VAR_041019 p.Leu261Phe Polymorphism rs35056440 - PLK1 P53350 VAR_041020 p.Leu332Val Polymorphism rs45489499 - PLK1 P53350 VAR_041021 p.Leu463His Polymorphism rs45569335 - PLK1 P53350 VAR_041022 p.Arg518His Polymorphism rs56027600 - PLK1 P53350 VAR_051659 p.Asn297Asp Polymorphism rs16972799 - PLK1 P53350 VAR_051660 p.Ser595Leu Polymorphism rs34001032 - PLK1 P53350 VAR_051661 p.Arg599His Polymorphism rs34954545 - PLK1S1 Q2M2Z5 VAR_034909 p.His139Gln Polymorphism rs4815025 - PLK1S1 Q2M2Z5 VAR_034910 p.Met236Thr Polymorphism rs2236178 - PLK2 Q9NYY3 VAR_041023 p.Ser14Thr Unclassified - An ovarian Endometrioid carcinoma sample PLK2 Q9NYY3 VAR_041024 p.Gly92Ser Unclassified - A lung adenocarcinoma sample PLK2 Q9NYY3 VAR_041025 p.Glu436Lys Polymorphism rs55768901 - PLK2 Q9NYY3 VAR_041026 p.Pro487Leu Polymorphism rs55645589 - PLK3 Q9H4B4 VAR_021091 p.Thr61Ser Polymorphism rs17884581 - PLK3 Q9H4B4 VAR_021092 p.Leu68Phe Polymorphism rs17884316 - PLK3 Q9H4B4 VAR_021093 p.Leu283Phe Polymorphism rs17880471 - PLK3 Q9H4B4 VAR_021094 p.Arg483Cys Polymorphism rs17884653 - PLK3 Q9H4B4 VAR_021095 p.Ser498Leu Polymorphism rs17880829 - PLK3 Q9H4B4 VAR_021096 p.Ser618Pro Polymorphism rs17881786 - PLK3 Q9H4B4 VAR_062384 p.Asp491Asn Polymorphism rs17855444 - PLK4 O00444 VAR_019632 p.Ser232Thr Polymorphism rs3811740 - PLK4 O00444 VAR_041027 p.Tyr86Cys Polymorphism rs34156294 - PLK4 O00444 VAR_041028 p.Arg146His Polymorphism rs35232579 - PLK4 O00444 VAR_041029 p.Ala226Thr Polymorphism rs35448573 - PLK4 O00444 VAR_041030 p.Pro317Leu Polymorphism rs35049837 - PLK4 O00444 VAR_041031 p.Asn449Asp Polymorphism rs34906574 - PLK4 O00444 VAR_041032 p.Trp519Ser Polymorphism rs56043017 - PLK4 O00444 VAR_041033 p.Glu830Asp Polymorphism rs17012739 - PLN P26678 VAR_025989 p.Arg9Cys Disease - Cardiomyopathy dilated type 1P (CMD1P) [MIM:609909] PLOD1 Q02809 VAR_006355 p.Trp612Cys Disease - Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] PLOD1 Q02809 VAR_006356 p.Gly678Arg Disease - Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] PLOD1 Q02809 VAR_014220 p.Ala99Thr Polymorphism rs7551175 - PLOD1 Q02809 VAR_023466 p.Trp446Gly Disease - Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] PLOD1 Q02809 VAR_023467 p.Ala667Thr Disease - Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] PLOD1 Q02809 VAR_023468 p.His706Arg Disease - Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] PLOD1 Q02809 VAR_032754 p.Glu67Asp Polymorphism rs7551068 - PLOD1 Q02809 VAR_032755 p.Ala84Thr Polymorphism rs34878020 - PLOD1 Q02809 VAR_032756 p.Ala120Ser Polymorphism rs2273285 - PLOD1 Q02809 VAR_035479 p.Gln123His Unclassified - A breast cancer sample PLOD2 O00469 VAR_022164 p.Arg598His Disease - Bruck syndrome type 2 (BRKS2) [MIM:609220] PLOD2 O00469 VAR_022165 p.Gly601Val Disease - Bruck syndrome type 2 (BRKS2) [MIM:609220] PLOD2 O00469 VAR_022166 p.Thr608Ile Disease - Bruck syndrome type 2 (BRKS2) [MIM:609220] PLOD3 O60568 VAR_012075 p.Arg286Trp Polymorphism rs1134907 - PLOD3 O60568 VAR_051708 p.Ala151Val Polymorphism rs35627324 - PLOD3 O60568 VAR_054913 p.Asn223Ser Disease - Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394] PLP1 P60201 VAR_004546 p.Pro15Leu Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004547 p.Thr43Ile Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004548 p.Gly74Arg Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004551 p.His140Tyr Disease - Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] PLP1 P60201 VAR_004552 p.Thr156Ile Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004553 p.Trp163Arg Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004554 p.Val166Glu Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004555 p.Thr182Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004556 p.Ile187Thr Disease - Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] PLP1 P60201 VAR_004557 p.Asp203His Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004558 p.Pro216Ser Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004559 p.Gly217Ser Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004560 p.Val219Phe Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004561 p.Gly221Cys Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004562 p.Leu224Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_004563 p.Phe237Ser Disease - Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] PLP1 P60201 VAR_004565 p.Ala249Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_007956 p.Asp203Val Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015014 p.Leu31Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015015 p.Phe32Leu Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015016 p.Phe32Val Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015017 p.Cys35Tyr Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015018 p.Ala39Thr Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015019 p.Leu46Pro Unclassified - - PLP1 P60201 VAR_015020 p.Leu46Arg Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015021 p.Phe51Ser Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015022 p.Tyr60Cys Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015023 p.Thr116Lys Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015024 p.His130Tyr Disease - Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] PLP1 P60201 VAR_015025 p.His148Tyr Unclassified - - PLP1 P60201 VAR_015026 p.Lys151Asn Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015027 p.Val166Gly Unclassified - - PLP1 P60201 VAR_015028 p.Cys169Arg Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015029 p.Ser170Phe Disease - Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] PLP1 P60201 VAR_015030 p.Val172Ala Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015031 p.Tyr175Cys Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015032 p.Trp181Cys Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015033 p.Thr183Asn Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015034 p.Asp203Glu Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015035 p.Asp203Gly Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015036 p.Asp203Asn Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015037 p.Arg205Gly Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015038 p.Tyr207Cys Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015039 p.Val209Asp Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015040 p.Leu210His Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015041 p.Pro211Leu Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015042 p.Trp212Arg Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015043 p.Pro216Ala Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015044 p.Cys220Tyr Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015045 p.Leu224Ile Unclassified - - PLP1 P60201 VAR_015046 p.Ser226Pro Disease - Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] PLP1 P60201 VAR_015047 p.Cys228Tyr Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015048 p.Gln234Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015049 p.Ala242Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015050 p.Gly246Glu Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015051 p.Ala248Glu Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_015052 p.Ser253Phe Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046906 p.Cys33Tyr Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046907 p.Cys35Arg Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046908 p.Tyr50Cys Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046909 p.Ala76Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046910 p.Arg137Trp Disease - Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] PLP1 P60201 VAR_046911 p.Val162Glu Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046912 p.Ser170Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046913 p.Pro173Ser Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046914 p.Pro216Leu Disease - Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] PLP1 P60201 VAR_046915 p.Leu225Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046916 p.Leu239Pro Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046917 p.Ala243Glu Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046918 p.Ala243Val Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046919 p.Gly246Ala Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP1 P60201 VAR_046920 p.Ala247Thr Disease - Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] PLP2 Q04941 VAR_011924 p.Ala91Ser Polymorphism rs1802969 - PLS1 Q14651 VAR_048660 p.Ile146Met Polymorphism rs35710125 - PLS1 Q14651 VAR_048661 p.Ser216Leu Polymorphism rs35435507 - PLS3 P13797 VAR_035462 p.Asp488Ala Unclassified - A breast cancer sample PLSCR1 O15162 VAR_034388 p.His262Tyr Polymorphism rs343320 - PLSCR3 Q9NRY6 VAR_015568 p.Val293Ile Polymorphism rs3744549 - PLSCR4 Q9NRQ2 VAR_011315 p.Asn34Ser Polymorphism rs3762685 - PLSCR4 Q9NRQ2 VAR_011316 p.Ile155Val Polymorphism rs1061409 - PLSCR5 A0PG75 VAR_057700 p.Arg110Ser Polymorphism rs12107687 - PLTP P55058 VAR_012073 p.Phe444Leu Polymorphism rs1804161 - PLTP P55058 VAR_012074 p.Thr487Lys Polymorphism rs1056929 - PLTP P55058 VAR_017020 p.Arg282Gln Polymorphism - - PLTP P55058 VAR_017021 p.Arg372His Polymorphism - - PLTP P55058 VAR_017022 p.Arg380Trp Polymorphism rs6065903 - PLTP P55058 VAR_018879 p.Ser124Tyr Polymorphism rs11569636 - PLTP P55058 VAR_018880 p.Met425Ile Polymorphism rs11569675 - PLXDC1 Q8IUK5 VAR_064050 p.Arg462His Polymorphism rs75117355 - PLXDC2 Q6UX71 VAR_026292 p.Val396Ile Polymorphism rs3817405 - PLXDC2 Q6UX71 VAR_026293 p.Ile458Val Polymorphism rs2778979 - PLXNA2 O75051 VAR_056722 p.Arg5Gln Polymorphism rs2782948 - PLXNA2 O75051 VAR_058201 p.Glu369Gly Polymorphism rs4844658 - PLXNA2 O75051 VAR_059554 p.Gln57Arg Polymorphism rs11119014 - PLXNA2 O75051 VAR_059555 p.Ala267Thr Polymorphism rs3748735 - PLXNA2 O75051 VAR_059556 p.Ala805Gly Polymorphism rs17011882 - PLXNA2 O75051 VAR_059557 p.Ala1443Thr Polymorphism rs12240051 - PLXNA3 P51805 VAR_050595 p.Gly384Ser Polymorphism rs34585333 - PLXNA3 P51805 VAR_050596 p.Gly413Ser Polymorphism rs36115591 - PLXNA3 P51805 VAR_050597 p.Asp863Glu Polymorphism rs5945430 - PLXNB1 O43157 VAR_036074 p.Asp1891Val Unclassified - A breast cancer sample PLXNB1 O43157 VAR_050598 p.Arg389Trp Polymorphism rs34050056 - PLXNB1 O43157 VAR_050599 p.Ser753Leu Polymorphism rs35592743 - PLXNB2 O15031 VAR_050600 p.Lys318Glu Polymorphism rs28379706 - PLXNB2 O15031 VAR_061537 p.Ile823Val Polymorphism rs11547731 - PLXNB3 Q9ULL4 VAR_019681 p.Val598Ile Polymorphism rs2266879 - PLXNB3 Q9ULL4 VAR_019682 p.Met1535Thr Polymorphism rs5987155 - PLXNB3 Q9ULL4 VAR_050601 p.Ala126Thr Polymorphism rs34360382 - PLXNB3 Q9ULL4 VAR_061538 p.Glu1156Asp Polymorphism rs6643791 - PLXNC1 O60486 VAR_050602 p.Glu1499Lys Polymorphism rs11107500 - PLXND1 Q9Y4D7 VAR_022144 p.Met870Val Polymorphism rs2255703 - PLXND1 Q9Y4D7 VAR_056723 p.Pro617Ser Polymorphism rs2285372 - PLXND1 Q9Y4D7 VAR_056724 p.Leu1412Val Polymorphism rs2625973 - PLXND1 Q9Y4D7 VAR_059558 p.His894Arg Polymorphism rs2625962 - PLXND1 Q9Y4D7 VAR_061539 p.Ser1542Asn Polymorphism rs2713625 - PM20D1 Q6GTS8 VAR_039380 p.His33Tyr Polymorphism rs11540014 - PM20D1 Q6GTS8 VAR_039381 p.Ile149Val Polymorphism rs1891460 - PM20D1 Q6GTS8 VAR_039382 p.Arg153Trp Polymorphism rs1104899 - PM20D1 Q6GTS8 VAR_039383 p.Ile237Thr Polymorphism rs7518979 - PM20D1 Q6GTS8 VAR_039384 p.Ser258Cys Polymorphism rs11581214 - PM20D1 Q6GTS8 VAR_039385 p.Gly346Arg Polymorphism rs11240573 - PM20D1 Q6GTS8 VAR_039386 p.Ile380Thr Polymorphism rs1361754 - PM20D2 Q8IYS1 VAR_032081 p.Lys333Glu Polymorphism rs10944433 - PMEL P40967 VAR_050606 p.Pro320His Polymorphism rs2071024 - PMEL P40967 VAR_050607 p.Glu370Asp Polymorphism rs17118154 - PMEPA1 Q969W9 VAR_062154 p.Glu128Asp Polymorphism rs41314918 - PMF1 Q6P1K2 VAR_034147 p.Gln75Arg Polymorphism rs1052053 - PMF1 Q6P1K2 VAR_034148 p.Met137Ile Polymorphism rs1052067 - PMFBP1 Q8TBY8 VAR_035042 p.Ala172Thr Polymorphism rs217180 - PMFBP1 Q8TBY8 VAR_035043 p.Glu193Lys Polymorphism rs35370634 - PMFBP1 Q8TBY8 VAR_035044 p.Arg381Leu Polymorphism rs35781168 - PMFBP1 Q8TBY8 VAR_035045 p.Lys650Thr Polymorphism rs34832584 - PMFBP1 Q8TBY8 VAR_056974 p.Thr655Lys Polymorphism rs34832584 - PML P29590 VAR_052090 p.Phe645Leu Polymorphism rs5742915 - PMM2 O15305 VAR_006093 p.Val44Ala Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006094 p.Asp65Tyr Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006095 p.Asn101Lys Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006096 p.Tyr106Cys Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006097 p.Ala108Val Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006098 p.Pro113Leu Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006099 p.Gly117Arg Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006100 p.Phe119Leu Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006101 p.Arg123Gln Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006102 p.Val129Met Disease rs28938475 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006103 p.Pro131Ala Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006104 p.Ile132Thr Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006105 p.Arg141His Disease rs28936415 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006106 p.Arg162Trp Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006107 p.Gly175Arg Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006108 p.Asp188Gly Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006109 p.Gly208Ala Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006110 p.Asn216Ile Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006111 p.Asp223Glu Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006112 p.Tyr229Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006113 p.Val231Met Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006114 p.Ala233Thr Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006115 p.Thr237Met Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_006116 p.Arg238Pro Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_009232 p.Glu139Lys Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_012344 p.Leu104Val Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022133 p.Gln37Leu Polymorphism rs2304472 - PMM2 O15305 VAR_022134 p.Met212Val Polymorphism rs3743808 - PMM2 O15305 VAR_022469 p.Cys9Tyr Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022470 p.Phe11Cys Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022471 p.Gly15Glu Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022472 p.Pro20Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022473 p.Leu32Arg Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022474 p.Gln37His Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022475 p.Gly42Arg Polymorphism - - PMM2 O15305 VAR_022476 p.Tyr64Cys Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022477 p.Val67Met Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022478 p.Pro69Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022479 p.Tyr76Cys Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022480 p.Glu93Ala Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022481 p.Cys103Phe Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022482 p.Ile120Thr Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022483 p.Ile132Phe Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022484 p.Ile132Asn Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022485 p.Arg141Cys Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022486 p.Phe144Leu Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022487 p.Asp148Asn Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022488 p.Glu151Gly Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022489 p.Ile153Thr Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022490 p.Phe157Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022491 p.Phe172Val Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022492 p.Gly176Val Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022493 p.Gln177His Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022494 p.Phe183Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022495 p.Asp185Gly Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022496 p.Cys192Gly Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022497 p.His195Arg Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022498 p.Glu197Ala Disease rs34258285 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022499 p.Phe206Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022500 p.Gly214Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022501 p.Asn216Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022502 p.Asp217Glu Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022503 p.His218Leu Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022504 p.Asp223Asn Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022505 p.Thr226Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022506 p.Gly228Cys Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022507 p.Gly228Arg Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022508 p.Thr237Arg Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022509 p.Arg238Gly Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022510 p.Cys241Ser Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMM2 O15305 VAR_022563 p.Val44Leu Disease - Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] PMP22 Q01453 VAR_006359 p.His12Gln Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006360 p.Leu16Pro Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006360 p.Leu16Pro Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006361 p.Leu19Pro Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006362 p.Met69Lys Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006363 p.Ser72Leu Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006363 p.Ser72Leu Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006364 p.Ser72Pro Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006365 p.Ser72Trp Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006366 p.Ser76Ile Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006367 p.Ser79Cys Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006368 p.Ser79Pro Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006369 p.Leu80Pro Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006371 p.Gly100Glu Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006372 p.Gly100Arg Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006373 p.Leu105Arg Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006373 p.Leu105Arg Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006374 p.Gly107Val Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006375 p.Thr118Met Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006376 p.Ile137Val Polymorphism - - PMP22 Q01453 VAR_006377 p.Leu147Arg Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_006378 p.Gly150Cys Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_006379 p.Gly150Asp Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_009659 p.Val30Met Disease - Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] PMP22 Q01453 VAR_009660 p.Asp37Val Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_009661 p.Ala67Pro Disease - Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300] PMP22 Q01453 VAR_009662 p.Gly93Arg Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_009663 p.Arg157Gly Polymorphism rs28936682 - PMP22 Q01453 VAR_009664 p.Arg157Trp Disease rs28936682 Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_029960 p.Ser22Phe Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_029960 p.Ser22Phe Disease - Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] PMP22 Q01453 VAR_029961 p.Thr23Arg Disease - Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300] PMP22 Q01453 VAR_029963 p.Trp28Arg Disease - Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300] PMP22 Q01453 VAR_029964 p.Val65Phe Disease - Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] PMP22 Q01453 VAR_029965 p.Ala67Thr Disease - Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] PMP22 Q01453 VAR_029966 p.Leu71Pro Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_029967 p.Leu80Arg Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_029968 p.Cys109Arg Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMP22 Q01453 VAR_029970 p.Ser149Arg Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900] PMPCB O75439 VAR_051572 p.Glu396Asp Polymorphism rs3087615 - PMS1 P54277 VAR_012967 p.Met394Thr Polymorphism rs1145231 - PMS1 P54277 VAR_012968 p.Gly501Arg Polymorphism rs1145232 - PMS1 P54277 VAR_014877 p.Arg202Lys Polymorphism rs2066459 - PMS1 P54277 VAR_014878 p.Asn632Ser Polymorphism rs2066456 - PMS1 P54277 VAR_014879 p.Glu720Asp Polymorphism rs2066455 - PMS1 P54277 VAR_014880 p.Tyr793His Polymorphism rs1145234 - PMS1 P54277 VAR_019166 p.Glu27Gln Polymorphism rs5742973 - PMS2 P54278 VAR_004469 p.Arg20Gln Polymorphism rs10254120 - PMS2 P54278 VAR_012969 p.His479Gln Polymorphism - - PMS2 P54278 VAR_012970 p.Thr485Lys Polymorphism rs1805323 - PMS2 P54278 VAR_012971 p.Thr511Ala Polymorphism rs2228007 - PMS2 P54278 VAR_012972 p.Thr597Ser Polymorphism rs1805318 - PMS2 P54278 VAR_012973 p.Met622Ile Polymorphism rs1805324 - PMS2 P54278 VAR_012974 p.Glu705Lys Disease - Mismatch repair cancer syndrome (MMRCS) [MIM:276300] PMS2 P54278 VAR_016133 p.Thr277Lys Polymorphism rs1805322 - PMS2 P54278 VAR_016134 p.Pro470Ser Polymorphism rs1805321 - PMS2 P54278 VAR_016135 p.Asn775Ser Polymorphism rs17420802 - PMS2 P54278 VAR_024541 p.Lys541Glu Polymorphism rs2228006 - PMVK Q15126 VAR_051283 p.Val125Met Polymorphism rs16836525 - PNCK Q6P2M8 VAR_040598 p.Gln262His Polymorphism - - PNKD Q8N490 VAR_034844 p.Ala7Val Disease - Dystonia type 8 (DYT8) [MIM:118800] PNKD Q8N490 VAR_034845 p.Ala9Val Disease - Dystonia type 8 (DYT8) [MIM:118800] PNKP Q96T60 VAR_019260 p.Pro20Ser Polymorphism rs3739168 - PNKP Q96T60 VAR_019261 p.Ala63Val Polymorphism rs3739173 - PNKP Q96T60 VAR_019262 p.Arg180Ser Polymorphism rs3739185 - PNKP Q96T60 VAR_019263 p.Tyr196Asn Polymorphism rs3739186 - PNKP Q96T60 VAR_019264 p.Val478Gly Polymorphism rs3739206 - PNKP Q96T60 VAR_063835 p.Leu176Phe Disease - Epileptic encephalopathy, early infantile, type 10 (EIEE10) [MIM:613402] PNKP Q96T60 VAR_063836 p.Glu326Lys Disease - Epileptic encephalopathy, early infantile, type 10 (EIEE10) [MIM:613402] PNLIPRP1 P54315 VAR_014915 p.Leu461Pro Polymorphism rs1049125 - PNLIPRP1 P54315 VAR_022082 p.Ala271Val Polymorphism rs2305205 - PNLIPRP1 P54315 VAR_022659 p.Glu414Asp Polymorphism rs2305204 - PNLIPRP1 P54315 VAR_036379 p.Ser129Cys Unclassified - A breast cancer sample PNLIPRP1 P54315 VAR_049820 p.Asn61Asp Polymorphism rs11197744 - PNLIPRP3 Q17RR3 VAR_032141 p.Leu2Phe Polymorphism rs10885929 - PNLIPRP3 Q17RR3 VAR_032142 p.Phe332Leu Polymorphism rs7077408 - PNLIPRP3 Q17RR3 VAR_032143 p.Phe450Tyr Polymorphism rs2116286 - PNLIPRP3 Q17RR3 VAR_060285 p.Val381Ile Polymorphism rs10736251 - PNLIPRP3 Q17RR3 VAR_060286 p.Arg382Gly Polymorphism rs1897519 - PNMA1 Q8ND90 VAR_053595 p.Met54Val Polymorphism rs35129712 - PNMA1 Q8ND90 VAR_053596 p.Arg215Pro Polymorphism rs34413931 - PNMA2 Q9UL42 VAR_053597 p.Glu186Lys Polymorphism rs2233701 - PNMA3 Q9UL41 VAR_057701 p.Gly382Ser Polymorphism rs36042591 - PNMA3 Q9UL41 VAR_057702 p.Arg386Gln Polymorphism rs35603712 - PNMA5 Q96PV4 VAR_037164 p.Asn107His Polymorphism rs3810655 - PNMA5 Q96PV4 VAR_037165 p.Arg349Trp Polymorphism rs3810654 - PNMAL1 Q86V59 VAR_039935 p.Ser80Thr Polymorphism rs12610254 - PNMAL1 Q86V59 VAR_039936 p.Cys97Tyr Polymorphism rs7248888 - PNMT P11086 VAR_024547 p.Trp276Arg Polymorphism rs5643 - PNMT P11086 VAR_029351 p.Asn9Ser Polymorphism rs11569781 - PNMT P11086 VAR_036829 p.Thr98Ala Polymorphism rs36060376 - PNMT P11086 VAR_036830 p.Arg112Cys Polymorphism rs34530498 - PNMT P11086 VAR_036831 p.Ala175Thr Polymorphism rs34341496 - PNMT P11086 VAR_037611 p.Ser188Cys Polymorphism rs5639 - PNMT P11086 VAR_037612 p.Leu211His Polymorphism rs5640 - PNMT P11086 VAR_037613 p.Leu217Gln Polymorphism rs5641 - PNMT P11086 VAR_037614 p.Arg254His Polymorphism rs5642 - PNN Q9H307 VAR_023368 p.Ser671Gly Polymorphism rs13021 - PNN Q9H307 VAR_050540 p.Ser441Thr Polymorphism rs2180792 - PNO1 Q9NRX1 VAR_029814 p.Arg11Gly Polymorphism rs2044693 - PNO1 Q9NRX1 VAR_029815 p.Gly71Ala Polymorphism rs7590838 - PNPLA1 Q8N8W4 VAR_032929 p.Pro423His Polymorphism rs12199580 - PNPLA1 Q8N8W4 VAR_032930 p.Thr490Met Polymorphism rs12197079 - PNPLA1 Q8N8W4 VAR_032931 p.Ser522Pro Polymorphism rs4713956 - PNPLA2 Q96AD5 VAR_032995 p.Pro195Leu Disease - Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717] PNPLA2 Q96AD5 VAR_032996 p.Leu219Phe Polymorphism - - PNPLA2 Q96AD5 VAR_032997 p.Asn252Lys Polymorphism - - PNPLA2 Q96AD5 VAR_032998 p.Leu481Pro Polymorphism rs1138693 - PNPLA3 Q9NST1 VAR_015845 p.Cys99Gly Polymorphism rs2076213 - PNPLA3 Q9NST1 VAR_015846 p.Gly115Cys Polymorphism rs2076212 - PNPLA3 Q9NST1 VAR_015847 p.Lys434Glu Polymorphism rs2294918 - PNPLA3 Q9NST1 VAR_019961 p.Ile148Met Polymorphism rs738409 - PNPLA3 Q9NST1 VAR_053814 p.Thr216Pro Polymorphism rs35726887 - PNPLA3 Q9NST1 VAR_053815 p.Ser453Ile Polymorphism rs6006460 - PNPLA4 P41247 VAR_028068 p.Val48Gly Polymorphism rs17856615 - PNPLA4 P41247 VAR_028069 p.Asp134Gly Polymorphism rs17851825 - PNPLA4 P41247 VAR_028070 p.Arg187Gln Polymorphism rs2231793 - PNPLA4 P41247 VAR_053816 p.Val113Ile Polymorphism rs2231791 - PNPLA5 Q7Z6Z6 VAR_032932 p.Leu140Phe Polymorphism rs2071883 - PNPLA5 Q7Z6Z6 VAR_032933 p.Thr200Ile Polymorphism rs10428037 - PNPLA5 Q7Z6Z6 VAR_032934 p.Trp286Arg Polymorphism rs739231 - PNPLA6 Q8IY17 VAR_032949 p.Ala403Pro Polymorphism rs17854645 - PNPLA6 Q8IY17 VAR_032950 p.Lys1024Arg Polymorphism rs17854647 - PNPLA6 Q8IY17 VAR_044409 p.Arg929His Disease - Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020] PNPLA6 Q8IY17 VAR_044410 p.Met1051Val Disease - Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020] PNPLA7 Q6ZV29 VAR_033060 p.Arg323Gln Polymorphism rs11137410 - PNPLA7 Q6ZV29 VAR_033061 p.Gln364Glu Polymorphism rs3750378 - PNPLA7 Q6ZV29 VAR_033062 p.Glu368Asp Polymorphism rs3750379 - PNPLA7 Q6ZV29 VAR_033063 p.Val803Ala Polymorphism rs1891630 - PNPLA7 Q6ZV29 VAR_033064 p.Val824Met Polymorphism rs34938599 - PNPLA7 Q6ZV29 VAR_033065 p.Pro908Leu Polymorphism rs3812499 - PNPLA7 Q6ZV29 VAR_033066 p.Leu993Met Polymorphism rs35177111 - PNPLA7 Q6ZV29 VAR_055696 p.Gly286Ser Polymorphism rs2298171 - PNPLA7 Q6ZV29 VAR_055697 p.Asp1050Asn Polymorphism rs4962237 - PNPLA7 Q6ZV29 VAR_060409 p.Gly387Ser Polymorphism rs11791683 - PNPLA7 Q6ZV29 VAR_061139 p.Arg236His Polymorphism rs12788 - PNPO Q9NVS9 VAR_029358 p.Glu50Lys Polymorphism - - PNPO Q9NVS9 VAR_029359 p.Arg116Gln Polymorphism rs17679445 - PNPO Q9NVS9 VAR_029360 p.Arg229Trp Disease - Pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090] PNP P00491 VAR_002243 p.Gly51Ser Polymorphism rs1049564 - PNP P00491 VAR_002244 p.Glu89Lys Disease - Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNP P00491 VAR_002245 p.Asp128Gly Disease - Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNP P00491 VAR_002246 p.Ala174Pro Disease - Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNP P00491 VAR_002247 p.Arg234Pro Disease - Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNP P00491 VAR_010653 p.Tyr192Cys Disease - Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] PNPT1 Q8TCS8 VAR_027787 p.Ile121Val Polymorphism rs782572 - PNPT1 Q8TCS8 VAR_027788 p.Asn590Asp Polymorphism rs7594497 - PNPT1 Q8TCS8 VAR_050610 p.Glu230Gln Polymorphism rs34928857 - PNRC1 Q12796 VAR_051284 p.Pro252Leu Polymorphism rs2231277 - POC1A Q8NBT0 VAR_057627 p.Gly79Ser Polymorphism rs35249554 - POC1A Q8NBT0 VAR_057628 p.Gln348His Polymorphism rs35898691 - POC5 Q8NA72 VAR_031324 p.His36Arg Polymorphism rs2307111 - POC5 Q8NA72 VAR_031325 p.Ile85Thr Polymorphism rs17672542 - POC5 Q8NA72 VAR_050778 p.Ala446Thr Polymorphism rs34678567 - PODNL1 Q6PEZ8 VAR_037151 p.Arg44Trp Polymorphism rs3745467 - PODN Q7Z5L7 VAR_029497 p.Thr444Met Polymorphism rs12567021 - PODN Q7Z5L7 VAR_029498 p.Val472Ala Polymorphism rs1288389 - PODXL2 Q9NZ53 VAR_053599 p.Val456Ala Polymorphism rs34117815 - PODXL O00592 VAR_012236 p.Thr60Arg Polymorphism - - PODXL O00592 VAR_012237 p.Ser194Leu Polymorphism rs12670788 - PODXL O00592 VAR_055237 p.Gly112Ser Polymorphism rs3735035 - PODXL O00592 VAR_055238 p.Val358Ile Polymorphism rs3212298 - PODXL O00592 VAR_060090 p.Pro298Ala Polymorphism rs35893129 - PODXL O00592 VAR_062136 p.Thr126Pro Polymorphism rs55698400 - POF1B Q8WVV4 VAR_028753 p.Pro207Ser Polymorphism rs363766 - POF1B Q8WVV4 VAR_028754 p.Cys239Ser Polymorphism - - POF1B Q8WVV4 VAR_028755 p.Glu296Ala Polymorphism rs363751 - POF1B Q8WVV4 VAR_028756 p.Met323Val Polymorphism rs363775 - POF1B Q8WVV4 VAR_028757 p.Arg329Gln Disease - Premature ovarian failure type 2B (POF2B) [MIM:300604] POF1B Q8WVV4 VAR_028758 p.Met349Leu Polymorphism rs363774 - POF1B Q8WVV4 VAR_028759 p.Gln434Lys Polymorphism - - POF1B Q8WVV4 VAR_028760 p.Cys444Tyr Polymorphism - - POFUT1 Q9H488 VAR_049231 p.Leu322Phe Polymorphism rs17268666 - POFUT1 Q9H488 VAR_049232 p.Asp348Asn Polymorphism rs35259534 - POGLUT1 Q8NBL1 VAR_027041 p.Lys75Arg Polymorphism rs11556605 - POGLUT1 Q8NBL1 VAR_027042 p.Pro229Thr Polymorphism rs17852785 - POGZ Q7Z3K3 VAR_031476 p.Glu1365Asp Polymorphism rs35198305 - POLA1 P09884 VAR_048877 p.Tyr740His Polymorphism rs2230927 - POLA2 Q14181 VAR_033896 p.Gly583Arg Polymorphism rs487989 - POLA2 Q14181 VAR_033897 p.Ser588Asn Polymorphism rs7123885 - POLB P06746 VAR_018881 p.Pro242Arg Polymorphism rs3136797 - POLD1 P28340 VAR_016146 p.Arg30Trp Polymorphism rs3218772 - POLD1 P28340 VAR_019340 p.Arg19His Polymorphism rs3218773 - POLD1 P28340 VAR_019341 p.Arg119His Polymorphism rs1726801 - POLD1 P28340 VAR_019342 p.Ser173Asn Polymorphism rs1726803 - POLD1 P28340 VAR_019343 p.Arg177His Polymorphism rs3218750 - POLD1 P28340 VAR_019344 p.Arg849His Polymorphism rs3218775 - POLD1 P28340 VAR_019345 p.Arg1086Gln Polymorphism rs3219457 - POLD1 P28340 VAR_048878 p.Arg5Trp Polymorphism rs9282830 - POLD1 P28340 VAR_048879 p.Gly21Cys Polymorphism rs9282831 - POLD1 P28340 VAR_048880 p.Pro347Leu Polymorphism rs2230243 - POLD2 P49005 VAR_014885 p.Asn303Ser Polymorphism rs3087366 - POLD3 Q15054 VAR_064745 p.Gly194Val Unclassified - - POLD3 Q15054 VAR_064746 p.Met195Leu Unclassified - - POLD4 Q9HCU8 VAR_022269 p.Arg39Pro Polymorphism rs28364240 - POLD4 Q9HCU8 VAR_057526 p.Gly59Arg Polymorphism rs34136263 - POLE2 P56282 VAR_044379 p.His84Pro Polymorphism rs34857719 - POLE2 P56282 VAR_044380 p.Leu456Val Polymorphism rs34574266 - POLE2 P56282 VAR_044381 p.Pro514Leu Polymorphism rs45515094 - POLE3 Q9NRF9 VAR_023464 p.Thr83Ala Polymorphism - - POLE3 Q9NRF9 VAR_023465 p.Glu135Asp Polymorphism rs35933626 - POLE3 Q9NRF9 VAR_057527 p.Asp126Ala Polymorphism rs34852828 - POLE4 Q9NR33 VAR_028050 p.Gly17Val Polymorphism rs12366 - POLE Q07864 VAR_020276 p.Ala252Val Polymorphism rs5744751 - POLE Q07864 VAR_020277 p.Asn336Ser Polymorphism rs5744760 - POLE Q07864 VAR_020278 p.Phe695Ile Polymorphism rs5744799 - POLE Q07864 VAR_020279 p.Tyr1395Cys Polymorphism rs5744933 - POLE Q07864 VAR_020280 p.Asn1396Ser Polymorphism rs5744934 - POLE Q07864 VAR_020281 p.Glu1399Gln Polymorphism rs5744935 - POLE Q07864 VAR_020282 p.Ala2040Val Polymorphism rs5745021 - POLE Q07864 VAR_020283 p.Arg2165His Polymorphism rs5745068 - POLE Q07864 VAR_028429 p.Pro99Leu Polymorphism rs5744739 - POLE Q07864 VAR_028430 p.Arg260Gln Polymorphism rs5744752 - POLE Q07864 VAR_028431 p.Arg1382Cys Polymorphism rs5744904 - POLE Q07864 VAR_028432 p.Glu1577Ala Polymorphism rs5744948 - POLE Q07864 VAR_028433 p.Ala1712Val Polymorphism rs5744950 - POLE Q07864 VAR_028434 p.Lys1857Arg Polymorphism rs5744971 - POLE Q07864 VAR_028435 p.Cys1935Tyr Polymorphism rs5744991 - POLE Q07864 VAR_048881 p.Glu2140Lys Polymorphism rs5745066 - POLE Q07864 VAR_048882 p.Arg2159Cys Polymorphism rs5745067 - POLE Q07864 VAR_061138 p.Ala31Ser Polymorphism rs34047482 - POLG2 Q9UHN1 VAR_029364 p.Gly451Glu Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131] POLG2 Q9UHN1 VAR_032028 p.Ala169Thr Polymorphism rs1427463 - POLG2 Q9UHN1 VAR_032029 p.Gly416Ala Polymorphism rs17850455 - POLG P54098 VAR_012153 p.Arg3Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_012154 p.Leu304Arg Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_012155 p.Ala467Thr Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_012155 p.Ala467Thr Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_012155 p.Ala467Thr Disease - Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_012156 p.Tyr955Cys Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] POLG P54098 VAR_014904 p.Pro18Ser Polymorphism rs3087373 - POLG P54098 VAR_014905 p.Pro324Ser Polymorphism rs2307437 - POLG P54098 VAR_014906 p.Arg546Cys Polymorphism rs2307447 - POLG P54098 VAR_014907 p.Glu662Lys Polymorphism rs2307450 - POLG P54098 VAR_014908 p.Arg1142Trp Polymorphism rs2307442 - POLG P54098 VAR_014909 p.Glu1143Gly Polymorphism rs2307441 - POLG P54098 VAR_014910 p.Arg1146Cys Disease rs2307440 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_014911 p.Gln1236His Polymorphism rs3087374 - POLG P54098 VAR_019267 p.Arg193Gln Polymorphism rs3176162 - POLG P54098 VAR_023663 p.Arg227Trp Disease - Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023663 p.Arg227Trp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023664 p.Thr251Ile Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023664 p.Thr251Ile Disease - Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023664 p.Thr251Ile Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023665 p.Arg309Leu Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023666 p.Trp312Arg Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023667 p.Gly431Val Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023668 p.Asn468Asp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023669 p.Gln497His Disease - Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023670 p.Arg579Trp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023671 p.Pro587Leu Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023671 p.Pro587Leu Disease - Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023671 p.Pro587Leu Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023672 p.Arg627Trp Disease - Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023673 p.Trp748Ser Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023673 p.Trp748Ser Disease - Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023674 p.Tyr831Cys Disease rs4154971 Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023674 p.Tyr831Cys Disease rs4154971 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023675 p.Gly848Ser Disease - Leigh syndrome (LS) [MIM:256000] POLG P54098 VAR_023675 p.Gly848Ser Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_023675 p.Gly848Ser Disease - Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023675 p.Gly848Ser Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023676 p.Asn864Ser Disease - Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] POLG P54098 VAR_023677 p.Ala889Thr Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023678 p.Gly923Asp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023679 p.His932Tyr Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023679 p.His932Tyr Disease - Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023680 p.Arg943His Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023681 p.Arg953Cys Disease rs11546842 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023682 p.Ala957Ser Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] POLG P54098 VAR_023683 p.Arg1047Gln Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023684 p.Gly1051Arg Disease - Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_023685 p.Gly1076Val Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023686 p.Arg1096Cys Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023687 p.Ser1104Cys Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023688 p.Ala1105Thr Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023689 p.Val1106Ile Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_023690 p.Ser1176Leu Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] POLG P54098 VAR_058870 p.Arg232Gly Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058871 p.Arg232His Disease - Leigh syndrome (LS) [MIM:256000] POLG P54098 VAR_058872 p.Leu244Pro Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058873 p.Gly268Ala Disease rs61752784 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058875 p.Gln308His Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058876 p.Gly380Asp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058877 p.Leu463Phe Polymorphism - - POLG P54098 VAR_058878 p.Ser511Asn Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] POLG P54098 VAR_058879 p.Gly517Val Disease rs61752783 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_058880 p.Arg562Gln Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058881 p.Arg574Trp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058882 p.Met603Leu Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058883 p.Arg627Gln Disease - Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_058884 p.Pro648Arg Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058885 p.Gly737Arg Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058886 p.Ala767Asp Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058887 p.Arg807Cys Disease - Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] POLG P54098 VAR_058888 p.Arg807Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058889 p.Arg853Trp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058890 p.Gln879His Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058891 p.Thr885Ser Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058892 p.Thr914Pro Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058893 p.Ala957Pro Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058894 p.Arg1096His Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058895 p.His1110Tyr Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058896 p.His1134Arg Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_058897 p.Asp1184Asn Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] POLG P54098 VAR_058898 p.Lys1191Asn Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_065092 p.Glu1136Lys Disease - Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] POLG P54098 VAR_065119 p.Asp1186His Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] POLH Q9Y253 VAR_021227 p.Arg111His Disease - Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021228 p.Thr122Pro Disease - Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021229 p.Gly209Val Polymorphism rs2307456 - POLH Q9Y253 VAR_021230 p.Gly263Val Disease - Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021231 p.Arg334Trp Polymorphism rs9333548 - POLH Q9Y253 VAR_021232 p.Arg361Ser Disease - Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021233 p.Thr478Met Polymorphism rs9296419 - POLH Q9Y253 VAR_021234 p.Lys535Glu Disease rs56307355 Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021235 p.Leu584Pro Polymorphism rs9333554 - POLH Q9Y253 VAR_021236 p.Lys589Thr Disease - Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH Q9Y253 VAR_021237 p.Met595Val Polymorphism rs9333555 - POLH Q9Y253 VAR_021238 p.Met647Leu Polymorphism rs6941583 - POLH Q9Y253 VAR_036220 p.Gly153Asp Unclassified - A breast cancer sample POLI Q9UNA4 VAR_021239 p.Arg96Gly Polymorphism rs3218778 - POLI Q9UNA4 VAR_021240 p.Ile261Met Polymorphism rs3218784 - POLI Q9UNA4 VAR_021241 p.Glu276Lys Polymorphism rs3218783 - POLI Q9UNA4 VAR_021242 p.His474Arg Polymorphism rs3730823 - POLI Q9UNA4 VAR_021243 p.Phe532Ser Polymorphism rs3218786 - POLI Q9UNA4 VAR_021244 p.Cys560Arg Polymorphism rs3218787 - POLI Q9UNA4 VAR_021245 p.Ala731Thr Polymorphism rs8305 - POLK Q9UBT6 VAR_021246 p.Thr595Ile Polymorphism rs5744713 - POLK Q9UBT6 VAR_021247 p.Ile612Val Polymorphism rs3822587 - POLK Q9UBT6 VAR_021248 p.Ser832Asn Polymorphism rs5744716 - POLK Q9UBT6 VAR_048886 p.Ser423Arg Polymorphism rs35257416 - POLK Q9UBT6 VAR_048887 p.Ser635Asn Polymorphism rs35501530 - POLL Q9UGP5 VAR_020268 p.Thr221Pro Polymorphism rs3730463 - POLL Q9UGP5 VAR_020269 p.Arg438Trp Polymorphism rs3730477 - POLM Q9NP87 VAR_022287 p.Glu107Asp Polymorphism rs28382635 - POLM Q9NP87 VAR_022288 p.Gly220Ala Polymorphism rs28382644 - POLM Q9NP87 VAR_022289 p.Val246Phe Polymorphism rs28382653 - POLM Q9NP87 VAR_022290 p.Leu484Phe Polymorphism rs28382661 - POLN Q7Z5Q5 VAR_025647 p.Gln121His Polymorphism rs2353552 - POLN Q7Z5Q5 VAR_025648 p.Arg201Gly Polymorphism rs35884361 - POLN Q7Z5Q5 VAR_025649 p.Met310Leu Polymorphism rs10018786 - POLN Q7Z5Q5 VAR_025650 p.Pro315Ser Polymorphism rs11725880 - POLN Q7Z5Q5 VAR_025651 p.Gly336Ser Polymorphism rs10011549 - POLN Q7Z5Q5 VAR_025652 p.Arg425Cys Polymorphism rs9328764 - POLN Q7Z5Q5 VAR_025653 p.Ser502Gly Polymorphism rs34574483 - POLN Q7Z5Q5 VAR_025654 p.Phe711Leu Polymorphism rs34554757 - POLQ O75417 VAR_055707 p.Pro1056Leu Polymorphism rs34778629 - POLR1A O95602 VAR_047493 p.Pro150Ala Polymorphism rs4832242 - POLR1A O95602 VAR_047494 p.Gln349Glu Polymorphism rs17026866 - POLR1A O95602 VAR_047495 p.Lys364Glu Polymorphism rs35239368 - POLR1A O95602 VAR_047496 p.Ser396Asn Polymorphism rs35443467 - POLR1A O95602 VAR_047497 p.Ile815Val Polymorphism rs34302587 - POLR1A O95602 VAR_047498 p.Ala1141Thr Polymorphism rs34892520 - POLR1A O95602 VAR_047499 p.Ile1608Met Polymorphism rs35093541 - POLR1B Q9H9Y6 VAR_034476 p.Ser295Leu Polymorphism rs1545133 - POLR1C O15160 VAR_064899 p.Arg279Gln Disease - Treacher Collins syndrome type 3 (TCS3) [MIM:248390] POLR1C O15160 VAR_064900 p.Arg279Trp Disease - Treacher Collins syndrome type 3 (TCS3) [MIM:248390] POLR1D Q9Y2S0 VAR_064892 p.Glu47Lys Disease - Treacher Collins syndrome type 2 (TCS2) [MIM:613717] POLR1D Q9Y2S0 VAR_064893 p.Thr50Ile Disease - Treacher Collins syndrome type 2 (TCS2) [MIM:613717] POLR1D Q9Y2S0 VAR_064894 p.Leu51Arg Disease - Treacher Collins syndrome type 2 (TCS2) [MIM:613717] POLR1D Q9Y2S0 VAR_064895 p.Gly52Glu Disease - Treacher Collins syndrome type 2 (TCS2) [MIM:613717] POLR1D Q9Y2S0 VAR_064896 p.Arg56Cys Disease - Treacher Collins syndrome type 2 (TCS2) [MIM:613717] POLR1D Q9Y2S0 VAR_064897 p.Leu82Ser Disease - Treacher Collins syndrome type 2 (TCS2) [MIM:613717] POLR1D Q9Y2S0 VAR_064898 p.Gly99Ser Disease - Treacher Collins syndrome type 2 (TCS2) [MIM:613717] POLR1E Q9GZS1 VAR_022372 p.Asp254His Polymorphism rs7863488 - POLR1E Q9GZS1 VAR_022373 p.Val418Met Polymorphism rs7867180 - POLR1E Q9GZS1 VAR_022374 p.Arg445Lys Polymorphism rs10814571 - POLR2A P24928 VAR_051872 p.Arg292Cys Polymorphism rs2229198 - POLR2E P19388 VAR_028259 p.Ser44Phe Polymorphism rs12459404 - POLR2F P61218 VAR_036571 p.Tyr60Asn Unclassified - A breast cancer sample POLR2M Q6EEV4 VAR_054029 p.Ala127Pro Polymorphism rs11858659 - POLR3A O14802 VAR_051873 p.Arg582Leu Polymorphism rs34588967 - POLR3A O14802 VAR_051874 p.Lys713Asn Polymorphism rs35354908 - POLR3B Q9NW08 VAR_057255 p.Thr740Ala Polymorphism rs17038460 - POLR3C Q9BUI4 VAR_019083 p.His243Arg Polymorphism rs1044697 - POLR3E Q9NVU0 VAR_024623 p.Ser46Ala Polymorphism rs2347 - POLR3K Q9Y2Y1 VAR_027918 p.Ser24Ala Polymorphism rs183360 - POLRMT O00411 VAR_019427 p.Glu555Ala Polymorphism rs2238549 - POM121C A8CG34 VAR_045906 p.Thr379Ala Polymorphism rs427206 - POM121C A8CG34 VAR_045907 p.Gln1165Leu Polymorphism rs365436 - POM121L12 Q8N7R1 VAR_046180 p.Pro21Thr Polymorphism rs10229800 - POM121L12 Q8N7R1 VAR_046181 p.Gln64Glu Polymorphism rs11238247 - POM121L12 Q8N7R1 VAR_046182 p.Gly188Glu Polymorphism rs1689291 - POM121 Q96HA1 VAR_045905 p.Ala1215Gly Polymorphism rs3177261 - POMC P01189 VAR_010699 p.Ser7Thr Polymorphism - - POMC P01189 VAR_010700 p.Ser9Leu Polymorphism - - POMC P01189 VAR_010701 p.Arg236Gly Polymorphism rs28932472 - POMC P01189 VAR_010715 p.Asp106Asn Polymorphism - - POMC P01189 VAR_010716 p.Glu214Gly Polymorphism - - POMC P01189 VAR_012201 p.Arg236Gln Polymorphism - - POMC P01189 VAR_029314 p.Pro132Ala Polymorphism rs8192606 - POMC P01189 VAR_029762 p.Pro62Leu Polymorphism rs28932471 - POMGNT1 Q8WZA1 VAR_023101 p.Glu223Lys Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023102 p.Arg265His Unclassified - - POMGNT1 Q8WZA1 VAR_023103 p.Cys269Tyr Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023104 p.Arg311Gln Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023104 p.Arg311Gln Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3) [MIM:613151] POMGNT1 Q8WZA1 VAR_023105 p.Trp425Ser Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023106 p.Arg442Cys Disease rs28940869 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023107 p.Cys490Tyr Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023107 p.Cys490Tyr Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3) [MIM:613151] POMGNT1 Q8WZA1 VAR_023108 p.Pro493Arg Disease rs28942068 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023109 p.Ser550Asn Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_023110 p.Met623Val Polymorphism rs6659553 - POMGNT1 Q8WZA1 VAR_030645 p.Glu250Val Polymorphism rs17855359 - POMGNT1 Q8WZA1 VAR_030646 p.Val504Ile Polymorphism rs17102066 - POMGNT1 Q8WZA1 VAR_065021 p.Thr176Pro Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_065022 p.Ser198Arg Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_065023 p.Arg367His Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_065024 p.Asp427His Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] POMGNT1 Q8WZA1 VAR_065025 p.Asp556Asn Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C3 (MDDGC3) [MIM:613157] POMGNT1 Q8WZA1 VAR_065026 p.Arg605Pro Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3) [MIM:613151] POMT1 Q9Y6A1 VAR_015734 p.Gly76Arg Disease rs28941782 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_015735 p.Val428Asp Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_022661 p.Ala200Pro Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C1 (MDDGC1) [MIM:609308] POMT1 Q9Y6A1 VAR_026697 p.Ser537Arg Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_026697 p.Ser537Arg Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] POMT1 Q9Y6A1 VAR_034389 p.Gln251Trp Polymorphism rs3887873 - POMT1 Q9Y6A1 VAR_034390 p.Gln251Arg Polymorphism rs2296949 - POMT1 Q9Y6A1 VAR_034391 p.Val327Ile Polymorphism rs4740164 - POMT1 Q9Y6A1 VAR_034392 p.Asp433Glu Polymorphism rs11243406 - POMT1 Q9Y6A1 VAR_065027 p.Gly65Arg Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] POMT1 Q9Y6A1 VAR_065028 p.Arg105Cys Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_065029 p.Arg105His Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_065031 p.Gly207Val Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] POMT1 Q9Y6A1 VAR_065032 p.Leu285Phe Polymorphism - - POMT1 Q9Y6A1 VAR_065033 p.Arg522Lys Polymorphism - - POMT1 Q9Y6A1 VAR_065034 p.Trp582Cys Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] POMT1 Q9Y6A1 VAR_065035 p.Gln590His Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] POMT1 Q9Y6A1 VAR_065036 p.Ala669Thr Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] POMT2 Q9UKY4 VAR_022083 p.Ala54Glu Polymorphism rs8177536 - POMT2 Q9UKY4 VAR_065037 p.Thr184Met Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C2 (MDDGC2) [MIM:613158] POMT2 Q9UKY4 VAR_065038 p.Ile198Asn Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065039 p.Gly246Asp Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065040 p.Gly353Ser Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065041 p.Val373Phe Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065042 p.Arg413Pro Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065044 p.Gly482Val Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065045 p.Tyr666Cys Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065045 p.Tyr666Cys Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065046 p.Phe717Ser Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065047 p.Gly726Glu Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] POMT2 Q9UKY4 VAR_065047 p.Gly726Glu Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065048 p.Trp748Arg Disease - Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B2 (MDDGB2) [MIM:613156] POMT2 Q9UKY4 VAR_065049 p.Trp748Ser Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C2 (MDDGC2) [MIM:613158] POMZP3 Q6PJE2 VAR_056721 p.Arg176His Polymorphism rs17341271 - PON1 P27169 VAR_006043 p.Leu55Met Polymorphism rs854560 - PON1 P27169 VAR_006044 p.Gln192Arg Polymorphism rs662 - PON1 P27169 VAR_015882 p.Ile102Val Polymorphism - - PON1 P27169 VAR_055342 p.Arg160Gly Polymorphism rs13306698 - PON2 Q15165 VAR_006045 p.Ala148Gly Polymorphism rs12026 - PON2 Q15165 VAR_006046 p.Cys311Ser Polymorphism rs7493 - PON2 Q15165 VAR_020786 p.Val172Leu Polymorphism rs17876152 - PON3 Q15166 VAR_021082 p.Glu146Lys Polymorphism rs17878827 - PON3 Q15166 VAR_021083 p.Ala179Asp Polymorphism rs17883013 - POP1 Q99575 VAR_036232 p.Glu675Gln Unclassified - A breast cancer sample POP1 Q99575 VAR_057746 p.Ser127Leu Polymorphism rs3824145 - POP1 Q99575 VAR_057747 p.Glu460Ala Polymorphism rs2306131 - POP1 Q99575 VAR_057748 p.Lys522Asn Polymorphism rs17184326 - POP1 Q99575 VAR_057749 p.Leu994Val Polymorphism rs17856355 - POPDC2 Q9HBU9 VAR_053601 p.Val29Ile Polymorphism rs4688023 - POPDC3 Q9HBV1 VAR_053602 p.Arg106Gln Polymorphism rs11961225 - PORCN Q9H237 VAR_035089 p.Gly60Arg Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_035090 p.Arg365Gly Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058899 p.Ser136Phe Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058900 p.Gly168Arg Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058901 p.Arg228Cys Unclassified - - PORCN Q9H237 VAR_058902 p.Val258Glu Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058903 p.His341Leu Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058904 p.Arg365Gln Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058905 p.Cys385Arg Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_058906 p.Trp439Arg Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065189 p.His252Tyr Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065190 p.Ser297Leu Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065191 p.Leu331Arg Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065192 p.Glu361Val Disease - Focal dermal hypoplasia (FODH) [MIM:305600] PORCN Q9H237 VAR_065193 p.Cys385Tyr Disease - Focal dermal hypoplasia (FODH) [MIM:305600] POR P16435 VAR_004617 p.Ala500Val Polymorphism rs1057868 - POR P16435 VAR_004618 p.Arg551Gln Polymorphism - - POR P16435 VAR_021154 p.Tyr178Asp Disease - Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_021155 p.Ala284Pro Disease - Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] POR P16435 VAR_021155 p.Ala284Pro Disease - Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_021156 p.Arg454His Disease - Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] POR P16435 VAR_021156 p.Arg454His Disease - Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_021157 p.Val489Glu Disease - Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] POR P16435 VAR_021158 p.Cys566Tyr Disease - Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_021159 p.Tyr575Cys Disease - Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] POR P16435 VAR_021160 p.Val605Phe Disease - Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] POR P16435 VAR_047885 p.Pro225Leu Polymorphism - - POR P16435 VAR_047886 p.Asp252Asn Polymorphism - - POSTN Q15063 VAR_049115 p.Thr339Ile Polymorphism rs9594223 - POSTN Q15063 VAR_049116 p.Val814Met Polymorphism rs9547952 - POT1 Q9NUX5 VAR_034393 p.Val529Met Polymorphism rs34973253 - POTEB Q6S5H4 VAR_019914 p.His30Asp Polymorphism rs4503752 - POTEB Q6S5H4 VAR_019915 p.Met43Val Polymorphism rs2605913 - POTEB Q6S5H4 VAR_019916 p.Cys64Trp Polymorphism rs2458860 - POTEB Q6S5H4 VAR_019917 p.Cys68Arg Polymorphism rs6599743 - POTEB Q6S5H4 VAR_019918 p.Thr77Lys Polymorphism rs4429251 - POTEB Q6S5H4 VAR_019919 p.Asn88Asp Polymorphism rs2458862 - POTEB Q6S5H4 VAR_019920 p.Gln286Glu Polymorphism rs2445603 - POTEB Q6S5H4 VAR_019921 p.Lys511Glu Polymorphism rs1949282 - POTEB Q6S5H4 VAR_019922 p.Met535Lys Polymorphism rs1828869 - POTEB Q6S5H4 VAR_019923 p.Ala568Val Polymorphism rs1828868 - POTEB Q6S5H4 VAR_048277 p.Ala242Thr Polymorphism rs4366679 - POTEB Q6S5H4 VAR_059119 p.Ala568Thr Polymorphism rs1828868 - POTEB Q6S5H4 VAR_061016 p.Arg524His Polymorphism rs12148366 - POTEC B2RU33 VAR_045825 p.Thr3Ala Polymorphism rs28535987 - POTEC B2RU33 VAR_045826 p.Ala10Thr Polymorphism rs45488295 - POTEC B2RU33 VAR_045827 p.Ala13Thr Polymorphism rs45561536 - POTEC B2RU33 VAR_045828 p.Phe28Cys Polymorphism rs45626231 - POTEC B2RU33 VAR_045829 p.His30Pro Polymorphism rs9807633 - POTEC B2RU33 VAR_045830 p.Lys36Arg Polymorphism rs45570841 - POTEC B2RU33 VAR_045831 p.His66Arg Polymorphism rs9807555 - POTEC B2RU33 VAR_045832 p.Cys72Tyr Polymorphism rs45554841 - POTEC B2RU33 VAR_045833 p.His86Asp Polymorphism rs45469098 - POTEC B2RU33 VAR_045834 p.Met166Ile Polymorphism rs12454500 - POTEC B2RU33 VAR_045835 p.Cys221Arg Polymorphism rs7505568 - POTED Q86YR6 VAR_016242 p.Gly113Ser Polymorphism rs6517869 - POTED Q86YR6 VAR_016243 p.Ile135Val Polymorphism rs6517870 - POTED Q86YR6 VAR_064765 p.Glu172Gln Polymorphism - - POU1F1 P28069 VAR_003776 p.Gln4Arg Polymorphism rs1051612 - POU1F1 P28069 VAR_003777 p.Pro24Leu Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_003778 p.Arg143Gln Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_003779 p.Ala158Pro Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_003780 p.Asp227Tyr Polymorphism rs1131815 - POU1F1 P28069 VAR_003781 p.Arg271Trp Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_010574 p.Phe135Cys Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_010575 p.Glu174Gly Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_010576 p.Pro239Ser Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_015260 p.Trp193Arg Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_049361 p.Ala19Val Polymorphism rs35182189 - POU1F1 P28069 VAR_063425 p.Arg172Gln Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_063426 p.Ser179Arg Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU1F1 P28069 VAR_063427 p.Glu230Lys Disease - Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] POU2AF1 Q16633 VAR_005521 p.Thr141Ala Polymorphism rs1042750 - POU2AF1 Q16633 VAR_005522 p.Gln194Arg Polymorphism rs1042751 - POU2F1 P14859 VAR_035816 p.Ser88Phe Unclassified - A breast cancer sample POU2F3 Q9UKI9 VAR_031618 p.His152Arg Polymorphism rs7110845 - POU2F3 Q9UKI9 VAR_055906 p.Arg390Lys Polymorphism rs2282537 - POU3F4 P49335 VAR_003782 p.Ala312Val Disease - Deafness X-linked type 2 (DFNX2) [MIM:304400] POU3F4 P49335 VAR_003783 p.Leu317Trp Disease - Deafness X-linked type 2 (DFNX2) [MIM:304400] POU3F4 P49335 VAR_003784 p.Arg323Gly Disease - Deafness X-linked type 2 (DFNX2) [MIM:304400] POU3F4 P49335 VAR_003785 p.Arg330Ser Disease - Deafness X-linked type 2 (DFNX2) [MIM:304400] POU3F4 P49335 VAR_003786 p.Lys334Glu Disease - Deafness X-linked type 2 (DFNX2) [MIM:304400] POU4F2 Q12837 VAR_059321 p.Ile40Thr Polymorphism rs13152799 - POU4F3 Q15319 VAR_045682 p.Leu223Pro Disease - Deafness autosomal dominant type 15 (DFNA15) [MIM:602459] POU4F3 Q15319 VAR_045683 p.Leu289Phe Disease - Deafness autosomal dominant type 15 (DFNA15) [MIM:602459] POU5F1 Q01860 VAR_003774 p.Thr322Ala Polymorphism - - POU5F1 Q01860 VAR_003775 p.Met357Leu Polymorphism - - POU5F1 Q01860 VAR_046203 p.Leu226Phe Polymorphism rs1150767 - POU5F1 Q01860 VAR_046204 p.Thr351Ile Polymorphism rs1061120 - POU6F2 P78424 VAR_022419 p.Gln192His Disease - Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583] POU6F2 P78424 VAR_028410 p.Pro199Leu Polymorphism rs2074936 - POU6F2 P78424 VAR_028411 p.Leu500Met Polymorphism rs4992268 - POU6F2 P78424 VAR_028412 p.Glu639Lys Polymorphism rs7804851 - PP2D1 A8MPX8 VAR_039272 p.Arg37His Polymorphism rs9882323 - PP2D1 A8MPX8 VAR_039273 p.Phe123Leu Polymorphism rs7652446 - PP2D1 A8MPX8 VAR_039274 p.Ala260Thr Polymorphism rs4103004 - PPA1 Q15181 VAR_036358 p.Lys57Asn Unclassified - A breast cancer sample PPA2 Q9H2U2 VAR_019723 p.Lys282Asn Polymorphism rs13787 - PPAN Q9NQ55 VAR_022157 p.Gly358Val Polymorphism rs2305793 - PPAN Q9NQ55 VAR_048422 p.Gln408Arg Polymorphism rs11559188 - PPAP2C O43688 VAR_061541 p.Ala180Val Polymorphism rs1138439 - PPAPDC2 Q8IY26 VAR_026645 p.Ser140Trp Polymorphism rs17857157 - PPAPDC2 Q8IY26 VAR_050616 p.Ser7Gly Polymorphism rs34250374 - PPAPDC2 Q8IY26 VAR_050617 p.Met8Thr Polymorphism rs35791393 - PPAPDC3 Q8NBV4 VAR_026646 p.Thr174Met Polymorphism rs2966332 - PPAPDC3 Q8NBV4 VAR_026647 p.Leu267Val Polymorphism rs11244366 - PPARA Q07869 VAR_016110 p.Arg127Gln Polymorphism rs1800204 - PPARA Q07869 VAR_016111 p.Leu162Val Polymorphism rs1800206 - PPARA Q07869 VAR_016112 p.Val227Ala Polymorphism rs1800234 - PPARA Q07869 VAR_016113 p.Ala268Val Polymorphism rs1042311 - PPARA Q07869 VAR_016114 p.Asp304Asn Polymorphism rs1800242 - PPARA Q07869 VAR_016115 p.Arg409Thr Polymorphism rs1800243 - PPARA Q07869 VAR_050578 p.Gly395Arg Polymorphism rs2229245 - PPARGC1A Q9UBK2 VAR_018450 p.Gly482Ser Polymorphism rs8192678 - PPARGC1A Q9UBK2 VAR_018451 p.Thr612Met Polymorphism rs3736265 - PPARGC1B Q86YN6 VAR_026698 p.Ala203Pro Polymorphism rs7732671 - PPARGC1B Q86YN6 VAR_026699 p.Arg265Gln Polymorphism rs45520937 - PPARGC1B Q86YN6 VAR_026700 p.Val279Ile Polymorphism rs17572019 - PPARGC1B Q86YN6 VAR_026701 p.Arg292Ser Polymorphism rs11959820 - PPARG P37231 VAR_010723 p.Pro12Ala Polymorphism rs1801282 - PPARG P37231 VAR_010724 p.Pro113Gln Disease rs1800571 Obesity (OBESITY) [MIM:601665] PPARG P37231 VAR_010725 p.Gln314Pro Unclassified rs28936407 Colon cancer PPARG P37231 VAR_010726 p.Arg316His Unclassified rs28936407 Colon cancer PPARG P37231 VAR_010727 p.Val318Met Unclassified - - PPARG P37231 VAR_010728 p.Pro495Leu Unclassified - - PPARG P37231 VAR_016116 p.Pro40Ala Polymorphism rs1805192 - PPARG P37231 VAR_022700 p.Phe388Leu Disease - Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367] PPARG P37231 VAR_022701 p.Arg425Cys Disease - Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367] PPEF1 O14829 VAR_051736 p.Lys367Thr Polymorphism rs1065074 - PPEF1 O14829 VAR_051737 p.Gly443Ser Polymorphism rs11796620 - PPEF2 O14830 VAR_010230 p.Ser120Arg Polymorphism - - PPEF2 O14830 VAR_055121 p.Val394Leu Polymorphism rs34097437 - PPEF2 O14830 VAR_055122 p.Glu412Lys Polymorphism rs35599561 - PPEF2 O14830 VAR_055123 p.Arg553Lys Polymorphism rs34155925 - PPEF2 O14830 VAR_055124 p.Ser575Cys Polymorphism rs17000961 - PPEF2 O14830 VAR_061759 p.Met481Leu Polymorphism rs6858658 - PPFIA1 Q13136 VAR_017756 p.Val71Ile Polymorphism rs546502 - PPFIA1 Q13136 VAR_049998 p.Leu1072Phe Polymorphism rs11236045 - PPFIA3 O75145 VAR_017757 p.Ala563Ser Polymorphism rs2303053 - PPFIBP1 Q86W92 VAR_017758 p.Val148Leu Polymorphism rs2194816 - PPFIBP2 Q8ND30 VAR_049999 p.Arg658Gly Polymorphism rs4758209 - PPHLN1 Q8NEY8 VAR_036233 p.Val173Met Unclassified - A breast cancer sample PPIB P23284 VAR_047711 p.Val60Leu Polymorphism rs11558595 - PPIB P23284 VAR_063436 p.Met9Arg Disease - Osteogenesis imperfecta type 9 (OI9) [MIM:259440] PPIC P45877 VAR_024319 p.Asn190Ser Polymorphism rs451195 - PPIC P45877 VAR_051770 p.Lys86Arg Polymorphism rs34341374 - PPIC P45877 VAR_060712 p.His160Leu Polymorphism - - PPID Q08752 VAR_021021 p.Arg49Cys Polymorphism rs2070631 - PPID Q08752 VAR_021022 p.Leu302Ile Polymorphism rs9410 - PPID Q08752 VAR_021023 p.Gly335Glu Polymorphism rs17843956 - PPID Q08752 VAR_051771 p.Asp196Val Polymorphism rs2230222 - PPIG Q13427 VAR_055084 p.Asp445Glu Polymorphism rs1050354 - PPIG Q13427 VAR_055085 p.Asn699Asp Polymorphism rs8207 - PPIL1 Q9Y3C6 VAR_051772 p.Cys36Ser Polymorphism rs12194408 - PPIL3 Q9H2H8 VAR_023417 p.Asp146Glu Polymorphism rs7562391 - PPIL6 Q8IXY8 VAR_029620 p.His110Arg Polymorphism rs9398200 - PPIP5K2 O43314 VAR_038276 p.Ala944Gly Polymorphism rs17155115 - PPIP5K2 O43314 VAR_038277 p.Glu985Lys Polymorphism rs12519525 - PPIP5K2 O43314 VAR_038278 p.Arg1003Lys Polymorphism rs12520040 - PPIP5K2 O43314 VAR_038279 p.Pro1206Gln Polymorphism rs17155138 - PPIP5K2 O43314 VAR_038280 p.Thr1232Met Polymorphism rs17155147 - PPL O60437 VAR_055125 p.Arg520Gln Polymorphism rs8063727 - PPL O60437 VAR_055126 p.Ala572Ser Polymorphism rs35300633 - PPL O60437 VAR_055127 p.Arg589Gln Polymorphism rs1049205 - PPL O60437 VAR_055128 p.His631Tyr Polymorphism rs34936263 - PPL O60437 VAR_055129 p.Arg819Ser Polymorphism rs2734742 - PPL O60437 VAR_055130 p.Glu891Gln Polymorphism rs35869286 - PPL O60437 VAR_055131 p.Ala1007Val Polymorphism rs2075639 - PPL O60437 VAR_055132 p.Glu1199Gln Polymorphism rs12446946 - PPL O60437 VAR_055133 p.Gln1573Glu Polymorphism rs2037912 - PPL O60437 VAR_055134 p.Gly1754Arg Polymorphism rs35865314 - PPM1E Q8WY54 VAR_036518 p.Leu231Ser Unclassified - A breast cancer sample PPM1E Q8WY54 VAR_036519 p.Arg320Gly Unclassified - A breast cancer sample PPM1F P49593 VAR_024580 p.Leu420Arg Polymorphism rs2070507 - PPM1F P49593 VAR_036520 p.Arg296Gln Unclassified - A colorectal cancer sample PPM1F P49593 VAR_036521 p.Gln417Lys Unclassified - A breast cancer sample PPM1F P49593 VAR_050620 p.Arg132Cys Polymorphism rs9610645 - PPM1J Q5JR12 VAR_032566 p.Leu213Phe Polymorphism rs34611728 - PPM1J Q5JR12 VAR_032567 p.Val236Ile Polymorphism rs10857971 - PPM1K Q8N3J5 VAR_030691 p.Asn94Lys Polymorphism rs17853762 - PPM1K Q8N3J5 VAR_050621 p.Glu321Lys Polymorphism rs35523553 - PPM1L Q5SGD2 VAR_050622 p.Ala262Ser Polymorphism rs13326359 - PPOX P50336 VAR_003686 p.Arg59Trp Disease - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_003687 p.Arg152Cys Disease - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_003688 p.Arg168Cys Polymorphism - - PPOX P50336 VAR_003689 p.Gly232Arg Disease - Variegate porphyria (VP) [MIM:176200] PPOX P50336 VAR_003690 p.Arg304His Polymorphism rs36013429 - PPOX P50336 VAR_034395 p.Pro256Arg Polymorphism rs12735723 - PPP1CC P36873 VAR_051734 p.Phe152Ser Polymorphism rs11558237 - PPP1R10 Q96QC0 VAR_051747 p.Arg173Pro Polymorphism rs16897725 - PPP1R12A O14974 VAR_038949 p.Cys116Trp Polymorphism rs12582646 - PPP1R12A O14974 VAR_038950 p.Thr305Pro Polymorphism rs2596781 - PPP1R12A O14974 VAR_038951 p.Lys734Asn Polymorphism rs12820960 - PPP1R12B O60237 VAR_017480 p.Val182Ile Polymorphism rs2843414 - PPP1R12B O60237 VAR_024177 p.Arg836Lys Polymorphism rs3881953 - PPP1R12C Q9BZL4 VAR_048310 p.Arg419Cys Polymorphism rs35849605 - PPP1R14C Q8TAE6 VAR_025547 p.Thr10Ala Polymorphism rs2297672 - PPP1R15A O75807 VAR_039186 p.Arg31His Polymorphism rs564196 - PPP1R15A O75807 VAR_039187 p.Ala32Thr Polymorphism rs3786734 - PPP1R15A O75807 VAR_039188 p.Val199Ala Polymorphism rs611251 - PPP1R15A O75807 VAR_039189 p.Arg251Pro Polymorphism rs557806 - PPP1R15A O75807 VAR_039190 p.Lys277Glu Polymorphism rs610308 - PPP1R15A O75807 VAR_039191 p.Ala316Pro Polymorphism rs556052 - PPP1R15A O75807 VAR_039192 p.Ala381Val Polymorphism rs1050166 - PPP1R15A O75807 VAR_039193 p.Arg476Ser Polymorphism rs35087747 - PPP1R15A O75807 VAR_039194 p.Arg594Cys Polymorphism rs2270946 - PPP1R15A O75807 VAR_039195 p.Thr597Ala Polymorphism rs500079 - PPP1R15A O75807 VAR_062226 p.Gly312Ser Polymorphism rs11541192 - PPP1R15B Q5SWA1 VAR_039196 p.Pro26Ser Polymorphism rs12094135 - PPP1R15B Q5SWA1 VAR_039197 p.Glu144Lys Polymorphism rs4492688 - PPP1R15B Q5SWA1 VAR_039198 p.Asn308Ser Polymorphism rs3014626 - PPP1R15B Q5SWA1 VAR_039199 p.Glu363Gly Polymorphism rs2089891 - PPP1R15B Q5SWA1 VAR_039200 p.Lys589Glu Polymorphism rs17855962 - PPP1R17 O96001 VAR_027838 p.Leu12Val Polymorphism rs3735422 - PPP1R17 O96001 VAR_051025 p.Leu10Arg Polymorphism rs36047130 - PPP1R18 Q6NYC8 VAR_034045 p.Pro356Leu Polymorphism rs2213944 - PPP1R18 Q6NYC8 VAR_046132 p.Arg222Gly Polymorphism rs9262144 - PPP1R18 Q6NYC8 VAR_046133 p.Gly339Arg Polymorphism rs9262143 - PPP1R1A Q13522 VAR_053898 p.Glu109Gly Polymorphism rs1249958 - PPP1R1A Q13522 VAR_053899 p.Gly147Asp Polymorphism rs34376731 - PPP1R26 Q5T8A7 VAR_036906 p.Val98Ala Polymorphism rs3748192 - PPP1R26 Q5T8A7 VAR_036907 p.Lys206Glu Polymorphism rs3928777 - PPP1R26 Q5T8A7 VAR_036908 p.Arg346Lys Polymorphism rs914644 - PPP1R26 Q5T8A7 VAR_036909 p.Met434Thr Polymorphism rs1808998 - PPP1R26 Q5T8A7 VAR_036910 p.Arg520His Polymorphism rs3748195 - PPP1R26 Q5T8A7 VAR_036911 p.Gly576Ser Polymorphism rs17854528 - PPP1R26 Q5T8A7 VAR_036912 p.Asn834Asp Polymorphism rs2078266 - PPP1R32 Q7Z5V6 VAR_030271 p.Thr238Asn Polymorphism rs11230707 - PPP1R32 Q7Z5V6 VAR_030272 p.Ser382Thr Polymorphism rs12787061 - PPP1R36 Q96LQ0 VAR_022999 p.Thr83Ile Polymorphism rs6573560 - PPP1R36 Q96LQ0 VAR_061612 p.Phe267Leu Polymorphism rs45482504 - PPP1R3A Q16821 VAR_019697 p.Arg883Ser Polymorphism rs1800000 - PPP1R3A Q16821 VAR_019698 p.Asp905Tyr Polymorphism rs1799999 - PPP1R3A Q16821 VAR_019699 p.Ala931Glu Disease rs35449651 Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853] PPP1R3A Q16821 VAR_027929 p.Gly45Ser Polymorphism rs8192687 - PPP1R3A Q16821 VAR_027930 p.Cys231Tyr Polymorphism rs7801819 - PPP1R3A Q16821 VAR_027931 p.Val451Met Polymorphism rs2974942 - PPP1R3A Q16821 VAR_027932 p.Asn476Lys Polymorphism rs2974944 - PPP1R3A Q16821 VAR_027933 p.Glu748Lys Polymorphism rs4304271 - PPP1R3A Q16821 VAR_027934 p.Leu882His Polymorphism rs2974938 - PPP1R3A Q16821 VAR_036287 p.Gly554Ala Unclassified - A breast cancer sample PPP1R3A Q16821 VAR_057128 p.Arg627Lys Polymorphism rs35067467 - PPP1R3B Q86XI6 VAR_039814 p.Gly48Glu Polymorphism rs3748140 - PPP1R3C Q9UQK1 VAR_059775 p.Ala109Ser Polymorphism rs7089948 - PPP1R3F Q6ZSY5 VAR_028918 p.Phe351Ser Polymorphism rs17148347 - PPP1R3G B7ZBB8 VAR_063262 p.Pro280Gln Polymorphism rs436556 - PPP1R9A Q9ULJ8 VAR_051746 p.Met331Val Polymorphism rs10230714 - PPP1R9B Q96SB3 VAR_059776 p.Ala199Thr Polymorphism rs8079707 - PPP2CA P67775 VAR_051735 p.Val52Ala Polymorphism rs11552681 - PPP2R1B P30154 VAR_006384 p.Gly90Asp Unclassified rs1805076 A lung cancer patient PPP2R1B P30154 VAR_022895 p.Gly8Arg Unclassified - A lung cancer patient PPP2R1B P30154 VAR_022896 p.Gly15Ala Unclassified - A colorectal cancer patient PPP2R1B P30154 VAR_022897 p.Pro65Ser Unclassified - A lung cancer patient PPP2R1B P30154 VAR_022898 p.Leu101Pro Unclassified - A colon adenocarcinoma PPP2R1B P30154 VAR_022899 p.Lys343Glu Unclassified - A lung cancer patient PPP2R1B P30154 VAR_022900 p.Ser365Pro Unclassified - A colorectal cancer patient PPP2R1B P30154 VAR_022901 p.Val448Ala Unclassified - A colon adenocarcinoma PPP2R1B P30154 VAR_022902 p.Val498Glu Unclassified - A colorectal cancer patient PPP2R1B P30154 VAR_022903 p.Leu499Ile Unclassified - A colorectal cancer patient PPP2R1B P30154 VAR_022904 p.Val500Gly Unclassified - A colorectal cancer patient PPP2R1B P30154 VAR_022905 p.Asp504Gly Unclassified - A lung cancer patient PPP2R1B P30154 VAR_022906 p.Val545Ala Unclassified - A colon adenocarcinoma PPP2R2B Q00005 VAR_051738 p.Gly36Val Polymorphism rs11547494 - PPP2R2D Q66LE6 VAR_057127 p.Gly358Ser Polymorphism rs34473884 - PPP2R3A Q06190 VAR_022095 p.Asp745Asn Polymorphism rs16843645 - PPP2R3A Q06190 VAR_051739 p.Asp67Gly Polymorphism rs9814557 - PPP2R3A Q06190 VAR_051740 p.Asn108Ser Polymorphism rs36020282 - PPP2R3A Q06190 VAR_051741 p.Ala171Ser Polymorphism rs6779903 - PPP2R3A Q06190 VAR_051742 p.Pro481Ala Polymorphism rs34901937 - PPP2R3A Q06190 VAR_051743 p.Ser642Gly Polymorphism rs17197552 - PPP2R3A Q06190 VAR_051744 p.Pro695Leu Polymorphism rs9826032 - PPP2R3A Q06190 VAR_061760 p.Asp67Asn Polymorphism rs57374999 - PPP2R3B Q9Y5P8 VAR_035109 p.Asp163Glu Polymorphism rs3813594 - PPP2R3B Q9Y5P8 VAR_055356 p.Ala519Val Polymorphism rs1133520 - PPP2R4 Q15257 VAR_028101 p.Lys28Arg Polymorphism rs17481693 - PPP2R4 Q15257 VAR_028102 p.Arg208Gln Polymorphism rs4836639 - PPP2R4 Q15257 VAR_028103 p.Ser357Leu Polymorphism rs2480452 - PPP2R5C Q13362 VAR_051745 p.Ala515Pro Polymorphism rs3742424 - PPP3CC P48454 VAR_061758 p.Ala501Val Polymorphism rs28764007 - PPP4R1 Q8TF05 VAR_017807 p.Glu43Lys Polymorphism rs1056191 - PPP4R1 Q8TF05 VAR_017808 p.Ile470Val Polymorphism rs329003 - PPP4R1 Q8TF05 VAR_017809 p.Ser595Asn Polymorphism rs2306134 - PPP4R1 Q8TF05 VAR_051748 p.Ser593Asn Polymorphism rs2306134 - PPP4R2 Q9NY27 VAR_034811 p.Ser282Cys Polymorphism rs34742137 - PPP4R2 Q9NY27 VAR_051749 p.Pro174Leu Polymorphism rs2306983 - PPP6R2 O75170 VAR_058402 p.Asp633Glu Polymorphism rs11555194 - PPP6R2 O75170 VAR_058403 p.Arg732Lys Polymorphism rs13057311 - PPP6R3 Q5H9R7 VAR_057720 p.Ala842Val Polymorphism rs34009811 - PPRC1 Q5VV67 VAR_034633 p.Ser536Gly Polymorphism rs17114388 - PPRC1 Q5VV67 VAR_034634 p.Pro834Arg Polymorphism rs17855877 - PPT1 P50897 VAR_005548 p.His39Gln Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005549 p.Gly42Glu Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005550 p.Thr75Pro Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005551 p.Asp79Gly Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005552 p.Tyr109Asp Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005553 p.Arg122Trp Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005554 p.Ile134Thr Polymorphism rs1800205 - PPT1 P50897 VAR_005555 p.Gln177Glu Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005556 p.Val181Leu Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005557 p.Val181Met Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005558 p.Leu219Gln Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005559 p.Tyr247His Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_005560 p.Gly250Val Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_018511 p.Gly108Arg Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT1 P50897 VAR_058434 p.Trp38Cys Disease - Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] PPT2 Q9UMR5 VAR_027107 p.Cys5Trp Polymorphism rs3134604 - PPT2 Q9UMR5 VAR_027108 p.Ala34Glu Polymorphism rs3096696 - PPY P01298 VAR_050615 p.Glu78Gly Polymorphism rs7215698 - PPYR1 P50391 VAR_030337 p.Ala99Ser Polymorphism rs2229967 - PPYR1 P50391 VAR_030338 p.Arg240Cys Polymorphism rs3824733 - PQBP1 O60828 VAR_036357 p.Arg224Trp Unclassified - A colorectal cancer sample PQLC1 Q8N2U9 VAR_035979 p.Gly175Ala Unclassified - A colorectal cancer sample PQLC2 Q6ZP29 VAR_031409 p.Ser16Asn Polymorphism rs12140547 - PRAC Q96KF2 VAR_051285 p.Ala4Val Polymorphism rs34734055 - PRAF2 O60831 VAR_050628 p.Leu56Phe Polymorphism rs34565429 - PRAM1 Q96QH2 VAR_029808 p.Lys57Gln Polymorphism rs4804305 - PRAM1 Q96QH2 VAR_029809 p.Gln73Pro Polymorphism rs4239541 - PRAM1 Q96QH2 VAR_029810 p.Phe76Val Polymorphism rs4239540 - PRAM1 Q96QH2 VAR_061692 p.Gly183Glu Polymorphism rs58466313 - PRAMEF10 O60809 VAR_029104 p.Lys99Ile Polymorphism rs3121398 - PRAMEF10 O60809 VAR_029105 p.His144Arg Polymorphism rs2797709 - PRAMEF10 O60809 VAR_029106 p.Thr306Ala Polymorphism rs848424 - PRAMEF10 O60809 VAR_029107 p.Gly402Arg Polymorphism rs1736772 - PRAMEF12 O95522 VAR_053608 p.Thr53Lys Polymorphism rs17346571 - PRAMEF12 O95522 VAR_053609 p.Met157Thr Polymorphism rs1812242 - PRAMEF1 O95521 VAR_034396 p.Gln252Glu Polymorphism rs1063776 - PRAMEF1 O95521 VAR_034397 p.Tyr302Cys Polymorphism rs17404799 - PRAMEF1 O95521 VAR_034398 p.Tyr316Phe Polymorphism rs17039293 - PRAMEF1 O95521 VAR_034399 p.Arg375Cys Polymorphism rs17039307 - PRAMEF1 O95521 VAR_053604 p.Leu204Met Polymorphism rs1063767 - PRAMEF1 O95521 VAR_053605 p.Arg386Ser Polymorphism rs1052908 - PRAMEF1 O95521 VAR_060091 p.Pro218Ser Polymorphism rs1769774 - PRAMEF1 O95521 VAR_060092 p.Ala372Gly Polymorphism rs1063795 - PRAMEF1 O95521 VAR_062138 p.Arg213His Polymorphism rs1063769 - PRAMEF2 O60811 VAR_034400 p.Val67Gly Polymorphism rs3204790 - PRAMEF2 O60811 VAR_034401 p.Ser68Trp Polymorphism rs17038657 - PRAMEF2 O60811 VAR_034402 p.Thr72Arg Polymorphism rs9659529 - PRAMEF2 O60811 VAR_034403 p.Ala128Thr Polymorphism rs17039442 - PRAMEF2 O60811 VAR_034404 p.Thr141Met Polymorphism rs17038667 - PRAMEF2 O60811 VAR_034405 p.Tyr225Cys Polymorphism rs3204805 - PRAMEF2 O60811 VAR_034406 p.Thr233Asn Polymorphism rs17038692 - PRAMEF2 O60811 VAR_034407 p.Thr301Ala Polymorphism rs12139546 - PRAMEF2 O60811 VAR_034408 p.Cys302Tyr Polymorphism rs17404799 - PRAMEF2 O60811 VAR_034409 p.Asn304Tyr Polymorphism rs17404806 - PRAMEF2 O60811 VAR_034410 p.Glu308Gly Polymorphism rs12139550 - PRAMEF2 O60811 VAR_034411 p.Leu310Met Polymorphism rs17039283 - PRAMEF2 O60811 VAR_034412 p.Phe316Tyr Polymorphism rs17039293 - PRAMEF2 O60811 VAR_034413 p.Cys375Arg Polymorphism rs17039307 - PRAMEF2 O60811 VAR_053606 p.Glu83Lys Polymorphism rs9728577 - PRAMEF2 O60811 VAR_060093 p.Arg33Ser Polymorphism rs9661554 - PRAMEF4 O60810 VAR_053607 p.Asp85Glu Polymorphism rs4625290 - PRAME P78395 VAR_021258 p.Trp7Arg Polymorphism rs2266988 - PRAME P78395 VAR_062137 p.Met218Val Polymorphism rs41277507 - PRAP1 Q96NZ9 VAR_034815 p.Glu54Gly Unclassified - - PRAP1 Q96NZ9 VAR_034816 p.Lys69Arg Unclassified - - PRAP1 Q96NZ9 VAR_034817 p.Gly81Ser Polymorphism rs34780987 - PRAP1 Q96NZ9 VAR_034818 p.His101Arg Polymorphism rs4369319 - PRB2 P02812 VAR_019695 p.Ser274Pro Polymorphism rs10845349 - PRB2 P02812 VAR_061693 p.Gln233Arg Polymorphism rs34305575 - PRB3 Q04118 VAR_019696 p.Pro53Cys Unclassified - - PRB3 Q04118 VAR_055032 p.Pro186Gln Polymorphism rs11054208 - PRB4 P10163 VAR_031548 p.Arg185Gly Polymorphism rs11054244 - PRB4 P10163 VAR_031549 p.Pro186Arg Polymorphism rs11054243 - PRB4 P10163 VAR_031550 p.Pro200His Polymorphism rs12308244 - PRB4 P10163 VAR_031551 p.Pro272Ala Polymorphism rs1052808 - PRC1 O43663 VAR_047768 p.Ala187Glu Polymorphism rs7172758 - PRC1 O43663 VAR_047769 p.Tyr511Cys Polymorphism rs12911192 - PRCC Q92733 VAR_024341 p.Pro136Ser Polymorphism rs11264542 - PRCD Q00LT1 VAR_031122 p.Cys2Tyr Disease - Retinitis pigmentosa type 36 (RP36) [MIM:610599] PRCD Q00LT1 VAR_031123 p.Arg17Cys Polymorphism - - PRCD Q00LT1 VAR_031124 p.Val30Met Disease - Retinitis pigmentosa type 36 (RP36) [MIM:610599] PRCP P42785 VAR_020464 p.Glu112Asp Polymorphism rs2298668 - PRCP P42785 VAR_029329 p.Thr444Ser Polymorphism rs2228312 - PRDM10 Q9NQV6 VAR_019984 p.Thr573Ala Polymorphism rs2241571 - PRDM10 Q9NQV6 VAR_054418 p.Ala22Thr Polymorphism rs11221912 - PRDM14 Q9GZV8 VAR_021895 p.Lys244Glu Polymorphism rs3750228 - PRDM15 P57071 VAR_014992 p.Val1342Ile Polymorphism rs3819158 - PRDM15 P57071 VAR_014993 p.Thr1376Ser Polymorphism rs2236695 - PRDM15 P57071 VAR_014994 p.Ser1481Pro Polymorphism rs3850706 - PRDM16 Q9HAZ2 VAR_031433 p.Ser533Pro Polymorphism rs870124 - PRDM16 Q9HAZ2 VAR_031434 p.Pro633Leu Polymorphism rs2493292 - PRDM1 O75626 VAR_019983 p.Gly74Ser Polymorphism rs2185379 - PRDM1 O75626 VAR_024221 p.Asp203Glu Polymorphism rs811925 - PRDM2 Q13029 VAR_052929 p.Asp283Glu Polymorphism rs2076324 - PRDM2 Q13029 VAR_052930 p.Ser450Asn Polymorphism rs17350795 - PRDM7 Q9NQW5 VAR_057461 p.Asp90Glu Polymorphism rs12925933 - PRDM7 Q9NQW5 VAR_057462 p.Arg131Lys Polymorphism rs2078478 - PRDM7 Q9NQW5 VAR_057463 p.Asn435Lys Polymorphism rs7206111 - PRDM9 Q9NQV7 VAR_054417 p.Tyr335His Polymorphism - - PRDX1 Q06830 VAR_025050 p.Arg62Gly Polymorphism rs34034070 - PRDX2 P32119 VAR_025051 p.Asp153Glu Polymorphism rs34012472 - PRDX3 P30048 VAR_025052 p.Ser55Arg Polymorphism - - PRDX3 P30048 VAR_025053 p.Ala218Thr Polymorphism - - PRDX3 P30048 VAR_025054 p.Thr234Ile Polymorphism rs35697338 - PRDX3 P30048 VAR_059546 p.Arg170Gln Polymorphism rs11554902 - PRDX5 P30044 VAR_025049 p.Tyr33Cys Polymorphism rs7938623 - PRDX5 P30044 VAR_036406 p.Phe157Leu Unclassified - A breast cancer sample PRELID2 Q8N945 VAR_053910 p.Asn99Ser Polymorphism rs9324996 - PRELP P51888 VAR_011976 p.Asn348His Polymorphism rs9439 - PRELP P51888 VAR_052012 p.Met157Val Polymorphism rs2233726 - PRELP P51888 VAR_052013 p.Asn334Ser Polymorphism rs2233732 - PRELP P51888 VAR_061804 p.Gly33Arg Polymorphism rs41313926 - PREP P48147 VAR_047790 p.Leu351Val Polymorphism rs12192054 - PREP P48147 VAR_047791 p.Val706Ile Polymorphism rs1051484 - PREX1 Q8TCU6 VAR_023210 p.Val1240Ile Polymorphism rs16993997 - PREX1 Q8TCU6 VAR_023211 p.Lys1340Glu Polymorphism rs2664521 - PREX1 Q8TCU6 VAR_023212 p.Ser1559Thr Polymorphism rs3936192 - PREX1 Q8TCU6 VAR_057191 p.Arg696Cys Polymorphism rs7271583 - PREX1 Q8TCU6 VAR_057192 p.Ala1118Thr Polymorphism rs6012504 - PREX1 Q8TCU6 VAR_061798 p.Val659Met Polymorphism rs55904123 - PREX1 Q8TCU6 VAR_061799 p.Gln786His Polymorphism rs41283558 - PREX2 Q70Z35 VAR_032163 p.Asp312Asn Polymorphism rs11784582 - PREX2 Q70Z35 VAR_035973 p.Val537Ile Unclassified - A colorectal cancer sample PREX2 Q70Z35 VAR_035974 p.Ala1571Glu Unclassified - A colorectal cancer sample PRF1 P14222 VAR_010744 p.Val183Gly Disease - Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010745 p.Arg225Trp Disease rs28933973 Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010746 p.Asn252Ser Disease rs28933375 Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010747 p.Cys279Tyr Disease - Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010748 p.Pro345Leu Disease rs28933374 Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010749 p.Gly429Glu Disease - Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010772 p.Val50Met Disease - Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_010773 p.Arg123His Polymorphism - - PRF1 P14222 VAR_010774 p.Ile224Asn Disease - Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] PRF1 P14222 VAR_029773 p.Val135Met Polymorphism rs12263572 - PRF1 P14222 VAR_050482 p.Ala91Val Polymorphism rs35947132 - PRF1 P14222 VAR_061504 p.Arg4His Polymorphism rs35418374 - PRG2 P13727 VAR_036401 p.Arg179Cys Unclassified - A colorectal cancer sample PRG2 P13727 VAR_060729 p.His206Tyr Polymorphism rs536455 - PRG3 Q9Y2Y8 VAR_050117 p.Cys3Arg Polymorphism rs669661 - PRG3 Q9Y2Y8 VAR_050118 p.Ile109Thr Polymorphism rs540687 - PRG4 Q92954 VAR_024023 p.Arg180Trp Polymorphism rs2273779 - PRG4 Q92954 VAR_051559 p.Asn1130Ser Polymorphism rs10158395 - PRG4 Q92954 VAR_051560 p.Ile1272Thr Polymorphism rs1293985 - PRG4 Q92954 VAR_051561 p.Thr1296Met Polymorphism rs12134934 - PRH1 P02810 VAR_005563 p.Asp20Asn Polymorphism rs1130404 - PRH1 P02810 VAR_005564 p.Asp66Asn Polymorphism rs1049112 - PRH1 P02810 VAR_005565 p.Gln163Lys Polymorphism - - PRH1 P02810 VAR_023240 p.Ile42Leu Polymorphism rs2923234 - PRH1 P02810 VAR_023242 p.Arg119Cys Polymorphism - - PRHOXNB A6NGE7 VAR_053987 p.Gln57Pro Polymorphism rs3897926 - PRICKLE1 Q96MT3 VAR_054663 p.Arg104Gln Disease - Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437] PRICKLE1 Q96MT3 VAR_056164 p.Pro746Ser Polymorphism rs3827522 - PRICKLE1 Q96MT3 VAR_065580 p.Arg144His Disease - Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437] PRICKLE1 Q96MT3 VAR_065581 p.Tyr472His Disease - Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437] PRICKLE2 Q7Z3G6 VAR_065582 p.Arg148His Disease - Progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832] PRICKLE2 Q7Z3G6 VAR_065583 p.Val153Ile Disease - Progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832] PRICKLE2 Q7Z3G6 VAR_065584 p.Val605Phe Disease - Progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832] PRICKLE3 O43900 VAR_036188 p.Glu558Asp Unclassified - A breast cancer sample PRICKLE3 O43900 VAR_050169 p.Arg343Cys Polymorphism rs7065449 - PRICKLE4 Q2TBC4 VAR_056165 p.Ser266Arg Polymorphism rs28403585 - PRIM1 P49642 VAR_021898 p.Asp5Ala Polymorphism rs2277339 - PRIM2 P49643 VAR_051506 p.Gln265Leu Polymorphism rs3763183 - PRIM2 P49643 VAR_059742 p.Glu181Lys Polymorphism rs5011403 - PRIM2 P49643 VAR_059743 p.Asp204Gly Polymorphism rs6913546 - PRIM2 P49643 VAR_059744 p.Gly259Ser Polymorphism rs927192 - PRIM2 P49643 VAR_059745 p.Cys287Tyr Polymorphism rs9476080 - PRIM2 P49643 VAR_059746 p.Asp435Gly Polymorphism rs4307164 - PRIM2 P49643 VAR_059747 p.Gln446His Polymorphism rs4294007 - PRIM2 P49643 VAR_059748 p.Pro465Ser Polymorphism rs4294008 - PRIMA1 Q86XR5 VAR_035980 p.Ala22Val Unclassified - A colorectal cancer sample PRKAA1 Q13131 VAR_035622 p.Gln16Arg Unclassified - A breast cancer sample PRKAA1 Q13131 VAR_058401 p.Met10Leu Polymorphism rs17855679 - PRKAA2 P54646 VAR_035623 p.Pro371Thr Unclassified - Breast cancer samples PRKAA2 P54646 VAR_035624 p.Ser523Gly Unclassified - A breast cancer sample PRKAA2 P54646 VAR_040355 p.Arg407Gln Unclassified - A gastric adenocarcinoma sample PRKACA P17612 VAR_040591 p.Leu41Val Polymorphism rs56029020 - PRKACA P17612 VAR_040592 p.Arg46Gln Polymorphism rs56085217 - PRKACA P17612 VAR_040593 p.Ser264Cys Polymorphism rs35635531 - PRKACB P22694 VAR_040594 p.Arg106Gln Polymorphism rs36117118 - PRKACG P22612 VAR_033902 p.His268Asp Polymorphism rs3730386 - PRKACG P22612 VAR_040595 p.Ile251Asn Polymorphism - - PRKAG1 P54619 VAR_033453 p.Thr89Ser Polymorphism rs1126930 - PRKAG1 P54619 VAR_033454 p.Lys329Asn Polymorphism rs34210356 - PRKAG2 Q9UGJ0 VAR_013264 p.Arg302Gln Disease - Cardiomyopathy, familial hypertrophic type 6 (CMH6) [MIM:600858] PRKAG2 Q9UGJ0 VAR_013264 p.Arg302Gln Disease - Wolff-Parkinson-White syndrome (WPWS) [MIM:194200] PRKAG2 Q9UGJ0 VAR_013266 p.His383Arg Disease - Cardiomyopathy, familial hypertrophic type 6 (CMH6) [MIM:600858] PRKAG2 Q9UGJ0 VAR_013267 p.Thr400Asn Disease rs28938173 Cardiomyopathy, familial hypertrophic type 6 (CMH6) [MIM:600858] PRKAG2 Q9UGJ0 VAR_013268 p.Asn488Ile Disease - Cardiomyopathy, familial hypertrophic type 6 (CMH6) [MIM:600858] PRKAG2 Q9UGJ0 VAR_013269 p.Arg531Gln Disease - Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740] PRKAG2 Q9UGJ0 VAR_032909 p.Arg531Gly Disease - Wolff-Parkinson-White syndrome (WPWS) [MIM:194200] PRKAG2 Q9UGJ0 VAR_048250 p.Met6Leu Polymorphism rs3207363 - PRKAG3 Q9UGI9 VAR_023484 p.Pro71Ala Polymorphism rs692243 - PRKAG3 Q9UGI9 VAR_048251 p.Leu153Val Polymorphism rs35050588 - PRKAG3 Q9UGI9 VAR_048252 p.Arg340Trp Polymorphism rs33985460 - PRKAR1A P10644 VAR_046894 p.Ser9Asn Disease - Carney complex type 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046895 p.Arg74Cys Disease - Carney complex type 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046896 p.Arg146Ser Disease - Carney complex type 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046897 p.Asp183Tyr Disease - Carney complex type 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046898 p.Ala213Asp Disease - Carney complex type 1 (CNC1) [MIM:160980] PRKAR1A P10644 VAR_046899 p.Gly289Trp Disease - Carney complex type 1 (CNC1) [MIM:160980] PRKAR2B P31323 VAR_046549 p.Glu335Asp Polymorphism rs3729881 - PRKCA P17252 VAR_042301 p.Pro98Ser Unclassified - A colorectal adenocarcinoma sample PRKCA P17252 VAR_042302 p.Asp467Asn Unclassified - A glioblastoma multiforme sample PRKCA P17252 VAR_042303 p.Met489Val Polymorphism rs34406842 - PRKCA P17252 VAR_050558 p.Val568Ile Polymorphism rs6504459 - PRKCB P05771 VAR_042304 p.Val144Met Unclassified - A colorectal adenocarcinoma sample PRKCB P05771 VAR_042305 p.Val496Met Unclassified - A glioblastoma multiforme sample PRKCB P05771 VAR_042306 p.Pro588His Polymorphism rs35631544 - PRKCDBP Q969G5 VAR_042851 p.Arg8Pro Polymorphism rs2682123 - PRKCDBP Q969G5 VAR_042852 p.Ala104Thr Polymorphism rs10839551 - PRKCDBP Q969G5 VAR_042853 p.Leu158Pro Polymorphism rs1051992 - PRKCDBP Q969G5 VAR_042854 p.Leu255Phe Polymorphism rs12294600 - PRKCD Q05655 VAR_006175 p.Phe375Ser Polymorphism rs1056998 - PRKCD Q05655 VAR_006176 p.Val593Met Polymorphism - - PRKCD Q05655 VAR_020610 p.Met494Val Polymorphism - - PRKCD Q05655 VAR_035347 p.Asn348Ser Polymorphism rs33911937 - PRKCD Q05655 VAR_035348 p.Leu410Phe Polymorphism rs34502209 - PRKCD Q05655 VAR_046009 p.Arg483Trp Polymorphism rs35891605 - PRKCE Q02156 VAR_035466 p.Glu143Lys Unclassified - A colorectal cancer sample PRKCE Q02156 VAR_042307 p.Ala333Val Polymorphism rs55989965 - PRKCE Q02156 VAR_042308 p.Pro389Arg Polymorphism rs55767130 - PRKCE Q02156 VAR_042309 p.Thr563Met Polymorphism rs34077350 - PRKCE Q02156 VAR_050559 p.Ala654Thr Polymorphism rs35777875 - PRKCG P05129 VAR_008755 p.Arg141Cys Polymorphism - - PRKCG P05129 VAR_008756 p.His415Gln Polymorphism - - PRKCG P05129 VAR_008757 p.Ala523Asp Polymorphism - - PRKCG P05129 VAR_008758 p.Arg659Ser Polymorphism - - PRKCG P05129 VAR_017060 p.His101Tyr Disease - Spinocerebellar ataxia type 14 (SCA14) [MIM:605361] PRKCG P05129 VAR_017061 p.Ser119Pro Disease - Spinocerebellar ataxia type 14 (SCA14) [MIM:605361] PRKCG P05129 VAR_017062 p.Gly128Asp Disease - Spinocerebellar ataxia type 14 (SCA14) [MIM:605361] PRKCH P24723 VAR_034604 p.Val374Ile Polymorphism rs2230500 - PRKCH P24723 VAR_042312 p.Ala19Val Polymorphism rs55645551 - PRKCH P24723 VAR_042313 p.Lys65Arg Polymorphism rs55737090 - PRKCH P24723 VAR_042314 p.Arg149Gln Polymorphism rs55848048 - PRKCH P24723 VAR_042315 p.Arg359Gln Polymorphism rs55818778 - PRKCH P24723 VAR_042316 p.Thr575Ala Unclassified - - PRKCH P24723 VAR_042317 p.Thr594Ile Unclassified - A colorectal adenocarcinoma sample PRKCH P24723 VAR_042318 p.Pro612Ser Polymorphism rs34159231 - PRKCH P24723 VAR_042438 p.Asp645Val Polymorphism rs35561533 - PRKCH P24723 VAR_060736 p.Asp497Tyr Polymorphism rs11846991 - PRKCI P41743 VAR_042322 p.Pro118Leu Unclassified - A metastatic melanoma sample PRKCI P41743 VAR_042323 p.Arg130Cys Polymorphism - - PRKCQ Q04759 VAR_020401 p.Pro330Leu Polymorphism rs2236379 - PRKCQ Q04759 VAR_042319 p.Lys240Asn Unclassified - A colorectal adenocarcinoma sample PRKCQ Q04759 VAR_042320 p.Asp306Val Polymorphism rs45590231 - PRKCQ Q04759 VAR_042321 p.Asp354Asn Polymorphism rs34524148 - PRKCSH P14314 VAR_028761 p.Ser74Asn Polymorphism rs10406672 - PRKCSH P14314 VAR_028762 p.Ala291Thr Polymorphism rs11557488 - PRKCSH P14314 VAR_048658 p.Ala338Gly Polymorphism rs35847588 - PRKCZ Q05513 VAR_035467 p.Ser514Phe Unclassified - A colorectal cancer sample PRKCZ Q05513 VAR_042310 p.Arg84His Polymorphism rs56017162 - PRKCZ Q05513 VAR_042311 p.Arg519Cys Unclassified - A colorectal adenocarcinoma sample PRKCZ Q05513 VAR_050560 p.Arg49His Polymorphism rs35271800 - PRKD1 Q15139 VAR_035468 p.His152Tyr Unclassified - A colorectal cancer sample PRKD1 Q15139 VAR_035469 p.Glu857Lys Unclassified - A colorectal cancer sample PRKD1 Q15139 VAR_042324 p.Ser225Pro Polymorphism - - PRKD1 Q15139 VAR_042325 p.Lys478Gln Polymorphism rs55852813 - PRKD1 Q15139 VAR_042326 p.Pro585Ser Unclassified - A metastatic melanoma sample PRKD1 Q15139 VAR_042327 p.Arg677Met Unclassified - A lung bronchoalveolar carcinoma sample PRKD1 Q15139 VAR_042328 p.Pro679Leu Polymorphism rs34588699 - PRKD1 Q15139 VAR_042329 p.His891Arg Polymorphism rs45582934 - PRKD1 Q15139 VAR_046988 p.Arg825Lys Polymorphism rs11161065 - PRKD2 Q9BZL6 VAR_042330 p.Val324Met Polymorphism rs45455991 - PRKD2 Q9BZL6 VAR_042331 p.Ala496Val Polymorphism rs55716765 - PRKD2 Q9BZL6 VAR_042332 p.Ser604Gly Polymorphism rs34325043 - PRKD2 Q9BZL6 VAR_042333 p.Trp773Arg Polymorphism rs55933311 - PRKD2 Q9BZL6 VAR_042334 p.Gly848Glu Unclassified - A lung adenocarcinoma sample PRKD2 Q9BZL6 VAR_042335 p.Gly870Glu Unclassified - A gastric adenocarcinoma sample PRKD2 Q9BZL6 VAR_061531 p.Val835Ala Polymorphism rs314665 - PRKD3 O94806 VAR_037147 p.Asn42Asp Polymorphism rs11896614 - PRKD3 O94806 VAR_037148 p.Ala128Thr Polymorphism rs17852819 - PRKD3 O94806 VAR_037149 p.Gln546Arg Polymorphism rs17856887 - PRKD3 O94806 VAR_042336 p.Val716Met Unclassified - A glioblastoma multiforme sample PRKD3 O94806 VAR_050561 p.Pro225Ser Polymorphism rs34280934 - PRKD3 O94806 VAR_061532 p.Leu445Ile Polymorphism rs55912911 - PRKDC P78527 VAR_019179 p.Ala6Ser Polymorphism rs8177999 - PRKDC P78527 VAR_019180 p.Met333Ile Polymorphism rs8178017 - PRKDC P78527 VAR_019181 p.Thr605Ser Polymorphism rs8178033 - PRKDC P78527 VAR_019182 p.Ile680Met Polymorphism rs8178040 - PRKDC P78527 VAR_019183 p.Pro695Ser Polymorphism rs8178046 - PRKDC P78527 VAR_019184 p.Asn1071Ser Polymorphism rs8178070 - PRKDC P78527 VAR_019185 p.Gly1314Val Polymorphism rs8178090 - PRKDC P78527 VAR_019186 p.Asp1588Val Polymorphism rs8178104 - PRKDC P78527 VAR_019187 p.Gln1603His Polymorphism rs8178106 - PRKDC P78527 VAR_019188 p.Ala2095Val Polymorphism rs8178147 - PRKDC P78527 VAR_019189 p.Lys2702Glu Polymorphism rs8178178 - PRKDC P78527 VAR_019190 p.Arg2899Cys Polymorphism rs4278157 - PRKDC P78527 VAR_019191 p.Gly3149Asp Polymorphism rs8178208 - PRKDC P78527 VAR_019192 p.Pro3201Ser Polymorphism rs8178216 - PRKDC P78527 VAR_019193 p.Gly3404Glu Polymorphism rs8178225 - PRKDC P78527 VAR_019194 p.Ile3434Thr Polymorphism rs7830743 - PRKDC P78527 VAR_019195 p.Asn3459Ser Polymorphism rs8178228 - PRKDC P78527 VAR_019196 p.Leu3562Met Polymorphism rs8178232 - PRKDC P78527 VAR_019197 p.Pro3836Leu Polymorphism rs8178245 - PRKDC P78527 VAR_019198 p.Met3932Val Polymorphism - - PRKDC P78527 VAR_041602 p.Lys263Asn Unclassified - A lung adenocarcinoma sample PRKDC P78527 VAR_041603 p.Val420Ile Polymorphism rs55925466 - PRKDC P78527 VAR_041604 p.Gly500Ser Unclassified - A metastatic melanoma sample PRKDC P78527 VAR_041605 p.Phe649Leu Polymorphism rs55811715 - PRKDC P78527 VAR_041606 p.Arg1136His Unclassified - A colorectal adenocarcinoma sample PRKDC P78527 VAR_041607 p.Leu1190Val Polymorphism rs34598508 - PRKDC P78527 VAR_041608 p.Ala1237Thr Polymorphism - - PRKDC P78527 VAR_041609 p.Leu1279Phe Polymorphism - - PRKDC P78527 VAR_041610 p.Arg1447Met Unclassified - A lung squamous cell carcinoma sample PRKDC P78527 VAR_041611 p.Ala1619Gly Polymorphism rs56182356 - PRKDC P78527 VAR_041612 p.Ala1680Val Unclassified rs55735910 A metastatic melanoma sample PRKDC P78527 VAR_041613 p.Ser2023Pro Polymorphism rs56042895 - PRKDC P78527 VAR_041614 p.Arg2598Gln Polymorphism rs55923149 - PRKDC P78527 VAR_041615 p.Ser2810Asn Unclassified - A metastatic melanoma sample PRKDC P78527 VAR_041616 p.Gly2941Ala Unclassified - A lung neuroendocrine carcinoma sample PRKDC P78527 VAR_041617 p.Glu3085Asp Polymorphism rs56135402 - PRKDC P78527 VAR_041618 p.Thr3198Ser Polymorphism rs55793951 - PRKDC P78527 VAR_041619 p.Leu3584Phe Polymorphism - - PRKDC P78527 VAR_041620 p.Leu3800Ile Polymorphism - - PRKDC P78527 VAR_041621 p.Gly3936Ser Polymorphism - - PRKDC P78527 VAR_041622 p.Val3937Met Polymorphism - - PRKDC P78527 VAR_050534 p.Pro3702Leu Polymorphism rs8178236 - PRKG1 Q13976 VAR_046773 p.Ile249Val Polymorphism rs56082459 - PRKG1 Q13976 VAR_051632 p.Asn267Ser Polymorphism rs34997494 - PRKG2 Q13237 VAR_040608 p.His106Arg Polymorphism rs34616910 - PRKG2 Q13237 VAR_040609 p.Trp716Arg Unclassified - A colorectal adenocarcinoma sample PRKG2 Q13237 VAR_051633 p.Thr22Ser Polymorphism rs34956759 - PRKRA O75569 VAR_046213 p.Pro222Leu Disease - Dystonia type 16 (DYT16) [MIM:612067] PRKRIP1 Q9H875 VAR_039882 p.Ser7Ala Polymorphism rs6951185 - PRKRIP1 Q9H875 VAR_039883 p.Asp106Tyr Polymorphism rs11556160 - PRKX P51817 VAR_061744 p.Val43Ala Polymorphism rs3752362 - PRLHR P49683 VAR_023948 p.Ile283Val Polymorphism rs1613448 - PRLHR P49683 VAR_029746 p.Asp302Gly Polymorphism rs8192523 - PRLR P16471 VAR_049172 p.Ile100Val Polymorphism rs2228482 - PRM3 Q9NNZ6 VAR_034414 p.Gln100Arg Polymorphism rs429744 - PRMT10 Q6P2P2 VAR_039954 p.Ser483Gly Polymorphism rs17023638 - PRMT10 Q6P2P2 VAR_039955 p.Cys747Tyr Polymorphism rs11557361 - PRMT1 Q99873 VAR_037501 p.Lys78Met Polymorphism rs1804486 - PRMT1 Q99873 VAR_037502 p.Leu158Phe Polymorphism rs11673683 - PRMT3 O60678 VAR_024584 p.Leu440Val Polymorphism rs3758805 - PRMT3 O60678 VAR_024585 p.Ser508Asn Polymorphism rs6483700 - PRMT3 O60678 VAR_030943 p.Ser470Cys Polymorphism rs11025585 - PRMT6 Q96LA8 VAR_057150 p.Ala194Val Polymorphism rs2232016 - PRND Q9UKY0 VAR_013765 p.Thr26Pro Polymorphism - - PRND Q9UKY0 VAR_013766 p.Pro56Leu Polymorphism rs35453518 - PRND Q9UKY0 VAR_013767 p.Thr174Met Polymorphism rs2245220 - PRND Q9UKY0 VAR_013769 p.Ser6Ile Polymorphism - - PRND Q9UKY0 VAR_013770 p.Ser22Pro Polymorphism - - PRND Q9UKY0 VAR_013771 p.His31Arg Polymorphism - - PRND Q9UKY0 VAR_013772 p.Phe70Leu Polymorphism - - PRND Q9UKY0 VAR_013773 p.Leu149Ser Polymorphism - - PRNP P04156 VAR_006464 p.Pro102Leu Disease - Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_006465 p.Pro105Leu Disease - Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_006466 p.Ala117Val Unclassified - - PRNP P04156 VAR_006467 p.Met129Val Polymorphism rs1799990 - PRNP P04156 VAR_006468 p.Asn171Ser Polymorphism rs16990018 - PRNP P04156 VAR_006469 p.Asp178Asn Disease - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006469 p.Asp178Asn Disease - Fatal familial insomnia (FFI) [MIM:600072] PRNP P04156 VAR_006469 p.Asp178Asn Disease - High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) PRNP P04156 VAR_006470 p.Val180Ile Disease - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006470 p.Val180Ile Disease - High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) PRNP P04156 VAR_006471 p.Thr183Ala Unclassified - - PRNP P04156 VAR_006472 p.Phe198Ser Disease - Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_006473 p.Glu200Lys Disease - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006473 p.Glu200Lys Disease - High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) PRNP P04156 VAR_006474 p.Arg208His Disease - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006474 p.Arg208His Disease - High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) PRNP P04156 VAR_006475 p.Val210Ile Disease - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006475 p.Val210Ile Disease - High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) PRNP P04156 VAR_006476 p.Gln217Arg Disease - Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_006477 p.Glu219Lys Polymorphism rs1800014 - PRNP P04156 VAR_006478 p.Met232Arg Disease - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_006478 p.Met232Arg Disease - High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) PRNP P04156 VAR_008746 p.His187Arg Disease - Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_008747 p.Thr188Arg Polymorphism - - PRNP P04156 VAR_008748 p.Thr188Lys Unclassified - - PRNP P04156 VAR_008749 p.Glu196Lys Disease - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_008749 p.Glu196Lys Disease - High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) PRNP P04156 VAR_008750 p.Asp202Asn Disease - Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_008751 p.Val203Ile Disease - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_008751 p.Val203Ile Disease - High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) PRNP P04156 VAR_008752 p.Glu211Gln Disease - Creutzfeldt-Jakob disease (CJD) [MIM:123400] PRNP P04156 VAR_008752 p.Glu211Gln Disease - High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) PRNP P04156 VAR_008753 p.Gln212Pro Disease - Gerstmann-Straussler disease (GSD) [MIM:137440] PRNP P04156 VAR_008754 p.Pro238Ser Polymorphism - - PRNP P04156 VAR_014264 p.Gly131Val Disease - Gerstmann-Straussler disease (GSD) [MIM:137440] PRNT Q86SH4 VAR_039151 p.Thr50Ser Polymorphism rs7270737 - PROCA1 Q8NCQ7 VAR_043476 p.Asp245Ala Polymorphism rs1077127 - PROCA1 Q8NCQ7 VAR_043477 p.Glu320Lys Polymorphism rs3744637 - PROC P04070 VAR_006634 p.Trp14Gly Unclassified - - PROC P04070 VAR_006635 p.Arg32Cys Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006636 p.Arg38Trp Unclassified - - PROC P04070 VAR_006637 p.Arg42His Unclassified - - PROC P04070 VAR_006638 p.Arg42Cys Unclassified - - PROC P04070 VAR_006639 p.Ala43Thr Polymorphism - - PROC P04070 VAR_006640 p.Glu49Asp Unclassified - - PROC P04070 VAR_006641 p.Arg51Cys Unclassified - - PROC P04070 VAR_006642 p.Arg57Trp Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006643 p.Arg57Gly Unclassified - - PROC P04070 VAR_006644 p.Arg57Gln Unclassified - - PROC P04070 VAR_006645 p.Glu62Ala Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006646 p.Val76Met Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006647 p.Gly89Cys Unclassified - - PROC P04070 VAR_006648 p.His108Asn Unclassified - - PROC P04070 VAR_006649 p.Gly109Arg Unclassified - - PROC P04070 VAR_006651 p.Gly114Arg Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006652 p.Phe118Leu Unclassified - - PROC P04070 VAR_006656 p.Gly145Arg Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006657 p.Cys147Tyr Unclassified - - PROC P04070 VAR_006658 p.His149Pro Unclassified - - PROC P04070 VAR_006659 p.Ser161Arg Unclassified - - PROC P04070 VAR_006660 p.Ala178Pro Disease - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006661 p.Cys183Arg Unclassified - - PROC P04070 VAR_006662 p.Arg189Trp Unclassified - - PROC P04070 VAR_006663 p.Arg194Cys Unclassified - - PROC P04070 VAR_006664 p.Pro210Leu Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006665 p.Arg211Trp Disease rs28933986 Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006666 p.Arg211Gln Polymorphism rs28933987 - PROC P04070 VAR_006667 p.Arg220Pro Unclassified - - PROC P04070 VAR_006668 p.Arg220Trp Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006669 p.Arg220Gln Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006670 p.Gln226His Unclassified - - PROC P04070 VAR_006671 p.Ile243Thr Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006672 p.His244Tyr Unclassified - - PROC P04070 VAR_006673 p.His253Gln Unclassified - - PROC P04070 VAR_006674 p.Leu265Phe Unclassified - - PROC P04070 VAR_006675 p.Arg271Gln Unclassified - - PROC P04070 VAR_006676 p.Arg271Trp Unclassified - - PROC P04070 VAR_006677 p.Arg272Cys Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006679 p.Pro289Leu Disease - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006680 p.Ser294Asn Unclassified - - PROC P04070 VAR_006681 p.Asn298Asp Unclassified - - PROC P04070 VAR_006682 p.Ala301Thr Unclassified - - PROC P04070 VAR_006683 p.Ala301Val Unclassified - - PROC P04070 VAR_006684 p.Ala309Thr Unclassified - - PROC P04070 VAR_006685 p.Ser312Leu Unclassified - - PROC P04070 VAR_006686 p.Ser312Pro Unclassified - - PROC P04070 VAR_006687 p.Pro321Leu Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006688 p.Gly324Arg Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006689 p.Arg328Cys Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006690 p.Arg328His Disease - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006691 p.Gly334Ser Disease - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006692 p.Thr340Met Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006693 p.Gly343Asp Unclassified - - PROC P04070 VAR_006695 p.Val367Ala Disease - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006696 p.Pro369Leu Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006697 p.Met385Ile Unclassified - - PROC P04070 VAR_006698 p.Ala388Thr Unclassified - - PROC P04070 VAR_006699 p.Ala388Val Unclassified - - PROC P04070 VAR_006700 p.Gly392Arg Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006701 p.Arg394Trp Unclassified - - PROC P04070 VAR_006702 p.Asp401Asn Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006703 p.Gly418Asp Disease - Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC P04070 VAR_006704 p.Gly423Ser Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006705 p.Cys426Tyr Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006706 p.Gly433Ser Unclassified - - PROC P04070 VAR_006707 p.Thr436Asn Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006708 p.Tyr441His Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006709 p.Trp444Cys Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC P04070 VAR_006710 p.Ile445Met Unclassified - - PROC P04070 VAR_055074 p.Arg42Ser Disease - Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROCR Q9UNN8 VAR_012282 p.Ser219Gly Polymorphism rs867186 - PRODH2 Q9UF12 VAR_036852 p.Pro91Arg Polymorphism rs3848666 - PRODH2 Q9UF12 VAR_036853 p.Arg525Gln Polymorphism rs3761097 - PRODH O43272 VAR_029563 p.Ala167Val Unclassified - - PRODH O43272 VAR_029564 p.Arg185Gln Unclassified - - PRODH O43272 VAR_029565 p.Arg185Trp Polymorphism rs4819756 - PRODH O43272 VAR_029566 p.Leu289Met Unclassified - - PRODH O43272 VAR_029567 p.Pro406Leu Polymorphism rs3970555 - PRODH O43272 VAR_029568 p.Asp426Asn Unclassified - - PRODH O43272 VAR_029569 p.Val427Met Polymorphism rs2238731 - PRODH O43272 VAR_029570 p.Arg431His Polymorphism rs2904552 - PRODH O43272 VAR_029571 p.Leu441Pro Disease rs2904551 Hyperprolinemia type 1 (HP-1) [MIM:239500] PRODH O43272 VAR_029572 p.Arg453Cys Polymorphism rs3970559 - PRODH O43272 VAR_029573 p.Ala455Ser Polymorphism rs1807467 - PRODH O43272 VAR_029574 p.Thr466Met Polymorphism rs2870984 - PRODH O43272 VAR_029575 p.Ala472Thr Polymorphism rs2870983 - PRODH O43272 VAR_029576 p.Gln521Glu Unclassified - - PRODH O43272 VAR_029577 p.Gln521Arg Polymorphism rs450046 - PRODH O43272 VAR_029874 p.Thr275Asn Polymorphism - - PRODH O43272 VAR_029875 p.Gly444Asp Polymorphism - - PRODH O43272 VAR_036566 p.Asn488Ser Unclassified - A breast cancer sample PRODH O43272 VAR_064883 p.Pro8Leu Polymorphism - - PRODH O43272 VAR_064884 p.Gln19Pro Polymorphism rs2008720 - PRODH O43272 VAR_064885 p.Pro30Ser Polymorphism - - PRODH O43272 VAR_064886 p.Ala58Thr Polymorphism - - PROK1 P58294 VAR_053610 p.Val67Ile Polymorphism rs7514102 - PROK2 Q9HC23 VAR_030955 p.Gly32Arg Disease - Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] PROK2 Q9HC23 VAR_030956 p.Arg73Cys Disease - Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] PROKR1 Q8TCW9 VAR_024261 p.Ser40Gly Polymorphism rs7570797 - PROKR2 Q8NFJ6 VAR_030957 p.Arg85Cys Polymorphism - - PROKR2 Q8NFJ6 VAR_030958 p.Arg85His Disease - Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030959 p.Arg164Gln Disease - Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030960 p.Leu173Arg Disease - Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030961 p.Trp178Ser Disease - Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030962 p.Gln210Arg Disease - Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030963 p.Arg268Cys Polymorphism - - PROKR2 Q8NFJ6 VAR_030964 p.Pro290Ser Disease - Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030965 p.Met323Ile Disease - Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] PROKR2 Q8NFJ6 VAR_030966 p.Val331Met Polymorphism - - PROKR2 Q8NFJ6 VAR_030967 p.Thr335Met Polymorphism - - PROM1 O43490 VAR_010382 p.Ala31Gly Polymorphism - - PROM1 O43490 VAR_010383 p.Ala31Ser Polymorphism - - PROM1 O43490 VAR_057961 p.Arg373Cys Disease - Cone-rod dystrophy type 12 (CORD12) [MIM:612657] PROM1 O43490 VAR_057961 p.Arg373Cys Disease - Retinal macular dystrophy type 2 (MCDR2) [MIM:608051] PROM1 O43490 VAR_057961 p.Arg373Cys Disease - Stargardt disease type 4 (STGD4) [MIM:603786] PROM2 Q8N271 VAR_042749 p.Gln508Arg Polymorphism rs12992066 - PROP1 O75360 VAR_003768 p.Arg73Cys Disease - Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_003769 p.Phe117Ile Disease - Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_003770 p.Arg120Cys Disease - Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_012746 p.Arg73His Disease - Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_014531 p.Ala142Thr Polymorphism rs1800197 - PROP1 O75360 VAR_054972 p.Asn20Ser Polymorphism rs7445271 - PROP1 O75360 VAR_054973 p.Arg125Trp Disease - Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_063235 p.Phe88Ser Disease - Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] PROP1 O75360 VAR_063236 p.Arg99Gln Disease - Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] PROS1 P07225 VAR_005566 p.Lys196Glu Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_005567 p.Asn258Ser Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_005568 p.Ser501Pro Unclassified - - PROS1 P07225 VAR_014116 p.Gly482Cys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_014117 p.Tyr485Cys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_014118 p.Ile559Met Polymorphism - - PROS1 P07225 VAR_014119 p.Arg561Gly Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_014666 p.Thr78Met Disease rs6122 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_035981 p.Glu545Gly Unclassified - A colorectal cancer sample PROS1 P07225 VAR_046802 p.Leu15His Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046803 p.Val18Glu Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046804 p.Arg40Leu Disease rs7614835 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046805 p.Arg41His Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046806 p.Lys50Glu Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046807 p.Gly52Asp Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046808 p.Glu67Ala Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046809 p.Ala68Asp Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046810 p.Phe72Cys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046811 p.Pro76Leu Polymorphism - - PROS1 P07225 VAR_046812 p.Val87Leu Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046813 p.Cys88Tyr Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046814 p.Arg90Cys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046815 p.Arg90His Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046816 p.Gly95Glu Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046817 p.Gly95Arg Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046818 p.Thr98Ser Polymorphism - - PROS1 P07225 VAR_046819 p.Arg101Cys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046820 p.Arg111Ser Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046821 p.Cys121Tyr Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046822 p.Asp129Gly Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046823 p.Thr144Asn Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046824 p.Trp149Cys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046825 p.Asp157Gly Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046826 p.Cys161Gly Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046827 p.Asn166Tyr Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046828 p.Asn168Ser Polymorphism - - PROS1 P07225 VAR_046829 p.Cys175Phe Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046830 p.Cys186Tyr Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046831 p.Glu204Gly Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046832 p.Arg233Lys Disease rs41267007 Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046833 p.Cys241Ser Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046834 p.Asp243Asn Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046835 p.Asp245Gly Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046836 p.Cys247Gly Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046837 p.Glu249Lys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046838 p.Cys265Arg Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046839 p.Cys265Trp Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046840 p.Tyr266Cys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046841 p.Cys267Ser Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046842 p.Leu300Pro Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046843 p.Ser324Pro Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046844 p.Gly336Asp Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046845 p.Gly336Ser Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046846 p.Gly336Val Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046847 p.Leu339Pro Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046848 p.Leu351Pro Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046849 p.Arg355His Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046850 p.Gly357Arg Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046851 p.Lys364Glu Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046852 p.Asp376Asn Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046853 p.Gly381Asp Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046854 p.Gly381Val Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046855 p.Trp383Arg Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046856 p.Met385Val Polymorphism - - PROS1 P07225 VAR_046857 p.Glu390Lys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046858 p.Leu446Pro Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046859 p.Cys449Ser Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046860 p.Cys475Arg Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046861 p.Ile495Val Polymorphism rs5017712 - PROS1 P07225 VAR_046862 p.Ser501Ala Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046863 p.Val508Gly Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046864 p.Val508Met Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046865 p.Arg515Cys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046866 p.Arg515Pro Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046867 p.Gly521Asp Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046868 p.Ala525Pro Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046869 p.Leu526Ser Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046870 p.Thr532Ala Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046871 p.Leu552Ser Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046872 p.Ile562Leu Unclassified - - PROS1 P07225 VAR_046873 p.Cys568Tyr Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046874 p.Leu575Arg Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046875 p.Asn583His Polymorphism - - PROS1 P07225 VAR_046876 p.Leu584Gln Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046877 p.Met611Lys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046878 p.Met611Thr Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046879 p.Ala616Pro Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046880 p.Leu622Arg Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046881 p.Thr630Ile Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046882 p.Tyr636Cys Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046883 p.Gly638Asp Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046884 p.Cys639Phe Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046885 p.Cys639Tyr Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046886 p.Met640Thr Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046887 p.Ile644Ser Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046888 p.His664Pro Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046889 p.Ser665Leu Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046890 p.Cys666Arg Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROS1 P07225 VAR_046891 p.Pro667Leu Disease - Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] PROSC O94903 VAR_052476 p.Val24Met Polymorphism rs35423325 - PROSER1 Q86XN7 VAR_030253 p.Val571Ala Polymorphism rs3751379 - PROSER1 Q86XN7 VAR_030254 p.Ser847Thr Polymorphism rs17058955 - PROSER2 Q86WR7 VAR_023097 p.Ala412Val Polymorphism rs12253554 - PROX1 Q92786 VAR_049362 p.His584Arg Polymorphism rs12121210 - PROZ P22891 VAR_013124 p.Glu70Lys Polymorphism rs3024778 - PROZ P22891 VAR_013125 p.Arg295His Polymorphism rs3024772 - PRPF31 Q8WWY3 VAR_025630 p.Ala194Glu Disease - Retinitis pigmentosa type 11 (RP11) [MIM:600138] PRPF31 Q8WWY3 VAR_025631 p.Ala216Pro Disease - Retinitis pigmentosa type 11 (RP11) [MIM:600138] PRPF3 O43395 VAR_016877 p.Thr494Met Disease - Retinitis pigmentosa type 18 (RP18) [MIM:601414] PRPF3 O43395 VAR_046735 p.Pro493Ser Disease - Retinitis pigmentosa type 18 (RP18) [MIM:601414] PRPF3 O43395 VAR_051286 p.Lys12Asn Polymorphism rs12736964 - PRPF4B Q13523 VAR_035633 p.Phe658Leu Unclassified - A breast cancer sample PRPF4B Q13523 VAR_046969 p.Ile83Val Polymorphism rs9503893 - PRPF4B Q13523 VAR_047798 p.Ile584Val Polymorphism - - PRPF8 Q6P2Q9 VAR_022622 p.Lys68Glu Polymorphism rs1043391 - PRPF8 Q6P2Q9 VAR_022623 p.Arg227His Polymorphism rs11559304 - PRPF8 Q6P2Q9 VAR_022624 p.Pro874Leu Polymorphism rs1043396 - PRPF8 Q6P2Q9 VAR_022625 p.Asn1293His Polymorphism rs1043399 - PRPF8 Q6P2Q9 VAR_022626 p.Pro2301Thr Disease - Retinitis pigmentosa type 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022627 p.Phe2304Leu Disease - Retinitis pigmentosa type 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022628 p.His2309Pro Disease - Retinitis pigmentosa type 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022629 p.His2309Arg Disease - Retinitis pigmentosa type 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022630 p.Arg2310Gly Disease - Retinitis pigmentosa type 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022631 p.Arg2310Lys Disease - Retinitis pigmentosa type 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022632 p.Phe2314Leu Disease - Retinitis pigmentosa type 13 (RP13) [MIM:600059] PRPF8 Q6P2Q9 VAR_022633 p.Tyr2334Asn Disease - Retinitis pigmentosa type 13 (RP13) [MIM:600059] PRPH2 P23942 VAR_006853 p.Arg13Trp Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006854 p.Ile32Val Unclassified - - PRPH2 P23942 VAR_006855 p.Leu45Phe Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006857 p.Gly68Arg Disease - Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] PRPH2 P23942 VAR_006859 p.Leu126Arg Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006860 p.Arg142Trp Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006861 p.Lys153Arg Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006863 p.Asp157Asn Disease - Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] PRPH2 P23942 VAR_006864 p.Cys165Tyr Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006865 p.Gly167Asp Disease - Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] PRPH2 P23942 VAR_006866 p.Arg172Gly Disease - Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] PRPH2 P23942 VAR_006867 p.Arg172Gln Unclassified - - PRPH2 P23942 VAR_006868 p.Arg172Trp Unclassified - - PRPH2 P23942 VAR_006869 p.Asp173Val Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006870 p.Tyr184Ser Unclassified - - PRPH2 P23942 VAR_006871 p.Leu185Pro Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006873 p.Gly208Asp Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006874 p.Pro210Arg Disease - Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] PRPH2 P23942 VAR_006874 p.Pro210Arg Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006875 p.Pro210Ser Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006876 p.Phe211Leu Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006877 p.Ser212Gly Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006878 p.Ser212Thr Disease - Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] PRPH2 P23942 VAR_006879 p.Cys213Arg Disease - Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] PRPH2 P23942 VAR_006880 p.Cys214Ser Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006881 p.Pro216Leu Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006882 p.Pro216Ser Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006883 p.Pro219Arg Unclassified - - PRPH2 P23942 VAR_006885 p.Arg220Gln Disease - Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] PRPH2 P23942 VAR_006886 p.Arg220Trp Disease - Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] PRPH2 P23942 VAR_006887 p.Asn244Lys Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006888 p.Asn244His Unclassified - - PRPH2 P23942 VAR_006889 p.Gly266Asp Disease - Retinitis pigmentosa type 7 (RP7) [MIM:608133] PRPH2 P23942 VAR_006890 p.Val268Ile Disease - Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] PRPH2 P23942 VAR_006891 p.Glu304Gln Polymorphism rs390659 - PRPH2 P23942 VAR_006892 p.Gly305Asp Disease - Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] PRPH2 P23942 VAR_006893 p.Lys310Arg Polymorphism rs425876 - PRPH2 P23942 VAR_006894 p.Pro313Leu Polymorphism - - PRPH2 P23942 VAR_006895 p.Gly338Asp Polymorphism rs434102 - PRPH2 P23942 VAR_032052 p.Gly167Ser Disease - Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] PRPH2 P23942 VAR_032054 p.Arg195Leu Disease - Choroidal dystrophy central areolar type 2 (CACD2) [MIM:613105] PRPS1L1 P21108 VAR_050062 p.Glu279Asp Polymorphism rs3800962 - PRPS1 P60891 VAR_004163 p.Asn114Ser Disease - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_004164 p.Asp183His Disease - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_016044 p.Asp52His Disease - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_016045 p.Leu129Ile Disease - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_016046 p.Ala190Val Disease - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_016047 p.His193Gln Disease - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1 P60891 VAR_036593 p.Asp203His Unclassified - A breast cancer sample PRPS1 P60891 VAR_036594 p.Val219Gly Unclassified - A breast cancer sample PRPS1 P60891 VAR_036595 p.His231Asp Unclassified - A colorectal cancer sample PRPS1 P60891 VAR_036941 p.Glu43Asp Disease - Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070] PRPS1 P60891 VAR_036942 p.Met115Thr Disease - Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070] PRPS1 P60891 VAR_036943 p.Gln133Pro Disease - ARTS syndrome (ARTS) [MIM:301835] PRPS1 P60891 VAR_036944 p.Leu152Pro Disease - ARTS syndrome (ARTS) [MIM:301835] PRPS1 P60891 VAR_063522 p.Asp65Asn Disease - Deafness X-linked type 1 (DFNX1) [MIM:304500] PRPS1 P60891 VAR_063523 p.Ala87Thr Disease - Deafness X-linked type 1 (DFNX1) [MIM:304500] PRPS1 P60891 VAR_063524 p.Ile290Thr Disease - Deafness X-linked type 1 (DFNX1) [MIM:304500] PRPS1 P60891 VAR_063525 p.Gly306Arg Disease - Deafness X-linked type 1 (DFNX1) [MIM:304500] PRR14L Q5THK1 VAR_059641 p.Asn455Ser Polymorphism rs140081 - PRR14L Q5THK1 VAR_059642 p.Leu740Pro Polymorphism rs140080 - PRR14L Q5THK1 VAR_059643 p.Met876Ile Polymorphism rs17821493 - PRR14L Q5THK1 VAR_059644 p.Thr961Ile Polymorphism rs140079 - PRR14L Q5THK1 VAR_059645 p.Asp963Asn Polymorphism rs9619227 - PRR14L Q5THK1 VAR_059646 p.Ser1151Pro Polymorphism rs12159328 - PRR14L Q5THK1 VAR_059647 p.Ser1221Leu Polymorphism rs140078 - PRR14L Q5THK1 VAR_059648 p.Leu1395Phe Polymorphism rs3804090 - PRR14L Q5THK1 VAR_059649 p.Val1784Ile Polymorphism rs16989427 - PRR14L Q5THK1 VAR_061637 p.Glu1316Lys Polymorphism rs61461793 - PRR14 Q9BWN1 VAR_035389 p.Pro359Leu Polymorphism rs3747481 - PRR15 Q8IV56 VAR_059710 p.Pro115Ser Polymorphism rs10271996 - PRR16 Q569H4 VAR_061694 p.Pro110Thr Polymorphism rs17853861 - PRR18 Q8N4B5 VAR_036642 p.Cys136Ser Polymorphism rs7757150 - PRR21 Q8WXC7 VAR_046194 p.Gly58Ser Polymorphism rs10439373 - PRR21 Q8WXC7 VAR_046195 p.Lys342Met Polymorphism rs6732185 - PRR21 Q8WXC7 VAR_046196 p.Ser380Ala Polymorphism rs6728493 - PRR22 Q8IZ63 VAR_042962 p.Pro118Leu Polymorphism rs3745640 - PRR25 Q96S07 VAR_063210 p.Thr92Ser Polymorphism rs1005190 - PRR25 Q96S07 VAR_063211 p.Pro249Leu Polymorphism rs13337837 - PRR3 P79522 VAR_052963 p.Gly61Ser Polymorphism rs3888778 - PRR4 Q16378 VAR_027926 p.Arg96Gln Polymorphism rs1063193 - PRR4 Q16378 VAR_027927 p.Gln120Arg Polymorphism rs1047699 - PRR5L Q6MZQ0 VAR_043006 p.Ala41Thr Polymorphism rs330261 - PRR5L Q6MZQ0 VAR_043007 p.Pro330Ser Polymorphism rs11033639 - PRR5 P85299 VAR_062230 p.Val243Met Polymorphism rs36082900 - PRR7 Q8TB68 VAR_042437 p.Pro127His Polymorphism rs17851889 - PRRC2A P48634 VAR_023215 p.Pro57Arg Polymorphism rs1062968 - PRRC2A P48634 VAR_023216 p.Pro106Leu Polymorphism rs2280801 - PRRC2A P48634 VAR_023217 p.Thr544Lys Polymorphism rs1046080 - PRRC2A P48634 VAR_023218 p.Gln694Lys Polymorphism rs2844469 - PRRC2A P48634 VAR_023219 p.Asp742Glu Polymorphism rs1046081 - PRRC2A P48634 VAR_023220 p.Gly1285Ala Polymorphism rs2736158 - PRRC2A P48634 VAR_023221 p.Gly1415Ala Polymorphism rs2857703 - PRRC2A P48634 VAR_023222 p.Leu1503Pro Polymorphism rs2272593 - PRRC2A P48634 VAR_023223 p.Arg1740His Polymorphism rs1046089 - PRRC2A P48634 VAR_023224 p.Gly1744Ala Polymorphism rs2844491 - PRRC2A P48634 VAR_023225 p.Val1775Met Polymorphism rs11538264 - PRRC2A P48634 VAR_023226 p.Leu1895Val Polymorphism rs3132453 - PRRC2A P48634 VAR_023227 p.Pro2006Ser Polymorphism rs10885 - PRRC2A P48634 VAR_023228 p.Pro2130Leu Polymorphism rs1046756 - PRRC2A P48634 VAR_035796 p.Thr1087Ile Unclassified - A breast cancer sample PRRC2A P48634 VAR_035797 p.Arg1152His Unclassified - A breast cancer sample PRRC2A P48634 VAR_045992 p.Asp82Val Polymorphism rs6921213 - PRRC2A P48634 VAR_045993 p.Arg477Cys Polymorphism rs17857493 - PRRC2A P48634 VAR_045994 p.Arg804Cys Polymorphism rs11538262 - PRRC2A P48634 VAR_045995 p.Ser1407Asn Polymorphism rs35464047 - PRRC2A P48634 VAR_045996 p.Gly1544Asp Polymorphism rs34175432 - PRRC2A P48634 VAR_045997 p.Arg1563Gln Polymorphism rs11538263 - PRRC2A P48634 VAR_045998 p.Val1774Met Polymorphism rs11538264 - PRRC2A P48634 VAR_056742 p.Arg2075Trp Polymorphism rs34137317 - PRRC2B Q5JSZ5 VAR_030289 p.Ser1630Thr Polymorphism rs10736851 - PRRC2B Q5JSZ5 VAR_030290 p.Leu1675Pro Polymorphism rs10751478 - PRRC2B Q5JSZ5 VAR_057735 p.Met417Val Polymorphism rs34553878 - PRRC2C Q9Y520 VAR_046290 p.Ala235Thr Polymorphism rs10913157 - PRRC2C Q9Y520 VAR_046291 p.Asn343Lys Polymorphism rs36013361 - PRRC2C Q9Y520 VAR_046292 p.Glu468Gly Polymorphism rs704839 - PRRC2C Q9Y520 VAR_046293 p.Ala906Thr Polymorphism rs760644 - PRRC2C Q9Y520 VAR_046294 p.Pro959Ser Polymorphism rs34269512 - PRRC2C Q9Y520 VAR_046295 p.Ser1624Cys Polymorphism rs235468 - PRRC2C Q9Y520 VAR_046296 p.Pro1771Ser Polymorphism rs1687056 - PRRC2C Q9Y520 VAR_046297 p.Leu1868Arg Polymorphism rs3820169 - PRRC2C Q9Y520 VAR_046298 p.Ala1885Thr Polymorphism rs12025905 - PRRC2C Q9Y520 VAR_046299 p.Pro1924Arg Polymorphism rs183523 - PRRC2C Q9Y520 VAR_059584 p.Thr2717Ala Polymorphism rs2421847 - PRRG1 O14668 VAR_036268 p.Phe60Ile Unclassified - A breast cancer sample PRRG2 O14669 VAR_020332 p.Gly116Cys Polymorphism rs2288920 - PRRG2 O14669 VAR_051442 p.Pro22Ser Polymorphism rs35016366 - PRRG3 Q9BZD7 VAR_046712 p.Asn153Ser Polymorphism rs4323608 - PRRG4 Q9BZD6 VAR_051443 p.Glu33Lys Polymorphism rs33962176 - PRRG4 Q9BZD6 VAR_051444 p.Cys143Arg Polymorphism rs34736080 - PRRG4 Q9BZD6 VAR_051445 p.Pro176Gln Polymorphism rs34139105 - PRRT1 Q99946 VAR_036212 p.Ala94Thr Unclassified - A breast cancer sample PRRT3 Q5FWE3 VAR_027745 p.Gln138Glu Polymorphism rs279601 - PRRT3 Q5FWE3 VAR_027746 p.Leu860Ile Polymorphism rs2279794 - PRRT3 Q5FWE3 VAR_061695 p.Ser213Pro Polymorphism rs55847610 - PRRT3 Q5FWE3 VAR_061696 p.Leu233Phe Polymorphism rs55847233 - PRRT3 Q5FWE3 VAR_061697 p.Arg334Gly Polymorphism rs59465469 - PRSS12 P56730 VAR_051835 p.Ala606Ser Polymorphism rs28661939 - PRSS12 P56730 VAR_051836 p.Arg833Gln Polymorphism rs17594503 - PRSS16 Q9NQE7 VAR_051826 p.Ser104Ile Polymorphism rs5030965 - PRSS16 Q9NQE7 VAR_051827 p.Ala204Gly Polymorphism rs35466700 - PRSS1 P07477 VAR_006720 p.Asn29Ile Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_006721 p.Arg122His Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_011652 p.Asp22Gly Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_011653 p.Lys23Arg Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_011654 p.Leu104Pro Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_011655 p.Arg116Cys Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_011656 p.Cys139Phe Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_011693 p.Ala16Val Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_012712 p.Asn29Thr Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_012713 p.Arg122Cys Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_036299 p.Thr137Met Unclassified - A colorectal cancer sample PRSS1 P07477 VAR_037908 p.Asn54Ser Disease - Pancreatitis (PCTT) [MIM:167800] PRSS1 P07477 VAR_037909 p.Glu79Lys Disease rs28934902 Pancreatitis (PCTT) [MIM:167800] PRSS21 Q9Y6M0 VAR_051840 p.Arg264Gln Polymorphism rs2072273 - PRSS2 P07478 VAR_051858 p.Ala117Val Polymorphism rs11547028 - PRSS35 Q8N3Z0 VAR_034810 p.Arg224Gln Polymorphism rs504593 - PRSS37 A4D1T9 VAR_039985 p.Thr119Pro Polymorphism rs12669721 - PRSS38 A1L453 VAR_042531 p.Met204Val Polymorphism rs9426581 - PRSS3 P35030 VAR_046794 p.Thr188Ala Polymorphism rs855581 - PRSS3 P35030 VAR_046795 p.Tyr232Cys Polymorphism rs1048379 - PRSS3 P35030 VAR_059788 p.Thr224Ser Polymorphism rs1063273 - PRSS41 Q7RTY9 VAR_064369 p.Ser286Gly Polymorphism - - PRSS48 Q7RTY5 VAR_042920 p.Cys53Tyr Polymorphism rs36097019 - PRSS48 Q7RTY5 VAR_042921 p.Leu118Ser Polymorphism rs17027505 - PRSS48 Q7RTY5 VAR_042922 p.Arg290Cys Polymorphism rs13126069 - PRSS50 Q9UI38 VAR_051859 p.Gln75Pro Polymorphism rs34788938 - PRSS50 Q9UI38 VAR_051860 p.Val98Ile Polymorphism rs35866901 - PRSS54 Q6PEW0 VAR_032497 p.Ser182Gly Polymorphism rs3815803 - PRSS54 Q6PEW0 VAR_032498 p.Val240Ile Polymorphism rs1052276 - PRSS54 Q6PEW0 VAR_032499 p.Thr295Ala Polymorphism rs2241414 - PRSS55 Q6UWB4 VAR_042525 p.Pro44Arg Polymorphism rs4521726 - PRSS55 Q6UWB4 VAR_042526 p.Ala212Val Polymorphism rs4406360 - PRSS56 P0CW18 VAR_065076 p.Arg176Gly Disease - Microphthalmia isolated type 6 (MCOP6) [MIM:613517] PRSS56 P0CW18 VAR_065077 p.Trp309Ser Disease - Microphthalmia isolated type 6 (MCOP6) [MIM:613517] PRSS57 Q6UWY2 VAR_051839 p.Pro143Leu Polymorphism rs8102982 - PRTG Q2VWP7 VAR_038467 p.Ile1062Leu Polymorphism rs1438914 - PRTG Q2VWP7 VAR_049916 p.Thr236Ala Polymorphism rs16976466 - PRTG Q2VWP7 VAR_049917 p.Val826Leu Polymorphism rs10518816 - PRTN3 P24158 VAR_011691 p.Val119Ile Polymorphism rs351111 - PRTN3 P24158 VAR_011713 p.Ala135Thr Polymorphism rs1042281 - PRTN3 P24158 VAR_011714 p.Thr136Ser Polymorphism rs1042282 - PRUNE Q86TP1 VAR_043728 p.Gly397Ser Polymorphism rs3738477 - PRUNE Q86TP1 VAR_059559 p.Gly397Arg Polymorphism rs3738477 - PRX Q9BXM0 VAR_013056 p.Ala406Thr Polymorphism - - PRX Q9BXM0 VAR_013057 p.Glu495Gln Polymorphism - - PRX Q9BXM0 VAR_013058 p.Val882Ala Polymorphism rs268671 - PRX Q9BXM0 VAR_013059 p.Ile921Met Polymorphism rs268673 - PRX Q9BXM0 VAR_013060 p.Lys935Glu Polymorphism - - PRX Q9BXM0 VAR_013061 p.Pro1083Arg Polymorphism rs3745202 - PRX Q9BXM0 VAR_013062 p.Gly1132Arg Polymorphism rs268674 - PRX Q9BXM0 VAR_013063 p.Glu1259Lys Polymorphism - - PRX Q9BXM0 VAR_013065 p.Arg1411Cys Polymorphism - - PSAPL1 Q6NUJ1 VAR_051895 p.Ala268Ser Polymorphism rs3796905 - PSAPL1 Q6NUJ1 VAR_051896 p.Val296Met Polymorphism rs6850206 - PSAPL1 Q6NUJ1 VAR_061780 p.Ala41Ser Polymorphism rs11548325 - PSAPL1 Q6NUJ1 VAR_061781 p.Gly44Arg Polymorphism rs58482081 - PSAPL1 Q6NUJ1 VAR_061782 p.Ala59Thr Polymorphism rs56737582 - PSAP P07602 VAR_006943 p.Thr217Ile Disease - Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] PSAP P07602 VAR_006944 p.Cys241Ser Disease rs1130793 Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] PSAP P07602 VAR_006945 p.Cys388Phe Disease - Atypical Gaucher disease (AGD) [MIM:610539] PSAP P07602 VAR_031823 p.Asn215His Disease - Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] PSAP P07602 VAR_031899 p.Asn215Lys Disease - Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] PSAP P07602 VAR_042441 p.Leu349Pro Disease - Atypical Gaucher disease (AGD) [MIM:610539] PSAT1 Q9Y617 VAR_037252 p.Asp100Ala Disease - Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992] PSAT1 Q9Y617 VAR_048235 p.Pro87Ala Polymorphism rs11540974 - PSCA O43653 VAR_020173 p.Glu39Lys Polymorphism rs3736001 - PSD2 Q9BQI7 VAR_043346 p.Arg31Gln Polymorphism rs34880693 - PSD2 Q9BQI7 VAR_043347 p.Arg51Met Polymorphism rs3797902 - PSD2 Q9BQI7 VAR_043348 p.Gly363Arg Polymorphism rs35714177 - PSD3 Q9NYI0 VAR_036947 p.Thr186Met Polymorphism rs7016219 - PSD3 Q9NYI0 VAR_036948 p.Thr186Pro Polymorphism rs7003060 - PSD3 Q9NYI0 VAR_036949 p.Pro293Leu Polymorphism rs13263453 - PSD4 Q8NDX1 VAR_027712 p.Gly269Ala Polymorphism rs4849167 - PSD4 Q8NDX1 VAR_051921 p.Gly83Arg Polymorphism rs1562277 - PSD4 Q8NDX1 VAR_051922 p.Ser233Pro Polymorphism rs12472091 - PSD4 Q8NDX1 VAR_051923 p.Arg637Gln Polymorphism rs45487591 - PSD4 Q8NDX1 VAR_051924 p.Ile658Val Polymorphism rs45574835 - PSEN1 P49768 VAR_006413 p.Ala79Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006414 p.Val82Leu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006415 p.Val96Phe Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006416 p.Tyr115Cys Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006417 p.Tyr115His Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006418 p.Glu120Asp Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006419 p.Glu120Lys Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006420 p.Met139Ile Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006421 p.Met139Thr Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006422 p.Met139Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006423 p.Ile143Phe Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006424 p.Ile143Thr Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006425 p.Met146Ile Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006426 p.Met146Leu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006427 p.Met146Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006428 p.His163Arg Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006429 p.His163Tyr Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006430 p.Ser169Leu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006431 p.Ser169Pro Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006432 p.Leu171Pro Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006433 p.Gly209Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006434 p.Ile213Thr Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006435 p.Ala231Thr Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006436 p.Ala231Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006437 p.Met233Thr Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006438 p.Leu235Pro Unclassified - - PSEN1 P49768 VAR_006439 p.Ala246Glu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006440 p.Leu250Ser Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006441 p.Ala260Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006442 p.Leu262Phe Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006443 p.Cys263Arg Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006444 p.Pro264Leu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006445 p.Pro267Ser Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006446 p.Pro267Thr Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006447 p.Arg269Gly Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006448 p.Arg269His Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006449 p.Arg278Thr Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006450 p.Glu280Ala Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006451 p.Glu280Gly Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006452 p.Ala285Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006453 p.Leu286Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006454 p.Glu318Gly Polymorphism rs17125721 - PSEN1 P49768 VAR_006455 p.Gly378Glu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006456 p.Gly384Ala Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006457 p.Leu392Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006458 p.Cys410Tyr Disease rs661 Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006459 p.Ala426Pro Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_006460 p.Pro436Gln Disease rs28930977 Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_008141 p.Pro436Ser Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009208 p.Phe105Leu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009209 p.Pro117Leu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009210 p.Gly209Arg Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009211 p.Met233Leu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009212 p.Leu282Arg Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_009213 p.Ala409Thr Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010120 p.Thr116Asn Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010121 p.Asn135Asp Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010122 p.Met139Lys Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010123 p.Thr147Ile Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010124 p.Trp165Cys Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010125 p.Leu173Trp Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010126 p.Leu219Pro Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010127 p.Ser289Cys Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010128 p.Ser390Ile Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_010129 p.Asn405Ser Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_011876 p.Phe205Leu Polymorphism rs1042864 - PSEN1 P49768 VAR_016214 p.Cys92Ser Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016215 p.Leu113Pro Disease - Frontotemporal dementia (FTD) [MIM:600274] PSEN1 P49768 VAR_016216 p.Leu166Pro Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016217 p.Leu174Met Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016218 p.Gly206Ala Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016219 p.Gly266Ser Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_016220 p.Leu271Val Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_025605 p.Ala431Glu Disease - Alzheimer disease type 3 (AD3) [MIM:607822] PSEN1 P49768 VAR_064747 p.Tyr315Cys Unclassified - - PSEN1 P49768 VAR_064902 p.Asp333Gly Disease - Cardiomyopathy dilated type 1U (CMD1U) [MIM:613694] PSEN2 P49810 VAR_006461 p.Arg62His Disease rs58973334 Alzheimer disease type 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_006462 p.Asn141Ile Disease - Alzheimer disease type 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_006463 p.Met239Val Disease rs28936379 Alzheimer disease type 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_007958 p.Val148Ile Disease - Alzheimer disease type 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_009214 p.Thr122Pro Disease - Alzheimer disease type 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_009215 p.Met239Ile Disease - Alzheimer disease type 4 (AD4) [MIM:606889] PSEN2 P49810 VAR_064903 p.Ser130Leu Disease - Cardiomyopathy dilated type 1V (CMD1V) [MIM:613697] PSG11 Q9UQ72 VAR_056076 p.Ala176Thr Polymorphism rs1058085 - PSG11 Q9UQ72 VAR_060365 p.Asn264Asp Polymorphism rs10414166 - PSG11 Q9UQ72 VAR_061325 p.Val83Ile Polymorphism rs2471952 - PSG11 Q9UQ72 VAR_061326 p.Glu310Lys Polymorphism rs10412348 - PSG1 P11464 VAR_056063 p.Glu41Gln Polymorphism rs707744 - PSG1 P11464 VAR_056064 p.Thr43Pro Polymorphism rs707745 - PSG1 P11464 VAR_056065 p.Glu47Lys Polymorphism rs1058956 - PSG1 P11464 VAR_056066 p.Thr63Ala Polymorphism rs1064479 - PSG1 P11464 VAR_056067 p.Arg73Lys Polymorphism rs1064480 - PSG1 P11464 VAR_056068 p.Glu87Gln Polymorphism rs1058661 - PSG1 P11464 VAR_056069 p.Ala101Val Polymorphism rs707748 - PSG1 P11464 VAR_056070 p.Val134Glu Polymorphism rs1058671 - PSG1 P11464 VAR_056071 p.Glu197Lys Polymorphism rs1058692 - PSG1 P11464 VAR_056072 p.Thr198Asn Polymorphism rs1058693 - PSG1 P11464 VAR_059408 p.Ile125Val Polymorphism rs1058960 - PSG2 P11465 VAR_016039 p.Val20Leu Polymorphism rs3887660 - PSG2 P11465 VAR_049918 p.Thr176Ala Polymorphism rs16976431 - PSG2 P11465 VAR_049919 p.Gln179Leu Polymorphism rs1058086 - PSG2 P11465 VAR_049920 p.Thr335Arg Polymorphism rs1064937 - PSG3 Q16557 VAR_015679 p.Leu30Pro Polymorphism rs12185496 - PSG3 Q16557 VAR_026722 p.Leu23Ser Polymorphism rs11559136 - PSG3 Q16557 VAR_026723 p.Asn198Thr Polymorphism rs16976174 - PSG3 Q16557 VAR_049921 p.Lys199Asn Polymorphism rs17173152 - PSG3 Q16557 VAR_059409 p.Leu30Ser Polymorphism rs12185496 - PSG3 Q16557 VAR_061323 p.Ile290Asn Polymorphism rs28698193 - PSG4 Q00888 VAR_016040 p.Leu75Val Polymorphism rs3170216 - PSG4 Q00888 VAR_056073 p.Ser240Pro Polymorphism rs3859474 - PSG4 Q00888 VAR_056074 p.Val286Ala Polymorphism rs2355442 - PSG4 Q00888 VAR_060362 p.Gln11His Polymorphism rs11883278 - PSG4 Q00888 VAR_060363 p.Ser177Arg Polymorphism rs73548061 - PSG4 Q00888 VAR_060364 p.Lys267Glu Polymorphism rs1058718 - PSG5 Q15238 VAR_016041 p.Asn154Lys Polymorphism rs1058259 - PSG5 Q15238 VAR_060260 p.Leu18Val Polymorphism rs8107936 - PSG5 Q15238 VAR_060261 p.Thr168Ile Polymorphism rs5013158 - PSG5 Q15238 VAR_060262 p.Arg227His Polymorphism rs1058285 - PSG6 Q00889 VAR_011723 p.Leu155Phe Polymorphism rs1058674 - PSG6 Q00889 VAR_011724 p.Arg165Leu Polymorphism rs1058680 - PSG6 Q00889 VAR_011725 p.Ile167Thr Polymorphism rs1065505 - PSG6 Q00889 VAR_011726 p.Leu180Trp Polymorphism rs1065507 - PSG6 Q00889 VAR_011727 p.Leu181Met Polymorphism rs1065508 - PSG6 Q00889 VAR_011728 p.Asn185Ser Polymorphism rs1065509 - PSG6 Q00889 VAR_011729 p.Arg191Ser Polymorphism rs1058688 - PSG6 Q00889 VAR_011730 p.Lys196Glu Polymorphism rs1065511 - PSG6 Q00889 VAR_011731 p.Lys253Asn Polymorphism rs1065513 - PSG6 Q00889 VAR_011732 p.Leu257Ser Polymorphism rs1058710 - PSG6 Q00889 VAR_011733 p.Ala258Thr Polymorphism rs1065515 - PSG6 Q00889 VAR_011735 p.Ile404Ser Polymorphism rs1065525 - PSG6 Q00889 VAR_049922 p.His85Asp Polymorphism rs3198831 - PSG6 Q00889 VAR_049923 p.Met161Thr Polymorphism rs1058679 - PSG6 Q00889 VAR_061324 p.Met188Arg Polymorphism rs59587483 - PSG7 Q13046 VAR_056075 p.His65Tyr Polymorphism rs7245978 - PSG8 Q9UQ74 VAR_033620 p.Val349Asp Polymorphism rs1064490 - PSG8 Q9UQ74 VAR_049924 p.Gln315Pro Polymorphism rs11879884 - PSG9 Q00887 VAR_049925 p.Ile325Thr Polymorphism rs1135905 - PSG9 Q00887 VAR_049926 p.Gln374Leu Polymorphism rs2074923 - PSG9 Q00887 VAR_049927 p.His397Arg Polymorphism rs2072285 - PSG9 Q00887 VAR_058296 p.Ala176Thr Polymorphism rs1058085 - PSG9 Q00887 VAR_059410 p.Leu18Val Polymorphism rs8101191 - PSKH1 P11801 VAR_040614 p.Asn301Ser Polymorphism rs35552721 - PSKH2 Q96QS6 VAR_040615 p.Gly72Asp Polymorphism rs56407605 - PSKH2 Q96QS6 VAR_040616 p.Arg79Lys Polymorphism rs35315725 - PSKH2 Q96QS6 VAR_040617 p.Arg114Gln Polymorphism rs35915498 - PSKH2 Q96QS6 VAR_040618 p.Ser116Ile Unclassified - A lung adenocarcinoma sample PSKH2 Q96QS6 VAR_040619 p.Gln132Arg Polymorphism rs16879427 - PSKH2 Q96QS6 VAR_040620 p.Arg148Gln Polymorphism rs56356246 - PSKH2 Q96QS6 VAR_040621 p.Ala176Ser Polymorphism rs6998760 - PSKH2 Q96QS6 VAR_040622 p.Gly211Arg Polymorphism rs36074412 - PSKH2 Q96QS6 VAR_040623 p.Lys212Ile Unclassified - A lung adenocarcinoma sample PSKH2 Q96QS6 VAR_040624 p.Thr225Ala Polymorphism rs34457516 - PSKH2 Q96QS6 VAR_040625 p.Ser266Arg Polymorphism rs34037815 - PSKH2 Q96QS6 VAR_040626 p.Ile336Val Polymorphism rs16876805 - PSMA2 P25787 VAR_036278 p.Leu110Val Unclassified - A colorectal cancer sample PSMA6 P60900 VAR_051546 p.Ala233Ser Polymorphism rs15434 - PSMB11 A5LHX3 VAR_051550 p.Gly49Ser Polymorphism rs34457782 - PSMB1 P20618 VAR_051547 p.Pro11Ala Polymorphism rs12717 - PSMB1 P20618 VAR_051548 p.Ile208Asn Polymorphism rs10541 - PSMB3 P49720 VAR_034415 p.Met34Leu Polymorphism rs4907 - PSMB4 P28070 VAR_012072 p.Met95Ile Polymorphism rs1804241 - PSMB4 P28070 VAR_013115 p.Ile234Thr Polymorphism rs4603 - PSMB5 P28074 VAR_051549 p.Arg24Cys Polymorphism rs11543947 - PSMB6 P28072 VAR_020030 p.Pro107Ala Polymorphism rs2304974 - PSMB7 Q99436 VAR_013292 p.Val39Ala Polymorphism rs4574 - PSMB8 P28062 VAR_006488 p.Gly8Arg Unclassified - - PSMB8 P28062 VAR_057046 p.Thr74Ser Polymorphism rs17220206 - PSMB8 P28062 VAR_065204 p.Gln49Lys Polymorphism rs2071543 - PSMB8 P28062 VAR_065291 p.Thr75Met Disease - Nakajo syndrome (NKJO) [MIM:256040] PSMB9 P28065 VAR_013578 p.Arg60His Polymorphism rs17587 - PSMB9 P28065 VAR_051551 p.Gly9Glu Polymorphism rs35100697 - PSMB9 P28065 VAR_051552 p.Val32Ile Polymorphism rs241419 - PSMB9 P28065 VAR_051553 p.Arg173Cys Polymorphism rs17213861 - PSMC3IP Q9P2W1 VAR_037841 p.Tyr163Asn Polymorphism rs2292754 - PSMC5 P62195 VAR_035901 p.Arg60Gln Unclassified - A colorectal cancer sample PSMC5 P62195 VAR_048119 p.Arg258Trp Polymorphism rs11543211 - PSMD12 O00232 VAR_051558 p.Val358Ala Polymorphism rs2230680 - PSMD13 Q9UNM6 VAR_024591 p.Asn13Ser Polymorphism rs1045288 - PSMD13 Q9UNM6 VAR_031094 p.Gly204Glu Polymorphism rs1794108 - PSMD13 Q9UNM6 VAR_031095 p.Leu205Phe Polymorphism rs1794109 - PSMD13 Q9UNM6 VAR_057050 p.Ser150Leu Polymorphism rs28927679 - PSMD2 Q13200 VAR_051554 p.Ala176Thr Polymorphism rs11545172 - PSMD2 Q13200 VAR_051555 p.Glu313Asp Polymorphism rs11545169 - PSMD5 Q16401 VAR_051556 p.Glu21Gly Polymorphism rs2297575 - PSMD5 Q16401 VAR_051557 p.Leu72His Polymorphism rs17282618 - PSMD9 O00233 VAR_009953 p.Val17Ala Polymorphism rs2230681 - PSMD9 O00233 VAR_057047 p.Thr74Ile Polymorphism rs2291116 - PSMD9 O00233 VAR_057048 p.Arg134Trp Polymorphism rs1177573 - PSMD9 O00233 VAR_057049 p.Glu197Gly Polymorphism rs14259 - PSME1 Q06323 VAR_011993 p.Ser55Asn Polymorphism rs1803830 - PSME1 Q06323 VAR_011994 p.Thr244Lys Polymorphism rs14930 - PSME2 Q9UL46 VAR_063111 p.His89Pro Polymorphism rs7146672 - PSME4 Q14997 VAR_031189 p.Ile872Val Polymorphism rs2302878 - PSME4 Q14997 VAR_031190 p.Ser1371Thr Polymorphism rs805408 - PSME4 Q14997 VAR_059755 p.Thr1825Ala Polymorphism rs35903236 - PSMF1 Q92530 VAR_022153 p.His174Arg Polymorphism rs2235587 - PSMF1 Q92530 VAR_024564 p.Phe36Cys Polymorphism rs1803415 - PSMG1 O95456 VAR_054014 p.Ile166Val Polymorphism rs8131611 - PSORS1C1 Q9UIG5 VAR_017391 p.Pro24Thr Polymorphism rs1265097 - PSORS1C1 Q9UIG5 VAR_017392 p.Glu34Gln Polymorphism - - PSORS1C1 Q9UIG5 VAR_017393 p.Arg37His Polymorphism rs9263726 - PSORS1C1 Q9UIG5 VAR_017394 p.Pro133Leu Polymorphism rs1063646 - PSORS1C1 Q9UIG5 VAR_047088 p.Glu34Lys Polymorphism rs1265096 - PSORS1C1 Q9UIG5 VAR_047089 p.Pro43Ser Polymorphism rs9501057 - PSORS1C1 Q9UIG5 VAR_047090 p.Ser66Cys Polymorphism rs2233943 - PSORS1C2 Q9UIG4 VAR_017395 p.Gly25Asp Polymorphism rs2233950 - PSORS1C2 Q9UIG4 VAR_017396 p.Pro84Leu Polymorphism - - PSORS1C2 Q9UIG4 VAR_063104 p.Leu83Pro Polymorphism rs2233952 - PSPH P78330 VAR_022378 p.Asp32Asn Disease rs28933976 Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023] PSPH P78330 VAR_022379 p.Met52Thr Disease - Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023] PSRC1 Q6PGN9 VAR_051288 p.Arg312Gln Polymorphism rs34863121 - PSTK Q8IV42 VAR_028156 p.Gly206Arg Polymorphism rs3736582 - PSTPIP1 O43586 VAR_023515 p.Gln48His Polymorphism rs1141038 - PSTPIP1 O43586 VAR_023516 p.Glu106Lys Polymorphism rs1141039 - PSTPIP1 O43586 VAR_023517 p.Gln146His Polymorphism rs1141041 - PSTPIP1 O43586 VAR_023518 p.Arg149Leu Polymorphism rs1141042 - PSTPIP1 O43586 VAR_023519 p.Ala151Ser Polymorphism rs1141043 - PSTPIP1 O43586 VAR_023520 p.Glu155Asp Polymorphism rs1141044 - PSTPIP1 O43586 VAR_023521 p.Gln156His Polymorphism rs1141045 - PSTPIP1 O43586 VAR_023522 p.Ala230Thr Disease rs28939381 PAPA syndrome (PAPAS) [MIM:604416] PSTPIP1 O43586 VAR_023523 p.Glu250Gln Disease rs28939089 PAPA syndrome (PAPAS) [MIM:604416] PSTPIP2 Q9H939 VAR_059708 p.Asn322Asp Polymorphism rs2276199 - PSTPIP2 Q9H939 VAR_059709 p.Asn322Ser Polymorphism rs16978507 - PTAFR P25105 VAR_011851 p.Ala224Asp Polymorphism rs5938 - PTAFR P25105 VAR_011852 p.Asn338Ser Polymorphism rs5939 - PTCD1 O75127 VAR_052936 p.Pro356Leu Polymorphism rs34714513 - PTCD1 O75127 VAR_052937 p.Val620Gly Polymorphism rs35633728 - PTCD3 Q96EY7 VAR_035154 p.Ala2Val Polymorphism rs13393659 - PTCD3 Q96EY7 VAR_035155 p.Ser681Gly Polymorphism rs2241433 - PTCH1 Q13635 VAR_007843 p.Leu175Pro Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_007844 p.Phe376Ser Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_007847 p.Arg1114Trp Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_007847 p.Arg1114Trp Disease - Sporadic basal cell carcinoma (BCC) [MIM:605462] PTCH1 Q13635 VAR_010974 p.Gly509Arg Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_010975 p.Gly509Val Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_010976 p.Asp513Tyr Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_010978 p.Val829Met Unclassified - Squamous cell carcinoma PTCH1 Q13635 VAR_010979 p.Gly1069Arg Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_010980 p.Ser1132Pro Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_010981 p.Ser1132Tyr Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_010982 p.Glu1242Lys Unclassified - Squamous cell carcinoma PTCH1 Q13635 VAR_010983 p.Pro1315Leu Polymorphism rs357564 - PTCH1 Q13635 VAR_010984 p.Glu1438Asp Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_020440 p.Thr1195Ser Polymorphism rs2236405 - PTCH1 Q13635 VAR_020845 p.Thr230Pro Disease - Basal cell nevus syndrome (BCNS) [MIM:109400] PTCH1 Q13635 VAR_020847 p.Pro1282Leu Polymorphism rs2227968 - PTCH1 Q13635 VAR_032952 p.Ala393Thr Disease - Holoprosencephaly type 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032953 p.Ala443Gly Disease - Holoprosencephaly type 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032954 p.Thr728Met Disease rs28936404 Holoprosencephaly type 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032955 p.Val751Gly Disease - Holoprosencephaly type 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032956 p.Ser827Gly Disease - Holoprosencephaly type 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032957 p.Val908Gly Disease - Holoprosencephaly type 7 (HPE7) [MIM:610828] PTCH1 Q13635 VAR_032958 p.Thr1052Met Disease rs28936405 Holoprosencephaly type 7 (HPE7) [MIM:610828] PTCH2 Q9Y6C5 VAR_018935 p.Glu346Gln Polymorphism rs11573578 - PTCH2 Q9Y6C5 VAR_018936 p.Glu493Lys Polymorphism rs11573581 - PTCH2 Q9Y6C5 VAR_018937 p.His622Tyr Polymorphism rs11573586 - PTCH2 Q9Y6C5 VAR_018938 p.Thr988Met Polymorphism rs11573590 - PTCH2 Q9Y6C5 VAR_018939 p.Val1019Met Polymorphism rs11573591 - PTCH2 Q9Y6C5 VAR_018940 p.Ile1121Met Polymorphism rs11573598 - PTCH2 Q9Y6C5 VAR_050466 p.Val995Met Polymorphism rs11573591 - PTCHD1 Q96NR3 VAR_064872 p.Leu73Phe Polymorphism - - PTCHD1 Q96NR3 VAR_064873 p.Ile173Val Polymorphism - - PTCHD1 Q96NR3 VAR_064874 p.Val195Ile Polymorphism - - PTCHD1 Q96NR3 VAR_064875 p.Pro251Leu Polymorphism - - PTCHD1 Q96NR3 VAR_064877 p.His359Arg Polymorphism - - PTCHD1 Q96NR3 VAR_064878 p.Ala470Asp Polymorphism - - PTCHD1 Q96NR3 VAR_064879 p.Glu479Gly Polymorphism - - PTCHD1 Q96NR3 VAR_064880 p.Asn497Lys Polymorphism rs35880456 - PTCHD2 Q9P2K9 VAR_036796 p.Leu51Val Polymorphism rs3738159 - PTCHD2 Q9P2K9 VAR_036797 p.Gly182Ser Polymorphism rs2817580 - PTCHD2 Q9P2K9 VAR_036798 p.Ala650Thr Polymorphism rs2072994 - PTCHD2 Q9P2K9 VAR_036799 p.Gly661Ala Polymorphism rs2072993 - PTCHD2 Q9P2K9 VAR_036800 p.Arg948His Polymorphism rs12096312 - PTCHD2 Q9P2K9 VAR_061496 p.Gly39Arg Polymorphism rs41274528 - PTCHD3 Q3KNS1 VAR_036918 p.Thr126Ala Polymorphism rs12098477 - PTCHD3 Q3KNS1 VAR_036919 p.Leu152Pro Polymorphism rs6482626 - PTCHD3 Q3KNS1 VAR_036920 p.Ala224Gly Polymorphism rs12098562 - PTCHD3 Q3KNS1 VAR_036921 p.Arg372Lys Polymorphism rs2152099 - PTCHD3 Q3KNS1 VAR_036922 p.Cys407Gly Polymorphism rs2484180 - PTCHD3 Q3KNS1 VAR_036923 p.Asp473Gly Polymorphism rs2429485 - PTCHD3 Q3KNS1 VAR_036924 p.Met521Thr Polymorphism rs2505327 - PTCHD3 Q3KNS1 VAR_036925 p.Ile584Met Polymorphism rs1638630 - PTCRA Q6ISU1 VAR_038957 p.Val106Ile Polymorphism rs9471966 - PTCRA Q6ISU1 VAR_038958 p.Ala183Thr Polymorphism rs36111725 - PTDSS1 P48651 VAR_048735 p.Thr423Asn Polymorphism rs7835798 - PTEN P60484 VAR_007457 p.Arg15Ser Unclassified - Glioma PTEN P60484 VAR_007458 p.Gly36Glu Unclassified - Glioma PTEN P60484 VAR_007459 p.Leu42Arg Unclassified - Glioma PTEN P60484 VAR_007460 p.Leu57Trp Unclassified - Glioma PTEN P60484 VAR_007461 p.Ile67Arg Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_007462 p.Tyr68His Disease - Bannayan-Zonana syndrome (BZS) [MIM:153480] PTEN P60484 VAR_007462 p.Tyr68His Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_007463 p.His123Arg Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_007464 p.Cys124Arg Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_007465 p.Gly129Glu Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_007466 p.Gly129Arg Unclassified - Glioblastoma PTEN P60484 VAR_007467 p.Arg130Leu Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_007468 p.Arg130Gln Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_007469 p.Met134Leu Disease - Prostate cancer (PC) [MIM:176807] PTEN P60484 VAR_007470 p.Ser170Arg Disease - Bannayan-Zonana syndrome (BZS) [MIM:153480] PTEN P60484 VAR_007807 p.Leu112Pro Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_007807 p.Leu112Pro Disease - Lhermitte-Duclos disease (LDD) [MIM:158350] PTEN P60484 VAR_007808 p.Cys136Tyr Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_008036 p.Met35Arg Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_008734 p.Ala34Asp Disease - Bannayan-Zonana syndrome (BZS) [MIM:153480] PTEN P60484 VAR_008735 p.Cys105Tyr Disease - Bannayan-Zonana syndrome (BZS) [MIM:153480] PTEN P60484 VAR_008736 p.Ile135Val Disease - Bannayan-Zonana syndrome (BZS) [MIM:153480] PTEN P60484 VAR_008738 p.Gly165Val Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_008739 p.Gly165Glu Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_008740 p.Pro246Leu Disease - Bannayan-Zonana syndrome (BZS) [MIM:153480] PTEN P60484 VAR_008740 p.Pro246Leu Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_008741 p.Lys289Glu Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_008742 p.Val343Glu Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_008743 p.Phe347Leu Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_011587 p.Arg47Gly Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_011588 p.Val119Leu Unclassified - Multiple cancers PTEN P60484 VAR_011589 p.Val158Leu Unclassified - Multiple cancers PTEN P60484 VAR_018100 p.Asp19Asn Unclassified - Malignant melanoma PTEN P60484 VAR_018101 p.His61Asp Unclassified - - PTEN P60484 VAR_018102 p.Leu70Pro Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_018103 p.Ala121Gly Disease - Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] PTEN P60484 VAR_018104 p.Cys124Ser Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_018105 p.Val217Ile Unclassified - Malignant melanoma PTEN P60484 VAR_018106 p.Arg234Gln Unclassified - A patient with glioma PTEN P60484 VAR_025167 p.Val290Leu Polymorphism rs35600253 - PTEN P60484 VAR_026248 p.Ser10Asn Unclassified - - PTEN P60484 VAR_026249 p.Tyr16Cys Unclassified - - PTEN P60484 VAR_026250 p.Gly20Glu Unclassified - - PTEN P60484 VAR_026251 p.Tyr27Ser Unclassified - - PTEN P60484 VAR_026252 p.Gly36Arg Unclassified - - PTEN P60484 VAR_026253 p.His61Arg Unclassified - - PTEN P60484 VAR_026254 p.Cys71Tyr Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_026255 p.His93Tyr Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_026256 p.Cys105Phe Disease - Bannayan-Zonana syndrome (BZS) [MIM:153480] PTEN P60484 VAR_026257 p.Asp107Tyr Disease - Bannayan-Zonana syndrome (BZS) [MIM:153480] PTEN P60484 VAR_026258 p.Leu112Arg Unclassified - - PTEN P60484 VAR_026259 p.Ala121Pro Unclassified - Glioblastoma PTEN P60484 VAR_026260 p.His123Tyr Disease - Endometrial cancer (ENDMC) [MIM:608089] PTEN P60484 VAR_026261 p.Arg130Gly Unclassified - - PTEN P60484 VAR_026262 p.Val133Ile Unclassified - - PTEN P60484 VAR_026263 p.Tyr155Cys Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_026264 p.Gly165Arg Unclassified - Glioblastoma PTEN P60484 VAR_026265 p.Thr167Pro Unclassified - Breast cancer PTEN P60484 VAR_026266 p.Ser170Asn Unclassified - - PTEN P60484 VAR_026267 p.Arg173Cys Unclassified - - PTEN P60484 VAR_026268 p.Arg173His Unclassified - - PTEN P60484 VAR_026269 p.Arg173Pro Unclassified - - PTEN P60484 VAR_026270 p.Tyr174Asn Unclassified - - PTEN P60484 VAR_026271 p.Val191Ala Unclassified - - PTEN P60484 VAR_026272 p.Ser227Phe Unclassified - - PTEN P60484 VAR_026273 p.Gly251Cys Unclassified - - PTEN P60484 VAR_026275 p.Asp331Gly Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_026276 p.Phe341Val Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_026277 p.Lys342Asn Disease - Cowden disease (CD) [MIM:158350] PTEN P60484 VAR_026278 p.Leu345Gln Unclassified - Glioblastoma PTEN P60484 VAR_026279 p.Thr348Ile Unclassified - - PTEN P60484 VAR_026280 p.Val369Gly Unclassified - - PTEN P60484 VAR_026281 p.Thr401Ile Unclassified - - PTEN P60484 VAR_032634 p.His93Arg Disease - Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] PTEN P60484 VAR_032635 p.Gly132Val Unclassified - One patient with clinical findings suggesting hamartoma tumor syndrome PTEN P60484 VAR_032636 p.Phe241Ser Disease - Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] PTEN P60484 VAR_032637 p.Asp252Gly Disease - Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] PTER Q96BW5 VAR_051610 p.Glu97Gly Polymorphism rs36023740 - PTF1A Q7RTS3 VAR_049548 p.Ser263Pro Polymorphism rs7918487 - PTGDR2 Q9Y5Y4 VAR_063131 p.Val204Ala Polymorphism rs2467642 - PTGDR Q13258 VAR_033482 p.Arg7Cys Polymorphism rs41311442 - PTGDR Q13258 VAR_033483 p.Glu301Ala Polymorphism rs41312504 - PTGDR Q13258 VAR_054975 p.Gly198Glu Polymorphism rs41312444 - PTGDR Q13258 VAR_054976 p.Arg332Gln Polymorphism rs41312506 - PTGDS P41222 VAR_004273 p.Arg56Gln Polymorphism rs11552179 - PTGER1 P34995 VAR_017190 p.Ala71Thr Polymorphism rs1057362 - PTGER1 P34995 VAR_029216 p.Thr223Met Polymorphism rs28364042 - PTGER1 P34995 VAR_029217 p.His256Arg Polymorphism rs7249305 - PTGER3 P43115 VAR_014694 p.Met169Leu Polymorphism rs5670 - PTGER3 P43115 VAR_014695 p.Pro375Leu Polymorphism rs5694 - PTGER3 P43115 VAR_029218 p.Asn366Ser Polymorphism rs13306014 - PTGER3 P43115 VAR_049436 p.Thr319Met Polymorphism rs13306020 - PTGES2 Q9H7Z7 VAR_049494 p.Arg298His Polymorphism rs13283456 - PTGFRN Q9P2B2 VAR_024496 p.Val837Ile Polymorphism rs10801922 - PTGFRN Q9P2B2 VAR_059388 p.Ser277Thr Polymorphism rs4546904 - PTGIR P43119 VAR_024260 p.Val25Met Polymorphism rs2229127 - PTGIR P43119 VAR_061226 p.Ser319Trp Polymorphism rs28590598 - PTGIS Q16647 VAR_010915 p.Pro38Leu Polymorphism - - PTGIS Q16647 VAR_010916 p.Ser118Arg Polymorphism rs5622 - PTGIS Q16647 VAR_010917 p.Arg379Ser Polymorphism rs56195291 - PTGIS Q16647 VAR_014634 p.Glu154Ala Polymorphism rs5623 - PTGIS Q16647 VAR_014635 p.Phe171Leu Polymorphism rs5624 - PTGIS Q16647 VAR_014636 p.Arg236Cys Polymorphism rs5626 - PTGIS Q16647 VAR_014637 p.Pro500Ser Polymorphism rs5584 - PTGR1 Q14914 VAR_023111 p.Ala27Ser Polymorphism rs1053959 - PTGS1 P23219 VAR_013451 p.Trp8Arg Polymorphism rs1236913 - PTGS1 P23219 VAR_013452 p.Pro17Leu Polymorphism rs3842787 - PTGS1 P23219 VAR_013453 p.Lys359Arg Polymorphism rs5791 - PTGS1 P23219 VAR_013454 p.Ile443Val Polymorphism rs5792 - PTGS1 P23219 VAR_019161 p.Arg53His Polymorphism rs3842789 - PTGS1 P23219 VAR_019162 p.Arg149Leu Polymorphism rs10306140 - PTGS1 P23219 VAR_019163 p.Leu237Met Polymorphism rs5789 - PTGS1 P23219 VAR_028017 p.Val481Ile Polymorphism rs5794 - PTGS1 P23219 VAR_056663 p.Lys185Thr Polymorphism rs3842792 - PTGS1 P23219 VAR_056664 p.Lys341Arg Polymorphism rs3842799 - PTGS2 P35354 VAR_011980 p.Glu488Gly Polymorphism rs5272 - PTGS2 P35354 VAR_011981 p.Val511Ala Polymorphism rs5273 - PTGS2 P35354 VAR_016262 p.Arg228His Polymorphism rs3218622 - PTGS2 P35354 VAR_016263 p.Pro428Ala Polymorphism rs4648279 - PTGS2 P35354 VAR_016264 p.Gly587Arg Polymorphism rs3218625 - PTH1R Q03431 VAR_003582 p.His223Arg Disease - Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] PTH1R Q03431 VAR_003583 p.Thr410Pro Disease - Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] PTH1R Q03431 VAR_016062 p.Pro132Leu Disease - Chondrodysplasia Blomstrand type (BOCD) [MIM:215045] PTH1R Q03431 VAR_016063 p.Arg150Cys Disease - Enchondromatosis multiple (ENCHOM) [MIM:166000] PTH1R Q03431 VAR_016064 p.Ile458Arg Disease - Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] PTH1R Q03431 VAR_038811 p.Thr410Arg Disease - Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] PTHLH P12272 VAR_036433 p.Ser169Thr Unclassified - A breast cancer sample PTHLH P12272 VAR_063711 p.Leu44Pro Disease - Brachydactyly type E2 (BDE2) [MIM:613382] PTHLH P12272 VAR_063712 p.Leu60Pro Disease - Brachydactyly type E2 (BDE2) [MIM:613382] PTH P01270 VAR_006047 p.Cys18Arg Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] PTH P01270 VAR_018464 p.Ser23Pro Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200] PTK2B Q14289 VAR_020284 p.Lys838Thr Polymorphism rs751019 - PTK2B Q14289 VAR_041687 p.Gln359Glu Polymorphism rs56175011 - PTK2B Q14289 VAR_041688 p.Arg698His Polymorphism rs35174236 - PTK2B Q14289 VAR_041689 p.Leu808Pro Polymorphism rs55747955 - PTK2B Q14289 VAR_041690 p.Glu970Lys Polymorphism rs56263944 - PTK2 Q05397 VAR_041682 p.His292Pro Polymorphism - - PTK2 Q05397 VAR_041683 p.His292Gln Polymorphism - - PTK2 Q05397 VAR_041684 p.Val793Ala Unclassified - A glioblastoma multiforme sample PTK2 Q05397 VAR_041685 p.Asp1030Glu Polymorphism - - PTK2 Q05397 VAR_041686 p.Lys1044Glu Unclassified - A metastatic melanoma sample PTK6 Q13882 VAR_041760 p.Leu16Phe Unclassified - - PTK6 Q13882 VAR_041761 p.Ala436Thr Polymorphism rs56145017 - PTK7 Q13308 VAR_041502 p.Arg276His Polymorphism rs56188167 - PTK7 Q13308 VAR_041503 p.Thr410Ser Polymorphism rs34021075 - PTK7 Q13308 VAR_041504 p.Glu745Asp Polymorphism rs9472017 - PTK7 Q13308 VAR_041505 p.Glu766Gln Polymorphism rs56216742 - PTK7 Q13308 VAR_041506 p.Ala777Val Polymorphism rs34764696 - PTK7 Q13308 VAR_041507 p.His783Arg Polymorphism rs55820547 - PTK7 Q13308 VAR_041508 p.Ala933Val Unclassified - A colorectal adenocarcinoma sample PTK7 Q13308 VAR_041509 p.Pro1029Thr Polymorphism rs55755163 - PTK7 Q13308 VAR_041510 p.Arg1038Gln Polymorphism rs34865794 - PTPDC1 A2A3K4 VAR_037455 p.Leu571Gln Polymorphism rs16909677 - PTPLA B0YJ81 VAR_046366 p.Glu64Lys Polymorphism rs7895850 - PTPLA B0YJ81 VAR_046367 p.Glu64Gln Polymorphism - - PTPLA B0YJ81 VAR_046368 p.Val70Phe Polymorphism rs11254692 - PTPLA B0YJ81 VAR_046369 p.His227Tyr Polymorphism rs1053926 - PTPLAD1 Q9P035 VAR_037712 p.Glu56Lys Polymorphism rs11632737 - PTPLAD1 Q9P035 VAR_037713 p.Met269Leu Polymorphism rs2279854 - PTPLAD2 Q5VWC8 VAR_037714 p.Thr36Ala Polymorphism rs2298260 - PTPN11 Q06124 VAR_015601 p.Thr42Ala Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015602 p.Gly60Ala Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015603 p.Asp61Gly Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015604 p.Asp61Asn Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015605 p.Tyr62Asp Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015606 p.Tyr63Cys Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015607 p.Ala72Gly Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015608 p.Ala72Ser Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015609 p.Thr73Ile Disease rs28933387 Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015610 p.Glu76Asp Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015611 p.Gln79Arg Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015612 p.Asp106Ala Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015613 p.Glu139Asp Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015614 p.Tyr279Cys Disease - LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100] PTPN11 Q06124 VAR_015614 p.Tyr279Cys Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015615 p.Ile282Val Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015616 p.Phe285Ser Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015617 p.Phe285Leu Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015618 p.Asn308Ser Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015619 p.Asn308Asp Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015620 p.Ile309Val Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015621 p.Thr472Met Disease - LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100] PTPN11 Q06124 VAR_015622 p.Arg505Lys Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015623 p.Ser506Thr Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015624 p.Met508Val Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_015990 p.Gly60Val Unclassified - - PTPN11 Q06124 VAR_015991 p.Asp61Val Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_015992 p.Asp61Tyr Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_015993 p.Glu69Lys Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_015994 p.Phe71Lys Unclassified - Acute myeloid leukemia PTPN11 Q06124 VAR_015995 p.Phe71Leu Unclassified - - PTPN11 Q06124 VAR_015996 p.Ala72Thr Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_015997 p.Ala72Val Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_015998 p.Glu76Ala Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_015999 p.Glu76Gly Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_016000 p.Glu76Lys Disease rs28933388 Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_016001 p.Glu76Val Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_016002 p.Gly507Ala Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_016003 p.Gly507Arg Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785] PTPN11 Q06124 VAR_027183 p.Thr2Ile Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027184 p.Asn58Lys Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027185 p.Glu69Gln Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027186 p.Gln79Pro Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027187 p.Gln256Arg Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027188 p.Tyr279Ser Disease - LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100] PTPN11 Q06124 VAR_027189 p.Thr415Met Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027190 p.Ala465Thr Disease - LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100] PTPN11 Q06124 VAR_027191 p.Gly468Ala Disease - LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100] PTPN11 Q06124 VAR_027192 p.Arg502Leu Disease - LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100] PTPN11 Q06124 VAR_027193 p.Arg502Trp Disease - LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100] PTPN11 Q06124 VAR_027194 p.Gln510Pro Disease - LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100] PTPN11 Q06124 VAR_027195 p.Gln510Arg Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN11 Q06124 VAR_027196 p.Gln514Pro Disease - LEOPARD syndrome type 1 (LEOPARD1) [MIM:151100] PTPN11 Q06124 VAR_027197 p.Leu564Phe Disease - Noonan syndrome type 1 (NS1) [MIM:163950] PTPN12 Q05209 VAR_006385 p.Lys61Arg Unclassified - Colon cancer PTPN12 Q05209 VAR_019512 p.Val322Ile Polymorphism rs9640663 - PTPN12 Q05209 VAR_020297 p.Thr573Ala Polymorphism rs3750050 - PTPN12 Q05209 VAR_057129 p.Glu706Lys Polymorphism rs2230602 - PTPN13 Q12923 VAR_016200 p.Leu1419Pro Polymorphism - - PTPN13 Q12923 VAR_016201 p.Ile1522Met Polymorphism rs2230600 - PTPN13 Q12923 VAR_024373 p.Glu1625Lys Polymorphism rs12500797 - PTPN13 Q12923 VAR_024374 p.Tyr2081Asp Polymorphism rs989902 - PTPN13 Q12923 VAR_048359 p.Phe1356Leu Polymorphism rs10033029 - PTPN13 Q12923 VAR_048360 p.Ser1744Pro Polymorphism rs17012064 - PTPN13 Q12923 VAR_048361 p.Ile2458Val Polymorphism rs34226837 - PTPN14 Q15678 VAR_035849 p.Gln159Glu Unclassified - A breast cancer sample PTPN14 Q15678 VAR_035850 p.His360Pro Unclassified - A breast cancer sample PTPN14 Q15678 VAR_046995 p.Val505Phe Polymorphism rs12239356 - PTPN18 Q99952 VAR_047651 p.Met193Val Polymorphism rs3739124 - PTPN1 P18031 VAR_022013 p.Gly381Ser Polymorphism rs16995304 - PTPN1 P18031 VAR_022014 p.Pro387Leu Polymorphism rs16995309 - PTPN21 Q16825 VAR_055539 p.Lys906Asn Polymorphism rs12879993 - PTPN21 Q16825 VAR_060341 p.Leu385Phe Polymorphism rs2401751 - PTPN21 Q16825 VAR_060342 p.Val936Ala Polymorphism rs2274736 - PTPN22 Q9Y2R2 VAR_022605 p.Arg620Trp Polymorphism rs2476601 - PTPN23 Q9H3S7 VAR_022682 p.Ala944Thr Polymorphism rs6780013 - PTPN23 Q9H3S7 VAR_022683 p.Pro1099Ser Unclassified - A lung cancer cell line PTPN3 P26045 VAR_055252 p.Asp77Asn Polymorphism rs35285139 - PTPN3 P26045 VAR_055253 p.Ala90Pro Polymorphism rs3793524 - PTPN3 P26045 VAR_055254 p.Thr409Ala Polymorphism rs10979858 - PTPN3 P26045 VAR_055255 p.Phe605Leu Polymorphism rs7859962 - PTPN3 P26045 VAR_055256 p.Asp763Asn Polymorphism rs10116806 - PTPN4 P29074 VAR_061033 p.Thr924Ser Polymorphism rs3189128 - PTPN5 P54829 VAR_054369 p.Pro170Ala Polymorphism rs4757707 - PTPN5 P54829 VAR_054370 p.His561Arg Polymorphism rs11024773 - PTPRA P18433 VAR_057134 p.Pro109Leu Polymorphism rs1178027 - PTPRB P23467 VAR_057135 p.Val395Ala Polymorphism rs36027530 - PTPRB P23467 VAR_057136 p.Asp415Glu Polymorphism rs2165627 - PTPRB P23467 VAR_057137 p.Thr939Met Polymorphism rs2304821 - PTPRB P23467 VAR_057138 p.Thr1032Ile Polymorphism rs34902691 - PTPRB P23467 VAR_057139 p.Gly1934Ala Polymorphism rs17226367 - PTPRB P23467 VAR_062251 p.Arg94Lys Polymorphism rs2252784 - PTPRB P23467 VAR_062252 p.Ser127Gly Polymorphism rs2465811 - PTPRCAP Q14761 VAR_061698 p.Gly128Glu Polymorphism rs60969594 - PTPRC P08575 VAR_020303 p.Ser1283Arg Polymorphism rs2298872 - PTPRC P08575 VAR_035653 p.Glu228Ala Unclassified - A breast cancer sample PTPRC P08575 VAR_035654 p.Gly863Arg Unclassified - A breast cancer sample PTPRC P08575 VAR_036860 p.Thr191Ala Polymorphism rs4915154 - PTPRC P08575 VAR_051763 p.Ile294Leu Polymorphism rs2230606 - PTPRC P08575 VAR_051764 p.Thr421Ile Polymorphism rs6696162 - PTPRC P08575 VAR_051765 p.His568Gln Polymorphism rs12136658 - PTPRD P23468 VAR_024581 p.Gln447Glu Polymorphism rs10977171 - PTPRD P23468 VAR_035645 p.Arg28Gln Unclassified - A colorectal cancer sample PTPRD P23468 VAR_035646 p.Leu276Pro Unclassified - A colorectal cancer sample PTPRD P23468 VAR_035647 p.Val901Ala Unclassified - A colorectal cancer sample PTPRD P23468 VAR_051761 p.Glu1078Asp Polymorphism rs7869444 - PTPRD P23468 VAR_061761 p.Arg995Cys Polymorphism rs35929428 - PTPRF P10586 VAR_020299 p.Tyr450Cys Polymorphism rs3748796 - PTPRF P10586 VAR_020300 p.Asp562Asn Polymorphism rs3748800 - PTPRF P10586 VAR_054766 p.Ala412Val Polymorphism rs1065775 - PTPRG P23470 VAR_020301 p.Gly574Ser Polymorphism rs2292245 - PTPRG P23470 VAR_031562 p.Gln639Arg Polymorphism rs9870460 - PTPRH Q9HD43 VAR_038918 p.His348Tyr Polymorphism rs2288515 - PTPRH Q9HD43 VAR_038919 p.Leu543Phe Polymorphism rs16986309 - PTPRH Q9HD43 VAR_038920 p.Lys781Asn Polymorphism rs2288523 - PTPRH Q9HD43 VAR_038921 p.Lys823Glu Polymorphism rs890870 - PTPRH Q9HD43 VAR_038922 p.Ile1076Val Polymorphism rs2288419 - PTPRH Q9HD43 VAR_061762 p.Asp232Asn Polymorphism rs55870162 - PTPRH Q9HD43 VAR_061763 p.Val243Ile Polymorphism rs45535035 - PTPRH Q9HD43 VAR_061764 p.Gly831Asp Polymorphism rs36092369 - PTPRJ Q12913 VAR_015905 p.Arg214Cys Unclassified - A colon cancer sample PTPRJ Q12913 VAR_015906 p.Gln276Pro Unclassified rs1566734 A colon cancer sample PTPRJ Q12913 VAR_024582 p.Arg326Gln Polymorphism rs1503185 - PTPRJ Q12913 VAR_038414 p.Ala293Thr Polymorphism rs2229701 - PTPRJ Q12913 VAR_038415 p.Val372Ile Polymorphism rs2229703 - PTPRJ Q12913 VAR_038416 p.Glu872Asp Polymorphism rs4752904 - PTPRJ Q12913 VAR_038417 p.Ile1235Thr Polymorphism rs11039554 - PTPRM P28827 VAR_046634 p.Ser39Arg Polymorphism rs35224276 - PTPRN2 Q92932 VAR_020302 p.Ser325Asn Polymorphism rs1130499 - PTPRN2 Q92932 VAR_022015 p.Val343Met Polymorphism rs3752368 - PTPRN2 Q92932 VAR_027955 p.Ser140Thr Polymorphism rs3800855 - PTPRN2 Q92932 VAR_027956 p.Arg213His Polymorphism rs1130496 - PTPRN2 Q92932 VAR_035648 p.Glu716Lys Unclassified - A colorectal cancer sample PTPRN2 Q92932 VAR_046301 p.Ser208Pro Polymorphism rs1130495 - PTPRN2 Q92932 VAR_046302 p.Leu388His Polymorphism rs7456452 - PTPRN Q16849 VAR_051762 p.Ser419Arg Polymorphism rs35314717 - PTPRQ Q9UMZ3 VAR_034970 p.Thr1040Ile Polymorphism rs12316867 - PTPRQ Q9UMZ3 VAR_034971 p.Phe1098Leu Polymorphism rs6539524 - PTPRQ Q9UMZ3 VAR_034972 p.Ala1120Pro Polymorphism rs7975340 - PTPRQ Q9UMZ3 VAR_034973 p.Asn1244Asp Polymorphism rs17713202 - PTPRQ Q9UMZ3 VAR_034974 p.Ile1734Thr Polymorphism rs7963963 - PTPRQ Q9UMZ3 VAR_034975 p.Arg2121Lys Polymorphism rs1163042 - PTPRQ Q9UMZ3 VAR_063526 p.Arg281Gly Disease - Deafness autosomal recessive type 84A (DFNB84A) [MIM:613391] PTPRR Q15256 VAR_014283 p.Lys314Arg Polymorphism rs3803036 - PTPRR Q15256 VAR_057140 p.Tyr249His Polymorphism rs35987017 - PTPRR Q15256 VAR_057141 p.Val386Ile Polymorphism rs35387004 - PTPRR Q15256 VAR_057142 p.Val439Ile Polymorphism rs35390084 - PTPRS Q13332 VAR_035649 p.Thr996Met Unclassified - A colorectal cancer sample PTPRS Q13332 VAR_047277 p.Cys1457Arg Polymorphism rs4807697 - PTPRT O14522 VAR_020746 p.Phe74Ser Unclassified - A colorectal cancer PTPRT O14522 VAR_020747 p.Ala209Thr Unclassified - Some colorectal cancers PTPRT O14522 VAR_020748 p.Lys218Thr Unclassified - A gastric cancer PTPRT O14522 VAR_020749 p.Phe248Ser Unclassified - A colorectal cancer PTPRT O14522 VAR_020750 p.Tyr280His Unclassified - A colorectal cancer PTPRT O14522 VAR_020751 p.Ile395Val Unclassified - A colorectal cancer PTPRT O14522 VAR_020752 p.Tyr412Phe Unclassified - A colorectal cancer PTPRT O14522 VAR_020753 p.Arg453Cys Unclassified - A gastric cancer PTPRT O14522 VAR_020754 p.Asn510Lys Unclassified - A colorectal cancer PTPRT O14522 VAR_020755 p.Thr605Met Unclassified - A colorectal cancer PTPRT O14522 VAR_020756 p.Val648Gly Unclassified - A colorectal cancer PTPRT O14522 VAR_020757 p.Ala707Thr Unclassified - A colorectal cancer PTPRT O14522 VAR_020758 p.Ala707Val Unclassified - A colorectal cancer PTPRT O14522 VAR_020759 p.Leu708Pro Unclassified - A colorectal cancer PTPRT O14522 VAR_020760 p.Arg771Ile Unclassified - A lung cancer PTPRT O14522 VAR_020761 p.Asp905Gly Unclassified - A colorectal cancer PTPRT O14522 VAR_020762 p.Gln965Lys Unclassified - A colorectal cancer PTPRT O14522 VAR_020763 p.Ala1096Pro Unclassified - A colorectal cancer PTPRT O14522 VAR_020764 p.Asn1106Ile Unclassified - A colorectal cancer PTPRT O14522 VAR_020765 p.Arg1190Trp Unclassified - A colorectal cancer PTPRT O14522 VAR_020766 p.Met1237Leu Unclassified - A colorectal cancer PTPRT O14522 VAR_020767 p.Val1247Met Unclassified - A colorectal cancer PTPRT O14522 VAR_020768 p.Arg1324Leu Unclassified - A lung cancer PTPRT O14522 VAR_020769 p.Tyr1329Phe Unclassified - A colorectal cancer PTPRT O14522 VAR_020770 p.Thr1346Met Unclassified - Some colorectal cancers PTPRT O14522 VAR_028795 p.Ala29Pro Polymorphism rs2867655 - PTPRT O14522 VAR_028796 p.Met76Val Polymorphism rs17811401 - PTPRT O14522 VAR_054144 p.Pro1213Leu Unclassified - An acute myeloid leukemia sample PTPRU Q92729 VAR_035650 p.His830Tyr Unclassified - A colorectal cancer sample PTPRU Q92729 VAR_035651 p.Arg835Trp Unclassified - A colorectal cancer sample PTPRU Q92729 VAR_035652 p.Arg856Cys Unclassified - A colorectal cancer sample PTPRU Q92729 VAR_055075 p.Thr60Asn Polymorphism rs35332573 - PTPRU Q92729 VAR_055076 p.Arg471Leu Polymorphism rs35745442 - PTPRU Q92729 VAR_055077 p.Asn940Ser Polymorphism rs2235937 - PTPRZ1 P23471 VAR_038942 p.Ile3Ser Polymorphism rs740965 - PTPRZ1 P23471 VAR_038943 p.Arg6Leu Polymorphism rs11980387 - PTPRZ1 P23471 VAR_038944 p.Gly1433Asp Polymorphism rs1147504 - PTRF Q6NZI2 VAR_034416 p.Glu193Gln Polymorphism rs35308568 - PTRF Q6NZI2 VAR_035982 p.Pro14Thr Unclassified - A breast cancer sample PTS Q03393 VAR_006816 p.Arg16Cys Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006817 p.Arg25Gly Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006818 p.Arg25Gln Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006819 p.Glu35Gly Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006820 p.Asn36Lys Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006821 p.Asn52Ser Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006822 p.Val56Met Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006824 p.Thr67Met Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006825 p.Val70Asp Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006826 p.Pro87Leu Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006827 p.Pro87Ser Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006828 p.Asp96Asn Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006829 p.Phe100Val Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006830 p.Thr106Met Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006831 p.Ile114Val Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006832 p.Lys129Glu Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_006833 p.Asp136Val Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_008040 p.Asn47Asp Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_008041 p.Asp116Gly Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058265 p.Leu26Phe Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058266 p.Val97Met Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058267 p.Tyr99Cys Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058268 p.Val124Leu Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTS Q03393 VAR_058269 p.Asp136Gly Disease - BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] PTTG2 Q9NZH5 VAR_038956 p.Arg44Pro Polymorphism rs6811863 - PTX3 P26022 VAR_043140 p.His39Gln Polymorphism rs34655398 - PTX3 P26022 VAR_043141 p.Ala48Asp Polymorphism rs3816527 - PTX3 P26022 VAR_043142 p.Ala290Val Polymorphism rs35415718 - PTX3 P26022 VAR_043143 p.Glu313Lys Polymorphism rs4478039 - PTX4 Q96A99 VAR_039249 p.Arg92Trp Polymorphism rs2745101 - PTX4 Q96A99 VAR_039250 p.Arg220Gly Polymorphism rs2667673 - PTX4 Q96A99 VAR_039251 p.Arg234Gln Polymorphism rs12445920 - PTX4 Q96A99 VAR_039252 p.Arg281Lys Polymorphism rs2745098 - PTX4 Q96A99 VAR_039253 p.Ala317Ser Polymorphism rs13332460 - PTX4 Q96A99 VAR_060084 p.Gly2Glu Polymorphism rs2745103 - PTX4 Q96A99 VAR_062130 p.Ile444Val Polymorphism rs59554810 - PUM2 Q8TB72 VAR_057100 p.Asn367Ser Polymorphism rs34032508 - PURG Q9UJV8 VAR_036317 p.Lys316Thr Unclassified - A breast cancer sample PURG Q9UJV8 VAR_053613 p.Ser26Gly Polymorphism rs11574153 - PURG Q9UJV8 VAR_053614 p.Glu143Lys Polymorphism rs7464560 - PURG Q9UJV8 VAR_053615 p.Glu241Ala Polymorphism rs11574151 - PUS10 Q3MIT2 VAR_035617 p.Thr484Ile Unclassified - A colorectal cancer sample PUS1 Q9Y606 VAR_021788 p.Arg144Trp Disease - Myopathy with lactic acidosis and sideroblastic anemia type 1 (MLASA1) [MIM:600462] PUS1 Q9Y606 VAR_036447 p.Asp133Asn Unclassified - A breast cancer sample PUS3 Q9BZE2 VAR_030836 p.Tyr3Asp Polymorphism rs622756 - PUS3 Q9BZE2 VAR_030837 p.Ala46Ser Polymorphism rs549990 - PUS3 Q9BZE2 VAR_030838 p.Glu460Asp Polymorphism rs3088241 - PUS7L Q9H0K6 VAR_038392 p.Ile92Met Polymorphism rs33999797 - PUS7L Q9H0K6 VAR_038393 p.Lys264Glu Polymorphism rs1057190 - PUS7L Q9H0K6 VAR_038394 p.Ile343Val Polymorphism rs34668377 - PUSL1 Q8N0Z8 VAR_034424 p.Arg103Gln Polymorphism rs12094447 - PUSL1 Q8N0Z8 VAR_051869 p.Arg197Trp Polymorphism rs34738574 - PVRIG Q6DKI7 VAR_043624 p.Asn81Asp Polymorphism rs2906645 - PVRL3 Q9NQS3 VAR_049995 p.Arg432Leu Polymorphism rs15611 - PVRL4 Q96NY8 VAR_034669 p.Phe53Leu Polymorphism rs3737786 - PVRL4 Q96NY8 VAR_064189 p.Thr185Met Disease - Ectodermal dysplasia-syndactyly syndrome type 1 (EDSS1) [MIM:613573] PVR P15151 VAR_003952 p.Ala67Thr Polymorphism rs1058402 - PVR P15151 VAR_011736 p.Ile340Met Polymorphism rs203710 - PVR P15151 VAR_049994 p.Ala295Thr Polymorphism rs35365841 - PWP1 Q13610 VAR_033808 p.Leu288Phe Polymorphism rs11547907 - PWP2 Q15269 VAR_028104 p.Asp25Asn Polymorphism rs2020945 - PWP2 Q15269 VAR_028105 p.Phe551Ile Polymorphism rs17856422 - PWP2 Q15269 VAR_053412 p.Glu174Lys Polymorphism rs35001460 - PWWP2B Q6NUJ5 VAR_037233 p.Arg89Cys Polymorphism rs11146363 - PWWP2B Q6NUJ5 VAR_037234 p.Arg98Gly Polymorphism rs10747057 - PXDC1 Q5TGL8 VAR_034643 p.Gln184His Polymorphism rs226959 - PXDC1 Q5TGL8 VAR_034644 p.Pro189Gln Polymorphism rs17855666 - PXDC1 Q5TGL8 VAR_035619 p.Glu203Gln Unclassified - A breast cancer sample PXDNL A1KZ92 VAR_050488 p.Ile343Thr Polymorphism rs7833909 - PXDNL A1KZ92 VAR_050489 p.Arg583Gln Polymorphism rs16916235 - PXDNL A1KZ92 VAR_050490 p.Asp616Ala Polymorphism rs16916207 - PXDNL A1KZ92 VAR_050491 p.Met981Val Polymorphism rs2977020 - PXDNL A1KZ92 VAR_050492 p.Val1327Asp Polymorphism rs11774588 - PXDNL A1KZ92 VAR_050493 p.Arg1399Lys Polymorphism rs7827446 - PXDNL A1KZ92 VAR_050494 p.Asp1452Glu Polymorphism rs1052704 - PXDN Q92626 VAR_039048 p.Gln1261Arg Polymorphism rs6723697 - PXDN Q92626 VAR_050487 p.Arg1198Gln Polymorphism rs6723697 - PXK Q7Z7A4 VAR_033911 p.Ala525Val Polymorphism rs34579268 - PXK Q7Z7A4 VAR_033912 p.Ala535Val Polymorphism rs34579268 - PXK Q7Z7A4 VAR_041362 p.Ile426Val Polymorphism rs55973253 - PXK Q7Z7A4 VAR_041363 p.Lys481Arg Polymorphism rs56384862 - PXMP4 Q9Y6I8 VAR_015426 p.Val204Ile Polymorphism rs910397 - PXN P49023 VAR_065099 p.Ser73Gly Polymorphism rs4767884 - PYCR1 P32322 VAR_059068 p.Arg119Gly Disease - Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059069 p.Arg119His Disease - Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059070 p.Ala179Thr Disease - Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059071 p.Ala189Val Polymorphism - - PYCR1 P32322 VAR_059072 p.Gly206Arg Disease - Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059073 p.Gly206Trp Disease - Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] PYCR1 P32322 VAR_059074 p.Arg251His Disease - Cutis laxa, autosomal recessive, type 3B (ARCL3B) [MIM:614438] PYCR1 P32322 VAR_059075 p.Ala257Thr Disease - Cutis laxa, autosomal recessive, type 3B (ARCL3B) [MIM:614438] PYCR1 P32322 VAR_059076 p.Arg266Gln Disease - Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] PYCRL Q53H96 VAR_039828 p.Arg57Gln Polymorphism rs11549789 - PYCRL Q53H96 VAR_039829 p.Val105Met Polymorphism rs2242089 - PYCRL Q53H96 VAR_039830 p.Asn150Lys Polymorphism rs2242090 - PYDC2 Q56P42 VAR_046150 p.Gln81Arg Polymorphism rs293833 - PYGB P11216 VAR_020212 p.Asp502Asn Polymorphism rs2227891 - PYGB P11216 VAR_034428 p.Ala303Ser Polymorphism rs2228976 - PYGL P06737 VAR_007907 p.Val222Ile Polymorphism rs946616 - PYGL P06737 VAR_007908 p.Asn339Ser Disease - Glycogen storage disease type 6 (GSD6) [MIM:232700] PYGL P06737 VAR_007909 p.Asn377Lys Disease - Glycogen storage disease type 6 (GSD6) [MIM:232700] PYGL P06737 VAR_013095 p.Val231Glu Polymorphism rs1042195 - PYGL P06737 VAR_013096 p.Arg715Ser Polymorphism rs1042210 - PYGL P06737 VAR_034425 p.Arg425Pro Polymorphism rs2228499 - PYGL P06737 VAR_034426 p.Val698Gly Polymorphism rs35831273 - PYGL P06737 VAR_034427 p.Ile806Leu Polymorphism rs34313873 - PYGM P11217 VAR_003431 p.Gly205Ser Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_003432 p.Leu397Pro Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_003433 p.Lys543Thr Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_003434 p.Glu655Lys Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014002 p.Leu116Pro Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014003 p.Arg194Trp Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014004 p.Leu292Pro Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014005 p.Glu349Lys Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014006 p.Thr488Asn Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014007 p.Arg602Trp Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014008 p.Ala660Asp Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014009 p.Gln666Glu Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014010 p.Asn685Tyr Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014011 p.Gly686Arg Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014012 p.Ala687Pro Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014013 p.Ala704Val Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_014015 p.Trp798Arg Disease - Glycogen storage disease type 5 (GSD5) [MIM:232600] PYGM P11217 VAR_061198 p.Arg414Gly Polymorphism rs11231866 - PYGO1 Q9Y3Y4 VAR_051292 p.Pro299His Polymorphism rs11858624 - PYROXD2 Q8N2H3 VAR_026877 p.Pro428Ser Polymorphism rs17856170 - PYROXD2 Q8N2H3 VAR_026878 p.Met461Thr Polymorphism rs2147896 - PYROXD2 Q8N2H3 VAR_026879 p.Ala533Thr Polymorphism rs2296441 - PYY3 Q5JQD4 VAR_044033 p.Thr28Ile Polymorphism rs5953365 - PYY P10082 VAR_006382 p.Thr72Arg Polymorphism rs1058046 - PYY P10082 VAR_047407 p.Arg37Gly Polymorphism rs229969 - PYY P10082 VAR_047408 p.Asp95His Polymorphism rs465407 - PZP P20742 VAR_020005 p.Val813Ala Polymorphism rs2277413 - PZP P20742 VAR_021845 p.Val691Met Polymorphism rs3213832 - PZP P20742 VAR_024358 p.Ile1443Asn Polymorphism rs10842971 - PZP P20742 VAR_034429 p.Leu379Val Polymorphism rs12230214 - PZP P20742 VAR_036235 p.Arg1128His Unclassified - A colorectal cancer sample PZP P20742 VAR_060733 p.Asn857Ser Polymorphism rs3213831 - PZP P20742 VAR_060734 p.Thr1205Pro Polymorphism rs2377741 - PZP P20742 VAR_060982 p.Thr1003Met Polymorphism rs57006764 - n.a. Q0VG73 VAR_044030 p.Ser19Arg Polymorphism rs12629299 - n.a. Q0VG73 VAR_044031 p.Ile63Met Polymorphism rs10936873 - n.a. Q6ZQR6 VAR_046162 p.His7Arg Polymorphism rs485411 - n.a. Q6ZQR6 VAR_046163 p.Ser57Arg Polymorphism rs501764 - n.a. Q6ZQY2 VAR_038923 p.Gly3Arg Polymorphism rs12170538 - n.a. Q6ZQY2 VAR_038924 p.Arg77Cys Polymorphism rs9620774 - n.a. Q6ZRM9 VAR_042676 p.Ala149Val Polymorphism rs12667117 - n.a. Q6ZRM9 VAR_042677 p.Val158Met Polymorphism rs12671601 - n.a. Q6ZRM9 VAR_042678 p.Phe205Leu Polymorphism rs10274643 - n.a. Q6ZRN7 VAR_043457 p.Ala108Gly Polymorphism rs7206805 - n.a. Q6ZRP5 VAR_043569 p.Arg2His Polymorphism rs11944677 - n.a. Q6ZT83 VAR_044010 p.Arg88Trp Polymorphism rs6565904 - n.a. Q6ZTK2 VAR_039362 p.Gln100Arg Polymorphism rs8050530 - n.a. Q6ZTK2 VAR_039363 p.Gln183His Polymorphism rs7206698 - n.a. Q6ZTK2 VAR_039364 p.Val275Ala Polymorphism rs12932948 - n.a. Q6ZTK2 VAR_039365 p.Glu330Gln Polymorphism rs12933868 - n.a. Q6ZTK2 VAR_039366 p.Val345Ile Polymorphism rs13337464 - n.a. Q6ZTK2 VAR_039367 p.Thr368Ala Polymorphism rs4467099 - n.a. Q6ZTK2 VAR_039368 p.Trp419Arg Polymorphism rs4238608 - n.a. Q6ZU11 VAR_037862 p.Ile232Thr Polymorphism rs3828539 - n.a. Q6ZU11 VAR_037863 p.Ser390Leu Polymorphism rs17605622 - n.a. Q6ZU11 VAR_037864 p.Ser518Cys Polymorphism rs3762891 - n.a. Q6ZVL8 VAR_043708 p.Thr30Ala Polymorphism rs8060538 - n.a. Q6ZVL8 VAR_043709 p.Gly75Arg Polymorphism rs8055082 - n.a. Q6ZVL8 VAR_043710 p.Lys82Arg Polymorphism rs9940490 - n.a. Q6ZVL8 VAR_043711 p.Pro105Ser Polymorphism rs8053661 - n.a. Q6ZVL8 VAR_043712 p.Cys136Ser Polymorphism rs8055382 - n.a. Q8IYB0 VAR_044325 p.Asp129Tyr Unclassified - A colorectal cancer sample n.a. Q8N1W0 VAR_039913 p.Asp363Gly Polymorphism rs1040285 - n.a. Q8N1W0 VAR_039914 p.Pro419Ser Polymorphism rs949882 - n.a. Q8N1W0 VAR_039915 p.Val458Ala Polymorphism rs4142466 - n.a. Q8N2B8 VAR_043938 p.Arg127Gln Unclassified - A colorectal cancer sample n.a. Q8N402 VAR_042673 p.Pro97Leu Polymorphism rs12169718 - n.a. Q8N402 VAR_042674 p.Thr114Ser Polymorphism rs6519443 - n.a. Q8N402 VAR_042675 p.Thr131Pro Polymorphism rs6519442 - n.a. Q8N7K9 VAR_050913 p.Ile20Thr Polymorphism rs2108389 - n.a. Q8N7K9 VAR_050914 p.Glu201Gly Polymorphism rs16991953 - n.a. Q8N7K9 VAR_050915 p.Ser214Pro Polymorphism rs8105780 - n.a. Q8N7K9 VAR_050916 p.Ile442Leu Polymorphism rs10411250 - n.a. Q96FF7 VAR_039392 p.Val340Ala Polymorphism rs7258963 - n.a. Q96M66 VAR_039178 p.Arg37His Polymorphism rs350229 - n.a. Q96M66 VAR_039179 p.Arg171Ser Polymorphism rs11648228 - n.a. Q9N2K0 VAR_017799 p.Val81Leu Polymorphism - - n.a. Q9N2K0 VAR_017800 p.Phe150Leu Polymorphism - - QDPR P09417 VAR_006960 p.Gly23Asp Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006961 p.Trp36Arg Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006962 p.Leu74Pro Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006963 p.Trp108Gly Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006965 p.Pro145Leu Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006966 p.Tyr150Cys Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006967 p.Gly151Ser Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006968 p.His158Tyr Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006969 p.Gly170Ser Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_006970 p.Phe212Cys Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_008121 p.Leu14Pro Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_008122 p.Gly17Val Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_013027 p.Ser51Thr Polymorphism - - QDPR P09417 VAR_021767 p.Gly17Arg Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_021768 p.Gly18Asp Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_021769 p.Gln66Arg Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QDPR P09417 VAR_021770 p.Gly149Arg Disease - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] QKI Q96PU8 VAR_036051 p.Arg336Gln Unclassified - A colorectal cancer sample QPCTL Q9NXS2 VAR_034937 p.Pro214Leu Polymorphism rs28708996 - QPCT Q16769 VAR_005569 p.Gln71Arg Polymorphism - - QPCT Q16769 VAR_053956 p.Arg54Trp Polymorphism rs2255991 - QPCT Q16769 VAR_053957 p.His360Pro Polymorphism rs4670696 - QPRT Q15274 VAR_021915 p.Ala158Val Polymorphism rs2303255 - QPRT Q15274 VAR_050219 p.Thr195Ala Polymorphism rs9932770 - QRFP P83859 VAR_049184 p.Leu68His Polymorphism rs12340616 - QRFPR Q96P65 VAR_049437 p.Phe61Val Polymorphism rs17438900 - QRFPR Q96P65 VAR_049438 p.His149Gln Polymorphism rs11947418 - QRFPR Q96P65 VAR_049439 p.Leu344Ser Polymorphism rs2302310 - QRICH2 Q9H0J4 VAR_051295 p.Leu202Ser Polymorphism rs6501880 - QRICH2 Q9H0J4 VAR_051296 p.Ile630Thr Polymorphism rs6501878 - QRICH2 Q9H0J4 VAR_051297 p.His906Tyr Polymorphism rs2279054 - QRICH2 Q9H0J4 VAR_051298 p.His974Arg Polymorphism rs2279053 - QRICH2 Q9H0J4 VAR_051299 p.Glu1036Gln Polymorphism rs2279052 - QRICH2 Q9H0J4 VAR_059711 p.Ile630Val Polymorphism rs6501879 - QRICH2 Q9H0J4 VAR_059712 p.Val681Asp Polymorphism rs6501874 - QRSL1 Q9H0R6 VAR_038389 p.Ala11Val Polymorphism rs36016898 - QRSL1 Q9H0R6 VAR_038390 p.Asn263Ser Polymorphism rs34221917 - QSER1 Q2KHR3 VAR_032535 p.Gln644Arg Polymorphism rs2297781 - QSER1 Q2KHR3 VAR_032536 p.Asn1018Ser Polymorphism rs7940077 - QSER1 Q2KHR3 VAR_032537 p.Asn1304Asp Polymorphism rs16923676 - QSER1 Q2KHR3 VAR_056975 p.Val385Ile Polymorphism rs1022586 - QSOX1 O00391 VAR_027429 p.Asn114Ser Polymorphism rs3894211 - QSOX1 O00391 VAR_027430 p.Gly200Ala Polymorphism rs17855475 - QSOX1 O00391 VAR_027431 p.Arg256Met Polymorphism rs4360492 - QSOX1 O00391 VAR_027432 p.Ala294Ser Polymorphism rs2278943 - QSOX1 O00391 VAR_027433 p.His444Arg Polymorphism rs12371 - QSOX1 O00391 VAR_027434 p.Asn591His Polymorphism rs3738115 - QSOX1 O00391 VAR_053652 p.Arg605Pro Polymorphism rs16855466 - QSOX2 Q6ZRP7 VAR_027435 p.Lys126Glu Polymorphism rs12380852 - R3HCC1L Q7Z5L2 VAR_023092 p.His566Arg Polymorphism rs11189513 - R3HCC1L Q7Z5L2 VAR_023093 p.His656Arg Polymorphism rs1952061 - R3HCC1L Q7Z5L2 VAR_056898 p.Ser113Pro Polymorphism rs12775148 - R3HCC1L Q7Z5L2 VAR_056899 p.Lys238Asn Polymorphism rs7922159 - R3HCC1L Q7Z5L2 VAR_056900 p.Ser261Gly Polymorphism rs35373035 - R3HCC1L Q7Z5L2 VAR_056901 p.Asp535Ala Polymorphism rs34494334 - R3HCC1L Q7Z5L2 VAR_061652 p.Pro546Ser Polymorphism rs35122894 - R3HCC1 Q9Y3T6 VAR_035420 p.Ala136Thr Polymorphism rs6980542 - R3HCC1 Q9Y3T6 VAR_035421 p.Arg185Lys Polymorphism rs3808536 - R3HCC1 Q9Y3T6 VAR_035422 p.Val347Met Polymorphism rs2272761 - R3HCC1 Q9Y3T6 VAR_035423 p.Leu403Arg Polymorphism rs13530 - R3HDM1 Q15032 VAR_025423 p.Met270Val Polymorphism rs961360 - R3HDM1 Q15032 VAR_025424 p.Gln632Pro Polymorphism rs2305165 - R3HDM2 Q9Y2K5 VAR_059713 p.Thr35Ala Polymorphism rs11832661 - R3HDML Q9H3Y0 VAR_032339 p.Phe15Cys Polymorphism rs11699901 - R3HDML Q9H3Y0 VAR_048834 p.Asp68Asn Polymorphism rs36117710 - RAB11FIP1 Q6WKZ4 VAR_022447 p.Met1185Thr Polymorphism rs7817179 - RAB11FIP1 Q6WKZ4 VAR_056977 p.Ala768Val Polymorphism rs16887092 - RAB11FIP1 Q6WKZ4 VAR_059714 p.Val651Ala Polymorphism rs12541651 - RAB11FIP2 Q7L804 VAR_051316 p.Phe152Val Polymorphism rs34028100 - RAB14 P61106 VAR_012986 p.Ala4Thr Polymorphism - - RAB17 Q9H0T7 VAR_022102 p.Leu191Pro Polymorphism rs2280289 - RAB17 Q9H0T7 VAR_051711 p.Val19Ala Polymorphism rs3751112 - RAB17 Q9H0T7 VAR_051712 p.Ser184Gly Polymorphism rs34311889 - RAB18 Q9NP72 VAR_034432 p.Ala198Thr Polymorphism rs11015859 - RAB18 Q9NP72 VAR_051713 p.Asn113Ser Polymorphism rs12268932 - RAB20 Q9NX57 VAR_017158 p.Asn134Ser Polymorphism rs426453 - RAB23 Q9ULC3 VAR_017159 p.Gly207Ser Polymorphism rs1040461 - RAB23 Q9ULC3 VAR_034901 p.Lys40Arg Polymorphism rs45442500 - RAB23 Q9ULC3 VAR_034902 p.Cys85Arg Disease - Carpenter syndrome 1 (CRPT1) [MIM:201000] RAB23 Q9ULC3 VAR_034903 p.Ser101Ala Polymorphism rs45479896 - RAB23 Q9ULC3 VAR_065294 p.Met12Lys Disease - Carpenter syndrome 1 (CRPT1) [MIM:201000] RAB27A P51159 VAR_010654 p.Trp73Gly Disease rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624] RAB27A P51159 VAR_011334 p.Leu130Pro Disease - Griscelli syndrome type 2 (GS2) [MIM:607624] RAB27A P51159 VAR_011335 p.Ala152Pro Disease - Griscelli syndrome type 2 (GS2) [MIM:607624] RAB27A P51159 VAR_028206 p.Thr62Ser Polymorphism rs1050930 - RAB27A P51159 VAR_028207 p.Leu84Phe Polymorphism rs4340274 - RAB27A P51159 VAR_028208 p.Thr85Pro Polymorphism rs719705 - RAB27B O00194 VAR_051714 p.Ala92Thr Polymorphism rs9966265 - RAB2B Q8WUD1 VAR_051709 p.Asn212Thr Polymorphism rs17106411 - RAB33A Q14088 VAR_006849 p.Met102Thr Polymorphism - - RAB34 Q9BZG1 VAR_015097 p.Val197Leu Polymorphism rs12125 - RAB36 O95755 VAR_024189 p.Asn308Asp Polymorphism rs5759612 - RAB36 O95755 VAR_034433 p.Pro50Leu Polymorphism rs9624036 - RAB36 O95755 VAR_051715 p.Glu320Lys Polymorphism rs9624038 - RAB37 Q96AX2 VAR_034434 p.Ala188Pro Polymorphism rs34215331 - RAB38 P57729 VAR_036415 p.Lys111Thr Unclassified - A colorectal cancer sample RAB3D O95716 VAR_051710 p.Val64Ile Polymorphism rs3969860 - RAB3GAP1 Q15042 VAR_051716 p.Asn598Ser Polymorphism rs10445686 - RAB3GAP2 Q9H2M9 VAR_021588 p.Thr863Ala Polymorphism rs12045447 - RAB3GAP2 Q9H2M9 VAR_021589 p.Ser1092Thr Polymorphism rs2289189 - RAB3GAP2 Q9H2M9 VAR_029881 p.Gly1052Cys Disease - Martsolf syndrome (MARTS) [MIM:212720] RAB3IL1 Q8TBN0 VAR_035203 p.Gln49Arg Polymorphism rs174477 - RAB3IL1 Q8TBN0 VAR_035204 p.His323Tyr Polymorphism rs3815045 - RAB40A Q8WXH6 VAR_034435 p.His45Leu Polymorphism rs1180895 - RAB5C P51148 VAR_036414 p.Arg40His Unclassified - A colorectal cancer sample RAB6C Q9H0N0 VAR_038161 p.Ala159Thr Polymorphism - - RAB7A P51149 VAR_018722 p.Leu129Phe Disease rs121909078 Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882] RAB7A P51149 VAR_018723 p.Val162Met Disease rs121909079 Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882] RAB7A P51149 VAR_037886 p.Lys32Glu Polymorphism rs11549759 - RAB7A P51149 VAR_037887 p.Lys157Asn Disease rs121909081 Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882] RAB7A P51149 VAR_037888 p.Asn161Thr Disease rs121909080 Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882] RABEP1 Q15276 VAR_028106 p.Glu640Gly Polymorphism rs3026099 - RABEPK Q7Z6M1 VAR_031175 p.Arg60Gly Polymorphism rs17855990 - RABEPK Q7Z6M1 VAR_031176 p.Thr67Pro Polymorphism rs13302050 - RABEPK Q7Z6M1 VAR_031177 p.His73Tyr Polymorphism rs16927965 - RABEPK Q7Z6M1 VAR_031178 p.Asp313Gly Polymorphism rs17849326 - RABEPK Q7Z6M1 VAR_031179 p.Met333Ile Polymorphism rs15233 - RABEPK Q7Z6M1 VAR_050058 p.Pro58Ala Polymorphism rs13302059 - RABEPK Q7Z6M1 VAR_050059 p.Ser95Cys Polymorphism rs34991596 - RABGAP1L Q5R372 VAR_052533 p.Ser277Gly Polymorphism rs7339904 - RABGGTA Q92696 VAR_020406 p.Thr420Ala Polymorphism rs729421 - RABL6 Q3YEC7 VAR_030210 p.Glu382Gln Polymorphism rs2811741 - RAC1 P63000 VAR_014540 p.Asn26Asp Polymorphism rs5830 - RAC1 P63000 VAR_014541 p.Phe28Leu Polymorphism rs5832 - RAC1 P63000 VAR_014542 p.Ala59Thr Polymorphism rs5837 - RAC1 P63000 VAR_014543 p.Asp63Gly Polymorphism rs5831 - RAC1 P63000 VAR_014544 p.Val93Ile Polymorphism rs5825 - RAC1 P63000 VAR_014545 p.Val93Gly Polymorphism rs5826 - RAC1 P63000 VAR_014546 p.Thr108Ile Polymorphism rs5838 - RAC1 P63000 VAR_014547 p.Lys130Arg Polymorphism rs5828 - RAC1 P63000 VAR_014548 p.Lys133Glu Polymorphism rs5835 - RAC1 P63000 VAR_014549 p.Pro180Ser Polymorphism rs16063 - RAC1 P63000 VAR_014550 p.Val182Glu Polymorphism rs5836 - RAC1 P63000 VAR_033303 p.Thr135Ile Polymorphism rs11540455 - RAC2 P15153 VAR_017452 p.Asp57Asn Disease - Neutrophil immunodeficiency syndrome (NEUID) [MIM:608203] RAC2 P15153 VAR_036569 p.Pro29Leu Unclassified - A breast cancer sample RAD17 O75943 VAR_021574 p.Val32Ile Polymorphism rs17229831 - RAD17 O75943 VAR_021575 p.Arg487Leu Polymorphism rs17236478 - RAD17 O75943 VAR_021576 p.Lys535Glu Polymorphism rs17236485 - RAD17 O75943 VAR_021577 p.Leu557Arg Polymorphism rs1045051 - RAD18 Q9NS91 VAR_023423 p.Glu6Ala Polymorphism rs45520133 - RAD18 Q9NS91 VAR_023424 p.Arg302Gln Polymorphism rs373572 - RAD18 Q9NS91 VAR_023425 p.Ile307Val Polymorphism rs45569933 - RAD1 O60671 VAR_051718 p.Ala33Gly Polymorphism rs2308951 - RAD1 O60671 VAR_051719 p.Thr104Ser Polymorphism rs1805328 - RAD1 O60671 VAR_051720 p.Gly114Asp Polymorphism rs2308957 - RAD1 O60671 VAR_051721 p.Glu281Gly Polymorphism rs1805327 - RAD1 O60671 VAR_055376 p.His39Gln Polymorphism rs41271673 - RAD21L1 Q9H4I0 VAR_064917 p.Cys90Arg Polymorphism rs450739 - RAD21L1 Q9H4I0 VAR_064918 p.Ile152Leu Polymorphism rs203534 - RAD21L1 Q9H4I0 VAR_064919 p.His423Pro Polymorphism rs17717241 - RAD21 O60216 VAR_014281 p.Gly481Arg Polymorphism - - RAD23A P54725 VAR_016251 p.Thr131Ala Polymorphism rs11558955 - RAD23A P54725 VAR_016252 p.Thr200Met Polymorphism rs4987202 - RAD23A P54725 VAR_020377 p.Arg179Gln Polymorphism rs4987203 - RAD23B P54727 VAR_014350 p.Ala249Val Polymorphism rs1805329 - RAD26L Q5T890 VAR_039987 p.Val592Ala Polymorphism rs2274654 - RAD50 Q92878 VAR_020958 p.Lys616Glu Polymorphism rs1047380 - RAD50 Q92878 VAR_020959 p.Val697Ala Polymorphism rs1047382 - RAD50 Q92878 VAR_020960 p.Tyr964His Polymorphism rs1047386 - RAD50 Q92878 VAR_020961 p.Lys973Met Polymorphism rs1129482 - RAD50 Q92878 VAR_020962 p.Arg1038Gly Polymorphism rs1047387 - RAD50 Q92878 VAR_022085 p.Thr191Ile Polymorphism rs2230017 - RAD50 Q92878 VAR_025526 p.Ile94Leu Polymorphism rs28903085 - RAD50 Q92878 VAR_025527 p.Arg224His Polymorphism rs28903088 - RAD50 Q92878 VAR_029168 p.Val127Ile Polymorphism rs28903086 - RAD50 Q92878 VAR_029169 p.Arg193Trp Polymorphism rs28903087 - RAD50 Q92878 VAR_029170 p.Val842Ala Polymorphism rs28903093 - RAD50 Q92878 VAR_034436 p.Val315Leu Polymorphism rs28903090 - RAD50 Q92878 VAR_061779 p.Gly469Ala Polymorphism rs55653181 - RAD51AP1 Q96B01 VAR_056976 p.Lys68Gln Polymorphism rs34810644 - RAD51AP2 Q09MP3 VAR_043478 p.Val876Leu Polymorphism rs17380212 - RAD51AP2 Q09MP3 VAR_043479 p.Arg976His Polymorphism rs17314548 - RAD51AP2 Q09MP3 VAR_043480 p.Gly1037Asp Polymorphism rs834514 - RAD51B O15315 VAR_025243 p.Val9Met Polymorphism rs34583846 - RAD51B O15315 VAR_025244 p.Phe82Cys Polymorphism rs35282642 - RAD51B O15315 VAR_025245 p.Leu172Trp Polymorphism rs34094401 - RAD51B O15315 VAR_025246 p.Tyr180Cys Polymorphism rs28910275 - RAD51B O15315 VAR_025247 p.Lys243Arg Polymorphism rs34594234 - RAD51B O15315 VAR_025248 p.Ser250Ala Polymorphism rs33929366 - RAD51B O15315 VAR_035437 p.Val207Leu Polymorphism rs28908168 - RAD51B O15315 VAR_051730 p.Pro365Arg Polymorphism rs28908468 - RAD51C O43502 VAR_020518 p.Ile144Thr Polymorphism rs28363307 - RAD51C O43502 VAR_020519 p.Arg249Cys Polymorphism rs28363311 - RAD51C O43502 VAR_020520 p.Thr287Ala Disease rs28363317 Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399] RAD51C O43502 VAR_063837 p.Gly3Arg Polymorphism - - RAD51C O43502 VAR_063838 p.Gly125Val Disease - Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399] RAD51C O43502 VAR_063839 p.Ala126Thr Polymorphism rs61758784 - RAD51C O43502 VAR_063840 p.Leu138Phe Disease - Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399] RAD51C O43502 VAR_063841 p.Asp159Asn Polymorphism - - RAD51C O43502 VAR_063842 p.Val169Ala Polymorphism - - RAD51C O43502 VAR_063843 p.Gly264Ser Polymorphism rs147241704 - RAD51C O43502 VAR_063844 p.Gly264Val Polymorphism - - RAD51C O43502 VAR_063845 p.Arg366Gln Polymorphism - - RAD51C O43502 VAR_064032 p.Arg258His Disease - Fanconi anemia complementation group O (FANCO) [MIM:613390] RAD51D O75771 VAR_020560 p.Arg24Ser Polymorphism rs28363257 - RAD51D O75771 VAR_020561 p.Arg165Gln Polymorphism rs4796033 - RAD51D O75771 VAR_020562 p.Ala225Thr Polymorphism rs28363282 - RAD51D O75771 VAR_020563 p.Arg232Gln Polymorphism rs28363283 - RAD51D O75771 VAR_020564 p.Glu233Gly Polymorphism rs28363284 - RAD51 Q06609 VAR_010899 p.Arg150Gln Disease - Breast cancer (BC) [MIM:114480] RAD52 P43351 VAR_019218 p.Arg70Trp Polymorphism rs11571421 - RAD52 P43351 VAR_019219 p.Gln221Glu Polymorphism rs4987206 - RAD52 P43351 VAR_019220 p.Ser287Asn Polymorphism rs11571463 - RAD54B Q9Y620 VAR_019563 p.Asp418Tyr Unclassified - A colon cancer sample RAD54B Q9Y620 VAR_019564 p.Asn593Ser Unclassified - A non-Hodgkin lymphoma sample RAD54B Q9Y620 VAR_034430 p.Leu30Val Polymorphism rs28910279 - RAD54B Q9Y620 VAR_037885 p.Asp97His Polymorphism rs2919661 - RAD54L2 Q9Y4B4 VAR_038302 p.Phe1369Leu Polymorphism rs35712917 - RAD54L Q92698 VAR_019559 p.Pro63His Unclassified - A colon adenocarcinoma sample RAD54L Q92698 VAR_019560 p.Lys151Glu Polymorphism rs2295466 - RAD54L Q92698 VAR_019561 p.Gly325Arg Unclassified - A breast cancer sample RAD54L Q92698 VAR_019562 p.Val444Glu Unclassified - A non-Hodgkin lymphoma sample RAD54L Q92698 VAR_055363 p.Asp21Gly Polymorphism rs28363192 - RAD54L Q92698 VAR_055364 p.Ile74Met Polymorphism rs28363209 - RAD54L Q92698 VAR_055365 p.Arg202Cys Polymorphism rs28363218 - RAD54L Q92698 VAR_055366 p.Arg380Gln Polymorphism rs28363234 - RAD54L Q92698 VAR_055367 p.Arg534Cys Polymorphism rs28363240 - RAD54L Q92698 VAR_055368 p.Ile583Thr Polymorphism rs28363243 - RAD9A Q99638 VAR_025410 p.Cys3Phe Polymorphism - - RAD9A Q99638 VAR_025411 p.Ser100Ala Polymorphism rs2066492 - RAD9A Q99638 VAR_025412 p.His239Arg Polymorphism rs17880039 - RAD9A Q99638 VAR_025413 p.Met307Thr Polymorphism rs17882466 - RAD9A Q99638 VAR_051724 p.Leu71Gln Polymorphism rs2422490 - RADIL Q96JH8 VAR_023769 p.Ser886Gly Polymorphism rs414035 - RADIL Q96JH8 VAR_046192 p.Asp239Asn Polymorphism rs3763384 - RADIL Q96JH8 VAR_046193 p.His412Asp Polymorphism rs2292498 - RADIL Q96JH8 VAR_060193 p.Leu938Pro Polymorphism rs6966329 - RAET1E Q8TD07 VAR_020271 p.Tyr82Asn Polymorphism rs2151910 - RAET1E Q8TD07 VAR_024534 p.Arg12His Polymorphism rs9383583 - RAET1E Q8TD07 VAR_024535 p.Arg128His Polymorphism rs6925151 - RAET1E Q8TD07 VAR_024536 p.Val237Leu Polymorphism rs2342767 - RAET1E Q8TD07 VAR_050408 p.Ala141Thr Polymorphism rs9383921 - RAET1E Q8TD07 VAR_050409 p.Thr142Ile Polymorphism rs9371533 - RAET1E Q8TD07 VAR_061483 p.Arg194Gly Polymorphism rs57292884 - RAET1G Q6H3X3 VAR_033449 p.Thr70Arg Polymorphism rs9397449 - RAET1L Q5VY80 VAR_039183 p.Arg26Gly Polymorphism rs1543547 - RAET1L Q5VY80 VAR_039184 p.Met85Thr Polymorphism rs912565 - RAET1L Q5VY80 VAR_039185 p.Leu106Arg Polymorphism rs1555696 - RAF1 P04049 VAR_018840 p.Pro308Leu Polymorphism rs5746220 - RAF1 P04049 VAR_037807 p.Arg256Ser Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037808 p.Ser257Leu Disease - LEOPARD syndrome type 2 (LEOPARD2) [MIM:611554] RAF1 P04049 VAR_037808 p.Ser257Leu Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037809 p.Ser259Phe Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037810 p.Thr260Ile Unclassified - - RAF1 P04049 VAR_037811 p.Thr260Arg Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037812 p.Pro261Ala Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037813 p.Pro261Leu Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037814 p.Pro261Ser Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037815 p.Val263Ala Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037816 p.Asp486Gly Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037817 p.Asp486Asn Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037818 p.Thr491Ile Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037819 p.Thr491Arg Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037820 p.Ser612Thr Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_037821 p.Leu613Val Disease - LEOPARD syndrome type 2 (LEOPARD2) [MIM:611554] RAF1 P04049 VAR_037821 p.Leu613Val Disease - Noonan syndrome type 5 (NS5) [MIM:611553] RAF1 P04049 VAR_041037 p.Ser259Ala Unclassified - An ovarian serous carcinoma sample RAF1 P04049 VAR_041038 p.Gln335His Unclassified - A lung adenocarcinoma sample RAG1 P15918 VAR_007800 p.Ala156Val Polymorphism rs1801203 - RAG1 P15918 VAR_007801 p.Arg244Gly Polymorphism rs199474683 - RAG1 P15918 VAR_007802 p.His249Arg Polymorphism rs3740955 - RAG1 P15918 VAR_007803 p.Arg624His Disease rs199474680 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG1 P15918 VAR_007804 p.Glu722Lys Disease rs28933392 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG1 P15918 VAR_008886 p.Arg396Cys Disease rs104894289 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008887 p.Arg396His Disease rs104894291 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008888 p.Asp429Gly Disease rs104894292 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008889 p.Arg561His Disease rs104894284 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008890 p.Arg561Cys Disease rs104894285 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008891 p.Arg737His Disease rs104894286 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG1 P15918 VAR_008891 p.Arg737His Disease rs104894286 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008892 p.Lys820Arg Polymorphism rs2227973 - RAG1 P15918 VAR_008893 p.Leu885Arg Disease rs199474691 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_008894 p.Tyr912Cys Disease rs104894290 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_020113 p.Asp302Glu Polymorphism rs4151030 - RAG1 P15918 VAR_020114 p.Glu880Lys Polymorphism rs4151033 - RAG1 P15918 VAR_025971 p.Cys328Tyr Disease rs121918571 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025972 p.Arg396Leu Disease rs104894291 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025973 p.Ser401Pro Disease rs199474682 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025974 p.Arg410Gln Polymorphism rs199474684 - RAG1 P15918 VAR_025975 p.Val433Met Disease rs199474679 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG1 P15918 VAR_025976 p.Met435Val Disease rs141524540 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025977 p.Ala444Val Polymorphism rs199474685 - RAG1 P15918 VAR_025978 p.Arg474His Polymorphism rs199474686 - RAG1 P15918 VAR_025979 p.Arg507Trp Disease rs104894298 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG1 P15918 VAR_025980 p.Trp522Cys Polymorphism rs193922461 - RAG1 P15918 VAR_025981 p.Arg559Ser Disease rs199474681 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025981 p.Arg559Ser Disease rs199474681 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG1 P15918 VAR_025982 p.Arg624Cys Disease rs199474688 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025983 p.Glu669Gly Disease rs199474689 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025984 p.His753Leu Polymorphism rs199474687 - RAG1 P15918 VAR_025985 p.Arg841Trp Disease rs104894287 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889] RAG1 P15918 VAR_025986 p.Asn855Ile Polymorphism rs199474690 - RAG1 P15918 VAR_025987 p.Arg975Gln Disease rs150739647 Omenn syndrome (OS) [MIM:603554] RAG1 P15918 VAR_025988 p.Gln981Pro Disease rs104894288 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889] RAG1 P15918 VAR_029260 p.Ser169Leu Polymorphism rs4151027 - RAG1 P15918 VAR_029261 p.Arg247His Polymorphism rs4151029 - RAG1 P15918 VAR_029262 p.Arg449Lys Polymorphism rs4151031 - RAG1 P15918 VAR_029263 p.Pro525Ser Polymorphism rs4151032 - RAG1 P15918 VAR_029264 p.Asp887Asn Polymorphism rs4151034 - RAG1 P15918 VAR_045957 p.Arg314Trp Disease rs121918568 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG1 P15918 VAR_045958 p.Arg778Gln Disease rs121918569 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG1 P15918 VAR_045959 p.Arg975Trp Disease rs121918570 Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG2 P55895 VAR_005570 p.Arg229Gln Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG2 P55895 VAR_005571 p.Cys478Tyr Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] RAG2 P55895 VAR_008895 p.Cys41Trp Disease - Omenn syndrome (OS) [MIM:603554] RAG2 P55895 VAR_008896 p.Met285Arg Disease - Omenn syndrome (OS) [MIM:603554] RAG2 P55895 VAR_045960 p.Thr77Asn Disease - Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAG2 P55895 VAR_045961 p.Glu293Gly Polymorphism rs16929093 - RAG2 P55895 VAR_045962 p.Gly451Ala Disease - Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] RAI14 Q9P0K7 VAR_026673 p.Ala44Thr Polymorphism rs17521570 - RAI14 Q9P0K7 VAR_055517 p.Ser45Asn Polymorphism rs35941954 - RAI14 Q9P0K7 VAR_055518 p.Val499Leu Polymorphism rs10472941 - RAI14 Q9P0K7 VAR_055519 p.Ala870Ser Polymorphism rs1048944 - RAI1 Q7Z5J4 VAR_024344 p.Pro165Thr Polymorphism rs11649804 - RAI1 Q7Z5J4 VAR_051300 p.Gly90Ala Polymorphism rs3803763 - RAI1 Q7Z5J4 VAR_051301 p.Gln939Pro Polymorphism rs1759075 - RAI2 Q9Y5P3 VAR_046100 p.Met252Val Polymorphism rs6527818 - RAI2 Q9Y5P3 VAR_046101 p.Ala342Pro Polymorphism rs17855524 - RALBP1 Q15311 VAR_049147 p.Ala617Val Polymorphism rs35867116 - RALGAPA1 Q6GYQ0 VAR_019804 p.Thr931Ala Polymorphism rs2274068 - RALGAPA2 Q2PPJ7 VAR_049157 p.Ser492Asn Polymorphism rs6137081 - RALGDS Q12967 VAR_035822 p.Arg496Leu Unclassified - A colorectal cancer sample RALGPS1 Q5JS13 VAR_061785 p.Ser290Asn Polymorphism rs55918931 - RALGPS2 Q86X27 VAR_039468 p.Asn225Ser Polymorphism rs35161510 - RALY Q9UKM9 VAR_015223 p.Gln215Arg Polymorphism rs3180568 - RALY Q9UKM9 VAR_015224 p.Gly251Ser Polymorphism rs2281209 - RALY Q9UKM9 VAR_052215 p.Val139Met Polymorphism rs35191085 - RAMP3 O60896 VAR_024602 p.Trp56Arg Polymorphism rs2074654 - RAMP3 O60896 VAR_034437 p.Gly26Asp Polymorphism rs10272187 - RAMP3 O60896 VAR_053628 p.Met33Leu Polymorphism rs11550711 - RANBP1 P43487 VAR_036567 p.Glu16Asp Unclassified - A breast cancer sample RANBP1 P43487 VAR_053629 p.Ala145Val Polymorphism rs5746863 - RANBP2 P49792 VAR_014886 p.Pro1892Ala Polymorphism rs12770 - RANBP2 P49792 VAR_023939 p.Arg784Lys Polymorphism rs2912838 - RANBP2 P49792 VAR_029765 p.Val548Leu Polymorphism rs1057954 - RANBP2 P49792 VAR_029766 p.Glu580Lys Polymorphism rs4012065 - RANBP2 P49792 VAR_029767 p.Cys581Tyr Polymorphism rs1057957 - RANBP2 P49792 VAR_029768 p.Pro1870Leu Polymorphism rs2889846 - RANBP2 P49792 VAR_050575 p.Ser725Gly Polymorphism rs17414315 - RANBP2 P49792 VAR_050576 p.Pro1892Arg Polymorphism rs12770 - RANBP2 P49792 VAR_054997 p.Thr585Met Disease - Encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033] RANBP2 P49792 VAR_054998 p.Thr653Ile Disease - Encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033] RANBP2 P49792 VAR_054999 p.Ile656Val Disease - Encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033] RANBP3L Q86VV4 VAR_037557 p.Thr70Arg Polymorphism rs1035480 - RANBP3L Q86VV4 VAR_037558 p.Ala111Asp Polymorphism rs35433829 - RANBP3L Q86VV4 VAR_037559 p.Ala271Val Polymorphism rs16902872 - RANBP3 Q9H6Z4 VAR_051303 p.Ala314Val Polymorphism rs10417885 - RANGAP1 P46060 VAR_029240 p.Glu133Gln Polymorphism rs2229752 - RAN P62826 VAR_051900 p.Arg95Ile Polymorphism rs11546488 - RAP1GAP2 Q684P5 VAR_037553 p.Leu202Met Polymorphism rs17762452 - RAP1GAP P47736 VAR_035547 p.Cys257Arg Unclassified - A breast cancer sample RAP1GAP P47736 VAR_035548 p.Tyr609Cys Unclassified - A breast cancer sample RAP1GAP P47736 VAR_047792 p.Ala107Thr Polymorphism rs2275363 - RAP1GDS1 P52306 VAR_049158 p.Lys314Glu Polymorphism rs34392334 - RAPGEF3 O95398 VAR_047924 p.Ala16Pro Polymorphism rs11168230 - RAPGEF3 O95398 VAR_047925 p.Arg193Gly Polymorphism rs2016123 - RAPGEF3 O95398 VAR_047926 p.Gly374Ser Polymorphism rs12422983 - RAPGEF3 O95398 VAR_061784 p.Cys517Tyr Polymorphism rs61709815 - RAPGEF6 Q8TEU7 VAR_057168 p.Ser570Ala Polymorphism rs3756293 - RAPGEF6 Q8TEU7 VAR_057169 p.Ala594Pro Polymorphism rs34112735 - RAPGEF6 Q8TEU7 VAR_057170 p.Ile1353Val Polymorphism rs7717835 - RAPGEF6 Q8TEU7 VAR_057171 p.Val1559Glu Polymorphism rs1064539 - RAPGEF6 Q8TEU7 VAR_059793 p.Gln1452Arg Polymorphism rs1291602 - RAPH1 Q70E73 VAR_036009 p.Ala891Ser Unclassified - A breast cancer sample RAPH1 Q70E73 VAR_036010 p.Thr1228Ala Unclassified - A breast cancer sample RAPSN Q13702 VAR_021216 p.Leu14Pro Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] RAPSN Q13702 VAR_021217 p.Asn88Lys Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] RAPSN Q13702 VAR_043897 p.Gln8Lys Polymorphism rs11556408 - RAPSN Q13702 VAR_043898 p.Val45Met Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] RAPSN Q13702 VAR_043899 p.Phe139Ser Disease - Fetal akinesia deformation sequence (FADS) [MIM:208150] RAPSN Q13702 VAR_043900 p.Glu162Lys Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] RAPSN Q13702 VAR_043901 p.Arg164Cys Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] RAPSN Q13702 VAR_043902 p.Ala189Val Disease - Fetal akinesia deformation sequence (FADS) [MIM:208150] RAPSN Q13702 VAR_043903 p.Leu283Pro Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] RAPSN Q13702 VAR_062142 p.Phe81Leu Polymorphism rs57878668 - RARB P10826 VAR_036060 p.Val90Ile Unclassified - A colorectal cancer sample RARG P13631 VAR_036061 p.Gly430Ser Unclassified - A breast cancer sample RARG P13631 VAR_038554 p.Ser427Leu Polymorphism rs2229774 - RARRES1 P49788 VAR_053612 p.Asp158Val Polymorphism rs11919919 - RARRES1 P49788 VAR_060094 p.Asp42Gly Polymorphism rs7621322 - RARRES3 Q9UL19 VAR_049480 p.Val69Leu Polymorphism rs35502888 - RARRES3 Q9UL19 VAR_049481 p.Ala162Val Polymorphism rs35845275 - RARS2 Q5T160 VAR_037800 p.Lys291Arg Polymorphism rs17850652 - RARS2 Q5T160 VAR_037801 p.Ile331Val Polymorphism rs3757370 - RARS2 Q5T160 VAR_037802 p.Asp367Gly Polymorphism rs1108758 - RARS P54136 VAR_020106 p.Val3Ile Polymorphism rs244903 - RARS P54136 VAR_020107 p.Phe397Tyr Polymorphism rs2305734 - RARS P54136 VAR_052635 p.Arg135Gly Polymorphism rs1059443 - RASA1 P20936 VAR_002650 p.Arg398Leu Unclassified - Basal cell carcinomas RASA1 P20936 VAR_002651 p.Lys400Glu Unclassified - Basal cell carcinomas RASA1 P20936 VAR_002652 p.Ile401Val Unclassified - Basal cell carcinomas RASA1 P20936 VAR_017744 p.Cys540Tyr Disease - Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354] RASA4 O43374 VAR_027680 p.Met352Val Polymorphism rs746316 - RASA4 O43374 VAR_027681 p.Arg432Pro Polymorphism rs886346 - RASA4 O43374 VAR_027682 p.Tyr731Cys Polymorphism rs1060228 - RASAL1 O95294 VAR_031665 p.Val11Leu Polymorphism rs7960087 - RASAL1 O95294 VAR_031666 p.Thr58Met Polymorphism rs34598602 - RASAL1 O95294 VAR_031667 p.Arg321His Polymorphism rs1284879 - RASAL2 Q9UJF2 VAR_035541 p.Arg165Trp Unclassified - A colorectal cancer sample RASAL2 Q9UJF2 VAR_035542 p.Glu379Asp Unclassified - A breast cancer sample RASAL3 Q86YV0 VAR_061179 p.Leu251Val Polymorphism rs58123634 - RASAL3 Q86YV0 VAR_061180 p.Arg594Cys Polymorphism rs56209154 - RASAL3 Q86YV0 VAR_061181 p.Pro825Thr Polymorphism rs57208996 - RASEF Q8IZ41 VAR_034858 p.Arg262Cys Polymorphism rs4146960 - RASGRF2 O14827 VAR_037595 p.Arg114His Unclassified - A colorectal cancer sample RASGRF2 O14827 VAR_037596 p.Asp538Asn Unclassified - A breast cancer sample RASGRF2 O14827 VAR_037597 p.Leu713Trp Polymorphism rs16878472 - RASGRF2 O14827 VAR_037598 p.Asp1216Glu Unclassified - A breast cancer sample RASGRP2 Q7LDG7 VAR_038257 p.Gly493Ala Polymorphism rs2301562 - RASGRP3 Q8IV61 VAR_051901 p.Thr393Ala Polymorphism rs13388394 - RASGRP4 Q8TDF6 VAR_038144 p.Ile18Thr Polymorphism rs892055 - RASGRP4 Q8TDF6 VAR_038145 p.Gln120Leu Polymorphism - - RASGRP4 Q8TDF6 VAR_038146 p.Val145Ala Polymorphism - - RASGRP4 Q8TDF6 VAR_038147 p.Arg261Cys Polymorphism - - RASGRP4 Q8TDF6 VAR_038148 p.Arg335Gly Polymorphism - - RASGRP4 Q8TDF6 VAR_057172 p.Glu620Lys Polymorphism rs34377632 - RASIP1 Q5U651 VAR_051302 p.Arg601Cys Polymorphism rs2287922 - RASL10B Q96S79 VAR_036309 p.Val52Met Unclassified - A breast cancer sample RASSF10 A6NK89 VAR_042999 p.Gln194His Polymorphism rs4323847 - RASSF1 Q9NS23 VAR_019542 p.Lys21Gln Polymorphism rs4688725 - RASSF1 Q9NS23 VAR_019543 p.Arg53Cys Polymorphism - - RASSF1 Q9NS23 VAR_019544 p.Asp133Glu Polymorphism - - RASSF1 Q9NS23 VAR_019545 p.Ser135Phe Unclassified - - RASSF1 Q9NS23 VAR_019546 p.Ala137Ser Polymorphism rs2073498 - RASSF1 Q9NS23 VAR_019547 p.Tyr329Cys Polymorphism - - RASSF1 Q9NS23 VAR_059794 p.His319Arg Polymorphism rs12488879 - RASSF2 P50749 VAR_035825 p.Arg144His Unclassified - A colorectal cancer sample RASSF3 Q86WH2 VAR_026724 p.Arg232His Polymorphism - - RASSF4 Q9H2L5 VAR_034438 p.His10Tyr Polymorphism rs34692238 - RASSF4 Q9H2L5 VAR_034439 p.Arg88Gly Polymorphism rs870957 - RASSF6 Q6ZTQ3 VAR_026725 p.Ser163Pro Polymorphism rs12507775 - RASSF6 Q6ZTQ3 VAR_034440 p.Ala306Gly Polymorphism rs17804499 - RASSF7 Q02833 VAR_021859 p.Pro89Ala Polymorphism rs2242183 - RASSF7 Q02833 VAR_021860 p.Arg156Gln Polymorphism rs2242182 - RASSF9 O75901 VAR_034820 p.Ala285Thr Polymorphism rs7397266 - RAX2 Q96IS3 VAR_031907 p.Arg87Gln Disease - Age-related macular degeneration type 6 (ARMD6) [MIM:613757] RAX2 Q96IS3 VAR_031908 p.Gly137Arg Disease - Cone-rod dystrophy type 11 (CORD11) [MIM:610381] RAX Q9Y2V3 VAR_020150 p.Asp44Glu Polymorphism rs2271733 - RAX Q9Y2V3 VAR_034905 p.Arg192Gln Disease - Microphthalmia isolated type 3 (MCOP3) [MIM:611038] RB1CC1 Q8TDY2 VAR_023776 p.Met234Thr Polymorphism rs17337252 - RB1CC1 Q8TDY2 VAR_033031 p.Arg1514Cys Unclassified - A breast cancer sample RB1CC1 Q8TDY2 VAR_051309 p.Pro708Leu Polymorphism rs34016926 - RB1CC1 Q8TDY2 VAR_051310 p.Arg1216Lys Polymorphism rs35534432 - RB1CC1 Q8TDY2 VAR_051311 p.Asn1314Lys Polymorphism rs34701924 - RB1CC1 Q8TDY2 VAR_051312 p.Ser1424Phe Polymorphism rs35342973 - RB1 P06400 VAR_005572 p.Glu72Gln Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005573 p.Glu137Asp Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005574 p.Ile185Thr Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005575 p.Arg358Gln Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005576 p.Met457Arg Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005578 p.His549Tyr Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005579 p.Ser567Leu Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005580 p.Ala635Pro Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005581 p.Val654Glu Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005582 p.Arg661Trp Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005583 p.Leu662Pro Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005584 p.His673Pro Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005585 p.Gln685Pro Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005586 p.Cys706Tyr Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005587 p.Cys712Arg Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_005588 p.Asn803Lys Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_010045 p.Gly310Glu Unclassified - - RB1 P06400 VAR_010046 p.Arg358Gly Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_010048 p.Lys447Gln Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_010049 p.Lys530Arg Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_010050 p.Leu657Pro Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_011580 p.Arg500Gly Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_011581 p.Lys616Glu Disease - Childhood cancer retinoblastoma (RB) [MIM:180200] RB1 P06400 VAR_019379 p.Gln436Lys Polymorphism rs4151534 - RB1 P06400 VAR_019380 p.Ala525Gly Polymorphism rs4151539 - RB1 P06400 VAR_034442 p.Glu746Gly Polymorphism rs3092905 - RB1 P06400 VAR_051909 p.Asn133His Polymorphism rs3092900 - RB1 P06400 VAR_051910 p.Leu569Phe Polymorphism rs3092895 - RB1 P06400 VAR_051911 p.Asp697Glu Polymorphism rs3092903 - RBAK Q9NYW8 VAR_038438 p.Gly229Glu Polymorphism rs35352738 - RBBP6 Q7Z6E9 VAR_026216 p.Val555Ala Polymorphism rs16973840 - RBBP6 Q7Z6E9 VAR_051306 p.Asp43His Polymorphism rs16973796 - RBBP6 Q7Z6E9 VAR_051307 p.Lys1208Ile Polymorphism rs3743968 - RBBP8NL Q8NC74 VAR_056849 p.Asp348Asn Polymorphism rs3810553 - RBBP8NL Q8NC74 VAR_056850 p.Ala408Thr Polymorphism rs10888228 - RBBP8NL Q8NC74 VAR_056851 p.Glu607Lys Polymorphism rs6089366 - RBBP8NL Q8NC74 VAR_056852 p.Leu637Arg Polymorphism rs2236200 - RBBP8 Q99708 VAR_028308 p.His387Tyr Polymorphism rs1804732 - RBBP8 Q99708 VAR_051308 p.Lys357Asn Polymorphism rs34678569 - RBFA Q8N0V3 VAR_023233 p.Val122Met Polymorphism rs748338 - RBFA Q8N0V3 VAR_023234 p.Asn245His Polymorphism rs3744872 - RBFA Q8N0V3 VAR_023235 p.Lys276Gln Polymorphism rs3744873 - RBL1 P28749 VAR_034443 p.Ile1035Met Polymorphism rs8114297 - RBL2 Q08999 VAR_028437 p.Tyr210Cys Polymorphism rs17800727 - RBM10 P98175 VAR_035486 p.Arg396His Unclassified - A colorectal cancer sample RBM11 P57052 VAR_024621 p.Leu116Val Polymorphism rs409782 - RBM12B Q8IXT5 VAR_047291 p.Ser250Phe Polymorphism rs17853906 - RBM12B Q8IXT5 VAR_047292 p.Arg605Cys Polymorphism rs17857188 - RBM12B Q8IXT5 VAR_052219 p.Asn864His Polymorphism rs16916188 - RBM12 Q9NTZ6 VAR_052217 p.Asn572Ser Polymorphism rs17092928 - RBM12 Q9NTZ6 VAR_052218 p.Pro921Leu Polymorphism rs6121012 - RBM19 Q9Y4C8 VAR_023114 p.His609Arg Polymorphism rs2290789 - RBM19 Q9Y4C8 VAR_023115 p.Ile623Thr Polymorphism rs2290788 - RBM19 Q9Y4C8 VAR_023116 p.Thr665Ala Polymorphism rs2290787 - RBM19 Q9Y4C8 VAR_023117 p.Arg921Gln Polymorphism rs2075387 - RBM19 Q9Y4C8 VAR_057246 p.Arg821Gly Polymorphism rs16943379 - RBM19 Q9Y4C8 VAR_059822 p.Gln602Glu Polymorphism rs7299217 - RBM20 Q5T481 VAR_042532 p.Pro173Thr Polymorphism rs7908490 - RBM20 Q5T481 VAR_042533 p.Trp768Ser Polymorphism rs1417635 - RBM20 Q5T481 VAR_063092 p.Arg634Gln Disease - Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_063093 p.Arg636His Disease - Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_063094 p.Arg636Ser Disease - Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_063095 p.Ser637Gly Disease - Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] RBM20 Q5T481 VAR_063096 p.Pro638Leu Disease - Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] RBM23 Q86U06 VAR_052221 p.Asp184Asn Polymorphism rs34246954 - RBM23 Q86U06 VAR_052222 p.Phe428Leu Polymorphism rs1127066 - RBM26 Q5T8P6 VAR_030137 p.Val718Asp Polymorphism rs10767 - RBM28 Q9NW13 VAR_045654 p.Glu253Gln Polymorphism rs11554671 - RBM28 Q9NW13 VAR_045655 p.Leu351Pro Disease - Alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079] RBM33 Q96EV2 VAR_052223 p.Thr574Ala Polymorphism rs3735576 - RBM38 Q9H0Z9 VAR_015225 p.Ala178Val Polymorphism rs1065288 - RBM38 Q9H0Z9 VAR_015226 p.Ala200Asp Polymorphism rs1065289 - RBM38 Q9H0Z9 VAR_015227 p.Pro212His Polymorphism rs1065290 - RBM38 Q9H0Z9 VAR_059823 p.Val226Leu Polymorphism rs16980970 - RBM39 Q14498 VAR_015228 p.Ala2Val Polymorphism rs1803701 - RBM41 Q96IZ5 VAR_028897 p.His376Tyr Polymorphism rs17850127 - RBM43 Q6ZSC3 VAR_033722 p.Ile259Val Polymorphism rs35749426 - RBM44 Q6ZP01 VAR_033147 p.Asp52His Polymorphism rs13393001 - RBM44 Q6ZP01 VAR_033148 p.Asn892His Polymorphism rs10186505 - RBM44 Q6ZP01 VAR_057247 p.Asp51His Polymorphism rs13393001 - RBM47 A0AV96 VAR_054770 p.Met565Val Polymorphism rs278981 - RBM47 A0AV96 VAR_061832 p.Gly538Arg Polymorphism rs35529250 - RBM4B Q9BQ04 VAR_064766 p.Glu93Val Polymorphism - - RBM5 P52756 VAR_061831 p.Lys163Asn Polymorphism rs56783610 - RBM6 P78332 VAR_014226 p.Ser353Phe Unclassified - A non-small cell lung cancer cell line RBM6 P78332 VAR_052216 p.Asn721Thr Polymorphism rs34707170 - RBMX2 Q9Y388 VAR_033724 p.Arg287His Polymorphism rs5977266 - RBMXL2 O75526 VAR_055334 p.Leu15Phe Polymorphism rs17857474 - RBMXL2 O75526 VAR_055335 p.Thr134Ala Polymorphism rs11041171 - RBMXL2 O75526 VAR_055336 p.Tyr308Cys Polymorphism rs17854944 - RBMXL2 O75526 VAR_061833 p.Ala66Val Polymorphism rs11041170 - RBP3 P10745 VAR_035929 p.Arg530His Unclassified - A colorectal cancer sample RBP3 P10745 VAR_051315 p.Val884Met Polymorphism rs11204213 - RBP4 P02753 VAR_009276 p.Ile59Asn Disease - Retinol-binding protein deficiency (RBP deficiency) [MIM:180250] RBP4 P02753 VAR_009277 p.Gly93Asp Disease - Retinol-binding protein deficiency (RBP deficiency) [MIM:180250] RBP5 P82980 VAR_034445 p.Glu70Gln Polymorphism rs7969705 - RBP5 P82980 VAR_034446 p.Met115Leu Polymorphism rs2290237 - RBP5 P82980 VAR_049013 p.Asp19Asn Polymorphism rs10963 - RBPJ Q06330 VAR_028994 p.Lys291Glu Polymorphism rs1064372 - RBPJ Q06330 VAR_028995 p.Asp334His Polymorphism rs1064376 - RBPJ Q06330 VAR_028996 p.Arg419Gln Polymorphism rs1064384 - RBPJ Q06330 VAR_028997 p.Pro425Ser Polymorphism rs1064387 - RBPJ Q06330 VAR_028998 p.Ala456Val Polymorphism rs1064402 - RBPJ Q06330 VAR_057243 p.Met296Lys Polymorphism rs5011135 - RBPJ Q06330 VAR_057244 p.Ile408Val Polymorphism rs1064381 - RCAN3 Q9UKA8 VAR_033727 p.Thr236Asn Polymorphism rs16829813 - RCBTB1 Q8NDN9 VAR_024757 p.Ala24Val Polymorphism rs4942848 - RCBTB1 Q8NDN9 VAR_024830 p.Thr500Ile Polymorphism - - RCBTB2 O95199 VAR_024758 p.Ala263Thr Polymorphism rs9332000 - RCBTB2 O95199 VAR_024759 p.Cys515Ser Polymorphism rs9332075 - RCCD1 A6NED2 VAR_043727 p.Ala8Ser Polymorphism rs4932380 - RCE1 Q9Y256 VAR_036407 p.Pro326Ala Unclassified - A breast cancer sample RCN1 Q15293 VAR_011964 p.Thr71Asn Polymorphism rs1061145 - RCN1 Q15293 VAR_011965 p.Asp73Tyr Polymorphism rs1804281 - RCN1 Q15293 VAR_011966 p.Gln74Glu Polymorphism rs1061143 - RCN1 Q15293 VAR_011967 p.Arg188Pro Polymorphism rs1061080 - RCN1 Q15293 VAR_035460 p.Phe117Leu Unclassified - A colorectal cancer sample RCN3 Q96D15 VAR_033696 p.Arg250Trp Polymorphism rs34654230 - RCOR2 Q8IZ40 VAR_025516 p.Thr514Ala Polymorphism rs320108 - RCOR3 Q9P2K3 VAR_025517 p.Lys42Arg Polymorphism rs17856928 - RCSD1 Q6JBY9 VAR_039181 p.Gln384Arg Polymorphism rs34699420 - RD3 Q7Z3Z2 VAR_023050 p.Arg47Cys Polymorphism rs34049451 - RD3 Q7Z3Z2 VAR_031510 p.Trp6Arg Polymorphism rs35649846 - RD3 Q7Z3Z2 VAR_031511 p.Glu23Asp Polymorphism rs34422496 - RD3 Q7Z3Z2 VAR_031512 p.Gly35Arg Polymorphism - - RD3 Q7Z3Z2 VAR_031513 p.Gly57Val Unclassified - - RD3 Q7Z3Z2 VAR_031514 p.Arg68Trp Polymorphism - - RD3 Q7Z3Z2 VAR_031515 p.Lys130Met Unclassified - - RD3 Q7Z3Z2 VAR_031516 p.Arg167Lys Polymorphism - - RD3 Q7Z3Z2 VAR_031517 p.Asp195Val Polymorphism - - RDH12 Q96NR8 VAR_020858 p.Thr49Met Disease rs28940314 Leber congenital amaurosis type 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020859 p.Ile51Asn Disease - Leber congenital amaurosis type 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020860 p.Leu99Ile Disease rs28940315 Leber congenital amaurosis type 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020861 p.His151Asp Disease - Leber congenital amaurosis type 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020862 p.His151Asn Disease - Leber congenital amaurosis type 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020863 p.Ser175Pro Disease - Leber congenital amaurosis type 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020864 p.Tyr226Cys Disease rs28940313 Leber congenital amaurosis type 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_020865 p.Pro230Ala Disease - Leber congenital amaurosis type 13 (LCA13) [MIM:612712] RDH12 Q96NR8 VAR_028281 p.Arg161Gln Polymorphism rs17852293 - RDH12 Q96NR8 VAR_064163 p.Ala47Thr Unclassified - - RDH12 Q96NR8 VAR_064164 p.Thr55Met Unclassified - - RDH12 Q96NR8 VAR_064165 p.Arg65Gln Polymorphism - - RDH12 Q96NR8 VAR_064166 p.Gly76Arg Disease - Retinitis pigmentosa type 53 (RP53) [MIM:612712] RDH12 Q96NR8 VAR_064167 p.Asp101Asn Polymorphism - - RDH12 Q96NR8 VAR_064168 p.Asn125Lys Unclassified - - RDH12 Q96NR8 VAR_064169 p.Ala126Val Disease - Retinitis pigmentosa type 53 (RP53) [MIM:612712] RDH12 Q96NR8 VAR_064170 p.Gly145Glu Unclassified - - RDH12 Q96NR8 VAR_064171 p.Thr155Ile Unclassified - - RDH12 Q96NR8 VAR_064172 p.Arg193Cys Unclassified - - RDH12 Q96NR8 VAR_064173 p.Ala206Asp Unclassified - - RDH12 Q96NR8 VAR_064174 p.Ala206Val Unclassified - - RDH12 Q96NR8 VAR_064175 p.Pro230Leu Unclassified - - RDH12 Q96NR8 VAR_064176 p.Arg234His Unclassified - - RDH12 Q96NR8 VAR_064177 p.Arg239Trp Unclassified - - RDH12 Q96NR8 VAR_064178 p.Leu274Pro Unclassified - - RDH12 Q96NR8 VAR_064179 p.Cys285Tyr Unclassified - - RDH5 Q92781 VAR_009272 p.Ile33Val Polymorphism - - RDH5 Q92781 VAR_009273 p.Ser73Phe Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_009274 p.Gly238Trp Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_016814 p.Gly35Ser Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_016815 p.Gly107Arg Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_016816 p.Val132Met Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_016817 p.Val164Phe Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_016818 p.Val177Gly Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_016819 p.Cys267Trp Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_016820 p.Arg280His Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_016821 p.Tyr281His Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_016822 p.Ala294Pro Disease - Retinitis punctata albescens (RPA) [MIM:136880] RDH5 Q92781 VAR_052321 p.Arg21Gln Polymorphism rs3138143 - RDH5 Q92781 VAR_052322 p.Arg70Gly Polymorphism rs1058635 - RDH8 Q9NYR8 VAR_035232 p.His136Gln Polymorphism rs1122206 - RDH8 Q9NYR8 VAR_035233 p.Met202Thr Polymorphism rs1644731 - RDM1 Q8NG50 VAR_034835 p.His32Arg Polymorphism rs2280786 - RDM1 Q8NG50 VAR_034836 p.Cys127Trp Polymorphism rs2251660 - RDX P35241 VAR_036857 p.Lys328Glu Polymorphism rs17854427 - RDX P35241 VAR_036858 p.Asp490Asn Polymorphism rs34471100 - RDX P35241 VAR_036859 p.Asp578Asn Disease - Deafness autosomal recessive type 24 (DFNB24) [MIM:611022] REC8 O95072 VAR_051722 p.Arg31Cys Polymorphism rs34075659 - REC8 O95072 VAR_051723 p.Pro294Leu Polymorphism rs35425516 - REC8 O95072 VAR_058128 p.Val411Phe Polymorphism rs17855369 - RECK O95980 VAR_034021 p.Val275Ile Polymorphism rs16932912 - RECQL4 O94761 VAR_023295 p.Glu267Asp Polymorphism rs4244612 - RECQL4 O94761 VAR_023296 p.Arg355Gln Polymorphism - - RECQL4 O94761 VAR_023297 p.Pro441Ser Polymorphism - - RECQL4 O94761 VAR_023299 p.Arg1005Gln Polymorphism rs4251691 - RECQL4 O94761 VAR_025117 p.Gln54Arg Polymorphism rs35198096 - RECQL4 O94761 VAR_025118 p.Glu71Gly Polymorphism rs34642881 - RECQL4 O94761 VAR_025119 p.Pro92Ser Polymorphism rs2721190 - RECQL4 O94761 VAR_025120 p.Gly189Ser Polymorphism rs34371341 - RECQL4 O94761 VAR_025121 p.Ala273Thr Polymorphism rs34103564 - RECQL4 O94761 VAR_025122 p.Glu301Lys Polymorphism rs34633809 - RECQL4 O94761 VAR_025123 p.Arg522Cys Polymorphism rs35407712 - RECQL4 O94761 VAR_025124 p.Arg522His Polymorphism rs35842750 - RECQL4 O94761 VAR_025125 p.Pro591Leu Polymorphism rs2721191 - RECQL4 O94761 VAR_025126 p.Pro793Ser Polymorphism rs35098923 - RECQL4 O94761 VAR_025127 p.Val799Met Polymorphism rs34293591 - RECQL4 O94761 VAR_025128 p.Pro964Thr Polymorphism rs33972310 - RECQL4 O94761 VAR_025129 p.Glu976Lys Polymorphism rs35070885 - RECQL4 O94761 VAR_025130 p.Arg1004Trp Polymorphism rs36023964 - RECQL4 O94761 VAR_025131 p.Arg1021Gln Polymorphism rs34666647 - RECQL4 O94761 VAR_025132 p.Ala1045Thr Polymorphism rs35348691 - RECQL4 O94761 VAR_025133 p.Gly1105Asp Polymorphism rs36078464 - RECQL4 O94761 VAR_025134 p.Gly1105Ser Polymorphism rs34915097 - RECQL4 O94761 VAR_025135 p.Arg1106His Polymorphism rs34236392 - RECQL4 O94761 VAR_025136 p.Gly1113Arg Polymorphism rs35101495 - RECQL4 O94761 VAR_025137 p.Ser1148Phe Polymorphism rs35346077 - RECQL4 O94761 VAR_026590 p.Ser523Thr Polymorphism - - RECQL4 O94761 VAR_026591 p.Arg1021Trp Disease - Baller-Gerold syndrome (BGS) [MIM:218600] RECQL4 O94761 VAR_057125 p.Pro793Leu Polymorphism rs35098923 - RECQL4 O94761 VAR_057126 p.Leu1043Pro Polymorphism rs4925828 - RECQL5 O94762 VAR_024272 p.Asp480Gly Polymorphism rs820196 - RECQL5 O94762 VAR_051733 p.Ser628Asn Polymorphism rs35566780 - RECQL P46063 VAR_016140 p.Lys487Thr Polymorphism rs6501 - RECQL P46063 VAR_016141 p.Asp495His Polymorphism rs6499 - RECQL P46063 VAR_034679 p.Val102Ile Polymorphism rs1065751 - RECQL P46063 VAR_051732 p.Val372Ile Polymorphism rs2230003 - REEP1 Q9H902 VAR_027351 p.Ala20Glu Disease - Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250] REEP3 Q6NUK4 VAR_048926 p.Gln171Arg Polymorphism rs10995569 - REEP6 Q96HR9 VAR_048927 p.Ala150Asp Polymorphism rs2271412 - REG1B P48304 VAR_050121 p.Arg109His Polymorphism rs7586984 - REG4 Q9BYZ8 VAR_050122 p.Asn135His Polymorphism rs34996202 - RELB Q01201 VAR_051782 p.Thr396Met Polymorphism rs2230682 - RELL2 Q8NC24 VAR_027496 p.Ser128Pro Polymorphism rs17855845 - RELL2 Q8NC24 VAR_027497 p.Leu133Ile Polymorphism rs14251 - RELL2 Q8NC24 VAR_027498 p.Gly196Arg Polymorphism rs17855844 - RELL2 Q8NC24 VAR_027499 p.Gln283Glu Polymorphism rs11742646 - RELN P78509 VAR_047977 p.Thr978Ala Polymorphism rs3025962 - RELN P78509 VAR_047978 p.Leu997Val Polymorphism rs362691 - RELN P78509 VAR_057712 p.Pro1703Arg Polymorphism rs2229860 - RELT Q969Z4 VAR_022614 p.Ala332Val Polymorphism rs12362779 - REM1 O75628 VAR_049498 p.His28Arg Polymorphism rs1006459 - REM1 O75628 VAR_049499 p.Pro59Ala Polymorphism rs2233829 - REM1 O75628 VAR_061232 p.Arg45Trp Polymorphism rs59730832 - REM2 Q8IYK8 VAR_055938 p.Gly96Ala Polymorphism rs8014119 - RENBP P51606 VAR_029339 p.Gln169Arg Polymorphism rs2229241 - RENBP P51606 VAR_049182 p.Asp284Gly Polymorphism rs2269371 - REN P00797 VAR_020375 p.Arg33Trp Polymorphism rs11571098 - REN P00797 VAR_020376 p.Gly217Arg Polymorphism rs11571117 - REN P00797 VAR_029171 p.Gln160Lys Polymorphism rs11571083 - REN P00797 VAR_035087 p.Arg230Lys Disease - Renal tubular dysgenesis (RTD) [MIM:267430] REN P00797 VAR_035088 p.Asp104Asn Disease - Renal tubular dysgenesis (RTD) [MIM:267430] REN P00797 VAR_063770 p.Leu16Arg Disease - Familial juvenile hyperuricemic nephropathy type 2 (HNFJ2) [MIM:613092] REP15 Q6BDI9 VAR_039548 p.Asn101Asp Polymorphism rs929949 - REP15 Q6BDI9 VAR_039549 p.Glu206Asp Polymorphism rs12819160 - REPIN1 Q9BWE0 VAR_030364 p.Leu14Pro Polymorphism rs3735165 - REPIN1 Q9BWE0 VAR_030365 p.Pro88Ser Polymorphism rs11553624 - REPIN1 Q9BWE0 VAR_030366 p.Arg92His Polymorphism rs17173702 - REPIN1 Q9BWE0 VAR_030367 p.Ala97Val Polymorphism rs17173703 - REPIN1 Q9BWE0 VAR_052730 p.Gly49Arg Polymorphism rs35090619 - RERGL Q9H628 VAR_039208 p.Met163Val Polymorphism rs941048 - REST Q13127 VAR_029795 p.Val626Ile Polymorphism rs2228991 - REST Q13127 VAR_029796 p.Glu692Asp Polymorphism rs2227902 - REST Q13127 VAR_029797 p.Lys762Gln Polymorphism rs2227903 - REST Q13127 VAR_029798 p.Pro797Leu Polymorphism rs3796529 - RETNLB Q9BQ08 VAR_051791 p.Pro20Leu Polymorphism rs11708527 - RET P07949 VAR_006295 p.Ser32Leu Disease rs76764689 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006296 p.Pro64Leu Disease rs77596424 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006297 p.Gly93Ser Unclassified - - RET P07949 VAR_006298 p.Cys142Ser Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006299 p.Arg231His Disease rs79661516 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006300 p.Glu251Lys Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006301 p.Arg287Gln Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006302 p.Arg330Gln Disease rs80236571 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006303 p.Phe393Leu Disease rs78098482 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006304 p.Pro399Leu Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006305 p.Arg475Gln Disease rs138624658 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006306 p.Cys609Tyr Disease rs77939446 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006306 p.Cys609Tyr Disease rs77939446 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006306 p.Cys609Tyr Disease rs77939446 Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006307 p.Cys609Trp Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006308 p.Cys611Trp Disease rs80069458 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006308 p.Cys611Trp Disease rs80069458 Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006309 p.Cys611Tyr Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006310 p.Cys618Gly Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006311 p.Cys618Arg Disease rs76262710 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006311 p.Cys618Arg Disease rs76262710 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006311 p.Cys618Arg Disease rs76262710 Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006312 p.Cys618Phe Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006312 p.Cys618Phe Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006313 p.Cys618Ser Disease rs79781594 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006313 p.Cys618Ser Disease rs79781594 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006313 p.Cys618Ser Disease rs79781594 Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006314 p.Cys618Tyr Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006314 p.Cys618Tyr Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006315 p.Cys620Gly Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006315 p.Cys620Gly Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006316 p.Cys620Arg Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006316 p.Cys620Arg Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006316 p.Cys620Arg Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006317 p.Cys620Ser Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006317 p.Cys620Ser Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006318 p.Cys620Phe Disease rs77503355 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006318 p.Cys620Phe Disease rs77503355 Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006319 p.Cys620Tyr Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006320 p.Cys630Phe Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006320 p.Cys630Phe Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006321 p.Asp631Gly Unclassified rs121913308 Thyroid carcinoma RET P07949 VAR_006323 p.Cys634Gly Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006323 p.Cys634Gly Disease - Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006324 p.Cys634Phe Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006324 p.Cys634Phe Disease - Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006325 p.Cys634Tyr Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006325 p.Cys634Tyr Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006325 p.Cys634Tyr Disease - Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006326 p.Cys634Arg Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006326 p.Cys634Arg Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006326 p.Cys634Arg Disease - Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006327 p.Cys634Ser Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006327 p.Cys634Ser Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006327 p.Cys634Ser Disease - Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006328 p.Cys634Trp Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006328 p.Cys634Trp Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_006328 p.Cys634Trp Disease - Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_006331 p.Ser690Pro Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006332 p.Gly691Ser Polymorphism rs1799939 - RET P07949 VAR_006334 p.Ser767Arg Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006335 p.Glu768Asp Disease rs78014899 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006336 p.Val804Leu Disease rs79658334 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006337 p.Val804Met Disease rs79658334 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006338 p.Arg873Gln Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006339 p.Phe893Leu Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006340 p.Arg897Gln Disease rs76087194 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006341 p.Lys907Glu Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006342 p.Met918Thr Disease rs74799832 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006342 p.Met918Thr Disease rs74799832 Multiple neoplasia type 2B (MEN2B) [MIM:162300] RET P07949 VAR_006342 p.Met918Thr Disease rs74799832 Renal adysplasia (RADYS) [MIM:191830] RET P07949 VAR_006343 p.Glu921Lys Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006345 p.Thr946Met Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_006345 p.Thr946Met Disease - Multiple neoplasia type 2B (MEN2B) [MIM:162300] RET P07949 VAR_006346 p.Arg972Gly Disease rs76534745 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006347 p.Pro973Leu Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006348 p.Met980Thr Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_006349 p.Arg982Cys Polymorphism rs17158558 - RET P07949 VAR_008966 p.Arg600Gln Polymorphism - - RET P07949 VAR_009459 p.Pro20Leu Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009460 p.Arg77Cys Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009461 p.Cys157Tyr Unclassified - - RET P07949 VAR_009462 p.Phe174Ser Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009463 p.Arg180Pro Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009464 p.Cys197Tyr Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009465 p.Arg313Gln Disease rs77702891 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009466 p.Asn359Lys Unclassified - - RET P07949 VAR_009467 p.Arg360Trp Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009468 p.Asn394Lys Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009470 p.Cys609Gly Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_009471 p.Cys609Arg Disease rs77558292 Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_009472 p.Cys611Gly Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009473 p.Cys611Arg Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_009474 p.Cys611Ser Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_009475 p.Cys620Trp Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009475 p.Cys620Trp Disease - Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_009476 p.Gln626Lys Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009477 p.Cys630Ser Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009478 p.Cys630Tyr Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009480 p.Ala640Gly Disease rs78935588 Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_009481 p.Glu762Gln Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009482 p.Leu790Phe Disease rs75030001 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009482 p.Leu790Phe Disease rs75030001 Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_009483 p.Tyr791Phe Disease rs77724903 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009483 p.Tyr791Phe Disease rs77724903 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009483 p.Tyr791Phe Disease rs77724903 Multiple neoplasia type 2A (MEN2A) [MIM:171400] RET P07949 VAR_009483 p.Tyr791Phe Disease rs77724903 Pheochromocytoma (PCC) [MIM:171300] RET P07949 VAR_009484 p.Arg813Gln Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009485 p.Ala883Phe Disease - Multiple neoplasia type 2B (MEN2B) [MIM:162300] RET P07949 VAR_009486 p.Ser891Ala Disease rs75234356 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_009487 p.Ser922Tyr Polymorphism - - RET P07949 VAR_009488 p.Pro1039Gln Polymorphism - - RET P07949 VAR_009490 p.Leu1061Pro Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009491 p.Met1064Thr Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009492 p.Leu40Pro Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_009493 p.Ser765Pro Disease rs75075748 Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_011582 p.Arg844Leu Disease rs55947360 Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_012743 p.Ala639Gly Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_012744 p.Ala641Gly Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_012745 p.Ser922Phe Disease - Medullary thyroid carcinoma (MTC) [MIM:155240] RET P07949 VAR_018153 p.Arg67His Disease rs192489011 Congenital central hypoventilation syndrome (CCHS) [MIM:209880] RET P07949 VAR_018154 p.Arg114His Disease - Congenital central hypoventilation syndrome (CCHS) [MIM:209880] RET P07949 VAR_018154 p.Arg114His Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_018155 p.Ala432Glu Disease - Congenital central hypoventilation syndrome (CCHS) [MIM:209880] RET P07949 VAR_018156 p.Asp489Asn Polymorphism rs9282834 - RET P07949 VAR_018157 p.Pro1039Leu Disease rs79853121 Congenital central hypoventilation syndrome (CCHS) [MIM:209880] RET P07949 VAR_035711 p.Val145Gly Disease - Hirschsprung disease type 1 (HSCR1) [MIM:142623] RET P07949 VAR_035712 p.Gly593Glu Unclassified - A colorectal cancer sample RET P07949 VAR_041762 p.Arg163Gln Unclassified rs149403911 A colorectal adenocarcinoma sample RET P07949 VAR_041763 p.Thr278Asn Polymorphism rs35118262 - RET P07949 VAR_041764 p.Val292Met Unclassified rs34682185 - RET P07949 VAR_041765 p.Arg749Thr Polymorphism rs34288963 - RET P07949 VAR_041766 p.Tyr826Ser Polymorphism rs34617196 - RET P07949 VAR_041767 p.Phe1112Tyr Unclassified - A bladder transitional cell carcinoma sample RET P07949 VAR_044392 p.Pro198Thr Disease rs76736111 Renal adysplasia (RADYS) [MIM:191830] RET P07949 VAR_044393 p.Val376Ala Disease - Renal adysplasia (RADYS) [MIM:191830] RET P07949 VAR_044394 p.Asn394His Disease - Renal adysplasia (RADYS) [MIM:191830] RET P07949 VAR_044395 p.Val778Ile Disease rs75686697 Renal adysplasia (RADYS) [MIM:191830] RET P07949 VAR_044396 p.Gly894Ser Disease - Renal adysplasia (RADYS) [MIM:191830] RET P07949 VAR_044397 p.Pro1049Leu Disease - Renal adysplasia (RADYS) [MIM:191830] RET P07949 VAR_044398 p.Pro1067Ser Disease - Renal adysplasia (RADYS) [MIM:191830] RETSAT Q6NUM9 VAR_025473 p.Ala533Val Polymorphism rs4832169 - RETSAT Q6NUM9 VAR_059243 p.Gly536Arg Polymorphism rs4832168 - RETSAT Q6NUM9 VAR_059244 p.Pro559Thr Polymorphism rs13384912 - REV1 Q9UBZ9 VAR_021249 p.Val138Met Polymorphism rs3087403 - REV1 Q9UBZ9 VAR_021250 p.Phe257Ser Polymorphism rs3087386 - REV1 Q9UBZ9 VAR_021251 p.Asn373Ser Polymorphism rs3087399 - REV1 Q9UBZ9 VAR_024436 p.Ala1003Thr Polymorphism rs3087401 - REV1 Q9UBZ9 VAR_029193 p.Asn306Asp Polymorphism rs28382882 - REV1 Q9UBZ9 VAR_029194 p.Met656Val Polymorphism rs3087394 - REV1 Q9UBZ9 VAR_029195 p.Leu660Trp Polymorphism rs3087398 - REV1 Q9UBZ9 VAR_029196 p.Asp700Asn Polymorphism rs28382941 - REV1 Q9UBZ9 VAR_029197 p.Arg704Gln Polymorphism rs28382942 - REV1 Q9UBZ9 VAR_029198 p.Pro902Ser Polymorphism rs28382960 - REV1 Q9UBZ9 VAR_029199 p.Pro902His Polymorphism rs28382961 - REV1 Q9UBZ9 VAR_029200 p.Ser921Ile Polymorphism rs3087396 - REV1 Q9UBZ9 VAR_029201 p.Pro1060Thr Polymorphism rs3087388 - REV1 Q9UBZ9 VAR_029202 p.Asn1074Lys Polymorphism rs3087393 - REV1 Q9UBZ9 VAR_029203 p.Asn1091Thr Polymorphism rs3087392 - REV1 Q9UBZ9 VAR_029204 p.Leu1102Pro Polymorphism rs3087400 - REV3L O60673 VAR_008516 p.Gln231His Polymorphism rs1053911 - REV3L O60673 VAR_008517 p.Ser389Thr Polymorphism - - REV3L O60673 VAR_008518 p.Lys1540Glu Polymorphism rs1053913 - REV3L O60673 VAR_008519 p.Ser2607Thr Polymorphism - - REV3L O60673 VAR_016147 p.Val3064Ile Polymorphism rs3204953 - REV3L O60673 VAR_022226 p.Gln397Pro Polymorphism rs3218579 - REV3L O60673 VAR_022227 p.Met693Thr Polymorphism rs3218593 - REV3L O60673 VAR_022228 p.Arg962Gln Polymorphism rs17539588 - REV3L O60673 VAR_022229 p.Tyr1156Cys Polymorphism rs458017 - REV3L O60673 VAR_022230 p.Thr1224Ile Polymorphism rs462779 - REV3L O60673 VAR_022231 p.Ser1302Thr Polymorphism rs3218597 - REV3L O60673 VAR_022232 p.Gln1309His Polymorphism rs3218595 - REV3L O60673 VAR_022233 p.Pro1339Thr Polymorphism rs17539616 - REV3L O60673 VAR_022234 p.Gln1469Pro Polymorphism rs3218572 - REV3L O60673 VAR_022235 p.Ser1576Leu Polymorphism rs3218582 - REV3L O60673 VAR_022236 p.Asp1713Asn Polymorphism rs3218585 - REV3L O60673 VAR_022237 p.Ser1724Thr Polymorphism rs17539644 - REV3L O60673 VAR_022238 p.Pro1791Ser Polymorphism rs17539651 - REV3L O60673 VAR_022239 p.Asp1812His Polymorphism rs3218599 - REV3L O60673 VAR_022240 p.Gly1923Arg Polymorphism rs3218604 - REV3L O60673 VAR_022241 p.Arg1970His Polymorphism rs3218606 - REV3L O60673 VAR_022242 p.Glu2015Val Polymorphism rs17539692 - REV3L O60673 VAR_022243 p.Ile2075Met Polymorphism rs17510963 - REV3L O60673 VAR_022244 p.Arg2762Gln Polymorphism rs3218592 - REV3L O60673 VAR_048883 p.Ser633Gly Polymorphism rs3218598 - REV3L O60673 VAR_048884 p.Ser1220Leu Polymorphism rs3218600 - REV3L O60673 VAR_048885 p.Thr1284Pro Polymorphism rs3218578 - REXO1 Q8N1G1 VAR_026587 p.Ser886Gly Polymorphism rs2396359 - REXO1 Q8N1G1 VAR_057148 p.Val408Ala Polymorphism rs10415018 - REXO1 Q8N1G1 VAR_057149 p.Ile804Val Polymorphism rs34831403 - REXO1 Q8N1G1 VAR_060444 p.Ser759Pro Polymorphism rs4807145 - REXO4 Q9GZR2 VAR_023067 p.Arg141Lys Polymorphism rs6597630 - REXO4 Q9GZR2 VAR_023068 p.Thr283Ala Polymorphism rs2285487 - RFC1 P35251 VAR_014860 p.Ile598Val Polymorphism rs2066791 - RFC1 P35251 VAR_016986 p.Arg613Leu Polymorphism rs1057747 - RFC1 P35251 VAR_020657 p.Glu692Asp Polymorphism - - RFC1 P35251 VAR_020658 p.Gln955Lys Polymorphism - - RFC1 P35251 VAR_020659 p.Ser1146Leu Polymorphism - - RFC2 P35250 VAR_023126 p.Ala232Val Polymorphism rs3135684 - RFC3 P40938 VAR_018750 p.Leu16Val Polymorphism rs3135533 - RFC4 P35249 VAR_014307 p.Val292Ala Polymorphism rs2066497 - RFC4 P35249 VAR_036121 p.Thr354Ser Unclassified - A breast cancer sample RFC5 P40937 VAR_018749 p.Ala13Thr Polymorphism rs5745796 - RFPL1 O75677 VAR_020115 p.Met127Thr Polymorphism rs3804076 - RFPL1 O75677 VAR_039572 p.Trp94Arg Polymorphism rs16987627 - RFPL2 O75678 VAR_060534 p.Ala119Thr Polymorphism rs8135276 - RFPL2 O75678 VAR_060535 p.Cys141Tyr Polymorphism rs136478 - RFPL2 O75678 VAR_060536 p.Gln215His Polymorphism rs56240743 - RFPL2 O75678 VAR_060537 p.Thr290Ser Polymorphism rs136472 - RFPL2 O75678 VAR_060538 p.Ser324Gly Polymorphism rs136470 - RFPL2 O75678 VAR_060539 p.Arg341Cys Polymorphism rs136468 - RFPL2 O75678 VAR_060540 p.Val348Ile Polymorphism rs136467 - RFPL3 O75679 VAR_052091 p.Met83Thr Polymorphism rs16987625 - RFPL3 O75679 VAR_052092 p.Leu110Met Polymorphism rs9621427 - RFPL3 O75679 VAR_052093 p.Asp126Asn Polymorphism rs9619258 - RFPL3 O75679 VAR_059814 p.Tyr181Cys Polymorphism rs5749408 - RFPL4B Q6ZWI9 VAR_044525 p.Gly234Asp Polymorphism rs11153361 - RFT1 Q96AA3 VAR_037215 p.Ala185Thr Polymorphism rs35221142 - RFT1 Q96AA3 VAR_044334 p.Arg67Cys Disease - Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015] RFT1 Q96AA3 VAR_062572 p.Lys152Glu Disease - Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015] RFT1 Q96AA3 VAR_062573 p.Glu298Lys Disease - Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015] RFTN1 Q14699 VAR_051317 p.Glu248Lys Polymorphism rs34276015 - RFTN1 Q14699 VAR_061699 p.Val421Ile Polymorphism rs11554130 - RFWD3 Q6PCD5 VAR_030700 p.Thr90Asn Polymorphism rs8058922 - RFWD3 Q6PCD5 VAR_030701 p.Arg392Lys Polymorphism rs17854997 - RFWD3 Q6PCD5 VAR_030702 p.Ile564Val Polymorphism rs7193541 - RFWD3 Q6PCD5 VAR_030703 p.Ile770Thr Polymorphism rs17854996 - RFX1 P22670 VAR_059781 p.Thr370Ala Polymorphism rs2305780 - RFX2 P48378 VAR_036530 p.Ala37Gly Unclassified - A breast cancer sample RFX2 P48378 VAR_036531 p.Glu110Lys Unclassified - A breast cancer sample RFX2 P48378 VAR_057151 p.Ala86Thr Polymorphism rs2288846 - RFX2 P48378 VAR_058416 p.Arg610Gln Polymorphism rs17852566 - RFX4 Q33E94 VAR_037873 p.Ser687Asn Polymorphism - - RFX4 Q33E94 VAR_057152 p.Ser698Ala Polymorphism rs17038766 - RFX5 P48382 VAR_015550 p.Arg149Gln Disease - Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920] RFX5 P48382 VAR_034448 p.Arg197Gln Polymorphism rs2233851 - RFX5 P48382 VAR_034449 p.Pro409Arg Polymorphism rs2233854 - RFX5 P48382 VAR_034450 p.Pro499Ser Polymorphism rs2233855 - RFX6 Q8HWS3 VAR_037709 p.Glu6Lys Polymorphism rs17853900 - RFX6 Q8HWS3 VAR_037710 p.Thr688Ala Polymorphism rs17857184 - RFX6 Q8HWS3 VAR_037711 p.Ser743Asn Polymorphism rs582803 - RFX6 Q8HWS3 VAR_061768 p.Ala17Glu Polymorphism rs9489056 - RFX6 Q8HWS3 VAR_062978 p.Arg181Gln Disease - The Mitchell-Riley syndrome (MIRIS) [MIM:601346] RFX6 Q8HWS3 VAR_062979 p.Ser217Pro Disease - The Mitchell-Riley syndrome (MIRIS) [MIM:601346] RFX7 Q2KHR2 VAR_044135 p.Gly434Val Polymorphism rs16976751 - RFX7 Q2KHR2 VAR_044136 p.Val677Leu Polymorphism rs3803460 - RFX7 Q2KHR2 VAR_044137 p.Leu1256Pro Polymorphism rs33984059 - RFXANK O14593 VAR_009941 p.Leu195Pro Disease - Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920] RFXANK O14593 VAR_014472 p.Gln251Glu Polymorphism rs1802498 - RFXANK O14593 VAR_048311 p.Glu48Asp Polymorphism rs34282046 - RGAG1 Q8NET4 VAR_051318 p.Pro777Ser Polymorphism rs35495390 - RGAG4 Q5HYW3 VAR_051319 p.Ser420Arg Polymorphism rs6624595 - RGL1 Q9NZL6 VAR_035823 p.Tyr174Ser Unclassified - A breast cancer sample RGL1 Q9NZL6 VAR_035824 p.Val699Met Unclassified - A breast cancer sample RGL2 O15211 VAR_051903 p.Pro598Leu Polymorphism rs34022110 - RGL2 O15211 VAR_051904 p.Gly705Glu Polymorphism rs35273540 - RGL3 Q3MIN7 VAR_035298 p.Pro162His Polymorphism rs167479 - RGL3 Q3MIN7 VAR_035299 p.Ala164Val Polymorphism rs160838 - RGL3 Q3MIN7 VAR_035300 p.Arg615Cys Polymorphism rs2291516 - RGL4 Q8IZJ4 VAR_016244 p.Gln24Arg Polymorphism rs738786 - RGL4 Q8IZJ4 VAR_016245 p.His241Tyr Polymorphism rs2070446 - RGL4 Q8IZJ4 VAR_016246 p.Met342Arg Polymorphism rs2070449 - RGL4 Q8IZJ4 VAR_016247 p.Val378Ala Polymorphism rs1007298 - RGL4 Q8IZJ4 VAR_051905 p.Arg37Cys Polymorphism rs17003394 - RGL4 Q8IZJ4 VAR_051906 p.Thr216Met Polymorphism rs17003397 - RGL4 Q8IZJ4 VAR_051907 p.Glu297Lys Polymorphism rs17003398 - RGL4 Q8IZJ4 VAR_051908 p.Asp358Val Polymorphism rs8137247 - RGMA Q96B86 VAR_060105 p.Ala431Val Polymorphism rs4778078 - RGMA Q96B86 VAR_062144 p.Asp415Glu Polymorphism rs4238485 - RGR P47804 VAR_017034 p.Ser66Arg Disease - Retinitis pigmentosa type 44 (RP44) [MIM:613769] RGR P47804 VAR_017055 p.Val132Leu Polymorphism - - RGR P47804 VAR_017056 p.His152Asn Polymorphism - - RGR P47804 VAR_017057 p.Ser241Phe Polymorphism - - RGR P47804 VAR_017058 p.Ala234Thr Polymorphism - - RGS10 O43665 VAR_011896 p.Ala94Val Polymorphism rs1802228 - RGS11 O94810 VAR_024606 p.Met427Thr Polymorphism rs739999 - RGS11 O94810 VAR_061770 p.Val351Met Polymorphism rs9806942 - RGS12 O14924 VAR_020208 p.Asn1124Ser Polymorphism rs2269497 - RGS12 O14924 VAR_034451 p.Ile225Val Polymorphism rs7679941 - RGS12 O14924 VAR_034452 p.Met277Leu Polymorphism rs16844152 - RGS13 O14921 VAR_034453 p.Leu150Phe Polymorphism rs16834603 - RGS16 O15492 VAR_046528 p.His137Arg Polymorphism rs1144566 - RGS22 Q8NE09 VAR_051797 p.Arg397Met Polymorphism rs2446927 - RGS22 Q8NE09 VAR_051798 p.His943Tyr Polymorphism rs3133711 - RGS3 P49796 VAR_051794 p.Arg129Lys Polymorphism rs16933949 - RGS3 P49796 VAR_061769 p.Arg809Gln Polymorphism rs41305473 - RGS4 P49798 VAR_051795 p.Ala195Ser Polymorphism rs14665 - RGS7BP Q6MZT1 VAR_032334 p.Ile255Val Polymorphism rs889248 - RGS7 P49802 VAR_057153 p.Met137Leu Polymorphism rs12746550 - RGS7 P49802 VAR_060604 p.Gln409His Polymorphism rs17851953 - RGS9BP Q6ZS82 VAR_032333 p.Ala96Ser Polymorphism rs259290 - RGS9 O75916 VAR_017912 p.Trp299Arg Disease - Prolonged electroretinal response suppression (PERRS) [MIM:608415] RGS9 O75916 VAR_051796 p.Ser258Leu Polymorphism rs12452285 - RGSL1 A5PLK6 VAR_046356 p.Glu5Asp Polymorphism rs12083859 - RGSL1 A5PLK6 VAR_046357 p.Trp256Cys Polymorphism rs647224 - RHAG Q02094 VAR_006921 p.Ser79Asn Disease - Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] RHAG Q02094 VAR_015855 p.Val270Ile Disease rs16879498 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] RHAG Q02094 VAR_015856 p.Gly279Glu Disease rs28933991 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] RHAG Q02094 VAR_015857 p.Gly280Arg Disease - Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] RHAG Q02094 VAR_015858 p.Gly380Val Disease - Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] RHAG Q02094 VAR_047999 p.Asn242Asp Polymorphism rs1058063 - RHBDD1 Q8TEB9 VAR_034454 p.Ala110Thr Polymorphism rs35731955 - RHBDD2 Q6NTF9 VAR_051581 p.Arg85His Polymorphism rs11547498 - RHBDD3 Q9Y3P4 VAR_021952 p.Thr86Met Polymorphism rs2272902 - RHBDD3 Q9Y3P4 VAR_051582 p.His227Arg Polymorphism rs2231397 - RHBDF1 Q96CC6 VAR_044006 p.Arg265Trp Polymorphism rs3213511 - RHBDF2 Q6PJF5 VAR_044125 p.Pro208Leu Polymorphism rs3744045 - RHBDF2 Q6PJF5 VAR_044126 p.Ala249Thr Polymorphism rs34814954 - RHBDF2 Q6PJF5 VAR_044127 p.Asp528Tyr Polymorphism rs11553545 - RHBDL2 Q9NX52 VAR_020328 p.Leu273Met Polymorphism rs2147914 - RHBDL3 P58872 VAR_024593 p.Val255Met Polymorphism rs4795690 - RHBG Q9H310 VAR_031497 p.Gly76Asp Polymorphism rs2245623 - RHBG Q9H310 VAR_031498 p.Val143Asp Polymorphism rs11586833 - RHBG Q9H310 VAR_031499 p.Gly315Arg Polymorphism rs3748569 - RHBG Q9H310 VAR_053637 p.Cys339Arg Polymorphism rs3748567 - RHCE P18577 VAR_006911 p.Trp16Cys Polymorphism - - RHCE P18577 VAR_006912 p.Ala36Thr Polymorphism - - RHCE P18577 VAR_006913 p.Gln41Arg Polymorphism - - RHCE P18577 VAR_006914 p.Leu60Ile Polymorphism - - RHCE P18577 VAR_006915 p.Asn68Ser Polymorphism rs1053344 - RHCE P18577 VAR_006916 p.Pro103Ser Polymorphism rs676785 - RHCE P18577 VAR_006917 p.Pro226Ala Polymorphism rs609320 - RHCE P18577 VAR_006918 p.Leu245Val Polymorphism rs1053361 - RHCE P18577 VAR_013301 p.Arg154Thr Unclassified - - RHCE P18577 VAR_013302 p.Gln233Glu Unclassified - - RHCE P18577 VAR_013303 p.Met238Val Unclassified - - RHCE P18577 VAR_055260 p.Ala127Val Polymorphism rs1053346 - RHCE P18577 VAR_055261 p.Gly128Asp Polymorphism rs1053347 - RHCE P18577 VAR_055262 p.Thr182Ser Polymorphism rs1053350 - RHCE P18577 VAR_055263 p.Asn198Lys Polymorphism rs1053354 - RHCE P18577 VAR_055264 p.His323Pro Polymorphism rs1053366 - RHCE P18577 VAR_055265 p.Ile325Ser Polymorphism rs1053367 - RHCE P18577 VAR_055266 p.His329Asp Polymorphism rs1053370 - RHCE P18577 VAR_055267 p.His329Arg Polymorphism rs1053371 - RHCE P18577 VAR_055268 p.Ser330Tyr Polymorphism rs1053372 - RHCE P18577 VAR_055269 p.Ile331Asn Polymorphism rs1053373 - RHCE P18577 VAR_057987 p.Arg263Gly Polymorphism rs1132763 - RHCE P18577 VAR_057988 p.Met267Lys Polymorphism rs1132764 - RHCE P18577 VAR_057989 p.Val398Glu Polymorphism rs630612 - RHCG Q9UBD6 VAR_031496 p.Arg202Cys Polymorphism rs17807723 - RHD Q02161 VAR_006919 p.Leu110Pro Polymorphism - - RHD Q02161 VAR_006920 p.Met218Ile Polymorphism - - RHD Q02161 VAR_013304 p.Phe223Val Unclassified - - RHD Q02161 VAR_013305 p.Glu233Gln Polymorphism rs1053359 - RHD Q02161 VAR_013306 p.Val238Met Polymorphism rs1053360 - RHD Q02161 VAR_013307 p.Val245Leu Unclassified - - RHD Q02161 VAR_034455 p.Trp16Cys Polymorphism rs586178 - RHD Q02161 VAR_034456 p.Glu193Lys Polymorphism rs17418091 - RHD Q02161 VAR_034457 p.Thr201Arg Polymorphism rs17418098 - RHD Q02161 VAR_035615 p.Ser103Cys Unclassified - A breast cancer sample RHD Q02161 VAR_047996 p.Gly263Arg Polymorphism rs3118454 - RHD Q02161 VAR_047997 p.Val306Ile Polymorphism rs590813 - RHD Q02161 VAR_047998 p.Tyr311Cys Polymorphism rs590787 - RHEB Q15382 VAR_036310 p.Glu139Lys Unclassified - A colorectal cancer sample RHOBTB3 O94955 VAR_018481 p.Pro21Arg Polymorphism rs2302980 - RHOBTB3 O94955 VAR_018482 p.Asn262Asp Polymorphism rs34899 - RHOBTB3 O94955 VAR_030490 p.Arg20Gln Polymorphism rs17855649 - RHOC P08134 VAR_051974 p.Asp120His Polymorphism rs11538959 - RHOD O00212 VAR_058408 p.Cys134Arg Polymorphism rs4930409 - RHO P08100 VAR_004765 p.Thr4Lys Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004766 p.Asn15Ser Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004767 p.Thr17Met Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004768 p.Pro23His Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004769 p.Pro23Leu Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004770 p.Gln28His Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004771 p.Leu40Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004772 p.Met44Thr Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004773 p.Phe45Leu Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004774 p.Leu46Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004775 p.Gly51Ala Polymorphism - - RHO P08100 VAR_004776 p.Gly51Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004777 p.Gly51Val Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004778 p.Pro53Arg Disease rs28933395 Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004779 p.Thr58Arg Disease rs28933394 Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004781 p.Val87Asp Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004782 p.Gly89Asp Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004783 p.Gly90Asp Disease - Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445] RHO P08100 VAR_004784 p.Thr94Ile Disease - Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445] RHO P08100 VAR_004785 p.Val104Ile Polymorphism - - RHO P08100 VAR_004786 p.Gly106Arg Disease rs28933994 Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004787 p.Gly106Trp Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004788 p.Gly109Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004789 p.Cys110Phe Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004790 p.Cys110Tyr Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004791 p.Gly114Asp Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004792 p.Leu125Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004793 p.Ser127Phe Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004794 p.Leu131Pro Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004795 p.Arg135Gly Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004796 p.Arg135Leu Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004797 p.Arg135Trp Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004798 p.Cys140Ser Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004799 p.Glu150Lys Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004800 p.Ala164Glu Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004801 p.Ala164Val Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004802 p.Cys167Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004803 p.Pro171Leu Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004804 p.Pro171Gln Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004805 p.Pro171Ser Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004806 p.Tyr178Cys Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004807 p.Tyr178Asn Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004808 p.Glu181Lys Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004809 p.Gly182Ser Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004810 p.Ser186Pro Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004811 p.Gly188Glu Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004812 p.Gly188Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004813 p.Asp190Asn Disease rs28933992 Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004814 p.Asp190Gly Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004815 p.Asp190Tyr Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004816 p.Met207Arg Disease rs28933995 Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004817 p.Val209Met Unclassified - - RHO P08100 VAR_004818 p.His211Pro Disease rs28933993 Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004819 p.His211Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004820 p.Met216Lys Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004821 p.Phe220Cys Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004822 p.Cys222Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004825 p.Pro267Leu Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004826 p.Pro267Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004827 p.Ala292Glu Disease - Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445] RHO P08100 VAR_004828 p.Lys296Glu Disease rs29001653 Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004829 p.Ser297Arg Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004830 p.Thr342Met Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004831 p.Val345Leu Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004832 p.Val345Met Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004833 p.Pro347Ala Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004834 p.Pro347Leu Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004835 p.Pro347Gln Disease - Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004836 p.Pro347Arg Disease rs29001566 Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHO P08100 VAR_004837 p.Pro347Ser Disease rs29001637 Retinitis pigmentosa type 4 (RP4) [MIM:613731] RHOT2 Q8IXI1 VAR_026637 p.Arg245Gln Polymorphism rs1139897 - RHOT2 Q8IXI1 VAR_026638 p.Arg425Cys Polymorphism rs3177338 - RHOU Q7L0Q8 VAR_051975 p.Thr121Ala Polymorphism rs3820264 - RHOXF1 Q8NHV9 VAR_049587 p.Arg172His Polymorphism rs2301977 - RHPN2 Q8IUC4 VAR_061996 p.Arg70Gln Polymorphism rs28626308 - RHPN2 Q8IUC4 VAR_061997 p.Ala342Pro Polymorphism rs28407794 - RIBC2 Q9H4K1 VAR_028812 p.Arg180Cys Polymorphism rs2142661 - RIBC2 Q9H4K1 VAR_028813 p.Phe195Leu Polymorphism rs1022478 - RIBC2 Q9H4K1 VAR_028814 p.Arg262Gln Polymorphism rs2072770 - RIC3 Q7Z5B4 VAR_034943 p.Pro57His Polymorphism rs17855498 - RIC3 Q7Z5B4 VAR_036391 p.Gly346Val Unclassified - A colorectal cancer sample RIC3 Q7Z5B4 VAR_062208 p.Cys130Tyr Polymorphism rs55990541 - RICTOR Q6R327 VAR_051320 p.Ser837Phe Polymorphism rs2043112 - RIF1 Q5UIP0 VAR_022788 p.Gly836Ser Polymorphism rs2444263 - RIF1 Q5UIP0 VAR_022789 p.Val1362Met Polymorphism rs2123465 - RIF1 Q5UIP0 VAR_022790 p.Arg1686Gly Polymorphism rs3732305 - RIF1 Q5UIP0 VAR_022791 p.Val1862Ile Polymorphism rs2444258 - RIF1 Q5UIP0 VAR_022792 p.Asn2021Tyr Polymorphism rs2444257 - RIF1 Q5UIP0 VAR_022793 p.Met2165Arg Polymorphism rs16830057 - RIF1 Q5UIP0 VAR_022794 p.Leu2418Val Polymorphism rs1065177 - RIF1 Q5UIP0 VAR_035983 p.Glu1784Lys Unclassified - A breast cancer sample RIF1 Q5UIP0 VAR_035984 p.Asp1955His Unclassified - A breast cancer sample RILP Q96NA2 VAR_034417 p.Arg281Gln Polymorphism rs34982553 - RILP Q96NA2 VAR_051321 p.Ala81Thr Polymorphism rs9909321 - RIMBP2 O15034 VAR_057714 p.Pro593Arg Polymorphism rs2292664 - RIMBP2 O15034 VAR_057715 p.Asp888Asn Polymorphism rs11060869 - RIMBP3 Q9UFD9 VAR_028969 p.Arg1513Cys Polymorphism rs469096 - RIMS1 Q86UR5 VAR_016804 p.Arg820His Disease - Cone-rod dystrophy type 7 (CORD7) [MIM:603649] RIN2 Q8WYP3 VAR_024694 p.Ser197Thr Polymorphism rs3803981 - RIN2 Q8WYP3 VAR_052945 p.Ala643Thr Polymorphism rs199603 - RIN3 Q8TB24 VAR_046645 p.Glu111Lys Polymorphism rs2274542 - RIN3 Q8TB24 VAR_046646 p.His215Pro Polymorphism rs3829947 - RIN3 Q8TB24 VAR_046647 p.Thr425Met Polymorphism rs3742717 - RIN3 Q8TB24 VAR_046648 p.Gly613Ala Polymorphism rs12434929 - RIN3 Q8TB24 VAR_052946 p.Thr425Ile Polymorphism rs3742717 - RIN3 Q8TB24 VAR_059960 p.His215Leu Polymorphism rs3829947 - RIN3 Q8TB24 VAR_059961 p.His215Arg Polymorphism rs3829947 - RINL Q6ZS11 VAR_038926 p.Pro288Leu Polymorphism rs8110393 - RINT1 Q6NUQ1 VAR_034418 p.Phe668Ser Polymorphism rs35971380 - RINT1 Q6NUQ1 VAR_034419 p.Pro759Leu Polymorphism rs34310648 - RINT1 Q6NUQ1 VAR_051322 p.Ser40Cys Polymorphism rs11556986 - RIOK1 Q9BRS2 VAR_061777 p.Val375Ile Polymorphism rs56067778 - RIOK2 Q9BVS4 VAR_031597 p.His144Tyr Polymorphism rs17849382 - RIOK2 Q9BVS4 VAR_031598 p.Gly349Arg Polymorphism rs160632 - RIOK2 Q9BVS4 VAR_031599 p.Asn397Ser Polymorphism rs12188395 - RIOK2 Q9BVS4 VAR_042347 p.Ser96Cys Polymorphism rs2544773 - RIOK2 Q9BVS4 VAR_042348 p.His144Arg Polymorphism rs35165987 - RIOK2 Q9BVS4 VAR_042349 p.Arg155His Polymorphism rs34916955 - RIOK2 Q9BVS4 VAR_042350 p.Val175Ile Polymorphism rs35713904 - RIOK2 Q9BVS4 VAR_042351 p.Ile216Thr Unclassified - A renal clear cell carcinoma sample RIOK2 Q9BVS4 VAR_042352 p.Met244Val Polymorphism rs33996030 - RIOK2 Q9BVS4 VAR_042353 p.Glu409Asp Polymorphism rs35829000 - RIOK2 Q9BVS4 VAR_042354 p.Arg507His Polymorphism rs34555783 - RIOK3 O14730 VAR_042355 p.Leu336Val Polymorphism rs35401850 - RIOK3 O14730 VAR_042356 p.Arg441Gln Polymorphism rs33969048 - RIOK3 O14730 VAR_042357 p.Ser447Leu Polymorphism rs56282762 - RIPK1 Q13546 VAR_021109 p.Glu234Lys Polymorphism rs17548383 - RIPK1 Q13546 VAR_041039 p.Ala64Val Unclassified - A colorectal adenocarcinoma sample RIPK1 Q13546 VAR_041040 p.Val81Ile Unclassified - A colorectal adenocarcinoma sample RIPK1 Q13546 VAR_041041 p.Ala220Val Unclassified - A colorectal adenocarcinoma sample RIPK1 Q13546 VAR_041042 p.Ala404Ser Polymorphism rs34872409 - RIPK1 Q13546 VAR_041043 p.Ala443Val Polymorphism rs35722193 - RIPK1 Q13546 VAR_041044 p.Ala569Val Polymorphism rs55861377 - RIPK1 Q13546 VAR_058285 p.Ala438Val Polymorphism rs3173519 - RIPK2 O43353 VAR_041045 p.Ile259Thr Polymorphism rs2230801 - RIPK2 O43353 VAR_041046 p.Leu268Val Polymorphism rs35004667 - RIPK2 O43353 VAR_041047 p.Lys313Asn Polymorphism rs35395048 - RIPK3 Q9Y572 VAR_041048 p.Thr300Met Polymorphism rs34106261 - RIPK3 Q9Y572 VAR_041049 p.Pro492Gln Polymorphism rs3212254 - RIPK3 Q9Y572 VAR_051664 p.Glu260Val Polymorphism rs7153640 - RIPK4 P57078 VAR_030160 p.Ala12Gly Polymorphism rs6586239 - RIPK4 P57078 VAR_030161 p.Ser177Asn Polymorphism rs12482626 - RIPK4 P57078 VAR_041050 p.Ile462Asn Polymorphism - - RIPK4 P57078 VAR_041051 p.Val463Met Polymorphism - - RIPK4 P57078 VAR_041052 p.Asn562Tyr Polymorphism - - RIPK4 P57078 VAR_041053 p.Arg669His Polymorphism - - RIPK4 P57078 VAR_041054 p.Pro749Ser Polymorphism - - RITA Q96K30 VAR_033175 p.Thr220Lys Polymorphism rs34831139 - RITA Q96K30 VAR_050865 p.Ser113Trp Polymorphism rs16942601 - RLBP1 P12271 VAR_005140 p.Arg151Gln Disease rs28933989 Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000] RLBP1 P12271 VAR_015172 p.Arg234Trp Disease rs28933990 Bothnia retinal dystrophy (BRD) [MIM:607475] RLBP1 P12271 VAR_037317 p.Met226Lys Unclassified - - RLF Q13129 VAR_052739 p.Arg668Lys Polymorphism rs35189918 - RLF Q13129 VAR_052740 p.Val932Ala Polymorphism rs35563960 - RLF Q13129 VAR_052741 p.Gly957Asp Polymorphism rs35042446 - RLF Q13129 VAR_052742 p.Glu1784Asp Polymorphism rs10889205 - RLF Q13129 VAR_061929 p.Pro1629Leu Polymorphism rs34123123 - RLF Q13129 VAR_061930 p.Gln1685Glu Polymorphism rs34141181 - RLN1 P04808 VAR_011962 p.Lys28Met Polymorphism rs618066 - RLN2 P04090 VAR_022124 p.Pro68Gln Polymorphism rs2273783 - RLN2 P04090 VAR_034444 p.Met28Lys Polymorphism rs618066 - RLN2 P04090 VAR_050007 p.Val12Phe Polymorphism rs2020050 - RMDN1 Q96DB5 VAR_049028 p.Lys52Asn Polymorphism rs6980476 - RMDN2 Q96LZ7 VAR_032316 p.Gly259Asp Polymorphism rs4670800 - RMDN3 Q96TC7 VAR_049029 p.Gln33His Polymorphism rs11558807 - RMI1 Q9H9A7 VAR_025556 p.Tyr100His Polymorphism rs17855932 - RMI1 Q9H9A7 VAR_025557 p.Asn455Ser Polymorphism rs1982151 - RMND1 Q9NWS8 VAR_025754 p.Thr132Met Polymorphism rs3734800 - RMND1 Q9NWS8 VAR_051864 p.Ser42Ile Polymorphism rs11550103 - RMND1 Q9NWS8 VAR_051865 p.Arg47His Polymorphism rs6934360 - RNASE10 Q5GAN6 VAR_052198 p.Ser131Asn Polymorphism rs2067648 - RNASE11 Q8TAA1 VAR_052195 p.Pro5Ser Polymorphism rs17113756 - RNASE11 Q8TAA1 VAR_052196 p.Thr74Ser Polymorphism rs35818240 - RNASE13 Q5GAN3 VAR_036874 p.Ser139Ala Polymorphism rs2277847 - RNASE2 P10153 VAR_013150 p.His156Asn Unclassified - - RNASE2 P10153 VAR_059820 p.His100Gln Polymorphism rs8012891 - RNASE3 P12724 VAR_013149 p.Thr124Arg Polymorphism rs2073342 - RNASE3 P12724 VAR_014109 p.Arg72Cys Polymorphism - - RNASE3 P12724 VAR_029017 p.Gly130Arg Polymorphism rs12147890 - RNASE4 P34096 VAR_024618 p.Thr16Ser Polymorphism rs3748338 - RNASE6 Q93091 VAR_012048 p.Arg89Gln Polymorphism rs1045922 - RNASE7 Q9H1E1 VAR_024619 p.Ala103Pro Polymorphism rs1263872 - RNASE7 Q9H1E1 VAR_024620 p.His116Tyr Polymorphism rs1243469 - RNASE8 Q8TDE3 VAR_052194 p.Pro10Ser Polymorphism rs12437266 - RNASE9 P60153 VAR_034473 p.Ser204Pro Polymorphism rs1243647 - RNASE9 P60153 VAR_052197 p.Phe148Ser Polymorphism rs12590446 - RNASEH1 O60930 VAR_023469 p.Leu4Phe Polymorphism rs1136545 - RNASEH2A O75792 VAR_024617 p.Leu202Ser Polymorphism rs7247284 - RNASEH2A O75792 VAR_027377 p.Gly37Ser Disease - Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333] RNASEH2A O75792 VAR_027378 p.Ala258Gly Polymorphism rs15389 - RNASEH2B Q5TBB1 VAR_027280 p.Leu60Arg Disease - Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027281 p.His86Arg Disease - Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027282 p.Lys162Thr Disease - Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027283 p.Thr163Ile Disease - Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027284 p.Ala177Thr Disease - Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027285 p.Val185Gly Disease - Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] RNASEH2B Q5TBB1 VAR_027286 p.Tyr219His Disease - Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] RNASEH2C Q8TDP1 VAR_027287 p.Arg69Trp Disease - Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329] RNASEH2C Q8TDP1 VAR_027288 p.Lys143Ile Disease - Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329] RNASEL Q05823 VAR_012056 p.Arg462Gln Polymorphism rs486907 - RNASEL Q05823 VAR_012057 p.Asp541Glu Polymorphism rs627928 - RNASEL Q05823 VAR_013509 p.Gly59Ser Polymorphism - - RNASEL Q05823 VAR_013510 p.Ser406Phe Polymorphism - - RNASEL Q05823 VAR_042358 p.Ile97Leu Polymorphism rs56250729 - RNASEL Q05823 VAR_042359 p.Ala289Thr Polymorphism rs35553278 - RNASEL Q05823 VAR_042360 p.Arg592His Polymorphism rs35896902 - RNASET2 O00584 VAR_013004 p.Arg236Trp Polymorphism rs11159 - RNASET2 O00584 VAR_063596 p.Cys184Arg Disease - Leukoencephalopathy cystic without megalencephaly (LCWM) [MIM:612951] RND1 Q92730 VAR_020188 p.Pro44Arg Polymorphism rs2270577 - RNF10 Q8N5U6 VAR_028967 p.Leu332Phe Polymorphism rs17852961 - RNF10 Q8N5U6 VAR_028968 p.Glu433Asp Polymorphism rs16950277 - RNF111 Q6ZNA4 VAR_031185 p.Asn9Lys Polymorphism rs2899642 - RNF111 Q6ZNA4 VAR_057216 p.Ala718Thr Polymorphism rs34086812 - RNF113B Q8IZP6 VAR_052104 p.Val92Met Polymorphism rs16955011 - RNF115 Q9Y4L5 VAR_052105 p.Gly194Arg Polymorphism rs11577731 - RNF11 Q9Y3C5 VAR_058272 p.Asp11Glu Polymorphism rs12077069 - RNF123 Q5XPI4 VAR_027561 p.Pro51Arg Polymorphism rs2960546 - RNF123 Q5XPI4 VAR_052106 p.Arg387Gln Polymorphism rs35620248 - RNF123 Q5XPI4 VAR_052107 p.Lys596Glu Polymorphism rs35726701 - RNF123 Q5XPI4 VAR_052108 p.Arg854His Polymorphism rs34823813 - RNF126 Q9BV68 VAR_057217 p.Val68Met Polymorphism rs2285751 - RNF135 Q8IUD6 VAR_031165 p.His71Gln Polymorphism rs7225888 - RNF135 Q8IUD6 VAR_031166 p.Ser108Pro Polymorphism rs7211440 - RNF135 Q8IUD6 VAR_037652 p.Arg286His Disease - Macrocephaly macrosomia facial dysmorphism syndrome (MMFD) [MIM:614192] RNF135 Q8IUD6 VAR_063495 p.Arg115Lys Polymorphism - - RNF135 Q8IUD6 VAR_063496 p.Trp415Cys Polymorphism - - RNF138 Q8WVD3 VAR_052109 p.Lys81Arg Polymorphism rs7229690 - RNF144A P50876 VAR_035375 p.Thr4Ala Polymorphism rs364891 - RNF146 Q9NTX7 VAR_065249 p.Cys25Arg Polymorphism rs10081141 - RNF148 Q8N7C7 VAR_028855 p.Phe221Leu Polymorphism rs7790381 - RNF149 Q8NC42 VAR_029455 p.Ser9Gly Polymorphism rs11123868 - RNF149 Q8NC42 VAR_029456 p.Leu344Phe Polymorphism rs17856945 - RNF149 Q8NC42 VAR_029457 p.Asp356Glu Polymorphism rs13151 - RNF149 Q8NC42 VAR_035958 p.Glu7Lys Unclassified - A breast cancer sample RNF157 Q96PX1 VAR_029458 p.Pro80His Polymorphism rs2289602 - RNF157 Q96PX1 VAR_029459 p.Gly208Arg Polymorphism rs11539879 - RNF157 Q96PX1 VAR_061817 p.Glu596Val Polymorphism rs59053255 - RNF167 Q9H6Y7 VAR_026996 p.Asn121Lys Polymorphism rs1127356 - RNF168 Q8IYW5 VAR_026997 p.Pro401Gln Polymorphism rs3796129 - RNF168 Q8IYW5 VAR_034466 p.Lys387Arg Polymorphism rs35774921 - RNF168 Q8IYW5 VAR_052110 p.Glu413Lys Polymorphism rs6790173 - RNF175 Q8N4F7 VAR_026998 p.Met159Val Polymorphism rs10517577 - RNF175 Q8N4F7 VAR_026999 p.Leu307Phe Polymorphism rs1337 - RNF175 Q8N4F7 VAR_027000 p.Ile315Met Polymorphism rs1339 - RNF175 Q8N4F7 VAR_027001 p.Ile322Asn Polymorphism rs2405432 - RNF17 Q9BXT8 VAR_024613 p.Lys346Asn Polymorphism rs1451568 - RNF17 Q9BXT8 VAR_028132 p.Gly467Ser Polymorphism rs9581180 - RNF17 Q9BXT8 VAR_028133 p.Ser501Gly Polymorphism rs9507413 - RNF17 Q9BXT8 VAR_052098 p.Ala573Pro Polymorphism rs10161760 - RNF17 Q9BXT8 VAR_052099 p.His667Arg Polymorphism rs9511451 - RNF17 Q9BXT8 VAR_052100 p.Asn1110Lys Polymorphism rs3783082 - RNF17 Q9BXT8 VAR_052101 p.Glu1380Lys Polymorphism rs9507425 - RNF181 Q9P0P0 VAR_033323 p.Tyr118His Polymorphism rs6643 - RNF182 Q8N6D2 VAR_035959 p.Val43Ala Unclassified - A colorectal cancer sample RNF182 Q8N6D2 VAR_035960 p.Pro58Leu Unclassified - A colorectal cancer sample RNF183 Q96D59 VAR_027095 p.Thr82Ala Polymorphism rs3750533 - RNF183 Q96D59 VAR_027096 p.Arg114Gln Polymorphism rs3750534 - RNF186 Q9NXI6 VAR_029460 p.Ala23Thr Polymorphism rs1541185 - RNF186 Q9NXI6 VAR_052111 p.Pro208Thr Polymorphism rs35541730 - RNF19A Q9NV58 VAR_028045 p.Gln835His Polymorphism rs9642785 - RNF207 Q6ZRF8 VAR_052112 p.Ala421Thr Polymorphism rs12073329 - RNF207 Q6ZRF8 VAR_052113 p.Asn573Ser Polymorphism rs709209 - RNF207 Q6ZRF8 VAR_052114 p.Gly603Ala Polymorphism rs846111 - RNF207 Q6ZRF8 VAR_061818 p.Arg539Cys Polymorphism rs55823245 - RNF212 Q495C1 VAR_059815 p.Val263Ile Polymorphism rs17728127 - RNF215 Q9Y6U7 VAR_032319 p.Ala322Thr Polymorphism rs5749088 - RNF217 Q8TC41 VAR_024160 p.Val89Ile Polymorphism rs475076 - RNF31 Q96EP0 VAR_052102 p.Val1061Ile Polymorphism rs2277484 - RNF32 Q9H0A6 VAR_026982 p.Arg288Gln Polymorphism rs2302148 - RNF32 Q9H0A6 VAR_026983 p.His291Gln Polymorphism rs2302147 - RNF32 Q9H0A6 VAR_026984 p.Arg307Cys Polymorphism rs2302146 - RNF38 Q9H0F5 VAR_055400 p.Ala206Thr Polymorphism - - RNF39 Q9H2S5 VAR_022723 p.Ser203Pro Polymorphism rs2074479 - RNF39 Q9H2S5 VAR_022724 p.Ala245Thr Polymorphism rs2301752 - RNF39 Q9H2S5 VAR_022725 p.Asp268Asn Polymorphism rs1057539 - RNF39 Q9H2S5 VAR_022726 p.Ala304Glu Polymorphism rs2301753 - RNF40 O75150 VAR_055021 p.Arg463His Polymorphism rs11556801 - RNF40 O75150 VAR_055022 p.Gln615Arg Polymorphism rs7195142 - RNF43 Q68DV7 VAR_030713 p.Ile47Val Polymorphism rs3744093 - RNF43 Q68DV7 VAR_030714 p.Arg117His Polymorphism rs2257205 - RNF43 Q68DV7 VAR_030715 p.Arg221Gln Polymorphism rs2285990 - RNF43 Q68DV7 VAR_030716 p.Pro231Leu Polymorphism rs2680701 - RNF43 Q68DV7 VAR_030717 p.Leu418Met Polymorphism rs2526374 - RNF43 Q68DV7 VAR_030718 p.Pro686Arg Polymorphism rs9652855 - RNF43 Q68DV7 VAR_052103 p.Arg343His Polymorphism rs34523089 - RNF6 Q9Y252 VAR_034465 p.Asn48Ser Polymorphism rs3910433 - RNF6 Q9Y252 VAR_052094 p.Val203Glu Polymorphism rs7990167 - RNF6 Q9Y252 VAR_052095 p.Ser623Asn Polymorphism rs17083436 - RNF6 Q9Y252 VAR_063490 p.Arg102Lys Unclassified - - RNF6 Q9Y252 VAR_063491 p.Ile164Thr Polymorphism - - RNF6 Q9Y252 VAR_063492 p.Ala242Thr Unclassified - - RNF6 Q9Y252 VAR_063493 p.Gly244Asp Unclassified - - RNF6 Q9Y252 VAR_063494 p.Arg572Gln Polymorphism - - RNF8 O76064 VAR_052096 p.Ala162Thr Polymorphism rs34338974 - RNF8 O76064 VAR_052097 p.Ile473Val Polymorphism rs1139944 - RNGTT O60942 VAR_046481 p.Arg594His Polymorphism rs17856595 - RNH1 P13489 VAR_014726 p.Pro170Leu Polymorphism rs17585 - RNLS Q5VYX0 VAR_023310 p.Glu37Asp Polymorphism rs2296545 - RNMTL1 Q9HC36 VAR_037217 p.Ala8Ser Polymorphism rs2273454 - RNMTL1 Q9HC36 VAR_037218 p.Gly45Glu Polymorphism rs2249542 - RNMTL1 Q9HC36 VAR_037219 p.Ile185Val Polymorphism rs17854653 - RNMTL1 Q9HC36 VAR_037220 p.Glu326Gln Polymorphism rs35780267 - RNPEPL1 Q9HAU8 VAR_036046 p.Val247Met Unclassified - A colorectal cancer sample RNPEP Q9H4A4 VAR_051566 p.Val579Ile Polymorphism rs3820439 - ROBO1 Q9Y6N7 VAR_019071 p.Ser1055Asn Unclassified - A breast cancer sample ROBO1 Q9Y6N7 VAR_019072 p.Glu1533Asp Unclassified rs36055689 A breast cancer sample ROBO1 Q9Y6N7 VAR_053640 p.Val336Ala Polymorphism rs9647397 - ROBO1 Q9Y6N7 VAR_053641 p.Ser1091Asn Polymorphism rs35456279 - ROBO2 Q9HCK4 VAR_032960 p.Ile945Thr Disease - Vesicoureteral reflux type 2 (VUR2) [MIM:610878] ROBO2 Q9HCK4 VAR_032961 p.Ala1236Thr Disease - Vesicoureteral reflux type 2 (VUR2) [MIM:610878] ROBO3 Q96MS0 VAR_019073 p.Glu319Lys Disease - Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] ROBO3 Q96MS0 VAR_019074 p.Arg703Pro Disease - Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] ROBO3 Q96MS0 VAR_019075 p.Ser705Pro Disease - Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] ROBO3 Q96MS0 VAR_019119 p.Leu5Pro Disease - Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] ROBO3 Q96MS0 VAR_019120 p.Ile66Leu Disease - Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] ROBO3 Q96MS0 VAR_019121 p.Gly361Glu Disease - Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] ROBO3 Q96MS0 VAR_034474 p.Val423Met Polymorphism rs4935898 - ROBO3 Q96MS0 VAR_034475 p.Gln1369Arg Polymorphism rs35723495 - ROBO3 Q96MS0 VAR_053642 p.Arg416His Polymorphism rs3862618 - ROBO3 Q96MS0 VAR_062145 p.Pro868Leu Polymorphism rs55706177 - ROBO4 Q8WZ75 VAR_053643 p.Gln103Pro Polymorphism rs4995424 - ROBO4 Q8WZ75 VAR_053644 p.Arg669Gln Polymorphism rs4408324 - ROBO4 Q8WZ75 VAR_062146 p.Gln54Arg Polymorphism rs59648931 - ROCK1 Q13464 VAR_041055 p.Ser108Asn Polymorphism rs55811609 - ROCK1 Q13464 VAR_041056 p.Thr773Ser Polymorphism rs45562542 - ROCK1 Q13464 VAR_041057 p.Thr1112Pro Polymorphism rs35881519 - ROCK1 Q13464 VAR_041058 p.Pro1193Ser Unclassified - A lung neuroendocrine carcinoma sample ROCK1 Q13464 VAR_041059 p.Gln1217Glu Polymorphism rs2847092 - ROCK1 Q13464 VAR_041060 p.Arg1262Gln Polymorphism rs1045142 - ROCK1 Q13464 VAR_041061 p.Cys1264Arg Polymorphism rs2663698 - ROCK2 O75116 VAR_041062 p.Thr431Asn Polymorphism rs2230774 - ROCK2 O75116 VAR_041063 p.Asp601Val Polymorphism rs35768389 - ROCK2 O75116 VAR_041064 p.Ser1194Pro Unclassified - A metastatic melanoma sample ROCK2 O75116 VAR_057110 p.Lys1083Met Polymorphism rs34945852 - ROGDI Q9GZN7 VAR_038273 p.Glu59Lys Polymorphism rs2305659 - ROM1 Q03395 VAR_006896 p.Pro60Thr Polymorphism - - ROM1 Q03395 VAR_006897 p.Thr108Met Polymorphism - - ROM1 Q03395 VAR_006898 p.Arg229His Polymorphism - - ROM1 Q03395 VAR_006899 p.Ala265Thr Polymorphism - - ROM1 Q03395 VAR_006900 p.Met271Thr Polymorphism - - ROM1 Q03395 VAR_008269 p.Arg16His Polymorphism - - ROM1 Q03395 VAR_008270 p.Gly75Asp Polymorphism - - ROM1 Q03395 VAR_008271 p.Gly118Ala Polymorphism rs1799959 - ROM1 Q03395 VAR_008272 p.Arg242Gln Polymorphism - - ROMO1 P60602 VAR_014127 p.Ala28Pro Polymorphism rs1044521 - ROPN1L Q96C74 VAR_035442 p.Asn103Lys Polymorphism rs35573613 - ROPN1L Q96C74 VAR_035443 p.Pro156Arg Polymorphism rs17851209 - ROPN1L Q96C74 VAR_057789 p.Ala113Val Polymorphism rs2303986 - ROR1 Q01973 VAR_035713 p.Glu562Asp Unclassified - A breast cancer sample ROR1 Q01973 VAR_041779 p.Gly144Glu Unclassified - A metastatic melanoma sample ROR1 Q01973 VAR_041780 p.Phe150Leu Unclassified - An ovarian mucinous carcinoma sample ROR1 Q01973 VAR_041781 p.Ile301Val Unclassified - A renal clear cell carcinoma sample ROR1 Q01973 VAR_041782 p.Thr518Met Polymorphism rs7527017 - ROR1 Q01973 VAR_041783 p.Arg567Ile Unclassified - A colorectal adenocarcinoma sample ROR1 Q01973 VAR_041784 p.Gly624Arg Polymorphism rs55832740 - ROR1 Q01973 VAR_041785 p.Tyr646Cys Polymorphism rs34109134 - ROR1 Q01973 VAR_041786 p.Ser776Asn Unclassified - A colorectal adenocarcinoma sample ROR2 Q01974 VAR_010768 p.Arg184Cys Disease - Robinow syndrome autosomal recessive (RRS) [MIM:268310] ROR2 Q01974 VAR_010769 p.Arg189Trp Disease - Robinow syndrome autosomal recessive (RRS) [MIM:268310] ROR2 Q01974 VAR_010770 p.Arg366Trp Disease - Robinow syndrome autosomal recessive (RRS) [MIM:268310] ROR2 Q01974 VAR_010771 p.Asn620Lys Disease - Robinow syndrome autosomal recessive (RRS) [MIM:268310] ROR2 Q01974 VAR_010911 p.Cys182Tyr Disease - Robinow syndrome autosomal recessive (RRS) [MIM:268310] ROR2 Q01974 VAR_010912 p.Thr245Ala Polymorphism rs10820900 - ROR2 Q01974 VAR_010913 p.Val819Ile Polymorphism rs10761129 - ROR2 Q01974 VAR_041787 p.Arg244Gln Polymorphism rs55737262 - ROR2 Q01974 VAR_041788 p.His349Asp Polymorphism rs55983376 - ROR2 Q01974 VAR_041789 p.Gly490Ala Polymorphism rs56197744 - ROR2 Q01974 VAR_041790 p.Arg530Gln Polymorphism rs35852786 - ROR2 Q01974 VAR_041791 p.Val542Met Unclassified - A colorectal adenocarcinoma sample ROR2 Q01974 VAR_041792 p.Pro548Ser Polymorphism rs35764413 - ROR2 Q01974 VAR_041793 p.Ser557Leu Polymorphism rs56099091 - ROR2 Q01974 VAR_041794 p.Asp644Asn Polymorphism rs55798732 - ROR2 Q01974 VAR_041795 p.Asp672Asn Polymorphism rs55651110 - ROR2 Q01974 VAR_041796 p.Gly695Arg Polymorphism rs34431454 - ROR2 Q01974 VAR_041797 p.Arg738Cys Polymorphism rs56231927 - ROR2 Q01974 VAR_041798 p.Ser762Leu Polymorphism rs34491822 - ROR2 Q01974 VAR_041799 p.Asp935Glu Polymorphism rs41277835 - RORA P35398 VAR_036062 p.Pro18Ser Unclassified - A colorectal cancer sample ROS1 P08922 VAR_030648 p.Thr145Pro Polymorphism rs1998206 - ROS1 P08922 VAR_030649 p.Arg167Gln Polymorphism rs2243380 - ROS1 P08922 VAR_030650 p.Ser1109Leu Polymorphism rs2229079 - ROS1 P08922 VAR_030651 p.Phe1439Ser Polymorphism rs17079086 - ROS1 P08922 VAR_030652 p.Asp1776His Polymorphism rs12664076 - ROS1 P08922 VAR_030653 p.Glu1902Lys Polymorphism rs9489124 - ROS1 P08922 VAR_030654 p.Arg2039His Polymorphism rs3752566 - ROS1 P08922 VAR_030655 p.Asp2213Asn Polymorphism rs529038 - ROS1 P08922 VAR_030656 p.Ser2229Cys Polymorphism rs619203 - ROS1 P08922 VAR_030657 p.Asn2240Lys Polymorphism rs210968 - ROS1 P08922 VAR_041442 p.Asn13Ser Polymorphism rs45606237 - ROS1 P08922 VAR_041443 p.Gly126Val Polymorphism rs34245787 - ROS1 P08922 VAR_041444 p.Pro224Ser Polymorphism rs55959124 - ROS1 P08922 VAR_041445 p.Tyr338Cys Polymorphism rs55707658 - ROS1 P08922 VAR_041446 p.Ser370Pro Polymorphism rs56274823 - ROS1 P08922 VAR_041447 p.Tyr419His Unclassified - A gastric adenocarcinoma sample ROS1 P08922 VAR_041448 p.Ile537Met Polymorphism rs28639589 - ROS1 P08922 VAR_041449 p.Ser653Phe Polymorphism rs34203286 - ROS1 P08922 VAR_041450 p.Gln865His Unclassified - A lung large cell carcinoma sample ROS1 P08922 VAR_041451 p.Tyr1239Phe Polymorphism rs56192249 - ROS1 P08922 VAR_041452 p.Tyr1353Ser Polymorphism rs35269727 - ROS1 P08922 VAR_041453 p.Cys1370Arg Polymorphism rs36106063 - ROS1 P08922 VAR_041454 p.Arg1506Gly Polymorphism rs35841892 - ROS1 P08922 VAR_041455 p.His1999Asn Polymorphism rs45569132 - ROS1 P08922 VAR_041456 p.Lys2003Arg Unclassified - A colorectal adenocarcinoma sample ROS1 P08922 VAR_041457 p.Phe2138Ser Unclassified - A gastric adenocarcinoma sample ROS1 P08922 VAR_041458 p.Asp2203Asn Polymorphism - - ROS1 P08922 VAR_041459 p.Asp2213Glu Polymorphism - - ROS1 P08922 VAR_041460 p.Lys2228Gln Polymorphism rs529156 - ROS1 P08922 VAR_049712 p.Asn790Ser Polymorphism rs34582164 - ROS1 P08922 VAR_049713 p.Lys2328Arg Polymorphism rs35932630 - RP1L1 Q8IWN7 VAR_017700 p.Pro44Ala Polymorphism - - RP1L1 Q8IWN7 VAR_017701 p.Arg56Cys Polymorphism - - RP1L1 Q8IWN7 VAR_017702 p.Thr112Ser Polymorphism rs6601495 - RP1L1 Q8IWN7 VAR_017703 p.Arg136His Polymorphism - - RP1L1 Q8IWN7 VAR_017704 p.Ala487Val Polymorphism - - RP1L1 Q8IWN7 VAR_017705 p.Ala624Thr Polymorphism - - RP1L1 Q8IWN7 VAR_017706 p.Leu792Pro Polymorphism rs35602868 - RP1L1 Q8IWN7 VAR_017707 p.Glu795Lys Polymorphism - - RP1L1 Q8IWN7 VAR_017708 p.Arg860Trp Polymorphism - - RP1L1 Q8IWN7 VAR_017709 p.Arg1146Trp Polymorphism rs4840502 - RP1L1 Q8IWN7 VAR_017710 p.Ala1285Ser Polymorphism - - RP1L1 Q8IWN7 VAR_017711 p.Gly1319Ala Polymorphism rs4840501 - RP1L1 Q8IWN7 VAR_017712 p.Glu1324Gly Polymorphism rs4240659 - RP1L1 Q8IWN7 VAR_017715 p.Gly1335Arg Polymorphism rs61503212 - RP1L1 Q8IWN7 VAR_017720 p.Gly1420Glu Polymorphism - - RP1L1 Q8IWN7 VAR_017721 p.Ala1563Val Polymorphism - - RP1L1 Q8IWN7 VAR_017722 p.Pro1575Arg Polymorphism - - RP1L1 Q8IWN7 VAR_017723 p.Ser1585Leu Polymorphism - - RP1L1 Q8IWN7 VAR_017725 p.Ala1789Val Polymorphism - - RP1L1 Q8IWN7 VAR_017726 p.Gly1896Asp Polymorphism - - RP1L1 Q8IWN7 VAR_017728 p.Asp1969Val Polymorphism - - RP1L1 Q8IWN7 VAR_017729 p.Ala2026Glu Polymorphism rs11785822 - RP1L1 Q8IWN7 VAR_017730 p.Thr2034Ala Polymorphism - - RP1L1 Q8IWN7 VAR_017731 p.Gly2149Val Polymorphism - - RP1L1 Q8IWN7 VAR_017732 p.Gln2168His Polymorphism - - RP1L1 Q8IWN7 VAR_017733 p.Glu2220Lys Polymorphism - - RP1L1 Q8IWN7 VAR_017734 p.Glu2251Lys Polymorphism rs4354268 - RP1L1 Q8IWN7 VAR_017735 p.Pro2279Leu Polymorphism - - RP1L1 Q8IWN7 VAR_017736 p.Glu2322Gly Polymorphism - - RP1L1 Q8IWN7 VAR_017737 p.Gly2365Arg Polymorphism - - RP1L1 Q8IWN7 VAR_017738 p.His2415Arg Polymorphism - - RP1L1 Q8IWN7 VAR_047388 p.Arg1547Ser Polymorphism rs4840498 - RP1L1 Q8IWN7 VAR_056979 p.His222Pro Polymorphism rs4388421 - RP1L1 Q8IWN7 VAR_056980 p.Glu1340Gly Polymorphism rs9657518 - RP1L1 Q8IWN7 VAR_056981 p.Glu2171Lys Polymorphism rs4354268 - RP1L1 Q8IWN7 VAR_065126 p.Arg45Trp Disease - Occult macular dystrophy (OCMD) [MIM:613587] RP1L1 Q8IWN7 VAR_065127 p.Trp960Arg Disease - Occult macular dystrophy (OCMD) [MIM:613587] RP1 P56715 VAR_007810 p.Arg872His Polymorphism rs444772 - RP1 P56715 VAR_007811 p.Asn985Tyr Polymorphism rs2293869 - RP1 P56715 VAR_007812 p.Ala1670Thr Polymorphism rs446227 - RP1 P56715 VAR_007813 p.Ser1691Pro Polymorphism rs414352 - RP1 P56715 VAR_007814 p.Cys2033Tyr Polymorphism - - RP1 P56715 VAR_051323 p.Tyr251Cys Polymorphism rs16920614 - RP1 P56715 VAR_051324 p.Thr752Met Polymorphism rs28399531 - RP1 P56715 VAR_051325 p.Val945Leu Polymorphism rs16920621 - RP1 P56715 VAR_051326 p.Arg1595Gln Polymorphism rs35084330 - RP1 P56715 VAR_064182 p.Asp202Glu Disease - Retinitis pigmentosa type 1 (RP1) [MIM:180100] RP1 P56715 VAR_064183 p.Thr373Ile Disease - Retinitis pigmentosa type 1 (RP1) [MIM:180100] RP1 P56715 VAR_064466 p.Ile408Leu Polymorphism - - RP1 P56715 VAR_064467 p.Lys663Asn Disease - Retinitis pigmentosa type 1 (RP1) [MIM:180100] RP1 P56715 VAR_064468 p.Ala669Thr Disease - Retinitis pigmentosa type 1 (RP1) [MIM:180100] RP1 P56715 VAR_064469 p.Gly706Arg Polymorphism - - RP1 P56715 VAR_064470 p.Cys727Trp Polymorphism - - RP1 P56715 VAR_064471 p.Asp984Gly Disease - Retinitis pigmentosa type 1 (RP1) [MIM:180100] RP1 P56715 VAR_064472 p.Lys1370Glu Disease - Retinitis pigmentosa type 1 (RP1) [MIM:180100] RP1 P56715 VAR_064473 p.Arg1652Leu Disease - Retinitis pigmentosa type 1 (RP1) [MIM:180100] RP1 P56715 VAR_064474 p.Leu1808Pro Disease - Retinitis pigmentosa type 1 (RP1) [MIM:180100] RP2 O75695 VAR_008498 p.Cys108Gly Disease - Retinitis pigmentosa type 2 (RP2) [MIM:312600] RP2 O75695 VAR_008499 p.Arg118His Disease - Retinitis pigmentosa type 2 (RP2) [MIM:312600] RP2 O75695 VAR_008500 p.Leu253Arg Disease - Retinitis pigmentosa type 2 (RP2) [MIM:312600] RP2 O75695 VAR_014535 p.Arg282Trp Polymorphism rs1805147 - RP2 O75695 VAR_014536 p.Asp338Tyr Polymorphism rs1805148 - RP2 O75695 VAR_018069 p.Cys67Tyr Disease - Retinitis pigmentosa type 2 (RP2) [MIM:312600] RP2 O75695 VAR_018070 p.Cys86Tyr Disease - Retinitis pigmentosa type 2 (RP2) [MIM:312600] RP2 O75695 VAR_018071 p.Pro95Leu Unclassified - - RP2 O75695 VAR_018072 p.Arg118Leu Disease rs28933687 Retinitis pigmentosa type 2 (RP2) [MIM:312600] RP2 O75695 VAR_018074 p.Glu138Gly Disease - Retinitis pigmentosa type 2 (RP2) [MIM:312600] RP2 O75695 VAR_018075 p.Leu188Pro Disease - Retinitis pigmentosa type 2 (RP2) [MIM:312600] RP2 O75695 VAR_026058 p.Arg118Cys Disease - Retinitis pigmentosa type 2 (RP2) [MIM:312600] RP2 O75695 VAR_053961 p.Lys144Arg Polymorphism rs3126141 - RP9 Q8TA86 VAR_017252 p.His137Leu Disease - Retinitis pigmentosa type 9 (RP9) [MIM:180104] RP9 Q8TA86 VAR_017253 p.Asp170Gly Disease - Retinitis pigmentosa type 9 (RP9) [MIM:180104] RP9 Q8TA86 VAR_017254 p.Lys210Arg Polymorphism - - RPA1 P27694 VAR_019236 p.Thr351Ala Polymorphism rs5030755 - RPA2 P15927 VAR_023300 p.Tyr14Ser Polymorphism rs28988896 - RPA2 P15927 VAR_023301 p.Gly15Arg Polymorphism rs28988897 - RPA2 P15927 VAR_023302 p.Asn203Ser Polymorphism rs28904899 - RPA4 Q13156 VAR_019170 p.Ala33Thr Polymorphism rs2642219 - RPAIN Q86UA6 VAR_023947 p.Lys103Asn Polymorphism rs12761 - RPAP1 Q9BWH6 VAR_036469 p.Arg525Gln Unclassified - A colorectal cancer sample RPAP1 Q9BWH6 VAR_057738 p.Lys165Met Polymorphism rs2297382 - RPAP1 Q9BWH6 VAR_057739 p.Arg429Gln Polymorphism rs2289741 - RPAP1 Q9BWH6 VAR_057740 p.Arg582Gly Polymorphism rs11630901 - RPAP1 Q9BWH6 VAR_060348 p.Glu506Lys Polymorphism rs1200345 - RPAP1 Q9BWH6 VAR_060349 p.Gln825Glu Polymorphism rs8027526 - RPAP1 Q9BWH6 VAR_060350 p.Arg1108Gly Polymorphism rs7170898 - RPAP3 Q9H6T3 VAR_057354 p.Asp564Tyr Polymorphism rs11168196 - RPE65 Q16518 VAR_017126 p.Leu22Pro Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017127 p.Gly40Ser Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017128 p.Arg44Gln Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017129 p.His68Tyr Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017130 p.Arg91Trp Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_017131 p.Arg91Gln Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017132 p.Ala132Thr Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_017133 p.Tyr144Asp Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017134 p.His182Tyr Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017135 p.Val287Phe Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017136 p.Asn321Lys Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017137 p.Leu341Ser Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_017138 p.Pro363Thr Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017139 p.Tyr368His Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_017140 p.Ala393Gly Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017141 p.Glu417Gln Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_017142 p.Val452Gly Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_018151 p.Tyr431Cys Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_034477 p.Ala434Val Disease rs34627040 Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_037619 p.Arg515Trp Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060809 p.Tyr79His Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060810 p.Arg85His Unclassified - - RPE65 Q16518 VAR_060811 p.Glu95Gln Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060812 p.Glu102Lys Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060812 p.Glu102Lys Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060813 p.Glu148Asp Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060814 p.Asp167Tyr Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060814 p.Asp167Tyr Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060815 p.His182Asn Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060816 p.Tyr239Asp Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060816 p.Tyr239Asp Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060817 p.Lys294Thr Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060818 p.Cys330Tyr Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060819 p.Ala393Glu Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060820 p.Tyr435Cys Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060821 p.Gly436Val Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060822 p.Pro470Leu Disease - Leber congenital amaurosis type 2 (LCA2) [MIM:204100] RPE65 Q16518 VAR_060823 p.Val473Asp Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPE65 Q16518 VAR_060824 p.Gly528Val Disease - Retinitis pigmentosa type 20 (RP20) [MIM:613794] RPF1 Q9H9Y2 VAR_022871 p.Ser9Gly Polymorphism rs2292191 - RPF1 Q9H9Y2 VAR_048421 p.Met223Ile Polymorphism rs7528067 - RPF2 Q9H7B2 VAR_033639 p.Ala41Gly Polymorphism rs9320350 - RPF2 Q9H7B2 VAR_033640 p.Gly60Ser Polymorphism rs6909298 - RPGRIP1L Q68CZ1 VAR_039393 p.Thr615Pro Disease rs121918198 Joubert syndrome type 7 (JBTS7) [MIM:611560] RPGRIP1L Q68CZ1 VAR_039394 p.Thr677Ile Unclassified - - RPGRIP1L Q68CZ1 VAR_039395 p.Ala695Pro Disease rs121918200 Joubert syndrome type 7 (JBTS7) [MIM:611560] RPGRIP1L Q68CZ1 VAR_039396 p.Arg744Gln Polymorphism rs2302677 - RPGRIP1L Q68CZ1 VAR_039397 p.Gly1025Ser Polymorphism rs2111119 - RPGRIP1L Q68CZ1 VAR_039398 p.Asp1264Asn Polymorphism rs3213758 - RPGRIP1L Q68CZ1 VAR_063805 p.Ser659Pro Disease - COACH syndrome (COACHS) [MIM:216360] RPGRIP1L Q68CZ1 VAR_065556 p.Ala1183Gly Polymorphism rs139974543 - RPGRIP1 Q96KN7 VAR_017830 p.Lys192Glu Polymorphism rs6571751 - RPGRIP1 Q96KN7 VAR_017831 p.Ala547Ser Disease rs10151259 Cone-rod dystrophy type 13 (CORD13) [MIM:608194] RPGRIP1 Q96KN7 VAR_017832 p.Ser601Leu Polymorphism rs3748360 - RPGRIP1 Q96KN7 VAR_017833 p.Gly746Glu Disease - Leber congenital amaurosis type 6 (LCA6) [MIM:613826] RPGRIP1 Q96KN7 VAR_017834 p.Arg827Leu Disease rs28937883 Cone-rod dystrophy type 13 (CORD13) [MIM:608194] RPGRIP1 Q96KN7 VAR_017835 p.Glu1033Gln Polymorphism rs3748361 - RPGRIP1 Q96KN7 VAR_017836 p.Asp1114Gly Disease rs17103671 Leber congenital amaurosis type 6 (LCA6) [MIM:613826] RPGRIP1 Q96KN7 VAR_057772 p.Pro96Gln Polymorphism rs1040904 - RPGRIP1 Q96KN7 VAR_057773 p.Ala960Pro Polymorphism rs35810926 - RPGRIP1 Q96KN7 VAR_057774 p.Gly1240Glu Polymorphism rs34725281 - RPGRIP1 Q96KN7 VAR_065720 p.Met32Leu Polymorphism - - RPGRIP1 Q96KN7 VAR_065721 p.Ser135Arg Polymorphism - - RPGRIP1 Q96KN7 VAR_065722 p.Ala318Val Unclassified - - RPGRIP1 Q96KN7 VAR_065723 p.Arg363Thr Unclassified - - RPGRIP1 Q96KN7 VAR_065724 p.Pro585Ser Polymorphism - - RPGRIP1 Q96KN7 VAR_065725 p.Gln589His Polymorphism rs34067949 - RPGRIP1 Q96KN7 VAR_065726 p.Arg598Gln Polymorphism rs74034910 - RPGRIP1 Q96KN7 VAR_065727 p.Cys603Ser Polymorphism - - RPGRIP1 Q96KN7 VAR_065728 p.Ala635Gly Unclassified - - RPGRIP1 Q96KN7 VAR_065729 p.Thr638Ile Polymorphism - - RPGRIP1 Q96KN7 VAR_065730 p.Ala764Val Unclassified - - RPGRIP1 Q96KN7 VAR_065731 p.Thr806Ile Unclassified - - RPGRIP1 Q96KN7 VAR_065732 p.Arg812His Unclassified - - RPGRIP1 Q96KN7 VAR_065733 p.Arg814Leu Polymorphism - - RPGRIP1 Q96KN7 VAR_065734 p.Ala837Gly Unclassified - - RPGRIP1 Q96KN7 VAR_065735 p.Ile838Val Unclassified - - RPGRIP1 Q96KN7 VAR_065736 p.Ala841Thr Polymorphism - - RPGRIP1 Q96KN7 VAR_065737 p.Arg852Gln Polymorphism - - RPGRIP1 Q96KN7 VAR_065738 p.Gly883Asp Polymorphism - - RPGR Q92834 VAR_006850 p.Phe130Cys Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_006851 p.Pro235Ser Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_006852 p.Gly275Ser Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008501 p.Gly60Val Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008503 p.Ile75Val Unclassified - - RPGR Q92834 VAR_008504 p.His98Gln Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008505 p.Gly215Val Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008506 p.Cys250Arg Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008507 p.Ala262Gly Unclassified - - RPGR Q92834 VAR_008508 p.Arg425Lys Polymorphism rs1801687 - RPGR Q92834 VAR_008509 p.Ile431Val Polymorphism - - RPGR Q92834 VAR_008510 p.Gly436Asp Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_008511 p.Gly566Glu Polymorphism rs1801688 - RPGR Q92834 VAR_011561 p.Cys302Arg Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_011563 p.Thr533Met Polymorphism rs41312104 - RPGR Q92834 VAR_013624 p.Ser76Ile Polymorphism rs1801685 - RPGR Q92834 VAR_013625 p.Thr99Asn Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_013626 p.Ile289Val Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018057 p.Gly43Glu Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018058 p.Gly43Arg Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018059 p.Arg127Gly Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018060 p.Gly173Arg Disease - Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI) [MIM:300455] RPGR Q92834 VAR_018060 p.Gly173Arg Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018061 p.Cys250Tyr Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018063 p.Gly267Glu Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018064 p.Cys302Tyr Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018065 p.Asp312Asn Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018066 p.Asp312Tyr Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018067 p.Gly320Arg Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_018068 p.Asn345Asp Polymorphism rs41305223 - RPGR Q92834 VAR_025949 p.Ser152Leu Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_026127 p.Gly267Arg Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_026128 p.Glu285Gly Disease - Retinitis pigmentosa type 3 (RP3) [MIM:300029] RPGR Q92834 VAR_033259 p.Gln184His Polymorphism rs5963403 - RPIA P49247 VAR_019122 p.Ala135Val Disease - Ribose 5-phosphate isomerase deficiency (RPID) [MIM:608611] RPL10A P62906 VAR_034458 p.Thr154Pro Polymorphism rs17838763 - RPL10 P27635 VAR_006922 p.Asn202Ser Polymorphism rs4909 - RPL10 P27635 VAR_027795 p.Leu206Met Disease - Autism X-linked type 5 (AUTSX5) [MIM:300847] RPL10 P27635 VAR_027796 p.His213Gln Disease - Autism X-linked type 5 (AUTSX5) [MIM:300847] RPL11 P62913 VAR_055448 p.Leu20His Disease - Diamond-Blackfan anemia type 7 (DBA7) [MIM:612562] RPL13 P26373 VAR_051801 p.Ala112Thr Polymorphism rs9930567 - RPL13 P26373 VAR_051802 p.Thr170Pro Polymorphism rs16965839 - RPL14 P50914 VAR_013633 p.Ala138Ser Polymorphism - - RPL21 P46778 VAR_034459 p.Phe15Ser Polymorphism rs17085349 - RPL22L1 Q6P5R6 VAR_061771 p.Val97Phe Polymorphism rs13462 - RPL28 P46779 VAR_034460 p.Arg66Leu Polymorphism rs13502 - RPL35A P18077 VAR_055447 p.Val33Ile Disease - Diamond-Blackfan anemia type 5 (DBA5) [MIM:612528] RPL36AL Q969Q0 VAR_051809 p.Ile66Val Polymorphism rs3088024 - RPL36 Q9Y3U8 VAR_051804 p.Lys67Glu Polymorphism rs11556110 - RPL37 P61927 VAR_014606 p.Gly81Glu Polymorphism rs14898 - RPL3L Q92901 VAR_034461 p.Pro291Leu Polymorphism rs34265469 - RPL3 P39023 VAR_052040 p.Ile78Thr Polymorphism rs11548004 - RPL5 P46777 VAR_052009 p.Tyr210Cys Polymorphism rs11540832 - RPL5 P46777 VAR_055450 p.Gly140Ser Disease - Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561] RPL5 P46777 VAR_055451 p.Ala285Val Disease - Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561] RPL6 Q02878 VAR_025313 p.His227Arg Polymorphism rs17851813 - RPL6 Q02878 VAR_036437 p.Lys100Gln Unclassified - A colorectal cancer sample RPL6 Q02878 VAR_051810 p.Lys237Glu Polymorphism rs16942044 - RPL7A P62424 VAR_014721 p.Ala24Val Polymorphism rs12295 - RPL8 P62917 VAR_019658 p.Ile98Val Polymorphism rs17850886 - RPN2 P04844 VAR_054040 p.Leu597Phe Polymorphism rs34951322 - RPP21 Q9H633 VAR_019116 p.Gln77His Polymorphism rs6986 - RPP21 Q9H633 VAR_045986 p.Gln149Lys Polymorphism rs974963 - RPP30 P78346 VAR_051870 p.Gly12Asp Polymorphism rs11544145 - RPP38 P78345 VAR_023960 p.Glu88Asp Polymorphism rs1052157 - RPP38 P78345 VAR_023961 p.Ala114Val Polymorphism rs1132078 - RPP38 P78345 VAR_023962 p.Ala181Gly Polymorphism rs15772 - RPP38 P78345 VAR_029298 p.Ile212Thr Polymorphism rs10242 - RPP38 P78345 VAR_051811 p.Ile86Val Polymorphism rs3814171 - RPP38 P78345 VAR_051812 p.Ser202Arg Polymorphism rs12249258 - RPP38 P78345 VAR_051813 p.Arg250Gly Polymorphism rs34040166 - RPP40 O75818 VAR_055405 p.Val314Ile Polymorphism rs12332997 - RPRD1A Q96P16 VAR_037229 p.Gln21His Unclassified - A breast cancer sample RPRD2 Q5VT52 VAR_061700 p.Met351Val Polymorphism rs41273537 - RPS17 P08708 VAR_034478 p.Glu36Lys Polymorphism rs1043734 - RPS19BP1 Q86WX3 VAR_051330 p.Glu124Ala Polymorphism rs17001278 - RPS19 P39019 VAR_006924 p.Arg62Trp Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018437 p.Arg56Gln Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018438 p.Val15Phe Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018439 p.Leu18Pro Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018440 p.Pro47Leu Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018441 p.Trp52Arg Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018442 p.Thr55Met Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018443 p.Ala61Glu Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018444 p.Arg62Gln Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018445 p.Arg101His Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018446 p.Gly120Arg Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_018447 p.Leu131Pro Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_046145 p.Ala17Pro Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_046146 p.Leu18Arg Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_046148 p.Ser59Phe Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_046149 p.Leu131Arg Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055438 p.Phe21Ser Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055439 p.Trp52Cys Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055440 p.Ala57Pro Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055441 p.Leu64Pro Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055442 p.Thr76Pro Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055444 p.Gly127Glu Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS19 P39019 VAR_055445 p.Ala135Thr Disease - Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] RPS26 P62854 VAR_063580 p.Asp33Asn Disease - Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309] RPS26 P62854 VAR_063581 p.Met115Thr Disease - Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309] RPS6KA1 Q15418 VAR_021864 p.Lys335Thr Polymorphism rs2229712 - RPS6KA2 Q15349 VAR_040627 p.Glu311Lys Unclassified - A metastatic melanoma sample RPS6KA2 Q15349 VAR_040628 p.Arg732Gln Unclassified - A colorectal adenocarcinoma sample RPS6KA3 P51812 VAR_006188 p.Ile38Ser Polymorphism rs56218010 - RPS6KA3 P51812 VAR_006189 p.Gly75Val Disease - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006190 p.Val82Phe Disease - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006191 p.Arg114Trp Disease - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006192 p.His127Gln Disease - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006193 p.Asp154Tyr Disease - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006194 p.Ala225Val Disease - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006195 p.Ser227Ala Disease - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006196 p.Gly431Asp Disease - Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_006197 p.Arg729Gln Disease rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3 P51812 VAR_035627 p.Ile416Val Unclassified - A breast cancer sample RPS6KA3 P51812 VAR_040629 p.Tyr483Cys Unclassified - A gastric adenocarcinoma sample RPS6KA3 P51812 VAR_040630 p.Leu608Phe Unclassified - A glioblastoma multiforme sample RPS6KA3 P51812 VAR_040631 p.Arg723Cys Polymorphism rs35026425 - RPS6KA4 O75676 VAR_040632 p.Ser236Leu Unclassified - A breast infiltrating ductal carcinoma sample RPS6KA4 O75676 VAR_040633 p.Ser758Ala Polymorphism rs17857342 - RPS6KA5 O75582 VAR_040634 p.Asp554Asn Polymorphism rs55911249 - RPS6KA5 O75582 VAR_040635 p.Pro574Leu Polymorphism rs34604933 - RPS6KA5 O75582 VAR_040636 p.Tyr599Cys Polymorphism rs55968863 - RPS6KA5 O75582 VAR_051634 p.His190Arg Polymorphism rs34699345 - RPS6KA6 Q9UK32 VAR_030670 p.Asp692Asn Polymorphism rs6616890 - RPS6KA6 Q9UK32 VAR_040637 p.Tyr140Cys Unclassified - A lung large cell carcinoma sample RPS6KA6 Q9UK32 VAR_040638 p.Ser258Thr Unclassified - A lung adenocarcinoma sample RPS6KB1 P23443 VAR_035628 p.Gly289Glu Unclassified - A colorectal cancer sample RPS6KB1 P23443 VAR_040639 p.Met225Ile Polymorphism - - RPS6KB1 P23443 VAR_040640 p.Arg272Cys Polymorphism - - RPS6KB1 P23443 VAR_040641 p.Trp276Cys Polymorphism - - RPS6KB1 P23443 VAR_040642 p.Ser398Ala Polymorphism - - RPS6KB2 Q9UBS0 VAR_040643 p.Pro267Leu Polymorphism rs55987642 - RPS6KB2 Q9UBS0 VAR_040644 p.Val368Met Polymorphism rs55642995 - RPS6KB2 Q9UBS0 VAR_040645 p.Ala420Val Polymorphism rs13859 - RPS6KB2 Q9UBS0 VAR_040646 p.Thr443Met Unclassified - An ovarian mucinous carcinoma sample RPS6KC1 Q96S38 VAR_040647 p.Pro42Thr Polymorphism rs56087470 - RPS6KC1 Q96S38 VAR_040648 p.Glu96Lys Polymorphism rs56032860 - RPS6KC1 Q96S38 VAR_040649 p.Pro319Leu Polymorphism rs56369827 - RPS6KC1 Q96S38 VAR_040650 p.Pro424Leu Polymorphism rs56183862 - RPS6KC1 Q96S38 VAR_040651 p.Ala546Pro Polymorphism rs35281247 - RPS6KC1 Q96S38 VAR_040652 p.Leu554Ile Unclassified - A lung neuroendocrine carcinoma sample RPS6KC1 Q96S38 VAR_040653 p.Asn575Ser Polymorphism rs56060894 - RPS6KC1 Q96S38 VAR_040654 p.Gly663Ala Unclassified - An ovarian mucinous carcinoma sample RPS6KC1 Q96S38 VAR_040655 p.Leu853Phe Polymorphism rs34080597 - RPS6KC1 Q96S38 VAR_040656 p.Cys1003Tyr Unclassified - A lung adenocarcinoma sample RPS6KC1 Q96S38 VAR_040657 p.Glu1022Lys Unclassified - A breast infiltrating ductal carcinoma sample RPS6KC1 Q96S38 VAR_051635 p.Pro561Arg Polymorphism rs17020314 - RPS6KL1 Q9Y6S9 VAR_041065 p.Arg21Gln Polymorphism rs7156590 - RPS6KL1 Q9Y6S9 VAR_041066 p.Pro121Leu Polymorphism rs2286913 - RPS6KL1 Q9Y6S9 VAR_041067 p.Arg332Trp Polymorphism - - RPS6 P62753 VAR_025314 p.Lys221Arg Polymorphism rs17852447 - RPS8 P62241 VAR_051861 p.Arg110Gly Polymorphism rs11537870 - RPS9 P46781 VAR_036543 p.Val137Phe Unclassified - A breast cancer sample RPS9 P46781 VAR_052069 p.Leu25Phe Polymorphism rs41423149 - RPSA P08865 VAR_025522 p.Arg117Trp Polymorphism rs17856150 - RPTN Q6XPR3 VAR_059177 p.Ser320Gly Polymorphism rs12117644 - RPUSD1 Q9UJJ7 VAR_034883 p.Glu124Gln Polymorphism rs2272898 - RPUSD1 Q9UJJ7 VAR_034884 p.Leu247Pro Polymorphism rs3751672 - RPUSD3 Q6P087 VAR_034885 p.Asp34His Polymorphism rs17855991 - RPUSD3 Q6P087 VAR_034886 p.Ala181Pro Polymorphism rs34244989 - RPUSD3 Q6P087 VAR_059763 p.Ala173Pro Polymorphism rs34244989 - RPUSD4 Q96CM3 VAR_034887 p.Gln44Arg Polymorphism rs2282580 - RPUSD4 Q96CM3 VAR_034888 p.Asp58Gly Polymorphism rs35468281 - RPUSD4 Q96CM3 VAR_034889 p.Glu155Asp Polymorphism rs34809853 - RPUSD4 Q96CM3 VAR_034890 p.Ala209Val Polymorphism rs35157957 - RQCD1 Q92600 VAR_042429 p.Ile143Thr Polymorphism rs17856204 - RRAD P55042 VAR_049497 p.Gln66Pro Polymorphism rs7198458 - RRAS2 P62070 VAR_006848 p.Gln72Leu Unclassified - An ovarian cancer sample RRBP1 Q9P2E9 VAR_056982 p.Arg1324Leu Polymorphism rs1132274 - RREB1 Q92766 VAR_033197 p.Gly195Arg Polymorphism rs1334576 - RREB1 Q92766 VAR_033198 p.Gly783Val Polymorphism rs9502564 - RREB1 Q92766 VAR_033199 p.Asp1171Asn Polymorphism rs9379084 - RREB1 Q92766 VAR_033200 p.Gly1384Arg Polymorphism rs2281833 - RREB1 Q92766 VAR_033201 p.Leu1467Pro Polymorphism rs2256596 - RREB1 Q92766 VAR_033202 p.Ser1499Tyr Polymorphism rs35742417 - RRM1 P23921 VAR_052052 p.Lys590Gln Polymorphism rs2228123 - RRM1 P23921 VAR_052053 p.Val778Ala Polymorphism rs2229196 - RRM2B Q7LG56 VAR_025699 p.Val115Leu Unclassified - Colorectal adenocarcinomas cell line RRM2B Q7LG56 VAR_046217 p.Trp64Arg Disease - Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046219 p.Glu194Gly Disease - Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046220 p.Glu194Lys Disease - Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046221 p.Ile224Ser Disease - Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046222 p.Cys236Phe Disease - Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046223 p.Met282Ile Disease - Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_046224 p.Leu317Val Disease - Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] RRM2B Q7LG56 VAR_065122 p.Arg110His Disease - Mitochondrial DNA depletion syndrome type 8B (MTDPS8B) [MIM:612075] RRM2B Q7LG56 VAR_065123 p.Arg121His Disease - Mitochondrial DNA depletion syndrome type 8B (MTDPS8B) [MIM:612075] RRN3 Q9NYV6 VAR_051886 p.Ile348Met Polymorphism rs2941256 - RRNAD1 Q96FB5 VAR_032564 p.Val400Leu Polymorphism rs4311877 - RRP12 Q5JTH9 VAR_057756 p.Gly1145Ser Polymorphism rs2275580 - RRP12 Q5JTH9 VAR_057757 p.Arg1281Gln Polymorphism rs1048445 - RRP15 Q9Y3B9 VAR_030112 p.Lys149Asn Polymorphism rs11118075 - RRP15 Q9Y3B9 VAR_030113 p.Lys230Arg Polymorphism rs3737978 - RRP15 Q9Y3B9 VAR_053813 p.Ala32Val Polymorphism rs34358288 - RRP1 P56182 VAR_053894 p.Ile194Val Polymorphism rs34224504 - RRP1 P56182 VAR_053895 p.Lys326Arg Polymorphism rs915770 - RRP36 Q96EU6 VAR_027786 p.Ala78Gly Polymorphism rs3749903 - RRP7A Q9Y3A4 VAR_052227 p.Leu75Met Polymorphism rs8139383 - RRP7A Q9Y3A4 VAR_052228 p.Val85Ile Polymorphism rs1812240 - RRP7A Q9Y3A4 VAR_052229 p.Val88Ile Polymorphism rs11553441 - RRP8 O43159 VAR_051034 p.Ala145Pro Polymorphism rs11040934 - RRP8 O43159 VAR_051035 p.Pro329Ser Polymorphism rs17834692 - RRP9 O43818 VAR_035887 p.Arg8Gly Unclassified - A breast cancer sample RRP9 O43818 VAR_035888 p.Ala342Glu Unclassified - A breast cancer sample RRS1 Q15050 VAR_020484 p.Arg191Leu Polymorphism rs3739336 - RRS1 Q15050 VAR_051887 p.Gln116His Polymorphism rs34077648 - RRS1 Q15050 VAR_051888 p.Lys126Arg Polymorphism rs3739335 - RS1 O15537 VAR_008180 p.Glu72Asp Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008181 p.Glu72Lys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008182 p.Gly74Val Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008183 p.Trp96Arg Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008184 p.Arg102Trp Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008185 p.Gly109Arg Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008209 p.Leu12His Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008210 p.Leu13Pro Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008211 p.Cys59Ser Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008212 p.Tyr65Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008213 p.Gly70Ala Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008214 p.Gly70Ser Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008215 p.Tyr89Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008216 p.Ala98Glu Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008217 p.Arg102Gln Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008218 p.Leu103Arg Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008219 p.Phe108Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008220 p.Gly109Glu Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008221 p.Gly109Trp Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008222 p.Cys110Tyr Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008223 p.Trp112Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008224 p.Leu113Phe Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008225 p.Leu127Pro Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008226 p.Gly135Val Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008227 p.Ile136Thr Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008228 p.Thr138Ala Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008229 p.Gly140Glu Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008230 p.Gly140Arg Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008231 p.Arg141Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008232 p.Arg141Gly Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008233 p.Arg141His Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008234 p.Cys142Trp Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008235 p.Asp143Val Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008236 p.Glu146Asp Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008237 p.Glu146Lys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008238 p.Tyr155Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008239 p.Asp158Asn Polymorphism rs1800002 - RS1 O15537 VAR_008240 p.Trp163Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008241 p.Gly178Asp Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008242 p.Arg182Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008243 p.Pro192Arg Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008244 p.Pro192Ser Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008245 p.Pro193Leu Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008246 p.Pro193Ser Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008247 p.Arg197Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008248 p.Arg197His Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008249 p.Ile199Thr Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008251 p.Arg200Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008252 p.Arg200His Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008253 p.Pro203Leu Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008254 p.His207Gln Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008255 p.Arg209His Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008256 p.Arg213Trp Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008257 p.Glu215Lys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008258 p.Glu215Gln Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008259 p.Leu216Pro Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008260 p.Cys219Gly Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008261 p.Cys219Arg Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_008262 p.Cys223Arg Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_012078 p.Lys222Asn Polymorphism rs1800004 - RS1 O15537 VAR_065326 p.Ser73Pro Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065327 p.Asp145His Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065328 p.Arg156Gly Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065329 p.Pro192Leu Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065330 p.Arg209Cys Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RS1 O15537 VAR_065331 p.Arg213Gln Disease - Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] RSAD1 Q9HA92 VAR_031777 p.Ala119Thr Polymorphism rs2290862 - RSAD1 Q9HA92 VAR_031778 p.Leu126Ser Polymorphism rs2290861 - RSAD1 Q9HA92 VAR_061126 p.Glu354Gln Polymorphism rs9891176 - RSAD2 Q8WXG1 VAR_036980 p.Leu42Arg Polymorphism rs17851586 - RSAD2 Q8WXG1 VAR_053974 p.Val52Ile Polymorphism rs2305257 - RSC1A1 Q92681 VAR_039679 p.Phe62Leu Polymorphism rs3766163 - RSC1A1 Q92681 VAR_039680 p.Cys191Trp Polymorphism rs34091519 - RSC1A1 Q92681 VAR_039681 p.Asn271Ser Polymorphism rs3738648 - RSF1 Q96T23 VAR_020885 p.Ser475Pro Polymorphism rs7950873 - RSF1 Q96T23 VAR_061741 p.Glu304Asp Polymorphism rs58758035 - RSG1 Q9BU20 VAR_031772 p.Glu86Gly Polymorphism rs17849687 - RSPH10B2 B2RC85 VAR_037357 p.Glu836Lys Polymorphism rs17855578 - RSPH3 Q86UC2 VAR_037720 p.Asn201Ser Polymorphism rs16889320 - RSPH3 Q86UC2 VAR_037721 p.Arg213Gln Polymorphism rs34582178 - RSPH3 Q86UC2 VAR_037722 p.Arg398Gln Polymorphism rs10455840 - RSPH3 Q86UC2 VAR_037723 p.Met439Thr Polymorphism rs768994 - RSPH3 Q86UC2 VAR_037724 p.Glu484Lys Polymorphism rs12204826 - RSPH3 Q86UC2 VAR_037725 p.Gly518Asp Polymorphism rs3756987 - RSPH4A Q5TD94 VAR_037715 p.Thr149Ser Polymorphism rs13213314 - RSPH4A Q5TD94 VAR_037716 p.Arg556His Polymorphism rs6927567 - RSPH4A Q5TD94 VAR_037717 p.Leu589Pro Polymorphism rs784133 - RSPH4A Q5TD94 VAR_037718 p.Asn627His Polymorphism rs9488991 - RSPH4A Q5TD94 VAR_037719 p.Ala700Val Polymorphism rs9488992 - RSPH4A Q5TD94 VAR_055235 p.Pro87Ser Disease - Primary ciliary dyskinesia type 11 (CILD11) [MIM:612649] RSPH6A Q9H0K4 VAR_037560 p.Ala50Val Polymorphism rs12459916 - RSPH9 Q9H1X1 VAR_050815 p.Val261Ile Polymorphism rs16896629 - RSPO2 Q6UXX9 VAR_026247 p.Leu186Pro Polymorphism rs601558 - RSPO4 Q2I0M5 VAR_030399 p.Gln65Arg Disease - Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800] RSPO4 Q2I0M5 VAR_030400 p.Cys95Phe Disease - Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800] RSPO4 Q2I0M5 VAR_030401 p.Cys107Arg Disease - Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800] RSPO4 Q2I0M5 VAR_030402 p.Cys118Tyr Disease - Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800] RSPO4 Q2I0M5 VAR_052665 p.Arg106Gln Polymorphism rs6140807 - RSRC2 Q7L4I2 VAR_038133 p.His88Arg Polymorphism rs17886684 - RTBDN Q9BSG5 VAR_049053 p.Gly198Ala Polymorphism rs13628 - RTDR1 Q9UHP6 VAR_015443 p.Thr42Met Polymorphism rs35211242 - RTEL1 Q9NZ71 VAR_054970 p.Asn124Ser Polymorphism rs3848668 - RTEL1 Q9NZ71 VAR_054971 p.Gln1042His Polymorphism rs3208008 - RTFDC1 Q9BY42 VAR_028134 p.Thr159Ala Polymorphism rs6024909 - RTFDC1 Q9BY42 VAR_028135 p.Met171Val Polymorphism rs1059768 - RTKN2 Q8IZC4 VAR_050516 p.Lys101Thr Polymorphism rs3765004 - RTKN2 Q8IZC4 VAR_050517 p.His462Arg Polymorphism rs3125734 - RTL1 A6NKG5 VAR_043937 p.Glu848Gln Polymorphism rs11623267 - RTN1 Q16799 VAR_053630 p.Gly247Glu Polymorphism rs35645652 - RTN1 Q16799 VAR_053631 p.Ile357Val Polymorphism rs35707243 - RTN2 O75298 VAR_053632 p.Arg425Gln Polymorphism rs35461805 - RTN3 O95197 VAR_031164 p.Ala6Glu Polymorphism rs11551944 - RTN3 O95197 VAR_057713 p.Asp501His Polymorphism rs7936660 - RTN4 Q9NQC3 VAR_035904 p.Leu429Val Unclassified - A colorectal cancer sample RTN4 Q9NQC3 VAR_053633 p.Asp357Val Polymorphism rs11677099 - RTN4 Q9NQC3 VAR_053634 p.Glu899Gln Polymorphism rs6757519 - RTN4 Q9NQC3 VAR_053635 p.Ser920Cys Polymorphism rs6757705 - RTP1 P59025 VAR_036122 p.Arg124Ser Unclassified - A breast cancer sample RTP1 P59025 VAR_053729 p.Ala212Gly Polymorphism rs35053281 - RTP1 P59025 VAR_053730 p.Gln229Glu Polymorphism rs6764714 - RTP2 Q5QGT7 VAR_021488 p.Gln82Arg Polymorphism rs11707167 - RTP4 Q96DX8 VAR_057732 p.Thr79Ile Polymorphism rs1047584 - RTP4 Q96DX8 VAR_057733 p.Ser168Asn Polymorphism rs35224605 - RTTN Q86VV8 VAR_036848 p.Ser126Ala Polymorphism rs3911730 - RTTN Q86VV8 VAR_036849 p.Lys245Arg Polymorphism rs17082206 - RTTN Q86VV8 VAR_036850 p.His1742Arg Polymorphism rs285227 - RTTN Q86VV8 VAR_036851 p.Phe1761Ser Polymorphism rs4891392 - RUFY1 Q96T51 VAR_035985 p.Cys267Phe Unclassified - A breast cancer sample RUFY1 Q96T51 VAR_051327 p.His298Gln Polymorphism rs6879322 - RUFY2 Q8WXA3 VAR_060318 p.Cys622Ser Polymorphism rs11816774 - RUNDC1 Q96C34 VAR_031760 p.Val4Ile Polymorphism rs17853899 - RUNDC1 Q96C34 VAR_031761 p.Trp160Arg Polymorphism rs1708875 - RUNDC1 Q96C34 VAR_031762 p.Leu397Met Polymorphism rs17857183 - RUNDC1 Q96C34 VAR_051328 p.Glu566Lys Polymorphism rs3744241 - RUNDC3B Q96NL0 VAR_043473 p.Leu47Met Polymorphism rs17852065 - RUNDC3B Q96NL0 VAR_043474 p.Glu206Gly Polymorphism rs17852063 - RUNDC3B Q96NL0 VAR_043475 p.Leu440Pro Polymorphism rs17856673 - RUNX1 Q01196 VAR_012128 p.Arg139Gln Disease - Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399] RUNX1 Q01196 VAR_012129 p.Arg174Gln Disease - Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399] RUNX1 Q01196 VAR_013177 p.Ser431Arg Polymorphism rs1055308 - RUNX1 Q01196 VAR_013178 p.Ser433Arg Polymorphism rs1055309 - RUNX1T1 Q06455 VAR_036321 p.Arg386Trp Unclassified - A colorectal cancer sample RUNX1T1 Q06455 VAR_036322 p.Arg395Trp Unclassified - A colorectal cancer sample RUNX1T1 Q06455 VAR_036323 p.Ala471Val Unclassified - A colorectal cancer sample RUNX2 Q13950 VAR_012132 p.Leu113Arg Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012133 p.Ser118Arg Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012134 p.Phe121Cys Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012135 p.Cys123Arg Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012137 p.Arg169Gln Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012138 p.Met175Arg Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012139 p.Arg190Gln Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012140 p.Arg190Trp Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012141 p.Ser191Asn Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012142 p.Arg193Cys Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012143 p.Phe197Ser Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012144 p.Leu199Phe Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012145 p.Thr200Ala Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012146 p.Thr205Arg Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012147 p.Gln209Arg Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012148 p.Arg225Gln Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012149 p.Arg225Trp Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_012150 p.Gly511Ser Unclassified - - RUNX2 Q13950 VAR_064081 p.Gln53Leu Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064082 p.Ser118Asn Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064083 p.Arg131Cys Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064084 p.Arg131Gly Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064085 p.Arg131Ser Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064086 p.Leu136Pro Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064087 p.Val156Asp Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064088 p.Val156Gly Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064089 p.Arg169Pro Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064090 p.Met175Lys Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064091 p.Met175Val Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064092 p.Phe187Ser Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064093 p.Arg193Gln Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064094 p.Thr200Ile Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064095 p.Ile201Lys Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064096 p.Gln209His Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064097 p.Ala211Pro Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064098 p.Lys218Glu Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064099 p.Lys218Asn Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064100 p.Lys218Gln Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064101 p.Thr220Ile Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064102 p.Arg225Leu Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064103 p.Arg228Gly Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064104 p.Lys233Arg Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064105 p.Asp287Asn Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064106 p.Ala362Val Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064107 p.Thr420Ile Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUNX2 Q13950 VAR_064108 p.Thr420Asn Disease - Cleidocranial dysplasia (CLCD) [MIM:119600] RUSC1-AS1 Q66K80 VAR_050704 p.Arg231Ser Polymorphism rs16836822 - RUSC1 Q9BVN2 VAR_036803 p.Ser362Phe Polymorphism rs12061020 - RUSC1 Q9BVN2 VAR_051329 p.Val493Ala Polymorphism rs35826120 - RUSC2 Q8N2Y8 VAR_034653 p.Thr73Ala Polymorphism rs1535422 - RUSC2 Q8N2Y8 VAR_034654 p.Pro654Leu Polymorphism rs3750427 - RWDD3 Q9Y3V2 VAR_024346 p.Asn86Lys Polymorphism rs2296308 - RWDD3 Q9Y3V2 VAR_034420 p.Val47Ala Polymorphism rs259358 - RWDD4 Q6NW29 VAR_024928 p.Ile124Leu Polymorphism rs10015804 - RXFP2 Q8WXD0 VAR_015386 p.Thr222Pro Disease rs28939382 Cryptorchidism (CRYPTO) [MIM:219050] RXFP2 Q8WXD0 VAR_015387 p.Ile604Val Polymorphism rs17076657 - RXFP4 Q8TDU9 VAR_021516 p.Leu329Ser Polymorphism rs2152051 - RXRA P19793 VAR_014620 p.Pro261Leu Polymorphism rs2234960 - RXRA P19793 VAR_014621 p.Ser336Ile Polymorphism rs1805345 - RXRA P19793 VAR_050582 p.Ala327Ser Polymorphism rs1805345 - RXRA P19793 VAR_050583 p.Ala398Val Polymorphism rs11542209 - RYK P34925 VAR_041800 p.Asn96Ser Polymorphism - - RYK P34925 VAR_041801 p.Arg224Cys Polymorphism - - RYK P34925 VAR_041802 p.Val240Ile Unclassified - An ovarian mucinous carcinoma sample RYR1 P21817 VAR_005589 p.Cys35Arg Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005590 p.Arg163Cys Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_005590 p.Arg163Cys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005591 p.Gly248Arg Unclassified rs1801086 - RYR1 P21817 VAR_005592 p.Gly341Arg Disease rs28933997 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005593 p.Ile403Met Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_005593 p.Ile403Met Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005594 p.Arg471Cys Polymorphism - - RYR1 P21817 VAR_005595 p.Tyr522Ser Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_005595 p.Tyr522Ser Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005596 p.Arg552Trp Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005597 p.Arg614Cys Disease rs28933996 Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_005597 p.Arg614Cys Disease rs28933996 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005598 p.Arg614Leu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005599 p.Pro1787Leu Polymorphism rs34934920 - RYR1 P21817 VAR_005600 p.Gly2060Cys Polymorphism rs35364374 - RYR1 P21817 VAR_005601 p.Arg2163Cys Disease rs28933998 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005602 p.Arg2163His Disease rs28933999 Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_005602 p.Arg2163His Disease rs28933999 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005603 p.Val2168Met Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_005603 p.Val2168Met Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005604 p.Thr2206Met Disease rs28934000 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005605 p.Gly2434Arg Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_005606 p.Arg2435His Disease rs28933396 Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_005606 p.Arg2435His Disease rs28933396 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008971 p.Arg533His Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008972 p.Arg2163Pro Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008973 p.Thr2206Arg Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008974 p.Arg2435Leu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008975 p.Arg2454Cys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008976 p.Arg2454His Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_008976 p.Arg2454His Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008977 p.Arg2458Cys Disease rs28933397 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_008978 p.Arg2458His Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_032910 p.Arg109Trp Disease - Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320] RYR1 P21817 VAR_032911 p.Met485Val Polymorphism - - RYR1 P21817 VAR_032912 p.Arg1109Lys Polymorphism rs35719391 - RYR1 P21817 VAR_032913 p.Ser1342Gly Polymorphism rs34694816 - RYR1 P21817 VAR_032914 p.Ser1489Asn Polymorphism rs34404839 - RYR1 P21817 VAR_032915 p.Met2423Lys Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_032915 p.Met2423Lys Disease - Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320] RYR1 P21817 VAR_032916 p.Gln3756Glu Polymorphism rs4802584 - RYR1 P21817 VAR_045694 p.Leu13Val Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045695 p.Arg44Cys Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045695 p.Arg44Cys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045696 p.Glu160Gly Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045697 p.Arg163Leu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045698 p.Gly165Arg Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045699 p.Asp166Asn Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045700 p.Arg177Cys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045701 p.Tyr178Cys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045702 p.Gly215Glu Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045703 p.Asp227Val Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045704 p.Arg328Trp Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045705 p.Arg401Cys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045706 p.Arg401His Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045707 p.Arg401Ser Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045708 p.Arg533Cys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045709 p.Gly1704Ser Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045710 p.Gly1832Ala Polymorphism - - RYR1 P21817 VAR_045711 p.Met2101Lys Polymorphism - - RYR1 P21817 VAR_045712 p.Val2117Leu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045713 p.Asp2129Glu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045714 p.Val2214Ile Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045715 p.Val2280Ile Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045716 p.Asn2342Ser Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045717 p.Glu2344Asp Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045718 p.Val2346Met Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045720 p.Glu2348Gly Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045721 p.Ala2350Thr Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045722 p.Arg2355Cys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045723 p.Ala2367Thr Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045724 p.Ala2421Pro Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045725 p.Ala2428Thr Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045726 p.Asp2431Asn Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045727 p.Ala2437Val Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045728 p.Arg2452Trp Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045729 p.Arg2676Trp Disease rs28934001 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045730 p.Thr2787Ser Disease rs35180584 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045731 p.Ala3118Val Polymorphism rs2915960 - RYR1 P21817 VAR_045732 p.Pro3527Ser Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045733 p.Arg3539His Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045734 p.Arg3772Gln Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045735 p.Ile3916Met Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045736 p.Arg4136Ser Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045738 p.Val4234Leu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045739 p.Arg4558Gln Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045740 p.Thr4637Ala Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045741 p.Thr4637Ile Unclassified - - RYR1 P21817 VAR_045742 p.Gly4638Asp Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045744 p.Leu4650Pro Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045745 p.His4651Pro Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045746 p.Pro4668Ser Polymorphism - - RYR1 P21817 VAR_045747 p.Phe4684Ser Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045748 p.Lys4724Gln Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045749 p.Arg4737Gln Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045750 p.Arg4737Trp Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045751 p.Leu4793Pro Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045752 p.Tyr4796Cys Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045753 p.Leu4814Phe Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045754 p.Leu4824Pro Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045755 p.Arg4825Cys Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045756 p.Thr4826Ile Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045757 p.Leu4838Val Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045758 p.Val4842Met Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045759 p.Ala4846Val Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045760 p.Val4849Ile Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045760 p.Val4849Ile Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045762 p.Arg4861Cys Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045763 p.Arg4861His Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045765 p.Tyr4864Cys Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045766 p.Lys4876Arg Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045767 p.Gly4891Arg Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045768 p.Arg4893Gln Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045769 p.Arg4893Trp Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045770 p.Gly4897Val Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045771 p.Ile4898Thr Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045772 p.Gly4899Glu Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045773 p.Gly4899Arg Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045774 p.Ala4906Val Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045775 p.Arg4914Gly Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045776 p.Arg4914Thr Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045778 p.Ile4938Met Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045779 p.Asp4939Glu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045780 p.Ala4940Thr Disease - Central core disease of muscle (CCD) [MIM:117000] RYR1 P21817 VAR_045781 p.Gly4942Val Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_045782 p.Pro4973Leu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_051890 p.Ala291Thr Polymorphism rs2229140 - RYR1 P21817 VAR_051891 p.Val2509Ile Polymorphism rs2071088 - RYR1 P21817 VAR_051892 p.Glu2779Lys Polymorphism rs2915952 - RYR1 P21817 VAR_058560 p.Leu13Arg Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058561 p.Met226Lys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058562 p.Arg367Leu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058563 p.Arg530His Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058564 p.Asp544Tyr Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058565 p.Arg1043Cys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058566 p.Ala1352Gly Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058567 p.Ile2321Val Polymorphism rs34390345 - RYR1 P21817 VAR_058568 p.Arg2336His Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058569 p.Glu2404Lys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058570 p.Leu2550Val Polymorphism - - RYR1 P21817 VAR_058571 p.Asp2730Gly Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058572 p.Glu2880Lys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058573 p.Ser3217Pro Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058574 p.Glu3290Lys Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058575 p.Glu3583Gln Polymorphism rs55876273 - RYR1 P21817 VAR_058576 p.Arg3772Trp Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058577 p.Gly3806Arg Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058578 p.Pro4501Leu Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_058579 p.Ile4938Thr Disease - Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] RYR1 P21817 VAR_063846 p.Met402Thr Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] RYR1 P21817 VAR_063847 p.His2035Leu Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] RYR1 P21817 VAR_063848 p.Asn3326Lys Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] RYR1 P21817 VAR_063849 p.Cys3402Gly Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] RYR2 Q92736 VAR_011395 p.Leu433Pro Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011395 p.Leu433Pro Disease - Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996] RYR2 Q92736 VAR_011396 p.Ser2246Leu Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011397 p.Pro2328Ser Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011398 p.Asn2386Ile Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011398 p.Asn2386Ile Disease - Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996] RYR2 Q92736 VAR_011399 p.Arg2474Ser Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011400 p.Asn4104Lys Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011401 p.Gln4201Arg Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011402 p.Arg4497Cys Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011403 p.Val4653Phe Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_011590 p.Gln2958Arg Polymorphism rs34967813 - RYR2 Q92736 VAR_022078 p.Gly1886Ser Polymorphism rs3766871 - RYR2 Q92736 VAR_023694 p.Val2306Ile Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_023695 p.Pro4902Leu Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_023696 p.Arg4959Gln Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044086 p.Pro164Ser Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044087 p.Arg176Gln Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044087 p.Arg176Gln Disease - Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996] RYR2 Q92736 VAR_044088 p.Arg414Leu Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044089 p.Ile419Phe Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044090 p.Arg420Trp Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044091 p.Val507Ile Polymorphism rs16835270 - RYR2 Q92736 VAR_044092 p.Glu2311Asp Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044093 p.Ala2387Pro Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044094 p.Tyr2392Cys Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044095 p.Ala2403Thr Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044096 p.Thr2504Met Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044096 p.Thr2504Met Disease - Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996] RYR2 Q92736 VAR_044097 p.Leu3778Phe Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044098 p.Gly3946Ser Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044099 p.Asn4097Ser Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044100 p.Glu4146Lys Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044101 p.Thr4158Pro Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044102 p.Phe4499Cys Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044103 p.Met4504Ile Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044104 p.Ala4510Thr Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044105 p.Ala4607Pro Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044106 p.Gly4671Arg Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044107 p.Val4771Ile Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044108 p.Ile4848Val Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044109 p.Ala4860Gly Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044110 p.Ile4867Met Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044111 p.Val4880Ala Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044112 p.Asn4895Asp Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR2 Q92736 VAR_044113 p.Glu4950Lys Disease - Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] RYR3 Q15413 VAR_011404 p.Tyr693Cys Polymorphism - - RYR3 Q15413 VAR_011405 p.Ile731Val Polymorphism - - RYR3 Q15413 VAR_011406 p.Glu1380Gly Polymorphism - - RYR3 Q15413 VAR_024077 p.Arg261Ser Polymorphism - - RYR3 Q15413 VAR_024078 p.Val494Ile Polymorphism - - RYR3 Q15413 VAR_057166 p.Ile358Thr Polymorphism rs2304380 - S100A3 P33764 VAR_061047 p.Arg3Lys Polymorphism rs36022742 - S100A5 P33763 VAR_001305 p.Asp54Gly Polymorphism - - S100A6 P06703 VAR_011982 p.His27Arg Polymorphism rs11974 - S100A6 P06703 VAR_011983 p.Asn69Ser Polymorphism rs1802581 - S100A6 P06703 VAR_011984 p.Ile83Thr Polymorphism rs1802582 - S100A6 P06703 VAR_029281 p.Gly90Asp Polymorphism rs2228293 - S100A7A Q86SG5 VAR_048468 p.Ala84Thr Polymorphism rs3006414 - S100A7A Q86SG5 VAR_061048 p.Arg23His Polymorphism rs55985140 - S100A7 P31151 VAR_039118 p.Glu28Asp Polymorphism rs3014837 - S100A9 P06702 VAR_013008 p.His20Arg Polymorphism - - S100Z Q8WXG8 VAR_060484 p.Glu23Ala Polymorphism rs1320308 - S1PR1 P21453 VAR_046158 p.Ser15Leu Polymorphism rs4987250 - S1PR1 P21453 VAR_046159 p.Ala115Thr Polymorphism rs11542632 - S1PR1 P21453 VAR_046160 p.Pro332Arg Polymorphism rs7549921 - S1PR3 Q99500 VAR_033465 p.Arg243Gln Polymorphism rs34075341 - S1PR4 O95977 VAR_022066 p.Arg365Leu Polymorphism rs3746072 - S1PR5 Q9H228 VAR_033466 p.Leu318Gln Polymorphism rs35483143 - SAA1 P0DJI8 VAR_006925 p.Gly15Ser Polymorphism rs712021 - SAA1 P0DJI8 VAR_006926 p.Val70Ala Polymorphism - - SAA1 P0DJI8 VAR_006927 p.Ala75Val Polymorphism - - SAA1 P0DJI8 VAR_006928 p.Asp78Asn Polymorphism - - SAA1 P0DJI8 VAR_006931 p.Gly90Asp Polymorphism - - SAA1 P0DJI8 VAR_057167 p.Phe86Leu Polymorphism rs1059559 - SAA2 P0DJI9 VAR_006930 p.Arg89His Polymorphism rs2229338 - SAA4 P35542 VAR_051893 p.Cys89Tyr Polymorphism rs2460827 - SAAL1 Q96ER3 VAR_053846 p.Ile315Val Polymorphism rs35525096 - SAAL1 Q96ER3 VAR_053847 p.Ser426Gly Polymorphism rs28930681 - SAC3D1 A6NKF1 VAR_036755 p.Thr8Pro Polymorphism rs10160811 - SAC3D1 A6NKF1 VAR_036756 p.Leu186Pro Polymorphism rs3741390 - SAC3D1 A6NKF1 VAR_062213 p.Leu155Arg Polymorphism rs12271134 - SACM1L Q9NTJ5 VAR_038484 p.Tyr434Phe Polymorphism rs1468542 - SACS Q9NZJ4 VAR_010296 p.Val3369Ala Polymorphism rs17078605 - SACS Q9NZJ4 VAR_035986 p.Met1795Ile Unclassified - A colorectal cancer sample SACS Q9NZJ4 VAR_059716 p.Asn232Lys Polymorphism rs2031640 - SACS Q9NZJ4 VAR_059717 p.Ala694Thr Polymorphism rs17325713 - SACS Q9NZJ4 VAR_059718 p.Lys2017Asn Polymorphism rs35865691 - SACS Q9NZJ4 VAR_059719 p.Lys2958Arg Polymorphism rs11839380 - SACS Q9NZJ4 VAR_059720 p.Pro3678Ala Polymorphism rs17078601 - SACS Q9NZJ4 VAR_059721 p.Asn4217Asp Polymorphism rs35799469 - SACS Q9NZJ4 VAR_064801 p.Asp168Tyr Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064802 p.Thr201Lys Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064803 p.Leu308Phe Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064804 p.Leu556Pro Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064805 p.Leu802Pro Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064806 p.Cys991Arg Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064807 p.Phe1054Ser Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064808 p.Met1311Lys Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064809 p.Arg1575Pro Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064810 p.His1587Arg Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064811 p.Trp1946Arg Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064813 p.Arg2703Cys Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064814 p.Pro2798Gln Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064816 p.Trp3248Arg Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064817 p.Leu3481Pro Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064818 p.Arg3636Gln Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064819 p.Leu3645Pro Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064820 p.Pro3652Thr Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064821 p.Phe3653Ser Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064822 p.Ala4074Pro Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064823 p.Arg4331Gln Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064824 p.Glu4343Lys Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064825 p.Lys4508Thr Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SACS Q9NZJ4 VAR_064826 p.Asn4549Asp Disease - Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] SAGE1 Q9NXZ1 VAR_032243 p.Asn741Lys Polymorphism rs35470903 - SAGE1 Q9NXZ1 VAR_032244 p.Leu805Ser Polymorphism rs4829799 - SAG P10523 VAR_008263 p.Ile76Val Polymorphism rs7565275 - SAG P10523 VAR_008264 p.Arg84Cys Polymorphism - - SAG P10523 VAR_008265 p.Thr125Met Polymorphism - - SAG P10523 VAR_008266 p.Pro364Leu Polymorphism - - SAG P10523 VAR_008267 p.Val378Ile Polymorphism - - SAG P10523 VAR_008268 p.Arg384Cys Polymorphism - - SAG P10523 VAR_033524 p.Val403Ile Polymorphism rs1046974 - SAG P10523 VAR_048333 p.Val403Ala Polymorphism rs1046976 - SALL1 Q9NSC2 VAR_013157 p.Ser159Gly Polymorphism rs13336129 - SALL1 Q9NSC2 VAR_013159 p.Gly1265Glu Polymorphism - - SALL2 Q9Y467 VAR_014129 p.Ser75Cys Polymorphism rs2242527 - SALL2 Q9Y467 VAR_014130 p.Pro122Ser Polymorphism rs1263811 - SALL2 Q9Y467 VAR_014131 p.Gly746Arg Polymorphism rs1263810 - SALL3 Q9BXA9 VAR_014132 p.Leu593Val Polymorphism rs2447437 - SALL3 Q9BXA9 VAR_035552 p.Arg143His Unclassified - A colorectal cancer sample SALL3 Q9BXA9 VAR_059887 p.Thr533Ala Polymorphism rs7240860 - SALL4 Q9UJQ4 VAR_016042 p.Leu507Arg Polymorphism rs6126344 - SALL4 Q9UJQ4 VAR_016043 p.Ile798Leu Polymorphism rs6091375 - SALL4 Q9UJQ4 VAR_033054 p.His888Arg Disease - Duane-radial ray syndrome (DRRS) [MIM:607323] SAMD15 Q9P1V8 VAR_030890 p.Leu18Pro Polymorphism rs11844594 - SAMD15 Q9P1V8 VAR_030891 p.Lys370Glu Polymorphism rs4903576 - SAMD15 Q9P1V8 VAR_030892 p.Lys454Glu Polymorphism rs2193595 - SAMD15 Q9P1V8 VAR_061613 p.Met168Ile Polymorphism rs45527334 - SAMD1 Q6SPF0 VAR_061701 p.Glu340Asp Polymorphism rs8062 - SAMD3 Q8N6K7 VAR_030910 p.Glu94Lys Polymorphism rs17852709 - SAMD7 Q7Z3H4 VAR_029586 p.Glu220Asp Polymorphism rs10513680 - SAMD9L Q8IVG5 VAR_030911 p.Val266Ile Polymorphism rs10488532 - SAMD9L Q8IVG5 VAR_030912 p.Phe289Ser Polymorphism rs2073793 - SAMD9L Q8IVG5 VAR_030913 p.Gly1137Ala Polymorphism rs17165111 - SAMD9L Q8IVG5 VAR_030914 p.Asn1516Thr Polymorphism rs10282508 - SAMD9 Q5K651 VAR_031526 p.Ile143Thr Polymorphism rs6969691 - SAMD9 Q5K651 VAR_031527 p.Asn449Ser Polymorphism rs10239435 - SAMD9 Q5K651 VAR_031528 p.Val549Leu Polymorphism rs10279499 - SAMD9 Q5K651 VAR_031529 p.Lys1495Glu Disease - Tumoral calcinosis, normophosphatemic, familial (NFTC) [MIM:610455] SAMHD1 Q9Y3Z3 VAR_058481 p.His123Pro Disease - Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058482 p.Arg143Cys Disease - Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058483 p.Arg143His Disease - Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058484 p.Arg145Gln Disease - Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058485 p.Ile201Asn Disease - Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058485 p.Ile201Asn Disease - Chilblain lupus type 2 (CHBL2) [MIM:614415] SAMHD1 Q9Y3Z3 VAR_058486 p.Gly209Ser Disease - Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058487 p.Met254Val Disease - Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058488 p.Leu369Ser Disease - Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] SAMHD1 Q9Y3Z3 VAR_058489 p.Met385Val Disease - Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] SAMM50 Q9Y512 VAR_013768 p.Ile345Val Polymorphism rs8418 - SAMM50 Q9Y512 VAR_057338 p.Asp110Gly Polymorphism rs3761472 - SAMSN1 Q9NSI8 VAR_051331 p.Gly63Ala Polymorphism rs34607574 - SAPCD1 Q5SSQ6 VAR_056889 p.Pro30Ser Polymorphism rs17201151 - SAPCD1 Q5SSQ6 VAR_056890 p.Pro99Leu Polymorphism rs6905572 - SAR1B Q9Y6B6 VAR_016806 p.Gly37Arg Disease - Chylomicron retention disease (CMRD) [MIM:246700] SAR1B Q9Y6B6 VAR_016807 p.Asp137Asn Disease rs28942109 Chylomicron retention disease (CMRD) [MIM:246700] SAR1B Q9Y6B6 VAR_016808 p.Ser179Arg Disease rs28942110 Chylomicron retention disease (CMRD) [MIM:246700] SAR1B Q9Y6B6 VAR_059051 p.Gly11Asp Disease - Chylomicron retention disease (CMRD) [MIM:246700] SAR1B Q9Y6B6 VAR_059052 p.Asp75Gly Disease - Chylomicron retention disease (CMRD) [MIM:246700] SARDH Q9UL12 VAR_019687 p.Arg614His Polymorphism rs2073817 - SARDH Q9UL12 VAR_019688 p.Met648Val Polymorphism rs886016 - SARDH Q9UL12 VAR_039077 p.Gly22Cys Polymorphism rs35559818 - SARDH Q9UL12 VAR_039078 p.Glu372Asp Polymorphism rs35218200 - SARG Q9BW04 VAR_038775 p.Pro87Ser Polymorphism rs706846 - SARG Q9BW04 VAR_038776 p.Thr107Ala Polymorphism rs35299018 - SARG Q9BW04 VAR_038777 p.Asn157Thr Polymorphism rs34660159 - SARG Q9BW04 VAR_038778 p.Arg258Gly Polymorphism rs12062114 - SARG Q9BW04 VAR_038779 p.Asn434Ser Polymorphism rs35267170 - SARG Q9BW04 VAR_038780 p.Ser444Pro Polymorphism rs2842726 - SARG Q9BW04 VAR_038781 p.Phe514Ser Polymorphism rs11799966 - SARM1 Q6SZW1 VAR_061702 p.Pro23Arg Polymorphism rs7212814 - SARS2 Q9NP81 VAR_052645 p.Thr35Ala Polymorphism rs34264048 - SARS2 Q9NP81 VAR_052646 p.Ser83Leu Polymorphism rs34050897 - SART1 O43290 VAR_025319 p.Gly485Ala Polymorphism rs660118 - SART1 O43290 VAR_034504 p.Ser463Ala Polymorphism rs35036096 - SART1 O43290 VAR_051367 p.Arg245Cys Polymorphism rs688862 - SART3 Q15020 VAR_038683 p.Val591Met Disease - Disseminated superficial actinic porokeratosis type 1 (DSAP1) [MIM:175900] SART3 Q15020 VAR_038684 p.Glu621Asp Polymorphism rs2287546 - SART3 Q15020 VAR_038802 p.Asp23Glu Polymorphism rs2072579 - SASH1 O94885 VAR_031714 p.Pro298Gln Polymorphism rs35078400 - SASH1 O94885 VAR_031715 p.Gln884Arg Polymorphism rs208696 - SASS6 Q6UVJ0 VAR_021590 p.Ala259Val Polymorphism rs13375867 - SAT2 Q96F10 VAR_020465 p.Arg126Cys Polymorphism rs13894 - SATB2 Q9UPW6 VAR_059320 p.Ser263Pro Polymorphism rs12619995 - SATL1 Q86VE3 VAR_031438 p.Trp92Arg Polymorphism rs10126146 - SAV1 Q9H4B6 VAR_015880 p.Ala185Asp Unclassified - A colon cancer cell line SBDS Q9Y3A5 VAR_015390 p.Asn8Lys Disease rs28942099 Shwachman-Diamond syndrome (SDS) [MIM:260400] SBDS Q9Y3A5 VAR_015391 p.Glu44Gly Disease - Shwachman-Diamond syndrome (SDS) [MIM:260400] SBDS Q9Y3A5 VAR_015392 p.Lys67Glu Disease - Shwachman-Diamond syndrome (SDS) [MIM:260400] SBDS Q9Y3A5 VAR_015393 p.Ile87Ser Disease - Shwachman-Diamond syndrome (SDS) [MIM:260400] SBDS Q9Y3A5 VAR_015394 p.Arg126Thr Disease - Shwachman-Diamond syndrome (SDS) [MIM:260400] SBDS Q9Y3A5 VAR_015395 p.Arg169Cys Disease - Shwachman-Diamond syndrome (SDS) [MIM:260400] SBDS Q9Y3A5 VAR_015396 p.Ile212Thr Disease - Shwachman-Diamond syndrome (SDS) [MIM:260400] SBF2 Q86WG5 VAR_051766 p.Pro303Leu Polymorphism rs16907355 - SBF2 Q86WG5 VAR_051767 p.Glu679Lys Polymorphism rs7102464 - SBF2 Q86WG5 VAR_051768 p.Gln1216Glu Polymorphism rs12574508 - SBK1 Q52WX2 VAR_041068 p.Lys92Glu Unclassified - An ovarian mucinous carcinoma sample SBK1 Q52WX2 VAR_041069 p.Asn250Thr Polymorphism rs56072383 - SBK1 Q52WX2 VAR_041070 p.Ala261Ser Polymorphism - - SBK1 Q52WX2 VAR_051665 p.Arg12His Polymorphism rs35448675 - SBK2 P0C263 VAR_041077 p.Glu20Lys Polymorphism - - SBK2 P0C263 VAR_041078 p.Ala41Glu Polymorphism - - SBK2 P0C263 VAR_041079 p.Gly102Asp Polymorphism - - SBNO1 A3KN83 VAR_037910 p.Thr634Ser Unclassified - A breast cancer sample SBNO1 A3KN83 VAR_037911 p.Ser728Asn Polymorphism rs1060105 - SBNO1 A3KN83 VAR_037912 p.Glu889Lys Unclassified - A breast cancer sample SBNO1 A3KN83 VAR_037913 p.Ser997Cys Unclassified - A breast cancer sample SBNO1 A3KN83 VAR_057794 p.Ser729Asn Polymorphism rs1060105 - SBSPON Q8IVN8 VAR_042961 p.Trp186Arg Polymorphism rs2291219 - SBSPON Q8IVN8 VAR_061914 p.Phe58Leu Polymorphism rs59331088 - SC5DL O75845 VAR_014423 p.Arg29Gln Disease - Lathosterolosis (LATHST) [MIM:607330] SC5DL O75845 VAR_014424 p.Gly211Asp Disease - Lathosterolosis (LATHST) [MIM:607330] SC5DL O75845 VAR_020829 p.Tyr46Ser Disease - Lathosterolosis (LATHST) [MIM:607330] SCAF11 Q99590 VAR_059722 p.Phe657Tyr Polymorphism rs7315731 - SCAF11 Q99590 VAR_059723 p.Val1261Leu Polymorphism rs11574973 - SCAF1 Q9H7N4 VAR_052235 p.Thr895Ala Polymorphism rs3745470 - SCAF1 Q9H7N4 VAR_052236 p.Met1146Thr Polymorphism rs2304208 - SCAF4 O95104 VAR_052234 p.Ser846Tyr Polymorphism rs12152067 - SCAF8 Q9UPN6 VAR_052220 p.Ser865Asn Polymorphism rs34802160 - SCAI Q8N9R8 VAR_023236 p.Ala37Thr Polymorphism rs589292 - SCAMP3 O14828 VAR_011885 p.Leu38Arg Polymorphism rs760073 - SCAMP3 O14828 VAR_011886 p.Val235Ala Polymorphism rs1318328 - SCAMP3 O14828 VAR_011887 p.Ile239Asn Polymorphism rs909106 - SCAMP3 O14828 VAR_011888 p.Val242Asp Polymorphism rs909107 - SCAMP4 Q969E2 VAR_061783 p.Ala49Thr Polymorphism rs45562539 - SCAND2P Q9GZW5 VAR_021961 p.Ala185Thr Polymorphism rs698620 - SCAND2P Q9GZW5 VAR_034421 p.Pro110Thr Polymorphism rs16974462 - SCAND3 Q6R2W3 VAR_027012 p.Met155Val Polymorphism rs409029 - SCAND3 Q6R2W3 VAR_061703 p.Gln465Lys Polymorphism rs41270593 - SCAPER Q9BY12 VAR_019978 p.Pro1088Thr Polymorphism rs1607017 - SCAPER Q9BY12 VAR_052806 p.Ala1139Thr Polymorphism rs3743176 - SCAPER Q9BY12 VAR_059910 p.Ala1138Thr Polymorphism rs3743176 - SCAP Q12770 VAR_012203 p.Val798Ile Polymorphism rs12487736 - SCARA3 Q6AZY7 VAR_025228 p.Arg130Gln Polymorphism rs34791518 - SCARA3 Q6AZY7 VAR_025229 p.Met325Thr Polymorphism rs33930667 - SCARA3 Q6AZY7 VAR_025230 p.Arg423Gln Polymorphism rs3735754 - SCARA3 Q6AZY7 VAR_025231 p.Val428Ile Polymorphism rs34086286 - SCARA3 Q6AZY7 VAR_025232 p.Phe467Leu Polymorphism rs17057523 - SCARA3 Q6AZY7 VAR_025233 p.Pro551Ser Polymorphism rs35928641 - SCARA5 Q6ZMJ2 VAR_030915 p.Asp316His Polymorphism rs17058207 - SCARA5 Q6ZMJ2 VAR_052062 p.Ala45Thr Polymorphism rs17058374 - SCARB1 Q8WTV0 VAR_017098 p.Gly2Ser Polymorphism rs4238001 - SCARB1 Q8WTV0 VAR_017099 p.Val135Ile Polymorphism rs5891 - SCARB1 Q8WTV0 VAR_017100 p.Gly167Ser Polymorphism - - SCARB1 Q8WTV0 VAR_017101 p.Cys511Arg Polymorphism rs2293440 - SCARB1 Q8WTV0 VAR_019507 p.Ser229Gly Polymorphism rs10396213 - SCARB1 Q8WTV0 VAR_064909 p.Pro297Ser Unclassified - - SCARF1 Q14162 VAR_047249 p.Ala425Val Polymorphism rs2272011 - SCARF1 Q14162 VAR_047250 p.Arg618Lys Polymorphism rs35455643 - SCARF1 Q14162 VAR_047251 p.Glu639Asp Polymorphism rs3744644 - SCARF1 Q14162 VAR_047252 p.Arg662Trp Polymorphism rs8072430 - SCARF1 Q14162 VAR_047253 p.Gly667Ser Polymorphism rs4790250 - SCARF1 Q14162 VAR_047254 p.Gly748Val Polymorphism rs3760460 - SCARF2 Q96GP6 VAR_015148 p.Asp777Glu Polymorphism rs759611 - SCARF2 Q96GP6 VAR_015149 p.Val778Leu Polymorphism rs759612 - SCARF2 Q96GP6 VAR_015150 p.Ala819Gly Polymorphism rs874100 - SCARF2 Q96GP6 VAR_015151 p.Ala837Gly Polymorphism rs874101 - SCARF2 Q96GP6 VAR_035837 p.Arg499Cys Unclassified - A breast cancer sample SCARF2 Q96GP6 VAR_055776 p.Thr425Ser Polymorphism rs2241230 - SCARF2 Q96GP6 VAR_055777 p.His522Leu Polymorphism rs12484828 - SCARF2 Q96GP6 VAR_059274 p.Pro174Ser Polymorphism rs361566 - SCARF2 Q96GP6 VAR_065302 p.Cys258Tyr Disease - Van den Ende-Gupta syndrome (VDEGS) [MIM:600920] SCCPDH Q8NBX0 VAR_034486 p.Gly418Arg Polymorphism rs7779 - SCD O00767 VAR_025994 p.Met224Leu Polymorphism rs2234970 - SCEL O95171 VAR_047920 p.Val336Leu Polymorphism rs34164479 - SCEL O95171 VAR_047921 p.Arg386Lys Polymorphism rs2274016 - SCEL O95171 VAR_047922 p.Lys480Arg Polymorphism rs8002725 - SCFD1 Q8WVM8 VAR_019616 p.Lys63Arg Polymorphism rs229150 - SCFD2 Q8WU76 VAR_024687 p.Leu512Ser Polymorphism rs7675987 - SCG2 P13521 VAR_031555 p.Tyr61His Polymorphism rs16864976 - SCG2 P13521 VAR_031556 p.Asp294Gly Polymorphism rs17852053 - SCG2 P13521 VAR_031557 p.Arg421Gly Polymorphism rs17856669 - SCG2 P13521 VAR_031558 p.Asp535Gly Polymorphism rs17852054 - SCG2 P13521 VAR_031559 p.Pro564Leu Polymorphism rs36043001 - SCG2 P13521 VAR_048755 p.Ala196Val Polymorphism rs1438157 - SCG3 Q8WXD2 VAR_013827 p.Ser125Asn Polymorphism rs2305710 - SCG3 Q8WXD2 VAR_034484 p.Met233Val Polymorphism rs35664837 - SCGB1A1 P11684 VAR_012045 p.Arg56Gly Polymorphism rs1802634 - SCGB1A1 P11684 VAR_012046 p.Thr68Ala Polymorphism rs1802632 - SCGB1C1 Q8TD33 VAR_063102 p.Ile70Arg Polymorphism rs2686894 - SCGB1D2 O95969 VAR_020254 p.Pro53Leu Polymorphism rs2232950 - SCGB1D2 O95969 VAR_020255 p.Val80Ala Polymorphism rs2276427 - SCGB3A2 Q96PL1 VAR_036185 p.Lys33Asn Unclassified - A breast cancer sample SCGN O76038 VAR_042710 p.Ala216Val Polymorphism rs6942245 - SCHIP1 Q9P0W5 VAR_032534 p.Ala481Val Polymorphism rs17850021 - SCHIP1 Q9P0W5 VAR_051332 p.Glu101Lys Polymorphism rs3732851 - SCIN Q9Y6U3 VAR_057470 p.Phe455Leu Polymorphism rs17166250 - SCIN Q9Y6U3 VAR_057471 p.Leu578Phe Polymorphism rs1138957 - SCIN Q9Y6U3 VAR_059956 p.His61Arg Polymorphism rs2240572 - SCIN Q9Y6U3 VAR_059957 p.Ala443Pro Polymorphism rs35083013 - SCIN Q9Y6U3 VAR_059958 p.Lys500Arg Polymorphism rs35705332 - SCLT1 Q96NL6 VAR_038481 p.Ser441Cys Polymorphism rs10028124 - SCLY Q96I15 VAR_038464 p.Lys52Glu Polymorphism rs7597367 - SCLY Q96I15 VAR_038465 p.Ala175Thr Polymorphism rs3210400 - SCLY Q96I15 VAR_038466 p.Phe276Ser Polymorphism rs35637307 - SCML4 Q8N228 VAR_043669 p.Arg126Gln Polymorphism rs6934505 - SCN10A Q9Y5Y9 VAR_020605 p.Ser509Pro Polymorphism rs7630989 - SCN10A Q9Y5Y9 VAR_020606 p.Val1073Ala Polymorphism rs6795970 - SCN10A Q9Y5Y9 VAR_020607 p.Leu1092Pro Polymorphism rs12632942 - SCN10A Q9Y5Y9 VAR_020608 p.Met1713Val Polymorphism rs6599241 - SCN10A Q9Y5Y9 VAR_048696 p.Gly590Arg Polymorphism rs35332705 - SCN10A Q9Y5Y9 VAR_064748 p.Arg916Trp Unclassified - - SCN11A Q9UI33 VAR_030002 p.Gly481Glu Polymorphism rs13059805 - SCN11A Q9UI33 VAR_030003 p.Met777Arg Polymorphism rs4302324 - SCN11A Q9UI33 VAR_030004 p.Tyr1198His Polymorphism rs12638601 - SCN11A Q9UI33 VAR_048697 p.Val909Ile Polymorphism rs33985936 - SCN1A P35498 VAR_010110 p.Thr875Met Disease rs121918623 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_010111 p.Arg1648His Disease rs121918622 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_010111 p.Arg1648His Disease rs121918622 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_014267 p.Asp188Val Disease rs121917953 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_014268 p.Leu986Phe Disease rs121918625 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_014269 p.Ala1067Thr Polymorphism rs2298771 - SCN1A P35498 VAR_014270 p.Trp1204Arg Disease rs121917930 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_014271 p.Lys1270Thr Disease rs121918626 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_014272 p.Val1353Leu Disease rs121917954 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_014273 p.Ile1656Met Disease rs121917955 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_025281 p.Gln1489Lys Disease rs121918628 Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_025366 p.Met145Thr Disease rs121918631 Familial febrile convulsions type 3A (FEB3A) [MIM:604403] SCN1A P35498 VAR_029660 p.Glu78Asp Disease rs121917933 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029661 p.Arg101Gln Disease rs121917918 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029662 p.Ser103Gly Disease rs121918743 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029663 p.Thr112Ile Disease rs121918745 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029664 p.Gly177Glu Disease rs121918770 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029665 p.Trp190Arg Disease rs121918773 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029666 p.Ile227Ser Disease rs121917937 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029667 p.Ile252Asn Disease rs121918780 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029668 p.Gly265Trp Disease rs121918749 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029669 p.Trp280Arg Disease rs121917938 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029670 p.Thr297Ile Disease rs121918771 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029671 p.Gly343Asp Disease rs121918753 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029672 p.Arg393His Disease rs121917927 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029673 p.Tyr426Asn Disease rs121917940 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029674 p.Arg542Gln Polymorphism rs121918817 - SCN1A P35498 VAR_029675 p.Tyr790Cys Disease rs121918782 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_029676 p.Thr808Ser Disease rs121918758 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029677 p.Phe902Cys Disease rs121918787 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029678 p.Arg931Cys Disease rs121918788 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029679 p.Met934Ile Disease rs121918774 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029680 p.His939Gln Disease rs121918795 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029681 p.Val944Ala Disease rs121917969 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029682 p.Arg946Cys Disease rs121918775 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029683 p.Arg946His Disease rs121917971 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029684 p.Cys959Arg Disease rs121918796 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029685 p.Met960Val Disease rs121918750 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029686 p.Gly979Arg Disease rs121918754 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029687 p.Val983Ala Disease rs121918756 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029688 p.Asn985Ile Disease rs121918747 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029689 p.Asn1011Ile Disease rs121918759 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029690 p.Ile1034Thr Polymorphism rs121918818 - SCN1A P35498 VAR_029691 p.Phe1038Leu Unclassified - - SCN1A P35498 VAR_029692 p.Ser1231Arg Disease rs121918746 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029693 p.Gly1233Arg Disease rs121917911 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029694 p.Phe1263Leu Disease rs121918752 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029695 p.Leu1265Pro Disease rs121918794 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029697 p.Leu1355Pro Disease rs121918776 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029698 p.Ala1326Pro Disease rs121918803 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029699 p.Val1390Met Disease rs121917986 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029700 p.Val1428Ala Disease rs121918627 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_029701 p.Trp1434Arg Disease rs121918789 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029702 p.Gln1450Arg Disease rs121918790 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029703 p.Leu1461Ile Disease rs121918772 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029704 p.Phe1463Ser Disease rs121917946 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029706 p.Val1611Phe Disease rs121918630 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029707 p.Pro1632Ser Disease rs121918755 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029708 p.Arg1648Cys Disease rs121918791 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029709 p.Arg1657Cys Disease rs121918811 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_029710 p.Phe1661Ser Disease rs121918797 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029711 p.Pro1668Ala Disease rs121917948 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029712 p.Gly1674Arg Disease rs121918792 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029713 p.Tyr1694Cys Disease rs121918777 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029714 p.Ala1685Asp Disease rs121918744 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029715 p.Ala1685Val Disease rs121918744 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_029716 p.Phe1692Ser Disease rs121918778 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029717 p.Thr1709Ile Disease rs121918629 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029718 p.Gly1749Glu Disease rs121918798 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029720 p.Met1780Thr Disease rs121917952 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029721 p.Tyr1781Cys Disease rs121918779 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029723 p.Phe1808Leu Disease rs121918757 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_029724 p.Trp1812Gly Disease rs121918751 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029726 p.Phe1831Ser Disease rs121918748 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029727 p.Met1852Thr Disease rs121918783 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_029728 p.Glu1881Asp Disease rs121918804 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029729 p.Thr1909Ile Disease rs121918793 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_029730 p.Ile1955Thr Unclassified - - SCN1A P35498 VAR_029731 p.Glu1957Gly Polymorphism rs121918802 - SCN1A P35498 VAR_043349 p.Tyr84Cys Disease rs121917964 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043350 p.Arg118Ser Disease rs121917959 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043351 p.Thr226Met Disease rs121917984 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043352 p.Ala239Thr Disease rs121917985 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043353 p.Asp366Glu Disease rs121917958 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043354 p.Arg377Gln Disease rs121917957 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_043355 p.Arg393Cys Disease rs121917929 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043356 p.Ala395Pro Disease rs121917988 - SCN1A P35498 VAR_043357 p.Val422Glu Disease rs121917989 - SCN1A P35498 VAR_043358 p.Ser626Gly Unclassified rs121917990 - SCN1A P35498 VAR_043359 p.Met973Val Polymorphism rs121917991 - SCN1A P35498 VAR_043360 p.Leu1207Pro Disease rs121917963 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043361 p.Glu1238Asp Disease rs121917973 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043362 p.Val1335Met Disease rs121917960 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043363 p.Trp1358Ser Disease rs121917961 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043364 p.Val1366Ile Disease rs121918805 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_043364 p.Val1366Ile Disease rs121918805 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A P35498 VAR_043365 p.Tyr1462Cys Disease rs121917962 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_043366 p.Gly1480Val Disease rs121917996 - SCN1A P35498 VAR_043367 p.Phe1543Ser Polymorphism rs121917992 - SCN1A P35498 VAR_043368 p.Arg1596Cys Disease rs121917993 - SCN1A P35498 VAR_043369 p.Arg1636Gln Disease rs121917995 - SCN1A P35498 VAR_043370 p.Arg1657His Disease rs121917994 - SCN1A P35498 VAR_043371 p.Arg1928Gly Polymorphism rs121917956 - SCN1A P35498 VAR_057995 p.Arg946Ser Disease rs121918775 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_057996 p.Gln1489His Disease rs121918633 Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_057997 p.Phe1499Leu Disease rs121918632 Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_057998 p.Asp1742Gly Disease rs121918812 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_057999 p.Val1857Leu Disease rs121918814 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_058000 p.Asp1866Tyr Disease rs121918815 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_064229 p.Arg27Thr Disease rs121917906 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_064230 p.Phe63Leu Disease rs121917907 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064231 p.Phe90Ser Disease rs121918733 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064232 p.Ile91Thr Disease rs121918734 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064233 p.Arg101Trp Disease rs121917965 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064234 p.Ile124Asn Disease rs121918761 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064235 p.Ile171Lys Disease rs121918766 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064236 p.Ala175Thr Disease rs121918767 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064237 p.Asn191Tyr Disease rs121918762 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064238 p.Asp194Asn Disease rs121917935 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064239 p.Ala239Val Disease rs121917909 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064240 p.Ser259Arg Disease rs121918735 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064241 p.Tyr388His Disease rs121918781 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_064242 p.Val406Phe Disease rs121918768 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064243 p.Tyr413Asn Disease rs121917967 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064244 p.Arg604His Disease rs121918769 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064245 p.Leu783Pro Disease rs121917968 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064246 p.Arg862Gln Disease rs121918785 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064247 p.Thr875Lys Disease rs121918623 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064248 p.His939Tyr Disease rs121918736 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064249 p.Val944Glu Disease - Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064250 p.Phe945Leu Disease rs121917970 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064251 p.Gly950Glu Disease rs121917972 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064252 p.Trp952Gly Disease rs121918737 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064253 p.Glu954Lys Disease rs121918786 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064254 p.Thr1210Lys Disease rs121918738 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064255 p.Thr1260Pro Disease rs121918739 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064256 p.Leu1287Pro Disease rs121918740 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064257 p.Glu1308Asp Disease rs121917910 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064258 p.Leu1309Phe Disease rs121918801 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_064259 p.Asn1367Lys Disease rs121918760 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064260 p.Cys1396Gly Disease rs121917987 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064261 p.Gly1433Glu Disease rs121918741 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064262 p.Gly1433Arg Disease rs121917908 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064263 p.Gln1450Lys Disease rs121918806 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064264 p.Leu1514Ser Disease rs121918764 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064265 p.Ile1545Val Disease rs121917975 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064266 p.Gly1586Glu Disease rs121918742 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064267 p.Val1612Ile Disease rs121918808 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064268 p.Val1637Glu Polymorphism rs121918810 - SCN1A P35498 VAR_064269 p.Arg1645Gln Disease rs121917976 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064270 p.Thr1658Met Disease rs121917922 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064271 p.Met1664Lys Disease rs121918765 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064272 p.Trp1726Arg Disease rs121917979 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064273 p.Cys1756Gly Disease rs121918809 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064274 p.Ile1782Met Disease rs121918763 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064275 p.Ala1783Thr Disease rs121917980 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064276 p.Glu1795Lys Disease rs121918813 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_064295 p.Ser74Pro Disease rs121917931 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_064296 p.Thr162Pro Disease rs121917934 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064297 p.Thr217Lys Disease rs121917936 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064298 p.Arg322Ile Disease rs121917928 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064299 p.Arg356Gly Disease rs121917920 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064300 p.Pro358Thr Disease rs121917923 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064301 p.Phe383Leu Disease rs121917939 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064302 p.Arg393Ser Disease rs121917929 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064303 p.Phe403Leu Disease rs121917966 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064304 p.Thr812Arg Disease rs121917941 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064305 p.Glu846Lys Disease rs121917942 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064306 p.Arg859Cys Disease rs121918784 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_064307 p.Leu942Pro Disease rs121917943 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064308 p.Trp957Leu Disease rs121917917 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064309 p.Thr1174Ser Disease rs121918799 Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_064310 p.Ser1231Thr Disease rs121918800 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064311 p.Arg1245Gln Disease rs121917912 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064312 p.Asn1414Tyr Disease rs121917925 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064313 p.Tyr1422Cys Disease rs121917913 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064314 p.Leu1426Arg Disease rs121917944 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064315 p.Pro1451Leu Disease rs121917945 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064316 p.Gly1470Trp Disease rs121917924 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064317 p.Leu1475Ser Disease rs121917947 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064318 p.Arg1575Cys Polymorphism rs121918807 - SCN1A P35498 VAR_064319 p.Cys1588Arg Disease rs121917919 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064320 p.Asp1608Tyr Disease rs121917915 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064321 p.Val1630Met Disease rs121917914 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064322 p.Leu1649Gln Disease - Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] SCN1A P35498 VAR_064323 p.Thr1658Arg Disease rs121917922 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064324 p.Phe1687Ser Disease rs121917932 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] SCN1A P35498 VAR_064325 p.Ser1713Asn Disease rs121918816 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064326 p.Met1714Arg Disease rs121917949 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064327 p.Cys1716Arg Disease rs121917926 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064328 p.Gly1762Glu Disease rs121917950 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064329 p.Ser1773Phe Disease rs121917951 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064330 p.Glu1787Lys Disease rs121917916 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064345 p.Ala1783Val Disease rs121917921 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064346 p.Asp79His Disease rs121917982 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064347 p.Thr199Arg Disease rs121917983 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064348 p.Ala1441Pro Disease rs121917974 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064349 p.Phe1707Val Disease rs121917977 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064350 p.Thr1721Arg Disease rs121917978 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1A P35498 VAR_064351 p.Ile1922Thr Disease rs121917981 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] SCN1B Q07699 VAR_010165 p.Cys121Trp Disease - Generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233] SCN1B Q07699 VAR_062523 p.Asp25Asn Unclassified - - SCN1B Q07699 VAR_062524 p.Glu87Gln Unclassified - - SCN1B Q07699 VAR_062525 p.Val138Ile Polymorphism - - SCN1B Q07699 VAR_062526 p.Lys208Ile Polymorphism - - SCN1B Q07699 VAR_062527 p.Cys211Tyr Polymorphism - - SCN1B Q07699 VAR_062528 p.Gly213Asp Polymorphism - - SCN2A Q99250 VAR_029732 p.Arg19Lys Polymorphism rs17183814 - SCN2A Q99250 VAR_029733 p.Arg188Trp Disease - Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029734 p.Arg223Gln Disease - Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029735 p.Phe385Tyr Polymorphism rs2228988 - SCN2A Q99250 VAR_029736 p.Arg524Gln Polymorphism - - SCN2A Q99250 VAR_029737 p.Val892Ile Disease - Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029738 p.Leu1003Ile Disease - Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029739 p.Arg1319Gln Disease - Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029740 p.Leu1330Phe Disease - Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029741 p.Leu1563Val Disease - Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_029742 p.Arg1902Thr Unclassified - - SCN2A Q99250 VAR_064331 p.Phe328Val Polymorphism - - SCN2A Q99250 VAR_065176 p.Met252Val Disease - Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_065177 p.Val261Met Disease - Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] SCN2A Q99250 VAR_065178 p.Ala263Val Disease - Epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721] SCN2A Q99250 VAR_065179 p.Ala575Val Unclassified - - SCN2A Q99250 VAR_065180 p.Glu1211Lys Disease - Epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721] SCN2A Q99250 VAR_065181 p.Ile1473Met Disease - Epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721] SCN2B O60939 VAR_029131 p.Arg28Trp Polymorphism rs17121819 - SCN2B O60939 VAR_029132 p.Arg47His Polymorphism rs17121818 - SCN3A Q9NY46 VAR_014275 p.Ser606Thr Polymorphism - - SCN3A Q9NY46 VAR_029744 p.Val1107Ala Polymorphism rs12474273 - SCN3A Q9NY46 VAR_029745 p.Leu1813Ser Polymorphism - - SCN3A Q9NY46 VAR_055640 p.Asp1803Asn Polymorphism rs3731762 - SCN3B Q9NY72 VAR_035521 p.Gln89Leu Unclassified - A colorectal cancer sample SCN3B Q9NY72 VAR_035522 p.Ala195Thr Unclassified - A colorectal cancer sample SCN3B Q9NY72 VAR_049928 p.Ser97Asn Polymorphism rs35174956 - SCN3B Q9NY72 VAR_062529 p.Leu10Pro Disease - Brugada syndrome type 7 (BRGDA7) [MIM:613120] SCN3B Q9NY72 VAR_065232 p.Val54Gly Unclassified - - SCN4A P35499 VAR_001560 p.Met135Val Polymorphism - - SCN4A P35499 VAR_001561 p.Ser524Gly Polymorphism rs6504191 - SCN4A P35499 VAR_001562 p.Thr704Met Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001562 p.Thr704Met Disease - Periodic paralysis hyperkalemic (HYPP) [MIM:170500] SCN4A P35499 VAR_001563 p.Ser804Phe Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001564 p.Ala861Asp Polymorphism - - SCN4A P35499 VAR_001565 p.Ala1156Thr Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_001565 p.Ala1156Thr Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001565 p.Ala1156Thr Disease - Periodic paralysis hyperkalemic (HYPP) [MIM:170500] SCN4A P35499 VAR_001566 p.Val1293Ile Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001567 p.Gly1306Ala Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001568 p.Gly1306Glu Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_001568 p.Gly1306Glu Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001569 p.Gly1306Val Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_001569 p.Gly1306Val Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001570 p.Thr1313Met Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001571 p.Leu1433Arg Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001571 p.Leu1433Arg Disease - Periodic paralysis hyperkalemic (HYPP) [MIM:170500] SCN4A P35499 VAR_001572 p.Arg1448Cys Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001573 p.Arg1448His Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001574 p.Val1589Met Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_001575 p.Met1592Val Disease - Periodic paralysis hyperkalemic (HYPP) [MIM:170500] SCN4A P35499 VAR_001575 p.Met1592Val Disease - Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_017785 p.Ser246Leu Polymorphism - - SCN4A P35499 VAR_017786 p.Val445Met Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_017787 p.Asn559Asp Polymorphism rs1047705 - SCN4A P35499 VAR_017788 p.Arg669His Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017789 p.Arg672Gly Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017790 p.Arg672His Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017791 p.Arg672Ser Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017792 p.Pro1158Ser Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_017793 p.Ile1160Val Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_017794 p.Asn1376Asp Polymorphism rs2058194 - SCN4A P35499 VAR_017795 p.Val1442Glu Disease - A congenital myasthenic syndrome acetazolamide-responsive (CMSAR) [MIM:614198] SCN4A P35499 VAR_022341 p.Ala1152Asp Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_037104 p.Arg675Gly Disease - Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_037105 p.Arg675Gln Disease - Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_037106 p.Arg675Trp Disease - Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_037107 p.Gly1456Glu Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_054934 p.Ile141Val Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054935 p.Arg222Trp Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_054936 p.Gln270Lys Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_054937 p.Glu452Lys Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054938 p.Phe671Ser Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054939 p.Arg672Cys Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_054940 p.Ala715Thr Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054941 p.Val781Ile Disease - Periodic paralysis hyperkalemic (HYPP) [MIM:170500] SCN4A P35499 VAR_054941 p.Val781Ile Disease - Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_054942 p.Ser804Asn Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054943 p.Arg1132Gln Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_054944 p.Arg1135His Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_054945 p.Asn1297Lys Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054946 p.Ile1310Asn Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054947 p.Leu1436Pro Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_054948 p.Arg1448Leu Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_054949 p.Phe1473Ser Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_054950 p.Met1476Ile Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054951 p.Ala1481Asp Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_054952 p.Phe1705Ile Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4A P35499 VAR_064987 p.Arg1129Gln Disease - Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] SCN4A P35499 VAR_064987 p.Arg1129Gln Disease - Periodic paralysis normokalemic (NKPP) [MIM:170500] SCN4A P35499 VAR_065230 p.Arg225Trp Disease - Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] SCN4A P35499 VAR_065231 p.Ile693Thr Disease - Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] SCN4B Q8IWT1 VAR_043488 p.Leu179Phe Disease - Long QT syndrome type 10 (LQT10) [MIM:611819] SCN5A Q14524 VAR_001577 p.Asn1325Ser Disease rs28937317 Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_001578 p.Arg1623Gln Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_001579 p.Arg1644His Disease rs28937316 Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_001580 p.Asp1790Gly Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_001581 p.Asp1839Gly Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_008955 p.His558Arg Polymorphism rs1805124 - SCN5A Q14524 VAR_008956 p.Thr1304Met Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_008957 p.Lys1500Asn Polymorphism - - SCN5A Q14524 VAR_008958 p.Thr1645Met Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_008959 p.Glu1784Lys Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_008959 p.Glu1784Lys Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_009935 p.Asp1114Asn Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_009936 p.Leu1501Val Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_009937 p.Arg1623Leu Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_009938 p.Ser1787Asn Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_014464 p.Pro1090Leu Polymorphism rs1805125 - SCN5A Q14524 VAR_015682 p.Leu619Phe Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017670 p.Thr220Ile Disease rs45620037 Sick sinus syndrome type 1 (SSS1) [MIM:608567] SCN5A Q14524 VAR_017671 p.Gly298Ser Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_017672 p.Arg367His Disease rs28937318 Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017673 p.Gly514Cys Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017673 p.Gly514Cys Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_017674 p.Ala735Val Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017674 p.Ala735Val Disease - Sick sinus syndrome type 1 (SSS1) [MIM:608567] SCN5A Q14524 VAR_017675 p.Ser941Asn Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017676 p.Ala997Ser Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017677 p.Ser1103Tyr Polymorphism rs7626962 - SCN5A Q14524 VAR_017678 p.Arg1193Gln Disease rs41261344 Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017678 p.Arg1193Gln Disease rs41261344 Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017679 p.Arg1232Trp Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017679 p.Arg1232Trp Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_017680 p.Pro1298Leu Disease rs28937319 Sick sinus syndrome type 1 (SSS1) [MIM:608567] SCN5A Q14524 VAR_017681 p.Gly1408Arg Disease rs28936971 Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017681 p.Gly1408Arg Disease rs28936971 Sick sinus syndrome type 1 (SSS1) [MIM:608567] SCN5A Q14524 VAR_017682 p.Arg1512Trp Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017683 p.Asp1595Asn Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_017684 p.Thr1620Met Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_017685 p.Ser1710Leu Disease - Familial paroxysmal ventricular fibrillation type 1 (VF1) [MIM:603829] SCN5A Q14524 VAR_017687 p.Arg1826His Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_017688 p.Ala1924Thr Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_019123 p.Tyr1795Cys Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_019124 p.Tyr1795His Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026341 p.Arg27His Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026342 p.Arg34Cys Polymorphism rs6791924 - SCN5A Q14524 VAR_026343 p.Lys126Glu Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026344 p.Glu161Lys Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026344 p.Glu161Lys Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_026345 p.Thr187Ile Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026346 p.Ala226Val Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026347 p.Ile230Val Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026348 p.Arg282His Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026349 p.Val294Met Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026350 p.Gly319Ser Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026351 p.Gly351Val Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026352 p.Asp356Asn Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026353 p.Arg367Cys Disease rs28937318 Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026354 p.Met369Lys Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026356 p.Gly552Arg Polymorphism rs3918389 - SCN5A Q14524 VAR_026357 p.Leu567Gln Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026358 p.Gly615Glu Disease rs12720452 Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_026359 p.His681Pro Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026360 p.Ala735Glu Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026361 p.Gly752Arg Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026361 p.Gly752Arg Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_026362 p.Phe851Leu Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026363 p.Phe892Ile Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026364 p.Cys896Ser Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026365 p.Ser910Leu Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026366 p.Arg965Cys Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026367 p.Arg1027Gln Polymorphism - - SCN5A Q14524 VAR_026368 p.Glu1053Lys Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026368 p.Glu1053Lys Disease - Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_026369 p.Glu1225Lys Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026369 p.Glu1225Lys Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_026370 p.Lys1236Asn Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026371 p.Glu1240Gln Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026372 p.Phe1250Leu Disease rs45589741 Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_026373 p.Asp1275Asn Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026373 p.Asp1275Asn Disease - Cardiomyopathy dilated type 1E (CMD1E) [MIM:601154] SCN5A Q14524 VAR_026373 p.Asp1275Asn Disease - Familial atrial standstill (FAS) [MIM:108770] SCN5A Q14524 VAR_026373 p.Asp1275Asn Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_026374 p.Phe1293Ser Disease rs41311127 Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026375 p.Gly1319Val Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026376 p.Phe1344Ser Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026377 p.Ser1382Ile Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026378 p.Val1405Leu Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026379 p.Gly1406Arg Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026382 p.Gly1502Ser Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026383 p.Asp1714Gly Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026384 p.Gly1740Arg Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026385 p.Gly1743Glu Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026386 p.Val1951Leu Disease rs41315493 Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_026386 p.Val1951Leu Disease rs41315493 Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036660 p.Gly9Val Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036661 p.Arg225Gln Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036662 p.Thr512Ile Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_036663 p.Ser524Tyr Polymorphism rs41313691 - SCN5A Q14524 VAR_036664 p.Gly639Arg Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036665 p.Gly1262Ser Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_036666 p.Ser1333Tyr Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036666 p.Ser1333Tyr Disease - Sudden infant death syndrome (SIDS) [MIM:272120] SCN5A Q14524 VAR_036667 p.Ser1609Trp Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_036668 p.Asp1819Asn Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_047360 p.Leu618Phe Polymorphism rs45488304 - SCN5A Q14524 VAR_047361 p.Asp1041Asn Polymorphism rs45491996 - SCN5A Q14524 VAR_047362 p.Ala1180Val Polymorphism rs41310765 - SCN5A Q14524 VAR_055159 p.Arg43Gln Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055160 p.Val95Ile Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055161 p.Met138Ile Disease - Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055162 p.Leu212Pro Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_055163 p.Ser216Leu Unclassified rs41276525 - SCN5A Q14524 VAR_055164 p.Arg225Trp Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_055165 p.Val232Ile Polymorphism rs45471994 - SCN5A Q14524 VAR_055166 p.Leu325Arg Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055167 p.Pro336Leu Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055168 p.Thr353Ile Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055169 p.Arg376His Unclassified - - SCN5A Q14524 VAR_055170 p.Asn406Lys Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055171 p.Asn406Ser Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055172 p.Glu428Lys Disease - Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055173 p.His445Asp Disease - Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055174 p.Leu461Val Polymorphism rs41313697 - SCN5A Q14524 VAR_055175 p.Asn470Lys Disease - Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055176 p.Arg481Trp Unclassified - - SCN5A Q14524 VAR_055177 p.Phe532Cys Disease - Sudden infant death syndrome (SIDS) [MIM:272120] SCN5A Q14524 VAR_055178 p.Ala572Asp Disease rs36210423 Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055178 p.Ala572Asp Disease rs36210423 Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055180 p.Glu655Lys Disease - Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055181 p.Arg680His Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055182 p.Arg814Gln Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055183 p.Arg878Cys Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055184 p.Arg1023His Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055185 p.Gly1084Ser Disease - Sudden infant death syndrome (SIDS) [MIM:272120] SCN5A Q14524 VAR_055186 p.Thr1131Ile Disease - Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055187 p.Glu1295Lys Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055188 p.Leu1308Phe Polymorphism rs41313031 - SCN5A Q14524 VAR_055189 p.Ala1330Pro Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055190 p.Ala1330Thr Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055191 p.Pro1332Leu Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055192 p.Arg1432Gly Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055193 p.Pro1438Leu Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055194 p.Phe1473Cys Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055195 p.Phe1486Leu Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055196 p.Tyr1494Asn Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055198 p.Lys1527Arg Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055199 p.Ala1569Pro Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055201 p.Thr1620Lys Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055201 p.Thr1620Lys Disease - Progressive familial heart block type 1A (PFHB1A) [MIM:113900] SCN5A Q14524 VAR_055202 p.Arg1626Pro Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055203 p.Arg1644Cys Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055203 p.Arg1644Cys Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055204 p.Ala1649Val Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055205 p.Met1652Arg Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055206 p.Ile1660Val Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055207 p.Phe1705Ser Disease - Sudden infant death syndrome (SIDS) [MIM:272120] SCN5A Q14524 VAR_055208 p.Gly1743Arg Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055209 p.Val1763Met Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055210 p.Met1766Leu Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055211 p.Ile1768Val Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055212 p.Val1777Met Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055213 p.Leu1825Pro Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055214 p.Arg1826Cys Disease - Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055215 p.Cys1850Ser Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055216 p.Met1875Thr Unclassified - - SCN5A Q14524 VAR_055217 p.Ser1904Leu Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055218 p.Gly1935Ser Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055219 p.Val1951Met Disease - Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] SCN5A Q14524 VAR_055220 p.Ile1968Ser Disease - Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055221 p.Phe2004Leu Disease rs41311117 Brugada syndrome type 1 (BRGDA1) [MIM:601144] SCN5A Q14524 VAR_055221 p.Phe2004Leu Disease rs41311117 Long QT syndrome type 3 (LQT3) [MIM:603830] SCN5A Q14524 VAR_055222 p.Pro2006Ala Disease - Long QT syndrome type 3 (LQT3) [MIM:603830] SCN7A Q01118 VAR_024410 p.Ile407Val Polymorphism rs11888208 - SCN7A Q01118 VAR_055641 p.Met600Leu Polymorphism rs34183637 - SCN7A Q01118 VAR_055642 p.Ala1313Val Polymorphism rs6760593 - SCN7A Q01118 VAR_055643 p.Arg1516Lys Polymorphism rs34799257 - SCN7A Q01118 VAR_055644 p.Val1596Leu Polymorphism rs3791251 - SCN7A Q01118 VAR_055645 p.Asp1657Gly Polymorphism rs35344714 - SCN7A Q01118 VAR_063120 p.Thr41Asn Polymorphism rs7565062 - SCN7A Q01118 VAR_063121 p.Met958Ile Polymorphism rs6738031 - SCN9A Q15858 VAR_019947 p.Ile859Thr Disease - Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_019948 p.Leu869His Disease - Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_019949 p.Trp1161Arg Polymorphism rs6746030 - SCN9A Q15858 VAR_019950 p.Asp1919Gly Polymorphism rs3750904 - SCN9A Q15858 VAR_030444 p.Met932Leu Polymorphism rs12478318 - SCN9A Q15858 VAR_032014 p.Ser241Thr Disease - Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_032015 p.Arg1007Cys Disease - Paroxysmal extreme pain disorder (PEPD) [MIM:167400] SCN9A Q15858 VAR_032016 p.Val1309Asp Disease - Paroxysmal extreme pain disorder (PEPD) [MIM:167400] SCN9A Q15858 VAR_032017 p.Val1309Phe Disease - Paroxysmal extreme pain disorder (PEPD) [MIM:167400] SCN9A Q15858 VAR_032018 p.Val1310Phe Disease - Paroxysmal extreme pain disorder (PEPD) [MIM:167400] SCN9A Q15858 VAR_032019 p.Phe1460Val Disease - Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_032020 p.Ile1472Thr Disease - Paroxysmal extreme pain disorder (PEPD) [MIM:167400] SCN9A Q15858 VAR_032021 p.Phe1473Val Disease - Paroxysmal extreme pain disorder (PEPD) [MIM:167400] SCN9A Q15858 VAR_032022 p.Thr1475Ile Disease - Paroxysmal extreme pain disorder (PEPD) [MIM:167400] SCN9A Q15858 VAR_032023 p.Met1638Lys Disease - Paroxysmal extreme pain disorder (PEPD) [MIM:167400] SCN9A Q15858 VAR_055646 p.Met943Leu Polymorphism rs12478318 - SCN9A Q15858 VAR_064595 p.Gln10Arg Disease - Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_064596 p.Ile62Val Disease - Familial febrile convulsions type 3B (FEB3B) [MIM:613863] SCN9A Q15858 VAR_064597 p.Pro149Gln Disease - Familial febrile convulsions type 3B (FEB3B) [MIM:613863] SCN9A Q15858 VAR_064598 p.Phe216Ser Disease - Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_064599 p.Ile228Met Polymorphism - - SCN9A Q15858 VAR_064600 p.Asn395Lys Disease - Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_064601 p.Glu406Lys Disease - Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_064602 p.Ser490Asn Polymorphism - - SCN9A Q15858 VAR_064603 p.Glu519Lys Polymorphism - - SCN9A Q15858 VAR_064604 p.Asn641Tyr Disease - Generalized epilepsy with febrile seizures plus type 7 (GEFS+7) [MIM:613863] SCN9A Q15858 VAR_064605 p.Lys666Arg Disease - Generalized epilepsy with febrile seizures plus type 7 (GEFS+7) [MIM:613863] SCN9A Q15858 VAR_064606 p.Ile695Met Polymorphism - - SCN9A Q15858 VAR_064607 p.Cys710Tyr Unclassified - - SCN9A Q15858 VAR_064608 p.Ile750Val Polymorphism - - SCN9A Q15858 VAR_064609 p.Leu869Phe Disease - Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A Q15858 VAR_064610 p.Arg907Gln Disease - Congenital indifference to pain autosomal recessive (CIPAR) [MIM:243000] SCN9A Q15858 VAR_064611 p.Leu1134Phe Polymorphism - - SCN9A Q15858 VAR_064612 p.Glu1171Gln Unclassified - - SCN9A Q15858 VAR_064613 p.Leu1278Val Polymorphism - - SCNN1A P37088 VAR_015833 p.Trp493Arg Polymorphism rs5742912 - SCNN1A P37088 VAR_015834 p.Ser562Leu Disease - Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350] SCNN1A P37088 VAR_015835 p.Thr663Ala Polymorphism rs2228576 - SCNN1A P37088 VAR_022142 p.Cys618Phe Polymorphism rs3741913 - SCNN1A P37088 VAR_026518 p.Gly327Cys Disease - Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350] SCNN1A P37088 VAR_052035 p.Pro402His Polymorphism rs13306616 - SCNN1A P37088 VAR_060793 p.Phe61Leu Disease rs61758859 Bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021] SCNN1A P37088 VAR_060794 p.Val114Ile Disease rs61759861 Bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021] SCNN1A P37088 VAR_060795 p.Arg181Trp Polymorphism rs55797039 - SCNN1A P37088 VAR_060796 p.Ala334Thr Polymorphism rs11542844 - SCNN1A P37088 VAR_060797 p.Val573Ile Polymorphism rs59142484 - SCNN1B P51168 VAR_007127 p.Gly37Ser Disease - Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350] SCNN1B P51168 VAR_007128 p.Pro616Leu Disease - Liddle syndrome (LIDDS) [MIM:177200] SCNN1B P51168 VAR_007129 p.Pro616Ser Disease - Liddle syndrome (LIDDS) [MIM:177200] SCNN1B P51168 VAR_014891 p.Gly442Val Polymorphism rs1799980 - SCNN1B P51168 VAR_014892 p.Thr594Met Polymorphism rs1799979 - SCNN1B P51168 VAR_015836 p.Ala336Pro Polymorphism - - SCNN1B P51168 VAR_015837 p.Val434Met Polymorphism - - SCNN1B P51168 VAR_015838 p.Gly589Ser Polymorphism - - SCNN1B P51168 VAR_015839 p.Arg597His Polymorphism - - SCNN1B P51168 VAR_015840 p.Arg624Cys Polymorphism - - SCNN1B P51168 VAR_015841 p.Glu632Gly Polymorphism - - SCNN1B P51168 VAR_026519 p.Arg563Gln Unclassified - - SCNN1B P51168 VAR_026520 p.Pro617Ser Disease - Liddle syndrome (LIDDS) [MIM:177200] SCNN1B P51168 VAR_026521 p.Pro618Arg Disease - Liddle syndrome (LIDDS) [MIM:177200] SCNN1B P51168 VAR_026522 p.Tyr620His Disease - Liddle syndrome (LIDDS) [MIM:177200] SCNN1B P51168 VAR_036480 p.Ala311Val Unclassified - A colorectal cancer sample SCNN1B P51168 VAR_036481 p.Ala314Val Unclassified - A breast cancer sample SCNN1B P51168 VAR_036482 p.Leu387Val Unclassified - A breast cancer sample SCNN1B P51168 VAR_062401 p.Ser82Cys Disease - Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062402 p.Pro267Leu Disease - Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062403 p.Asn288Ser Disease - Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062404 p.Gly294Ser Disease - Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062405 p.Val348Met Disease - Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062406 p.Pro369Thr Disease - Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] SCNN1B P51168 VAR_062407 p.Glu539Lys Disease - Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] SCNN1D P51172 VAR_028209 p.Arg180Pro Polymorphism rs11260579 - SCNN1D P51172 VAR_028210 p.Glu380Gln Polymorphism rs2228579 - SCNN1D P51172 VAR_028211 p.Ala472Thr Polymorphism rs13306651 - SCNN1D P51172 VAR_028212 p.Cys532Tyr Polymorphism rs1053844 - SCNN1D P51172 VAR_028213 p.Gly562Ser Polymorphism rs6690013 - SCNN1D P51172 VAR_028214 p.Gly606Arg Polymorphism rs609805 - SCNN1G P51170 VAR_014893 p.Gly49Cys Polymorphism rs5733 - SCNN1G P51170 VAR_014894 p.Gly183Ser Polymorphism rs5736 - SCNN1G P51170 VAR_015842 p.Arg178Trp Polymorphism - - SCNN1G P51170 VAR_015843 p.Ala502Pro Polymorphism - - SCNN1G P51170 VAR_015844 p.Ala614Ser Polymorphism - - SCNN1G P51170 VAR_034485 p.Glu197Lys Polymorphism rs5738 - SCNN1G P51170 VAR_036483 p.Gly58Arg Unclassified - A colorectal cancer sample SCO1 O75880 VAR_012109 p.Pro174Leu Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] SCO1 O75880 VAR_014537 p.Pro58Ser Polymorphism rs1802083 - SCO2 O43819 VAR_008874 p.Glu140Lys Disease - Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377] SCO2 O43819 VAR_008875 p.Ser225Phe Disease - Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377] SCO2 O43819 VAR_011738 p.Arg20Pro Polymorphism rs140523 - SCO2 O43819 VAR_013238 p.Arg171Trp Disease rs28937598 Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377] SCO2 O43819 VAR_051912 p.Ala259Val Polymorphism rs8139305 - SCP2D1 Q9UJQ7 VAR_024332 p.Pro99Ser Polymorphism rs1053839 - SCP2 P22307 VAR_035706 p.Ala155Asp Unclassified - A breast cancer sample SCPEP1 Q9HB40 VAR_048684 p.Leu3Val Polymorphism rs34108204 - SCPEP1 Q9HB40 VAR_048685 p.Val241Ile Polymorphism rs16957938 - SCRG1 O75711 VAR_020329 p.Pro42Leu Polymorphism rs2306465 - SCRIB Q14160 VAR_019429 p.Pro422Leu Polymorphism rs6558394 - SCRN1 Q12765 VAR_029512 p.Gln338Arg Polymorphism rs17324153 - SCRN1 Q12765 VAR_057709 p.Ser189Asn Polymorphism rs35960711 - SCRN2 Q96FV2 VAR_029509 p.Lys103Arg Polymorphism rs17856536 - SCRN2 Q96FV2 VAR_029510 p.Met323Val Polymorphism rs7350974 - SCRN2 Q96FV2 VAR_029511 p.Ser411Gly Polymorphism rs17856535 - SCRN2 Q96FV2 VAR_035263 p.Glu273Gln Polymorphism rs35901087 - SCRN2 Q96FV2 VAR_035264 p.Gln330Arg Polymorphism rs34480825 - SCRN3 Q0VDG4 VAR_034487 p.Val179Ala Polymorphism rs6716400 - SCRN3 Q0VDG4 VAR_053611 p.Asp18Asn Polymorphism rs10497410 - SCRT1 Q9BWW7 VAR_045990 p.Ser133Ala Polymorphism rs7013127 - SCTR P47872 VAR_033970 p.Ala122Pro Polymorphism rs3731600 - SCTR P47872 VAR_049456 p.Asp110Asn Polymorphism rs6726491 - SCUBE1 Q8IWY4 VAR_028850 p.Gly398Arg Polymorphism rs129415 - SCUBE1 Q8IWY4 VAR_028851 p.Ser648Pro Polymorphism rs138993 - SCUBE2 Q9NQ36 VAR_028870 p.Thr591Met Polymorphism rs3751055 - SCUBE2 Q9NQ36 VAR_028871 p.His712Gln Polymorphism rs7395988 - SCUBE2 Q9NQ36 VAR_028872 p.Val752Gly Polymorphism rs12419343 - SCUBE2 Q9NQ36 VAR_028873 p.Thr791Ser Polymorphism rs3751057 - SCUBE2 Q9NQ36 VAR_028874 p.Pro843Arg Polymorphism rs3751059 - SCUBE3 Q8IX30 VAR_048994 p.Ser410Leu Polymorphism rs3800381 - SCYL1 Q96KG9 VAR_041364 p.Pro479Leu Polymorphism rs55977709 - SCYL1 Q96KG9 VAR_041365 p.His495Tyr Unclassified - A metastatic melanoma sample SCYL1 Q96KG9 VAR_041366 p.Gln663His Polymorphism rs56076708 - SCYL1 Q96KG9 VAR_041367 p.Trp755Ser Polymorphism rs56077405 - SCYL2 Q6P3W7 VAR_041368 p.Pro357Leu Polymorphism rs33968174 - SCYL2 Q6P3W7 VAR_041369 p.Thr720Ser Polymorphism - - SCYL2 Q6P3W7 VAR_041370 p.Gln863His Unclassified - A lung adenocarcinoma sample SCYL3 Q8IZE3 VAR_051690 p.Gly597Ala Polymorphism rs12143301 - SCYL3 Q8IZE3 VAR_051691 p.Gln621Arg Polymorphism rs4656197 - SDAD1 Q9NVU7 VAR_032312 p.Lys258Gln Polymorphism rs15481 - SDAD1 Q9NVU7 VAR_032313 p.Ala490Asp Polymorphism rs34627298 - SDAD1 Q9NVU7 VAR_032314 p.Ser575Cys Polymorphism rs2242471 - SDAD1 Q9NVU7 VAR_032315 p.Val660Ile Polymorphism rs17001276 - SDC1 P18827 VAR_052242 p.Thr76Met Polymorphism rs2230922 - SDC1 P18827 VAR_052243 p.Leu136Gln Polymorphism rs10205485 - SDC2 P34741 VAR_034675 p.Ala59Thr Polymorphism rs3816208 - SDC2 P34741 VAR_034676 p.Ser71Thr Polymorphism rs1042381 - SDC3 O75056 VAR_027251 p.Val208Ile Polymorphism rs2491132 - SDC3 O75056 VAR_027252 p.Asp303Asn Polymorphism rs4949184 - SDC3 O75056 VAR_027253 p.Thr329Ile Polymorphism rs2282440 - SDC4 P31431 VAR_021851 p.Phe12Leu Polymorphism rs4458268 - SDCBP2 Q9H190 VAR_036544 p.Arg191Gln Unclassified rs35367003 A colorectal cancer sample SDCBP2 Q9H190 VAR_053700 p.Val182Met Polymorphism rs2273959 - SDCBP2 Q9H190 VAR_053701 p.Arg223Cys Polymorphism rs1048621 - SDCBP2 Q9H190 VAR_053702 p.Gly242Arg Polymorphism rs4814111 - SDCBP O00560 VAR_013160 p.Asn69Ser Polymorphism rs1127509 - SDCBP O00560 VAR_053699 p.Pro26Thr Polymorphism rs11550282 - SDCCAG3 Q96C92 VAR_039687 p.Leu157Val Polymorphism rs7047681 - SDCCAG3 Q96C92 VAR_039688 p.Glu176Gly Polymorphism rs17851182 - SDCCAG3 Q96C92 VAR_039689 p.Arg304Gln Polymorphism rs3812577 - SDCCAG3 Q96C92 VAR_039690 p.Val379Met Polymorphism rs1131992 - SDCCAG3 Q96C92 VAR_039691 p.Val428Ile Polymorphism rs17855450 - SDCCAG8 Q86SQ7 VAR_051333 p.Glu378Asp Polymorphism rs2275155 - SDE2 Q6IQ49 VAR_032068 p.Met312Ile Polymorphism rs34348128 - SDF2 Q99470 VAR_051913 p.Ala15Thr Polymorphism rs35404078 - SDF4 Q9BRK5 VAR_035461 p.Ala148Thr Unclassified - A colorectal cancer sample SDF4 Q9BRK5 VAR_048659 p.Asn50Asp Polymorphism rs12745364 - SDHAF1 A6NFY7 VAR_058097 p.Arg55Pro Disease - Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] SDHAF1 A6NFY7 VAR_058098 p.Gly57Arg Disease - Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] SDHAF2 Q9NX18 VAR_058705 p.Gly78Arg Disease - Paragangliomas type 2 (PGL2) [MIM:601650] SDHA P31040 VAR_002449 p.Arg554Trp Disease - Leigh syndrome (LS) [MIM:256000] SDHA P31040 VAR_016878 p.Ala524Val Disease - Leigh syndrome (LS) [MIM:256000] SDHA P31040 VAR_016879 p.Gly555Glu Disease - Cardiomyopathy dilated type 1GG (CMD1GG) [MIM:613642] SDHA P31040 VAR_016879 p.Gly555Glu Disease - Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] SDHA P31040 VAR_049214 p.Phe33Val Polymorphism rs1061518 - SDHA P31040 VAR_049215 p.Asp38Val Polymorphism rs34635677 - SDHA P31040 VAR_049216 p.Glu240Gln Polymorphism rs1041946 - SDHA P31040 VAR_049217 p.Val657Ile Polymorphism rs6962 - SDHA P31040 VAR_059307 p.Val333Ile Polymorphism rs1062468 - SDHB P21912 VAR_017868 p.Pro197Arg Disease - Paragangliomas type 4 (PGL4) [MIM:115310] SDHB P21912 VAR_017869 p.Arg242His Unclassified - Familial malignant paraganglioma and pheochromocytoma SDHB P21912 VAR_017869 p.Arg242His Disease - Paragangliomas type 4 (PGL4) [MIM:115310] SDHB P21912 VAR_017869 p.Arg242His Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_018517 p.Leu87Ser Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_018518 p.Pro131Arg Disease - Paragangliomas type 4 (PGL4) [MIM:115310] SDHB P21912 VAR_035064 p.Arg46Gly Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_035065 p.Cys101Tyr Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_035066 p.Cys192Arg Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_035067 p.Cys196Tyr Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_037620 p.Ser100Phe Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_037621 p.His132Pro Disease - Paragangliomas type 4 (PGL4) [MIM:115310] SDHB P21912 VAR_054374 p.Ala3Gly Polymorphism rs11203289 - SDHB P21912 VAR_054375 p.Lys40Glu Polymorphism - - SDHB P21912 VAR_054376 p.Ala43Pro Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_054377 p.Arg46Gln Disease - Paragangliomas type 4 (PGL4) [MIM:115310] SDHB P21912 VAR_054377 p.Arg46Gln Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_054378 p.Gly53Arg Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_054379 p.Leu65His Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_054380 p.Leu65Pro Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_054381 p.Ile127Asn Disease - Pheochromocytoma (PCC) [MIM:171300] SDHB P21912 VAR_054382 p.Ser163Pro Polymorphism rs33927012 - SDHB P21912 VAR_054383 p.Arg230Cys Disease - Pheochromocytoma (PCC) [MIM:171300] SDHD O14521 VAR_010038 p.Pro81Leu Disease - Paragangliomas type 1 (PGL1) [MIM:168000] SDHD O14521 VAR_010038 p.Pro81Leu Disease - Pheochromocytoma (PCC) [MIM:171300] SDHD O14521 VAR_010039 p.Asp92Tyr Disease - Paragangliomas type 1 (PGL1) [MIM:168000] SDHD O14521 VAR_010039 p.Asp92Tyr Disease - Pheochromocytoma (PCC) [MIM:171300] SDHD O14521 VAR_010040 p.His102Leu Disease - Paragangliomas type 1 (PGL1) [MIM:168000] SDHD O14521 VAR_017870 p.Gly12Ser Polymorphism rs34677591 - SDHD O14521 VAR_017871 p.His50Arg Polymorphism rs11214077 - SDHD O14521 VAR_017872 p.Tyr114Cys Disease - Paragangliomas type 1 (PGL1) [MIM:168000] SDHD O14521 VAR_017873 p.Leu139Pro Disease - Paragangliomas type 1 (PGL1) [MIM:168000] SDHD O14521 VAR_054384 p.His145Asn Unclassified - - SDHD O14521 VAR_054385 p.Gly148Val Disease - Paragangliomas type 1 (PGL1) [MIM:168000] SDK1 Q7Z5N4 VAR_025529 p.Asp1016Asn Polymorphism rs11978101 - SDK1 Q7Z5N4 VAR_025530 p.His1641Arg Polymorphism rs671694 - SDPR O95810 VAR_034422 p.Glu130Asp Polymorphism rs35012125 - SDR16C5 Q8N3Y7 VAR_035234 p.Arg62Trp Polymorphism rs4151643 - SDR39U1 Q9NRG7 VAR_057465 p.Gly207Val Polymorphism rs11538256 - SDR39U1 Q9NRG7 VAR_057466 p.Leu258Phe Polymorphism rs3211056 - SDR39U1 Q9NRG7 VAR_060623 p.Ile105Leu Polymorphism rs11625819 - SDR39U1 Q9NRG7 VAR_060624 p.Gln296Arg Polymorphism rs1043831 - SDR42E1 Q8WUS8 VAR_055344 p.Ser10Thr Polymorphism rs6564956 - SDR42E1 Q8WUS8 VAR_055345 p.Lys96Glu Polymorphism rs16956174 - SDR42E1 Q8WUS8 VAR_055346 p.Gly320Asp Polymorphism rs3813012 - SEBOX Q9HB31 VAR_037228 p.Leu207Ser Polymorphism rs9910163 - SEC13 P55735 VAR_053413 p.Ser172Leu Polymorphism rs34078590 - SEC14L1 Q92503 VAR_057173 p.Val37Met Polymorphism rs1049416 - SEC14L1 Q92503 VAR_060480 p.Ala97Gly Polymorphism rs1049422 - SEC14L1 Q92503 VAR_060481 p.Tyr98His Polymorphism rs1049423 - SEC14L1 Q92503 VAR_060482 p.Thr188Pro Polymorphism rs673918 - SEC14L2 O76054 VAR_024626 p.Arg11Lys Polymorphism rs757660 - SEC14L3 Q9UDX4 VAR_022097 p.Asp335Glu Polymorphism rs2240345 - SEC14L3 Q9UDX4 VAR_024627 p.Ile103Thr Polymorphism rs4820853 - SEC14L3 Q9UDX4 VAR_024628 p.Arg214His Polymorphism rs2269961 - SEC14L3 Q9UDX4 VAR_061787 p.Arg364Cys Polymorphism rs35764129 - SEC14L4 Q9UDX3 VAR_024629 p.Ser3Gly Polymorphism rs9608956 - SEC14L4 Q9UDX3 VAR_051914 p.Arg124Gly Polymorphism rs9606739 - SEC14L4 Q9UDX3 VAR_051915 p.Val200Met Polymorphism rs17738540 - SEC14L4 Q9UDX3 VAR_051916 p.Glu211Lys Polymorphism rs17738527 - SEC16A O15027 VAR_023332 p.Arg861Cys Polymorphism rs3812594 - SEC16B Q96JE7 VAR_044130 p.His292Arg Polymorphism rs12040910 - SEC16B Q96JE7 VAR_044131 p.Gly730Arg Polymorphism rs943762 - SEC16B Q96JE7 VAR_044132 p.Gln845His Polymorphism rs7522194 - SEC16B Q96JE7 VAR_044133 p.Pro864Ala Polymorphism rs591120 - SEC16B Q96JE7 VAR_044134 p.Ser873Asn Polymorphism rs3813649 - SEC22B O75396 VAR_057343 p.Arg108Gln Polymorphism rs2655551 - SEC22B O75396 VAR_057344 p.Trp214Cys Polymorphism rs7534444 - SEC22B O75396 VAR_060311 p.Asp71Tyr Polymorphism rs2596331 - SEC22B O75396 VAR_060312 p.Thr82Lys Polymorphism rs2794053 - SEC22B O75396 VAR_060313 p.Cys130Arg Polymorphism rs2590131 - SEC22B O75396 VAR_060314 p.His190Arg Polymorphism rs2655557 - SEC23A Q15436 VAR_031029 p.Leu211Val Polymorphism rs8018720 - SEC23A Q15436 VAR_031030 p.Phe382Leu Disease - Craniolenticulosutural dysplasia (CLSD) [MIM:607812] SEC23B Q15437 VAR_020318 p.His489Gln Polymorphism rs2273526 - SEC23B Q15437 VAR_034482 p.Pro433Leu Polymorphism rs17807673 - SEC23B Q15437 VAR_062294 p.Arg14Trp Disease - Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] SEC23B Q15437 VAR_062295 p.Arg18His Polymorphism - - SEC23B Q15437 VAR_062296 p.Glu109Lys Disease - Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] SEC23B Q15437 VAR_062297 p.Asp239Gly Unclassified - - SEC23B Q15437 VAR_062298 p.Arg313His Polymorphism - - SEC23B Q15437 VAR_062299 p.Ile318Thr Polymorphism - - SEC23B Q15437 VAR_062300 p.Asp348Ala Disease - Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] SEC23B Q15437 VAR_062301 p.Met373Val Polymorphism rs17849992 - SEC23B Q15437 VAR_062302 p.Gln386Arg Polymorphism - - SEC23B Q15437 VAR_062303 p.Val426Ile Polymorphism rs41309927 - SEC23B Q15437 VAR_062304 p.Tyr462Cys Polymorphism - - SEC23B Q15437 VAR_062305 p.Arg497Cys Disease - Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] SEC23B Q15437 VAR_062306 p.Ala524Val Polymorphism - - SEC23B Q15437 VAR_062307 p.Arg530Trp Disease - Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] SEC23B Q15437 VAR_062308 p.Ser603Leu Disease - Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] SEC23B Q15437 VAR_062309 p.Arg701Cys Disease - Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] SEC23IP Q9Y6Y8 VAR_019806 p.Lys644Glu Polymorphism rs2475298 - SEC24A O95486 VAR_037253 p.Ser261Gly Polymorphism rs7718102 - SEC24A O95486 VAR_037254 p.Thr302Ile Polymorphism rs17851746 - SEC24A O95486 VAR_037255 p.Thr396Met Polymorphism rs17851745 - SEC24B O95487 VAR_047934 p.Ala456Gly Polymorphism rs35705351 - SEC24C P53992 VAR_057174 p.Leu934Pro Polymorphism rs16930872 - SEC24C P53992 VAR_058690 p.Pro109Ser Polymorphism rs17851695 - SEC24D O94855 VAR_047472 p.Met42Thr Polymorphism rs10029206 - SEC24D O94855 VAR_047473 p.Pro193Leu Polymorphism rs6844109 - SEC24D O94855 VAR_047474 p.Phe496Ile Polymorphism rs11723368 - SEC31A O94979 VAR_033225 p.Ile263Val Polymorphism rs34554214 - SEC31A O94979 VAR_033226 p.Pro841Leu Polymorphism rs35579207 - SEC31A O94979 VAR_033227 p.Pro1055Thr Polymorphism rs35739017 - SEC31A O94979 VAR_053414 p.Asn456Lys Polymorphism rs3797036 - SEC31B Q9NQW1 VAR_033228 p.Val89Ala Polymorphism rs3763695 - SEC31B Q9NQW1 VAR_033229 p.Tyr100Cys Polymorphism rs7074707 - SEC31B Q9NQW1 VAR_033230 p.Leu129Phe Polymorphism rs3793706 - SEC31B Q9NQW1 VAR_033231 p.Ser332Ala Polymorphism rs2295774 - SEC31B Q9NQW1 VAR_033232 p.Pro372Ser Polymorphism rs2295772 - SEC31B Q9NQW1 VAR_033233 p.Ser527Arg Polymorphism rs17113157 - SEC31B Q9NQW1 VAR_033234 p.Ala1169Ser Polymorphism rs2298075 - SEC31B Q9NQW1 VAR_053415 p.Arg433Gln Polymorphism rs2295771 - SEC31B Q9NQW1 VAR_053416 p.Arg478Thr Polymorphism rs11819496 - SEC63 Q9UGP8 VAR_061146 p.Val556Ile Polymorphism rs17854547 - SECISBP2 Q96T21 VAR_025282 p.Arg540Gln Disease - Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698] SECISBP2 Q96T21 VAR_061704 p.Gln428Glu Polymorphism rs45452691 - SEH1L Q96EE3 VAR_053417 p.Thr342Asn Polymorphism rs6505776 - SEL1L2 Q5TEA6 VAR_035172 p.His687Gln Polymorphism rs2073290 - SEL1L2 Q5TEA6 VAR_053964 p.Gly477Ser Polymorphism rs11697581 - SEL1L3 Q68CR1 VAR_039369 p.Ile401Val Polymorphism rs16877591 - SEL1L3 Q68CR1 VAR_053965 p.Gln107Arg Polymorphism rs16877661 - SEL1L3 Q68CR1 VAR_053966 p.Ile554Val Polymorphism rs16877591 - SEL1L3 Q68CR1 VAR_053967 p.Trp1054Cys Polymorphism rs2286866 - SEL1L3 Q68CR1 VAR_053968 p.Pro1122Ser Polymorphism rs7671168 - SEL1L Q9UBV2 VAR_029303 p.Asp162Gly Polymorphism rs11499034 - SEL1L Q9UBV2 VAR_053963 p.Val714Ile Polymorphism rs1051193 - SELE P16581 VAR_004191 p.Ser149Arg Polymorphism rs5361 - SELE P16581 VAR_011790 p.Cys130Trp Polymorphism rs5360 - SELE P16581 VAR_011791 p.Glu295Lys Polymorphism rs5364 - SELE P16581 VAR_011792 p.Glu421Gln Polymorphism rs5366 - SELE P16581 VAR_011793 p.His468Tyr Polymorphism rs5368 - SELE P16581 VAR_011794 p.Leu575Phe Polymorphism rs5355 - SELE P16581 VAR_014300 p.Ala21Ser Polymorphism rs3917407 - SELE P16581 VAR_014301 p.Met31Ile Polymorphism rs3917408 - SELE P16581 VAR_014302 p.Gln257Pro Polymorphism rs3917422 - SELE P16581 VAR_014303 p.Pro550Ser Polymorphism rs3917429 - SELK Q9Y6D0 VAR_053921 p.Arg50Ser Polymorphism rs11562 - SELL P14151 VAR_019134 p.Phe193Leu Polymorphism rs1131498 - SELL P14151 VAR_019135 p.Glu201Gln Polymorphism rs2229568 - SELL P14151 VAR_019136 p.Pro213Ser Polymorphism rs2229569 - SELL P14151 VAR_019137 p.Asn369Asp Polymorphism rs4987382 - SELO Q9BVL4 VAR_059952 p.Val3Ala Polymorphism rs5771225 - SELO Q9BVL4 VAR_059953 p.Thr167Asn Polymorphism rs2272846 - SELO Q9BVL4 VAR_059954 p.Glu630Lys Polymorphism rs2272852 - SELO Q9BVL4 VAR_059955 p.Glu638Lys Polymorphism rs17013238 - SELPLG Q14242 VAR_019156 p.Met62Ile Polymorphism rs2228315 - SELPLG Q14242 VAR_019157 p.Pro246Ser Polymorphism rs8179142 - SELP P16109 VAR_004192 p.Ser331Asn Polymorphism rs6131 - SELP P16109 VAR_004193 p.Asp603Asn Polymorphism rs6127 - SELP P16109 VAR_004194 p.Leu640Val Polymorphism rs6133 - SELP P16109 VAR_004195 p.Thr756Pro Polymorphism rs6136 - SELP P16109 VAR_013910 p.Val209Met Polymorphism rs6125 - SELP P16109 VAR_013911 p.Pro301Leu Polymorphism rs6124 - SELP P16109 VAR_013912 p.Met365Val Polymorphism rs6134 - SELP P16109 VAR_013913 p.Ser500Phe Polymorphism rs6130 - SELP P16109 VAR_019381 p.Gly179Arg Polymorphism rs3917718 - SELP P16109 VAR_019382 p.Cys230Phe Polymorphism rs3917869 - SELP P16109 VAR_019383 p.Thr274Ile Polymorphism rs3917724 - SELP P16109 VAR_019384 p.Ser385Leu Polymorphism rs3917742 - SELP P16109 VAR_019385 p.Glu542Lys Polymorphism rs3917769 - SELP P16109 VAR_019386 p.Ser619Ala Polymorphism rs2228672 - SELP P16109 VAR_019387 p.Gly631Val Polymorphism rs3917812 - SELP P16109 VAR_019388 p.Thr661Asn Polymorphism rs3917814 - SELP P16109 VAR_019389 p.Asn673Ser Polymorphism rs3917815 - SELRC1 Q96BR5 VAR_031401 p.Lys219Arg Polymorphism rs443751 - SELV P59797 VAR_061790 p.Lys284Arg Polymorphism rs56149652 - SEMA3A Q14563 VAR_036283 p.Ala131Thr Unclassified - A breast cancer sample SEMA3A Q14563 VAR_064749 p.Pro396Ser Unclassified - - SEMA3B Q13214 VAR_014221 p.Arg348Cys Unclassified - A non-small cell lung cancer cell line SEMA3B Q13214 VAR_014222 p.Asp397His Unclassified - A non-small cell lung cancer cell line SEMA3B Q13214 VAR_014223 p.Thr415Ile Unclassified rs2071203 A non-small cell lung cancer cell line SEMA3C Q99985 VAR_020346 p.Val337Met Polymorphism rs1527482 - SEMA3C Q99985 VAR_051928 p.Phe302Ser Polymorphism rs35070362 - SEMA3D O95025 VAR_021513 p.Lys701Gln Polymorphism rs7800072 - SEMA3F Q13275 VAR_008855 p.Leu503Met Polymorphism rs1046956 - SEMA3F Q13275 VAR_011820 p.Ala474Gly Polymorphism rs1046955 - SEMA3G Q9NS98 VAR_030292 p.Ile232Thr Polymorphism rs2276833 - SEMA3G Q9NS98 VAR_051929 p.Ser180Asn Polymorphism rs35811072 - SEMA3G Q9NS98 VAR_051930 p.Val332Ile Polymorphism rs34540591 - SEMA4A Q9H3S1 VAR_028322 p.Asp345His Disease - Cone-rod dystrophy type 10 (CORD10) [MIM:610283] SEMA4A Q9H3S1 VAR_028322 p.Asp345His Disease - Retinitis pigmentosa type 35 (RP35) [MIM:610282] SEMA4A Q9H3S1 VAR_028323 p.Phe350Cys Disease - Cone-rod dystrophy type 10 (CORD10) [MIM:610283] SEMA4A Q9H3S1 VAR_028323 p.Phe350Cys Disease - Retinitis pigmentosa type 35 (RP35) [MIM:610282] SEMA4A Q9H3S1 VAR_028324 p.Arg510Gln Polymorphism rs2075164 - SEMA4A Q9H3S1 VAR_028325 p.Arg713Gln Disease rs41265017 Retinitis pigmentosa type 35 (RP35) [MIM:610282] SEMA4B Q9NPR2 VAR_010758 p.Ser792Ala Polymorphism - - SEMA4D Q92854 VAR_030293 p.Ala72Thr Polymorphism rs13284404 - SEMA4D Q92854 VAR_057175 p.Ala327Thr Polymorphism rs11526468 - SEMA5A Q13591 VAR_030294 p.Val246Leu Polymorphism rs1806079 - SEMA5A Q13591 VAR_030295 p.Ser792Leu Polymorphism rs2290734 - SEMA5B Q9P283 VAR_037196 p.Gly42Ser Unclassified - A breast cancer sample SEMA5B Q9P283 VAR_037197 p.Ile220Thr Polymorphism rs2276774 - SEMA5B Q9P283 VAR_037198 p.Ile223Met Unclassified - A breast cancer sample SEMA5B Q9P283 VAR_037199 p.Met742Thr Polymorphism rs2276781 - SEMA5B Q9P283 VAR_037200 p.Val840Asp Polymorphism rs2276782 - SEMA5B Q9P283 VAR_037201 p.Ser996Pro Polymorphism rs35306342 - SEMA5B Q9P283 VAR_037202 p.Asp1028Gly Polymorphism rs2303983 - SEMA6A Q9H2E6 VAR_030296 p.Tyr518His Polymorphism rs34966 - SEMA6A Q9H2E6 VAR_030297 p.Arg559His Polymorphism rs17432496 - SEMA6A Q9H2E6 VAR_030298 p.Asp567Glu Polymorphism rs12516652 - SEMA6C Q9H3T2 VAR_028144 p.Thr455Pro Polymorphism rs4971007 - SEMA6D Q8NFY4 VAR_051931 p.Asn307Ser Polymorphism rs3743279 - SEMA6D Q8NFY4 VAR_051932 p.Ser478Asn Polymorphism rs532598 - SEMA6D Q8NFY4 VAR_051933 p.Ser969Thr Polymorphism rs16960074 - SEMA7A O75326 VAR_029282 p.Ser115Thr Polymorphism rs16968733 - SEMA7A O75326 VAR_038836 p.Arg207Gln Polymorphism rs55637216 - SEMA7A O75326 VAR_038837 p.Arg207Trp Polymorphism rs56367230 - SEMA7A O75326 VAR_038838 p.Arg460His Polymorphism rs56204206 - SEMA7A O75326 VAR_038839 p.Arg461Cys Polymorphism rs56001514 - SEMG1 P04279 VAR_005610 p.Ser79Thr Polymorphism rs2301366 - SEMG1 P04279 VAR_022679 p.Arg372Leu Polymorphism rs2233887 - SEMG1 P04279 VAR_053650 p.Glu58Gly Polymorphism rs11559137 - SEMG1 P04279 VAR_053651 p.His108Arg Polymorphism rs2233884 - SEMG2 Q02383 VAR_024630 p.Ser274Asn Polymorphism rs2233901 - SEMG2 Q02383 VAR_024631 p.Gly368Arg Polymorphism rs2071650 - SEMG2 Q02383 VAR_034489 p.Gln43Lys Polymorphism rs2233896 - SEMG2 Q02383 VAR_034490 p.Thr57Ala Polymorphism rs2233897 - SEMG2 Q02383 VAR_034491 p.His279Tyr Polymorphism rs2233903 - SENP1 Q9P0U3 VAR_029648 p.Ile193Val Polymorphism rs17854369 - SENP1 Q9P0U3 VAR_029649 p.Asp350Gly Polymorphism rs17854368 - SENP1 Q9P0U3 VAR_047547 p.Ala280Thr Polymorphism rs35130318 - SENP2 Q9HC62 VAR_029650 p.Thr301Lys Polymorphism rs6762208 - SENP3 Q9H4L4 VAR_051544 p.Trp515Arg Polymorphism rs9972914 - SENP5 Q96HI0 VAR_057045 p.Asn83Ser Polymorphism rs35434690 - SENP5 Q96HI0 VAR_061732 p.Leu340Phe Polymorphism rs34251880 - SENP6 Q9GZR1 VAR_016096 p.Tyr1106Cys Polymorphism rs9250 - SENP6 Q9GZR1 VAR_029653 p.Thr121Met Polymorphism rs17414086 - SENP6 Q9GZR1 VAR_029654 p.Glu637Lys Polymorphism rs1061347 - SENP6 Q9GZR1 VAR_029655 p.Arg717Pro Polymorphism rs12195603 - SENP6 Q9GZR1 VAR_051545 p.Ala820Val Polymorphism rs34045941 - SENP7 Q9BQF6 VAR_029651 p.Lys79Gln Polymorphism rs6809436 - SENP7 Q9BQF6 VAR_029652 p.Gln612His Polymorphism rs2433031 - SENP8 Q96LD8 VAR_023705 p.Thr207Ala Polymorphism rs930871 - SEPHS2 Q99611 VAR_052345 p.Pro269Ala Polymorphism rs1804600 - SEPN1 Q9NZV5 VAR_019635 p.Gly273Glu Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPN1 Q9NZV5 VAR_019636 p.His293Arg Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPN1 Q9NZV5 VAR_019637 p.Gly315Ser Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPN1 Q9NZV5 VAR_019638 p.Asn340Ile Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPN1 Q9NZV5 VAR_019639 p.Trp453Ser Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPN1 Q9NZV5 VAR_019640 p.Sec462Gly Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPN1 Q9NZV5 VAR_019641 p.Arg466Gln Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPN1 Q9NZV5 VAR_038845 p.Thr137Ala Polymorphism rs35019869 - SEPN1 Q9NZV5 VAR_038846 p.Cys142Tyr Polymorphism rs7349185 - SEPN1 Q9NZV5 VAR_038847 p.Asn502Lys Polymorphism rs2294228 - SEPN1 Q9NZV5 VAR_058462 p.Gly463Val Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPN1 Q9NZV5 VAR_058463 p.Arg469Gln Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPN1 Q9NZV5 VAR_058464 p.Arg469Trp Disease - Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] SEPP1 P49908 VAR_023256 p.Pro112Ser Polymorphism - - SEPP1 P49908 VAR_023257 p.Ala234Thr Polymorphism rs3877899 - SEPP1 P49908 VAR_023258 p.Arg278Gln Polymorphism - - SEPP1 P49908 VAR_023259 p.Ser314Pro Polymorphism - - SEPP1 P49908 VAR_023260 p.Arg368Cys Polymorphism - - SEPSECS Q9HD40 VAR_065585 p.Ala239Thr Disease - Pontocerebellar hypoplasia type 2D (PCH2D) [MIM:613811] SEPSECS Q9HD40 VAR_065586 p.Tyr334Cys Disease - Pontocerebellar hypoplasia type 2D (PCH2D) [MIM:613811] SEPT10 Q9P0V9 VAR_051936 p.Leu189Pro Polymorphism rs3829701 - SEPT12 Q8IYM1 VAR_057176 p.Gln213Arg Polymorphism rs6500633 - SEPT1 Q8WYJ6 VAR_051934 p.Gly80Val Polymorphism rs34518080 - SEPT4 O43236 VAR_051935 p.Glu311Val Polymorphism rs17741424 - SEPT9 Q9UHD8 VAR_020667 p.Arg76Cys Polymorphism - - SEPT9 Q9UHD8 VAR_020668 p.Pro145Leu Polymorphism rs34587622 - SEPT9 Q9UHD8 VAR_020669 p.Met576Val Polymorphism rs2627223 - SEPT9 Q9UHD8 VAR_033101 p.Arg106Trp Disease - Hereditary neuralgic amyotrophy (HNA) [MIM:162100] SEPT9 Q9UHD8 VAR_033102 p.Ser111Phe Disease - Hereditary neuralgic amyotrophy (HNA) [MIM:162100] SERAC1 Q96JX3 VAR_030342 p.Ser543Thr Polymorphism rs17849527 - SERF2 P84101 VAR_051937 p.Asp40Tyr Polymorphism rs11269 - SERGEF Q9UGK8 VAR_017156 p.Lys429Glu Polymorphism rs1528 - SERGEF Q9UGK8 VAR_017157 p.Gly457Glu Polymorphism rs10788 - SERHL2 Q9H4I8 VAR_021962 p.Ser46Asn Polymorphism rs926333 - SERHL2 Q9H4I8 VAR_051334 p.Glu3Lys Polymorphism rs3213549 - SERHL2 Q9H4I8 VAR_051335 p.Cys306Arg Polymorphism rs137055 - SERHL Q9NQF3 VAR_056985 p.Glu3Lys Polymorphism rs3213549 - SERINC1 Q9NRX5 VAR_052275 p.Leu199Val Polymorphism rs13210569 - SERINC1 Q9NRX5 VAR_052276 p.Phe216Val Polymorphism rs13210446 - SERINC1 Q9NRX5 VAR_052277 p.Ser225Gly Polymorphism rs17260829 - SERINC2 Q96SA4 VAR_061838 p.Gly303Ser Polymorphism rs34728687 - SERINC3 Q13530 VAR_014315 p.Thr437Ala Polymorphism - - SERPINA10 Q9UK55 VAR_020325 p.Lys46Arg Polymorphism rs941590 - SERPINA10 Q9UK55 VAR_020326 p.Ser61Gly Polymorphism rs941591 - SERPINA10 Q9UK55 VAR_020327 p.Thr161Ser Polymorphism rs2232700 - SERPINA10 Q9UK55 VAR_038833 p.Gly139Arg Polymorphism rs56137907 - SERPINA10 Q9UK55 VAR_038834 p.Gly271Ser Polymorphism rs2232708 - SERPINA10 Q9UK55 VAR_038835 p.Gln384Pro Polymorphism - - SERPINA10 Q9UK55 VAR_051940 p.Leu158Gln Polymorphism rs2232699 - SERPINA10 Q9UK55 VAR_051941 p.Arg196His Polymorphism rs2232701 - SERPINA10 Q9UK55 VAR_051942 p.Gln384Arg Polymorphism rs2232710 - SERPINA11 Q86U17 VAR_034511 p.Thr406Ser Polymorphism rs17752285 - SERPINA11 Q86U17 VAR_061791 p.Glu230Ala Polymorphism rs1885137 - SERPINA12 Q8IW75 VAR_051943 p.Gln142Lys Polymorphism rs17090972 - SERPINA12 Q8IW75 VAR_051944 p.Ile394Val Polymorphism rs34519784 - SERPINA1 P01009 VAR_006978 p.Ser4Leu Unclassified - - SERPINA1 P01009 VAR_006979 p.Asp26Ala Unclassified - - SERPINA1 P01009 VAR_006980 p.Ala58Thr Unclassified - - SERPINA1 P01009 VAR_006981 p.Arg63Cys Polymorphism rs28931570 - SERPINA1 P01009 VAR_006982 p.Leu65Pro Polymorphism rs28931569 - SERPINA1 P01009 VAR_006983 p.Ser69Phe Unclassified - - SERPINA1 P01009 VAR_006985 p.Ser77Phe Polymorphism rs55819880 - SERPINA1 P01009 VAR_006986 p.Ala84Thr Unclassified - - SERPINA1 P01009 VAR_006987 p.Gly91Glu Polymorphism rs28931568 - SERPINA1 P01009 VAR_006988 p.Thr92Ile Unclassified - - SERPINA1 P01009 VAR_006989 p.Pro112Thr Unclassified - - SERPINA1 P01009 VAR_006990 p.Ile116Asn Polymorphism rs28931572 - SERPINA1 P01009 VAR_006991 p.Arg125His Polymorphism rs709932 - SERPINA1 P01009 VAR_006992 p.Gly139Ser Polymorphism rs11558261 - SERPINA1 P01009 VAR_006993 p.Gly172Arg Unclassified - - SERPINA1 P01009 VAR_006994 p.Gly172Trp Unclassified - - SERPINA1 P01009 VAR_006995 p.Gln180Glu Unclassified - - SERPINA1 P01009 VAR_006996 p.Glu228Lys Unclassified - - SERPINA1 P01009 VAR_006997 p.Val237Ala Polymorphism rs6647 - SERPINA1 P01009 VAR_006998 p.Arg247Cys Polymorphism rs28929470 - SERPINA1 P01009 VAR_006999 p.Asp280Val Polymorphism rs28929472 - SERPINA1 P01009 VAR_007000 p.Glu288Val Polymorphism rs17580 - SERPINA1 P01009 VAR_007001 p.Ser354Phe Unclassified - - SERPINA1 P01009 VAR_007002 p.Ala360Thr Polymorphism rs1802959 - SERPINA1 P01009 VAR_007003 p.Asp365Asn Unclassified - - SERPINA1 P01009 VAR_007004 p.Glu366Lys Polymorphism rs28929474 - SERPINA1 P01009 VAR_007005 p.Met382Arg Unclassified - - SERPINA1 P01009 VAR_007006 p.Pro386His Unclassified - - SERPINA1 P01009 VAR_007007 p.Pro386Thr Unclassified - - SERPINA1 P01009 VAR_007008 p.Glu387Lys Unclassified - - SERPINA1 P01009 VAR_007009 p.Pro393Leu Unclassified - - SERPINA1 P01009 VAR_007010 p.Glu400Asp Polymorphism rs1303 - SERPINA1 P01009 VAR_007011 p.Pro415His Unclassified - - SERPINA1 P01009 VAR_011620 p.Thr109Met Unclassified - - SERPINA1 P01009 VAR_051938 p.Thr37Ala Polymorphism rs11558262 - SERPINA3 P01011 VAR_006973 p.Ala9Thr Polymorphism rs4934 - SERPINA3 P01011 VAR_006974 p.Leu78Pro Polymorphism rs1800463 - SERPINA3 P01011 VAR_006975 p.Ala167Gly Polymorphism - - SERPINA3 P01011 VAR_006976 p.Pro252Ala Polymorphism rs17473 - SERPINA3 P01011 VAR_006977 p.Met401Val Unclassified - - SERPINA3 P01011 VAR_011742 p.Asp407Gly Polymorphism rs10956 - SERPINA3 P01011 VAR_037902 p.Lys267Arg Polymorphism rs17853314 - SERPINA5 P05154 VAR_007100 p.Ala55Val Polymorphism rs6118 - SERPINA5 P05154 VAR_007101 p.Lys105Glu Polymorphism rs6119 - SERPINA5 P05154 VAR_013080 p.Ser44Gly Polymorphism rs2069975 - SERPINA5 P05154 VAR_013081 p.Ser64Asn Polymorphism rs6115 - SERPINA5 P05154 VAR_013082 p.Gly94Val Polymorphism rs2069976 - SERPINA5 P05154 VAR_013083 p.Leu115Pro Polymorphism rs2069999 - SERPINA5 P05154 VAR_013084 p.Gly217Arg Polymorphism rs6114 - SERPINA5 P05154 VAR_013900 p.Pro121Ala Polymorphism rs6120 - SERPINA6 P08185 VAR_007111 p.Leu115His Disease rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] SERPINA6 P08185 VAR_016223 p.Asp389Asn Disease rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] SERPINA6 P08185 VAR_024350 p.Ser246Ala Polymorphism rs2228541 - SERPINA7 P05543 VAR_007102 p.Ser43Thr Disease - Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] SERPINA7 P05543 VAR_007103 p.Ile116Asn Disease rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] SERPINA7 P05543 VAR_007104 p.Ala133Pro Disease rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] SERPINA7 P05543 VAR_007105 p.Asp191Asn Polymorphism rs1050086 - SERPINA7 P05543 VAR_007106 p.Ala211Thr Polymorphism rs2234036 - SERPINA7 P05543 VAR_007107 p.Leu247Pro Disease rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] SERPINA7 P05543 VAR_007108 p.Leu303Phe Polymorphism rs1804495 - SERPINA7 P05543 VAR_007109 p.His351Tyr Disease - Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] SERPINA7 P05543 VAR_007110 p.Pro383Leu Disease - Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] SERPINA9 Q86WD7 VAR_047344 p.Ala24Val Polymorphism rs4905204 - SERPINA9 Q86WD7 VAR_047345 p.Pro218Leu Polymorphism rs17090921 - SERPINA9 Q86WD7 VAR_047346 p.His236Gln Polymorphism rs28583900 - SERPINA9 Q86WD7 VAR_047347 p.Arg292Ile Polymorphism rs28618118 - SERPINA9 Q86WD7 VAR_047348 p.Val330Ala Polymorphism rs11628722 - SERPINB10 P48595 VAR_022116 p.Arg246Cys Polymorphism rs963075 - SERPINB10 P48595 VAR_024353 p.Ile41Met Polymorphism rs8097425 - SERPINB10 P48595 VAR_024354 p.Ile99Thr Polymorphism rs724558 - SERPINB10 P48595 VAR_024355 p.Pro140Ser Polymorphism rs9967382 - SERPINB10 P48595 VAR_051949 p.Ser3Ala Polymorphism rs17072097 - SERPINB10 P48595 VAR_051950 p.Gly135Asp Polymorphism rs17072146 - SERPINB10 P48595 VAR_051951 p.Asp360Asn Polymorphism rs35453062 - SERPINB11 Q96P15 VAR_012472 p.Met148Thr Polymorphism rs17071550 - SERPINB11 Q96P15 VAR_012473 p.Ile181Thr Polymorphism - - SERPINB11 Q96P15 VAR_057177 p.Ile354Thr Polymorphism rs34811964 - SERPINB11 Q96P15 VAR_060331 p.Ala51Glu Polymorphism rs1395268 - SERPINB11 Q96P15 VAR_060332 p.Arg188Trp Polymorphism rs1506419 - SERPINB11 Q96P15 VAR_060333 p.Ile293Thr Polymorphism rs1395266 - SERPINB11 Q96P15 VAR_060334 p.Pro303Ser Polymorphism rs1395267 - SERPINB11 Q96P15 VAR_064572 p.Ile181Ala Polymorphism - - SERPINB12 Q96P63 VAR_034513 p.Lys227Glu Polymorphism rs35582068 - SERPINB12 Q96P63 VAR_034514 p.Asn289Thr Polymorphism rs35352345 - SERPINB12 Q96P63 VAR_051952 p.Asn338Ser Polymorphism rs11664907 - SERPINB13 Q9UIV8 VAR_024356 p.Gly293Ser Polymorphism rs1020694 - SERPINB1 P30740 VAR_051945 p.Ala82Val Polymorphism rs34825616 - SERPINB2 P05120 VAR_011743 p.Asn120Asp Polymorphism rs6098 - SERPINB2 P05120 VAR_011744 p.Asn404Lys Polymorphism rs6103 - SERPINB2 P05120 VAR_011745 p.Ser413Cys Polymorphism rs6104 - SERPINB2 P05120 VAR_014173 p.Arg229His Polymorphism rs6100 - SERPINB2 P05120 VAR_051946 p.Gly374Ala Polymorphism rs34066931 - SERPINB3 P29508 VAR_024351 p.Gly351Ala Polymorphism rs3180227 - SERPINB3 P29508 VAR_024352 p.Thr357Ala Polymorphism rs1065205 - SERPINB5 P36952 VAR_022115 p.Ile319Val Polymorphism rs1455555 - SERPINB5 P36952 VAR_055223 p.Ser176Pro Polymorphism rs2289519 - SERPINB5 P36952 VAR_055224 p.Val187Leu Polymorphism rs2289520 - SERPINB6 P35237 VAR_037295 p.Met90Val Polymorphism rs2295769 - SERPINB6 P35237 VAR_037296 p.Gly153Ser Polymorphism rs2295766 - SERPINB7 O75635 VAR_034512 p.Arg266Gln Polymorphism rs17782413 - SERPINB8 P50452 VAR_047110 p.Arg68Gln Polymorphism rs1944270 - SERPINB8 P50452 VAR_047111 p.Lys158Asn Polymorphism rs1648493 - SERPINB8 P50452 VAR_051947 p.Thr304Ala Polymorphism rs3169983 - SERPINB8 P50452 VAR_051948 p.His359Arg Polymorphism rs3826616 - SERPINC1 P01008 VAR_007032 p.Val30Glu Polymorphism rs2227624 - SERPINC1 P01008 VAR_007033 p.Ile39Asn Disease rs28929468 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007034 p.Met52Thr Unclassified - - SERPINC1 P01008 VAR_007035 p.Arg56Cys Disease rs28929469 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007036 p.Pro73Leu Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007037 p.Arg79Cys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007038 p.Arg79His Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007039 p.Arg79Ser Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007041 p.Arg89Cys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007042 p.Phe90Leu Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007044 p.Pro112Thr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007045 p.Leu131Phe Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007046 p.Leu131Val Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007047 p.Gln133Lys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007049 p.Ser148Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007050 p.Gln150Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007051 p.His152Tyr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007053 p.Leu158Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007054 p.Arg161Gln Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007055 p.Tyr190Cys Polymorphism - - SERPINC1 P01008 VAR_007056 p.Tyr198Cys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007057 p.Ser214Tyr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007058 p.Asn219Lys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007059 p.Asn219Asp Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007060 p.Glu269Lys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007062 p.Met283Ile Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007063 p.Leu302Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007064 p.Ile316Asn Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007065 p.Glu334Lys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007067 p.Ser381Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007068 p.Arg391Gln Polymorphism - - SERPINC1 P01008 VAR_007069 p.Ala414Thr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007070 p.Ala416Pro Disease rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007071 p.Ala416Ser Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007072 p.Ala419Val Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007073 p.Gly424Asp Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007074 p.Arg425His Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007075 p.Arg425Cys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007076 p.Arg425Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007077 p.Ser426Leu Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007078 p.Phe434Cys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007079 p.Phe434Ser Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007080 p.Phe434Leu Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007081 p.Ala436Thr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007082 p.Asn437Lys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007083 p.Arg438Met Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007084 p.Pro439Leu Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007085 p.Pro439Thr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007086 p.Ile453Thr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007087 p.Gly456Arg Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007088 p.Arg457Thr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007090 p.Ala459Asp Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007091 p.Pro461Leu Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_007092 p.Cys462Phe Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_009258 p.Arg438Gly Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_012316 p.Tyr95Ser Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_012748 p.Leu23Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_012750 p.Asn167Thr Polymorphism - - SERPINC1 P01008 VAR_013085 p.Thr147Ala Polymorphism rs2227606 - SERPINC1 P01008 VAR_027450 p.Tyr17Ser Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027451 p.Cys32Arg Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027452 p.Tyr95Cys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027453 p.Leu98Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027454 p.Met121Lys Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027455 p.Cys127Arg Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027456 p.Lys146Glu Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027457 p.Cys160Tyr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027458 p.Leu178His Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027459 p.Phe179Leu Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027460 p.Tyr198His Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027461 p.Ser214Phe Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027463 p.Ser223Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027464 p.Thr243Ile Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027465 p.Ile251Thr Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027466 p.Trp257Arg Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027467 p.Phe261Leu Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027468 p.Met283Val Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027469 p.Ser323Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027470 p.Ser397Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027471 p.Asp398His Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027472 p.Ser412Arg Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPINC1 P01008 VAR_027473 p.Leu441Pro Disease - Antithrombin III deficiency (AT3D) [MIM:613118] SERPIND1 P05546 VAR_007112 p.Arg208His Disease rs5907 Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] SERPIND1 P05546 VAR_011746 p.Ala7Thr Polymorphism rs5905 - SERPIND1 P05546 VAR_011747 p.His60Pro Polymorphism rs165867 - SERPIND1 P05546 VAR_011748 p.Lys237Arg Polymorphism rs1042435 - SERPIND1 P05546 VAR_011749 p.Thr442Met Polymorphism rs5904 - SERPIND1 P05546 VAR_051953 p.Ser87Asn Polymorphism rs34324685 - SERPIND1 P05546 VAR_051954 p.Leu129Val Polymorphism rs11542069 - SERPIND1 P05546 VAR_054977 p.Glu447Lys Disease - Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] SERPIND1 P05546 VAR_054978 p.Pro462Leu Disease - Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] SERPINE1 P05121 VAR_007099 p.Ala15Thr Polymorphism rs6092 - SERPINE1 P05121 VAR_011750 p.Val17Ile Polymorphism rs6090 - SERPINE1 P05121 VAR_013086 p.His25Pro Polymorphism rs2227647 - SERPINE1 P05121 VAR_013087 p.Arg209His Polymorphism rs2227669 - SERPINE1 P05121 VAR_013088 p.Thr255Asn Polymorphism rs2227685 - SERPINE2 P07093 VAR_036027 p.Lys204Asn Unclassified - A breast cancer sample SERPINE2 P07093 VAR_051955 p.Ile51Met Polymorphism rs3795875 - SERPINE3 A8MV23 VAR_044021 p.Asp143Asn Polymorphism rs17790811 - SERPINF1 P36955 VAR_009126 p.Thr72Met Polymorphism rs1136287 - SERPINF1 P36955 VAR_025500 p.Pro132Arg Polymorphism rs1804145 - SERPINF2 P08697 VAR_013252 p.Ala27Val Polymorphism - - SERPINF2 P08697 VAR_013253 p.Arg33Trp Polymorphism rs2070863 - SERPINF2 P08697 VAR_013255 p.Val411Met Disease - Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850] SERPINF2 P08697 VAR_013256 p.Arg434Lys Polymorphism rs1057335 - SERPINF2 P08697 VAR_047951 p.Ala2Val Polymorphism rs2070862 - SERPINF2 P08697 VAR_051956 p.Ala98Gly Polymorphism rs36021516 - SERPINF2 P08697 VAR_061792 p.Pro451Ser Polymorphism rs57360598 - SERPING1 P05155 VAR_007013 p.Gly429Arg Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007014 p.Val454Glu Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007015 p.Ala456Glu Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007016 p.Ala458Thr Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007017 p.Ala458Val Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007018 p.Ala465Val Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007019 p.Arg466Cys Disease rs28940870 Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007020 p.Arg466His Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007021 p.Arg466Leu Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007022 p.Arg466Ser Disease rs28940870 Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007023 p.Thr467Pro Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007024 p.Val473Met Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007025 p.Gln474Glu Polymorphism - - SERPING1 P05155 VAR_007026 p.Phe477Ser Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007027 p.Val480Met Polymorphism rs4926 - SERPING1 P05155 VAR_007028 p.Leu481Pro Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007029 p.Leu481Arg Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007030 p.Pro489Arg Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_007031 p.Pro498Ser Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_011751 p.Thr308Ser Polymorphism rs1803212 - SERPING1 P05155 VAR_027374 p.Asp39Glu Polymorphism rs11229062 - SERPING1 P05155 VAR_027375 p.Val56Ala Polymorphism rs11546660 - SERPING1 P05155 VAR_027376 p.Gly345Arg Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_027379 p.Cys130Tyr Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_027380 p.Thr394Pro Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_027381 p.Asp408Val Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_027382 p.Val473Glu Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_027383 p.Gly493Glu Disease - Hereditary angioedema (HAE) [MIM:106100] SERPING1 P05155 VAR_027384 p.Pro498Arg Disease - Hereditary angioedema (HAE) [MIM:106100] SERPINH1 P50454 VAR_028445 p.Ala41Pro Polymorphism rs7105528 - SERPINH1 P50454 VAR_063602 p.Leu78Pro Disease - Osteogenesis imperfecta type 10 (OI10) [MIM:613848] SERPINI1 Q99574 VAR_008520 p.Ser49Pro Disease - Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218] SERPINI1 Q99574 VAR_008521 p.Ser52Arg Disease - Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218] SERPINI2 O75830 VAR_024357 p.Glu148Gly Polymorphism rs9841174 - SERPINI2 O75830 VAR_051957 p.Leu6Val Polymorphism rs17246389 - SERTAD1 Q9UHV2 VAR_015881 p.Thr31Ala Polymorphism rs268687 - SERTAD4-A Q5TG53 VAR_046125 p.Arg91Gln Polymorphism rs624270 - SESN1 Q9Y6P5 VAR_014210 p.Leu44Ile Polymorphism rs2273668 - SESN2 P58004 VAR_022101 p.Thr320Ala Polymorphism rs2274848 - SESN3 P58005 VAR_051958 p.Arg71Cys Polymorphism rs10160385 - SESN3 P58005 VAR_051959 p.Ile227Thr Polymorphism rs11021069 - SESTD1 Q86VW0 VAR_036963 p.Tyr49Phe Polymorphism rs17854501 - SESTD1 Q86VW0 VAR_051919 p.Val563Ala Polymorphism rs1047994 - SETBP1 Q9Y6X0 VAR_020317 p.Pro1130Thr Polymorphism rs1064204 - SETBP1 Q9Y6X0 VAR_024347 p.Val231Leu Polymorphism rs11082414 - SETBP1 Q9Y6X0 VAR_035987 p.Arg1162Trp Unclassified - A colorectal cancer sample SETBP1 Q9Y6X0 VAR_054646 p.Val1101Ile Polymorphism rs3744825 - SETBP1 Q9Y6X0 VAR_063806 p.Asp868Ala Disease - Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETBP1 Q9Y6X0 VAR_063807 p.Asp868Asn Disease - Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETBP1 Q9Y6X0 VAR_063808 p.Gly870Asp Disease - Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETBP1 Q9Y6X0 VAR_063809 p.Gly870Ser Disease - Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETBP1 Q9Y6X0 VAR_063810 p.Ile871Thr Disease - Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] SETD1A O15047 VAR_059318 p.Asp639Asn Polymorphism rs897985 - SETD2 Q9BYW2 VAR_027839 p.Val768Leu Polymorphism rs9311404 - SETD2 Q9BYW2 VAR_027840 p.Ala1868Asp Polymorphism rs11721074 - SETD2 Q9BYW2 VAR_027841 p.Pro1962Leu Polymorphism rs4082155 - SETD2 Q9BYW2 VAR_061216 p.Glu902Gln Polymorphism rs58906143 - SETD3 Q86TU7 VAR_028830 p.Asn278Asp Polymorphism rs1740231 - SETD4 Q9NVD3 VAR_021948 p.Ile387Val Polymorphism rs2835239 - SETD4 Q9NVD3 VAR_035988 p.Glu420Gly Unclassified - A colorectal cancer sample SETD5 Q9C0A6 VAR_051336 p.Arg77His Polymorphism rs41387348 - SETD5 Q9C0A6 VAR_051337 p.Arg119Ile Polymorphism rs11720526 - SETD5 Q9C0A6 VAR_051338 p.Met1137Val Polymorphism rs13327456 - SETD5 Q9C0A6 VAR_061705 p.Thr1308Ile Polymorphism rs11542009 - SETD6 Q8TBK2 VAR_064590 p.Arg185Ser Polymorphism rs17852020 - SETD6 Q8TBK2 VAR_064591 p.Arg206Gly Polymorphism rs17852021 - SETD6 Q8TBK2 VAR_064592 p.Asp340Asn Polymorphism rs11865588 - SETD6 Q8TBK2 VAR_064593 p.Thr426Ala Polymorphism rs34965375 - SETD6 Q8TBK2 VAR_064594 p.Ala445Val Polymorphism rs36085499 - SETD9 Q8NE22 VAR_034875 p.Ser76Thr Polymorphism rs2257505 - SETD9 Q8NE22 VAR_034876 p.Lys209Glu Polymorphism rs40497 - SETDB1 Q15047 VAR_014284 p.Asn236Ser Polymorphism rs2271075 - SETDB1 Q15047 VAR_014285 p.Ala824Pro Polymorphism rs2814054 - SETDB1 Q15047 VAR_014286 p.Ala824Gly Polymorphism rs2691551 - SETDB1 Q15047 VAR_031281 p.Pro506Ser Polymorphism rs17852587 - SETDB2 Q96T68 VAR_016976 p.Val473Met Polymorphism rs2057413 - SETDB2 Q96T68 VAR_031282 p.Glu117Gly Polymorphism rs7998427 - SETX Q7Z333 VAR_018776 p.Thr3Ile Disease rs28941475 Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433] SETX Q7Z333 VAR_018777 p.Trp305Cys Disease - Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_018778 p.Arg332Trp Disease rs29001665 Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_018779 p.Leu389Ser Disease rs29001584 Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433] SETX Q7Z333 VAR_018780 p.Pro413Leu Disease - Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_018781 p.Ala660Gly Polymorphism rs882709 - SETX Q7Z333 VAR_018782 p.Pro1061Leu Polymorphism rs12352982 - SETX Q7Z333 VAR_018783 p.Phe1152Cys Polymorphism rs3739922 - SETX Q7Z333 VAR_018784 p.Asp1192Glu Polymorphism rs1185193 - SETX Q7Z333 VAR_018785 p.Gly1252Arg Polymorphism rs1183768 - SETX Q7Z333 VAR_018786 p.Pro1331Leu Polymorphism rs11243731 - SETX Q7Z333 VAR_018787 p.Ile1386Val Polymorphism rs543573 - SETX Q7Z333 VAR_018788 p.Phe1756Ser Disease - Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_018789 p.Thr1855Ala Polymorphism rs2296871 - SETX Q7Z333 VAR_018790 p.Arg2136His Disease - Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433] SETX Q7Z333 VAR_018791 p.Pro2213Leu Disease rs28940290 Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_018792 p.Ile2587Val Polymorphism rs1056899 - SETX Q7Z333 VAR_018793 p.Ser2612Gly Polymorphism rs3739927 - SETX Q7Z333 VAR_036646 p.Met274Ile Disease - Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_036647 p.Asn603Asp Disease - Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_036648 p.Gln653Lys Disease - Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_036649 p.Arg1294Cys Disease - Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_036650 p.Pro2368Arg Disease - Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] SETX Q7Z333 VAR_056208 p.Lys1221Asn Polymorphism rs12344006 - SETX Q7Z333 VAR_059458 p.Thr1855Pro Polymorphism rs2296871 - SEZ6L2 Q6UXD5 VAR_065205 p.Arg74Pro Polymorphism rs11649499 - SEZ6L Q9BYH1 VAR_020330 p.Met430Ile Polymorphism rs663048 - SEZ6L Q9BYH1 VAR_024348 p.Trp185Leu Polymorphism rs137203 - SEZ6L Q9BYH1 VAR_043338 p.Pro52Leu Polymorphism rs6004989 - SEZ6L Q9BYH1 VAR_043339 p.Gln671His Polymorphism rs586542 - SEZ6 Q53EL9 VAR_044048 p.Val300Met Polymorphism - - SEZ6 Q53EL9 VAR_044049 p.Ala330Val Polymorphism - - SEZ6 Q53EL9 VAR_044050 p.Thr546Ala Polymorphism rs1976165 - SEZ6 Q53EL9 VAR_044051 p.Val592Ala Polymorphism - - SEZ6 Q53EL9 VAR_044052 p.Tyr736Asn Polymorphism - - SEZ6 Q53EL9 VAR_044053 p.Leu756Val Polymorphism - - SEZ6 Q53EL9 VAR_044054 p.Met806Thr Polymorphism rs12941884 - SF1 Q15637 VAR_017196 p.Ser357Thr Polymorphism - - SF3A1 Q15459 VAR_036290 p.Arg511Trp Unclassified - A colorectal cancer sample SF3B3 Q15393 VAR_053647 p.Gly908Arg Polymorphism rs11551673 - SFI1 A8K8P3 VAR_043439 p.His13Leu Polymorphism rs5749290 - SFI1 A8K8P3 VAR_043440 p.Arg72His Polymorphism rs16989698 - SFI1 A8K8P3 VAR_043441 p.Gln167His Polymorphism rs7511430 - SFI1 A8K8P3 VAR_043442 p.Tyr322His Polymorphism rs5753700 - SFI1 A8K8P3 VAR_043443 p.Trp330Arg Polymorphism rs16989291 - SFI1 A8K8P3 VAR_043444 p.Arg549Gln Polymorphism rs2006771 - SFI1 A8K8P3 VAR_043445 p.Leu1087Pro Polymorphism rs12171042 - SFI1 A8K8P3 VAR_062234 p.Arg760His Polymorphism rs9621295 - SFMBT2 Q5VUG0 VAR_051362 p.Pro675Arg Polymorphism rs3740212 - SFN P31947 VAR_048095 p.Met155Ile Polymorphism rs11542705 - SFR1 Q86XK3 VAR_023098 p.Asp19Gly Polymorphism rs10786783 - SFRP2 Q96HF1 VAR_051963 p.Ala45Val Polymorphism rs4643790 - SFRP4 Q6FHJ7 VAR_051964 p.Pro320Thr Polymorphism rs1802073 - SFRP4 Q6FHJ7 VAR_051965 p.Arg340Lys Polymorphism rs1802074 - SFRP5 Q5T4F7 VAR_021412 p.Gly7Ala Polymorphism rs11815012 - SFSWAP Q12872 VAR_021789 p.Leu421Pro Polymorphism rs1982528 - SFSWAP Q12872 VAR_046442 p.Leu52Gln Polymorphism rs1051207 - SFSWAP Q12872 VAR_046443 p.Leu122Phe Polymorphism rs1051314 - SFSWAP Q12872 VAR_046444 p.Leu136Phe Polymorphism rs1131564 - SFSWAP Q12872 VAR_057248 p.Gly512Ser Polymorphism rs34541796 - SFSWAP Q12872 VAR_057249 p.Glu538Gly Polymorphism rs34744641 - SFSWAP Q12872 VAR_057250 p.Ala887Glu Polymorphism rs34729193 - SFT2D1 Q8WV19 VAR_034492 p.Ile109Val Polymorphism rs11551053 - SFT2D3 Q587I9 VAR_026558 p.Arg38Gly Polymorphism rs10206957 - SFTA2 Q6UW10 VAR_034423 p.Asn37Ser Polymorphism rs3131787 - SFTPA1 Q8IWL2 VAR_004184 p.Asn9Thr Polymorphism rs1059046 - SFTPA1 Q8IWL2 VAR_012231 p.Leu50Val Polymorphism rs1136450 - SFTPA1 Q8IWL2 VAR_012232 p.Arg219Trp Polymorphism rs4253527 - SFTPA1 Q8IWL2 VAR_012233 p.Gln223Lys Polymorphism rs1965708 - SFTPA1 Q8IWL2 VAR_021292 p.Val19Ala Polymorphism rs1059047 - SFTPA1 Q8IWL2 VAR_063517 p.Pro5Leu Polymorphism - - SFTPA2 Q8IWL1 VAR_021293 p.Asn9Thr Polymorphism rs1059046 - SFTPA2 Q8IWL1 VAR_021294 p.Val50Leu Polymorphism - - SFTPA2 Q8IWL1 VAR_021295 p.Ala91Pro Polymorphism rs17886395 - SFTPA2 Q8IWL1 VAR_021296 p.Gln223Lys Polymorphism rs1965708 - SFTPA2 Q8IWL1 VAR_063518 p.Leu12Trp Polymorphism - - SFTPA2 Q8IWL1 VAR_063519 p.Phe198Ser Disease - Pulmonary fibrosis idiopathic (IPF) [MIM:178500] SFTPA2 Q8IWL1 VAR_063520 p.Gly231Val Disease - Pulmonary fibrosis idiopathic (IPF) [MIM:178500] SFTPB P07988 VAR_006948 p.Thr131Ile Polymorphism rs1130866 - SFTPB P07988 VAR_006949 p.Ala228Arg Unclassified - - SFTPB P07988 VAR_006950 p.Ala228Ile Unclassified - - SFTPB P07988 VAR_013099 p.Leu176Phe Polymorphism rs3024801 - SFTPB P07988 VAR_013100 p.Arg272His Polymorphism rs3024809 - SFTPB P07988 VAR_036856 p.Arg236Cys Disease - Pulmonary surfactant metabolism dysfunction type 1 (SMDP1) [MIM:265120] SFTPC P11686 VAR_007453 p.Asn138Thr Polymorphism rs4715 - SFTPC P11686 VAR_016175 p.Asn186Ser Polymorphism rs1124 - SFTPC P11686 VAR_026753 p.Ile73Thr Disease - Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913] SFTPC P11686 VAR_026754 p.Ala116Asp Disease - Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913] SFTPC P11686 VAR_026755 p.Arg167Gln Disease rs34957318 Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913] SFTPC P11686 VAR_026756 p.Leu188Gln Disease - Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913] SFTPC P11686 VAR_036855 p.Glu66Lys Disease - Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913] SFTPD P35247 VAR_020937 p.Met31Thr Polymorphism rs721917 - SFTPD P35247 VAR_020938 p.Leu123Val Polymorphism - - SFTPD P35247 VAR_020939 p.Thr180Ala Polymorphism rs2243639 - SFTPD P35247 VAR_020940 p.Ser290Thr Polymorphism rs3088308 - SFTPD P35247 VAR_020941 p.Glu309Lys Polymorphism rs4469829 - SFXN1 Q9H9B4 VAR_051966 p.Asn26Ser Polymorphism rs17065105 - SFXN1 Q9H9B4 VAR_051967 p.Pro266Ser Polymorphism rs34907038 - SGCA Q16586 VAR_010387 p.Arg77Cys Disease rs28933693 Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010388 p.Arg98His Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010389 p.Val175Ala Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010390 p.Arg284Cys Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010402 p.Pro30Leu Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010403 p.Leu31Pro Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010404 p.Arg34Cys Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010405 p.Arg34His Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010406 p.Tyr62His Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010407 p.Gly68Glu Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010408 p.Arg74Trp Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010409 p.Leu89Pro Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010410 p.Gly91Arg Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010411 p.Ala93Val Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010412 p.Asp97Gly Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010413 p.Arg98Cys Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010414 p.Ile103Thr Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010415 p.Ile124Thr Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010416 p.Glu137Lys Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010417 p.Leu158Phe Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010418 p.Val196Ile Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010419 p.Pro205His Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010420 p.Val242Ala Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010431 p.Leu173Pro Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010432 p.Pro228Gln Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_010433 p.Val247Met Disease - Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCA Q16586 VAR_037966 p.Glu137Gly Disease rs28933694 Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] SGCB Q16585 VAR_010391 p.Arg91Leu Disease - Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] SGCB Q16585 VAR_010392 p.Arg91Pro Disease rs28936384 Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] SGCB Q16585 VAR_010393 p.Met100Lys Disease rs28936386 Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] SGCB Q16585 VAR_010394 p.Leu108Arg Disease - Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] SGCB Q16585 VAR_010395 p.Thr151Arg Disease rs28936383 Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] SGCB Q16585 VAR_010421 p.Gln11Glu Unclassified - - SGCB Q16585 VAR_010422 p.Arg91Cys Disease - Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] SGCB Q16585 VAR_010423 p.Ser114Phe Unclassified - - SGCB Q16585 VAR_010424 p.Ile119Phe Disease - Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] SGCB Q16585 VAR_010425 p.Gly139Asp Unclassified - - SGCB Q16585 VAR_010426 p.Gly167Ser Disease - Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] SGCB Q16585 VAR_010427 p.Thr182Ala Unclassified - - SGCB Q16585 VAR_010428 p.Tyr184Cys Unclassified - - SGCD Q92629 VAR_010396 p.Glu261Lys Disease - Limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287] SGCD Q92629 VAR_010429 p.Arg96Gln Polymorphism rs1801194 - SGCD Q92629 VAR_013181 p.Ser150Ala Disease - Cardiomyopathy dilated type 1L (CMD1L) [MIM:606685] SGCE O43556 VAR_026750 p.Leu196Arg Disease - Dystonia type 11 (DYT11) [MIM:159900] SGCE O43556 VAR_058088 p.Asn49Ser Polymorphism rs11548284 - SGCE O43556 VAR_058089 p.Pro399His Polymorphism rs17851923 - SGCG Q13326 VAR_010397 p.Arg116His Polymorphism rs17314986 - SGCG Q13326 VAR_010398 p.Cys283Tyr Disease - Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700] SGCG Q13326 VAR_010399 p.Asn287Ser Polymorphism rs1800354 - SGCG Q13326 VAR_010430 p.Gly69Asp Disease - Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700] SGCG Q13326 VAR_012202 p.Gly69Arg Disease - Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700] SGIP1 Q9BQI5 VAR_027297 p.Glu112Gln Polymorphism rs17490057 - SGIP1 Q9BQI5 VAR_027298 p.Lys131Arg Polymorphism rs7526812 - SGIP1 Q9BQI5 VAR_027299 p.Pro161Gln Polymorphism rs17855645 - SGIP1 Q9BQI5 VAR_027300 p.Lys575Glu Polymorphism rs17854026 - SGK071 Q8NE28 VAR_025611 p.Lys473Glu Polymorphism rs3124747 - SGK071 Q8NE28 VAR_025612 p.Arg568Gln Polymorphism rs17150554 - SGK071 Q8NE28 VAR_041371 p.Gly139Asp Unclassified - A glioblastoma multiforme sample SGK196 Q9H5K3 VAR_041372 p.Ser48Pro Polymorphism rs34466747 - SGK196 Q9H5K3 VAR_041373 p.Tyr140Phe Polymorphism rs34750053 - SGK196 Q9H5K3 VAR_041374 p.Val254Met Polymorphism rs34715198 - SGK196 Q9H5K3 VAR_041375 p.Met301Thr Polymorphism rs33920561 - SGK196 Q9H5K3 VAR_041376 p.Met342Ile Unclassified - A lung small cell carcinoma sample SGK1 O00141 VAR_041071 p.Val219Ile Polymorphism rs34133418 - SGK1 O00141 VAR_041072 p.Ala342Val Polymorphism rs55932330 - SGK223 Q86YV5 VAR_041803 p.Leu122Ile Polymorphism - - SGK223 Q86YV5 VAR_041804 p.Arg137Gly Polymorphism - - SGK223 Q86YV5 VAR_041805 p.Val139Ile Polymorphism - - SGK223 Q86YV5 VAR_041806 p.Arg402Gln Polymorphism - - SGK223 Q86YV5 VAR_041807 p.Pro567Leu Polymorphism - - SGK223 Q86YV5 VAR_041808 p.Ser576Cys Polymorphism - - SGK223 Q86YV5 VAR_041809 p.Pro593Ala Polymorphism - - SGK223 Q86YV5 VAR_041810 p.Pro660Thr Polymorphism - - SGK223 Q86YV5 VAR_041811 p.Pro812Leu Polymorphism - - SGK223 Q86YV5 VAR_041812 p.His849Arg Polymorphism - - SGK223 Q86YV5 VAR_041813 p.Ser1001Leu Polymorphism - - SGK223 Q86YV5 VAR_041814 p.Val1039Met Polymorphism - - SGK223 Q86YV5 VAR_041815 p.Ala1111Thr Polymorphism - - SGK223 Q86YV5 VAR_041816 p.Arg1311His Polymorphism - - SGK2 Q9HBY8 VAR_041073 p.Ser12Thr Polymorphism rs33969356 - SGK2 Q9HBY8 VAR_041074 p.Glu259Lys Unclassified - A lung adenocarcinoma sample SGK2 Q9HBY8 VAR_041075 p.His349Tyr Polymorphism rs35793869 - SGK3 Q96BR1 VAR_035636 p.Ala92Val Unclassified - A breast cancer sample SGK3 Q96BR1 VAR_041076 p.Leu355Pro Polymorphism - - SGMS2 Q8NHU3 VAR_052025 p.Thr21Met Polymorphism rs17038204 - SGOL1 Q5FBB7 VAR_051968 p.Val171Ala Polymorphism rs6806241 - SGOL1 Q5FBB7 VAR_051969 p.Gln322Pro Polymorphism rs9868701 - SGOL2 Q562F6 VAR_024784 p.Gly9Asp Polymorphism rs1036533 - SGOL2 Q562F6 VAR_024785 p.Ile496Val Polymorphism rs17448235 - SGOL2 Q562F6 VAR_057178 p.Glu343Ala Polymorphism rs13417812 - SGOL2 Q562F6 VAR_057179 p.Asn660Ser Polymorphism rs17532665 - SGOL2 Q562F6 VAR_057180 p.Ile1099Thr Polymorphism rs11896759 - SGOL2 Q562F6 VAR_057181 p.His1143Arg Polymorphism rs16833776 - SGPL1 O95470 VAR_048875 p.Val21Leu Polymorphism rs12770335 - SGSH P51688 VAR_007388 p.Tyr40Asn Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007389 p.Ala44Thr Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007390 p.Ser66Trp Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007391 p.Arg74Cys Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007392 p.Arg74His Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007393 p.Thr79Pro Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007395 p.Gln85Arg Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007396 p.Gly90Arg Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007397 p.Gly122Arg Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007398 p.Pro128Leu Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007399 p.Val131Met Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007400 p.Thr139Met Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007401 p.Leu146Pro Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007402 p.Arg150Gln Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007403 p.Asp179Asn Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007404 p.Arg182Cys Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007405 p.Phe193Leu Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007406 p.Arg206Pro Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007407 p.Val226Ala Polymorphism - - SGSH P51688 VAR_007408 p.Pro227Arg Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007409 p.Ala234Gly Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007410 p.Asp235Val Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007411 p.Arg245His Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007412 p.Ser298Pro Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007413 p.Thr321Ala Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007414 p.Ala354Pro Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007415 p.Val361Ile Polymorphism rs9894254 - SGSH P51688 VAR_007416 p.Ser364Arg Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007417 p.Glu369Lys Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007418 p.Arg377Cys Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007419 p.Arg377His Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007420 p.Gln380Arg Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007421 p.Leu386Arg Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007422 p.Asn389Lys Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007423 p.Glu447Lys Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_007424 p.Arg456His Polymorphism rs7503034 - SGSH P51688 VAR_052517 p.Met394Ile Polymorphism rs34297805 - SGSH P51688 VAR_054670 p.Asp32Glu Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054671 p.Asp32Gly Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054672 p.Asn42Lys Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054673 p.His84Tyr Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054674 p.Met88Thr Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054675 p.Ser106Arg Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054676 p.Arg150Trp Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054677 p.Leu163Pro Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054678 p.Gly191Arg Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054679 p.Asp235Asn Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054680 p.Gly251Ala Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054681 p.Asp273Asn Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054682 p.Pro288Ser Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054683 p.Pro293Ser Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054684 p.Pro293Thr Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054685 p.Glu300Val Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054686 p.Arg304Leu Polymorphism - - SGSH P51688 VAR_054687 p.Gln307Pro Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054688 p.Ile322Ser Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054689 p.Glu355Lys Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054690 p.Tyr374His Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054692 p.Val387Met Polymorphism - - SGSH P51688 VAR_054695 p.Arg433Gln Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054696 p.Arg433Trp Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_054698 p.Val486Phe Disease - Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] SGSH P51688 VAR_061884 p.Met372Ile Polymorphism rs58786455 - SGSM1 Q2NKQ1 VAR_031834 p.Thr802Pro Polymorphism rs6004350 - SGSM1 Q2NKQ1 VAR_031835 p.Arg873Lys Polymorphism rs2073201 - SGSM2 O43147 VAR_031795 p.Leu63Met Polymorphism rs17853891 - SGSM2 O43147 VAR_031796 p.Arg238Lys Polymorphism rs745400 - SGSM2 O43147 VAR_031797 p.Arg244Ser Polymorphism rs17853888 - SGSM2 O43147 VAR_031798 p.His329Arg Polymorphism rs17857178 - SGSM2 O43147 VAR_031799 p.Arg374Gln Polymorphism rs2248821 - SGSM2 O43147 VAR_031800 p.Asp968Val Polymorphism rs17857180 - SGSM3 Q96HU1 VAR_051345 p.Trp20Arg Polymorphism rs9611338 - SGSM3 Q96HU1 VAR_051346 p.His279Gln Polymorphism rs34243479 - SH2B1 Q9NRF2 VAR_039550 p.Thr484Ala Polymorphism rs7498665 - SH2B1 Q9NRF2 VAR_039551 p.Val541Ala Polymorphism rs17850682 - SH2B3 Q9UQQ2 VAR_024168 p.Trp262Arg Polymorphism rs3184504 - SH2B3 Q9UQQ2 VAR_046210 p.Phe182Leu Polymorphism rs7972796 - SH2D1A O60880 VAR_005612 p.Arg32Thr Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_005613 p.Thr68Ile Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_005614 p.Pro101Leu Disease rs28935184 Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_018307 p.Arg55Leu Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048005 p.Tyr7Cys Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048006 p.His8Asp Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048007 p.Gly16Asp Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048008 p.Gly27Ser Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048009 p.Ser28Arg Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048010 p.Leu31Pro Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048011 p.Asp33Tyr Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048012 p.Cys42Trp Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048013 p.Gly49Val Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048014 p.Thr53Ile Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048015 p.Tyr54Cys Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048016 p.Ser57Pro Unclassified - - SH2D1A O60880 VAR_048017 p.Ile84Thr Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048018 p.Phe87Ser Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048019 p.Gln99Pro Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1A O60880 VAR_048020 p.Val102Gly Disease - Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] SH2D1B O14796 VAR_051347 p.Ile36Thr Polymorphism rs35688243 - SH2D1B O14796 VAR_051348 p.Asn122Lys Polymorphism rs34001279 - SH2D2A Q9NP31 VAR_024349 p.Asn52Ser Polymorphism rs926103 - SH2D2A Q9NP31 VAR_056986 p.Arg272Cys Polymorphism rs12072861 - SH2D3A Q9BRG2 VAR_026054 p.Asn32Asp Polymorphism rs7258236 - SH2D3A Q9BRG2 VAR_035989 p.Glu265Gly Unclassified - A breast cancer sample SH2D3A Q9BRG2 VAR_051349 p.Asp223Gly Polymorphism rs12608960 - SH2D3C Q8N5H7 VAR_051352 p.Leu23Phe Polymorphism rs10760500 - SH2D4A Q9H788 VAR_026055 p.Glu216Gly Polymorphism rs4921637 - SH2D4A Q9H788 VAR_026056 p.Gly263Ala Polymorphism rs877386 - SH2D4A Q9H788 VAR_051350 p.Glu209Gly Polymorphism rs35647122 - SH2D4A Q9H788 VAR_051351 p.Ser275Asn Polymorphism rs34608771 - SH2D4B Q5SQS7 VAR_056987 p.His237Arg Polymorphism rs7075840 - SH2D4B Q5SQS7 VAR_056988 p.Ser239Leu Polymorphism rs11817391 - SH2D7 A6NKC9 VAR_060127 p.Met137Thr Polymorphism rs2289524 - SH2D7 A6NKC9 VAR_060128 p.Arg206Trp Polymorphism rs12593575 - SH3BGR P55822 VAR_028233 p.Val188Ala Polymorphism rs9974333 - SH3BGR P55822 VAR_057182 p.Asp23Glu Polymorphism rs11575939 - SH3BGR P55822 VAR_057183 p.Asp50Asn Polymorphism rs6517549 - SH3BP1 Q9Y3L3 VAR_033450 p.Pro511Leu Polymorphism rs929038 - SH3BP1 Q9Y3L3 VAR_033451 p.Ser656Phe Polymorphism rs2269548 - SH3BP2 P78314 VAR_013257 p.Arg415Pro Disease - Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013258 p.Arg415Gln Disease - Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013259 p.Pro418His Disease - Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013260 p.Pro418Leu Disease - Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013261 p.Pro418Arg Disease - Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013262 p.Gly420Glu Disease rs28938171 Cherubism (CRBM) [MIM:118400] SH3BP2 P78314 VAR_013263 p.Gly420Arg Disease rs28938170 Cherubism (CRBM) [MIM:118400] SH3BP4 Q9P0V3 VAR_030330 p.Met155Thr Polymorphism rs3731644 - SH3BP4 Q9P0V3 VAR_030331 p.Ala197Thr Polymorphism rs3731646 - SH3D21 A4FU49 VAR_043619 p.Ser217Ala Polymorphism rs12121759 - SH3D21 A4FU49 VAR_056763 p.Ala455Ser Polymorphism rs12121759 - SH3GLB2 Q9NR46 VAR_053078 p.Ala305Val Polymorphism rs17455482 - SH3GLB2 Q9NR46 VAR_053079 p.Pro319Leu Polymorphism rs17455475 - SH3KBP1 Q96B97 VAR_015667 p.Pro382Leu Polymorphism - - SH3PXD2A Q5TCZ1 VAR_030781 p.Lys659Gln Polymorphism rs11818820 - SH3PXD2A Q5TCZ1 VAR_030782 p.Arg1035Gln Polymorphism rs3781365 - SH3PXD2A Q5TCZ1 VAR_056993 p.Leu1073Pro Polymorphism rs12764700 - SH3PXD2B A1X283 VAR_046226 p.Tyr101Phe Polymorphism rs6880739 - SH3PXD2B A1X283 VAR_063764 p.Arg43Trp Disease - Frank-Ter Haar syndrome (FTHS) [MIM:249420] SH3RF1 Q7Z6J0 VAR_043342 p.Pro663Ser Polymorphism rs3811813 - SH3RF2 Q8TEC5 VAR_029788 p.Arg267Cys Polymorphism rs758037 - SH3RF2 Q8TEC5 VAR_029789 p.Trp592Arg Polymorphism rs2962525 - SH3RF2 Q8TEC5 VAR_029790 p.Val687Ile Polymorphism rs11435 - SH3RF2 Q8TEC5 VAR_029791 p.Gly710Ala Polymorphism rs1056149 - SH3RF2 Q8TEC5 VAR_052118 p.Phe16Ser Polymorphism rs34739859 - SH3RF2 Q8TEC5 VAR_052119 p.Phe174Val Polymorphism rs34942619 - SH3RF2 Q8TEC5 VAR_052120 p.Arg477Gln Polymorphism rs35165046 - SH3TC1 Q8TE82 VAR_021934 p.Arg785Cys Polymorphism rs1281149 - SH3TC1 Q8TE82 VAR_034127 p.Asp291Asn Polymorphism rs1281138 - SH3TC1 Q8TE82 VAR_034128 p.Leu437Pro Polymorphism rs1281145 - SH3TC1 Q8TE82 VAR_035866 p.Arg719His Unclassified - A colorectal cancer sample SH3TC1 Q8TE82 VAR_035867 p.Ala1130Thr Unclassified - A colorectal cancer sample SH3TC2 Q8TF17 VAR_018267 p.Ala468Ser Polymorphism rs6875902 - SH3TC2 Q8TF17 VAR_018268 p.Arg529Gln Disease - Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596] SH3TC2 Q8TF17 VAR_018269 p.Glu657Lys Disease - Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596] SH3TC2 Q8TF17 VAR_018270 p.Arg658Cys Disease - Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596] SH3TC2 Q8TF17 VAR_052622 p.Gly171Glu Polymorphism rs17722293 - SH3TC2 Q8TF17 VAR_052623 p.His696Arg Polymorphism rs17109261 - SH3TC2 Q8TF17 VAR_064421 p.Tyr169His Disease - Mononeuropathy of the median nerve mild (MNMN) [MIM:613353] SHANK1 Q9Y566 VAR_022123 p.Val1504Ala Polymorphism rs3745521 - SHANK1 Q9Y566 VAR_036541 p.Ala569Asp Unclassified - A colorectal cancer sample SHANK1 Q9Y566 VAR_036542 p.Gly2026Arg Unclassified - A colorectal cancer sample SHANK1 Q9Y566 VAR_055318 p.Ala6Val Polymorphism rs10423744 - SHANK3 Q9BYB0 VAR_032804 p.Arg12Cys Polymorphism - - SHANK3 Q9BYB0 VAR_032805 p.Ala198Gly Polymorphism - - SHANK3 Q9BYB0 VAR_032806 p.Ala224Thr Polymorphism - - SHANK3 Q9BYB0 VAR_032807 p.Ile245Thr Polymorphism rs9616915 - SHANK3 Q9BYB0 VAR_032808 p.Arg300Cys Polymorphism - - SHARPIN Q9H0F6 VAR_047799 p.Ser282Thr Polymorphism rs11541804 - SHARPIN Q9H0F6 VAR_047800 p.Pro294Ser Polymorphism rs34674752 - SHARPIN Q9H0F6 VAR_047801 p.Pro311Arg Polymorphism rs35844464 - SHBG P04278 VAR_013129 p.Asp356Asn Polymorphism rs6259 - SHBG P04278 VAR_013946 p.Arg25His Polymorphism rs6260 - SHBG P04278 VAR_016182 p.Pro185Leu Polymorphism rs6258 - SHBG P04278 VAR_022002 p.Arg22His Polymorphism rs9282845 - SHC1 P29353 VAR_042428 p.Ala205Val Polymorphism rs8191981 - SHC1 P29353 VAR_051353 p.Met410Val Polymorphism rs8191979 - SHC4 Q6S5L8 VAR_043672 p.Asn52Asp Polymorphism rs17856991 - SHC4 Q6S5L8 VAR_043673 p.Lys244Glu Polymorphism rs17856990 - SHC4 Q6S5L8 VAR_043674 p.Gln400His Polymorphism rs16961728 - SHC4 Q6S5L8 VAR_043675 p.Asp447Gly Polymorphism rs17856992 - SHCBP1L Q9BZQ2 VAR_031836 p.Val563Met Polymorphism rs12138972 - SHCBP1 Q8NEM2 VAR_051354 p.Met21Thr Polymorphism rs6598679 - SHCBP1 Q8NEM2 VAR_051355 p.Met60Arg Polymorphism rs11545690 - SHD Q96IW2 VAR_027043 p.Gly138Ser Polymorphism rs2287714 - SHD Q96IW2 VAR_027044 p.Asn270Ser Polymorphism rs888930 - SHFM1 P60896 VAR_012003 p.Asp17Gly Polymorphism rs1802882 - SHH Q15465 VAR_003619 p.Gly31Arg Disease rs28936675 Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_003620 p.Trp117Gly Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_003621 p.Trp117Arg Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009163 p.Asp88Val Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009164 p.Gln100His Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009165 p.Asn115Lys Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009166 p.Glu188Gln Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009167 p.Asp222Asn Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009168 p.Val224Glu Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009169 p.Ala226Thr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009170 p.Ser236Arg Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009172 p.Gly290Asp Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009174 p.Ala383Thr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009176 p.Pro424Ala Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_009177 p.Ser436Leu Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_017883 p.Ile111Phe Disease - Solitary median maxillary central incisor (SMMCI) [MIM:147250] SHH Q15465 VAR_023804 p.Arg6Thr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023806 p.Ala110Asp Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023807 p.Thr150Arg Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023809 p.Leu271Pro Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023810 p.Val332Ala Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023810 p.Val332Ala Disease - Solitary median maxillary central incisor (SMMCI) [MIM:147250] SHH Q15465 VAR_023811 p.Pro347Gln Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023812 p.Ile354Thr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_023813 p.Arg381Pro Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039888 p.Gly27Ala Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039889 p.Ile111Asn Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039890 p.His140Pro Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039891 p.His140Gln Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039892 p.Cys183Phe Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039893 p.Thr267Ile Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_039894 p.Ala373Thr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062592 p.Leu17Pro Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062593 p.Pro26Leu Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062594 p.Leu39Pro Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062595 p.Glu53Lys Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062596 p.Asp83Val Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062597 p.Ile84Phe Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062598 p.Cys102Arg Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062599 p.Cys102Tyr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062600 p.Leu109Phe Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062601 p.Ala110Thr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062602 p.Val124Met Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062603 p.Glu136Lys Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062604 p.Gly143Asp Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062605 p.Arg144Pro Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062606 p.Asp147Asn Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062607 p.Thr150Lys Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062608 p.Ser156Arg Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062609 p.Phe170Cys Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062610 p.Asp171His Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062611 p.Cys183Arg Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062612 p.Cys183Tyr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062613 p.Ser184Leu Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062615 p.Gly196Glu Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062616 p.Gly197Val Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062617 p.Cys198Phe Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062618 p.Cys198Ser Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062619 p.Leu218Pro Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062620 p.Gly231Val Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062621 p.Arg232Gly Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062622 p.Leu234Pro Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062623 p.Ser236Asn Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062624 p.Phe241Leu Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062625 p.Phe241Val Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062626 p.Ile255Asn Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062627 p.Ala275Glu Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062628 p.Ser280Trp Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062629 p.Gly296Ala Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062630 p.Arg310Cys Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062631 p.Arg321Ser Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062632 p.Ala346Val Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062633 p.Pro347Leu Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062634 p.Pro347Arg Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062635 p.Ser362Leu Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062636 p.Cys363Tyr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062637 p.Tyr364Cys Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062638 p.His374Arg Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062639 p.Ala376Asp Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062640 p.Phe377Ser Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062641 p.Leu382Pro Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062642 p.Ala391Thr Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062646 p.Thr416Ala Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062647 p.Tyr435Asn Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHH Q15465 VAR_062648 p.Gly456Arg Disease - Holoprosencephaly type 3 (HPE3) [MIM:142945] SHISA3 A0PJX4 VAR_042687 p.Trp13Cys Polymorphism rs11733156 - SHISA4 Q96DD7 VAR_028811 p.Ile159Met Polymorphism rs2250377 - SHISA5 Q8N114 VAR_054031 p.Gly216Arg Polymorphism rs35750010 - SHKBP1 Q8TBC3 VAR_036714 p.Gln507Leu Polymorphism rs17855499 - SHMT1 P34896 VAR_022010 p.Leu474Phe Polymorphism rs1979277 - SHMT1 P34896 VAR_059795 p.Glu340Gln Polymorphism rs7215148 - SHOC2 Q9UQ13 VAR_060199 p.Ser2Gly Disease - Noonan syndrome-like disorder with loose anagen hair (NSLH) [MIM:607721] SHOX O15266 VAR_012346 p.Arg173Cys Disease - Leri-Weill dyschondrosteosis (LWD) [MIM:127300] SHOX O15266 VAR_019414 p.Leu132Val Disease - Leri-Weill dyschondrosteosis (LWD) [MIM:127300] SHOX O15266 VAR_019415 p.Arg153Leu Disease - Leri-Weill dyschondrosteosis (LWD) [MIM:127300] SHOX O15266 VAR_019416 p.Arg168Trp Disease - Langer mesomelic dysplasia (LMD) [MIM:249700] SHPK Q9UHJ6 VAR_042580 p.Glu215Lys Polymorphism rs150857 - SHPK Q9UHJ6 VAR_048591 p.Asp421Glu Polymorphism rs224496 - SHPK Q9UHJ6 VAR_048592 p.Leu434Met Polymorphism rs36125540 - SHPRH Q149N8 VAR_031857 p.Gln438Arg Unclassified - An ovarian cancer cell line SHPRH Q149N8 VAR_031858 p.Ser460Phe Unclassified - A melanoma cell line SHPRH Q149N8 VAR_031859 p.Asn1028Tyr Unclassified - A melanoma cell line SHPRH Q149N8 VAR_064750 p.Val1222Asp Unclassified - - SHQ1 Q6PI26 VAR_034962 p.Ser140Ile Polymorphism rs17855677 - SHQ1 Q6PI26 VAR_034963 p.Ser489Asn Polymorphism rs35178407 - SHROOM1 Q2M3G4 VAR_032061 p.Pro180Leu Polymorphism rs2292030 - SHROOM2 Q13796 VAR_024250 p.Leu1607Phe Polymorphism rs2073942 - SHROOM2 Q13796 VAR_036577 p.Asp1245His Unclassified - A breast cancer sample SHROOM2 Q13796 VAR_053896 p.Asp942Glu Polymorphism rs16985780 - SHROOM2 Q13796 VAR_053897 p.Ile1475Val Polymorphism rs12012202 - SHROOM3 Q8TF72 VAR_032062 p.Leu147His Polymorphism rs3821979 - SHROOM3 Q8TF72 VAR_032063 p.Gly279Ala Polymorphism rs344140 - SHROOM3 Q8TF72 VAR_032064 p.Pro469Ala Polymorphism rs344141 - SHROOM3 Q8TF72 VAR_032065 p.Pro1290Leu Polymorphism rs3733242 - SHROOM4 Q9ULL8 VAR_032257 p.Asp970Gly Polymorphism rs2281571 - SHROOM4 Q9ULL8 VAR_032258 p.Ser1089Leu Disease - Mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:300434] SHROOM4 Q9ULL8 VAR_057770 p.Arg722His Polymorphism rs3761506 - SHROOM4 Q9ULL8 VAR_057771 p.Ile807Thr Polymorphism rs3761505 - SIAE Q9HAT2 VAR_051356 p.Lys71Arg Polymorphism rs12282107 - SIAE Q9HAT2 VAR_051357 p.Ala467Val Polymorphism rs7941523 - SIAE Q9HAT2 VAR_064438 p.Ala3Gly Unclassified - - SIAE Q9HAT2 VAR_064439 p.Asn33Ser Unclassified - - SIAE Q9HAT2 VAR_064440 p.Arg62His Unclassified - - SIAE Q9HAT2 VAR_064441 p.Gly64Ser Unclassified - - SIAE Q9HAT2 VAR_064442 p.Met89Val Polymorphism rs78778622 - SIAE Q9HAT2 VAR_064443 p.Gln161Lys Unclassified - - SIAE Q9HAT2 VAR_064444 p.Cys196Phe Disease - Autoimmune disease type 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064445 p.Gly212Arg Disease - Autoimmune disease type 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064446 p.Arg230Trp Disease - Autoimmune disease type 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064447 p.Cys266Gly Disease - Autoimmune disease type 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064448 p.Gln309Pro Disease - Autoimmune disease type 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064449 p.Thr312Met Unclassified - - SIAE Q9HAT2 VAR_064450 p.Arg314His Unclassified - - SIAE Q9HAT2 VAR_064451 p.Tyr349Cys Disease - Autoimmune disease type 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064452 p.Arg393His Disease - Autoimmune disease type 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064453 p.Lys400Asn Unclassified - - SIAE Q9HAT2 VAR_064454 p.Phe404Ser Disease - Autoimmune disease type 6 (AIS6) [MIM:613551] SIAE Q9HAT2 VAR_064455 p.His447Arg Unclassified - - SIAE Q9HAT2 VAR_064456 p.Met456Ile Unclassified - - SIAE Q9HAT2 VAR_064457 p.Gln462Arg Unclassified - - SIAE Q9HAT2 VAR_064458 p.Arg479Cys Disease - Autoimmune disease type 6 (AIS6) [MIM:613551] SIDT1 Q9NXL6 VAR_057184 p.Val78Met Polymorphism rs2271496 - SIDT1 Q9NXL6 VAR_057185 p.Thr363Ile Polymorphism rs33990195 - SIDT1 Q9NXL6 VAR_061793 p.Gly3Ser Polymorphism rs9879313 - SIDT2 Q8NBJ9 VAR_034493 p.Thr631Met Polymorphism rs12285035 - SIDT2 Q8NBJ9 VAR_034494 p.Val636Ile Polymorphism rs17120425 - SIGIRR Q6IA17 VAR_058702 p.Gln312Arg Polymorphism rs3210908 - SIGLEC10 Q96LC7 VAR_019955 p.Ala226Val Polymorphism rs9304711 - SIGLEC10 Q96LC7 VAR_019956 p.Arg520Ser Polymorphism rs1833785 - SIGLEC12 Q96PQ1 VAR_014259 p.Pro81Thr Polymorphism rs2034891 - SIGLEC12 Q96PQ1 VAR_020088 p.Thr478Met Polymorphism rs3829658 - SIGLEC12 Q96PQ1 VAR_020089 p.Tyr494Ser Polymorphism rs3752135 - SIGLEC12 Q96PQ1 VAR_024501 p.His217Gln Polymorphism rs6509544 - SIGLEC12 Q96PQ1 VAR_049931 p.Pro81His Polymorphism rs2034891 - SIGLEC12 Q96PQ1 VAR_049932 p.Ala82Val Polymorphism rs3810110 - SIGLEC12 Q96PQ1 VAR_049933 p.Gly218Arg Polymorphism rs6509544 - SIGLEC12 Q96PQ1 VAR_049934 p.His398Tyr Polymorphism rs11668530 - SIGLEC12 Q96PQ1 VAR_049935 p.Tyr586Cys Polymorphism rs7245807 - SIGLEC12 Q96PQ1 VAR_061327 p.Pro546Gln Polymorphism rs57043266 - SIGLEC15 Q6ZMC9 VAR_033174 p.Phe273Leu Polymorphism rs2919643 - SIGLEC1 Q9BZZ2 VAR_014136 p.Lys239Arg Polymorphism rs625372 - SIGLEC1 Q9BZZ2 VAR_014137 p.His919Pro Polymorphism rs709012 - SIGLEC1 Q9BZZ2 VAR_014138 p.Ala1519Pro Polymorphism rs2853217 - SIGLEC1 Q9BZZ2 VAR_021926 p.Ala974Val Polymorphism rs3746638 - SIGLEC1 Q9BZZ2 VAR_021927 p.Ser1335Tyr Polymorphism rs3746636 - SIGLEC1 Q9BZZ2 VAR_024502 p.Val221Met Polymorphism rs6037651 - SIGLEC1 Q9BZZ2 VAR_049943 p.Val141Leu Polymorphism rs35953127 - SIGLEC1 Q9BZZ2 VAR_049944 p.Arg464His Polymorphism rs34924243 - SIGLEC1 Q9BZZ2 VAR_049945 p.Arg1487Trp Polymorphism rs16988873 - SIGLEC5 O15389 VAR_014249 p.Val72Ala Polymorphism rs1973019 - SIGLEC5 O15389 VAR_014250 p.Met215Val Polymorphism rs1807124 - SIGLEC5 O15389 VAR_014251 p.Phe322Ser Polymorphism rs2278831 - SIGLEC5 O15389 VAR_020087 p.Pro499Ala Polymorphism rs3829655 - SIGLEC5 O15389 VAR_049929 p.Arg358Trp Polymorphism rs8108074 - SIGLEC6 O43699 VAR_014252 p.Leu57Val Polymorphism rs2305773 - SIGLEC6 O43699 VAR_014253 p.Leu262Phe Polymorphism rs2005199 - SIGLEC7 Q9Y286 VAR_035523 p.Leu215Pro Unclassified - A colorectal cancer sample SIGLEC8 Q9NYZ4 VAR_021487 p.Ser170Pro Polymorphism rs10409962 - SIGLEC8 Q9NYZ4 VAR_049930 p.Arg388Gly Polymorphism rs3829659 - SIGLEC8 Q9NYZ4 VAR_064751 p.Val282Leu Unclassified - - SIGLEC9 Q9Y336 VAR_014254 p.Lys100Glu Polymorphism rs2075803 - SIGLEC9 Q9Y336 VAR_014255 p.Ser125Asn Polymorphism rs200658 - SIGLEC9 Q9Y336 VAR_014256 p.Asn147Lys Polymorphism rs273687 - SIGLEC9 Q9Y336 VAR_014257 p.Ala315Glu Polymorphism rs2258983 - SIGLEC9 Q9Y336 VAR_014258 p.Ala316Asp Polymorphism rs273688 - SIGLEC9 Q9Y336 VAR_033621 p.Lys131Gln Polymorphism rs16988910 - SIGLEC9 Q9Y336 VAR_033622 p.Val349Ala Polymorphism rs273690 - SIGMAR1 Q99720 VAR_029750 p.Gln2Pro Polymorphism rs1800866 - SIGMAR1 Q99720 VAR_029751 p.Arg211Gln Polymorphism - - SIK1 P57059 VAR_021255 p.Ala615Val Polymorphism rs430554 - SIK1 P57059 VAR_033910 p.Arg430Trp Polymorphism rs34164089 - SIK1 P57059 VAR_041087 p.Gly15Ser Polymorphism rs3746951 - SIK1 P57059 VAR_041088 p.Asp142Asn Polymorphism rs45491503 - SIK1 P57059 VAR_041089 p.Gly211Ser Unclassified - A glioblastoma multiforme sample SIK1 P57059 VAR_041090 p.Gly469Asp Unclassified - A metastatic melanoma sample SIK1 P57059 VAR_041091 p.Pro696Leu Polymorphism rs56386767 - SIK1 P57059 VAR_041092 p.Ala725Val Polymorphism rs35596465 - SIK2 Q9H0K1 VAR_041093 p.Thr458Ile Polymorphism rs35789057 - SIK2 Q9H0K1 VAR_041094 p.Arg809Gln Polymorphism rs34223841 - SIK2 Q9H0K1 VAR_041095 p.Pro825Leu Polymorphism rs55889697 - SIK2 Q9H0K1 VAR_051667 p.Pro828Leu Polymorphism rs45520245 - SIK2 Q9H0K1 VAR_051668 p.Pro829Ser Polymorphism rs45586732 - SIK3 Q9Y2K2 VAR_035634 p.His331Leu Unclassified - A breast cancer sample SIK3 Q9Y2K2 VAR_035635 p.Ala1103Val Unclassified - A breast cancer sample SIK3 Q9Y2K2 VAR_051662 p.Asp1040Glu Polymorphism rs11216163 - SIK3 Q9Y2K2 VAR_051663 p.Pro1078Arg Polymorphism rs12225230 - SIL1 Q9H173 VAR_034495 p.Gln80Arg Polymorphism rs35581768 - SIM1 P81133 VAR_034496 p.Pro352Thr Polymorphism rs3734354 - SIM1 P81133 VAR_034497 p.Ala371Val Polymorphism rs3734355 - SIM1 P81133 VAR_049549 p.Leu175Phe Polymorphism rs438766 - SIM2 Q14190 VAR_024281 p.Leu483Met Polymorphism rs2073601 - SIMC1 Q8NDZ2 VAR_027568 p.Ser221Phe Polymorphism rs2001605 - SIMC1 Q8NDZ2 VAR_027569 p.Lys463Arg Polymorphism rs17857141 - SIMC1 Q8NDZ2 VAR_027570 p.His772Arg Polymorphism rs17853733 - SIMC1 Q8NDZ2 VAR_059603 p.Ser636Phe Polymorphism rs2001605 - SIN3A Q96ST3 VAR_062129 p.Met1156Leu Polymorphism rs60213317 - SI P14410 VAR_007854 p.Gln1098Pro Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025367 p.Val15Phe Polymorphism rs9290264 - SI P14410 VAR_025368 p.Gln117Arg Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025369 p.Thr231Ala Polymorphism rs9283633 - SI P14410 VAR_025370 p.Leu341Pro Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025371 p.Val577Gly Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025372 p.Ser594Pro Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025373 p.Leu620Pro Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025374 p.Thr694Pro Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025375 p.Gly1073Asp Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025376 p.Cys1229Tyr Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025377 p.Arg1367Gly Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_025378 p.Met1523Ile Polymorphism rs4855271 - SI P14410 VAR_025379 p.Phe1745Cys Disease - Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] SI P14410 VAR_034522 p.Thr1802Ser Polymorphism rs9917722 - SIPA1L1 O43166 VAR_035549 p.Glu996Asp Unclassified - A breast cancer sample SIPA1L1 O43166 VAR_049152 p.Pro56Thr Polymorphism rs12884638 - SIPA1L2 Q9P2F8 VAR_049153 p.Thr49Ala Polymorphism rs16857502 - SIPA1L2 Q9P2F8 VAR_049154 p.Thr1322Ala Polymorphism rs2275307 - SIPA1L2 Q9P2F8 VAR_049155 p.Ser1403Leu Polymorphism rs1547742 - SIPA1L2 Q9P2F8 VAR_049156 p.Gly1639Ser Polymorphism rs2275303 - SIPA1L2 Q9P2F8 VAR_061183 p.Met1424Leu Polymorphism rs3210731 - SIPA1L3 O60292 VAR_025476 p.Gly1371Ser Polymorphism rs2304133 - SIPA1L3 O60292 VAR_025477 p.Pro1450Ala Polymorphism rs3745945 - SIPA1 Q96FS4 VAR_049148 p.Arg80Gln Polymorphism rs35045265 - SIPA1 Q96FS4 VAR_049149 p.Ala106Ser Polymorphism rs3741379 - SIPA1 Q96FS4 VAR_049150 p.Glu174Asp Polymorphism rs34912782 - SIPA1 Q96FS4 VAR_049151 p.Ser182Phe Polymorphism rs3741378 - SIRPA P78324 VAR_015463 p.Ala20Pro Polymorphism - - SIRPA P78324 VAR_015464 p.Asp40Glu Polymorphism - - SIRPA P78324 VAR_015465 p.Leu44Ser Polymorphism rs1135193 - SIRPA P78324 VAR_015466 p.Thr50Ser Polymorphism rs17855609 - SIRPA P78324 VAR_015468 p.Thr52Ile Polymorphism rs17855610 - SIRPA P78324 VAR_015470 p.Arg54His Polymorphism rs17855611 - SIRPA P78324 VAR_015471 p.Ala57Val Polymorphism rs17855612 - SIRPA P78324 VAR_015472 p.Ile61Asn Polymorphism - - SIRPA P78324 VAR_015473 p.Trp68Arg Polymorphism - - SIRPA P78324 VAR_015474 p.Gly75Ala Polymorphism rs1057114 - SIRPA P78324 VAR_015475 p.Glu77Lys Polymorphism - - SIRPA P78324 VAR_015477 p.Asn81His Polymorphism - - SIRPA P78324 VAR_015478 p.Asp95Glu Polymorphism - - SIRPA P78324 VAR_015479 p.Leu96Ser Polymorphism - - SIRPA P78324 VAR_015480 p.Asn100Glu Unclassified - - SIRPA P78324 VAR_015483 p.Arg107Ser Polymorphism rs17855615 - SIRPA P78324 VAR_015484 p.Gly109Ser Polymorphism rs17855616 - SIRPA P78324 VAR_015485 p.Arg125Gln Polymorphism - - SIRPA P78324 VAR_015486 p.Val132Thr Unclassified - - SIRPA P78324 VAR_015487 p.Phe134Leu Polymorphism - - SIRPA P78324 VAR_015488 p.Gln163Asp Unclassified - - SIRPA P78324 VAR_015489 p.Thr181Ser Polymorphism - - SIRPA P78324 VAR_015490 p.Glu190Gln Polymorphism - - SIRPA P78324 VAR_015492 p.Lys214Asn Polymorphism - - SIRPA P78324 VAR_015493 p.Glu220Gly Polymorphism - - SIRPA P78324 VAR_015494 p.Val222Ile Polymorphism - - SIRPA P78324 VAR_015495 p.Gln236Arg Polymorphism - - SIRPA P78324 VAR_015497 p.Arg251Gln Polymorphism - - SIRPA P78324 VAR_015498 p.Gln261Leu Polymorphism - - SIRPA P78324 VAR_015499 p.Val263Met Polymorphism - - SIRPA P78324 VAR_015500 p.Val271Ile Polymorphism - - SIRPA P78324 VAR_015501 p.Arg276Thr Polymorphism - - SIRPA P78324 VAR_015502 p.Val302Leu Polymorphism rs2422666 - SIRPA P78324 VAR_015503 p.Pro339Ser Polymorphism - - SIRPA P78324 VAR_015504 p.Pro353Leu Polymorphism - - SIRPA P78324 VAR_015505 p.Gly357Ser Polymorphism - - SIRPA P78324 VAR_015506 p.Ser367Pro Polymorphism - - SIRPA P78324 VAR_015507 p.Arg370Gln Polymorphism - - SIRPA P78324 VAR_015508 p.Ala389Glu Polymorphism - - SIRPA P78324 VAR_015509 p.Gln443Arg Polymorphism - - SIRPA P78324 VAR_015510 p.Pro460Leu Polymorphism - - SIRPA P78324 VAR_015511 p.Ala486Leu Unclassified - - SIRPA P78324 VAR_015512 p.Pro491Leu Polymorphism - - SIRPB1 O00241 VAR_028789 p.Arg23Gly Polymorphism rs1535882 - SIRPB1 O00241 VAR_028790 p.Arg53His Polymorphism rs2746603 - SIRPB1 O00241 VAR_028791 p.Ile229Met Polymorphism rs2253427 - SIRPB1 O00241 VAR_028792 p.Ala363Pro Polymorphism rs2243603 - SIRPB1 Q5TFQ8 VAR_056077 p.Arg23Gly Polymorphism rs1535882 - SIRPB1 Q5TFQ8 VAR_059411 p.Thr51Ile Polymorphism rs1135196 - SIRPB2 Q5JXA9 VAR_043814 p.Gly153Glu Polymorphism rs6033876 - SIRPB2 Q5JXA9 VAR_043815 p.Glu215Ala Polymorphism rs6042507 - SIRPB2 Q5JXA9 VAR_043816 p.Leu304Phe Polymorphism rs8119290 - SIRPD Q9H106 VAR_056078 p.Asn55Asp Polymorphism rs2249317 - SIRPG Q9P1W8 VAR_049936 p.Val263Ala Polymorphism rs6043409 - SIRPG Q9P1W8 VAR_049937 p.Ser286Leu Polymorphism rs6034239 - SIRT1 Q96EB6 VAR_025148 p.Asp3Glu Polymorphism rs35671182 - SIRT1 Q96EB6 VAR_051976 p.Val484Asp Polymorphism rs1063111 - SIRT3 Q9NTG7 VAR_051977 p.Arg80Trp Polymorphism rs28365927 - SIRT3 Q9NTG7 VAR_051978 p.Val208Ile Polymorphism rs11246020 - SIRT3 Q9NTG7 VAR_051979 p.Gly369Ser Polymorphism rs3020901 - SIRT5 Q9NXA8 VAR_029042 p.Phe285Leu Polymorphism rs9464003 - SIRT5 Q9NXA8 VAR_051980 p.Glu305Gly Polymorphism rs34162626 - SIRT6 Q8N6T7 VAR_017154 p.Ser46Asn Polymorphism rs352493 - SIX1 Q15475 VAR_031024 p.Arg110Trp Disease - Branchiootic syndrome type 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_031025 p.Tyr129Cys Disease - Branchiootic syndrome type 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064948 p.Val17Glu Disease - Branchiootic syndrome type 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064949 p.His73Pro Disease - Branchiootic syndrome type 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064950 p.Val106Gly Disease - Branchiootic syndrome type 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064951 p.Arg110Gln Disease - Branchiootic syndrome type 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064952 p.Arg112Cys Disease - Branchiootic syndrome type 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064953 p.Trp122Arg Disease - Branchiootic syndrome type 3 (BOS3) [MIM:608389] SIX1 Q15475 VAR_064954 p.Pro249Leu Unclassified - - SIX3 O95343 VAR_003771 p.Leu226Val Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_003772 p.Val250Ala Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_003773 p.Arg257Pro Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023797 p.Val92Gly Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023798 p.Ile105Val Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023799 p.His173Pro Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023800 p.Thr202Ile Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023801 p.Pro231Arg Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_023802 p.Arg257Trp Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX3 O95343 VAR_038418 p.Gly69Asp Disease - Holoprosencephaly type 2 (HPE2) [MIM:157170] SIX4 Q9UIU6 VAR_036441 p.Glu23Gln Unclassified - A breast cancer sample SIX4 Q9UIU6 VAR_036442 p.Gly446Asp Unclassified - A breast cancer sample SIX4 Q9UIU6 VAR_036443 p.Asp780Glu Unclassified - A breast cancer sample SIX4 Q9UIU6 VAR_058281 p.His605Pro Polymorphism rs3742636 - SIX5 Q8N196 VAR_032941 p.Ala158Thr Disease - Branchiootorenal syndrome type 2 (BOR2) [MIM:610896] SIX5 Q8N196 VAR_032942 p.Ala296Thr Disease - Branchiootorenal syndrome type 2 (BOR2) [MIM:610896] SIX5 Q8N196 VAR_032943 p.Gly365Arg Disease - Branchiootorenal syndrome type 2 (BOR2) [MIM:610896] SIX5 Q8N196 VAR_032944 p.Thr552Met Disease - Branchiootorenal syndrome type 2 (BOR2) [MIM:610896] SIX5 Q8N196 VAR_032945 p.Leu556Val Polymorphism rs2014377 - SIX5 Q8N196 VAR_032946 p.Pro635Ser Polymorphism rs2014576 - SIX5 Q8N196 VAR_032947 p.Val693Met Polymorphism rs2341097 - SIX6 O95475 VAR_026241 p.Thr165Ala Disease - Microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550] SIX6 O95475 VAR_031631 p.His141Asn Polymorphism rs33912345 - SIX6OS1 Q8N1H7 VAR_056983 p.Tyr125Cys Polymorphism rs1956551 - SIX6OS1 Q8N1H7 VAR_056984 p.Ser309Leu Polymorphism rs1033734 - SIX6OS1 Q8N1H7 VAR_059715 p.Val404Ile Polymorphism rs11625921 - SKA1 Q96BD8 VAR_030091 p.Val91Ile Polymorphism rs6507992 - SKA3 Q8IX90 VAR_023113 p.Thr254Ala Polymorphism rs17345690 - SKA3 Q8IX90 VAR_057831 p.Val58Ile Polymorphism rs11546983 - SKA3 Q8IX90 VAR_057832 p.Asp335Glu Polymorphism rs17279819 - SKAP1 Q86WV1 VAR_029811 p.Gly161Ser Polymorphism rs2278868 - SKAP1 Q86WV1 VAR_035343 p.Ser242Gly Polymorphism rs35288886 - SKAP2 O75563 VAR_029812 p.Ala202Ser Polymorphism rs1129771 - SKAP2 O75563 VAR_029813 p.Ser253Thr Polymorphism rs17154402 - SKIL P12757 VAR_011677 p.Ala38Val Polymorphism rs3772173 - SKIV2L2 P42285 VAR_049343 p.Ala346Pro Polymorphism rs35643285 - SKIV2L Q15477 VAR_035944 p.Leu183Val Unclassified - A breast cancer sample SKIV2L Q15477 VAR_035945 p.Met765Ile Unclassified - A colorectal cancer sample SKIV2L Q15477 VAR_055888 p.Arg324Trp Polymorphism rs36038685 - SKIV2L Q15477 VAR_055889 p.Asp887Asn Polymorphism rs3911893 - SKIV2L Q15477 VAR_055890 p.Val917Met Polymorphism rs106287 - SKIV2L Q15477 VAR_055891 p.Ala1071Val Polymorphism rs449643 - SKIV2L Q15477 VAR_060379 p.Gln151Arg Polymorphism rs438999 - SKIV2L Q15477 VAR_060380 p.Met214Leu Polymorphism rs437179 - SKIV2L Q15477 VAR_060381 p.Gly1153Arg Polymorphism rs2734329 - SKIV2L Q15477 VAR_060382 p.Val1238Gly Polymorphism rs2746400 - SKOR2 Q2VWA4 VAR_043438 p.Phe947Cys Polymorphism rs7235231 - SKP1 P63208 VAR_051999 p.Phe14Leu Polymorphism rs11538034 - SKP2 Q13309 VAR_016984 p.Pro85Leu Polymorphism rs3913486 - SKP2 Q13309 VAR_016985 p.Leu87Ile Polymorphism rs3913487 - SLA2 Q9H6Q3 VAR_051361 p.Val210Met Polymorphism rs34834764 - SLAMF1 Q13291 VAR_021924 p.Phe11Leu Polymorphism rs2295612 - SLAMF1 Q13291 VAR_021925 p.Pro333Thr Polymorphism rs3796504 - SLAMF1 Q13291 VAR_035524 p.Leu81Phe Unclassified - A breast cancer sample SLAMF7 Q9NQ25 VAR_049938 p.His175Tyr Polymorphism rs35325048 - SLAMF7 Q9NQ25 VAR_049939 p.Thr302Met Polymorphism rs2295617 - SLAMF8 Q9P0V8 VAR_049940 p.Pro5Thr Polymorphism rs2494514 - SLAMF8 Q9P0V8 VAR_049941 p.Gly99Ser Polymorphism rs34687326 - SLAMF8 Q9P0V8 VAR_049942 p.Val129Met Polymorphism rs3795331 - SLAMF9 Q96A28 VAR_023580 p.Ile127Leu Polymorphism rs2789417 - SLAMF9 Q96A28 VAR_032812 p.Val86Met Polymorphism rs34540580 - SLAMF9 Q96A28 VAR_032813 p.Asp164His Polymorphism rs35438196 - SLAMF9 Q96A28 VAR_032814 p.Glu181Lys Polymorphism rs34884993 - SLA Q13239 VAR_061706 p.Pro15Thr Polymorphism rs4486183 - SLC10A1 Q14973 VAR_022113 p.Ser267Phe Polymorphism rs2296651 - SLC10A2 Q12908 VAR_004613 p.Ser171Ala Polymorphism rs188096 - SLC10A2 Q12908 VAR_004614 p.Leu243Pro Disease - Primary bile acid malabsorption (PBAM) [MIM:613291] SLC10A2 Q12908 VAR_004615 p.Thr262Met Disease - Primary bile acid malabsorption (PBAM) [MIM:613291] SLC10A2 Q12908 VAR_004616 p.Pro290Ser Polymorphism rs56398830 - SLC10A2 Q12908 VAR_024837 p.Val98Ile Polymorphism rs55971546 - SLC10A2 Q12908 VAR_024838 p.Val159Ile Polymorphism rs60380298 - SLC10A3 P09131 VAR_050229 p.Val354Ile Polymorphism rs35381503 - SLC10A5 Q5PT55 VAR_050230 p.Ile287Thr Polymorphism rs7012758 - SLC10A6 Q3KNW5 VAR_036904 p.Ser6Phe Polymorphism rs17694522 - SLC10A6 Q3KNW5 VAR_036905 p.Ile114Val Polymorphism rs13106574 - SLC11A1 P49279 VAR_004629 p.Gln30Arg Polymorphism - - SLC11A1 P49279 VAR_004630 p.Ala318Val Polymorphism - - SLC11A1 P49279 VAR_004631 p.Asp543Asn Polymorphism rs17235409 - SLC11A2 P49281 VAR_008882 p.Leu435Ile Polymorphism - - SLC11A2 P49281 VAR_033012 p.Gly212Val Disease - Hypochromic microcytic anemia (HCMA) [MIM:206100] SLC11A2 P49281 VAR_033013 p.Glu399Asp Disease - Hypochromic microcytic anemia (HCMA) [MIM:206100] SLC11A2 P49281 VAR_033014 p.Arg416Cys Disease - Hypochromic microcytic anemia (HCMA) [MIM:206100] SLC11A2 P49281 VAR_036434 p.Ala48Thr Unclassified - A colorectal cancer sample SLC12A1 Q13621 VAR_010223 p.Val272Phe Disease - Bartter syndrome type 1 (BS1) [MIM:601678] SLC12A1 Q13621 VAR_010224 p.Asp648Asn Disease - Bartter syndrome type 1 (BS1) [MIM:601678] SLC12A1 Q13621 VAR_047257 p.Val958Ala Polymorphism rs1552311 - SLC12A3 P55017 VAR_007113 p.Arg209Trp Disease rs28936388 Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007114 p.Pro349Leu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007115 p.Cys421Arg Disease rs28936387 Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007116 p.Asp486Asn Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007117 p.Gly496Cys Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007119 p.Ala588Val Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007120 p.Gly630Val Disease rs28936389 Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007121 p.Arg655His Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007122 p.Arg655Leu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007123 p.Ala728Thr Polymorphism rs36049418 - SLC12A3 P55017 VAR_007124 p.Gly741Arg Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007125 p.Leu850Pro Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_007126 p.Arg955Gln Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039475 p.Thr60Met Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039476 p.Asp62Asn Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039477 p.Glu68Lys Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039478 p.His69Asn Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039479 p.His90Tyr Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039480 p.Arg145His Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039481 p.Val153Met Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039482 p.Ile154Phe Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039483 p.Arg158Gln Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039484 p.Thr163Met Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039485 p.Trp172Arg Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039486 p.Ser178Leu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039487 p.Thr180Lys Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039488 p.Gly186Asp Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039489 p.Arg209Gln Disease rs28936388 Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039490 p.Leu215Pro Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039491 p.Ala226Thr Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039492 p.Gly230Asp Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039493 p.Arg261His Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039494 p.Ala264Gly Polymorphism rs1529927 - SLC12A3 P55017 VAR_039495 p.Ser283Tyr Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039496 p.Lys284Arg Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039497 p.Thr304Pro Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039498 p.Ala313Val Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039499 p.Gly316Val Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039500 p.Arg321Trp Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039501 p.Arg334Trp Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039502 p.Gly342Ala Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039503 p.Gly374Val Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039504 p.Arg399Cys Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039505 p.Gly439Ser Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039506 p.Gly463Glu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039507 p.Ala464Thr Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039508 p.Lys478Glu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039509 p.Leu542Pro Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039510 p.Ser555Leu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039511 p.Pro560His Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039512 p.Ala569Glu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039513 p.Ala569Val Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039514 p.Val578Met Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039515 p.Gly613Ser Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039516 p.Ser615Leu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039517 p.Ser615Trp Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039518 p.Leu623Pro Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039519 p.Arg642Cys Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039520 p.Arg642Gly Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039521 p.Arg642His Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039522 p.Pro643Leu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039523 p.Thr649Arg Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039524 p.Arg655Cys Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039525 p.Met672Ile Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039526 p.Val677Leu Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039527 p.Val677Met Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039528 p.Gly729Val Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039529 p.Gly731Arg Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039530 p.Leu738Arg Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039531 p.Leu849His Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039532 p.Arg852Cys Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039533 p.Arg852His Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039534 p.Arg852Ser Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039535 p.Gly867Ser Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039536 p.Arg871His Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039537 p.Arg904Gln Polymorphism rs11643718 - SLC12A3 P55017 VAR_039538 p.Arg919Cys Polymorphism rs12708965 - SLC12A3 P55017 VAR_039539 p.Arg958Gly Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_039540 p.Cys985Tyr Disease - Gitelman syndrome (GS) [MIM:263800] SLC12A3 P55017 VAR_060106 p.Arg854Lys Polymorphism rs8060046 - SLC12A5 Q9H2X9 VAR_024994 p.Pro1100Leu Polymorphism rs17297532 - SLC12A5 Q9H2X9 VAR_027414 p.Pro407Ala Polymorphism rs16985442 - SLC12A5 Q9H2X9 VAR_036557 p.Gly847Asp Unclassified - A colorectal cancer sample SLC12A6 Q9UHW9 VAR_014960 p.Phe415Ser Polymorphism rs2705339 - SLC12A7 Q9Y666 VAR_028748 p.Ala408Thr Polymorphism rs4526148 - SLC12A8 A0AV02 VAR_035199 p.Arg181Cys Polymorphism rs2993631 - SLC12A8 A0AV02 VAR_035200 p.Pro266Leu Polymorphism rs863642 - SLC12A8 A0AV02 VAR_035201 p.Lys541Arg Polymorphism rs6773138 - SLC12A8 A0AV02 VAR_035202 p.Arg664Gln Polymorphism rs2981482 - SLC12A8 A0AV02 VAR_062148 p.Ile281Val Polymorphism rs621383 - SLC13A1 Q9BZW2 VAR_022018 p.Asn174Ser Polymorphism rs2140516 - SLC13A1 Q9BZW2 VAR_029247 p.Phe42Leu Polymorphism rs28364181 - SLC13A1 Q9BZW2 VAR_029248 p.Val44Ile Polymorphism rs28364177 - SLC13A1 Q9BZW2 VAR_029249 p.Gln157Glu Polymorphism rs28364196 - SLC13A1 Q9BZW2 VAR_029250 p.Tyr205Cys Polymorphism rs28364231 - SLC13A1 Q9BZW2 VAR_029251 p.Arg277His Polymorphism rs28364200 - SLC13A1 Q9BZW2 VAR_029252 p.Val332Ala Polymorphism rs28364201 - SLC13A1 Q9BZW2 VAR_029253 p.Ile392Thr Polymorphism rs28364210 - SLC13A1 Q9BZW2 VAR_059804 p.Thr240Met Polymorphism rs10231144 - SLC13A2 Q13183 VAR_020399 p.Pro385Ser Polymorphism rs45546232 - SLC13A2 Q13183 VAR_020400 p.Ile550Val Polymorphism rs11567842 - SLC13A2 Q13183 VAR_029254 p.Leu44Phe Polymorphism rs45443898 - SLC13A2 Q13183 VAR_029255 p.Phe254Leu Polymorphism rs11568461 - SLC13A2 Q13183 VAR_029256 p.Ala310Pro Polymorphism rs11568441 - SLC13A2 Q13183 VAR_029257 p.Val477Met Polymorphism rs11568476 - SLC13A2 Q13183 VAR_052000 p.Met45Leu Polymorphism rs16964363 - SLC13A4 Q9UKG4 VAR_057193 p.Pro451Ser Polymorphism rs36004833 - SLC14A1 Q13336 VAR_005669 p.Asp280Asn Polymorphism rs1058396 - SLC14A1 Q13336 VAR_013752 p.Ser291Pro Unclassified - - SLC14A1 Q13336 VAR_022319 p.Glu44Lys Polymorphism rs2298720 - SLC14A1 Q13336 VAR_051483 p.Met167Val Polymorphism rs2298719 - SLC14A1 Q13336 VAR_051484 p.Trp171Arg Polymorphism rs9948825 - SLC14A1 Q13336 VAR_065466 p.Asn74Lys Unclassified - - SLC14A1 Q13336 VAR_065467 p.Gly299Glu Unclassified - - SLC14A1 Q13336 VAR_065468 p.Thr319Met Unclassified - - SLC14A2 Q15849 VAR_038690 p.Ala880Thr Polymorphism rs3745009 - SLC14A2 Q15849 VAR_057016 p.Thr37Ile Polymorphism rs34461862 - SLC14A2 Q15849 VAR_057017 p.Gly443Ser Polymorphism rs35245152 - SLC14A2 Q15849 VAR_057018 p.Val750Ile Polymorphism rs1123617 - SLC14A2 Q15849 VAR_060255 p.Ile132Val Polymorphism rs1484873 - SLC14A2 Q15849 VAR_060256 p.Arg510Gln Polymorphism rs9960464 - SLC15A1 P46059 VAR_020456 p.Val122Met Polymorphism rs8187820 - SLC15A1 P46059 VAR_020457 p.Gly419Ala Polymorphism rs4646227 - SLC15A1 P46059 VAR_020458 p.Thr451Asn Polymorphism rs8187838 - SLC15A1 P46059 VAR_022147 p.Ser117Asn Polymorphism rs2297322 - SLC15A1 P46059 VAR_022148 p.Val450Ile Polymorphism rs2274828 - SLC15A1 P46059 VAR_022149 p.Arg459Cys Polymorphism rs2274827 - SLC15A1 P46059 VAR_029321 p.Val21Ile Polymorphism - - SLC15A1 P46059 VAR_029322 p.Phe28Tyr Polymorphism - - SLC15A1 P46059 VAR_029323 p.Ser117Arg Polymorphism rs8187821 - SLC15A1 P46059 VAR_029324 p.Pro537Ser Polymorphism rs8187830 - SLC15A2 Q16348 VAR_047001 p.Arg57His Polymorphism rs1920305 - SLC15A2 Q16348 VAR_047002 p.Tyr73Cys Polymorphism rs1143667 - SLC15A2 Q16348 VAR_047003 p.Leu350Phe Polymorphism rs2257212 - SLC15A2 Q16348 VAR_047004 p.Pro409Ser Polymorphism rs1143671 - SLC15A2 Q16348 VAR_047005 p.Arg509Lys Polymorphism rs1143672 - SLC15A2 Q16348 VAR_047006 p.Ala609Gly Polymorphism rs1143668 - SLC15A2 Q16348 VAR_047007 p.Ala609Pro Polymorphism rs1143673 - SLC15A2 Q16348 VAR_047008 p.Met704Leu Polymorphism rs1920314 - SLC15A3 Q8IY34 VAR_034592 p.Ile349Phe Polymorphism rs17855607 - SLC15A4 Q8N697 VAR_051611 p.Val239Ala Polymorphism rs33990080 - SLC15A5 A6NIM6 VAR_042979 p.His141Gln Polymorphism rs1799516 - SLC15A5 A6NIM6 VAR_042980 p.Pro271Leu Polymorphism rs1527014 - SLC15A5 A6NIM6 VAR_042981 p.Asp494Glu Polymorphism rs1671511 - SLC15A5 A6NIM6 VAR_042982 p.Glu508Lys Polymorphism rs3946358 - SLC16A10 Q8TF71 VAR_037874 p.Lys508Gln Polymorphism rs17072442 - SLC16A11 Q8NCK7 VAR_032157 p.Asp127Gly Polymorphism rs13342692 - SLC16A1 P53985 VAR_010434 p.Lys204Glu Disease - Symptomatic deficiency in lactate transport (SDLT) [MIM:245340] SLC16A1 P53985 VAR_010435 p.Gly472Arg Disease - Symptomatic deficiency in lactate transport (SDLT) [MIM:245340] SLC16A1 P53985 VAR_010436 p.Asp490Glu Polymorphism rs1049434 - SLC16A1 P53985 VAR_054804 p.Ser85Gly Polymorphism rs11551867 - SLC16A2 P36021 VAR_022348 p.Ala150Val Disease - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_022349 p.Leu397Pro Disease - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_022350 p.Leu438Pro Disease - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_057723 p.Ile323Leu Polymorphism rs12849411 - SLC16A2 P36021 VAR_059054 p.Ser120Phe Disease - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_059056 p.Val161Met Disease - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_059057 p.Leu360Trp Disease - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_059059 p.Gly490Arg Disease - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A2 P36021 VAR_059060 p.Leu494Pro Disease - Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] SLC16A4 O15374 VAR_020309 p.Asn264His Polymorphism rs2271885 - SLC16A4 O15374 VAR_053655 p.Ala185Thr Polymorphism rs35157487 - SLC16A6 O15403 VAR_053656 p.Ile121Thr Polymorphism rs35397826 - SLC16A6 O15403 VAR_053657 p.Phe204Ile Polymorphism rs7222013 - SLC16A6 O15403 VAR_053658 p.Glu217Asp Polymorphism rs3744307 - SLC16A6 O15403 VAR_053659 p.Glu221Val Polymorphism rs4410141 - SLC16A7 O60669 VAR_031660 p.Thr445Ser Polymorphism rs3763980 - SLC16A8 O95907 VAR_053654 p.Val405Ala Polymorphism rs2076371 - SLC16A8 O95907 VAR_060107 p.Arg235Trp Polymorphism rs4289289 - SLC16A9 Q7RTY1 VAR_032619 p.Thr258Lys Polymorphism rs2242206 - SLC16A9 Q7RTY1 VAR_032620 p.Asp461Glu Polymorphism rs11006655 - SLC16A9 Q7RTY1 VAR_062149 p.Ala203Val Polymorphism rs56370926 - SLC17A1 Q14916 VAR_050060 p.Ser76Asn Polymorphism rs6933573 - SLC17A1 Q14916 VAR_050061 p.Thr269Ile Polymorphism rs1165196 - SLC17A3 O00476 VAR_024533 p.Ala100Thr Polymorphism rs1165165 - SLC17A3 O00476 VAR_034700 p.Gly201Arg Polymorphism rs56027330 - SLC17A3 O00476 VAR_046633 p.Pro300Leu Polymorphism rs11966370 - SLC17A4 Q9Y2C5 VAR_038709 p.Ala372Thr Polymorphism rs11754288 - SLC17A5 Q9NRA2 VAR_018684 p.Arg39Cys Disease - Salla disease (SD) [MIM:604369] SLC17A5 Q9NRA2 VAR_018685 p.Lys136Glu Disease - Salla disease (SD) [MIM:604369] SLC17A5 Q9NRA2 VAR_018686 p.His183Arg Disease - Infantile sialic acid storage disorder (ISSD) [MIM:269920] SLC17A5 Q9NRA2 VAR_018688 p.Pro334Arg Disease - Infantile sialic acid storage disorder (ISSD) [MIM:269920] SLC17A5 Q9NRA2 VAR_018689 p.Gly371Val Disease - Infantile sialic acid storage disorder (ISSD) [MIM:269920] SLC17A5 Q9NRA2 VAR_034746 p.Val296Ile Polymorphism rs16883930 - SLC17A6 Q9P2U8 VAR_038710 p.Thr40Ser Unclassified - A breast cancer sample SLC17A6 Q9P2U8 VAR_038711 p.Asn551Ser Polymorphism rs7117340 - SLC17A7 Q9P2U7 VAR_042904 p.Pro431Arg Polymorphism rs17855709 - SLC17A8 Q8NDX2 VAR_042905 p.Thr8Ile Polymorphism rs45610843 - SLC17A8 Q8NDX2 VAR_054130 p.Ala211Val Disease - Deafness autosomal dominant type 25 (DFNA25) [MIM:605583] SLC17A8 Q8NDX2 VAR_054131 p.Ala220Thr Polymorphism rs11568530 - SLC17A8 Q8NDX2 VAR_054132 p.Gly246Glu Polymorphism rs11568543 - SLC17A9 Q9BYT1 VAR_055326 p.Asn228Ser Polymorphism rs2427463 - SLC17A9 Q9BYT1 VAR_056128 p.Thr397Met Polymorphism rs7271712 - SLC18A1 P54219 VAR_012065 p.Ile136Thr Polymorphism rs1390938 - SLC18A1 P54219 VAR_020033 p.Ser98Thr Polymorphism rs2270637 - SLC18A1 P54219 VAR_021856 p.Thr4Pro Polymorphism rs2270641 - SLC18A1 P54219 VAR_024632 p.Ala74Val Polymorphism rs17215815 - SLC18A1 P54219 VAR_024633 p.Phe84Ser Polymorphism rs17215801 - SLC18A1 P54219 VAR_024634 p.Ala101Pro Polymorphism rs17222218 - SLC18A1 P54219 VAR_024635 p.Ile164Met Polymorphism rs17222092 - SLC18A1 P54219 VAR_024636 p.Val249Ile Polymorphism rs17215759 - SLC18A1 P54219 VAR_024637 p.Leu392Val Polymorphism rs17092104 - SLC18A1 P54219 VAR_029149 p.Phe82Cys Polymorphism rs17215822 - SLC18A1 P54219 VAR_029150 p.Gly140Arg Polymorphism rs17215808 - SLC18A1 P54219 VAR_029151 p.Ile202Thr Polymorphism rs17222120 - SLC18A1 P54219 VAR_052002 p.Arg11Gln Polymorphism rs17092144 - SLC18A3 Q16572 VAR_020034 p.Ala13Pro Polymorphism rs8187733 - SLC18A3 Q16572 VAR_020035 p.Arg29Trp Polymorphism rs8187734 - SLC18A3 Q16572 VAR_024638 p.Ala520Glu Polymorphism rs8187730 - SLC18A3 Q16572 VAR_029152 p.Arg11Gln Polymorphism rs8187732 - SLC18B1 Q6NT16 VAR_033185 p.Val204Ile Polymorphism rs6926101 - SLC18B1 Q6NT16 VAR_061382 p.Arg11Leu Polymorphism rs59989552 - SLC18B1 Q6NT16 VAR_063260 p.Ser30Pro Polymorphism rs41286192 - SLC19A1 P41440 VAR_020210 p.His27Arg Polymorphism rs1051266 - SLC19A1 P41440 VAR_052404 p.Ala558Val Polymorphism rs35786590 - SLC19A2 O60779 VAR_010248 p.Gly172Asp Disease rs28937595 Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] SLC19A2 O60779 VAR_010249 p.Asp93His Disease - Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] SLC19A2 O60779 VAR_010250 p.Ser143Phe Disease - Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] SLC19A3 Q9BZV2 VAR_025992 p.Gly23Val Disease - Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483] SLC19A3 Q9BZV2 VAR_025993 p.Thr422Ala Disease - Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483] SLC19A3 Q9BZV2 VAR_052405 p.Val350Ala Polymorphism rs34507036 - SLC19A3 Q9BZV2 VAR_061864 p.Val174Ile Polymorphism rs59736804 - SLC1A1 P43005 VAR_023308 p.Phe50Tyr Polymorphism rs16921449 - SLC1A1 P43005 VAR_023309 p.Ala27Gly Polymorphism rs2229885 - SLC1A3 P43003 VAR_011877 p.Glu219Asp Polymorphism rs2032892 - SLC1A3 P43003 VAR_031733 p.Pro290Arg Disease - Episodic ataxia type 6 (EA6) [MIM:612656] SLC1A4 P43007 VAR_011878 p.Gly37Arg Polymorphism rs1064512 - SLC1A4 P43007 VAR_011879 p.Val399Ile Polymorphism rs759458 - SLC1A5 Q15758 VAR_013517 p.Val512Leu Polymorphism rs3027961 - SLC1A5 Q15758 VAR_020439 p.Pro17Ala Polymorphism rs3027956 - SLC1A7 O00341 VAR_035707 p.Arg41Cys Unclassified - A colorectal cancer sample SLC1A7 O00341 VAR_052488 p.Gln537Arg Polymorphism rs1288401 - SLC22A11 Q9NSA0 VAR_053962 p.Val155Gly Polymorphism rs12785832 - SLC22A12 Q96S37 VAR_036720 p.Gly65Trp Polymorphism rs12800450 - SLC22A12 Q96S37 VAR_036721 p.Arg90His Disease - Hypouricemia renal type 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036722 p.Arg92Cys Polymorphism - - SLC22A12 Q96S37 VAR_036723 p.Val138Met Disease - Hypouricemia renal type 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036724 p.Gly164Ser Disease - Hypouricemia renal type 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036725 p.Thr217Met Disease - Hypouricemia renal type 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036726 p.Ala226Val Polymorphism - - SLC22A12 Q96S37 VAR_036727 p.Arg284Gly Unclassified - - SLC22A12 Q96S37 VAR_036728 p.Gly290Cys Unclassified - - SLC22A12 Q96S37 VAR_036729 p.Gln297Glu Unclassified - - SLC22A12 Q96S37 VAR_036730 p.Glu298Asp Disease - Hypouricemia renal type 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036731 p.Ile305Ser Unclassified - - SLC22A12 Q96S37 VAR_036732 p.Gln312Leu Polymorphism - - SLC22A12 Q96S37 VAR_036734 p.Gln382Leu Disease - Hypouricemia renal type 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036735 p.Leu418Arg Disease - Hypouricemia renal type 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036736 p.Met430Thr Disease - Hypouricemia renal type 1 (RHUC1) [MIM:220150] SLC22A12 Q96S37 VAR_036737 p.Arg477His Disease - Hypouricemia renal type 1 (RHUC1) [MIM:220150] SLC22A13 Q9Y226 VAR_025787 p.Val43Ile Polymorphism rs17853496 - SLC22A13 Q9Y226 VAR_025788 p.Leu443Phe Polymorphism rs17857080 - SLC22A14 Q9Y267 VAR_055108 p.Pro108His Polymorphism rs9847584 - SLC22A14 Q9Y267 VAR_055109 p.Lys112Glu Polymorphism rs2073714 - SLC22A14 Q9Y267 VAR_055110 p.Ile144Thr Polymorphism rs194685 - SLC22A14 Q9Y267 VAR_055111 p.Ser245Leu Polymorphism rs1078846 - SLC22A14 Q9Y267 VAR_055112 p.Val284Met Polymorphism rs818818 - SLC22A14 Q9Y267 VAR_055113 p.Ser292Gly Polymorphism rs818817 - SLC22A14 Q9Y267 VAR_055114 p.Leu466Pro Polymorphism rs34256819 - SLC22A14 Q9Y267 VAR_055115 p.Ala512Val Polymorphism rs2070492 - SLC22A14 Q9Y267 VAR_055116 p.Pro560Arg Polymorphism rs240033 - SLC22A15 Q8IZD6 VAR_043813 p.Pro349Gln Polymorphism rs17852419 - SLC22A16 Q86VW1 VAR_038930 p.His49Arg Polymorphism rs714368 - SLC22A16 Q86VW1 VAR_038931 p.Val252Ala Polymorphism rs723685 - SLC22A16 Q86VW1 VAR_038932 p.Met409Thr Polymorphism rs12210538 - SLC22A16 Q86VW1 VAR_038933 p.Val431Ile Polymorphism rs35948062 - SLC22A18A Q8N1D0 VAR_024064 p.Gly133Arg Polymorphism rs441071 - SLC22A18 Q96BI1 VAR_024061 p.Arg86Cys Unclassified - A rhabdomyosarcoma sample SLC22A18 Q96BI1 VAR_024062 p.Ser233Phe Disease - Lung cancer (LNCR) [MIM:211980] SLC22A18 Q96BI1 VAR_024063 p.Arg309Gln Polymorphism - - SLC22A18 Q96BI1 VAR_055406 p.Ala6Thr Polymorphism rs1048046 - SLC22A18 Q96BI1 VAR_055407 p.Arg12Gln Polymorphism rs1048047 - SLC22A18 Q96BI1 VAR_055408 p.Trp324Cys Polymorphism rs1129782 - SLC22A1 O15245 VAR_043319 p.Ser14Phe Polymorphism rs34447885 - SLC22A1 O15245 VAR_043320 p.Phe41Leu Polymorphism rs2297373 - SLC22A1 O15245 VAR_043321 p.Arg61Cys Polymorphism rs12208357 - SLC22A1 O15245 VAR_043322 p.Leu85Phe Polymorphism rs35546288 - SLC22A1 O15245 VAR_043323 p.Cys88Arg Polymorphism rs55918055 - SLC22A1 O15245 VAR_043324 p.Leu160Phe Polymorphism rs683369 - SLC22A1 O15245 VAR_043325 p.Ser189Leu Unclassified - - SLC22A1 O15245 VAR_043326 p.Gly220Val Unclassified - - SLC22A1 O15245 VAR_043327 p.Pro283Leu Polymorphism rs4646277 - SLC22A1 O15245 VAR_043328 p.Arg287Gly Polymorphism rs4646278 - SLC22A1 O15245 VAR_043329 p.Pro341Leu Polymorphism rs2282143 - SLC22A1 O15245 VAR_043330 p.Arg342His Polymorphism rs34205214 - SLC22A1 O15245 VAR_043331 p.Gly401Ser Polymorphism rs34130495 - SLC22A1 O15245 VAR_043332 p.Met408Val Polymorphism rs628031 - SLC22A1 O15245 VAR_043334 p.Met440Ile Polymorphism rs35956182 - SLC22A1 O15245 VAR_043335 p.Val461Ile Polymorphism rs34295611 - SLC22A1 O15245 VAR_043336 p.Gly465Arg Polymorphism rs34059508 - SLC22A1 O15245 VAR_043337 p.Arg488Met Polymorphism rs35270274 - SLC22A20 A6NK97 VAR_040065 p.Ala58Asp Polymorphism rs11605576 - SLC22A20 A6NK97 VAR_040066 p.Ala139Val Polymorphism rs12420456 - SLC22A25 Q6T423 VAR_042576 p.Ser250Gly Polymorphism rs11231409 - SLC22A25 Q6T423 VAR_042577 p.Arg300Thr Polymorphism rs11231397 - SLC22A25 Q6T423 VAR_057783 p.Arg89Cys Polymorphism rs35722529 - SLC22A25 Q6T423 VAR_057784 p.Gly448Ala Polymorphism rs17157907 - SLC22A25 Q6T423 VAR_060287 p.Met486Val Polymorphism rs6591771 - SLC22A2 O15244 VAR_039322 p.Pro54Ser Polymorphism rs8177504 - SLC22A2 O15244 VAR_039323 p.Met165Ile Unclassified - - SLC22A2 O15244 VAR_039324 p.Thr201Met Polymorphism - - SLC22A2 O15244 VAR_039325 p.Ser270Ala Polymorphism rs316019 - SLC22A2 O15244 VAR_039326 p.Ala297Gly Polymorphism rs8177513 - SLC22A2 O15244 VAR_039327 p.Arg400Cys Polymorphism rs8177516 - SLC22A2 O15244 VAR_039328 p.Lys432Gln Polymorphism rs8177517 - SLC22A2 O15244 VAR_039329 p.Arg463Lys Polymorphism rs3907239 - SLC22A3 O75751 VAR_020351 p.Thr44Met Polymorphism rs8187715 - SLC22A3 O75751 VAR_020352 p.Ala116Ser Polymorphism rs8187717 - SLC22A4 Q9H015 VAR_019528 p.Ile306Thr Polymorphism rs272893 - SLC22A4 Q9H015 VAR_019529 p.Gly462Glu Polymorphism rs4646201 - SLC22A4 Q9H015 VAR_019530 p.Leu503Phe Polymorphism rs1050152 - SLC22A5 O76082 VAR_009252 p.Arg169Gln Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009253 p.Tyr211Cys Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009254 p.Trp283Arg Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009255 p.Val446Phe Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009256 p.Glu452Lys Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_009257 p.Pro478Leu Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_020347 p.Phe17Leu Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_020348 p.Leu144Phe Polymorphism rs10040427 - SLC22A5 O76082 VAR_020349 p.Val481Phe Polymorphism - - SLC22A5 O76082 VAR_020350 p.Pro549Ser Polymorphism rs11568525 - SLC22A5 O76082 VAR_022564 p.Met179Leu Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_022565 p.Trp283Cys Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_022566 p.Ser467Cys Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_029315 p.Tyr449Asp Disease rs11568514 Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_029316 p.Phe508Leu Polymorphism - - SLC22A5 O76082 VAR_029317 p.Met530Val Polymorphism - - SLC22A5 O76082 VAR_036816 p.Val481Ile Polymorphism - - SLC22A5 O76082 VAR_064109 p.Gly12Ser Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064110 p.Gly15Trp Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064111 p.Arg19Pro Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064112 p.Asn32Ser Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064113 p.Pro46Ser Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064114 p.Thr66Pro Unclassified - - SLC22A5 O76082 VAR_064115 p.Arg75Pro Unclassified - - SLC22A5 O76082 VAR_064116 p.Arg83Leu Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064117 p.Gly96Ala Unclassified - - SLC22A5 O76082 VAR_064118 p.Asp122Tyr Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064119 p.Val123Gly Unclassified - - SLC22A5 O76082 VAR_064120 p.Ala142Ser Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064121 p.Pro143Leu Unclassified - - SLC22A5 O76082 VAR_064122 p.Arg169Trp Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064123 p.Met177Val Unclassified - - SLC22A5 O76082 VAR_064124 p.Leu186Pro Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064125 p.Ala214Val Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064126 p.Arg227His Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064127 p.Phe230Leu Unclassified - - SLC22A5 O76082 VAR_064128 p.Thr232Met Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064129 p.Gly234Arg Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064130 p.Ala240Thr Unclassified - - SLC22A5 O76082 VAR_064131 p.Gly242Val Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064132 p.Arg257Trp Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064133 p.Thr264Arg Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064134 p.Arg282Gln Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064135 p.Ala301Asp Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064136 p.Ile312Val Unclassified - - SLC22A5 O76082 VAR_064137 p.Trp351Arg Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064138 p.Ser355Leu Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064139 p.Tyr358Asn Unclassified - - SLC22A5 O76082 VAR_064140 p.Ser362Leu Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064141 p.Pro398Leu Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064142 p.Arg399Gln Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064143 p.Arg399Trp Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064144 p.Thr440Met Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064145 p.Ala442Ile Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064146 p.Phe443Val Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064147 p.Tyr447Cys Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064148 p.Pro455Arg Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064149 p.Thr468Arg Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064150 p.Arg471Cys Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064151 p.Arg488Cys Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A5 O76082 VAR_064152 p.Leu507Ser Disease - Systemic primary carnitine deficiency (CDSP) [MIM:212140] SLC22A6 Q4U2R8 VAR_039682 p.Leu7Pro Polymorphism - - SLC22A6 Q4U2R8 VAR_039683 p.Arg50His Polymorphism rs11568626 - SLC22A6 Q4U2R8 VAR_039684 p.Arg293Trp Polymorphism rs45607933 - SLC22A6 Q4U2R8 VAR_047878 p.Pro104Leu Polymorphism rs11568627 - SLC22A7 Q9Y694 VAR_047875 p.Arg303Lys Polymorphism - - SLC22A7 Q9Y694 VAR_047876 p.Arg327Trp Polymorphism rs36040909 - SLC22A7 Q9Y694 VAR_047877 p.Gly507Val Polymorphism - - SLC22A8 Q8TCC7 VAR_030146 p.Phe129Leu Polymorphism rs11568479 - SLC22A8 Q8TCC7 VAR_030147 p.Arg149Ser Polymorphism rs45566039 - SLC22A8 Q8TCC7 VAR_030148 p.Ile260Arg Polymorphism rs11568493 - SLC22A8 Q8TCC7 VAR_030149 p.Arg277Trp Polymorphism rs11568492 - SLC22A8 Q8TCC7 VAR_030150 p.Val281Ala Polymorphism rs45438191 - SLC22A8 Q8TCC7 VAR_030151 p.Ile305Phe Polymorphism rs11568482 - SLC22A8 Q8TCC7 VAR_030152 p.Ala389Val Polymorphism - - SLC22A8 Q8TCC7 VAR_030153 p.Val448Ile Polymorphism rs11568486 - SLC22A9 Q8IVM8 VAR_036403 p.Ala393Val Unclassified - A breast cancer sample SLC22A9 Q8IVM8 VAR_036404 p.Met487Val Unclassified - A breast cancer sample SLC22A9 Q8IVM8 VAR_036405 p.Asn521Lys Unclassified - A colorectal cancer sample SLC23A1 Q9UHI7 VAR_053451 p.Ile218Val Polymorphism rs34521685 - SLC23A1 Q9UHI7 VAR_053452 p.Met258Val Polymorphism rs35817838 - SLC23A1 Q9UHI7 VAR_053453 p.Val264Met Polymorphism rs33972313 - SLC23A1 Q9UHI7 VAR_062111 p.Ser421Ala Polymorphism rs6596474 - SLC24A1 O60721 VAR_050221 p.Thr37Ser Polymorphism rs3743171 - SLC24A1 O60721 VAR_050222 p.Val311Leu Polymorphism rs34363823 - SLC24A1 O60721 VAR_050223 p.Leu313Val Polymorphism rs35571449 - SLC24A3 Q9HC58 VAR_028024 p.Leu49Pro Polymorphism rs3790174 - SLC24A3 Q9HC58 VAR_028025 p.Val55Ile Polymorphism rs1569767 - SLC24A3 Q9HC58 VAR_028026 p.Val168Ile Polymorphism rs3790267 - SLC24A3 Q9HC58 VAR_028027 p.Gly271Ser Polymorphism rs6136807 - SLC24A4 Q8NFF2 VAR_042664 p.Val613Ile Polymorphism rs4900130 - SLC24A5 Q71RS6 VAR_024922 p.Thr111Ala Polymorphism rs1426654 - SLC24A6 Q6J4K2 VAR_050224 p.Arg222Cys Polymorphism rs16942745 - SLC24A6 Q6J4K2 VAR_050225 p.Leu358Phe Polymorphism rs3764034 - SLC25A12 O75746 VAR_047917 p.Arg473Gln Polymorphism rs35565687 - SLC25A12 O75746 VAR_063253 p.Gln590Arg Disease - Global cerebral hypomyelination (GCHM) [MIM:612949] SLC25A13 Q9UJS0 VAR_016601 p.Glu601Lys Disease - Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814] SLC25A13 Q9UJS0 VAR_050126 p.Glu141Lys Polymorphism rs1131697 - SLC25A13 Q9UJS0 VAR_050127 p.Leu232Ile Polymorphism rs10255762 - SLC25A14 O95258 VAR_050138 p.Glu55Ala Polymorphism rs2143598 - SLC25A15 Q9Y619 VAR_012757 p.Gly27Glu Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_012758 p.Gly27Arg Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_012759 p.Pro126Arg Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_012760 p.Glu180Lys Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_012762 p.Gly190Asp Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_012763 p.Ile254Leu Polymorphism rs17849654 - SLC25A15 Q9Y619 VAR_012764 p.Arg275Gln Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_058948 p.Met37Arg Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_058949 p.Ala70Leu Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_058950 p.Leu71Gln Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_058951 p.Gly113Cys Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_058952 p.Phe188Leu Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_058953 p.Gly216Ser Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_058954 p.Thr272Ile Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_058955 p.Met273Lys Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A15 Q9Y619 VAR_058956 p.Leu283Phe Disease - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] SLC25A17 O43808 VAR_050139 p.His98Arg Polymorphism rs12159334 - SLC25A19 Q9HC21 VAR_014103 p.Gly177Ala Disease - Microcephaly Amish type (MCPHA) [MIM:607196] SLC25A19 Q9HC21 VAR_065125 p.Gly125Ser Disease - Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710] SLC25A20 O43772 VAR_021818 p.Arg133Trp Disease - Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138] SLC25A20 O43772 VAR_021819 p.Asp231His Disease - Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138] SLC25A20 O43772 VAR_021820 p.Gln238Arg Disease rs28934589 Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138] SLC25A21 Q9BQT8 VAR_050131 p.Trp299Cys Polymorphism rs17104991 - SLC25A22 Q9H936 VAR_022737 p.Pro206Leu Disease - Epileptic encephalopathy early infantile type 3 (EIEE3) [MIM:609304] SLC25A26 Q70HW3 VAR_058973 p.Thr208Met Polymorphism rs13874 - SLC25A27 O95847 VAR_050137 p.Ile197Thr Polymorphism rs35884480 - SLC25A2 Q9BXI2 VAR_017248 p.Gly159Cys Polymorphism rs10075302 - SLC25A2 Q9BXI2 VAR_017249 p.Val181Gly Polymorphism rs3749779 - SLC25A2 Q9BXI2 VAR_017250 p.Val226Ile Polymorphism rs3749780 - SLC25A32 Q9H2D1 VAR_050130 p.Arg117His Polymorphism rs17803441 - SLC25A33 Q9BSK2 VAR_032861 p.Leu242Ile Polymorphism rs35819756 - SLC25A37 Q9NYZ2 VAR_043144 p.Ile87Val Polymorphism rs2942194 - SLC25A37 Q9NYZ2 VAR_043145 p.Arg96Gln Polymorphism rs3736032 - SLC25A38 Q96DW6 VAR_032862 p.Arg66Gly Polymorphism rs34127778 - SLC25A38 Q96DW6 VAR_058093 p.Gly130Glu Disease - Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950] SLC25A38 Q96DW6 VAR_058094 p.Arg134His Disease - Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950] SLC25A38 Q96DW6 VAR_058095 p.Arg187Pro Disease - Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950] SLC25A38 Q96DW6 VAR_058096 p.Asp209His Disease - Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950] SLC25A39 Q9BZJ4 VAR_012756 p.Phe247Leu Polymorphism rs2011951 - SLC25A3 Q00325 VAR_032850 p.Gly72Glu Disease - Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773] SLC25A40 Q8TBP6 VAR_032863 p.Thr123Ile Polymorphism rs724665 - SLC25A40 Q8TBP6 VAR_032864 p.Lys186Gln Polymorphism rs3213633 - SLC25A41 Q8N5S1 VAR_050132 p.Gly144Ser Polymorphism rs34488963 - SLC25A41 Q8N5S1 VAR_050133 p.Thr258Ser Polymorphism rs11883242 - SLC25A42 Q86VD7 VAR_032970 p.Ser39Pro Polymorphism rs17854359 - SLC25A42 Q86VD7 VAR_032971 p.Leu312Met Polymorphism rs17854358 - SLC25A43 Q8WUT9 VAR_032865 p.Pro334Leu Polymorphism rs3810755 - SLC25A44 Q96H78 VAR_050134 p.Ser52Ile Polymorphism rs11576750 - SLC25A45 Q8N413 VAR_032866 p.Met224Val Polymorphism rs624307 - SLC25A45 Q8N413 VAR_050135 p.Arg251Gln Polymorphism rs7108281 - SLC25A4 P12235 VAR_012111 p.Ala114Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_012112 p.Val289Met Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_022459 p.Leu98Pro Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_022460 p.Asp104Gly Disease rs28999114 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_038814 p.Ala90Asp Disease - Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] SLC25A4 P12235 VAR_038815 p.Ala123Asp Unclassified - - SLC25A51 Q9H1U9 VAR_036333 p.Thr205Met Unclassified - A breast cancer sample SLC25A52 Q3SY17 VAR_060299 p.Leu239Ile Polymorphism rs3859364 - SLC25A5 P05141 VAR_030039 p.Leu111Arg Polymorphism rs371749 - SLC25A6 P12236 VAR_054819 p.Ser242Phe Polymorphism rs17851235 - SLC26A10 Q8NG04 VAR_045599 p.Met130Thr Polymorphism rs971209 - SLC26A10 Q8NG04 VAR_045600 p.Ala193Thr Polymorphism rs923828 - SLC26A10 Q8NG04 VAR_045601 p.Leu546Val Polymorphism rs774895 - SLC26A10 Q8NG04 VAR_045678 p.Leu270Ser Unclassified - A colorectal cancer sample SLC26A1 Q9H2B4 VAR_046727 p.Gln556Arg Polymorphism rs3796622 - SLC26A2 P50443 VAR_007434 p.Gly255Glu Disease - Atelosteogenesis type 2 (AO2) [MIM:256050] SLC26A2 P50443 VAR_007435 p.Arg279Trp Disease - Atelosteogenesis type 2 (AO2) [MIM:256050] SLC26A2 P50443 VAR_007435 p.Arg279Trp Disease - Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900] SLC26A2 P50443 VAR_007437 p.Asn425Asp Disease - Achondrogenesis type 1B (ACG1B) [MIM:600972] SLC26A2 P50443 VAR_007438 p.Gly678Val Disease - Achondrogenesis type 1B (ACG1B) [MIM:600972] SLC26A2 P50443 VAR_007439 p.Ala715Val Disease - Atelosteogenesis type 2 (AO2) [MIM:256050] SLC26A2 P50443 VAR_007439 p.Ala715Val Disease - Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900] SLC26A2 P50443 VAR_018654 p.Gln454Pro Unclassified - - SLC26A2 P50443 VAR_018655 p.Cys653Ser Disease - Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900] SLC26A2 P50443 VAR_020402 p.Thr689Ser Polymorphism rs3776070 - SLC26A2 P50443 VAR_058415 p.Ile574Thr Polymorphism rs30832 - SLC26A3 P40879 VAR_007428 p.Gly120Ser Disease - Diarrhea type 1 (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_007429 p.His124Leu Disease - Diarrhea type 1 (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_007430 p.Pro131Arg Disease - Diarrhea type 1 (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_007431 p.Cys307Trp Polymorphism rs34407351 - SLC26A3 P40879 VAR_012777 p.Ser206Pro Disease - Diarrhea type 1 (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_012778 p.Asp468Val Disease - Diarrhea type 1 (DIAR1) [MIM:214700] SLC26A3 P40879 VAR_053660 p.Arg68Gln Polymorphism rs10280704 - SLC26A3 P40879 VAR_053661 p.Arg554Gln Polymorphism rs2301635 - SLC26A3 P40879 VAR_053662 p.Asn753Ser Polymorphism rs35342296 - SLC26A4 O43511 VAR_007440 p.Gly209Val Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007440 p.Gly209Val Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007441 p.Leu236Pro Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007441 p.Leu236Pro Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007442 p.Lys369Glu Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007443 p.Ala372Val Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007444 p.Glu384Gly Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007445 p.Thr416Pro Disease rs28939086 Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007445 p.Thr416Pro Disease rs28939086 Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007446 p.Gly497Ser Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007447 p.Phe667Cys Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007448 p.Thr721Met Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007448 p.Thr721Met Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_007449 p.His723Arg Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_007449 p.His723Arg Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_011623 p.Thr193Ile Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_011624 p.Leu445Trp Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_011624 p.Leu445Trp Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021638 p.Arg24Gly Unclassified - - SLC26A4 O43511 VAR_021639 p.Ser28Arg Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021639 p.Ser28Arg Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021640 p.Glu29Gln Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021641 p.Tyr78Cys Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021642 p.Ser90Leu Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021643 p.Gly102Arg Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021644 p.Ala104Val Unclassified - - SLC26A4 O43511 VAR_021645 p.Tyr105Cys Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021646 p.Ala106Asp Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021647 p.Leu117Phe Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021647 p.Leu117Phe Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021648 p.Thr132Ile Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021649 p.Ser133Thr Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021650 p.Ser137Pro Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021651 p.Val138Phe Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021652 p.Gly139Ala Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021653 p.Val239Asp Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021653 p.Val239Asp Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021654 p.Ser252Pro Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021655 p.Asp271His Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021656 p.Phe335Leu Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021656 p.Phe335Leu Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021657 p.Ser391Asn Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021658 p.Asn392Tyr Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021659 p.Arg409His Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021660 p.Arg409Pro Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021661 p.Thr410Met Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021661 p.Thr410Met Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021662 p.Ala411Pro Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021663 p.Gln421Arg Unclassified - - SLC26A4 O43511 VAR_021665 p.Gln446Arg Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021665 p.Gln446Arg Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021666 p.Ile455Phe Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021667 p.Asn457Lys Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021668 p.Val480Asp Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021669 p.Ile490Leu Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021670 p.Tyr530His Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021671 p.Ser552Ile Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021672 p.Tyr556Cys Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021673 p.Tyr556His Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021674 p.Cys565Tyr Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021675 p.Leu597Ser Polymorphism rs55638457 - SLC26A4 O43511 VAR_021676 p.Val653Ala Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021677 p.Gly672Glu Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021678 p.Leu676Gln Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_021679 p.Phe683Ser Unclassified - - SLC26A4 O43511 VAR_021680 p.Ser694Pro Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_021681 p.Asp724Asn Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_027238 p.Pro123Ser Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_027239 p.Met147Val Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_027240 p.Thr508Asn Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_027241 p.Gln514Arg Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_027242 p.Tyr530Ser Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_027242 p.Tyr530Ser Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_027243 p.Val609Gly Polymorphism rs17154335 - SLC26A4 O43511 VAR_027244 p.Ser666Phe Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_027245 p.Gly740Ser Polymorphism rs17154353 - SLC26A4 O43511 VAR_027246 p.Arg776Cys Unclassified - - SLC26A4 O43511 VAR_053663 p.Pro301Leu Polymorphism rs34373141 - SLC26A4 O43511 VAR_053664 p.Asn324Tyr Polymorphism rs36039758 - SLC26A4 O43511 VAR_053665 p.Asp687Tyr Polymorphism rs35548413 - SLC26A4 O43511 VAR_058580 p.Val402Met Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_058580 p.Val402Met Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_058581 p.Met775Thr Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_058581 p.Met775Thr Disease - Pendred syndrome (PDS) [MIM:274600] SLC26A4 O43511 VAR_064988 p.Gly6Val Polymorphism rs111033423 - SLC26A4 O43511 VAR_064989 p.Thr99Met Polymorphism - - SLC26A4 O43511 VAR_064990 p.Val144Ala Unclassified - - SLC26A4 O43511 VAR_064991 p.Arg185Thr Unclassified - - SLC26A4 O43511 VAR_064992 p.Val281Ile Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A4 O43511 VAR_064993 p.Asn558Lys Disease - Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] SLC26A6 Q9BXS9 VAR_012776 p.Val206Met Polymorphism rs13324142 - SLC26A7 Q8TE54 VAR_053666 p.Ile215Val Polymorphism rs16912250 - SLC26A7 Q8TE54 VAR_053667 p.Val381Gly Polymorphism rs34921316 - SLC26A8 Q96RN1 VAR_039464 p.Val73Met Polymorphism rs743923 - SLC26A8 Q96RN1 VAR_039465 p.Ile148Val Polymorphism rs17713154 - SLC26A8 Q96RN1 VAR_039466 p.Ser230Asn Polymorphism rs17707331 - SLC26A8 Q96RN1 VAR_039467 p.Ile639Val Polymorphism rs2295852 - SLC26A9 Q7LBE3 VAR_039801 p.Val744Met Polymorphism rs3811428 - SLC26A9 Q7LBE3 VAR_039802 p.His748Arg Polymorphism rs16856462 - SLC27A2 O14975 VAR_046533 p.Lys48Gln Polymorphism rs1648348 - SLC27A3 Q5K4L6 VAR_048241 p.Gly110Ala Polymorphism rs34527123 - SLC27A3 Q5K4L6 VAR_048242 p.Arg439His Polymorphism rs35102232 - SLC27A4 Q6P1M0 VAR_023783 p.Gly209Ser Polymorphism rs2240953 - SLC27A4 Q6P1M0 VAR_063192 p.Ala92Thr Disease - Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A4 Q6P1M0 VAR_063193 p.Ser247Pro Disease - Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A4 Q6P1M0 VAR_063194 p.Gln300Arg Disease - Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A4 Q6P1M0 VAR_063195 p.Arg583His Disease - Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A4 Q6P1M0 VAR_064500 p.Arg374Cys Disease - Ichthyosis prematurity syndrome (IPS) [MIM:608649] SLC27A5 Q9Y2P5 VAR_048243 p.Met50Thr Polymorphism rs35350976 - SLC27A5 Q9Y2P5 VAR_048244 p.Arg53Trp Polymorphism rs34415062 - SLC27A6 Q9Y2P4 VAR_048245 p.Leu19Val Polymorphism rs2526247 - SLC28A1 O00337 VAR_009499 p.Glu34Gly Unclassified - - SLC28A1 O00337 VAR_009501 p.Val189Ile Polymorphism rs2290272 - SLC28A1 O00337 VAR_009502 p.Asn409Ser Unclassified - - SLC28A1 O00337 VAR_009503 p.Asp521Asn Polymorphism rs2242046 - SLC28A1 O00337 VAR_057194 p.Ala190Ser Polymorphism rs45523532 - SLC28A1 O00337 VAR_057195 p.Gln237Lys Polymorphism rs8187758 - SLC28A1 O00337 VAR_057196 p.Arg510Cys Polymorphism rs2242047 - SLC28A1 O00337 VAR_061802 p.Ser546Pro Polymorphism rs45584739 - SLC28A2 O43868 VAR_022001 p.Leu163Trp Polymorphism rs2271437 - SLC28A2 O43868 VAR_024639 p.Pro22Leu Polymorphism rs11854484 - SLC28A2 O43868 VAR_024640 p.Ser75Arg Polymorphism rs1060896 - SLC28A2 O43868 VAR_024641 p.Ser245Thr Polymorphism rs10519020 - SLC28A2 O43868 VAR_024642 p.Phe355Ser Polymorphism rs17215633 - SLC28A2 O43868 VAR_024643 p.Leu462Phe Polymorphism - - SLC28A2 O43868 VAR_028724 p.Gly509Glu Polymorphism rs9635306 - SLC28A2 O43868 VAR_036817 p.Leu12Pro Polymorphism - - SLC28A2 O43868 VAR_036818 p.Arg142His Polymorphism - - SLC28A2 O43868 VAR_036819 p.Glu172Asp Polymorphism - - SLC28A2 O43868 VAR_036820 p.Glu385Lys Polymorphism - - SLC28A2 O43868 VAR_036821 p.Met612Thr Polymorphism - - SLC28A3 Q9HAS3 VAR_039665 p.Arg4Lys Polymorphism - - SLC28A3 Q9HAS3 VAR_039666 p.Ser5Asn Polymorphism rs11568403 - SLC28A3 Q9HAS3 VAR_039667 p.Asp62His Polymorphism rs45621433 - SLC28A3 Q9HAS3 VAR_039668 p.Arg67Lys Polymorphism - - SLC28A3 Q9HAS3 VAR_039669 p.Tyr113Cys Polymorphism rs10868138 - SLC28A3 Q9HAS3 VAR_039670 p.Leu131Phe Polymorphism - - SLC28A3 Q9HAS3 VAR_039671 p.Pro221Gln Polymorphism rs11140503 - SLC28A3 Q9HAS3 VAR_039672 p.Ile328Val Polymorphism rs11568418 - SLC28A3 Q9HAS3 VAR_039673 p.Arg349Gln Polymorphism rs45525131 - SLC28A3 Q9HAS3 VAR_039674 p.Gly367Arg Unclassified - - SLC28A3 Q9HAS3 VAR_039675 p.Leu418Ile Polymorphism - - SLC28A3 Q9HAS3 VAR_039676 p.Tyr513Phe Polymorphism rs56350726 - SLC28A3 Q9HAS3 VAR_039677 p.Arg585His Polymorphism - - SLC28A3 Q9HAS3 VAR_039678 p.Cys602Arg Unclassified - - SLC29A1 Q99808 VAR_036221 p.Ala293Thr Unclassified - A colorectal cancer sample SLC29A1 Q99808 VAR_036222 p.Ile455Val Unclassified - A colorectal cancer sample SLC29A1 Q99808 VAR_053668 p.Ile216Thr Polymorphism rs45573936 - SLC29A1 Q99808 VAR_053669 p.Glu391Lys Polymorphism rs45458701 - SLC29A2 Q14542 VAR_029289 p.Asp5Tyr Polymorphism rs8187643 - SLC29A2 Q14542 VAR_029290 p.Asn68Lys Polymorphism rs8187644 - SLC29A2 Q14542 VAR_029291 p.Pro94Leu Polymorphism rs8187648 - SLC29A3 Q9BZD2 VAR_018662 p.Arg18Gly Polymorphism rs2277257 - SLC29A3 Q9BZD2 VAR_018663 p.Ser158Phe Polymorphism rs780668 - SLC29A3 Q9BZD2 VAR_018664 p.Val239Ile Polymorphism rs2252996 - SLC29A3 Q9BZD2 VAR_018665 p.Ile326Val Polymorphism rs2487068 - SLC29A3 Q9BZD2 VAR_018666 p.Val452Glu Polymorphism rs999940 - SLC29A3 Q9BZD2 VAR_057884 p.Gly427Ser Disease rs121912583 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A3 Q9BZD2 VAR_057885 p.Gly437Arg Disease rs121912584 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] SLC29A4 Q7RTT9 VAR_040044 p.Val79Glu Polymorphism rs17854505 - SLC29A4 Q7RTT9 VAR_040045 p.Asn124Lys Polymorphism rs17855675 - SLC29A4 Q7RTT9 VAR_040046 p.Pro429Thr Polymorphism rs17857336 - SLC2A10 O95528 VAR_024652 p.Thr518Ala Polymorphism rs6018008 - SLC2A10 O95528 VAR_029335 p.Ala206Thr Polymorphism rs2235491 - SLC2A10 O95528 VAR_029535 p.Ser81Arg Disease - Arterial tortuosity syndrome (ATS) [MIM:208050] SLC2A10 O95528 VAR_029536 p.Ala106Ser Polymorphism rs6094438 - SLC2A10 O95528 VAR_029537 p.Ile537Val Polymorphism rs7348121 - SLC2A10 O95528 VAR_042417 p.Arg132Trp Disease - Arterial tortuosity syndrome (ATS) [MIM:208050] SLC2A10 O95528 VAR_042418 p.Gly142Val Disease - Arterial tortuosity syndrome (ATS) [MIM:208050] SLC2A10 O95528 VAR_042419 p.Arg225His Polymorphism rs34295241 - SLC2A10 O95528 VAR_042420 p.Arg231Gln Disease - Arterial tortuosity syndrome (ATS) [MIM:208050] SLC2A10 O95528 VAR_042421 p.Gly246Glu Disease - Arterial tortuosity syndrome (ATS) [MIM:208050] SLC2A10 O95528 VAR_042422 p.Gly426Trp Disease - Arterial tortuosity syndrome (ATS) [MIM:208050] SLC2A10 O95528 VAR_042423 p.Glu437Lys Disease - Arterial tortuosity syndrome (ATS) [MIM:208050] SLC2A10 O95528 VAR_042424 p.Gly445Glu Disease - Arterial tortuosity syndrome (ATS) [MIM:208050] SLC2A11 Q9BYW1 VAR_046704 p.Asp60Asn Polymorphism rs7292659 - SLC2A11 Q9BYW1 VAR_046705 p.Arg232Gln Polymorphism rs9608213 - SLC2A11 Q9BYW1 VAR_046706 p.Ile420Phe Polymorphism rs34096096 - SLC2A11 Q9BYW1 VAR_061881 p.Arg301Gln Polymorphism rs36015336 - SLC2A11 Q9BYW1 VAR_061882 p.Lys469Glu Polymorphism rs60882514 - SLC2A14 Q8TDB8 VAR_059852 p.Gly506Glu Polymorphism rs10845981 - SLC2A1 P11166 VAR_013182 p.Gly91Asp Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013183 p.Arg126His Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013184 p.Arg126Leu Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013185 p.Lys256Glu Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013283 p.Ser66Phe Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013284 p.Glu146Lys Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013285 p.Thr310Ile Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_013286 p.Arg333Trp Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054755 p.Asn34Ile Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_054756 p.Asn34Ser Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054757 p.Arg126Cys Disease - Dystonia 9 (DYT9) [MIM:601042] SLC2A1 P11166 VAR_054757 p.Arg126Cys Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054757 p.Arg126Cys Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_054758 p.Gly130Ser Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054759 p.Arg153Cys Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054761 p.Ala275Thr Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_054763 p.Thr295Met Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_054764 p.Gly314Ser Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065206 p.Asn34Tyr Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065207 p.Arg93Trp Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065208 p.Ser95Ile Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065209 p.Met96Val Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065210 p.Arg153His Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065211 p.Ala155Val Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065212 p.Val165Ile Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065213 p.Arg212Cys Disease - Dystonia 9 (DYT9) [MIM:601042] SLC2A1 P11166 VAR_065213 p.Arg212Cys Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065214 p.Arg212His Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065215 p.Arg223Pro Disease - Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] SLC2A1 P11166 VAR_065216 p.Arg223Trp Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065217 p.Val303Leu Unclassified - - SLC2A1 P11166 VAR_065218 p.Asn317Thr Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065219 p.Ser324Leu Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065220 p.Glu329Gln Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065221 p.Arg333Gln Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065221 p.Arg333Gln Disease - GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] SLC2A1 P11166 VAR_065222 p.Gly382Asp Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065223 p.Ala405Asp Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A1 P11166 VAR_065224 p.Pro485Leu Disease - GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] SLC2A2 P11168 VAR_007169 p.Pro68Leu Polymorphism rs7637863 - SLC2A2 P11168 VAR_014718 p.Val101Ile Polymorphism rs1800572 - SLC2A2 P11168 VAR_014719 p.Thr110Ile Polymorphism rs5400 - SLC2A2 P11168 VAR_014720 p.Leu478Val Polymorphism rs5397 - SLC2A2 P11168 VAR_018650 p.Val197Ile Unclassified - - SLC2A2 P11168 VAR_018651 p.Leu389Pro Disease - Fanconi-Bickel syndrome (FBS) [MIM:227810] SLC2A2 P11168 VAR_018652 p.Pro417Leu Disease - Fanconi-Bickel syndrome (FBS) [MIM:227810] SLC2A2 P11168 VAR_018653 p.Val423Glu Disease rs28928874 Fanconi-Bickel syndrome (FBS) [MIM:227810] SLC2A2 P11168 VAR_052501 p.Ile404Thr Polymorphism rs2229608 - SLC2A3 P11169 VAR_052502 p.Val85Leu Polymorphism rs17728193 - SLC2A4 P14672 VAR_007170 p.Val383Ile Disease - Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853] SLC2A4 P14672 VAR_007171 p.Ile385Thr Polymorphism - - SLC2A4 P14672 VAR_012060 p.Thr78Ser Polymorphism rs5434 - SLC2A4 P14672 VAR_020336 p.Ala358Val Polymorphism rs8192702 - SLC2A4 P14672 VAR_052503 p.Ser55Arg Polymorphism rs35198331 - SLC2A4RG Q9NR83 VAR_025005 p.Glu233Asp Polymorphism rs8957 - SLC2A6 Q9UGQ3 VAR_025426 p.Thr500Met Polymorphism rs3094378 - SLC2A7 Q6PXP3 VAR_052504 p.Val135Ile Polymorphism rs34545462 - SLC2A7 Q6PXP3 VAR_061879 p.Arg261Gln Polymorphism rs12402973 - SLC2A8 Q9NY64 VAR_061880 p.Ile253Thr Polymorphism rs34064803 - SLC2A9 Q9NRM0 VAR_012157 p.Gly25Arg Polymorphism rs2276961 - SLC2A9 Q9NRM0 VAR_012158 p.Val282Ile Polymorphism rs16890979 - SLC2A9 Q9NRM0 VAR_012159 p.Pro350Leu Polymorphism rs2280205 - SLC2A9 Q9NRM0 VAR_020337 p.Arg294His Polymorphism rs3733591 - SLC2A9 Q9NRM0 VAR_045648 p.Ser22Asn Polymorphism - - SLC2A9 Q9NRM0 VAR_045649 p.Glu191Asp Polymorphism - - SLC2A9 Q9NRM0 VAR_045650 p.Gly216Arg Polymorphism - - SLC2A9 Q9NRM0 VAR_045651 p.Thr275Met Polymorphism - - SLC2A9 Q9NRM0 VAR_045652 p.Asp281His Polymorphism - - SLC2A9 Q9NRM0 VAR_045653 p.Arg300His Polymorphism - - SLC30A8 Q8IWU4 VAR_031258 p.Arg325Gln Polymorphism rs16889462 - SLC30A8 Q8IWU4 VAR_031259 p.Arg325Trp Polymorphism rs13266634 - SLC30A9 Q6PML9 VAR_052003 p.Met50Val Polymorphism rs1047626 - SLC30A9 Q6PML9 VAR_052004 p.Thr97Ala Polymorphism rs2581423 - SLC30A9 Q6PML9 VAR_052005 p.Leu353Ser Polymorphism rs1801962 - SLC31A1 O15431 VAR_029338 p.Pro25Ala Polymorphism rs2233915 - SLC32A1 Q9H598 VAR_048121 p.Ser423Gly Polymorphism rs34517228 - SLC33A1 O00400 VAR_035776 p.Val400Ala Unclassified - A colorectal cancer sample SLC33A1 O00400 VAR_050631 p.Asp171Gly Polymorphism rs3804769 - SLC33A1 O00400 VAR_054850 p.Ser113Arg Disease - Spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539] SLC34A1 Q06495 VAR_024765 p.Ala48Phe Disease - Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286] SLC34A1 Q06495 VAR_024766 p.Val147Met Disease - Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286] SLC34A2 O95436 VAR_030677 p.Gly106Arg Disease - Pulmonary alveolar microlithiasis (PALM) [MIM:265100] SLC34A2 O95436 VAR_030678 p.Asp634Gly Polymorphism rs6448389 - SLC34A2 O95436 VAR_034156 p.Val45Ala Polymorphism rs35426730 - SLC34A3 Q8N130 VAR_025706 p.Arg67His Polymorphism rs34372115 - SLC34A3 Q8N130 VAR_025707 p.Ser138Phe Disease - Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025708 p.Gly180Ala Polymorphism rs35643193 - SLC34A3 Q8N130 VAR_025709 p.Ser192Leu Disease - Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025710 p.Gly196Arg Disease - Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025711 p.Asp237Asn Polymorphism - - SLC34A3 Q8N130 VAR_025712 p.Gly337Ser Polymorphism rs35699762 - SLC34A3 Q8N130 VAR_025713 p.Arg353Leu Disease - Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025714 p.Ala413Glu Disease - Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025715 p.Arg468Trp Disease - Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] SLC34A3 Q8N130 VAR_025716 p.Glu513Val Polymorphism rs28542318 - SLC35A2 P78381 VAR_036579 p.Trp252Cys Unclassified - A breast cancer sample SLC35A5 Q9BS91 VAR_036945 p.Asn247Ile Polymorphism rs17849939 - SLC35B1 P78383 VAR_023778 p.Arg81His Polymorphism rs1135034 - SLC35B2 Q8TB61 VAR_022657 p.Leu342Val Polymorphism rs3734707 - SLC35C1 Q96A29 VAR_012347 p.Arg147Cys Disease rs28939087 Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265] SLC35C1 Q96A29 VAR_012348 p.Thr308Arg Disease rs28937886 Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265] SLC35C1 Q96A29 VAR_057302 p.Trp49Ser Polymorphism rs11538193 - SLC35C1 Q96A29 VAR_057303 p.Ile240Val Polymorphism rs7130656 - SLC35D1 Q9NTN3 VAR_042729 p.Ala82Thr Polymorphism rs10157422 - SLC35D2 Q76EJ3 VAR_037653 p.Ala184Ser Polymorphism rs1051763 - SLC35F3 Q8IY50 VAR_036700 p.Ser231Cys Polymorphism rs17853780 - SLC35G2 Q8TBE7 VAR_026907 p.Lys400Arg Polymorphism rs1052618 - SLC35G4 P0C7Q5 VAR_061556 p.Thr104Ala Polymorphism rs8087447 - SLC35G5 Q96KT7 VAR_059579 p.Gly46Asp Polymorphism rs6990563 - SLC35G5 Q96KT7 VAR_059580 p.Leu307Pro Polymorphism rs12681991 - SLC35G6 P0C7Q6 VAR_044335 p.Ala51Thr Polymorphism rs3760422 - SLC35G6 P0C7Q6 VAR_044336 p.Pro251Leu Polymorphism rs4491591 - SLC35G6 P0C7Q6 VAR_059581 p.Ala263Thr Polymorphism rs7209977 - SLC36A1 Q7Z2H8 VAR_048122 p.Phe362Leu Polymorphism rs9687945 - SLC36A2 Q495M3 VAR_039887 p.Ala445Val Polymorphism rs10042608 - SLC36A2 Q495M3 VAR_064795 p.Gly87Val Disease - Hyperglycinuria (HG) [MIM:138500] SLC36A2 Q495M3 VAR_064795 p.Gly87Val Disease - Iminoglycinuria (IG) [MIM:242600] SLC36A3 Q495N2 VAR_040006 p.Lys167Glu Polymorphism rs978012 - SLC36A3 Q495N2 VAR_040007 p.Pro185Ser Polymorphism rs12520516 - SLC36A3 Q495N2 VAR_040008 p.Arg190His Polymorphism rs17660042 - SLC36A3 Q495N2 VAR_040009 p.Glu415Asp Polymorphism rs13155282 - SLC36A3 Q495N2 VAR_040010 p.Ser421Phe Polymorphism rs13155520 - SLC36A4 Q6YBV0 VAR_036791 p.Leu209Ile Polymorphism rs17854446 - SLC36A4 Q6YBV0 VAR_036792 p.Pro376His Polymorphism rs17854445 - SLC36A4 Q6YBV0 VAR_036793 p.Leu429Ile Polymorphism rs17854443 - SLC37A1 P57057 VAR_017110 p.Asp247Asn Polymorphism - - SLC37A1 P57057 VAR_017111 p.Val414Ile Polymorphism rs228104 - SLC37A2 Q8TED4 VAR_036794 p.Gly268Ser Polymorphism rs34485243 - SLC37A2 Q8TED4 VAR_061803 p.Ile96Val Polymorphism rs55752830 - SLC37A4 O43826 VAR_003184 p.Gly149Glu Disease rs193302892 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_003185 p.Gly339Cys Disease rs80356490 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_007850 p.Trp118Arg Disease rs80356489 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_016840 p.Arg28His Disease rs121908978 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025581 p.Gly20Asp Disease rs193302881 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025582 p.Tyr24His Disease rs193302887 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025583 p.Asn27Lys Disease rs193302889 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025584 p.Arg28Cys Disease rs193302882 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025585 p.Gly50Arg Disease rs193302894 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025586 p.Ser54Arg Disease rs193302898 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025587 p.Ser55Arg Disease rs193302884 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025588 p.Gly68Arg Disease rs193302885 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025589 p.Leu85Pro Disease rs193302899 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025590 p.Gly88Asp Disease rs193302886 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025591 p.Gln133Pro Disease rs193302896 Glycogen storage disease type 1C (GSD1C) [MIM:232240] SLC37A4 O43826 VAR_025592 p.Gly150Arg Disease rs193302883 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025593 p.Pro153Leu Disease rs193302890 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025594 p.Cys176Arg Disease rs193302895 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025595 p.Cys183Arg Disease rs193302893 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025596 p.Asn198Ile Polymorphism rs34203644 - SLC37A4 O43826 VAR_025597 p.Leu229Pro Disease rs193302902 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025598 p.Ile278Asn Disease rs193302900 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025599 p.Arg300His Disease rs193302903 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025600 p.His301Pro Disease rs193302891 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025601 p.Gly339Asp Disease rs121908980 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025602 p.Ala367Thr Disease rs80356492 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025603 p.Ala373Asp Disease rs193302901 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC37A4 O43826 VAR_025604 p.Gly376Ser Disease rs193302897 Glycogen storage disease type 1C (GSD1C) [MIM:232240] SLC37A4 O43826 VAR_032113 p.Pro191Leu Disease rs193302888 Glycogen storage disease type 1B (GSD1B) [MIM:232220] SLC38A10 Q9HBR0 VAR_038927 p.Ala831Gly Polymorphism rs2725405 - SLC38A10 Q9HBR0 VAR_048126 p.Lys559Arg Polymorphism rs35546507 - SLC38A11 Q08AI6 VAR_039981 p.Ala194Thr Polymorphism rs4564790 - SLC38A2 Q96QD8 VAR_037235 p.Asn48Lys Polymorphism rs11183450 - SLC38A4 Q969I6 VAR_048123 p.Gly29Arg Polymorphism rs2429467 - SLC38A4 Q969I6 VAR_048124 p.Thr366Met Polymorphism rs11183610 - SLC38A5 Q8WUX1 VAR_037396 p.Met451Thr Polymorphism rs17281188 - SLC38A6 Q8IZM9 VAR_037247 p.Leu70Met Polymorphism rs976272 - SLC38A7 Q9NVC3 VAR_039015 p.Leu46Pro Polymorphism rs7193572 - SLC38A7 Q9NVC3 VAR_039016 p.Thr78Ile Polymorphism rs7191331 - SLC38A8 A6NNN8 VAR_048125 p.Ser220Thr Polymorphism rs11862366 - SLC38A9 Q8NBW4 VAR_042546 p.Ser182Thr Polymorphism rs4865615 - SLC39A10 Q9ULF5 VAR_034658 p.Thr87Ser Polymorphism rs13419724 - SLC39A11 Q8N1S5 VAR_036812 p.Thr111Ala Polymorphism rs2466517 - SLC39A12 Q504Y0 VAR_037516 p.Ser36Gly Polymorphism rs10764176 - SLC39A12 Q504Y0 VAR_037517 p.Thr244Met Polymorphism rs7899328 - SLC39A12 Q504Y0 VAR_037518 p.Val304Ile Polymorphism rs2478568 - SLC39A12 Q504Y0 VAR_037519 p.Phe435Leu Polymorphism rs11011935 - SLC39A12 Q504Y0 VAR_037520 p.Pro471Thr Unclassified - A breast cancer sample SLC39A13 Q96H72 VAR_037484 p.Glu28Gly Polymorphism rs2010519 - SLC39A13 Q96H72 VAR_037485 p.Pro346Leu Polymorphism rs35978122 - SLC39A14 Q15043 VAR_037450 p.Leu33Pro Polymorphism rs896378 - SLC39A2 Q9NP94 VAR_020265 p.Met80Val Polymorphism rs2234634 - SLC39A2 Q9NP94 VAR_020266 p.Gly129Glu Polymorphism rs6413532 - SLC39A2 Q9NP94 VAR_020267 p.His154Tyr Polymorphism rs2234637 - SLC39A2 Q9NP94 VAR_055452 p.Phe115Leu Polymorphism rs2234636 - SLC39A2 Q9NP94 VAR_057480 p.Leu48Pro Polymorphism rs2234633 - SLC39A3 Q9BRY0 VAR_037599 p.Phe100Leu Polymorphism rs11539244 - SLC39A3 Q9BRY0 VAR_037600 p.Pro257Leu Polymorphism rs35594294 - SLC39A4 Q6P5W5 VAR_023627 p.Ala58Thr Polymorphism rs2280838 - SLC39A4 Q6P5W5 VAR_023628 p.Pro84Leu Unclassified - - SLC39A4 Q6P5W5 VAR_023629 p.Arg95Cys Disease - Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023630 p.Asn106Lys Disease - Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023631 p.Ala114Thr Polymorphism rs17855765 - SLC39A4 Q6P5W5 VAR_023632 p.Pro200Leu Disease - Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023633 p.Arg251Trp Unclassified rs2977838 - SLC39A4 Q6P5W5 VAR_023634 p.Gln303His Disease - Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023635 p.Cys309Tyr Unclassified - - SLC39A4 Q6P5W5 VAR_023636 p.Gly330Asp Disease - Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023637 p.Thr357Ala Polymorphism rs2272662 - SLC39A4 Q6P5W5 VAR_023638 p.Leu372Pro Disease - Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023639 p.Gly374Arg Disease - Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023640 p.Leu410Pro Unclassified - - SLC39A4 Q6P5W5 VAR_023641 p.Gly526Arg Disease - Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_023642 p.Gly630Arg Disease - Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] SLC39A4 Q6P5W5 VAR_057481 p.Thr158Met Polymorphism rs1871533 - SLC39A4 Q6P5W5 VAR_057482 p.Glu284Lys Polymorphism rs7823979 - SLC39A4 Q6P5W5 VAR_057483 p.Leu372Val Polymorphism rs1871534 - SLC39A4 Q6P5W5 VAR_060487 p.Ala22Glu Polymorphism rs2280839 - SLC39A4 Q6P5W5 VAR_060488 p.Leu378Val Polymorphism rs4483198 - SLC39A6 Q13433 VAR_059964 p.Glu119Asp Polymorphism rs1789528 - SLC39A7 Q92504 VAR_050034 p.Asp87Asn Polymorphism rs34211188 - SLC39A7 Q92504 VAR_050035 p.Gly124Arg Polymorphism rs35690712 - SLC39A7 Q92504 VAR_050036 p.Glu280Gly Polymorphism rs1048778 - SLC39A8 Q9C0K1 VAR_037551 p.Ala391Thr Polymorphism rs13107325 - SLC39A9 Q9NUM3 VAR_034648 p.Glu64Asp Polymorphism rs2296723 - SLC39A9 Q9NUM3 VAR_034649 p.Met221Thr Polymorphism rs2232059 - SLC39A9 Q9NUM3 VAR_034650 p.Arg285Cys Polymorphism rs17855898 - SLC3A1 Q07837 VAR_011420 p.Pro128Gln Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011421 p.Arg181Gln Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011422 p.Glu268Lys Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011423 p.Thr341Ala Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011424 p.Arg365Trp Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011425 p.Arg452Trp Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011426 p.Tyr461His Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011427 p.Met467Thr Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011428 p.Met467Lys Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011429 p.Tyr582His Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011430 p.Pro615Thr Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011431 p.Met618Ile Polymorphism rs698761 - SLC3A1 Q07837 VAR_011432 p.Phe648Ser Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011433 p.Thr652Arg Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_011434 p.Leu678Pro Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_022600 p.Thr216Met Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_022601 p.Arg362Cys Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_022602 p.Pro508Ala Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038200 p.Tyr151Cys Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038201 p.Asn253Lys Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038202 p.Arg362His Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038203 p.Gly398Arg Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038204 p.Gly481Val Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038205 p.Glu482Lys Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038206 p.Gln510Arg Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038207 p.Arg584Thr Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038208 p.Phe599Ser Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_038209 p.Gly600Glu Disease - Cystinuria (CSNU) [MIM:220100] SLC3A1 Q07837 VAR_064040 p.Pro122Ser Disease - Cystinuria (CSNU) [MIM:220100] SLC40A1 Q9NP59 VAR_018980 p.Arg561Gly Polymorphism rs11568346 - SLC40A1 Q9NP59 VAR_020295 p.Gln248His Polymorphism rs11568350 - SLC40A1 Q9NP59 VAR_020296 p.Met432Val Polymorphism rs11568355 - SLC40A1 Q9NP59 VAR_022594 p.Ala77Asp Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_022595 p.Asn144His Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_022596 p.Asp157Gly Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_022598 p.Gln182His Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_022599 p.Gly323Val Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_029299 p.Pro443Leu Polymorphism rs45606432 - SLC40A1 Q9NP59 VAR_030057 p.Tyr64Asn Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030058 p.Gly80Ser Unclassified - - SLC40A1 Q9NP59 VAR_030059 p.Gly80Val Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030060 p.Asn144Asp Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030061 p.Asn144Thr Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030062 p.Asn174Ile Unclassified - - SLC40A1 Q9NP59 VAR_030063 p.Asp181Val Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030064 p.Gly267Asp Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030065 p.Asp270Val Disease - Hemochromatosis type 4 (HFE4) [MIM:606069] SLC40A1 Q9NP59 VAR_030066 p.Cys326Tyr Unclassified - - SLC40A1 Q9NP59 VAR_030067 p.Gly490Asp Unclassified - - SLC41A3 Q96GZ6 VAR_033296 p.Thr62Ala Polymorphism rs4234270 - SLC41A3 Q96GZ6 VAR_046667 p.Val71Met Polymorphism rs11543283 - SLC43A1 O75387 VAR_053670 p.Gly238Val Polymorphism rs17151933 - SLC43A1 O75387 VAR_053671 p.His443Tyr Polymorphism rs34746107 - SLC43A3 Q8NBI5 VAR_035156 p.Pro53Leu Polymorphism rs34799622 - SLC44A1 Q8WWI5 VAR_048837 p.Ser644Ala Polymorphism rs3199966 - SLC44A2 Q8IWA5 VAR_023404 p.Gln154Arg Polymorphism rs2288904 - SLC44A3 Q8N4M1 VAR_023405 p.Val438Ile Polymorphism rs859098 - SLC44A3 Q8N4M1 VAR_064752 p.Gly441Trp Unclassified - - SLC44A4 Q53GD3 VAR_023406 p.Arg6Leu Polymorphism rs2075798 - SLC44A4 Q53GD3 VAR_023407 p.Val187Ile Polymorphism rs2242665 - SLC44A4 Q53GD3 VAR_023408 p.Met326Val Polymorphism rs644827 - SLC44A4 Q53GD3 VAR_023409 p.Arg493Cys Polymorphism rs6915800 - SLC44A4 Q53GD3 VAR_036210 p.Ala347Thr Unclassified - A colorectal cancer sample SLC44A4 Q53GD3 VAR_036211 p.Thr411Met Unclassified - A colorectal cancer sample SLC44A4 Q53GD3 VAR_047020 p.Asp123Val Polymorphism rs12661281 - SLC44A4 Q53GD3 VAR_047021 p.Gly128Glu Polymorphism rs17856465 - SLC45A2 Q9UMX9 VAR_012162 p.Leu374Phe Polymorphism rs16891982 - SLC45A2 Q9UMX9 VAR_022710 p.Pro58Ala Disease - Albinism oculocutaneous type 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022711 p.Pro58Ser Disease - Albinism oculocutaneous type 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022712 p.Asp157Asn Disease - Albinism oculocutaneous type 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022713 p.Gly188Val Disease - Albinism oculocutaneous type 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022714 p.Trp202Cys Disease - Albinism oculocutaneous type 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022716 p.Glu272Lys Polymorphism rs26722 - SLC45A2 Q9UMX9 VAR_022717 p.Tyr317Cys Disease - Albinism oculocutaneous type 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022718 p.Leu361Pro Disease rs28939380 Albinism oculocutaneous type 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022719 p.Ala477Thr Disease - Albinism oculocutaneous type 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022720 p.Ala486Val Disease - Albinism oculocutaneous type 4 (OCA4) [MIM:606574] SLC45A2 Q9UMX9 VAR_022721 p.Thr500Pro Polymorphism rs11568737 - SLC45A2 Q9UMX9 VAR_022722 p.Val507Leu Polymorphism rs3733808 - SLC45A4 Q5BKX6 VAR_043164 p.Pro277Leu Polymorphism rs753778 - SLC45A4 Q5BKX6 VAR_043165 p.Asn718Asp Polymorphism rs3739238 - SLC46A1 Q96NT5 VAR_032825 p.Arg113Ser Disease - Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_032826 p.Gly147Arg Disease rs80338771 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_032827 p.Ser318Arg Disease rs80338772 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_032828 p.Arg376Trp Disease rs80338773 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_032829 p.Pro425Arg Disease rs80338774 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A1 Q96NT5 VAR_050302 p.Thr295Ala Polymorphism rs34552966 - SLC46A1 Q96NT5 VAR_058210 p.Arg113Cys Disease rs80338770 Hereditary folate malabsorption (HFM) [MIM:229050] SLC46A2 Q9BY10 VAR_021050 p.Ala366Val Unclassified - - SLC47A1 Q96FL8 VAR_037587 p.Val338Ile Polymorphism rs35790011 - SLC47A2 Q86VL8 VAR_037358 p.Gly429Arg Polymorphism rs34399035 - SLC4A11 Q8NBS3 VAR_015521 p.Gln408His Polymorphism - - SLC4A11 Q8NBS3 VAR_015522 p.Lys409Asn Polymorphism - - SLC4A11 Q8NBS3 VAR_015523 p.Met483Thr Polymorphism - - SLC4A11 Q8NBS3 VAR_015524 p.Thr708Ala Polymorphism - - SLC4A11 Q8NBS3 VAR_030662 p.Gly464Asp Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_030663 p.Ser489Leu Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_030664 p.Arg755Gln Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_030665 p.Arg869Cys Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_034944 p.Asn150Ser Polymorphism rs34520315 - SLC4A11 Q8NBS3 VAR_034945 p.Ala160Thr Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_034946 p.Ser213Pro Disease - Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] SLC4A11 Q8NBS3 VAR_034947 p.Arg488Lys Disease - Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] SLC4A11 Q8NBS3 VAR_034948 p.Arg804His Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_034949 p.Val824Met Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_034950 p.Thr833Met Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_034951 p.Leu843Pro Disease - Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] SLC4A11 Q8NBS3 VAR_034952 p.Met848Ile Polymorphism rs34224785 - SLC4A11 Q8NBS3 VAR_034953 p.Met856Val Disease - Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] SLC4A11 Q8NBS3 VAR_034954 p.Arg869His Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_047806 p.Asn72Thr Polymorphism - - SLC4A11 Q8NBS3 VAR_047807 p.Met91Val Polymorphism - - SLC4A11 Q8NBS3 VAR_047808 p.Ala327Val Polymorphism - - SLC4A11 Q8NBS3 VAR_047809 p.Glu399Lys Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_047810 p.Thr561Met Polymorphism - - SLC4A11 Q8NBS3 VAR_047811 p.Ser565Leu Polymorphism - - SLC4A11 Q8NBS3 VAR_047812 p.Gly709Glu Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_047813 p.Thr754Met Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_063713 p.Arg125His Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_063714 p.Ala269Val Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_063715 p.Cys386Arg Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_063716 p.Arg755Trp Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_063717 p.Pro773Leu Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_063718 p.Leu873Pro Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_064422 p.Glu167Asp Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064423 p.Arg282Pro Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064424 p.Tyr526Cys Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064425 p.Val575Met Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064426 p.Gly583Asp Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064427 p.Gly742Arg Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064428 p.Gly834Ser Disease - Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] SLC4A11 Q8NBS3 VAR_064978 p.Arg209Trp Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_064979 p.Ser213Leu Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_064980 p.Arg233Cys Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_064981 p.Gly394Arg Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_064982 p.Thr401Lys Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_064983 p.Gly418Asp Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_064984 p.Leu473Arg Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A11 Q8NBS3 VAR_064985 p.Thr584Lys Disease - Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] SLC4A1AP Q9BWU0 VAR_024748 p.Pro139Thr Polymorphism rs9678851 - SLC4A1AP Q9BWU0 VAR_051219 p.Arg181Cys Polymorphism rs9679004 - SLC4A1 P02730 VAR_000798 p.Glu40Lys Polymorphism rs45562031 - SLC4A1 P02730 VAR_000799 p.Lys56Glu Polymorphism rs5036 - SLC4A1 P02730 VAR_000800 p.Pro327Arg Disease rs28931583 Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_000802 p.Arg518Cys Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_000803 p.Pro548Leu Polymorphism - - SLC4A1 P02730 VAR_000804 p.Thr552Ile Polymorphism - - SLC4A1 P02730 VAR_000805 p.Val557Met Polymorphism - - SLC4A1 P02730 VAR_000806 p.Glu658Lys Polymorphism - - SLC4A1 P02730 VAR_000808 p.Pro854Leu Polymorphism rs2285644 - SLC4A1 P02730 VAR_013784 p.Glu90Lys Disease rs28929480 Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013785 p.Gly130Arg Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013786 p.Pro147Ser Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013787 p.Ala285Asp Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013788 p.Arg432Trp Polymorphism - - SLC4A1 P02730 VAR_013789 p.Gly455Glu Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013790 p.Glu480Lys Polymorphism - - SLC4A1 P02730 VAR_013791 p.Val488Met Disease rs28931584 Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013792 p.Arg490Cys Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013793 p.Lys551Asn Polymorphism - - SLC4A1 P02730 VAR_013794 p.Tyr555His Polymorphism - - SLC4A1 P02730 VAR_013795 p.Pro561Ser Polymorphism - - SLC4A1 P02730 VAR_013796 p.Gly565Ala Polymorphism - - SLC4A1 P02730 VAR_013797 p.Pro566Ala Polymorphism - - SLC4A1 P02730 VAR_013798 p.Pro566Ser Polymorphism - - SLC4A1 P02730 VAR_013799 p.Asn569Lys Polymorphism - - SLC4A1 P02730 VAR_013800 p.Arg646Gln Polymorphism - - SLC4A1 P02730 VAR_013801 p.Arg646Trp Polymorphism - - SLC4A1 P02730 VAR_013802 p.Arg656Cys Polymorphism - - SLC4A1 P02730 VAR_013803 p.Arg656His Polymorphism - - SLC4A1 P02730 VAR_013804 p.Leu707Pro Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013805 p.Gly714Arg Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013806 p.Arg760Gln Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013807 p.Arg760Trp Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013808 p.Gly771Asp Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013809 p.Ile783Asn Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013810 p.Arg808Cys Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013811 p.Arg808His Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013812 p.His834Pro Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013813 p.Thr837Ala Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013814 p.Thr837Met Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_013815 p.Pro868Leu Unclassified - - SLC4A1 P02730 VAR_013816 p.Arg870Trp Disease rs28931585 Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_014612 p.Asp38Ala Polymorphism rs5035 - SLC4A1 P02730 VAR_014613 p.Arg112Ser Polymorphism rs5037 - SLC4A1 P02730 VAR_014614 p.Ile442Phe Polymorphism rs5018 - SLC4A1 P02730 VAR_014615 p.Met586Leu Polymorphism rs5019 - SLC4A1 P02730 VAR_014616 p.Ile688Val Polymorphism rs5022 - SLC4A1 P02730 VAR_014617 p.Ser690Gly Polymorphism rs5023 - SLC4A1 P02730 VAR_014618 p.Arg832His Polymorphism rs5025 - SLC4A1 P02730 VAR_014619 p.Val862Ile Polymorphism rs5026 - SLC4A1 P02730 VAR_015104 p.Arg589Cys Disease - Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800] SLC4A1 P02730 VAR_015105 p.Arg589His Disease - Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800] SLC4A1 P02730 VAR_015106 p.Arg589Ser Disease - Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800] SLC4A1 P02730 VAR_015107 p.Ser613Phe Disease - Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800] SLC4A1 P02730 VAR_015108 p.Ala858Asp Disease - Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800] SLC4A1 P02730 VAR_015171 p.Gly701Asp Disease - Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) [MIM:611590] SLC4A1 P02730 VAR_025090 p.Glu508Lys Polymorphism rs45568837 - SLC4A1 P02730 VAR_036693 p.Asp45Glu Polymorphism rs34700496 - SLC4A1 P02730 VAR_039290 p.Glu68Lys Polymorphism rs13306787 - SLC4A1 P02730 VAR_039291 p.Leu73Met Polymorphism - - SLC4A1 P02730 VAR_039292 p.Arg602Pro Disease - Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) [MIM:611590] SLC4A1 P02730 VAR_039293 p.Leu687Pro Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_039294 p.Asp705Tyr Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_039295 p.Ser731Pro Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_039296 p.His734Arg Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_039297 p.Ser773Pro Disease - Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM:611590] SLC4A1 P02730 VAR_058035 p.Pro27His Polymorphism rs55777403 - SLC4A1 P02730 VAR_058036 p.Glu72Asp Polymorphism - - SLC4A1 P02730 VAR_058037 p.Glu429Asp Polymorphism - - SLC4A1 P02730 VAR_058038 p.Gly455Arg Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_058039 p.Arg490His Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_058040 p.Pro561Ala Polymorphism - - SLC4A1 P02730 VAR_058041 p.Gly609Arg Disease - Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800] SLC4A1 P02730 VAR_058042 p.Met663Lys Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A1 P02730 VAR_058043 p.Thr837Arg Disease - Spherocytosis type 4 (SPH4) [MIM:612653] SLC4A2 P04920 VAR_025168 p.Gly26Glu Polymorphism rs2303929 - SLC4A2 P04920 VAR_025169 p.Glu202Val Polymorphism rs2229551 - SLC4A2 P04920 VAR_025170 p.Arg311Trp Polymorphism rs35016052 - SLC4A2 P04920 VAR_025171 p.Leu1204Phe Polymorphism rs34918764 - SLC4A2 P04920 VAR_048349 p.Ser208Thr Polymorphism rs2229552 - SLC4A3 P48751 VAR_055536 p.Ser226Leu Polymorphism rs36068948 - SLC4A3 P48751 VAR_059081 p.His157Pro Polymorphism rs597306 - SLC4A3 P48751 VAR_059082 p.Asp867Ala Polymorphism rs635311 - SLC4A4 Q9Y6R1 VAR_024751 p.Arg342Ser Disease - Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024752 p.Ser471Leu Disease - Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024753 p.Thr529Ser Disease - Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024754 p.Arg554His Disease - Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024755 p.Ala843Val Disease - Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] SLC4A4 Q9Y6R1 VAR_024756 p.Arg925Cys Disease - Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] SLC4A5 Q9BY07 VAR_048350 p.Ser251Asn Polymorphism rs17009792 - SLC4A5 Q9BY07 VAR_061032 p.His253Tyr Polymorphism rs55651232 - SLC4A7 Q9Y6M7 VAR_055317 p.Glu326Lys Polymorphism rs3755652 - SLC4A8 Q2Y0W8 VAR_048351 p.Asp312Ala Polymorphism rs35966334 - SLC4A8 Q2Y0W8 VAR_048352 p.Ile898Val Polymorphism rs12318785 - SLC51A Q86UW1 VAR_042895 p.Val202Ile Polymorphism rs939885 - SLC52A1 Q9NWF4 VAR_028361 p.Gln70Arg Polymorphism rs346822 - SLC52A1 Q9NWF4 VAR_028362 p.Ala271Val Polymorphism rs346821 - SLC52A1 Q9NWF4 VAR_028363 p.Val296Met Polymorphism rs2304445 - SLC52A3 Q9NQ40 VAR_053565 p.Ile74Met Polymorphism rs35655964 - SLC52A3 Q9NQ40 VAR_053566 p.Asp174Gly Polymorphism rs6054614 - SLC52A3 Q9NQ40 VAR_053567 p.Pro267Leu Polymorphism rs3746804 - SLC52A3 Q9NQ40 VAR_053568 p.Thr278Met Polymorphism rs3746803 - SLC52A3 Q9NQ40 VAR_053569 p.Ile303Val Polymorphism rs3746802 - SLC52A3 Q9NQ40 VAR_063694 p.Glu36Lys Disease - Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_063695 p.Arg132Trp Disease - Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_063696 p.Phe224Leu Disease - Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_063698 p.Leu350Met Polymorphism - - SLC52A3 Q9NQ40 VAR_063699 p.Ser411Arg Polymorphism rs910857 - SLC52A3 Q9NQ40 VAR_063700 p.Val413Ala Disease - Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] SLC52A3 Q9NQ40 VAR_063701 p.Phe457Leu Disease - Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] SLC5A10 A0PJK1 VAR_052493 p.Ala522Val Polymorphism rs12604020 - SLC5A11 Q8WWX8 VAR_042896 p.Val182Ala Polymorphism rs11074656 - SLC5A11 Q8WWX8 VAR_042897 p.Phe258Leu Polymorphism rs35993597 - SLC5A11 Q8WWX8 VAR_042898 p.Gln452Arg Polymorphism rs17854935 - SLC5A11 Q8WWX8 VAR_042899 p.Met526Ile Polymorphism - - SLC5A11 Q8WWX8 VAR_052494 p.Thr47Pro Polymorphism rs36048966 - SLC5A11 Q8WWX8 VAR_061877 p.Val539Met Polymorphism rs35038575 - SLC5A12 Q1EHB4 VAR_043703 p.Val510Leu Polymorphism rs12278761 - SLC5A1 P13866 VAR_007168 p.Asp28Asn Disease - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_013630 p.Asp28Gly Disease - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_021502 p.Arg135Trp Disease - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_021503 p.Gly318Arg Disease - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_021504 p.Ala468Val Disease - Congenital glucose/galactose malabsorption (GGM) [MIM:606824] SLC5A1 P13866 VAR_029147 p.Asn51Ser Polymorphism rs17683011 - SLC5A1 P13866 VAR_029148 p.Ala411Thr Polymorphism rs17683430 - SLC5A2 P31639 VAR_019310 p.Asn654Ser Disease - Renal glucosuria (GLYS1) [MIM:233100] SLC5A3 P53794 VAR_061875 p.Thr50Ala Polymorphism rs8129891 - SLC5A3 P53794 VAR_061876 p.Gln566Lys Polymorphism rs4817617 - SLC5A4 Q9NY91 VAR_021997 p.Ala46Thr Polymorphism rs2235171 - SLC5A4 Q9NY91 VAR_052489 p.Thr4Met Polymorphism rs16990065 - SLC5A5 Q92911 VAR_010263 p.Gly93Arg Disease - Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010264 p.Ala102Pro Polymorphism - - SLC5A5 Q92911 VAR_010265 p.Gln267Glu Disease - Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010266 p.Thr354Pro Disease - Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010267 p.Gly395Arg Disease - Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010268 p.Thr536Gln Unclassified - - SLC5A5 Q92911 VAR_010269 p.Gly543Glu Disease - Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] SLC5A5 Q92911 VAR_010270 p.Ser556Gln Unclassified - - SLC5A5 Q92911 VAR_052490 p.Cys298Gly Polymorphism rs8108188 - SLC5A6 Q9Y289 VAR_052491 p.Ser481Phe Polymorphism rs1395 - SLC5A6 Q9Y289 VAR_052492 p.Ser492Asn Polymorphism rs1064845 - SLC5A7 Q9GZV3 VAR_020524 p.Ile89Val Polymorphism rs1013940 - SLC5A8 Q8N695 VAR_057336 p.Val193Ile Polymorphism rs1709189 - SLC5A8 Q8N695 VAR_057337 p.Phe251Val Polymorphism rs11834933 - SLC5A9 Q2M3M2 VAR_043166 p.Val152Met Polymorphism rs212989 - SLC5A9 Q2M3M2 VAR_043167 p.Met207Thr Polymorphism rs12047252 - SLC5A9 Q2M3M2 VAR_043168 p.Ile269Met Polymorphism rs212991 - SLC6A12 P48065 VAR_058704 p.Cys10Arg Polymorphism rs557881 - SLC6A13 Q9NSD5 VAR_011594 p.Val426Ile Polymorphism rs577294 - SLC6A15 Q9H2J7 VAR_052065 p.Ala400Val Polymorphism rs12424429 - SLC6A15 Q9H2J7 VAR_052066 p.Ile603Met Polymorphism rs3782369 - SLC6A16 Q9GZN6 VAR_052067 p.Ser108Arg Polymorphism rs35860981 - SLC6A16 Q9GZN6 VAR_064753 p.Glu236Lys Unclassified - - SLC6A17 Q9H1V8 VAR_061814 p.Ala57Thr Polymorphism rs12737742 - SLC6A18 Q96N87 VAR_027975 p.Cys12Ser Polymorphism rs7728667 - SLC6A18 Q96N87 VAR_027976 p.Thr32Ile Polymorphism rs7705355 - SLC6A18 Q96N87 VAR_027977 p.Pro478Leu Polymorphism rs4073918 - SLC6A18 Q96N87 VAR_057210 p.Ala4Asp Polymorphism rs34469326 - SLC6A18 Q96N87 VAR_064796 p.Gly79Ser Polymorphism - - SLC6A18 Q96N87 VAR_064797 p.Gly496Arg Polymorphism - - SLC6A19 Q695T7 VAR_023314 p.Arg57Cys Disease - Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_023315 p.Asp173Asn Disease - Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_023316 p.Arg240Gln Polymorphism - - SLC6A19 Q695T7 VAR_023317 p.Leu242Pro Disease - Hartnup disorder (HND) [MIM:234500] SLC6A19 Q695T7 VAR_023318 p.Val252Ile Polymorphism rs7732589 - SLC6A19 Q695T7 VAR_023319 p.Glu501Lys Disease - Hartnup disorder (HND) [MIM:234500] SLC6A1 P30531 VAR_055088 p.Pro521Gln Polymorphism rs17855574 - SLC6A20 Q9NP91 VAR_021862 p.Ala9Gly Polymorphism rs2271615 - SLC6A20 Q9NP91 VAR_052068 p.Thr199Met Polymorphism rs17279437 - SLC6A2 P23975 VAR_010022 p.Ala457Pro Disease - Orthostatic intolerance (OI) [MIM:604715] SLC6A2 P23975 VAR_011756 p.Val69Ile Polymorphism rs1805064 - SLC6A2 P23975 VAR_011757 p.Thr99Ile Polymorphism rs1805065 - SLC6A2 P23975 VAR_011758 p.Val245Ile Polymorphism rs1805066 - SLC6A2 P23975 VAR_011759 p.Asn292Thr Polymorphism rs5563 - SLC6A2 P23975 VAR_011760 p.Val356Leu Polymorphism rs5565 - SLC6A2 P23975 VAR_011761 p.Ala369Pro Polymorphism rs5566 - SLC6A2 P23975 VAR_011762 p.Asn375Ser Polymorphism rs5567 - SLC6A2 P23975 VAR_011763 p.Lys463Arg Polymorphism rs5570 - SLC6A2 P23975 VAR_011764 p.Gly478Ser Polymorphism rs1805067 - SLC6A2 P23975 VAR_011765 p.Phe528Cys Polymorphism rs5558 - SLC6A2 P23975 VAR_011766 p.Tyr548His Polymorphism rs5559 - SLC6A2 P23975 VAR_014800 p.Val449Ile Polymorphism rs2234910 - SLC6A2 P23975 VAR_020048 p.Thr283Arg Polymorphism rs45564432 - SLC6A2 P23975 VAR_021861 p.Ile549Thr Polymorphism rs3743788 - SLC6A2 P23975 VAR_029157 p.Asn7Lys Polymorphism rs11568323 - SLC6A3 Q01959 VAR_014180 p.Arg237Gln Polymorphism rs6345 - SLC6A3 Q01959 VAR_036158 p.Gly121Ser Unclassified - A breast cancer sample SLC6A3 Q01959 VAR_036159 p.Arg544Ser Unclassified - A breast cancer sample SLC6A3 Q01959 VAR_063771 p.Leu368Gln Disease - Parkinsonism-dystonia infantile (PKDYS) [MIM:613135] SLC6A3 Q01959 VAR_063772 p.Pro395Leu Disease - Parkinsonism-dystonia infantile (PKDYS) [MIM:613135] SLC6A3 Q01959 VAR_064580 p.Val471Ile Polymorphism rs75916702 - SLC6A4 P31645 VAR_014181 p.Gly56Ala Polymorphism rs6355 - SLC6A4 P31645 VAR_014182 p.Lys605Asn Polymorphism rs6352 - SLC6A4 P31645 VAR_026751 p.Ile425Val Polymorphism - - SLC6A4 P31645 VAR_029158 p.Lys201Asn Polymorphism rs2228673 - SLC6A4 P31645 VAR_036788 p.Ile425Leu Polymorphism rs28914832 - SLC6A4 P31645 VAR_036789 p.Phe465Leu Polymorphism rs28914833 - SLC6A4 P31645 VAR_036790 p.Leu550Val Polymorphism rs28914834 - SLC6A5 Q9Y345 VAR_011591 p.Gln184Arg Polymorphism - - SLC6A5 Q9Y345 VAR_011592 p.Asp463Asn Polymorphism rs1805091 - SLC6A5 Q9Y345 VAR_011593 p.Val751Ala Polymorphism - - SLC6A5 Q9Y345 VAR_036160 p.Val632Glu Unclassified - A breast cancer sample SLC6A5 Q9Y345 VAR_044163 p.Ala89Glu Unclassified - - SLC6A5 Q9Y345 VAR_044164 p.Gly102Ser Polymorphism rs1443547 - SLC6A5 Q9Y345 VAR_044165 p.Phe124Ser Polymorphism rs1443548 - SLC6A5 Q9Y345 VAR_044166 p.Ala132Gly Polymorphism rs34243519 - SLC6A5 Q9Y345 VAR_044167 p.Ala162Gly Polymorphism rs1443549 - SLC6A5 Q9Y345 VAR_044168 p.Leu306Val Disease - Hyperekplexia type 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044169 p.Thr425Met Disease - Hyperekplexia type 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044170 p.Lys457Asn Polymorphism rs3740870 - SLC6A5 Q9Y345 VAR_044171 p.Trp482Cys Disease - Hyperekplexia type 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044172 p.Tyr491Cys Disease - Hyperekplexia type 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044173 p.Tyr499Phe Polymorphism rs7944684 - SLC6A5 Q9Y345 VAR_044174 p.Asn509Ser Disease - Hyperekplexia type 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044175 p.Ser510Arg Disease - Hyperekplexia type 3 (HKPX3) [MIM:614618] SLC6A5 Q9Y345 VAR_044176 p.Gly767Arg Polymorphism rs16906628 - SLC6A6 P31641 VAR_011767 p.Ile17Met Polymorphism rs1042350 - SLC6A6 P31641 VAR_011768 p.Leu18Val Polymorphism rs1042351 - SLC6A6 P31641 VAR_011769 p.Trp236Cys Polymorphism rs1042352 - SLC6A7 Q99884 VAR_011390 p.Leu345Val Polymorphism rs1468564 - SLC6A8 P48029 VAR_020525 p.Gly87Arg Disease - X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] SLC6A8 P48029 VAR_020526 p.Gly381Arg Disease - X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] SLC6A8 P48029 VAR_020527 p.Pro390Leu Disease - X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] SLC6A8 P48029 VAR_020529 p.Pro554Leu Disease - X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] SLC6A8 P48029 VAR_034483 p.Thr164Ser Polymorphism rs642454 - SLC6A8 P48029 VAR_063707 p.Gly132Val Disease - X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] SLC6A8 P48029 VAR_063708 p.Cys337Trp Disease - X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] SLC6A8 P48029 VAR_063709 p.Cys491Trp Disease - X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] SLC6A8 P48029 VAR_063710 p.Met560Val Polymorphism - - SLC7A10 Q9NS82 VAR_014282 p.Glu112Asp Unclassified - - SLC7A10 Q9NS82 VAR_048158 p.Arg413Gln Polymorphism rs34663170 - SLC7A13 Q8TCU3 VAR_042716 p.Val249Met Polymorphism rs2976189 - SLC7A13 Q8TCU3 VAR_042717 p.Arg380Lys Polymorphism rs4419794 - SLC7A13 Q8TCU3 VAR_042718 p.Met452Thr Polymorphism rs9656982 - SLC7A13 Q8TCU3 VAR_042719 p.Glu470Lys Polymorphism rs9693999 - SLC7A14 Q8TBB6 VAR_035417 p.Gly330Arg Polymorphism rs2276717 - SLC7A2 P52569 VAR_030799 p.Val20Met Polymorphism rs12680645 - SLC7A2 P52569 VAR_030800 p.Cys376Phe Polymorphism rs1134975 - SLC7A2 P52569 VAR_030801 p.Ala531Thr Polymorphism rs62622371 - SLC7A2 P52569 VAR_058414 p.Gln547Leu Polymorphism rs1981498 - SLC7A3 Q8WY07 VAR_048154 p.Leu508Val Polymorphism rs6525447 - SLC7A3 Q8WY07 VAR_064754 p.Met356Lys Unclassified - - SLC7A4 O43246 VAR_048155 p.Thr28Ile Polymorphism rs2072550 - SLC7A4 O43246 VAR_048156 p.Ala349Thr Polymorphism rs2270384 - SLC7A4 O43246 VAR_060989 p.Phe608Tyr Polymorphism rs55700350 - SLC7A5 Q01650 VAR_048157 p.Asn230Lys Polymorphism rs1060250 - SLC7A6OS Q96CW6 VAR_032591 p.Val24Met Polymorphism rs35800405 - SLC7A6OS Q96CW6 VAR_032592 p.Gly45Asp Polymorphism rs3803650 - SLC7A6OS Q96CW6 VAR_032593 p.Ser116Ala Polymorphism rs8063446 - SLC7A6OS Q96CW6 VAR_032594 p.Tyr220Cys Polymorphism rs11548855 - SLC7A7 Q9UM01 VAR_010261 p.Gly54Val Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_010262 p.Leu334Arg Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_010999 p.Gly338Asp Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_011000 p.Ser386Arg Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030595 p.Met50Lys Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030596 p.Thr188Ile Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030597 p.Ser238Phe Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030598 p.Arg333Met Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_030599 p.Ser489Pro Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_036609 p.Pro413Ser Unclassified - A breast cancer sample SLC7A7 Q9UM01 VAR_039092 p.Thr5Ile Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039094 p.Ser53Leu Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039095 p.Ala91Val Polymorphism rs11568438 - SLC7A7 Q9UM01 VAR_039096 p.Leu124Pro Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039097 p.Ala140Pro Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039098 p.Phe152Leu Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039099 p.Arg159Cys Polymorphism rs11568437 - SLC7A7 Q9UM01 VAR_039100 p.Lys191Glu Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039101 p.Glu251Asp Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039102 p.Leu261Pro Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A7 Q9UM01 VAR_039103 p.Asn365Tyr Disease - Lysinuric protein intolerance (LPI) [MIM:222700] SLC7A9 P82251 VAR_010256 p.Gly105Arg Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_010257 p.Val170Met Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_010258 p.Ala182Thr Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_010259 p.Gly195Arg Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_010260 p.Gly259Arg Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_014363 p.Ile44Thr Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_014364 p.Pro261Leu Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_014365 p.Ala354Thr Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_015885 p.Val330Met Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_018998 p.Pro52Leu Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_018999 p.Gly63Arg Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019000 p.Trp69Leu Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019001 p.Ala70Val Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019002 p.Thr123Met Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019003 p.Ala126Thr Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019005 p.Ile187Phe Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019007 p.Leu223Met Polymorphism rs1007160 - SLC7A9 P82251 VAR_019008 p.Trp230Arg Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019009 p.Ile241Thr Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019011 p.Arg333Trp Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019012 p.Ser379Arg Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_019013 p.Ala382Thr Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_022603 p.Ala224Val Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_022604 p.Ala331Val Disease - Cystinuria (CSNU) [MIM:220100] SLC7A9 P82251 VAR_048153 p.Val142Ala Polymorphism rs12150889 - SLC8A1 P32418 VAR_014847 p.Glu692Val Polymorphism rs5557 - SLC8A2 Q9UPR5 VAR_050226 p.Val429Leu Polymorphism rs17759929 - SLC8A3 P57103 VAR_036463 p.Glu612Gln Unclassified - A breast cancer sample SLC9A1 P19634 VAR_050231 p.Asn682Lys Polymorphism rs35703140 - SLC9A2 Q9UBY0 VAR_035964 p.Thr299Ser Unclassified - A breast cancer sample SLC9A2 Q9UBY0 VAR_035965 p.Arg806Gln Unclassified - A breast cancer sample SLC9A3 P48764 VAR_060593 p.Cys799Arg Polymorphism rs2247114 - SLC9A3R1 O14745 VAR_034899 p.Leu110Val Disease rs35910969 Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287] SLC9A3R1 O14745 VAR_048021 p.Arg153Gln Disease rs41282065 Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287] SLC9A3R1 O14745 VAR_048022 p.Glu225Lys Disease - Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287] SLC9A4 Q6AI14 VAR_056209 p.Gly116Ser Polymorphism rs17027275 - SLC9A4 Q6AI14 VAR_056210 p.Ile581Val Polymorphism rs6742280 - SLC9A9 Q8IVB4 VAR_022114 p.Ile589Val Polymorphism rs2289491 - SLC9A9 Q8IVB4 VAR_050232 p.Ile540Val Polymorphism rs16853300 - SLC9B1 Q4ZJI4 VAR_061370 p.Gln33His Polymorphism rs2715591 - SLC9B2 Q86UD5 VAR_042751 p.Ile159Thr Polymorphism rs7672710 - SLC9B2 Q86UD5 VAR_042752 p.Val161Ala Polymorphism rs7672707 - SLC9B2 Q86UD5 VAR_042753 p.Phe357Cys Polymorphism rs2276976 - SLC9C1 Q4G0N8 VAR_033324 p.Ile158Val Polymorphism rs9828502 - SLC9C1 Q4G0N8 VAR_033325 p.Ile286Val Polymorphism rs9872691 - SLC9C1 Q4G0N8 VAR_033326 p.Ile348Met Polymorphism rs9809404 - SLC9C1 Q4G0N8 VAR_033327 p.Thr424Ala Polymorphism rs6768523 - SLC9C1 Q4G0N8 VAR_033328 p.Thr705Ile Polymorphism rs4434123 - SLC9C1 Q4G0N8 VAR_033329 p.Gln732Lys Polymorphism rs6781844 - SLC9C1 Q4G0N8 VAR_033330 p.Ser768Ile Polymorphism rs9288938 - SLC9C1 Q4G0N8 VAR_050233 p.Ile364Val Polymorphism rs9809384 - SLC9C1 Q4G0N8 VAR_061369 p.Gly826Ser Polymorphism rs28516377 - SLC9C2 Q5TAH2 VAR_033331 p.Thr481Met Polymorphism rs7551131 - SLC9C2 Q5TAH2 VAR_033332 p.Ala505Gly Polymorphism rs16846206 - SLC9C2 Q5TAH2 VAR_033333 p.Arg934Ser Polymorphism rs17854214 - SLCO1A2 P46721 VAR_020289 p.Asn128Tyr Polymorphism rs11568567 - SLCO1A2 P46721 VAR_020290 p.Asn135Ile Polymorphism rs45502302 - SLCO1A2 P46721 VAR_020291 p.Glu172Asp Polymorphism rs11568563 - SLCO1A2 P46721 VAR_020292 p.Ile355Val Polymorphism rs45628437 - SLCO1A2 P46721 VAR_020293 p.Thr668Ser Polymorphism rs11568557 - SLCO1A2 P46721 VAR_024644 p.Ile13Thr Polymorphism rs10841795 - SLCO1A2 P46721 VAR_036409 p.Val220Ile Unclassified - A colorectal cancer sample SLCO1A2 P46721 VAR_036823 p.Ala187Thr Polymorphism - - SLCO1B1 Q9Y6L6 VAR_015070 p.Phe73Leu Polymorphism rs56101265 - SLCO1B1 Q9Y6L6 VAR_015071 p.Val82Ala Polymorphism rs56061388 - SLCO1B1 Q9Y6L6 VAR_015072 p.Asn130Asp Polymorphism rs2306283 - SLCO1B1 Q9Y6L6 VAR_015073 p.Arg152Lys Polymorphism - - SLCO1B1 Q9Y6L6 VAR_015074 p.Pro155Thr Polymorphism rs11045819 - SLCO1B1 Q9Y6L6 VAR_015075 p.Glu156Gly Unclassified - - SLCO1B1 Q9Y6L6 VAR_015076 p.Val174Ala Polymorphism rs4149056 - SLCO1B1 Q9Y6L6 VAR_015077 p.Leu193Arg Unclassified - - SLCO1B1 Q9Y6L6 VAR_015078 p.Asp241Asn Polymorphism - - SLCO1B1 Q9Y6L6 VAR_015079 p.Ile353Thr Polymorphism rs55901008 - SLCO1B1 Q9Y6L6 VAR_015080 p.Asn432Asp Polymorphism rs56387224 - SLCO1B1 Q9Y6L6 VAR_015081 p.Asp462Gly Polymorphism - - SLCO1B1 Q9Y6L6 VAR_015082 p.Gly488Ala Polymorphism rs59502379 - SLCO1B1 Q9Y6L6 VAR_015083 p.Asp655Gly Polymorphism rs56199088 - SLCO1B1 Q9Y6L6 VAR_015084 p.Glu667Gly Polymorphism rs55737008 - SLCO1B1 Q9Y6L6 VAR_057724 p.Asn151Ser Polymorphism rs2306282 - SLCO1B1 Q9Y6L6 VAR_057725 p.Leu643Phe Polymorphism rs34671512 - SLCO1B1 Q9Y6L6 VAR_060108 p.Ile245Val Polymorphism rs11045852 - SLCO1B3 Q9NPD5 VAR_024645 p.Ser112Ala Polymorphism rs4149117 - SLCO1B3 Q9NPD5 VAR_036410 p.Ile292Met Unclassified - A colorectal cancer sample SLCO1B3 Q9NPD5 VAR_036411 p.Met647Leu Unclassified - A colorectal cancer sample SLCO1B3 Q9NPD5 VAR_053672 p.Met233Ile Polymorphism rs7311358 - SLCO1B3 Q9NPD5 VAR_053673 p.Val560Ala Polymorphism rs12299012 - SLCO1B3 Q9NPD5 VAR_062150 p.Gly256Ala Polymorphism rs60140950 - SLCO2A1 Q92959 VAR_053674 p.Ala396Thr Polymorphism rs34550074 - SLCO2B1 O94956 VAR_020294 p.Ser486Phe Polymorphism rs2306168 - SLCO2B1 O94956 VAR_036412 p.Glu77Lys Unclassified - A breast cancer sample SLCO2B1 O94956 VAR_053675 p.Val201Met Polymorphism rs35199625 - SLCO2B1 O94956 VAR_053676 p.Arg312Gln Polymorphism rs12422149 - SLCO2B1 O94956 VAR_053677 p.Ile392Thr Polymorphism rs1621378 - SLCO3A1 Q9UIG8 VAR_054853 p.Glu294Asp Polymorphism rs1517618 - SLCO4A1 Q96BD0 VAR_053678 p.Arg70Gln Polymorphism rs34419428 - SLCO4A1 Q96BD0 VAR_053679 p.Val78Ile Polymorphism rs1047099 - SLCO5A1 Q9H2Y9 VAR_022041 p.Leu33Phe Polymorphism rs3750266 - SLCO6A1 Q86UG4 VAR_036622 p.Ala27Val Polymorphism rs13190449 - SLCO6A1 Q86UG4 VAR_036623 p.Lys381Arg Polymorphism rs17150488 - SLCO6A1 Q86UG4 VAR_036624 p.Thr654Arg Polymorphism rs10055840 - SLCO6A1 Q86UG4 VAR_053680 p.Pro527Ala Polymorphism rs10073333 - SLFN11 Q7Z7L1 VAR_031492 p.Val121Phe Polymorphism rs12453150 - SLFN11 Q7Z7L1 VAR_031493 p.Asn301Asp Polymorphism rs4796077 - SLFN11 Q7Z7L1 VAR_031494 p.Tyr822Cys Polymorphism rs3803860 - SLFN11 Q7Z7L1 VAR_062186 p.Arg489Leu Polymorphism rs9898983 - SLFN12L Q6IEE8 VAR_043551 p.Leu307Ser Polymorphism rs12451679 - SLFN12L Q6IEE8 VAR_043552 p.Ala405Gly Polymorphism rs2304967 - SLFN12L Q6IEE8 VAR_043553 p.Cys462Tyr Polymorphism rs2304968 - SLFN12L Q6IEE8 VAR_043554 p.Tyr550Ser Polymorphism rs3744372 - SLFN12 Q8IYM2 VAR_031447 p.Ser43Arg Polymorphism rs1849733 - SLFN12 Q8IYM2 VAR_031448 p.Cys168Arg Polymorphism rs2586514 - SLFN12 Q8IYM2 VAR_053877 p.Ser448Pro Polymorphism rs12946189 - SLFN13 Q68D06 VAR_031449 p.Asn4Ser Polymorphism rs12943866 - SLFN13 Q68D06 VAR_031450 p.Ala50Thr Polymorphism rs7216628 - SLFN13 Q68D06 VAR_031451 p.Glu652Lys Polymorphism rs3744371 - SLFN13 Q68D06 VAR_053878 p.Pro433Leu Polymorphism rs16970912 - SLFN13 Q68D06 VAR_053879 p.Asp642Val Polymorphism rs11657183 - SLFN14 P0C7P3 VAR_044177 p.Gln93Arg Polymorphism rs10512472 - SLFN14 P0C7P3 VAR_044178 p.Lys385Glu Polymorphism rs321612 - SLFN14 P0C7P3 VAR_044179 p.Gly870Ser Polymorphism rs1350011 - SLFN14 P0C7P3 VAR_044180 p.Ser880Ile Polymorphism rs1350010 - SLFN14 P0C7P3 VAR_044181 p.Leu905Phe Polymorphism rs9907259 - SLFN14 P0C7P3 VAR_044182 p.Tyr912Phe Polymorphism rs8073060 - SLFN5 Q08AF3 VAR_031445 p.Pro787Leu Polymorphism rs11651240 - SLFN5 Q08AF3 VAR_031446 p.Ala797Val Polymorphism rs2291189 - SLFN5 Q08AF3 VAR_053876 p.Val754Leu Polymorphism rs16970806 - SLFNL1 Q499Z3 VAR_031459 p.Ala30Thr Polymorphism rs1138293 - SLFNL1 Q499Z3 VAR_031460 p.Arg128Ser Polymorphism rs17851964 - SLFNL1 Q499Z3 VAR_031461 p.Arg144Thr Polymorphism rs3738368 - SLIT1 O75093 VAR_049003 p.Pro824Leu Polymorphism rs2817673 - SLIT2 O94813 VAR_018098 p.Ser636Pro Polymorphism - - SLIT2 O94813 VAR_018099 p.Ser1277Phe Polymorphism - - SLIT3 O75094 VAR_020168 p.Glu994Gly Polymorphism rs2305993 - SLIT3 O75094 VAR_021905 p.Arg395Gln Polymorphism rs2288792 - SLIT3 O75094 VAR_024265 p.Gly618Ser Polymorphism rs10036727 - SLIT3 O75094 VAR_049004 p.Val371Ala Polymorphism rs891921 - SLIT3 O75094 VAR_049005 p.Arg810Gln Polymorphism rs36052924 - SLIT3 O75094 VAR_049006 p.Pro1064Ala Polymorphism rs10072243 - SLITRK1 Q96PX8 VAR_027755 p.Leu552Met Polymorphism rs7491932 - SLITRK2 Q9H156 VAR_027756 p.Ser601Pro Polymorphism rs2295336 - SLITRK3 O94933 VAR_027757 p.Ile605Val Polymorphism rs3828419 - SLITRK4 Q8IW52 VAR_036602 p.Val206Ile Unclassified - A colorectal cancer sample SLITRK6 Q9H5Y7 VAR_027758 p.Leu25Phe Polymorphism rs12863734 - SLITRK6 Q9H5Y7 VAR_027759 p.Pro315Arg Polymorphism rs9547378 - SLITRK6 Q9H5Y7 VAR_027760 p.Gln414Arg Polymorphism rs17080147 - SLK Q9H2G2 VAR_041080 p.Gln405Lys Unclassified - A lung adenocarcinoma sample SLK Q9H2G2 VAR_041081 p.Cys552Tyr Polymorphism rs805657 - SLK Q9H2G2 VAR_041082 p.Glu604Gln Unclassified - An ovarian serous carcinoma sample SLK Q9H2G2 VAR_041083 p.Ala658Gly Polymorphism rs56400929 - SLK Q9H2G2 VAR_041084 p.Ile679Thr Polymorphism rs34326537 - SLK Q9H2G2 VAR_041085 p.Lys683Asn Polymorphism rs35389916 - SLK Q9H2G2 VAR_041086 p.Thr697Ile Polymorphism rs3740469 - SLK Q9H2G2 VAR_051666 p.Gly666Glu Polymorphism rs7071400 - SLTM Q9NWH9 VAR_037088 p.Val235Leu Polymorphism rs7175939 - SLU7 O95391 VAR_032598 p.Ile111Val Polymorphism rs17856338 - SLU7 O95391 VAR_032599 p.Met229Thr Polymorphism rs2961944 - SLURP1 P55000 VAR_032871 p.Trp15Arg Disease - Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_032872 p.Arg71His Disease - Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_032873 p.Cys77Arg Disease - Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_032874 p.Gly86Arg Disease rs28937888 Mal de Meleda (MDM) [MIM:248300] SLURP1 P55000 VAR_032875 p.Cys99Tyr Disease - Mal de Meleda (MDM) [MIM:248300] SLX4IP Q5VYV7 VAR_035277 p.Arg317Gln Polymorphism rs6077853 - SLX4 Q8IY92 VAR_019326 p.Pro1122Leu Polymorphism rs714181 - SLX4 Q8IY92 VAR_019327 p.Ser1271Phe Polymorphism rs3810813 - SLX4 Q8IY92 VAR_019729 p.Ala1221Val Polymorphism rs3827530 - SLX4 Q8IY92 VAR_046337 p.Ala1367Thr Polymorphism rs17136464 - SLX4 Q8IY92 VAR_046338 p.Pro1677Ser Polymorphism rs7196345 - SMAD2 Q15796 VAR_011375 p.Arg133Cys Unclassified - A colorectal carcinoma sample SMAD2 Q15796 VAR_011377 p.Leu440Arg Unclassified - A colorectal carcinoma sample SMAD2 Q15796 VAR_011378 p.Pro445His Unclassified - A colorectal carcinoma sample SMAD2 Q15796 VAR_011379 p.Asp450Glu Unclassified - A colorectal carcinoma sample SMAD2 Q15796 VAR_036473 p.Asp300Val Unclassified - A colorectal cancer sample SMAD3 P84022 VAR_036474 p.Pro393Leu Unclassified - A colorectal cancer sample SMAD3 P84022 VAR_052021 p.Ile170Val Polymorphism rs35874463 - SMAD3 P84022 VAR_065578 p.Thr261Ile Disease - Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] SMAD3 P84022 VAR_065579 p.Arg287Trp Disease - Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] SMAD4 Q13485 VAR_011380 p.Asp493His Unclassified rs28936392 Pancreatic carcinoma SMAD4 Q13485 VAR_019571 p.Gly352Arg Disease - Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] SMAD4 Q13485 VAR_019571 p.Gly352Arg Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] SMAD4 Q13485 VAR_019572 p.Arg361Cys Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] SMAD4 Q13485 VAR_019573 p.Gly386Asp Disease rs28936393 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] SMAD4 Q13485 VAR_022833 p.Glu330Gly Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] SMAD4 Q13485 VAR_036475 p.Pro130Ser Unclassified - A colorectal cancer sample SMAD4 Q13485 VAR_036476 p.Asp351Asn Unclassified - A colorectal cancer sample SMAD4 Q13485 VAR_036477 p.Arg361His Unclassified - A colorectal cancer sample SMAD4 Q13485 VAR_052022 p.Trp101Gly Polymorphism rs2229083 - SMAD5-AS1 Q9Y6J3 VAR_020103 p.Lys85Asn Polymorphism rs3764941 - SMAP1 Q8IYB5 VAR_048326 p.Ala212Val Polymorphism rs2273566 - SMAP2 Q8WU79 VAR_048327 p.Ala289Thr Polymorphism rs34845213 - SMARCA1 P28370 VAR_001242 p.Gln656Arg Polymorphism rs1134838 - SMARCA2 P51531 VAR_049501 p.Gly1416Ala Polymorphism rs3793510 - SMARCA2 P51531 VAR_049502 p.Asp1546Glu Polymorphism rs2296212 - SMARCA4 P51532 VAR_028215 p.Val561Glu Polymorphism rs1804579 - SMARCA4 P51532 VAR_028216 p.Met1036Ile Polymorphism rs1801514 - SMARCAD1 Q9H4L7 VAR_028037 p.Ser66Phe Polymorphism rs11723410 - SMARCAD1 Q9H4L7 VAR_028038 p.Leu135Phe Polymorphism rs2664891 - SMARCAD1 Q9H4L7 VAR_028039 p.Arg140Cys Polymorphism rs2632398 - SMARCAD1 Q9H4L7 VAR_028040 p.Ser245Tyr Polymorphism rs3103117 - SMARCAD1 Q9H4L7 VAR_028041 p.Ser247Asn Polymorphism rs11722476 - SMARCAD1 Q9H4L7 VAR_028042 p.Val301Ala Polymorphism rs7439869 - SMARCAD1 Q9H4L7 VAR_028043 p.Pro351Gln Polymorphism rs17854344 - SMARCAD1 Q9H4L7 VAR_028044 p.Val972Ala Polymorphism rs17857297 - SMARCAL1 Q9NZC9 VAR_021363 p.Ala43Thr Polymorphism rs2066524 - SMARCAL1 Q9NZC9 VAR_021364 p.Arg114His Polymorphism rs11555797 - SMARCAL1 Q9NZC9 VAR_021365 p.Tyr206Asp Polymorphism rs5014982 - SMARCAL1 Q9NZC9 VAR_021366 p.Ile207Phe Polymorphism rs6734114 - SMARCAL1 Q9NZC9 VAR_021367 p.Ser315Arg Polymorphism rs2066522 - SMARCAL1 Q9NZC9 VAR_021368 p.Glu377Gln Polymorphism rs2066518 - SMARCAL1 Q9NZC9 VAR_021369 p.Asp424Val Polymorphism rs2066520 - SMARCAL1 Q9NZC9 VAR_021370 p.Ala468Pro Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021371 p.Ile548Asn Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021372 p.Ser579Leu Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021373 p.Arg586Trp Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021374 p.Arg644Trp Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021375 p.Arg645Cys Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021376 p.Lys647Gln Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021377 p.Lys647Thr Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021378 p.Asp649Asn Polymorphism rs2066523 - SMARCAL1 Q9NZC9 VAR_021379 p.Thr705Ile Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021380 p.Thr742Met Polymorphism rs2271336 - SMARCAL1 Q9NZC9 VAR_021381 p.Arg764Gln Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_021382 p.Arg820His Disease - Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] SMARCAL1 Q9NZC9 VAR_036026 p.Leu432Val Unclassified - A breast cancer sample SMARCAL1 Q9NZC9 VAR_038370 p.Ala22Gly Polymorphism rs17851400 - SMARCC1 Q92922 VAR_020883 p.Pro1075His Polymorphism rs3772406 - SMARCD3 Q6STE5 VAR_020884 p.Pro170Ser Polymorphism rs1050101 - SMC1A Q14683 VAR_026529 p.Glu493Ala Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_052438 p.Thr28Pro Polymorphism rs34530151 - SMC1A Q14683 VAR_062786 p.Phe133Val Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062787 p.Glu141Lys Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062788 p.Arg196His Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062791 p.Arg398Gln Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062792 p.Arg496Cys Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062793 p.Arg496His Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062795 p.Arg693Gly Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062796 p.Arg711Trp Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062797 p.Cys781Phe Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062798 p.Arg790Gln Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062799 p.Arg816Gly Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062800 p.Arg1049Gln Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062801 p.Tyr1085Cys Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062802 p.Phe1122Leu Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_062803 p.Arg1123Trp Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_064542 p.Arg711Gln Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1A Q14683 VAR_064543 p.Ile784Thr Disease - Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] SMC1B Q8NDV3 VAR_045913 p.Phe473Val Polymorphism rs136603 - SMC1B Q8NDV3 VAR_045914 p.Leu1050Met Polymorphism rs5764698 - SMC1B Q8NDV3 VAR_057324 p.Arg758Gln Polymorphism rs9614653 - SMC1B Q8NDV3 VAR_057325 p.Ser1008Ala Polymorphism rs16993928 - SMC2 O95347 VAR_047489 p.Glu1009Lys Polymorphism rs4562395 - SMC4 Q9NTJ3 VAR_052439 p.Ser181Arg Polymorphism rs35214835 - SMC4 Q9NTJ3 VAR_052440 p.Asn356Ser Polymorphism rs33999879 - SMC4 Q9NTJ3 VAR_059843 p.Glu415Asp Polymorphism rs2164675 - SMC5 Q8IY18 VAR_029824 p.Val306Ile Polymorphism rs1180116 - SMC5 Q8IY18 VAR_029825 p.Cys308Arg Polymorphism rs1180117 - SMC5 Q8IY18 VAR_061869 p.His682Arg Polymorphism rs11142365 - SMC6 Q96SB8 VAR_029826 p.Ala691Thr Polymorphism rs1065381 - SMC6 Q96SB8 VAR_029827 p.Ile1046Met Polymorphism rs10221907 - SMC6 Q96SB8 VAR_035875 p.Ala292Val Unclassified - A breast cancer sample SMC6 Q96SB8 VAR_052441 p.Arg464Gly Polymorphism rs35195207 - SMC6 Q96SB8 VAR_052442 p.Lys928Gln Polymorphism rs35257753 - SMCHD1 A6NHR9 VAR_042959 p.Val708Ile Polymorphism rs2276092 - SMCHD1 A6NHR9 VAR_042960 p.Lys879Asn Polymorphism rs633422 - SMCHD1 A6NHR9 VAR_051365 p.Ile960Val Polymorphism rs9961682 - SMCR7L Q9NQG6 VAR_037040 p.Gly78Arg Polymorphism rs2272830 - SMCR7L Q9NQG6 VAR_037041 p.Thr89Met Polymorphism rs17001213 - SMCR7L Q9NQG6 VAR_037042 p.Arg169Trp Polymorphism rs2232088 - SMCR7L Q9NQG6 VAR_037043 p.Asp264Asn Polymorphism rs2232091 - SMCR7 Q96C03 VAR_037038 p.Gly324Glu Polymorphism rs12603700 - SMCR7 Q96C03 VAR_037039 p.Arg354Gln Polymorphism rs3751981 - SMCR8 Q8TEV9 VAR_032309 p.Pro524Leu Polymorphism rs8080966 - SMCR8 Q8TEV9 VAR_032310 p.Arg556His Polymorphism rs1563632 - SMCR8 Q8TEV9 VAR_032311 p.Asn636Ser Polymorphism rs12449313 - SMEK2 Q5MIZ7 VAR_057734 p.Ser293Thr Polymorphism rs34999684 - SMEK2 Q5MIZ7 VAR_065187 p.Ile503Val Polymorphism rs2903704 - SMG1 Q96Q15 VAR_041623 p.Ala35Thr Polymorphism - - SMG1 Q96Q15 VAR_041624 p.Arg126Cys Polymorphism - - SMG1 Q96Q15 VAR_041625 p.Ser144Cys Polymorphism - - SMG1 Q96Q15 VAR_041626 p.Asn151Tyr Polymorphism - - SMG1 Q96Q15 VAR_041627 p.Asp160Asn Polymorphism - - SMG1 Q96Q15 VAR_041628 p.Ala167Val Polymorphism - - SMG1 Q96Q15 VAR_041629 p.Asp320Gly Polymorphism - - SMG1 Q96Q15 VAR_041630 p.Gly465Ser Polymorphism - - SMG1 Q96Q15 VAR_041631 p.His546Arg Polymorphism - - SMG1 Q96Q15 VAR_041632 p.Ala588Ser Polymorphism - - SMG1 Q96Q15 VAR_041633 p.Ile612Lys Polymorphism - - SMG1 Q96Q15 VAR_041634 p.Ser753Cys Polymorphism - - SMG1 Q96Q15 VAR_041635 p.Ser809Cys Polymorphism - - SMG1 Q96Q15 VAR_041636 p.Arg812Cys Polymorphism - - SMG1 Q96Q15 VAR_041637 p.Val829Ile Polymorphism - - SMG1 Q96Q15 VAR_041638 p.Asn832Asp Polymorphism - - SMG1 Q96Q15 VAR_041639 p.Ala952Gly Polymorphism - - SMG1 Q96Q15 VAR_041640 p.Asn969Ser Polymorphism - - SMG1 Q96Q15 VAR_041641 p.Phe1016Leu Polymorphism - - SMG1 Q96Q15 VAR_041642 p.Arg1029Gln Polymorphism - - SMG1 Q96Q15 VAR_041643 p.Thr1072Ser Polymorphism - - SMG1 Q96Q15 VAR_041644 p.Asn1103His Polymorphism - - SMG1 Q96Q15 VAR_041645 p.Pro1275Arg Polymorphism - - SMG1 Q96Q15 VAR_041646 p.Gln1292Pro Polymorphism - - SMG1 Q96Q15 VAR_041647 p.Ile1332Val Polymorphism - - SMG1 Q96Q15 VAR_041648 p.Ser1358Pro Polymorphism - - SMG1 Q96Q15 VAR_041649 p.Arg1418Thr Polymorphism - - SMG1 Q96Q15 VAR_041650 p.Ser2171Cys Unclassified - A breast pleomorphic lobular carcinoma sample SMG1 Q96Q15 VAR_041651 p.Gly2258Ser Polymorphism - - SMG1 Q96Q15 VAR_041652 p.Met2345Lys Polymorphism - - SMG1 Q96Q15 VAR_041653 p.Gln2730Glu Polymorphism - - SMG1 Q96Q15 VAR_041654 p.Gly2889Ser Polymorphism - - SMG1 Q96Q15 VAR_041655 p.Pro2899Ala Polymorphism - - SMG1 Q96Q15 VAR_041656 p.Ile3239Thr Unclassified - A breast infiltrating ductal carcinoma sample SMG1 Q96Q15 VAR_041657 p.Lys3583Gln Unclassified - A breast infiltrating ductal carcinoma sample SMG5 Q9UPR3 VAR_030828 p.Asn1004Asp Polymorphism rs17853821 - SMG6 Q86US8 VAR_018499 p.Arg291Pro Polymorphism rs1885986 - SMG6 Q86US8 VAR_018500 p.Lys294Gln Polymorphism rs216195 - SMG6 Q86US8 VAR_018501 p.Asn341Thr Polymorphism rs1885987 - SMG6 Q86US8 VAR_018502 p.Ala972Thr Polymorphism rs903160 - SMG6 Q86US8 VAR_018503 p.His1233Arg Polymorphism rs2273980 - SMG6 Q86US8 VAR_050978 p.Asn575Ser Polymorphism rs34047637 - SMG6 Q86US8 VAR_050979 p.Arg984Cys Polymorphism rs35173108 - SMG6 Q86US8 VAR_061648 p.Glu1189Lys Polymorphism rs58801957 - SMG7 Q92540 VAR_051363 p.Ser627Phe Polymorphism rs34221194 - SMG7 Q92540 VAR_051364 p.Val900Ile Polymorphism rs2298083 - SMG8 Q8ND04 VAR_035137 p.Pro280Leu Polymorphism rs8068240 - SMIM11 P58511 VAR_054066 p.Lys51Arg Polymorphism rs34016792 - SMIM15 Q7Z3B0 VAR_039986 p.Leu23Phe Polymorphism rs4546328 - SMN1 Q16637 VAR_005615 p.Ala2Gly Disease - Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_005615 p.Ala2Gly Disease - Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_005616 p.Ser262Ile Disease - Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_005617 p.Tyr272Cys Disease - Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300] SMN1 Q16637 VAR_005618 p.Thr274Ile Disease - Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_005618 p.Thr274Ile Disease - Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_005619 p.Gly275Ser Disease - Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_005620 p.Gly279Val Disease - Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300] SMN1 Q16637 VAR_007990 p.Gly279Cys Disease - Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_007990 p.Gly279Cys Disease - Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_010051 p.Pro245Leu Disease - Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_034803 p.Asp30Asn Disease - Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_034804 p.Asp44Val Disease - Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_034805 p.Gly95Arg Disease - Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] SMN1 Q16637 VAR_034806 p.Ala111Gly Disease - Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] SMN1 Q16637 VAR_034807 p.Ile116Phe Disease - Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300] SMN1 Q16637 VAR_034808 p.Gln136Glu Disease - Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300] SMN1 Q16637 VAR_034809 p.Ser262Gly Disease - Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] SMOC1 Q9H4F8 VAR_034498 p.Val82Met Polymorphism rs10150925 - SMO Q99835 VAR_007848 p.Trp535Leu Unclassified - Basal cell carcinoma samples SMO Q99835 VAR_007849 p.Arg562Gln Unclassified - Basal cell carcinoma samples SMO Q99835 VAR_037891 p.Asp473His Polymorphism rs17710891 - SMOX Q9NWM0 VAR_019531 p.His522Tyr Polymorphism - - SMOX Q9NWM0 VAR_036546 p.Gln340Lys Unclassified - A breast cancer sample SMOX Q9NWM0 VAR_059114 p.Arg301Pro Polymorphism rs6084654 - SMPD1 P17405 VAR_005058 p.Gly242Arg Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005059 p.Glu246Gln Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005060 p.Leu302Pro Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_005061 p.Met382Ile Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_005061 p.Met382Ile Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005062 p.Asn383Ser Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005063 p.Asn389Thr Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_005064 p.Trp391Gly Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005065 p.Ser436Arg Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_005066 p.Arg496Leu Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_005067 p.Gly577Ser Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_011387 p.Cys157Arg Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_011388 p.Tyr446Cys Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015287 p.Ser248Arg Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015287 p.Ser248Arg Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_015288 p.His319Tyr Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015289 p.Pro371Ser Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_015290 p.His421Tyr Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_015291 p.Phe463Ser Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015292 p.Pro475Leu Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_015292 p.Pro475Leu Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_015293 p.Tyr537His Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_038191 p.Val36Ala Polymorphism rs1050228 - SMPD1 P17405 VAR_054642 p.Val316Glu Polymorphism rs12575136 - SMPD1 P17405 VAR_054643 p.Thr322Ile Polymorphism rs1050233 - SMPD1 P17405 VAR_054644 p.Gly506Arg Polymorphism rs1050239 - SMPD1 P17405 VAR_060870 p.Asp49Val Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060871 p.Cys92Trp Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060872 p.Leu103Pro Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060872 p.Leu103Pro Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060873 p.Val130Ala Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060874 p.Leu137Pro Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060875 p.Gly166Arg Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060876 p.Ile176Asn Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060877 p.Pro184Leu Unclassified - - SMPD1 P17405 VAR_060878 p.Ala196Pro Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060879 p.Arg200Cys Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060880 p.Leu225Met Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060881 p.Leu225Pro Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060882 p.Arg228Cys Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060883 p.Arg228His Unclassified - - SMPD1 P17405 VAR_060884 p.Gly232Asp Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060885 p.Ala241Val Unclassified - - SMPD1 P17405 VAR_060886 p.Trp244Cys Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060887 p.Gly245Ser Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060887 p.Gly245Ser Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060888 p.Glu246Lys Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060889 p.Asp251Glu Unclassified - - SMPD1 P17405 VAR_060890 p.Asp278Ala Unclassified - - SMPD1 P17405 VAR_060891 p.Ala281Thr Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060892 p.Arg289His Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060893 p.Gln292Lys Unclassified - - SMPD1 P17405 VAR_060894 p.Arg294Gln Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060895 p.Tyr313His Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060896 p.Pro323Ala Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060897 p.Pro330Arg Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060898 p.Leu341Pro Unclassified - - SMPD1 P17405 VAR_060899 p.Ala357Asp Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060900 p.Tyr367Cys Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060901 p.Arg376His Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060902 p.Arg376Leu Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060903 p.Ser379Pro Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060905 p.Ala413Val Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060906 p.His421Arg Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060907 p.Cys431Arg Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060908 p.Leu432Pro Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060909 p.Trp435Cys Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060910 p.Leu450Pro Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060911 p.Ala452Val Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060912 p.Gly456Asp Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060913 p.Tyr467Ser Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060914 p.Arg474Trp Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060915 p.Phe480Leu Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060916 p.Ala482Glu Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060917 p.Ala485Val Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060918 p.Thr486Ala Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060919 p.Tyr488Asn Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060920 p.Gly494Ser Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060921 p.Arg496Cys Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060922 p.Arg496His Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060923 p.Ser505Gly Polymorphism - - SMPD1 P17405 VAR_060924 p.His514Gln Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060925 p.Glu515Val Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060926 p.Tyr517Cys Disease - Niemann-Pick disease type A (NPDA) [MIM:257200] SMPD1 P17405 VAR_060927 p.Trp533Arg Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060928 p.Leu549Pro Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060929 p.Asp563Tyr Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060930 p.Lys576Asn Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060932 p.Arg600His Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD1 P17405 VAR_060933 p.Arg600Pro Disease - Niemann-Pick disease type B (NPDB) [MIM:607616] SMPD2 O60906 VAR_024181 p.Arg265Ser Polymorphism rs1476387 - SMPD2 O60906 VAR_050305 p.Pro3Leu Polymorphism rs1048197 - SMPD2 O60906 VAR_050306 p.Val223Ile Polymorphism rs9386806 - SMPDL3A Q92484 VAR_048338 p.His16Tyr Polymorphism rs12523814 - SMPDL3A Q92484 VAR_048339 p.Pro161Ser Polymorphism rs28385609 - SMPDL3B Q92485 VAR_048340 p.Arg381His Polymorphism rs34560878 - SMR3A Q99954 VAR_056989 p.Gly28Arg Polymorphism rs10031844 - SMR3A Q99954 VAR_060392 p.Cys42Arg Polymorphism rs10024123 - SMR3A Q99954 VAR_060393 p.Pro132Leu Polymorphism rs6853742 - SMRP1 Q8NCR6 VAR_034626 p.Pro233Gln Polymorphism rs17852663 - SMTNL2 Q2TAL5 VAR_038498 p.Ala162Thr Polymorphism rs12449695 - SMTNL2 Q2TAL5 VAR_060164 p.Trp251Arg Polymorphism rs9916524 - SMTN P53814 VAR_035657 p.Arg637Gln Unclassified - A colorectal cancer sample SMTN P53814 VAR_035658 p.Ala763Val Unclassified - A colorectal cancer sample SMTN P53814 VAR_038785 p.Gly455Asp Polymorphism rs1064178 - SMTN P53814 VAR_038786 p.Ala547Pro Polymorphism rs3205187 - SMTN P53814 VAR_038787 p.Ala559Val Polymorphism rs5997872 - SMTN P53814 VAR_038788 p.Ala580Thr Polymorphism rs12158015 - SMTN P53814 VAR_062223 p.Arg642Cys Polymorphism rs34292278 - SMUG1 Q53HV7 VAR_023243 p.Gly15Val Polymorphism rs2233920 - SMUG1 Q53HV7 VAR_023244 p.Arg105Trp Polymorphism rs3136389 - SMURF1 Q9HCE7 VAR_052959 p.Ser466Tyr Polymorphism rs13246077 - SMYD1 Q8NB12 VAR_052990 p.Gln164Pro Polymorphism rs1542087 - SMYD2 Q9NRG4 VAR_023442 p.Gly165Glu Polymorphism rs1134647 - SMYD2 Q9NRG4 VAR_052991 p.Ile430Met Polymorphism rs11120301 - SMYD4 Q8IYR2 VAR_025626 p.Arg131Ile Polymorphism rs7224496 - SMYD4 Q8IYR2 VAR_025627 p.Tyr727Cys Polymorphism rs9902398 - SMYD4 Q8IYR2 VAR_025628 p.Arg562Trp Polymorphism rs11549830 - SMYD4 Q8IYR2 VAR_057495 p.Asn101Asp Polymorphism rs9907701 - SMYD4 Q8IYR2 VAR_057496 p.Gly236Ser Polymorphism rs9913923 - SMYD4 Q8IYR2 VAR_057497 p.Ile374Met Polymorphism rs9890631 - SMYD4 Q8IYR2 VAR_057498 p.Pro382Arg Polymorphism rs3809875 - SMYD4 Q8IYR2 VAR_064755 p.Ala601Pro Unclassified - - SNAI1 O95863 VAR_019969 p.Val118Ala Polymorphism rs4647958 - SNAI2 O43623 VAR_009873 p.Asp119Glu Unclassified - - SNAP47 Q5SQN1 VAR_035367 p.Arg48Gly Polymorphism rs2236359 - SNAP47 Q5SQN1 VAR_035368 p.Gly119Arg Polymorphism rs12239037 - SNAP47 Q5SQN1 VAR_035369 p.Val154Met Polymorphism rs2236358 - SNAP47 Q5SQN1 VAR_035370 p.Arg381Cys Polymorphism rs17851681 - SNAPC2 Q13487 VAR_011806 p.Leu118Val Polymorphism rs475002 - SNAPC3 Q92966 VAR_051366 p.Glu398Ala Polymorphism rs3087653 - SNAPC4 Q5SXM2 VAR_050193 p.His799Gln Polymorphism rs3812571 - SNAPC4 Q5SXM2 VAR_050194 p.Pro1448Ser Polymorphism rs3812561 - SNAPC4 Q5SXM2 VAR_059455 p.Asp44Asn Polymorphism rs7031489 - SNAPIN O95295 VAR_017423 p.Ser112Cys Polymorphism rs1802461 - SNCAIP Q9Y6H5 VAR_025667 p.Arg621Cys Unclassified rs28937592 - SNCAIP Q9Y6H5 VAR_048312 p.Glu235Gly Polymorphism rs6867105 - SNCAIP Q9Y6H5 VAR_065358 p.Val44Ala Polymorphism rs56285021 - SNCAIP Q9Y6H5 VAR_065359 p.Glu706Gln Polymorphism - - SNCA P37840 VAR_007454 p.Ala53Thr Disease - Parkinson disease type 1 (PARK1) [MIM:168601] SNCA P37840 VAR_007957 p.Ala30Pro Disease - Parkinson disease type 1 (PARK1) [MIM:168601] SNCA P37840 VAR_022703 p.Glu46Lys Disease - Dementia Lewy body (DLB) [MIM:127750] SNCA P37840 VAR_022703 p.Glu46Lys Disease - Parkinson disease type 1 (PARK1) [MIM:168601] SNCG O76070 VAR_007455 p.Glu110Val Polymorphism rs9864 - SND1-IT1 Q9HBX3 VAR_050818 p.Thr24Ala Polymorphism rs17151639 - SNED1 Q8TER0 VAR_034847 p.Leu1228Pro Polymorphism rs17440466 - SNED1 Q8TER0 VAR_034848 p.Arg1289Gln Polymorphism rs6721345 - SNED1 Q8TER0 VAR_034849 p.His1299Arg Polymorphism rs6708120 - SNED1 Q8TER0 VAR_034850 p.Ala1362Ser Polymorphism rs2108485 - SNN O75324 VAR_018842 p.Val17Ile Polymorphism rs8191328 - SNN O75324 VAR_018843 p.Gly88Ser Polymorphism rs8191329 - SNRK Q9NRH2 VAR_041096 p.Leu260Ser Polymorphism rs35624204 - SNRK Q9NRH2 VAR_041097 p.Pro391Ser Polymorphism rs56104180 - SNRK Q9NRH2 VAR_041098 p.Gly611Ser Unclassified - An ovarian mucinous carcinoma sample SNRK Q9NRH2 VAR_041099 p.Pro748Leu Unclassified - An ovarian serous carcinoma sample SNRK Q9NRH2 VAR_041100 p.Ile765Met Unclassified - A breast pleomorphic lobular carcinoma sample SNRNP200 O75643 VAR_035943 p.Phe1736Leu Unclassified - A colorectal cancer sample SNRNP200 O75643 VAR_063539 p.Ser1087Leu Disease - Retinitis pigmentosa type 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_063540 p.Arg1090Leu Disease - Retinitis pigmentosa type 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_065587 p.Arg681Cys Disease - Retinitis pigmentosa type 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_065588 p.Arg681His Disease - Retinitis pigmentosa type 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_065589 p.Val683Leu Disease - Retinitis pigmentosa type 33 (RP33) [MIM:610359] SNRNP200 O75643 VAR_065590 p.Tyr689Cys Disease - Retinitis pigmentosa type 33 (RP33) [MIM:610359] SNRNP27 Q8WVK2 VAR_025363 p.Thr81Ile Polymorphism - - SNRNP27 Q8WVK2 VAR_025364 p.Ser114Phe Polymorphism - - SNRNP48 Q6IEG0 VAR_033678 p.Pro45Leu Polymorphism rs2757594 - SNRNP48 Q6IEG0 VAR_050812 p.Arg281Gln Polymorphism rs3823184 - SNRPA1 P09661 VAR_052030 p.Arg234His Polymorphism rs1050843 - SNRPB2 P08579 VAR_035487 p.Lys19Gln Unclassified - A colorectal cancer sample SNRPB P14678 VAR_052274 p.Ser79Pro Polymorphism rs11545672 - SNTA1 Q13424 VAR_014075 p.Leu364Phe Polymorphism rs1046815 - SNTA1 Q13424 VAR_062399 p.Ala257Gly Disease - Long QT syndrome type 12 (LQT12) [MIM:612955] SNTA1 Q13424 VAR_062400 p.Ala390Val Disease - Long QT syndrome type 12 (LQT12) [MIM:612955] SNTB2 Q13425 VAR_014076 p.Asp424Glu Polymorphism rs1058482 - SNTG2 Q9NY99 VAR_034501 p.Ser168Tyr Polymorphism rs28505970 - SNTG2 Q9NY99 VAR_034502 p.Ser200Leu Polymorphism rs6751090 - SNTG2 Q9NY99 VAR_034503 p.Ile391Val Polymorphism rs13023962 - SNX10 Q9Y5X0 VAR_046098 p.Ser187Ile Polymorphism rs1053042 - SNX13 Q9Y5W8 VAR_057333 p.Leu472Ser Polymorphism rs35113148 - SNX15 Q9NRS6 VAR_052478 p.Arg334Cys Polymorphism rs495820 - SNX16 P57768 VAR_052479 p.Pro98Leu Polymorphism rs16919654 - SNX18 Q96RF0 VAR_052480 p.Glu571Asp Polymorphism rs2548612 - SNX18 Q96RF0 VAR_052481 p.Lys593Thr Polymorphism rs13162502 - SNX19 Q92543 VAR_057334 p.Ser407Gly Polymorphism rs3190345 - SNX19 Q92543 VAR_060288 p.Val361Leu Polymorphism rs3751037 - SNX19 Q92543 VAR_060289 p.Asp396Glu Polymorphism rs52802589 - SNX19 Q92543 VAR_060290 p.Leu618Phe Polymorphism rs681982 - SNX19 Q92543 VAR_060291 p.Asn753Ser Polymorphism rs4414223 - SNX19 Q92543 VAR_060292 p.Leu878Arg Polymorphism rs2298566 - SNX1 Q13596 VAR_034507 p.Asp466Asn Polymorphism rs1802376 - SNX1 Q13596 VAR_052477 p.Ser115Tyr Polymorphism rs1049501 - SNX20 Q7Z614 VAR_039927 p.Pro35Leu Polymorphism rs1131716 - SNX21 Q969T3 VAR_052482 p.Ala154Thr Polymorphism rs4638862 - SNX25 Q9H3E2 VAR_047057 p.Glu318Lys Polymorphism rs35700132 - SNX25 Q9H3E2 VAR_047058 p.Ile586Val Polymorphism rs3756275 - SNX25 Q9H3E2 VAR_047059 p.Thr725Ile Polymorphism rs34120554 - SNX27 Q96L92 VAR_059851 p.Glu459Lys Polymorphism rs11204871 - SNX30 Q5VWJ9 VAR_031771 p.Asp83His Polymorphism rs2796036 - SNX30 Q5VWJ9 VAR_052483 p.Pro125Ala Polymorphism rs10117709 - SNX31 Q8N9S9 VAR_042900 p.Asp73His Polymorphism rs2187016 - SNX31 Q8N9S9 VAR_042901 p.Gln309Arg Polymorphism rs2248609 - SNX31 Q8N9S9 VAR_042902 p.Asp428Gly Polymorphism rs2022923 - SNX32 Q86XE0 VAR_039298 p.His155Asn Polymorphism rs17854065 - SNX32 Q86XE0 VAR_039299 p.Ala282Val Polymorphism rs17855647 - SNX32 Q86XE0 VAR_039300 p.Ser354Tyr Polymorphism rs17857243 - SNX7 Q9UNH6 VAR_057331 p.Phe186Leu Polymorphism rs35391040 - SNX7 Q9UNH6 VAR_057332 p.Ser278Asn Polymorphism rs12033678 - SNX8 Q9Y5X2 VAR_036259 p.Ala147Gly Unclassified - A colorectal cancer sample SOAT1 P35610 VAR_052031 p.Gln526Arg Polymorphism rs13306731 - SOAT2 O75908 VAR_020373 p.Glu14Gly Polymorphism rs9658625 - SOAT2 O75908 VAR_020374 p.Thr254Ile Polymorphism rs2272296 - SOBP A7XYQ1 VAR_062215 p.Ser683Gly Polymorphism rs9486659 - SOCS1 O15524 VAR_061808 p.Gln210His Polymorphism rs11549428 - SOCS2 O14508 VAR_052032 p.Ser52Asn Polymorphism rs3741676 - SOCS3 O14543 VAR_030033 p.His125Tyr Polymorphism rs1061489 - SOD1 P00441 VAR_007130 p.Ala5Thr Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007131 p.Ala5Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007132 p.Val8Glu Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007133 p.Val15Met Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007134 p.Gly17Ser Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007135 p.Glu22Lys Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007136 p.Gly38Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007137 p.Leu39Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007138 p.Gly42Ser Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007139 p.Gly42Asp Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007140 p.His44Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007141 p.His47Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007142 p.His49Gln Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007143 p.Leu85Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007144 p.Gly86Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007145 p.Asp91Ala Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007146 p.Gly94Ala Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007147 p.Gly94Cys Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007148 p.Gly94Asp Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007149 p.Gly94Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007150 p.Glu101Gly Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007151 p.Asp102Gly Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007152 p.Asp102Asn Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007153 p.Leu107Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007154 p.Ile113Thr Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007155 p.Ile114Thr Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007156 p.Arg116Gly Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007157 p.Asp126His Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007158 p.Ser135Asn Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007159 p.Asn140Lys Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007160 p.Leu145Phe Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007161 p.Val149Gly Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007162 p.Val149Ile Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007163 p.Ile150Thr Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_007164 p.Ile152Thr Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008717 p.Cys7Phe Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008718 p.Gly73Ser Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008719 p.Gly94Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008720 p.Ile105Phe Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008722 p.Asp125Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008724 p.Leu145Ser Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_008725 p.Ala146Thr Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013518 p.Ala5Ser Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013519 p.Leu9Gln Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013520 p.Leu9Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013521 p.Gly13Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013522 p.Val15Gly Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013523 p.Glu22Gly Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013524 p.Leu39Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013525 p.Phe46Cys Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013526 p.Glu50Lys Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013527 p.Asn66Ser Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013528 p.Leu68Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013529 p.Asp77Tyr Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013530 p.Leu85Phe Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013531 p.Asn87Ser Disease rs11556620 Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013532 p.Ala90Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013533 p.Asp91Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013534 p.Glu101Lys Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013535 p.Ser106Leu Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013536 p.Gly109Val Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013537 p.Ile113Met Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013538 p.Gly115Ala Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013539 p.Leu127Ser Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_013540 p.Cys147Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_016874 p.His81Ala Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045876 p.Phe21Cys Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045877 p.Gln23Leu Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045878 p.His49Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045879 p.Thr55Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045880 p.Val88Ala Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045881 p.Ala90Thr Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045882 p.Val98Met Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045883 p.Val119Leu Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045884 p.Asp125Gly Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_045885 p.Gly148Arg Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_065194 p.Ala96Gly Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD1 P00441 VAR_065560 p.Leu68Pro Disease - Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] SOD2 P04179 VAR_007165 p.Ile82Thr Polymorphism rs1141718 - SOD2 P04179 VAR_016183 p.Ala16Val Polymorphism rs4880 - SOD2 P04179 VAR_019363 p.Ser10Ile Polymorphism rs5746096 - SOD2 P04179 VAR_019364 p.Glu66Val Polymorphism rs5746097 - SOD2 P04179 VAR_019365 p.Arg156Trp Polymorphism rs5746129 - SOD2 P04179 VAR_025898 p.Gly76Arg Polymorphism rs4987023 - SOD3 P08294 VAR_014705 p.Arg231Gly Polymorphism rs1799895 - SOD3 P08294 VAR_020776 p.Ala58Thr Polymorphism rs2536512 - SOD3 P08294 VAR_020777 p.Ala91Thr Polymorphism rs17879876 - SOGA1 O94964 VAR_056848 p.Gln993His Polymorphism rs34459518 - SOGA2 Q9Y4B5 VAR_031073 p.Gln861Arg Polymorphism rs1965665 - SOGA2 Q9Y4B5 VAR_031074 p.Asp898Gly Polymorphism rs3744979 - SOGA2 Q9Y4B5 VAR_031075 p.Gly1097Ser Polymorphism rs12386117 - SOGA2 Q9Y4B5 VAR_031076 p.Lys1211Gln Polymorphism rs11874468 - SOGA2 Q9Y4B5 VAR_055942 p.Met602Thr Polymorphism rs35739383 - SOHLH1 Q5JUK2 VAR_038281 p.Arg37Gln Polymorphism rs471525 - SOHLH1 Q5JUK2 VAR_038282 p.Pro269Ser Polymorphism rs3119932 - SOHLH1 Q5JUK2 VAR_064060 p.Cys31Arg Unclassified - - SOHLH1 Q5JUK2 VAR_064061 p.Pro177Thr Unclassified - - SOHLH2 Q9NX45 VAR_038283 p.Ser14Leu Polymorphism rs12873478 - SOHLH2 Q9NX45 VAR_038284 p.Ala339Thr Polymorphism rs2296968 - SON P18583 VAR_056990 p.Thr870Ala Polymorphism rs11908823 - SON P18583 VAR_056991 p.Arg1575Cys Polymorphism rs13047599 - SON P18583 VAR_065456 p.Pro473Ser Polymorphism rs35622138 - SON P18583 VAR_065457 p.Thr555Met Polymorphism rs13049658 - SON P18583 VAR_065458 p.Ser1202Leu Polymorphism rs13433428 - SORBS1 Q9BX66 VAR_019653 p.Arg74Trp Polymorphism - - SORBS1 Q9BX66 VAR_019654 p.Thr237Ala Polymorphism rs2281939 - SORBS1 Q9BX66 VAR_035661 p.Thr195Ala Unclassified - A breast cancer sample SORBS1 Q9BX66 VAR_047652 p.Leu61Pro Polymorphism rs943542 - SORBS1 Q9BX66 VAR_047653 p.Gly175Val Polymorphism rs7081076 - SORBS1 Q9BX66 VAR_047654 p.Tyr485Cys Polymorphism rs35808802 - SORBS2 O94875 VAR_045624 p.Ala1048Val Polymorphism rs725185 - SORBS3 O60504 VAR_055019 p.Ile556Thr Polymorphism rs2449331 - SORBS3 O60504 VAR_055020 p.Thr573Ala Polymorphism rs1047030 - SORBS3 O60504 VAR_057019 p.Pro255Leu Polymorphism rs3758036 - SORCS1 Q8WY21 VAR_036374 p.Lys223Asn Unclassified - A breast cancer sample SORCS2 Q96PQ0 VAR_060109 p.Gly345Arg Polymorphism rs34058821 - SORCS2 Q96PQ0 VAR_060110 p.Thr695Met Polymorphism rs16840892 - SORCS2 Q96PQ0 VAR_060111 p.Thr745Ile Polymorphism rs16840899 - SORD Q00796 VAR_000430 p.Gln239Leu Polymorphism rs55739437 - SORD Q00796 VAR_060351 p.Asn269Thr Polymorphism rs2229659 - SORL1 Q92673 VAR_020360 p.Ala528Thr Polymorphism rs2298813 - SORL1 Q92673 VAR_034508 p.Gln1074Glu Polymorphism rs1699107 - SORL1 Q92673 VAR_034509 p.Val1967Ile Polymorphism rs1792120 - SORL1 Q92673 VAR_036371 p.Leu120Ser Unclassified - A breast cancer sample SORL1 Q92673 VAR_036372 p.Met1581Leu Unclassified - A breast cancer sample SORL1 Q92673 VAR_036373 p.Leu1972Val Unclassified - A colorectal cancer sample SORT1 Q99523 VAR_053681 p.Asp358Tyr Polymorphism rs2228605 - SOS1 Q07889 VAR_030423 p.Glu108Lys Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030424 p.Thr266Lys Disease rs137852812 Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030425 p.Met269Arg Disease rs137852813 Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030426 p.Asp309Tyr Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030427 p.Tyr337Cys Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030428 p.Trp432Arg Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030429 p.Glu433Lys Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030430 p.Gly434Arg Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030431 p.Cys441Tyr Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030432 p.Ser548Arg Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030433 p.Leu550Pro Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030434 p.Arg552Gly Disease rs137852814 Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030435 p.Arg552Lys Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030436 p.Arg552Ser Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030437 p.Pro655Leu Polymorphism rs56219475 - SOS1 Q07889 VAR_030438 p.Tyr702His Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030439 p.Trp729Leu Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030440 p.Ile733Phe Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030441 p.Glu846Lys Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_030442 p.Gln977Arg Polymorphism - - SOS1 Q07889 VAR_030443 p.His1320Arg Polymorphism - - SOS1 Q07889 VAR_064504 p.Met269Thr Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_064505 p.Gln477Arg Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS1 Q07889 VAR_064506 p.Arg497Gln Disease - Noonan syndrome type 4 (NS4) [MIM:610733] SOS2 Q07890 VAR_034441 p.Leu672Ile Polymorphism rs34139502 - SOS2 Q07890 VAR_054327 p.Ser483Asn Polymorphism rs17122201 - SOS2 Q07890 VAR_054328 p.His508Tyr Polymorphism rs8010237 - SOSTDC1 Q6X4U4 VAR_053682 p.Gln189His Polymorphism rs34016012 - SOST Q9BQB4 VAR_063982 p.Cys167Arg Disease - Sclerosteosis type 1 (SOST1) [MIM:269500] SOST Q9BQB4 VAR_065766 p.Val21Leu Disease - Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860] SOST Q9BQB4 VAR_065767 p.Val21Met Disease - Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860] SOWAHA Q2M3V2 VAR_059125 p.Arg124Pro Polymorphism rs40274 - SOWAHA Q2M3V2 VAR_060465 p.Phe545Leu Polymorphism rs40470 - SOWAHB A6NEL2 VAR_048280 p.Pro377Thr Polymorphism rs2703130 - SOWAHB A6NEL2 VAR_059126 p.Asp152Gly Polymorphism rs2703129 - SOWAHD A6NJG2 VAR_061019 p.Thr254Ala Polymorphism rs12841259 - SOX10 P56693 VAR_021386 p.Ser135Thr Disease - Waardenburg syndrome type 2E (WS2E) [MIM:611584] SOX13 Q9UN79 VAR_062671 p.Pro532Ser Polymorphism rs34758764 - SOX17 Q9H6I2 VAR_065169 p.Gly178Cys Disease - Vesicoureteral reflux type 3 (VUR3) [MIM:613674] SOX17 Q9H6I2 VAR_065170 p.Tyr259Asn Disease - Vesicoureteral reflux type 3 (VUR3) [MIM:613674] SOX18 P35713 VAR_016210 p.Trp95Arg Disease rs28936693 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] SOX18 P35713 VAR_016211 p.Ala104Pro Disease rs28936692 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] SOX21 Q9Y651 VAR_049562 p.Gly230Arg Polymorphism rs6492735 - SOX30 O94993 VAR_024485 p.Val749Met Polymorphism rs889057 - SOX30 O94993 VAR_049563 p.Gln429Lys Polymorphism rs12188040 - SOX3 P41225 VAR_026451 p.Ala43Thr Polymorphism - - SOX5 P35711 VAR_065754 p.Gln362Pro Unclassified - - SOX9 P48436 VAR_003735 p.Pro108Leu Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003736 p.Phe112Leu Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003737 p.Phe112Ser Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003738 p.Ala119Val Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003739 p.Trp143Arg Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003740 p.Arg152Pro Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_003741 p.Pro170Arg Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_008529 p.Phe154Leu Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_008530 p.Ala158Thr Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_008531 p.His165Tyr Disease rs28940282 Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063642 p.Ala76Glu Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063643 p.Met113Thr Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063644 p.Met113Val Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063645 p.His165Gln Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063646 p.Pro170Leu Disease - Campomelic dysplasia (CMD1) [MIM:114290] SOX9 P48436 VAR_063647 p.Lys173Glu Disease - Campomelic dysplasia (CMD1) [MIM:114290] SP100 P23497 VAR_005621 p.Met433Val Polymorphism rs12724 - SP100 P23497 VAR_005622 p.Ser471Pro Unclassified - - SP100 P23497 VAR_034510 p.Glu699Gly Polymorphism rs34700604 - SP110 Q9HB58 VAR_027170 p.Trp112Arg Polymorphism rs1129411 - SP110 Q9HB58 VAR_027171 p.Ala128Val Polymorphism rs11556887 - SP110 Q9HB58 VAR_027172 p.Ala206Val Polymorphism rs28930679 - SP110 Q9HB58 VAR_027173 p.Glu207Lys Polymorphism rs9061 - SP110 Q9HB58 VAR_027174 p.Glu212Gly Polymorphism rs1047254 - SP110 Q9HB58 VAR_027175 p.Met249Val Polymorphism rs3769838 - SP110 Q9HB58 VAR_027176 p.Glu267Gly Polymorphism rs1129425 - SP110 Q9HB58 VAR_027177 p.Gly299Arg Polymorphism rs1365776 - SP110 Q9HB58 VAR_027178 p.Thr367Met Polymorphism rs59573011 - SP110 Q9HB58 VAR_027179 p.Leu425Ser Polymorphism rs3948464 - SP110 Q9HB58 VAR_027180 p.Met523Thr Polymorphism rs1135791 - SP110 Q9HB58 VAR_027181 p.Met579Ile Polymorphism rs3948463 - SP110 Q9HB58 VAR_036029 p.Met8Thr Unclassified - A breast cancer sample SP110 Q9HB58 VAR_036030 p.Gly683Ser Unclassified - A breast cancer sample SP110 Q9HB58 VAR_047051 p.Ser173Leu Polymorphism rs41552315 - SP110 Q9HB58 VAR_047052 p.Ser210Ala Polymorphism rs1063154 - SP140L Q9H930 VAR_059144 p.Met88Thr Polymorphism rs4973318 - SP140L Q9H930 VAR_059145 p.Thr225Met Polymorphism rs28497362 - SP140L Q9H930 VAR_059146 p.Pro377Ser Polymorphism rs7590429 - SP140 Q13342 VAR_055555 p.Leu356Phe Polymorphism rs3820975 - SP140 Q13342 VAR_055556 p.Met512Thr Polymorphism rs4972945 - SP140 Q13342 VAR_055557 p.Glu516Lys Polymorphism rs4972946 - SP140 Q13342 VAR_055558 p.Arg558Cys Polymorphism rs11887179 - SP1 P08047 VAR_019971 p.Thr737Ala Polymorphism rs3741665 - SP3 Q02447 VAR_016123 p.Thr164Ala Polymorphism rs1047640 - SP4 Q02446 VAR_047975 p.Gln197Lys Polymorphism rs1042848 - SP5 Q6BEB4 VAR_052713 p.Ala75Thr Polymorphism rs3749036 - SP6 Q3SY56 VAR_052714 p.Val156Ile Polymorphism rs34309518 - SPACA1 Q9HBV2 VAR_027258 p.Leu237Ser Polymorphism rs2276089 - SPACA3 Q8IXA5 VAR_028885 p.Cys80Tyr Polymorphism rs16967845 - SPACA3 Q8IXA5 VAR_028886 p.His100Arg Polymorphism rs28963 - SPACA3 Q8IXA5 VAR_050008 p.Ala128Thr Polymorphism rs35420663 - SPACA7 Q96KW9 VAR_030260 p.Val111Asp Polymorphism rs10816 - SPACA7 Q96KW9 VAR_035675 p.Arg25Trp Unclassified - A colorectal cancer sample SPAG11B Q08648 VAR_005269 p.Arg77Gln Polymorphism rs2853658 - SPAG11B Q08648 VAR_053683 p.Asp89Gly Polymorphism rs2738035 - SPAG16 Q8N0X2 VAR_022366 p.Gln361His Polymorphism rs2042791 - SPAG16 Q8N0X2 VAR_022367 p.Lys425Thr Polymorphism rs12623569 - SPAG16 Q8N0X2 VAR_053418 p.Pro324Thr Polymorphism rs10167688 - SPAG17 Q6Q759 VAR_042863 p.Arg143Gln Polymorphism rs12133381 - SPAG17 Q6Q759 VAR_042864 p.Glu158Val Polymorphism rs17185492 - SPAG17 Q6Q759 VAR_042865 p.Thr1253Pro Polymorphism rs34366834 - SPAG17 Q6Q759 VAR_042866 p.Pro1348Leu Polymorphism rs10923472 - SPAG17 Q6Q759 VAR_042867 p.Asp1707Glu Unclassified - A colorectal cancer sample SPAG1 Q07617 VAR_054324 p.Glu331Lys Polymorphism rs17335870 - SPAG1 Q07617 VAR_054325 p.Met777Thr Polymorphism rs6511 - SPAG1 Q07617 VAR_054326 p.His827Tyr Polymorphism rs6510 - SPAG6 O75602 VAR_024282 p.Gln216Arg Polymorphism rs7074847 - SPAG6 O75602 VAR_035659 p.Val106Leu Unclassified - A breast cancer sample SPAG8 Q99932 VAR_056992 p.Ala69Thr Polymorphism rs13299596 - SPAG9 O60271 VAR_059364 p.Asn1320Ser Polymorphism rs9896965 - SPAM1 P38567 VAR_049213 p.Val47Ala Polymorphism rs34633019 - SPAM1 P38567 VAR_064756 p.Lys5Gln Unclassified - - SPANXB1 Q9NS25 VAR_021163 p.Val74Leu Polymorphism rs3208371 - SPANXC Q9NY87 VAR_032024 p.Val59Phe Polymorphism - - SPANXC Q9NY87 VAR_034515 p.Val59Leu Polymorphism rs16993705 - SPANXD Q9BXN6 VAR_034516 p.Val68Leu Polymorphism rs5953618 - SPANXE Q8TAD1 VAR_021164 p.Val68Leu Polymorphism rs5953618 - SPANXN2 Q5MJ10 VAR_032025 p.Thr8Ile Polymorphism - - SPANXN3 Q5MJ09 VAR_032026 p.Lys43Asn Polymorphism rs6654212 - SPANXN3 Q5MJ09 VAR_053684 p.Val89Ile Polymorphism rs5953851 - SPANXN4 Q5MJ08 VAR_032027 p.Lys48Asn Polymorphism rs10482390 - SPARCL1 Q14515 VAR_016107 p.Ala49Asp Polymorphism rs13051 - SPARCL1 Q14515 VAR_056578 p.Thr419Ala Polymorphism rs1130643 - SPARCL1 Q14515 VAR_058849 p.His106Asp Polymorphism rs1049544 - SPARC P09486 VAR_050431 p.Pro19Ser Polymorphism rs6874468 - SPARC P09486 VAR_059530 p.Asn70Ser Polymorphism rs13359508 - SPAST Q9UBP0 VAR_010194 p.Ser44Leu Polymorphism - - SPAST Q9UBP0 VAR_010195 p.Ser362Cys Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_010196 p.Arg424Gly Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_010197 p.Cys448Tyr Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_010198 p.Arg499Cys Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_010199 p.Asp584His Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019439 p.Leu378Gln Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019440 p.Asn386Ser Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019441 p.Met390Val Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019442 p.Arg503Leu Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019444 p.Leu534Pro Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019445 p.Thr614Ile Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019448 p.Ile344Lys Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019450 p.Ser407Arg Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019451 p.Ala551Tyr Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_019452 p.Thr615Ile Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026758 p.Leu195Val Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026759 p.Ile406Val Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026760 p.Asp493Gly Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026761 p.Arg499His Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026762 p.Arg503Trp Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_026763 p.Trp607Cys Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027205 p.Pro45Gln Polymorphism - - SPAST Q9UBP0 VAR_027206 p.Gln347Lys Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027207 p.Pro361Leu Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027208 p.Gly370Arg Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027209 p.Phe381Cys Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027210 p.Asn386Lys Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027211 p.Lys388Arg Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027212 p.Ser399Leu Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027213 p.Leu426Val Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027214 p.Pro435Leu Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027215 p.Ser436Phe Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027216 p.Asp441Gly Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027217 p.Arg459Gly Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027218 p.Arg460Cys Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027219 p.Arg460Leu Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027220 p.Asp470Val Disease rs28939368 Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027221 p.Ala485Val Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027222 p.Pro489Leu Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027223 p.Glu512Asp Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027224 p.Asp555Asn Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027225 p.Ala556Val Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027226 p.Gly559Asp Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027227 p.Arg562Gly Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_027228 p.Arg562Gln Disease - Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] SPAST Q9UBP0 VAR_035902 p.Val423Leu Unclassified - A breast cancer sample SPATA13 Q96N96 VAR_030776 p.Arg20Trp Polymorphism rs7330736 - SPATA16 Q9BXB7 VAR_038329 p.Asn50Ser Polymorphism rs16846624 - SPATA16 Q9BXB7 VAR_038330 p.Glu78Lys Polymorphism rs1515441 - SPATA16 Q9BXB7 VAR_038331 p.Glu90Gly Polymorphism rs11558933 - SPATA16 Q9BXB7 VAR_038332 p.Met133Val Polymorphism rs1515442 - SPATA16 Q9BXB7 VAR_038333 p.Gly147Glu Polymorphism rs16846616 - SPATA16 Q9BXB7 VAR_038334 p.Arg283Gln Disease - Spermatogenic failure type 6 (SPGF6) [MIM:102530] SPATA16 Q9BXB7 VAR_038335 p.Met286Val Polymorphism - - SPATA16 Q9BXB7 VAR_038336 p.Val423Met Polymorphism - - SPATA16 Q9BXB7 VAR_038337 p.Ala509Val Polymorphism - - SPATA16 Q9BXB7 VAR_038338 p.Met526Thr Polymorphism - - SPATA16 Q9BXB7 VAR_038339 p.Gln564Arg Polymorphism - - SPATA17 Q96L03 VAR_051382 p.Asn16Ser Polymorphism rs34652544 - SPATA18 Q8TC71 VAR_028828 p.Ser227Pro Polymorphism rs3860707 - SPATA18 Q8TC71 VAR_028829 p.Lys483Arg Polymorphism rs11558773 - SPATA19 Q7Z5L4 VAR_027697 p.Ala50Val Polymorphism rs2282602 - SPATA1 Q5VX52 VAR_046284 p.Val153Leu Polymorphism rs10493753 - SPATA20 Q8TB22 VAR_030777 p.Gln88Glu Polymorphism rs8076632 - SPATA20 Q8TB22 VAR_030778 p.Ser483Thr Polymorphism rs9913430 - SPATA20 Q8TB22 VAR_030779 p.Lys609Arg Polymorphism rs8065903 - SPATA21 Q7Z572 VAR_042711 p.Pro24Ser Unclassified - A breast cancer sample SPATA21 Q7Z572 VAR_042712 p.Ile53Leu Polymorphism rs12087671 - SPATA21 Q7Z572 VAR_042713 p.Gln184Arg Polymorphism rs4661746 - SPATA21 Q7Z572 VAR_042714 p.Val255Leu Polymorphism rs525409 - SPATA21 Q7Z572 VAR_042715 p.Asn390Lys Polymorphism rs12133574 - SPATA22 Q8NHS9 VAR_027693 p.Arg112Thr Polymorphism rs2291604 - SPATA22 Q8NHS9 VAR_027694 p.Val148Met Polymorphism rs1488690 - SPATA22 Q8NHS9 VAR_027695 p.Gln155Arg Polymorphism rs11556563 - SPATA22 Q8NHS9 VAR_027696 p.Ile160Thr Polymorphism rs1488689 - SPATA25 Q9BR10 VAR_015146 p.Pro94Leu Polymorphism rs3827040 - SPATA2 Q9UM82 VAR_051368 p.Leu443Phe Polymorphism rs2072985 - SPATA31E1 Q6ZUB1 VAR_022858 p.Thr335Pro Polymorphism rs7850542 - SPATA31E1 Q6ZUB1 VAR_022859 p.Asp682Glu Polymorphism rs4076795 - SPATA31E1 Q6ZUB1 VAR_022860 p.Asp704Glu Polymorphism rs4076794 - SPATA31E1 Q6ZUB1 VAR_022861 p.Asp1202Gly Polymorphism rs11789780 - SPATA31E1 Q6ZUB1 VAR_022862 p.Arg1350His Polymorphism rs11142017 - SPATA31E1 Q6ZUB1 VAR_053943 p.Val409Met Polymorphism rs34946554 - SPATA31E1 Q6ZUB1 VAR_053944 p.Lys586Glu Polymorphism rs35232271 - SPATA31E1 Q6ZUB1 VAR_053945 p.Thr671Met Polymorphism rs36079890 - SPATA31E1 Q6ZUB1 VAR_053946 p.Gly700Arg Polymorphism rs34017995 - SPATA31E1 Q6ZUB1 VAR_053947 p.Ala736Val Polymorphism rs34791830 - SPATA31E1 Q6ZUB1 VAR_053948 p.Pro924Leu Polymorphism rs34051334 - SPATA31E1 Q6ZUB1 VAR_053949 p.Val1019Glu Polymorphism rs10868670 - SPATA31E1 Q6ZUB1 VAR_062203 p.Thr208Ser Polymorphism rs28510722 - SPATA32 Q96LK8 VAR_060279 p.Val142Met Polymorphism rs11651968 - SPATA4 Q8NEY3 VAR_051369 p.Tyr149Cys Polymorphism rs17062589 - SPATA5L1 Q9BVQ7 VAR_048111 p.Arg119Pro Polymorphism rs1153850 - SPATA5L1 Q9BVQ7 VAR_048112 p.Asn592Asp Polymorphism rs16943025 - SPATA5L1 Q9BVQ7 VAR_059085 p.Arg252Gln Polymorphism rs7182723 - SPATA5 Q8NB90 VAR_042703 p.Cys27Ser Polymorphism rs35430470 - SPATA5 Q8NB90 VAR_042704 p.Ser673Tyr Polymorphism rs35133326 - SPATA6L Q8N4H0 VAR_053838 p.Arg243Gly Polymorphism rs10974657 - SPATA6L Q8N4H0 VAR_053839 p.Ala310Thr Polymorphism rs16921613 - SPATA6 Q9NWH7 VAR_030774 p.Arg333Trp Polymorphism rs1338314 - SPATA6 Q9NWH7 VAR_030775 p.Cys478Tyr Polymorphism rs1056042 - SPATA6 Q9NWH7 VAR_062174 p.Cys478Phe Polymorphism rs1056042 - SPATA6 Q9NWH7 VAR_062175 p.Cys478Ser Polymorphism rs1056042 - SPATA7 Q9P0W8 VAR_016912 p.Val74Met Polymorphism rs3179969 - SPATA7 Q9P0W8 VAR_051370 p.Asp2Asn Polymorphism rs4904448 - SPATA7 Q9P0W8 VAR_051371 p.Phe119Leu Polymorphism rs35137272 - SPATA7 Q9P0W8 VAR_051372 p.Ser165Asn Polymorphism rs17124662 - SPATA7 Q9P0W8 VAR_051373 p.Gly324Glu Polymorphism rs17124677 - SPATA7 Q9P0W8 VAR_051374 p.Arg534Gln Polymorphism rs10139784 - SPATA9 Q9BWV2 VAR_051375 p.Lys209Glu Polymorphism rs34297786 - SPATC1L Q9H0A9 VAR_059639 p.Pro113Leu Polymorphism rs884134 - SPATC1L Q9H0A9 VAR_059640 p.Ser298Asn Polymorphism rs14378 - SPATS1 Q496A3 VAR_036631 p.Gly8Arg Polymorphism rs10948132 - SPDEF O95238 VAR_048955 p.Ala57Thr Polymorphism rs2233639 - SPDL1 Q96EA4 VAR_030307 p.Tyr508His Polymorphism rs3797713 - SPDL1 Q96EA4 VAR_030308 p.Leu586Ser Polymorphism rs3777084 - SPECC1L Q69YQ0 VAR_060448 p.Asp301Gly Polymorphism rs204710 - SPECC1L Q69YQ0 VAR_060449 p.Ser712Phe Polymorphism rs5760340 - SPECC1L Q69YQ0 VAR_060450 p.Thr717Ala Polymorphism rs6004132 - SPECC1L Q69YQ0 VAR_060451 p.Val943Ala Polymorphism rs11704759 - SPECC1L Q69YQ0 VAR_060452 p.Val951Met Polymorphism rs204718 - SPECC1 Q5M775 VAR_028800 p.Met293Leu Polymorphism rs2703806 - SPECC1 Q5M775 VAR_053055 p.Ser274Arg Polymorphism rs9908032 - SPECC1 Q5M775 VAR_053056 p.Asp769Asn Polymorphism rs35835131 - SPEF2 Q9C093 VAR_034766 p.Asn71His Polymorphism rs6897513 - SPEF2 Q9C093 VAR_034767 p.Gly74Ser Polymorphism rs34307272 - SPEF2 Q9C093 VAR_034768 p.Arg366Lys Polymorphism rs16902381 - SPEF2 Q9C093 VAR_034769 p.Arg447Gln Polymorphism rs34852821 - SPEF2 Q9C093 VAR_034770 p.Asp500Asn Polymorphism rs34708521 - SPEF2 Q9C093 VAR_034771 p.Asn616Lys Polymorphism rs7710284 - SPEF2 Q9C093 VAR_034772 p.Glu655Gly Polymorphism rs12332369 - SPEF2 Q9C093 VAR_034773 p.Lys1482Asn Polymorphism rs2277044 - SPEF2 Q9C093 VAR_051376 p.Ala904Val Polymorphism rs13170082 - SPEF2 Q9C093 VAR_051377 p.Ala934Pro Polymorphism rs13170390 - SPEG Q15772 VAR_041101 p.Arg206His Polymorphism rs55821435 - SPEG Q15772 VAR_041102 p.Arg934Cys Polymorphism rs34398769 - SPEG Q15772 VAR_041103 p.Arg966Gln Polymorphism rs34861443 - SPEG Q15772 VAR_041104 p.Pro1103Leu Polymorphism rs56334571 - SPEG Q15772 VAR_041105 p.Ala1135Val Polymorphism rs55670811 - SPEG Q15772 VAR_041106 p.Glu1178Asp Unclassified - A gastric adenocarcinoma sample SPEG Q15772 VAR_041107 p.Arg1234Trp Polymorphism rs55916864 - SPEG Q15772 VAR_041108 p.Arg1340Gln Polymorphism rs34994343 - SPEG Q15772 VAR_041109 p.Arg1621Cys Polymorphism rs55646900 - SPEG Q15772 VAR_041110 p.Arg1903Trp Unclassified - An ovarian mucinous carcinoma sample SPEG Q15772 VAR_041111 p.Pro2687Thr Polymorphism rs13026308 - SPEG Q15772 VAR_041112 p.Val2742Met Unclassified - A gastric adenocarcinoma sample SPEG Q15772 VAR_041113 p.His3079Arg Polymorphism rs12464085 - SPEG Q15772 VAR_059769 p.Pro2189Leu Polymorphism rs10755037 - SPEN Q96T58 VAR_017119 p.Ala970Val Polymorphism rs848208 - SPEN Q96T58 VAR_017120 p.Leu1091Pro Polymorphism rs848209 - SPEN Q96T58 VAR_017121 p.Asn2360Asp Polymorphism rs848210 - SPEN Q96T58 VAR_035483 p.Asp990His Unclassified - A breast cancer sample SPEN Q96T58 VAR_035484 p.Arg1488Ile Unclassified - A breast cancer sample SPEN Q96T58 VAR_052208 p.Asp1363Glu Polymorphism rs12095818 - SPERT Q8NA61 VAR_054064 p.Lys329Glu Polymorphism rs7317245 - SPESP1 Q6UW49 VAR_023738 p.Gly191Glu Polymorphism rs3743093 - SPESP1 Q6UW49 VAR_031430 p.Leu133Phe Polymorphism rs3743091 - SPESP1 Q6UW49 VAR_056994 p.His134Gln Polymorphism rs16952684 - SPG11 Q96JI7 VAR_032307 p.Tyr396Cys Polymorphism rs3759875 - SPG11 Q96JI7 VAR_032308 p.Phe463Ser Polymorphism rs3759871 - SPG11 Q96JI7 VAR_058417 p.Phe1349Ile Disease - Spastic paraplegia autosomal recessive type 11 (SPG11) [MIM:604360] SPG7 Q9UQ90 VAR_017433 p.Thr503Ala Polymorphism rs2292954 - SPG7 Q9UQ90 VAR_017434 p.Arg688Gln Polymorphism rs12960 - SPG7 Q9UQ90 VAR_045898 p.Ser692Thr Disease - Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259] SPG7 Q9UQ90 VAR_048117 p.Phe623Cys Polymorphism rs17783943 - SPG7 Q9UQ90 VAR_048118 p.Asn730Asp Polymorphism rs35749032 - SPG7 Q9UQ90 VAR_059086 p.Ser645Thr Polymorphism rs2099104 - SPG7 Q9UQ90 VAR_063603 p.Ala2Thr Polymorphism - - SPG7 Q9UQ90 VAR_063605 p.Phe284Pro Unclassified - - SPG7 Q9UQ90 VAR_063606 p.Arg294His Polymorphism - - SPG7 Q9UQ90 VAR_063607 p.Gly349Ser Disease - Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259] SPG7 Q9UQ90 VAR_063608 p.Arg486Gln Polymorphism - - SPG7 Q9UQ90 VAR_063609 p.Ala510Val Disease - Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259] SPG7 Q9UQ90 VAR_063610 p.Phe545Leu Polymorphism - - SPG7 Q9UQ90 VAR_063612 p.Trp583Cys Disease - Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259] SPG7 Q9UQ90 VAR_063613 p.Ala603Thr Polymorphism - - SPG7 Q9UQ90 VAR_063614 p.Ser635Leu Unclassified - - SPG7 Q9UQ90 VAR_063615 p.Asp650His Unclassified - - SPHK2 Q9NRA0 VAR_060112 p.Arg652Gln Polymorphism rs11881285 - SPHKAP Q2M3C7 VAR_039263 p.Gly425Arg Polymorphism rs4283414 - SPHKAP Q2M3C7 VAR_039264 p.Lys617Glu Polymorphism rs3811514 - SPHKAP Q2M3C7 VAR_039265 p.His847Gln Polymorphism rs3811515 - SPHKAP Q2M3C7 VAR_039266 p.Gln867Arg Polymorphism rs3828161 - SPHKAP Q2M3C7 VAR_059113 p.Ser1603Arg Polymorphism rs16824283 - SPIB Q01892 VAR_061150 p.Ala104Pro Polymorphism rs11546996 - SPICE1 Q8N0Z3 VAR_050756 p.Leu275Val Polymorphism rs16861032 - SPICE1 Q8N0Z3 VAR_050757 p.Arg472Gly Polymorphism rs7614751 - SPIN1 Q9Y657 VAR_053690 p.Ala221Pro Polymorphism rs34794905 - SPINK1 P00995 VAR_011688 p.Leu14Pro Disease - Pancreatitis (PCTT) [MIM:167800] SPINK1 P00995 VAR_011689 p.Asn34Ser Disease rs17107315 Pancreatitis (PCTT) [MIM:167800] SPINK1 P00995 VAR_011689 p.Asn34Ser Disease rs17107315 Tropical calcific pancreatitis (TCP) [MIM:608189] SPINK1 P00995 VAR_011690 p.Pro55Ser Polymorphism - - SPINK1 P00995 VAR_032011 p.Leu12Phe Disease rs35877720 Pancreatitis (PCTT) [MIM:167800] SPINK1 P00995 VAR_032012 p.Arg67His Polymorphism rs35523678 - SPINK4 O60575 VAR_011898 p.Val7Ile Polymorphism rs706107 - SPINK5 Q9NQ38 VAR_015537 p.Lys420Glu Polymorphism rs2303067 - SPINK5 Q9NQ38 VAR_047115 p.Gln267Arg Polymorphism rs6892205 - SPINK5 Q9NQ38 VAR_047116 p.Ser368Asn Polymorphism rs2303063 - SPINK5 Q9NQ38 VAR_047117 p.Asp386Asn Polymorphism rs2303064 - SPINK5 Q9NQ38 VAR_047118 p.Val395Met Polymorphism rs17775319 - SPINK5 Q9NQ38 VAR_047119 p.Arg441His Polymorphism rs34393923 - SPINK5 Q9NQ38 VAR_047120 p.Ile588Met Polymorphism rs35877540 - SPINK5 Q9NQ38 VAR_047121 p.Arg711Gln Polymorphism rs3777134 - SPINK5 Q9NQ38 VAR_047122 p.Glu825Asp Polymorphism rs2303070 - SPINK5 Q9NQ38 VAR_047123 p.Ser887Arg Polymorphism rs28408445 - SPINK5 Q9NQ38 VAR_047124 p.Lys969Glu Polymorphism rs3188691 - SPINK5 Q9NQ38 VAR_047125 p.His972Arg Polymorphism rs17705005 - SPINK5 Q9NQ38 VAR_061337 p.Ala335Val Polymorphism rs34482796 - SPINK6 Q6UWN8 VAR_034020 p.Pro36Thr Polymorphism rs12186491 - SPINK8 P0C7L1 VAR_043978 p.Lys78Asn Polymorphism rs11718350 - SPINT1 O43278 VAR_050065 p.Tyr123Cys Polymorphism rs11549915 - SPINT1 O43278 VAR_050066 p.Thr142Arg Polymorphism rs12323939 - SPINT1 O43278 VAR_050067 p.Pro337Leu Polymorphism rs7165897 - SPINT2 O43291 VAR_012482 p.Val200Leu Polymorphism rs11548457 - SPINT2 O43291 VAR_058718 p.Tyr163Cys Disease - Diarrhea type 3 (DIAR3) [MIM:270420] SPINT3 P49223 VAR_059443 p.Leu77Ser Polymorphism rs6032259 - SPINT4 Q6UDR6 VAR_036795 p.Gly73Ser Polymorphism rs6017667 - SPINT4 Q6UDR6 VAR_050068 p.Ala30Glu Polymorphism rs16990631 - SPIRE1 Q08AE8 VAR_058695 p.Gln249Pro Polymorphism rs1785296 - SPN P16150 VAR_051091 p.Thr22Ile Polymorphism rs2229653 - SPN P16150 VAR_051092 p.Thr93Ala Polymorphism rs2229654 - SPNS1 Q9H2V7 VAR_035157 p.Ala230Pro Polymorphism rs17855956 - SPNS3 Q6ZMD2 VAR_035158 p.Gly293Arg Polymorphism rs34457931 - SPNS3 Q6ZMD2 VAR_035159 p.Ala330Ser Polymorphism rs11655342 - SPNS3 Q6ZMD2 VAR_035968 p.Ala507Thr Unclassified - A colorectal cancer sample SPO11 Q9Y5K1 VAR_023307 p.Thr36Ala Polymorphism rs28368062 - SPO11 Q9Y5K1 VAR_029246 p.Arg211Trp Polymorphism rs28368082 - SPO11 Q9Y5K1 VAR_052596 p.Met91Val Polymorphism rs3736832 - SPO11 Q9Y5K1 VAR_052597 p.Ala202Val Polymorphism rs17406460 - SPOCD1 Q6ZMY3 VAR_035660 p.Arg671Trp Unclassified - A breast cancer sample SPOCD1 Q6ZMY3 VAR_051379 p.Thr109Ala Polymorphism rs6664445 - SPOCD1 Q6ZMY3 VAR_051380 p.Arg436Trp Polymorphism rs6669563 - SPOCK2 Q92563 VAR_022020 p.Gly353Ser Polymorphism rs2306322 - SPOCK3 Q9BQ16 VAR_051562 p.Ile112Val Polymorphism rs9685645 - SPON2 Q9BUD6 VAR_019701 p.Leu40Pro Polymorphism rs922697 - SPON2 Q9BUD6 VAR_019702 p.Glu122Ala Polymorphism rs11247975 - SPON2 Q9BUD6 VAR_019703 p.Val242Leu Polymorphism rs2279279 - SPON2 Q9BUD6 VAR_055149 p.Arg38Gly Polymorphism rs6836335 - SPOPL Q6IQ16 VAR_053719 p.Arg45Gln Polymorphism rs36099753 - SPP1 P10451 VAR_014717 p.Arg301His Polymorphism rs4660 - SPP1 P10451 VAR_050432 p.Ser224Asn Polymorphism rs7435825 - SPP2 Q13103 VAR_025698 p.Ser38Phe Polymorphism rs34347825 - SPPL2A Q8TCT8 VAR_051790 p.Val90Ile Polymorphism rs8034443 - SPPL2B Q8TCT7 VAR_059780 p.Ser574Pro Polymorphism rs10402284 - SPPL2C Q8IUH8 VAR_038048 p.Arg123Gln Polymorphism rs17763658 - SPPL2C Q8IUH8 VAR_038049 p.Arg303His Polymorphism rs242944 - SPPL2C Q8IUH8 VAR_038050 p.Arg461Pro Polymorphism rs12185233 - SPPL2C Q8IUH8 VAR_038051 p.Ile471Val Polymorphism rs12185268 - SPPL2C Q8IUH8 VAR_038052 p.Ser601Pro Polymorphism rs12373123 - SPPL2C Q8IUH8 VAR_038053 p.Gly620Arg Polymorphism rs12373139 - SPPL2C Q8IUH8 VAR_038054 p.Pro643Arg Polymorphism rs12373142 - SPPL2C Q8IUH8 VAR_057147 p.Thr659Ile Polymorphism rs16940694 - SPPL2C Q8IUH8 VAR_060590 p.Met626Val Polymorphism - - SPRED1 Q7Z699 VAR_064827 p.Trp31Cys Disease - Neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431] SPRED1 Q7Z699 VAR_064828 p.Val44Asp Disease - Neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431] SPRN Q5BIV9 VAR_039152 p.Thr7Met Polymorphism rs2492666 - SPR P35270 VAR_058007 p.Arg150Gly Disease - Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] SPR P35270 VAR_058008 p.Pro163Leu Disease - Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] SPRR1A P35321 VAR_021097 p.His42Gln Polymorphism rs1611762 - SPRR1A P35321 VAR_021098 p.Val61Ile Polymorphism rs1611764 - SPRR1B P22528 VAR_002164 p.Gln23His Unclassified - - SPRR1B P22528 VAR_002165 p.Val61Leu Unclassified - - SPRR1B P22528 VAR_002166 p.Ala80Pro Unclassified - - SPRR1B P22528 VAR_021099 p.Thr11Ile Polymorphism rs3795382 - SPRR2B P35325 VAR_034518 p.Pro39Ser Polymorphism rs1048268 - SPRR2D P22532 VAR_053049 p.Thr20Ala Polymorphism rs1846857 - SPRR3 Q9UBC9 VAR_023377 p.Leu149Val Polymorphism rs1055935 - SPRR3 Q9UBC9 VAR_053048 p.Thr156Met Polymorphism rs2075740 - SPRR4 Q96PI1 VAR_034517 p.Pro45Ser Polymorphism rs16834786 - SPRTN Q9H040 VAR_037556 p.Pro296Leu Polymorphism rs2437150 - SPRY2 O43597 VAR_024647 p.Pro106Ser Polymorphism rs504122 - SPRY3 O43610 VAR_034519 p.Ala161Thr Polymorphism rs35474915 - SPRYD4 Q8WW59 VAR_051381 p.Met50Thr Polymorphism rs2657881 - SPSB3 Q6PJ21 VAR_052034 p.Ser171Leu Polymorphism rs35816944 - SPTA1 P02549 VAR_001324 p.Ile24Ser Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001325 p.Arg28His Disease rs28934004 Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001326 p.Arg28Leu Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001327 p.Arg28Ser Disease rs28934005 Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001328 p.Arg28Cys Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001329 p.Val31Ala Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001330 p.Arg34Trp Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001331 p.Arg41Trp Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001332 p.Arg45Ser Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001333 p.Arg45Thr Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001334 p.Gly46Val Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001335 p.Lys48Arg Disease - Hereditary pyropoikilocytosis (HPP) [MIM:266140] SPTA1 P02549 VAR_001336 p.Leu49Phe Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001337 p.Gly151Asp Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001339 p.Leu207Pro Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001339 p.Leu207Pro Disease - Hereditary pyropoikilocytosis (HPP) [MIM:266140] SPTA1 P02549 VAR_001340 p.Leu260Pro Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001341 p.Ser261Pro Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001342 p.His469Pro Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001344 p.Gln471Pro Disease - Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001345 p.Arg701His Polymorphism rs12090314 - SPTA1 P02549 VAR_001346 p.Asp791Glu Disease rs7418956 Elliptocytosis type 2 (EL2) [MIM:130600] SPTA1 P02549 VAR_001347 p.Ile809Val Polymorphism rs7547313 - SPTA1 P02549 VAR_001348 p.Thr853Arg Polymorphism rs35121052 - SPTA1 P02549 VAR_001349 p.Ala970Asp Polymorphism rs35948326 - SPTA1 P02549 VAR_001350 p.Leu1858Val Polymorphism rs3737515 - SPTA1 P02549 VAR_001351 p.Ala2025Gly Unclassified - - SPTA1 P02549 VAR_038506 p.Ser109Phe Polymorphism rs3737521 - SPTA1 P02549 VAR_038507 p.Asp152Asn Polymorphism rs16840544 - SPTA1 P02549 VAR_038508 p.Ala766Thr Polymorphism rs11265047 - SPTA1 P02549 VAR_038509 p.Ala957Val Polymorphism rs34706737 - SPTA1 P02549 VAR_038510 p.Ser1163Ala Polymorphism rs2482965 - SPTA1 P02549 VAR_038511 p.Arg1330Ile Polymorphism rs34214405 - SPTA1 P02549 VAR_038512 p.Cys1568Arg Polymorphism rs863931 - SPTA1 P02549 VAR_059199 p.Lys1693Gln Polymorphism rs857725 - SPTA1 P02549 VAR_059200 p.Asn1836Ser Polymorphism rs16830483 - SPTA1 P02549 VAR_059201 p.Ile2265Thr Polymorphism rs952094 - SPTAN1 Q13813 VAR_012227 p.Ile1300Thr Polymorphism rs1048236 - SPTAN1 Q13813 VAR_035454 p.Ser904Cys Unclassified - A breast cancer sample SPTAN1 Q13813 VAR_035455 p.Pro1017Ser Unclassified - A breast cancer sample SPTAN1 Q13813 VAR_035456 p.Arg1794Trp Unclassified - A breast cancer sample SPTAN1 Q13813 VAR_035457 p.Asp1918Asn Unclassified - A breast cancer sample SPTAN1 Q13813 VAR_038513 p.Asn385Ser Polymorphism rs2227863 - SPTBN1 Q01082 VAR_032641 p.Asp1411His Polymorphism rs1052790 - SPTBN2 O15020 VAR_026767 p.Leu253Pro Disease - Spinocerebellar ataxia type 5 (SCA5) [MIM:600224] SPTBN2 O15020 VAR_026770 p.Ser825Gly Polymorphism rs4930388 - SPTBN2 O15020 VAR_026771 p.Val1034Ala Polymorphism rs506028 - SPTBN2 O15020 VAR_035458 p.Glu774Lys Unclassified - A colorectal cancer sample SPTBN2 O15020 VAR_048631 p.Glu835Lys Polymorphism rs36054877 - SPTBN4 Q9H254 VAR_048632 p.Gly1331Ser Polymorphism rs814501 - SPTBN5 Q9NRC6 VAR_022050 p.Arg1345His Polymorphism rs2290559 - SPTBN5 Q9NRC6 VAR_024395 p.Arg1367Thr Polymorphism rs2290558 - SPTBN5 Q9NRC6 VAR_024396 p.Gln2862Arg Polymorphism rs1456235 - SPTBN5 Q9NRC6 VAR_024397 p.Ala3275Gly Polymorphism rs1197660 - SPTB P11277 VAR_001352 p.Trp202Arg Unclassified - - SPTB P11277 VAR_001353 p.Ser439Asn Polymorphism rs229587 - SPTB P11277 VAR_001354 p.Asn1151Asp Polymorphism rs77806 - SPTB P11277 VAR_001355 p.His1374Arg Polymorphism rs10132778 - SPTB P11277 VAR_001356 p.Arg1403Gln Polymorphism rs17180350 - SPTB P11277 VAR_001357 p.Ala2018Gly Disease - Elliptocytosis type 3 (EL3) [MIM:182870] SPTB P11277 VAR_001358 p.Ser2019Pro Disease - Elliptocytosis type 3 (EL3) [MIM:182870] SPTB P11277 VAR_001359 p.Ala2023Val Disease - Elliptocytosis type 3 (EL3) [MIM:182870] SPTB P11277 VAR_001360 p.Trp2024Arg Disease - Elliptocytosis type 3 (EL3) [MIM:182870] SPTB P11277 VAR_001361 p.Leu2025Arg Disease - Elliptocytosis type 3 (EL3) [MIM:182870] SPTB P11277 VAR_001362 p.Ala2053Pro Disease - Elliptocytosis type 3 (EL3) [MIM:182870] SPTB P11277 VAR_038514 p.Ser613Ile Polymorphism rs3742601 - SPTB P11277 VAR_038515 p.Gly1408Arg Polymorphism rs17245552 - SPTB P11277 VAR_061084 p.Glu525Lys Polymorphism rs55752508 - SPTLC1 O15269 VAR_011392 p.Cys133Trp Disease - Hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400] SPTLC1 O15269 VAR_011393 p.Cys133Tyr Disease - Hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400] SPTLC1 O15269 VAR_011394 p.Val144Asp Disease - Hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400] SPTLC1 O15269 VAR_036610 p.Arg239Trp Unclassified - A breast cancer sample SPTLC1 O15269 VAR_037889 p.Arg151Leu Polymorphism rs45461899 - SPTLC1 O15269 VAR_037890 p.Gly387Ala Polymorphism - - SPTLC2 O15270 VAR_064798 p.Val359Met Disease - Hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640] SPTLC2 O15270 VAR_064799 p.Gly382Val Disease - Hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640] SPTLC2 O15270 VAR_064800 p.Ile504Phe Disease - Hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640] SPTLC3 Q9NUV7 VAR_048230 p.Leu140Val Polymorphism rs243887 - SPTY2D1 Q68D10 VAR_038298 p.Ser317Phe Polymorphism rs12795406 - SPTY2D1 Q68D10 VAR_038299 p.Arg447Gln Polymorphism rs16935599 - SPTY2D1 Q68D10 VAR_038300 p.Lys617Arg Polymorphism rs35411689 - SPZ1 Q9BXG8 VAR_031160 p.Val17Leu Polymorphism rs1862136 - SPZ1 Q9BXG8 VAR_031161 p.Glu302Lys Polymorphism rs6867419 - SQRDL Q9Y6N5 VAR_014959 p.Ile264Thr Polymorphism rs1044032 - SQSTM1 Q13501 VAR_023590 p.Ala117Val Polymorphism - - SQSTM1 Q13501 VAR_023591 p.Glu274Gln Polymorphism - - SQSTM1 Q13501 VAR_023592 p.Pro387Leu Disease - Paget disease of bone (PDB) [MIM:602080] SQSTM1 Q13501 VAR_023593 p.Pro392Leu Disease - Paget disease of bone (PDB) [MIM:602080] SQSTM1 Q13501 VAR_023594 p.Ser399Pro Disease - Paget disease of bone (PDB) [MIM:602080] SQSTM1 Q13501 VAR_023595 p.Met404Thr Disease - Paget disease of bone (PDB) [MIM:602080] SQSTM1 Q13501 VAR_023596 p.Met404Val Disease - Paget disease of bone (PDB) [MIM:602080] SQSTM1 Q13501 VAR_023597 p.Gly411Ser Disease - Paget disease of bone (PDB) [MIM:602080] SQSTM1 Q13501 VAR_023598 p.Gly425Arg Disease - Paget disease of bone (PDB) [MIM:602080] SQSTM1 Q13501 VAR_061707 p.Glu274Asp Polymorphism rs55793208 - SRA1 Q9HD15 VAR_052060 p.Gln32Glu Polymorphism rs35610885 - SRBD1 Q8N5C6 VAR_056995 p.Thr361Met Polymorphism rs6544834 - SRBD1 Q8N5C6 VAR_056996 p.Val798Phe Polymorphism rs3755073 - SRBD1 Q8N5C6 VAR_056997 p.Lys811Arg Polymorphism rs3755072 - SRC P12931 VAR_041830 p.Ala237Thr Polymorphism rs34881773 - SRC P12931 VAR_051699 p.Leu176Phe Polymorphism rs6018260 - SRCRB4D Q8WTU2 VAR_052063 p.Arg128His Polymorphism rs4728712 - SRD5A2 P31213 VAR_005609 p.Arg246Trp Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013104 p.Ala49Thr Polymorphism rs9282858 - SRD5A2 P31213 VAR_013105 p.Leu55Gln Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013106 p.Gly115Asp Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013108 p.Gly183Ser Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013109 p.Gly196Ser Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013110 p.Glu197Asp Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013111 p.Pro212Arg Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013112 p.Ala228Thr Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013113 p.His231Arg Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013130 p.Gly85Asp Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013131 p.Val89Leu Polymorphism rs523349 - SRD5A2 P31213 VAR_013132 p.Glu200Lys Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013133 p.Ser245Tyr Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_013134 p.Arg246Gln Disease rs9332967 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_022302 p.Leu113Val Polymorphism rs28383048 - SRD5A2 P31213 VAR_025851 p.Arg145Trp Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025852 p.Pro181Leu Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025853 p.Tyr235Phe Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025854 p.Gly123Arg Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025855 p.Gln126Arg Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025856 p.Gly158Arg Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_025857 p.Ala207Asp Disease - Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] SRD5A2 P31213 VAR_037585 p.Leu224Met Polymorphism rs9332963 - SRD5A2 P31213 VAR_037586 p.Arg227Gln Polymorphism rs9332964 - SRD5A2 P31213 VAR_059791 p.Gly203Ser Polymorphism rs9332961 - SRD5A2 P31213 VAR_059792 p.Leu224His Polymorphism rs9332963 - SREBF1 P36956 VAR_038468 p.Asn306Ser Polymorphism rs17855793 - SREBF1 P36956 VAR_038469 p.Ala309Thr Polymorphism rs35188700 - SREBF1 P36956 VAR_038470 p.Val417Met Polymorphism rs2229590 - SREBF1 P36956 VAR_038471 p.Val580Met Polymorphism rs36215896 - SREBF1 P36956 VAR_038472 p.Arg746His Polymorphism rs2228461 - SREBF1 P36956 VAR_038473 p.Ser834Leu Polymorphism rs17855792 - SREBF1 P36956 VAR_038474 p.Thr1000Ala Polymorphism rs1042017 - SREBF1 P36956 VAR_038475 p.Ala1008Pro Polymorphism rs35014224 - SREBF2 Q12772 VAR_028440 p.Gly595Ala Polymorphism rs2228314 - SREBF2 Q12772 VAR_028441 p.Val623Met Polymorphism rs2229440 - SREBF2 Q12772 VAR_036394 p.Ala273Ser Unclassified - A breast cancer sample SREBF2 Q12772 VAR_036395 p.Asn347Lys Unclassified - A breast cancer sample SREBF2 Q12772 VAR_049550 p.Met536Leu Polymorphism rs17002714 - SREBF2 Q12772 VAR_049551 p.Arg860Ser Polymorphism rs2228313 - SRGAP2 O75044 VAR_055834 p.Arg874Gly Polymorphism rs17018890 - SRGAP3 O43295 VAR_035550 p.Leu623Ile Unclassified - A breast cancer sample SRGAP3 O43295 VAR_049159 p.Ile628Val Polymorphism rs2271207 - SRGN P10124 VAR_032761 p.Arg31Gln Polymorphism rs2805910 - SRM P19623 VAR_011807 p.Leu149Val Polymorphism rs1049932 - SRMS Q9H3Y6 VAR_041831 p.Arg73Cys Polymorphism rs56053583 - SRMS Q9H3Y6 VAR_041832 p.Gly75Arg Polymorphism rs55863722 - SRMS Q9H3Y6 VAR_041833 p.Ile88Val Polymorphism rs35558836 - SRMS Q9H3Y6 VAR_041834 p.Val301Leu Polymorphism rs310657 - SRMS Q9H3Y6 VAR_041835 p.Asp377Glu Polymorphism rs55838540 - SRMS Q9H3Y6 VAR_041836 p.Ala397Val Polymorphism rs6011889 - SRMS Q9H3Y6 VAR_041837 p.Pro452Leu Polymorphism rs8120713 - SRMS Q9H3Y6 VAR_041838 p.Ala453Thr Polymorphism rs310655 - SRMS Q9H3Y6 VAR_041839 p.Val457Leu Polymorphism rs310654 - SRMS Q9H3Y6 VAR_041840 p.Ser465Thr Polymorphism rs33933649 - SRMS Q9H3Y6 VAR_051700 p.Pro218Leu Polymorphism rs378483 - SRMS Q9H3Y6 VAR_051701 p.Val255Met Polymorphism rs34969822 - SRMS Q9H3Y6 VAR_051702 p.Pro325Leu Polymorphism rs8122355 - SRP14 P37108 VAR_028057 p.Pro51Ser Polymorphism rs1802601 - SRP14 P37108 VAR_028058 p.Ser68Ile Polymorphism rs1802600 - SRP14 P37108 VAR_028059 p.Pro124Ala Polymorphism rs7535 - SRP14 P37108 VAR_028060 p.Thr125Ala Polymorphism rs16924476 - SRP14 P37108 VAR_028061 p.Ala127Thr Polymorphism rs16924521 - SRP14 P37108 VAR_028062 p.Thr130Ala Polymorphism rs4814 - SRP19 P09132 VAR_027800 p.Ala4Thr Polymorphism rs17855423 - SRPK1 Q96SB4 VAR_051669 p.Ile72Thr Polymorphism rs35519113 - SRPK2 P78362 VAR_041114 p.Pro43Leu Polymorphism rs34699980 - SRPK2 P78362 VAR_041115 p.Gly243Asp Unclassified - A glioblastoma multiforme sample SRPK2 P78362 VAR_041116 p.Thr426Pro Polymorphism rs55743527 - SRPK2 P78362 VAR_041117 p.Ser486Phe Polymorphism rs56112661 - SRPK2 P78362 VAR_041118 p.Pro515Thr Polymorphism rs56017595 - SRPK2 P78362 VAR_057111 p.Leu615Ile Polymorphism rs1050418 - SRPK2 P78362 VAR_060390 p.Ser608Asn Polymorphism rs1050413 - SRPK3 Q9UPE1 VAR_041119 p.Arg101Cys Polymorphism rs55910507 - SRPK3 Q9UPE1 VAR_041120 p.Gly114Glu Polymorphism rs35865042 - SRPK3 Q9UPE1 VAR_041121 p.Glu233Lys Polymorphism rs34497419 - SRPRB Q9Y5M8 VAR_057335 p.Val9Leu Polymorphism rs1107413 - SRPX2 O60687 VAR_030312 p.Tyr72Ser Disease - Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) [MIM:300643] SRPX2 O60687 VAR_030313 p.Thr287Ser Polymorphism rs17851822 - SRPX2 O60687 VAR_030314 p.Asn327Ser Disease - Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) [MIM:300643] SRPX P78539 VAR_005625 p.Pro225Ser Polymorphism rs1123773 - SRPX P78539 VAR_005626 p.Ser413Phe Polymorphism rs35318931 - SRRD Q9UH36 VAR_052064 p.Ala99Thr Polymorphism rs4820682 - SRRM1 Q8IYB3 VAR_024065 p.Arg170His Polymorphism rs17857102 - SRRM2 Q9UQ35 VAR_027259 p.Pro804Thr Polymorphism rs2240140 - SRRM2 Q9UQ35 VAR_027260 p.Ser883Cys Polymorphism rs17136053 - SRRM2 Q9UQ35 VAR_048868 p.Thr856Arg Polymorphism rs12185191 - SRRM4 A7MD48 VAR_037339 p.Ser243Asn Polymorphism rs7297606 - SRRM4 A7MD48 VAR_037340 p.Arg406Gln Polymorphism rs2723880 - SRRM4 A7MD48 VAR_037341 p.Arg547Ser Polymorphism rs2555273 - SRSF1 Q07955 VAR_035488 p.Pro89Ser Unclassified - A breast cancer sample SRSF4 Q08170 VAR_052230 p.Glu253Asp Polymorphism rs2230679 - SRSF4 Q08170 VAR_052231 p.Gly338Ala Polymorphism rs2230677 - SRSF4 Q08170 VAR_052232 p.Gly356Ser Polymorphism rs2230678 - SRSF4 Q08170 VAR_052233 p.Gln438Glu Polymorphism rs1049928 - SRSF5 Q13243 VAR_014713 p.Ala160Ser Polymorphism rs1057683 - SRSF6 Q13247 VAR_035489 p.Arg145Gln Unclassified - A colorectal cancer sample SRY Q05066 VAR_003717 p.Ser18Asn Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003718 p.Val60Ala Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003719 p.Val60Leu Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003720 p.Arg62Gly Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003721 p.Met64Ile Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003722 p.Ile68Thr Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003723 p.Met78Thr Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003724 p.Ile90Met Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003725 p.Ser91Gly Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003726 p.Gly95Arg Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003727 p.Leu101His Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003728 p.Lys106Ile Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003729 p.Pro108Arg Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003730 p.Phe109Ser Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003731 p.Ala113Thr Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003732 p.Pro125Leu Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003733 p.Tyr127Cys Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_003734 p.Arg133Trp Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017298 p.Met64Arg Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017299 p.Phe67Val Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017300 p.Arg76Ser Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017301 p.Asn87Tyr Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017302 p.Gly95Glu Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017303 p.Tyr127Phe Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_017304 p.Pro131Arg Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SRY Q05066 VAR_030019 p.Ser3Leu Disease - 46,XY sex reversal type 1 (SRXY1) [MIM:400044] SS18L1 O75177 VAR_053691 p.Ala321Thr Polymorphism rs36106901 - SS18L1 O75177 VAR_062534 p.Met189Ile Polymorphism rs17853304 - SSB P05455 VAR_034066 p.Pro48Ser Polymorphism rs17160793 - SSFA2 P28290 VAR_031186 p.Arg833Trp Polymorphism rs13419020 - SSFA2 P28290 VAR_031187 p.Pro836Leu Polymorphism rs17647806 - SSFA2 P28290 VAR_056998 p.Ala817Val Polymorphism rs16867510 - SSFA2 P28290 VAR_059724 p.Tyr1258Asn Polymorphism rs2303554 - SSH2 Q76I76 VAR_051758 p.Ser743Leu Polymorphism rs2289629 - SSH2 Q76I76 VAR_051759 p.Val763Ala Polymorphism rs6505140 - SSH2 Q76I76 VAR_051760 p.His1300Gln Polymorphism rs8080046 - SSH3 Q8TE77 VAR_057132 p.Glu239Val Polymorphism rs7114712 - SSH3 Q8TE77 VAR_057133 p.Arg600His Polymorphism rs1573536 - SSNA1 O43805 VAR_036343 p.Lys17Asn Unclassified - A breast cancer sample SSPN Q14714 VAR_051384 p.Ser186Asn Polymorphism rs12313670 - SSPN Q14714 VAR_051385 p.Val228Ile Polymorphism rs12313736 - SSPO A2VEC9 VAR_052660 p.Gln146Arg Polymorphism rs709061 - SSPO A2VEC9 VAR_052661 p.Val298Met Polymorphism rs17754559 - SSPO A2VEC9 VAR_052662 p.Leu1273Pro Polymorphism rs709060 - SSPO A2VEC9 VAR_059863 p.Val539Met Polymorphism rs855677 - SSPO A2VEC9 VAR_059864 p.Ser1272Pro Polymorphism rs709060 - SSPO A2VEC9 VAR_059865 p.Ser1424Gly Polymorphism rs855691 - SSPO A2VEC9 VAR_059866 p.Pro1448Gln Polymorphism rs855692 - SSPO A2VEC9 VAR_059867 p.Pro1453Arg Polymorphism rs2074704 - SSPO A2VEC9 VAR_059868 p.Ser1778Pro Polymorphism rs893601 - SSPO A2VEC9 VAR_059869 p.Leu1793Pro Polymorphism rs1635802 - SSPO A2VEC9 VAR_059870 p.Arg1882Cys Polymorphism rs1076277 - SSPO A2VEC9 VAR_059871 p.Thr2017Met Polymorphism rs4725314 - SSPO A2VEC9 VAR_059872 p.Leu2891Val Polymorphism rs10260959 - SSPO A2VEC9 VAR_059873 p.Arg3273Trp Polymorphism rs740109 - SSPO A2VEC9 VAR_059874 p.Asn3512Ser Polymorphism rs10952230 - SSPO A2VEC9 VAR_059875 p.Cys3892Trp Polymorphism rs1557955 - SSPO A2VEC9 VAR_059876 p.Arg3909Cys Polymorphism rs745044 - SSPO A2VEC9 VAR_059877 p.Ser4028Ile Polymorphism rs1005603 - SSPO A2VEC9 VAR_059878 p.His4164Arg Polymorphism rs10233245 - SSPO A2VEC9 VAR_059879 p.Arg4330Cys Polymorphism rs1008336 - SSPO A2VEC9 VAR_059880 p.His4787Arg Polymorphism rs1004200 - SSPO A2VEC9 VAR_059881 p.Glu4941Lys Polymorphism rs12534509 - SSPO A2VEC9 VAR_061915 p.Met2452Thr Polymorphism rs2074689 - SSPO A2VEC9 VAR_061916 p.Arg2541Gln Polymorphism rs59522380 - SSPO A2VEC9 VAR_061917 p.Gln4107His Polymorphism rs12536873 - SSR1 P43307 VAR_022427 p.Leu28Ser Polymorphism rs10004 - SSR4 P51571 VAR_064161 p.Gly144Arg Polymorphism - - SSRP1 Q08945 VAR_052495 p.Leu225Val Polymorphism rs768436 - SSRP1 Q08945 VAR_052496 p.Glu458Gln Polymorphism rs11540304 - SSSCA1 O60232 VAR_051383 p.Thr21Met Polymorphism rs35971725 - SST P61278 VAR_034499 p.Ala11Val Polymorphism rs35603672 - SST P61278 VAR_034500 p.Asn61Thr Polymorphism rs33934967 - SSTR3 P32745 VAR_011853 p.Ser411Thr Polymorphism rs229568 - SSTR3 P32745 VAR_020072 p.Ser251Phe Polymorphism rs6413537 - SSTR3 P32745 VAR_029219 p.Ala33Val Polymorphism rs4988466 - SSTR3 P32745 VAR_029220 p.Arg336Cys Polymorphism rs4988469 - SSTR3 P32745 VAR_029221 p.Arg414His Polymorphism rs4988471 - SSTR3 P32745 VAR_049440 p.Pro37Leu Polymorphism rs34943557 - SSTR4 P31391 VAR_011703 p.Asn83Thr Polymorphism rs1065191 - SSTR4 P31391 VAR_021560 p.Phe284Val Polymorphism rs3746726 - SSTR4 P31391 VAR_021561 p.Phe321Ser Polymorphism rs2567608 - SSTR4 P31391 VAR_049441 p.Gly236Asp Polymorphism rs35601930 - SSTR5 P35346 VAR_020073 p.Pro335Leu Polymorphism rs169068 - SSTR5 P35346 VAR_029222 p.Gly37Arg Polymorphism rs4988482 - SSTR5 P35346 VAR_029223 p.Leu48Met Polymorphism rs4988483 - SSTR5 P35346 VAR_029224 p.Ala52Val Polymorphism rs4988484 - SSTR5 P35346 VAR_029225 p.Pro109Ser Polymorphism rs4988487 - SSTR5 P35346 VAR_029226 p.Thr333Met Polymorphism rs12596873 - SSTR5 P35346 VAR_033484 p.Trp105Arg Polymorphism rs34803074 - SSTR5 P35346 VAR_033485 p.Leu251Ser Polymorphism rs34474910 - SSTR5 P35346 VAR_033486 p.Arg339Lys Polymorphism rs35072648 - SSTR5 P35346 VAR_049442 p.Arg234Cys Polymorphism rs34070276 - SSTR5 P35346 VAR_049443 p.Val267Ile Polymorphism rs35125411 - SSTR5 P35346 VAR_049444 p.Gly357Arg Polymorphism rs34947461 - SSUH2 Q9Y2M2 VAR_033659 p.Pro29Leu Polymorphism rs2276800 - SSX2IP Q9Y2D8 VAR_056726 p.Cys578Arg Polymorphism rs1057746 - SSX5 O60225 VAR_027805 p.Glu19Gln Polymorphism rs4824675 - SSX6 Q7RTT6 VAR_053692 p.Arg90Cys Polymorphism rs5952474 - SSX6 Q7RTT6 VAR_053693 p.Lys138Gln Polymorphism rs17327911 - SSX7 Q7RTT5 VAR_053694 p.Leu43Ser Polymorphism rs3122210 - SSX9 Q7RTT3 VAR_053695 p.Cys72Arg Polymorphism rs4598385 - SSX9 Q7RTT3 VAR_060113 p.Ser97Pro Polymorphism rs6609702 - ST13P4 Q8IZP2 VAR_023644 p.Ser71Leu Polymorphism - - ST13 P50502 VAR_011900 p.Met297Ile Polymorphism rs710193 - ST14 Q9Y5Y6 VAR_032847 p.Met285Ile Polymorphism rs7126904 - ST14 Q9Y5Y6 VAR_032848 p.Arg381Ser Polymorphism rs17667603 - ST14 Q9Y5Y6 VAR_032849 p.Gly827Arg Disease - Ichthyosis autosomal recessive with hypotrichosis (ARIH) [MIM:610765] ST18 O60284 VAR_052732 p.Arg515Cys Polymorphism rs2303460 - ST20 Q9HBF5 VAR_044034 p.Pro57Leu Polymorphism rs7257 - ST3GAL1 Q11201 VAR_049225 p.Asn111Ser Polymorphism rs2230544 - ST3GAL5 Q9UNP4 VAR_025510 p.His104Arg Polymorphism rs3731824 - ST3GAL6 Q9Y274 VAR_049227 p.Ala311Thr Polymorphism rs28489284 - ST5 P78524 VAR_027101 p.Lys316Asn Polymorphism rs3794153 - ST5 P78524 VAR_027102 p.Asp399Glu Polymorphism rs3812762 - ST5 P78524 VAR_027103 p.Ile620Thr Polymorphism rs17853683 - ST5 P78524 VAR_027104 p.Ser774Gly Polymorphism rs17853682 - ST5 P78524 VAR_030642 p.Ser657Phe Polymorphism rs11042047 - ST6GAL2 Q96JF0 VAR_038046 p.Gly154Arg Polymorphism rs3796110 - ST6GAL2 Q96JF0 VAR_038047 p.Ile341Val Polymorphism rs12615112 - ST6GALNAC Q8NDV1 VAR_055846 p.Leu223Ile Polymorphism rs1184626 - ST6GALNAC Q9NSC7 VAR_021514 p.Val80Ala Polymorphism rs8077382 - ST6GALNAC Q9NSC7 VAR_049226 p.Ile424Val Polymorphism rs35948039 - ST7L Q8TDW4 VAR_043934 p.Arg451Gln Polymorphism rs6658555 - ST7L Q8TDW4 VAR_043935 p.Ala455Thr Polymorphism rs3736764 - ST7L Q8TDW4 VAR_043936 p.Gly571Asp Polymorphism rs12069022 - ST7 Q9NRC1 VAR_043932 p.Ala186Thr Polymorphism - - ST7 Q9NRC1 VAR_043933 p.Ile361Val Polymorphism - - ST8SIA3 O43173 VAR_020249 p.Lys91Thr Polymorphism rs3745060 - ST8SIA4 Q92187 VAR_036169 p.Glu92Gly Unclassified - A colorectal cancer sample STAB1 Q9NY15 VAR_019078 p.Met2506Thr Polymorphism rs13303 - STAB1 Q9NY15 VAR_055774 p.Gly1127Arg Polymorphism rs2286786 - STAB1 Q9NY15 VAR_055775 p.Ile2282Val Polymorphism rs4434138 - STAB1 Q9NY15 VAR_060338 p.Leu672Met Polymorphism rs12636502 - STAB1 Q9NY15 VAR_060339 p.Met912Val Polymorphism rs9835659 - STAB1 Q9NY15 VAR_060340 p.Ala1833Pro Polymorphism rs7630214 - STAB2 Q8WWQ8 VAR_019541 p.Pro510His Polymorphism rs1609860 - STAB2 Q8WWQ8 VAR_048995 p.Ile110Val Polymorphism rs17034186 - STAB2 Q8WWQ8 VAR_048996 p.Glu306Lys Polymorphism rs12319476 - STAB2 Q8WWQ8 VAR_048997 p.Arg787Gln Polymorphism rs17034336 - STAB2 Q8WWQ8 VAR_048998 p.Arg881His Polymorphism rs7973658 - STAB2 Q8WWQ8 VAR_048999 p.Asn1736Thr Polymorphism rs17034433 - STAB2 Q8WWQ8 VAR_049000 p.Pro2039Thr Polymorphism rs7306642 - STAB2 Q8WWQ8 VAR_049001 p.Leu2401Val Polymorphism rs2271637 - STAB2 Q8WWQ8 VAR_049002 p.Tyr2519Ser Polymorphism rs3751197 - STAC Q99469 VAR_034505 p.Asn262Ser Polymorphism rs7634545 - STAG1 Q8WVM7 VAR_046968 p.Gln1132His Polymorphism rs34149860 - STAG2 Q8N3U4 VAR_060114 p.Asn699Lys Polymorphism rs6655782 - STAG3L4 Q8TBR4 VAR_039255 p.Glu116Gln Polymorphism rs1045513 - STAMBPL1 Q96FJ0 VAR_051817 p.Ser196Asn Polymorphism rs12254856 - STAMBPL1 Q96FJ0 VAR_051818 p.Glu204Lys Polymorphism rs34270879 - STAMBPL1 Q96FJ0 VAR_051819 p.Ala210Thr Polymorphism rs9988723 - STAM Q92783 VAR_036348 p.Gly212Asp Unclassified - A colorectal cancer sample STAP2 Q9UGK3 VAR_055239 p.Asp93Asn Polymorphism rs7247504 - STARD13 Q9Y3M8 VAR_022098 p.Lys250Arg Polymorphism rs3742321 - STARD13 Q9Y3M8 VAR_037494 p.Thr175Met Polymorphism rs9568878 - STARD13 Q9Y3M8 VAR_037495 p.Arg383Pro Polymorphism rs34425674 - STARD13 Q9Y3M8 VAR_037496 p.Asn798Ser Polymorphism rs35144435 - STARD3 Q14849 VAR_027877 p.Arg117Gln Polymorphism rs1877031 - STARD3 Q14849 VAR_027878 p.Gly216Ala Polymorphism rs11556624 - STARD5 Q9NSY2 VAR_052071 p.Gly74Ser Polymorphism rs4384572 - STARD6 P59095 VAR_024651 p.Glu159Lys Polymorphism rs2917782 - STARD7 Q9NQZ5 VAR_020345 p.Arg140Pro Polymorphism rs2276650 - STARD8 Q92502 VAR_036588 p.Gly188Ser Unclassified - A breast cancer sample STARD8 Q92502 VAR_036589 p.Glu242Lys Unclassified - A breast cancer sample STARD8 Q92502 VAR_061816 p.Arg327Gln Polymorphism rs55962426 - STARD9 Q9P2P6 VAR_037257 p.Arg1172Cys Polymorphism rs12594837 - STARD9 Q9P2P6 VAR_037258 p.Pro1720Leu Polymorphism rs7161810 - STARD9 Q9P2P6 VAR_037259 p.Ala2205Val Polymorphism rs16957055 - STARD9 Q9P2P6 VAR_037260 p.Arg2677His Polymorphism rs8030587 - STARD9 Q9P2P6 VAR_037261 p.Thr2855Ile Polymorphism rs8031218 - STARD9 Q9P2P6 VAR_037262 p.Pro2869Ser Polymorphism rs11857283 - STARD9 Q9P2P6 VAR_037263 p.Arg3015Gly Polymorphism rs3742995 - STARD9 Q9P2P6 VAR_037264 p.Asn3383Asp Polymorphism rs3742993 - STARD9 Q9P2P6 VAR_037266 p.Tyr3469Cys Polymorphism rs16957061 - STARD9 Q9P2P6 VAR_059811 p.Arg835Cys Polymorphism rs12594837 - STAR P49675 VAR_005627 p.Arg182Leu Disease - Adrenal hyperplasia type 1 (AH1) [MIM:201710] STAR P49675 VAR_005628 p.Ala203Asp Polymorphism rs1042854 - STAR P49675 VAR_014236 p.Glu169Gly Disease - Adrenal hyperplasia type 1 (AH1) [MIM:201710] STAR P49675 VAR_014237 p.Glu169Lys Disease - Adrenal hyperplasia type 1 (AH1) [MIM:201710] STAR P49675 VAR_014238 p.Arg217Thr Disease rs28938471 Adrenal hyperplasia type 1 (AH1) [MIM:201710] STAR P49675 VAR_014239 p.Ala218Val Disease - Adrenal hyperplasia type 1 (AH1) [MIM:201710] STAR P49675 VAR_014240 p.Met225Thr Disease - Adrenal hyperplasia type 1 (AH1) [MIM:201710] STAR P49675 VAR_014242 p.Leu275Pro Disease - Adrenal hyperplasia type 1 (AH1) [MIM:201710] STAR P49675 VAR_034520 p.Arg121Trp Polymorphism rs34908868 - STAT1 P42224 VAR_018265 p.Leu600Pro Disease - STAT1 deficiency complete (STAT1D) [MIM:613796] STAT1 P42224 VAR_018266 p.Leu706Ser Disease - Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] STAT1 P42224 VAR_034521 p.Ile30Thr Polymorphism rs34255470 - STAT1 P42224 VAR_036001 p.Pro491Ala Unclassified - A breast cancer sample STAT2 P52630 VAR_014896 p.Gln66His Polymorphism rs2066816 - STAT2 P52630 VAR_014897 p.Leu220Pro Polymorphism rs2066817 - STAT2 P52630 VAR_014898 p.Thr448Met Polymorphism rs2066815 - STAT2 P52630 VAR_014899 p.Ile464Val Polymorphism rs2066811 - STAT2 P52630 VAR_014900 p.Ser501Ile Polymorphism rs2066809 - STAT2 P52630 VAR_014901 p.Met594Ile Polymorphism rs2066807 - STAT2 P52630 VAR_019213 p.Gln826His Polymorphism rs2229363 - STAT2 P52630 VAR_052072 p.Cys246Ser Polymorphism rs2228259 - STAT3 P40763 VAR_018679 p.Met143Ile Polymorphism rs17878478 - STAT3 P40763 VAR_018683 p.Gln32Lys Polymorphism rs1803125 - STAT3 P40763 VAR_037365 p.Arg382Leu Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037366 p.Arg382Gln Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037367 p.Arg382Trp Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037368 p.Phe384Leu Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037369 p.Phe384Ser Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037370 p.Thr389Ile Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037371 p.Arg423Gln Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037372 p.His437Tyr Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037374 p.Phe561Tyr Polymorphism rs1064116 - STAT3 P40763 VAR_037375 p.Ser611Asn Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037376 p.Phe621Val Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037377 p.Thr622Ile Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037378 p.Val637Leu Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037379 p.Val637Met Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT3 P40763 VAR_037381 p.Tyr657Cys Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] STAT4 Q14765 VAR_020190 p.Ile115Val Polymorphism rs3024839 - STAT4 Q14765 VAR_036002 p.Glu112Gln Unclassified - A breast cancer sample STAT4 Q14765 VAR_047939 p.Arg584Trp Polymorphism rs3024933 - STAT5A P42229 VAR_052073 p.Arg389His Polymorphism rs2230134 - STAT5B P51692 VAR_018728 p.Ala630Pro Disease - Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590] STAT5B P51692 VAR_052074 p.Ala130Val Polymorphism rs2277619 - STAT6 P42226 VAR_013094 p.Met181Arg Polymorphism rs3024952 - STAT6 P42226 VAR_059812 p.Asp419Asn Polymorphism rs11172102 - STAU2 Q9NUL3 VAR_023394 p.Met198Val Polymorphism rs949493 - STEAP1B Q6NZ63 VAR_039339 p.Ile7Val Polymorphism rs7787814 - STEAP1B Q6NZ63 VAR_039340 p.Gln29Arg Polymorphism rs16881810 - STEAP1B Q6NZ63 VAR_039341 p.Arg166Met Polymorphism rs16881812 - STEAP1B Q6NZ63 VAR_039342 p.Ile210Thr Polymorphism rs16881817 - STEAP1 Q9UHE8 VAR_053696 p.His47Gln Polymorphism rs4015375 - STEAP1 Q9UHE8 VAR_053697 p.Phe169Leu Polymorphism rs2888782 - STEAP2 Q8NFT2 VAR_057727 p.Gly214Glu Polymorphism rs13228098 - STEAP2 Q8NFT2 VAR_057728 p.Arg456Gln Polymorphism rs194524 - STEAP2 Q8NFT2 VAR_060387 p.Phe17Cys Polymorphism rs194520 - STEAP2 Q8NFT2 VAR_060388 p.Asp40Tyr Polymorphism rs17863046 - STEAP2 Q8NFT2 VAR_060389 p.Met475Ile Polymorphism rs194525 - STEAP3 Q658P3 VAR_031975 p.Ala184Thr Polymorphism rs17013371 - STEAP4 Q687X5 VAR_031976 p.Gly75Asp Polymorphism rs1981529 - STEAP4 Q687X5 VAR_031977 p.Ala122Thr Polymorphism rs34741656 - STH Q8IWL8 VAR_019548 p.Gln7Arg Polymorphism - - STIL Q15468 VAR_029870 p.Ala86Val Polymorphism rs3125630 - STIL Q15468 VAR_029871 p.His984Arg Polymorphism rs13376679 - STIL Q15468 VAR_029872 p.Pro1012Arg Polymorphism - - STIL Q15468 VAR_051386 p.Ala1145Val Polymorphism rs3766317 - STIM1 Q13586 VAR_061878 p.Pro538Ser Polymorphism rs35960304 - STK10 O94804 VAR_023827 p.Lys277Glu Disease - Testicular germ cell tumor (TGCT) [MIM:273300] STK10 O94804 VAR_041131 p.Arg268Cys Polymorphism rs35826078 - STK10 O94804 VAR_041132 p.Arg322Trp Polymorphism rs56214442 - STK10 O94804 VAR_041133 p.Thr336Ile Polymorphism rs55972616 - STK10 O94804 VAR_041134 p.Asn467Ser Polymorphism rs56063773 - STK10 O94804 VAR_041135 p.Met710Thr Polymorphism rs34936670 - STK10 O94804 VAR_041136 p.Ser853Leu Polymorphism rs56066852 - STK10 O94804 VAR_041137 p.Ser905Thr Polymorphism rs55791916 - STK10 O94804 VAR_041138 p.Cys947Tyr Polymorphism rs56355550 - STK10 O94804 VAR_051671 p.Pro480Leu Polymorphism rs34505340 - STK10 O94804 VAR_051672 p.Pro520Leu Polymorphism rs17074311 - STK10 O94804 VAR_051673 p.Ser942Asn Polymorphism rs1128204 - STK11IP Q8N1F8 VAR_038529 p.Arg393His Polymorphism rs17855575 - STK11IP Q8N1F8 VAR_038530 p.Arg410Gly Polymorphism rs17855576 - STK11IP Q8N1F8 VAR_038531 p.Val563Ile Polymorphism rs673951 - STK11IP Q8N1F8 VAR_038532 p.Ser752Phe Polymorphism rs627530 - STK11IP Q8N1F8 VAR_038533 p.Ile1085Val Polymorphism rs17853279 - STK11 Q15831 VAR_006202 p.Leu67Pro Disease - Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_007921 p.Asp194Asn Disease - Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_007922 p.Arg297Lys Disease - Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_033138 p.Tyr49Asp Unclassified - Melanoma STK11 Q15831 VAR_033139 p.Gly135Arg Unclassified - Melanoma STK11 Q15831 VAR_033140 p.Gly163Asp Disease - Testicular germ cell tumor (TGCT) [MIM:273300] STK11 Q15831 VAR_033141 p.Asp194Tyr Unclassified - Melanoma STK11 Q15831 VAR_033142 p.Trp239Cys Disease - Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_033144 p.Pro315Ser Disease - Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_041139 p.Arg87Lys Unclassified - A metastatic melanoma sample STK11 Q15831 VAR_065627 p.Glu14Lys Unclassified - Cervical cancer STK11 Q15831 VAR_065628 p.Glu16Gly Disease - Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11 Q15831 VAR_065629 p.Val66Met Unclassified - Cervical carcinoma STK11 Q15831 VAR_065630 p.Arg86Gly Unclassified - Sporadic cancer STK11 Q15831 VAR_065631 p.Gln123Arg Unclassified - Sporadic cancer STK11 Q15831 VAR_065632 p.Phe157Ser Unclassified - Sporadic cancer STK11 Q15831 VAR_065633 p.Leu160Pro Unclassified - Cervical cancer STK11 Q15831 VAR_065634 p.Gln170Pro Unclassified - Sporadic cancer STK11 Q15831 VAR_065635 p.Gly171Ser Unclassified - Colorectal cancer STK11 Q15831 VAR_065636 p.His174Arg Unclassified - Sporadic cancer STK11 Q15831 VAR_065637 p.Asp176Tyr Unclassified - Sporadic cancer STK11 Q15831 VAR_065638 p.Ile177Asn Unclassified - Sporadic cancer STK11 Q15831 VAR_065639 p.Asn181Glu Unclassified - Sporadic cancer STK11 Q15831 VAR_065640 p.Asp194Val Unclassified - Lung cancer STK11 Q15831 VAR_065641 p.Glu199Lys Unclassified - Colorectal cancer STK11 Q15831 VAR_065642 p.Glu199Gln Unclassified - Sporadic cancer STK11 Q15831 VAR_065643 p.Ala205Thr Unclassified - Sporadic cancer STK11 Q15831 VAR_065644 p.Asp208Asn Unclassified - Colorectal cancer STK11 Q15831 VAR_065645 p.Gly215Asp Unclassified - Colorectal cancer STK11 Q15831 VAR_065646 p.Ser216Phe Unclassified - Sporadic cancer STK11 Q15831 VAR_065647 p.Glu223Val Unclassified - Sporadic cancer STK11 Q15831 VAR_065648 p.Thr230Pro Unclassified - Sporadic cancer STK11 Q15831 VAR_065649 p.Phe231Leu Unclassified - Cervical cancer STK11 Q15831 VAR_065650 p.Ser232Pro Unclassified - Sporadic cancer STK11 Q15831 VAR_065651 p.Leu245Arg Unclassified - Sporadic cancer STK11 Q15831 VAR_065652 p.Thr250Pro Unclassified - Sporadic cancer STK11 Q15831 VAR_065653 p.Tyr272His Unclassified - Sporadic cancer STK11 Q15831 VAR_065654 p.Asp277Tyr Unclassified - Sporadic cancer STK11 Q15831 VAR_065655 p.Pro281Leu Unclassified - Ovarian carcinoma STK11 Q15831 VAR_065656 p.Leu285Gln Unclassified - Sporadic cancer STK11 Q15831 VAR_065657 p.Pro314His Unclassified - Colorectal cancer STK11 Q15831 VAR_065658 p.Pro324Leu Unclassified - Gastric carcinoma STK11 Q15831 VAR_065659 p.Phe354Leu Unclassified - Colorectal cancer STK11 Q15831 VAR_065660 p.Thr367Met Unclassified - Colorectal cancer STK16 O75716 VAR_041140 p.His41Arg Polymorphism rs34799131 - STK16 O75716 VAR_041141 p.Glu55Lys Polymorphism rs35947471 - STK16 O75716 VAR_041142 p.Ile77Val Polymorphism rs34282267 - STK16 O75716 VAR_041143 p.Arg266Trp Polymorphism rs17849638 - STK16 O75716 VAR_041144 p.Pro277Leu Polymorphism rs35454203 - STK17A Q9UEE5 VAR_019991 p.Lys362Glu Polymorphism rs1044141 - STK17A Q9UEE5 VAR_032823 p.Glu286Gln Polymorphism rs3779062 - STK17A Q9UEE5 VAR_041145 p.Glu126Asp Polymorphism rs56286238 - STK17A Q9UEE5 VAR_041146 p.Met167Thr Polymorphism rs35940029 - STK17B O94768 VAR_041147 p.Ser320Phe Polymorphism rs34740616 - STK19 P49842 VAR_042361 p.Asp89Asn Unclassified - A metastatic melanoma sample STK19 P49842 VAR_042362 p.Ser311Gly Polymorphism rs616634 - STK19 P49842 VAR_042363 p.Ala331Val Polymorphism rs7743647 - STK19 P49842 VAR_051387 p.Ala39Asp Polymorphism rs34843142 - STK24 Q9Y6E0 VAR_041148 p.Ala414Val Polymorphism rs55953606 - STK24 Q9Y6E0 VAR_041149 p.Leu426Ile Polymorphism rs55897869 - STK25 O00506 VAR_051674 p.Gln64His Polymorphism rs34341643 - STK31 Q9BXU1 VAR_031600 p.Gln71His Polymorphism rs6945306 - STK31 Q9BXU1 VAR_031601 p.Glu261Lys Polymorphism rs10264952 - STK31 Q9BXU1 VAR_031602 p.Lys268Asn Polymorphism rs10264967 - STK31 Q9BXU1 VAR_031603 p.Thr362Pro Polymorphism rs35545265 - STK31 Q9BXU1 VAR_031604 p.Gly410Glu Polymorphism rs4722266 - STK31 Q9BXU1 VAR_031605 p.Lys1009Thr Polymorphism rs33998018 - STK31 Q9BXU1 VAR_041150 p.Ser125Phe Polymorphism rs56268851 - STK31 Q9BXU1 VAR_041151 p.Ile277Lys Polymorphism rs55950645 - STK31 Q9BXU1 VAR_041152 p.Ala393Thr Polymorphism rs56244148 - STK31 Q9BXU1 VAR_041153 p.Ala489Pro Polymorphism rs34414354 - STK31 Q9BXU1 VAR_041154 p.Ala600Thr Polymorphism rs55796076 - STK31 Q9BXU1 VAR_041155 p.Asn621Lys Polymorphism rs10263079 - STK31 Q9BXU1 VAR_041156 p.Ser623Ile Polymorphism rs10247878 - STK31 Q9BXU1 VAR_041157 p.His684Arg Polymorphism rs41273999 - STK31 Q9BXU1 VAR_041158 p.His684Tyr Unclassified - A lung neuroendocrine carcinoma sample STK31 Q9BXU1 VAR_041159 p.Glu709Lys Polymorphism rs56181834 - STK31 Q9BXU1 VAR_041160 p.Val860Leu Unclassified - A lung small cell carcinoma sample STK31 Q9BXU1 VAR_041161 p.Thr1000Met Polymorphism rs55794023 - STK31 Q9BXU1 VAR_041162 p.Thr1010Ser Polymorphism rs56391043 - STK31 Q9BXU1 VAR_051675 p.Arg385Cys Polymorphism rs35995607 - STK32A Q8WU08 VAR_041163 p.Lys58Met Polymorphism rs35852718 - STK32A Q8WU08 VAR_041164 p.Ser89Phe Unclassified - A metastatic melanoma sample STK32A Q8WU08 VAR_041165 p.Met316Ile Unclassified - A lung neuroendocrine carcinoma sample STK32B Q9NY57 VAR_025899 p.Arg198Gly Polymorphism rs3733182 - STK32B Q9NY57 VAR_041166 p.Gly35Glu Unclassified - A metastatic melanoma sample STK32B Q9NY57 VAR_041167 p.Arg244His Polymorphism rs35207488 - STK32B Q9NY57 VAR_041168 p.Asp310Val Polymorphism rs56259884 - STK32B Q9NY57 VAR_041169 p.Lys342Thr Polymorphism rs55961955 - STK32C Q86UX6 VAR_025900 p.Thr334Ala Polymorphism rs17854384 - STK32C Q86UX6 VAR_035637 p.Arg376His Unclassified - A colorectal cancer sample STK32C Q86UX6 VAR_041170 p.Ala454Thr Polymorphism rs56109103 - STK32C Q86UX6 VAR_041171 p.Glu467Lys Polymorphism rs55812591 - STK33 Q9BYT3 VAR_041172 p.Glu98Asp Polymorphism rs34525052 - STK33 Q9BYT3 VAR_041173 p.Leu160Val Unclassified - A lung large cell carcinoma sample STK33 Q9BYT3 VAR_041174 p.Asp436Glu Polymorphism rs3751096 - STK33 Q9BYT3 VAR_041175 p.Ala437Thr Polymorphism rs3751095 - STK33 Q9BYT3 VAR_041176 p.Ala458Glu Polymorphism rs35296353 - STK33 Q9BYT3 VAR_061746 p.Lys60Glu Polymorphism rs60786172 - STK36 Q9NRP7 VAR_025727 p.Lys463Asn Polymorphism rs17856747 - STK36 Q9NRP7 VAR_025728 p.Ser767Thr Polymorphism rs17856748 - STK36 Q9NRP7 VAR_025729 p.Gly1003Asp Polymorphism rs1863704 - STK36 Q9NRP7 VAR_041177 p.Ile90Met Polymorphism rs55706732 - STK36 Q9NRP7 VAR_041178 p.Arg240Trp Polymorphism rs35038757 - STK36 Q9NRP7 VAR_041179 p.Lys295Arg Polymorphism rs1863703 - STK36 Q9NRP7 VAR_041180 p.Asp329Asn Polymorphism rs34027859 - STK36 Q9NRP7 VAR_041181 p.Leu462Val Polymorphism rs45586733 - STK36 Q9NRP7 VAR_041182 p.Phe476Ser Polymorphism rs34128793 - STK36 Q9NRP7 VAR_041183 p.Arg477Trp Polymorphism rs16859180 - STK36 Q9NRP7 VAR_041184 p.Arg583Gln Polymorphism rs1344642 - STK36 Q9NRP7 VAR_041185 p.Ser660Cys Unclassified - A breast pleomorphic lobular carcinoma sample STK36 Q9NRP7 VAR_041186 p.Leu672Pro Polymorphism rs35448374 - STK36 Q9NRP7 VAR_041187 p.Ser767Tyr Unclassified - An ovarian papillary serous adenocarcinoma sample STK36 Q9NRP7 VAR_041188 p.Thr816Ala Polymorphism rs34271431 - STK36 Q9NRP7 VAR_041189 p.Arg839Gln Polymorphism rs13023540 - STK36 Q9NRP7 VAR_041190 p.Leu840Val Polymorphism rs36099639 - STK36 Q9NRP7 VAR_041191 p.Tyr1111Cys Polymorphism rs56278660 - STK36 Q9NRP7 VAR_041192 p.Arg1112Gln Polymorphism rs12993599 - STK36 Q9NRP7 VAR_041193 p.Gln1138Lys Unclassified - An ovarian serous carcinoma sample STK36 Q9NRP7 VAR_041194 p.Pro1185Ser Unclassified - - STK36 Q9NRP7 VAR_041195 p.His1313Pro Polymorphism - - STK36 Q9NRP7 VAR_057112 p.Gln638Pro Polymorphism rs6709303 - STK36 Q9NRP7 VAR_061747 p.Val1004Ile Polymorphism rs55633575 - STK38L Q9Y2H1 VAR_041199 p.Gly99Ala Unclassified - - STK38 Q15208 VAR_041196 p.Glu18Lys Unclassified - A metastatic melanoma sample STK38 Q15208 VAR_041197 p.Asp145Asn Polymorphism rs56005153 - STK38 Q15208 VAR_041198 p.Lys267Arg Polymorphism rs56105564 - STK3 Q13188 VAR_041122 p.Val60Leu Unclassified - An ovarian clear cell carcinoma sample STK3 Q13188 VAR_051670 p.Phe418Cys Polymorphism rs36047674 - STK40 Q8N2I9 VAR_041200 p.Ala10Val Polymorphism rs56314546 - STK40 Q8N2I9 VAR_041201 p.Met133Thr Unclassified - A colorectal adenocarcinoma sample STK40 Q8N2I9 VAR_041202 p.Arg211Gln Unclassified - A colorectal adenocarcinoma sample STK40 Q8N2I9 VAR_041203 p.Ala395Thr Polymorphism rs3795498 - STK4 Q13043 VAR_027040 p.Val312Met Polymorphism rs17420378 - STK4 Q13043 VAR_041123 p.His162Asn Polymorphism rs55850759 - STK4 Q13043 VAR_041124 p.Arg310Gln Polymorphism rs35447878 - STK4 Q13043 VAR_041125 p.Ile355Thr Polymorphism rs35944046 - STK4 Q13043 VAR_041126 p.Pro416Leu Polymorphism rs33963346 - STOML2 Q9UJZ1 VAR_026830 p.Leu129Pro Polymorphism rs17856326 - STON1 Q9Y6Q2 VAR_020183 p.Arg127Thr Polymorphism rs940389 - STON1 Q9Y6Q2 VAR_020184 p.Gln544His Polymorphism rs3828341 - STON1 Q9Y6Q2 VAR_020185 p.Gln607His Polymorphism rs3792234 - STON1 Q9Y6Q2 VAR_052156 p.Lys8Asn Polymorphism rs17039250 - STON2 Q8WXE9 VAR_020182 p.Ser307Pro Polymorphism rs3813535 - STON2 Q8WXE9 VAR_021912 p.Ser851Ala Polymorphism rs2241621 - STON2 Q8WXE9 VAR_046643 p.Arg646His Polymorphism rs34323725 - STON2 Q8WXE9 VAR_046644 p.Thr694Ala Polymorphism rs35689202 - STOX1 Q6ZVD7 VAR_023784 p.Arg18Pro Disease - Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] STOX1 Q6ZVD7 VAR_023785 p.Tyr153His Disease rs1341667 Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] STOX1 Q6ZVD7 VAR_023786 p.Glu608Asp Polymorphism rs10509305 - STOX1 Q6ZVD7 VAR_023787 p.Asn825Ile Disease rs41278532 Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] STOX1 Q6ZVD7 VAR_051388 p.Ala863Thr Polymorphism rs7904300 - STPG1 Q5TH74 VAR_035614 p.Ser254Phe Unclassified - A breast cancer sample STPG2 Q8N412 VAR_037359 p.Cys111Trp Polymorphism rs13131259 - STPG2 Q8N412 VAR_037360 p.Phe112Val Polymorphism rs13131258 - STPG2 Q8N412 VAR_037361 p.Tyr125His Polymorphism rs17558193 - STPG2 Q8N412 VAR_037362 p.Ile178Val Polymorphism rs2903150 - STPG2 Q8N412 VAR_037363 p.Lys279Arg Polymorphism rs7654193 - STPG2 Q8N412 VAR_037364 p.Val420Ala Polymorphism rs17026871 - STRA6 Q9BX79 VAR_037168 p.Pro90Leu Disease - Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_037169 p.Pro293Leu Disease - Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_037170 p.Thr321Pro Disease - Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_037171 p.Gly339Ser Polymorphism rs17852249 - STRA6 Q9BX79 VAR_037172 p.Leu517Phe Polymorphism rs11545567 - STRA6 Q9BX79 VAR_037173 p.Met527Ile Polymorphism rs736118 - STRA6 Q9BX79 VAR_037174 p.Thr644Met Disease - Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_037175 p.Arg655Cys Disease - Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186] STRA6 Q9BX79 VAR_060203 p.Gly217Glu Unclassified - - STRA6 Q9BX79 VAR_060204 p.Gln438Arg Unclassified - - STRA6 Q9BX79 VAR_060205 p.Arg638Pro Unclassified - - STRADA Q7RTN6 VAR_041377 p.Arg13Trp Polymorphism rs35808156 - STRADA Q7RTN6 VAR_041378 p.Ser60Ile Polymorphism rs56271007 - STRADA Q7RTN6 VAR_041379 p.Pro64Ser Polymorphism rs55695051 - STRADB Q9C0K7 VAR_041335 p.Gly155Glu Unclassified - A metastatic melanoma sample STRADB Q9C0K7 VAR_041336 p.Pro386Leu Polymorphism rs35636836 - STRBP Q96SI9 VAR_035662 p.Gly280Arg Unclassified - A breast cancer sample STRC Q7RTU9 VAR_051389 p.Leu1640Phe Polymorphism rs2920791 - STRIP2 Q9ULQ0 VAR_049021 p.Arg383Gln Polymorphism rs2242030 - STRN3 Q13033 VAR_054337 p.Asn471Ser Polymorphism rs2273171 - STRN4 Q9NRL3 VAR_053419 p.Val568Ile Polymorphism rs10409124 - STS P08842 VAR_007240 p.Ser341Leu Disease - Ichthyosis X-linked (IXL) [MIM:308100] STS P08842 VAR_007241 p.Trp372Arg Disease - Ichthyosis X-linked (IXL) [MIM:308100] STS P08842 VAR_007242 p.Cys446Tyr Disease - Ichthyosis X-linked (IXL) [MIM:308100] STS P08842 VAR_014020 p.Trp372Ser Disease - Ichthyosis X-linked (IXL) [MIM:308100] STS P08842 VAR_014021 p.Gly380Arg Disease - Ichthyosis X-linked (IXL) [MIM:308100] STS P08842 VAR_014022 p.His444Arg Disease - Ichthyosis X-linked (IXL) [MIM:308100] STS P08842 VAR_014023 p.Gln560Pro Disease - Ichthyosis X-linked (IXL) [MIM:308100] STX11 O75558 VAR_011995 p.Glu31Gln Polymorphism rs1802414 - STX11 O75558 VAR_011996 p.Leu204His Polymorphism rs1133248 - STX11 O75558 VAR_029769 p.Arg49Gln Polymorphism rs17073498 - STX11 O75558 VAR_029770 p.Thr277Ala Polymorphism rs9496891 - STX12 Q86Y82 VAR_035643 p.Pro88Arg Unclassified - A breast cancer sample STX18 Q9P2W9 VAR_052250 p.Asp32Tyr Polymorphism rs13134070 - STX18 Q9P2W9 VAR_052251 p.Ser51Gly Polymorphism rs36109375 - STX18 Q9P2W9 VAR_052252 p.Ser228Thr Polymorphism rs33952588 - STX2 P32856 VAR_014850 p.Ser42Thr Polymorphism rs6486602 - STX2 P32856 VAR_057259 p.Lys54Arg Polymorphism rs7301926 - STX3 Q13277 VAR_028189 p.Glu83Asp Polymorphism rs12282741 - STX3 Q13277 VAR_052246 p.Gly276Ser Polymorphism rs34563654 - STX3 Q13277 VAR_052247 p.Ser285Pro Polymorphism rs34753750 - STX5 Q13190 VAR_035642 p.Gln79His Unclassified - A breast cancer sample STX5 Q13190 VAR_052248 p.Pro51Leu Polymorphism rs3802945 - STX5 Q13190 VAR_052249 p.Gln72His Polymorphism rs11231241 - STXBP1 P61764 VAR_046205 p.Val84Asp Disease - Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164] STXBP1 P61764 VAR_046206 p.Cys180Tyr Disease - Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164] STXBP1 P61764 VAR_046207 p.Met443Arg Disease - Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164] STXBP1 P61764 VAR_046208 p.Gly544Asp Disease - Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164] STXBP2 Q15833 VAR_014934 p.Ile526Val Polymorphism rs6791 - STXBP2 Q15833 VAR_063814 p.Leu209Pro Disease - Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] STXBP2 Q15833 VAR_063816 p.Arg292His Disease - Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] STXBP2 Q15833 VAR_063817 p.Arg405Gln Disease - Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] STXBP2 Q15833 VAR_063818 p.Arg405Trp Disease - Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] STXBP2 Q15833 VAR_063819 p.Pro477Leu Disease - Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] STXBP3 O00186 VAR_017570 p.Glu433Gly Polymorphism rs1044136 - STXBP3 O00186 VAR_017571 p.Cys546Gly Polymorphism rs1044137 - STXBP3 O00186 VAR_052470 p.Arg295Gln Polymorphism rs2275344 - STXBP4 Q6ZWJ1 VAR_056999 p.Cys120Arg Polymorphism rs34870302 - STXBP4 Q6ZWJ1 VAR_063103 p.Gly92Arg Polymorphism rs1156287 - STXBP5L Q9Y2K9 VAR_050076 p.Thr568Ser Polymorphism rs17249244 - STXBP5L Q9Y2K9 VAR_050077 p.Val855Ile Polymorphism rs17740066 - STXBP5 Q5T5C0 VAR_035235 p.Asn436Ser Polymorphism rs1039084 - STYK1 Q6J9G0 VAR_022245 p.Ser204Gly Polymorphism rs3759259 - STYK1 Q6J9G0 VAR_030766 p.Arg71Gly Polymorphism rs6650202 - STYK1 Q6J9G0 VAR_041841 p.Arg210Trp Polymorphism rs34981955 - STYK1 Q6J9G0 VAR_041842 p.Leu237Ser Polymorphism rs55877878 - STYK1 Q6J9G0 VAR_041843 p.Arg379His Polymorphism rs34638573 - STYK1 Q6J9G0 VAR_041844 p.Val395Ile Unclassified - A glioblastoma multiforme sample STYK1 Q6J9G0 VAR_041845 p.Val400Leu Polymorphism rs55766125 - SUB1 P53999 VAR_032870 p.Ser11Gly Polymorphism rs17850527 - SUCLA2 Q9P2R7 VAR_013459 p.Ser199Thr Polymorphism rs7320366 - SUCLA2 Q9P2R7 VAR_046214 p.Val13Met Polymorphism rs35201084 - SUCLA2 Q9P2R7 VAR_046215 p.Gly118Arg Disease - Mitochondrial DNA depletion syndrome type 5 (MTDPS5) [MIM:612073] SUCLA2 Q9P2R7 VAR_046216 p.Arg284Cys Disease - Mitochondrial DNA depletion syndrome type 5 (MTDPS5) [MIM:612073] SUCLG1 P53597 VAR_065120 p.Met14Leu Disease - Mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400] SUCLG1 P53597 VAR_065121 p.Pro170Arg Disease - Mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400] SUCLG1 P53597 VAR_065157 p.Gly85Ala Disease - Mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400] SUCLG2 Q96I99 VAR_052499 p.Lys347Arg Polymorphism rs9843840 - SUCLG2 Q96I99 VAR_052500 p.Arg381Trp Polymorphism rs7623258 - SUFU Q9UMX1 VAR_021566 p.Pro15Leu Polymorphism rs28942088 - SUFU Q9UMX1 VAR_021567 p.Ala340Ser Polymorphism rs34135067 - SUGP1 Q8IWZ8 VAR_051339 p.Arg290His Polymorphism rs17751061 - SUGP1 Q8IWZ8 VAR_051340 p.Gln568His Polymorphism rs1044980 - SUGP2 Q8IX01 VAR_023711 p.Gly206Ser Polymorphism rs4808907 - SUGP2 Q8IX01 VAR_051341 p.Met552Thr Polymorphism rs10404860 - SUGP2 Q8IX01 VAR_051342 p.Gln649Arg Polymorphism rs10414535 - SUGP2 Q8IX01 VAR_051343 p.Gln722Arg Polymorphism rs34540303 - SUGP2 Q8IX01 VAR_051344 p.Arg881Gln Polymorphism rs35646935 - SULF2 Q8IWU5 VAR_036494 p.Tyr531His Unclassified - A breast cancer sample SULF2 Q8IWU5 VAR_036495 p.Asp573Asn Unclassified - A breast cancer sample SULF2 Q8IWU5 VAR_052518 p.Arg674His Polymorphism rs10048853 - SULF2 Q8IWU5 VAR_061885 p.Ala76Thr Polymorphism rs56218501 - SULT1A1 P50225 VAR_007425 p.Arg213His Polymorphism rs9282861 - SULT1A1 P50225 VAR_009302 p.Arg37Gln Polymorphism - - SULT1A1 P50225 VAR_009303 p.Val223Met Polymorphism rs1801030 - SULT1A1 P50225 VAR_014889 p.Asn235Thr Polymorphism rs35728980 - SULT1A1 P50225 VAR_028721 p.Glu151Asp Polymorphism rs1042014 - SULT1A1 P50225 VAR_057339 p.Glu151Gln Polymorphism rs1042011 - SULT1A1 P50225 VAR_061886 p.Glu282Lys Polymorphism rs36043491 - SULT1A2 P50226 VAR_007426 p.Ile7Thr Polymorphism - - SULT1A2 P50226 VAR_007427 p.Asn235Thr Polymorphism rs1059491 - SULT1A2 P50226 VAR_057340 p.Pro19Leu Polymorphism rs10797300 - SULT1A2 P50226 VAR_057341 p.Tyr62Phe Polymorphism rs4987024 - SULT1A2 P50226 VAR_057342 p.Asn239Ser Polymorphism rs45472392 - SULT1A2 P50226 VAR_061887 p.Lys282Glu Polymorphism rs27742 - SULT1C2 O00338 VAR_021986 p.Tyr128His Polymorphism rs17036091 - SULT1C2 O00338 VAR_021987 p.Ser255Ala Polymorphism rs17036104 - SULT1C2 O00338 VAR_061888 p.Arg282Thr Polymorphism rs45515691 - SULT1C3 Q6IMI6 VAR_033732 p.Tyr148Cys Polymorphism rs17035911 - SULT1C3 Q6IMI6 VAR_033733 p.Gly179Arg Polymorphism rs2219078 - SULT1C3 Q6IMI6 VAR_033734 p.Met194Thr Polymorphism rs6722745 - SULT1C3 Q6IMI6 VAR_052519 p.Ala88Thr Polymorphism rs11903659 - SULT1C4 O75897 VAR_025404 p.Asp5Glu Polymorphism rs1402467 - SULT1C4 O75897 VAR_061889 p.Ile68Met Polymorphism rs41322445 - SULT1E1 P49888 VAR_018907 p.Asp22Tyr Polymorphism rs11569705 - SULT2A1 Q06520 VAR_052520 p.Ala63Pro Polymorphism rs11569681 - SULT2A1 Q06520 VAR_052521 p.Ala261Thr Polymorphism rs11569679 - SULT2B1 O00204 VAR_020887 p.Leu51Ser Polymorphism rs16982149 - SULT2B1 O00204 VAR_020888 p.Pro345Leu Polymorphism rs17842463 - SULT2B1 O00204 VAR_021988 p.Val240Ile Polymorphism rs2302947 - SULT6B1 Q6IMI4 VAR_052522 p.Ala61Thr Polymorphism rs45552433 - SULT6B1 Q6IMI4 VAR_052523 p.Val75Asp Polymorphism rs45626240 - SULT6B1 Q6IMI4 VAR_052524 p.Lys88Glu Polymorphism rs45493492 - SULT6B1 Q6IMI4 VAR_052525 p.Glu167Val Polymorphism rs7425881 - SULT6B1 Q6IMI4 VAR_052526 p.Arg181Ser Polymorphism rs45439591 - SULT6B1 Q6IMI4 VAR_052527 p.Lys296Arg Polymorphism rs45495394 - SULT6B1 Q6IMI4 VAR_059853 p.Leu150Phe Polymorphism rs10205833 - SUMF1 Q8NBK3 VAR_016052 p.Ser63Asn Polymorphism rs2819590 - SUMF1 Q8NBK3 VAR_016053 p.Ser155Pro Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016054 p.Cys218Tyr Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016055 p.Ala279Val Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016056 p.Cys336Arg Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016057 p.Arg345Cys Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016058 p.Ala348Pro Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016059 p.Arg349Gln Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_016060 p.Arg349Trp Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019050 p.Leu20Phe Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019051 p.Ala177Pro Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019052 p.Arg224Trp Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019053 p.Asn259Ile Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_019054 p.Pro266Leu Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF1 Q8NBK3 VAR_042602 p.Trp179Ser Disease - Multiple sulfatase deficiency (MSD) [MIM:272200] SUMF2 Q8NBJ7 VAR_046951 p.Asp51Glu Polymorphism rs4245575 - SUMO2 P61956 VAR_047508 p.Asp16Asn Polymorphism rs17850328 - SUMO3 P55854 VAR_052692 p.Pro38Ser Polymorphism rs1051311 - SUMO4 Q6EEV6 VAR_023740 p.Met55Val Polymorphism rs237025 - SUN1 O94901 VAR_059828 p.His118Tyr Polymorphism rs6461378 - SUN2 Q9UH99 VAR_024624 p.Gly671Ser Polymorphism rs2072797 - SUN2 Q9UH99 VAR_052282 p.Thr33Ala Polymorphism rs2072799 - SUN2 Q9UH99 VAR_052283 p.Leu89Arg Polymorphism rs35496634 - SUN2 Q9UH99 VAR_052284 p.Arg348Cys Polymorphism rs138708 - SUN3 Q8TAQ9 VAR_037458 p.Ile127Val Polymorphism rs17852360 - SUN3 Q8TAQ9 VAR_037459 p.Leu177Val Polymorphism rs7797657 - SUN5 Q8TC36 VAR_015147 p.Glu16Lys Polymorphism rs3746387 - SUN5 Q8TC36 VAR_026677 p.Glu39Asp Polymorphism rs1133358 - SUN5 Q8TC36 VAR_026678 p.Ala174Thr Polymorphism rs17123951 - SUN5 Q8TC36 VAR_052285 p.Ile120Val Polymorphism rs35216976 - SUOX P51687 VAR_002200 p.Arg217Gln Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_002201 p.Ala265Asp Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_002202 p.Ser427Tyr Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_002203 p.Gly530Asp Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_015724 p.Ile258Leu Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_015725 p.Arg268Gln Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_015726 p.Gly362Ser Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_015727 p.Arg366His Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_015728 p.Lys379Arg Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_015729 p.Gln396Arg Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUOX P51687 VAR_015730 p.Trp450Arg Disease - Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] SUPT20H Q8NEM7 VAR_055798 p.Met154Val Polymorphism rs7324275 - SUPT20H Q8NEM7 VAR_055799 p.Thr773Met Polymorphism rs9469 - SUPT3H O75486 VAR_057000 p.Asp324Ala Polymorphism rs16872923 - SUPV3L1 Q8IYB8 VAR_037076 p.Pro30Thr Polymorphism rs34596380 - SUPV3L1 Q8IYB8 VAR_061214 p.Ser2Phe Polymorphism rs33998366 - SURF1 Q15526 VAR_007450 p.Gly124Glu Disease rs28933402 Leigh syndrome (LS) [MIM:256000] SURF1 Q15526 VAR_007451 p.Asp202His Polymorphism rs72619327 - SURF1 Q15526 VAR_007452 p.Ile246Thr Disease - Leigh syndrome (LS) [MIM:256000] SURF1 Q15526 VAR_015258 p.Gly124Arg Disease - Leigh syndrome (LS) [MIM:256000] SURF1 Q15526 VAR_015259 p.Tyr274Asp Disease - Leigh syndrome (LS) [MIM:256000] SURF1 Q15526 VAR_036340 p.Asn89Lys Unclassified - A breast cancer sample SURF2 Q15527 VAR_014785 p.Ser213Gly Polymorphism rs12763 - SURF2 Q15527 VAR_057001 p.Arg221Gln Polymorphism rs7863933 - SURF6 O75683 VAR_014532 p.Arg163Trp Polymorphism rs886090 - SURF6 O75683 VAR_014533 p.Thr175Met Polymorphism rs886089 - SURF6 O75683 VAR_014534 p.Thr311Met Polymorphism rs1800867 - SURF6 O75683 VAR_052199 p.Arg193Gln Polymorphism rs34657219 - SURF6 O75683 VAR_052200 p.Asn201His Polymorphism rs35316446 - SUSD1 Q6UWL2 VAR_027743 p.His524Gln Polymorphism rs17855713 - SUSD1 Q6UWL2 VAR_051390 p.Gln201Glu Polymorphism rs17829458 - SUSD2 Q9UGT4 VAR_027416 p.Arg59Gln Polymorphism rs17842275 - SUSD2 Q9UGT4 VAR_027417 p.Ser110Thr Polymorphism rs9680526 - SUSD2 Q9UGT4 VAR_027418 p.Asn466Ser Polymorphism rs8141797 - SUSD3 Q96L08 VAR_027744 p.Lys136Glu Polymorphism rs1131773 - SUSD3 Q96L08 VAR_035663 p.Ser140Thr Unclassified - A breast cancer sample SUSD5 O60279 VAR_030217 p.Leu52Phe Polymorphism rs9637517 - SUSD5 O60279 VAR_030218 p.Arg228Lys Polymorphism rs9872477 - SUSD5 O60279 VAR_051391 p.Phe40Leu Polymorphism rs9637517 - SUSD5 O60279 VAR_051392 p.Arg216Lys Polymorphism rs9872477 - SUSD5 O60279 VAR_051393 p.Glu378Asp Polymorphism rs6810039 - SUV39H2 Q9H5I1 VAR_036344 p.Asp383His Unclassified - A breast cancer sample SUV420H1 Q4FZB7 VAR_047765 p.Ile9Asn Polymorphism rs2512606 - SUZ12 Q15022 VAR_028100 p.Asn216Ile Polymorphism rs17339444 - SV2C Q496J9 VAR_050303 p.Thr482Ser Polymorphism rs2270927 - SV2C Q496J9 VAR_050304 p.Asp543Asn Polymorphism rs31244 - SVEP1 Q4LDE5 VAR_039153 p.Gly332Ala Polymorphism rs3818764 - SVEP1 Q4LDE5 VAR_039154 p.Gly428Ser Polymorphism rs10980419 - SVEP1 Q4LDE5 VAR_039155 p.Val507Ile Polymorphism rs872665 - SVEP1 Q4LDE5 VAR_039156 p.Gln581His Polymorphism rs10817033 - SVEP1 Q4LDE5 VAR_039157 p.Ile637Val Polymorphism rs13286541 - SVEP1 Q4LDE5 VAR_039158 p.Lys899Arg Polymorphism rs10817025 - SVEP1 Q4LDE5 VAR_039159 p.Ile1157Val Polymorphism rs7038903 - SVEP1 Q4LDE5 VAR_039160 p.Leu1330Met Polymorphism rs10817021 - SVEP1 Q4LDE5 VAR_039161 p.Lys1416Gln Polymorphism rs1889323 - SVEP1 Q4LDE5 VAR_039162 p.Met1444Leu Polymorphism rs7863519 - SVEP1 Q4LDE5 VAR_039163 p.Leu1648Val Polymorphism rs7852962 - SVEP1 Q4LDE5 VAR_039164 p.Glu1810Ala Polymorphism rs2986671 - SVEP1 Q4LDE5 VAR_039165 p.Arg1953Lys Polymorphism rs17204832 - SVEP1 Q4LDE5 VAR_039166 p.Thr2607Ala Polymorphism rs3802433 - SVEP1 Q4LDE5 VAR_039167 p.Ala2750Val Polymorphism rs7030192 - SVEP1 Q4LDE5 VAR_039168 p.Ile2922Val Polymorphism rs16914996 - SVEP1 Q4LDE5 VAR_039169 p.Phe3161Ile Polymorphism rs3739451 - SVEP1 Q4LDE5 VAR_039170 p.Pro3230Thr Polymorphism rs16914992 - SVEP1 Q4LDE5 VAR_039171 p.Thr3559Met Polymorphism rs17204533 - SVIL O95425 VAR_020791 p.Val189Ala Polymorphism rs10160013 - SVIL O95425 VAR_020792 p.Pro1235Ala Polymorphism rs2368406 - SVIL O95425 VAR_024691 p.Ser1688Pro Polymorphism rs11007612 - SVIL O95425 VAR_057467 p.Val1041Leu Polymorphism rs7070135 - SVIL O95425 VAR_057468 p.Ile2005Val Polymorphism rs7921306 - SVIL O95425 VAR_057469 p.Ala2041Val Polymorphism rs17694739 - SVIL O95425 VAR_058308 p.Val422Ile Polymorphism rs1247696 - SVOPL Q8N434 VAR_033188 p.Phe385Cys Polymorphism rs2305816 - SWAP70 Q9UH65 VAR_026717 p.Gln505Glu Polymorphism rs415895 - SWAP70 Q9UH65 VAR_059548 p.Arg230Gly Polymorphism rs397686 - SWSAP1 Q6NVH7 VAR_033151 p.Asp171Gly Polymorphism rs317926 - SWT1 Q5T5J6 VAR_027652 p.Ile148Val Polymorphism rs10489579 - SWT1 Q5T5J6 VAR_027653 p.His536Arg Polymorphism rs6698109 - SWT1 Q5T5J6 VAR_027654 p.Leu638Phe Polymorphism rs2295950 - SWT1 Q5T5J6 VAR_027655 p.Asn821Asp Polymorphism rs12041704 - SYCE1 Q8N0S2 VAR_029385 p.Glu132Asp Polymorphism rs8181357 - SYCE1 Q8N0S2 VAR_029386 p.Lys183Arg Polymorphism rs3747881 - SYCE1 Q8N0S2 VAR_029387 p.Pro317Ala Polymorphism rs11101822 - SYCE3 A1L190 VAR_060126 p.Leu88Pro Polymorphism rs6009989 - SYCN Q0VAF6 VAR_033284 p.Leu111Met Polymorphism rs2082416 - SYCP1 Q15431 VAR_046993 p.Glu78Asp Polymorphism rs12563933 - SYCP1 Q15431 VAR_046994 p.Glu805Asp Polymorphism rs1053812 - SYCP2L Q5T4T6 VAR_043169 p.Val94Ile Polymorphism rs6456746 - SYCP2L Q5T4T6 VAR_043170 p.Asn647Asp Polymorphism rs3798751 - SYCP2L Q5T4T6 VAR_043171 p.Pro672Ser Polymorphism rs1225746 - SYCP2 Q9BX26 VAR_014115 p.Pro523Leu Polymorphism rs1359836 - SYCP2 Q9BX26 VAR_054059 p.Thr353Lys Polymorphism rs13039338 - SYCP2 Q9BX26 VAR_054060 p.Thr751Ile Polymorphism rs6071006 - SYCP2 Q9BX26 VAR_054061 p.Val1155Ala Polymorphism rs6128714 - SYDE1 Q6ZW31 VAR_062661 p.Arg408Gln Unclassified - A pancreatic ductal adenocarcinoma sample SYDE2 Q5VT97 VAR_037419 p.Ile484Met Polymorphism rs12090608 - SYDE2 Q5VT97 VAR_037420 p.Val569Ile Polymorphism rs817443 - SYDE2 Q5VT97 VAR_037421 p.Val1157Ile Polymorphism rs709786 - SYF2 O95926 VAR_062162 p.Ala89Val Polymorphism rs35324907 - SYK P43405 VAR_033838 p.Arg45His Polymorphism rs16906862 - SYN2 Q92777 VAR_059825 p.Thr506Ala Polymorphism rs794999 - SYNDIG1 Q9H7V2 VAR_053733 p.Gly54Arg Polymorphism rs6083553 - SYNE1 Q8NF91 VAR_015548 p.Gly8323Ala Polymorphism rs2252755 - SYNE1 Q8NF91 VAR_036250 p.Val3671Met Unclassified - A colorectal cancer sample SYNE1 Q8NF91 VAR_036251 p.Glu4210Asp Unclassified - A colorectal cancer sample SYNE1 Q8NF91 VAR_036252 p.Arg4223His Unclassified - A colorectal cancer sample SYNE1 Q8NF91 VAR_036253 p.Leu5507Arg Unclassified - A colorectal cancer sample SYNE1 Q8NF91 VAR_036254 p.Arg8468His Unclassified - A colorectal cancer sample SYNE1 Q8NF91 VAR_056211 p.Gln655Arg Polymorphism rs9397509 - SYNE1 Q8NF91 VAR_056212 p.Leu885Val Polymorphism rs17082709 - SYNE1 Q8NF91 VAR_056213 p.Val1035Ala Polymorphism rs214976 - SYNE1 Q8NF91 VAR_056214 p.Ser2030Gly Polymorphism rs35763277 - SYNE1 Q8NF91 VAR_056215 p.Ala2795Val Polymorphism rs214950 - SYNE1 Q8NF91 VAR_056216 p.Lys3874Thr Polymorphism rs13210127 - SYNE1 Q8NF91 VAR_056217 p.Ser3954Thr Polymorphism rs7775119 - SYNE1 Q8NF91 VAR_056218 p.Glu4060Asp Polymorphism rs4645434 - SYNE1 Q8NF91 VAR_056219 p.Lys4121Asn Polymorphism rs28385621 - SYNE1 Q8NF91 VAR_056220 p.Lys4121Arg Polymorphism rs9479297 - SYNE1 Q8NF91 VAR_056221 p.Glu4203Lys Polymorphism rs2130262 - SYNE1 Q8NF91 VAR_056222 p.Val4546Ile Polymorphism rs4870093 - SYNE1 Q8NF91 VAR_056223 p.Ser4596Thr Polymorphism rs6911096 - SYNE1 Q8NF91 VAR_056224 p.Leu4944Met Polymorphism rs2306916 - SYNE1 Q8NF91 VAR_056225 p.Leu5015Met Polymorphism rs2306916 - SYNE1 Q8NF91 VAR_056226 p.Met5377Leu Polymorphism rs35987150 - SYNE1 Q8NF91 VAR_056227 p.Thr5426Met Polymorphism rs2306914 - SYNE1 Q8NF91 VAR_056228 p.Met6566Ile Polymorphism rs35654757 - SYNE1 Q8NF91 VAR_056229 p.Thr6664Ile Polymorphism rs35079654 - SYNE1 Q8NF91 VAR_056230 p.Gln6951His Polymorphism rs3945783 - SYNE1 Q8NF91 VAR_056231 p.Phe7302Val Polymorphism rs2147377 - SYNE1 Q8NF91 VAR_056232 p.Ser7506Gly Polymorphism rs35763277 - SYNE1 Q8NF91 VAR_056233 p.Asn8161His Polymorphism rs36215251 - SYNE1 Q8NF91 VAR_056234 p.Ala8168Ser Polymorphism rs17082236 - SYNE1 Q8NF91 VAR_056235 p.Thr8687Ile Polymorphism rs35591210 - SYNE1 Q8NF91 VAR_056236 p.Leu8741Met Polymorphism rs2295190 - SYNE1 Q8NF91 VAR_062974 p.Arg8095His Disease - Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998] SYNE1 Q8NF91 VAR_062975 p.Val8387Leu Disease - Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998] SYNE1 Q8NF91 VAR_062976 p.Glu8461Lys Disease - Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998] SYNE2 Q8WXH0 VAR_027947 p.Pro8Ser Polymorphism rs2275017 - SYNE2 Q8WXH0 VAR_027948 p.Ile574Thr Polymorphism rs9944035 - SYNE2 Q8WXH0 VAR_027949 p.Asn2358Ser Polymorphism rs4027404 - SYNE2 Q8WXH0 VAR_027950 p.Ala2394Thr Polymorphism rs4027405 - SYNE2 Q8WXH0 VAR_027951 p.Gly2801Ser Polymorphism rs1890908 - SYNE2 Q8WXH0 VAR_036255 p.Val5940Ile Unclassified - A breast cancer sample SYNE2 Q8WXH0 VAR_036256 p.Tyr6200Cys Unclassified - A breast cancer sample SYNE2 Q8WXH0 VAR_050238 p.Ser432Arg Polymorphism rs35554503 - SYNE2 Q8WXH0 VAR_050239 p.Arg1393Trp Polymorphism rs17751301 - SYNE2 Q8WXH0 VAR_050240 p.Met1969Thr Polymorphism rs4902264 - SYNE2 Q8WXH0 VAR_050241 p.Ala2284Val Polymorphism rs4027402 - SYNE2 Q8WXH0 VAR_050242 p.Ala2347Glu Polymorphism rs34625768 - SYNE2 Q8WXH0 VAR_050243 p.Ser2359Gly Polymorphism rs7157465 - SYNE2 Q8WXH0 VAR_050244 p.Ser2359Asn Polymorphism rs4027404 - SYNE2 Q8WXH0 VAR_050245 p.Ala2395Thr Polymorphism rs4027405 - SYNE2 Q8WXH0 VAR_050246 p.Val2490Gly Polymorphism rs34393543 - SYNE2 Q8WXH0 VAR_050247 p.Ile2564Val Polymorphism rs11628107 - SYNE2 Q8WXH0 VAR_050248 p.Ser2802Gly Polymorphism rs1890908 - SYNE2 Q8WXH0 VAR_050249 p.Ile2942Val Polymorphism rs3829767 - SYNE2 Q8WXH0 VAR_050250 p.Glu3026Asp Polymorphism rs34843668 - SYNE2 Q8WXH0 VAR_050251 p.Asn3130Ser Polymorphism rs11847087 - SYNE2 Q8WXH0 VAR_050252 p.Asp3253His Polymorphism rs8010911 - SYNE2 Q8WXH0 VAR_050253 p.His3309Arg Polymorphism rs8010699 - SYNE2 Q8WXH0 VAR_050254 p.Lys3523Gln Polymorphism rs35203186 - SYNE2 Q8WXH0 VAR_050255 p.Asn3982His Polymorphism rs10137972 - SYNE2 Q8WXH0 VAR_050256 p.Arg4041His Polymorphism rs17101661 - SYNE2 Q8WXH0 VAR_050257 p.Pro4912Ala Polymorphism rs17766354 - SYNE2 Q8WXH0 VAR_050258 p.Glu4913Lys Polymorphism rs12881815 - SYNE2 Q8WXH0 VAR_050259 p.His5086Tyr Polymorphism rs2039475 - SYNE2 Q8WXH0 VAR_050260 p.Leu5186Met Polymorphism rs10151658 - SYNE2 Q8WXH0 VAR_050261 p.Asp5547Asn Polymorphism rs17179194 - SYNE2 Q8WXH0 VAR_050262 p.Ala6155Val Polymorphism rs2275014 - SYNE2 Q8WXH0 VAR_050263 p.Lys6681Glu Polymorphism rs35315070 - SYNE2 Q8WXH0 VAR_050264 p.Arg6697Trp Polymorphism rs35700578 - SYNE2 Q8WXH0 VAR_062977 p.Thr6211Met Disease - Emery-Dreifuss muscular dystrophy type 5 (EDMD5) [MIM:612999] SYNE3 Q6ZMZ3 VAR_031231 p.Thr668Met Polymorphism rs9671369 - SYNE3 Q6ZMZ3 VAR_031232 p.Arg864His Polymorphism rs17092216 - SYNE3 Q6ZMZ3 VAR_031233 p.Ala923Val Polymorphism rs12434757 - SYNE3 Q6ZMZ3 VAR_031234 p.Ile946Val Polymorphism rs10130647 - SYNE4 Q8N205 VAR_035284 p.Ser224Leu Polymorphism rs34818970 - SYNE4 Q8N205 VAR_035285 p.Gln278His Polymorphism rs2285422 - SYNGAP1 Q96PV0 VAR_065078 p.Asp201Glu Polymorphism - - SYNGAP1 Q96PV0 VAR_065079 p.Arg749Gln Polymorphism - - SYNGAP1 Q96PV0 VAR_065080 p.Thr790Asn Polymorphism - - SYNGAP1 Q96PV0 VAR_065081 p.Gly991Arg Polymorphism - - SYNGAP1 Q96PV0 VAR_065082 p.Ile1115Thr Polymorphism - - SYNGAP1 Q96PV0 VAR_065083 p.Pro1283Leu Polymorphism - - SYNGAP1 Q96PV0 VAR_065084 p.Thr1310Met Polymorphism - - SYNGR1 O43759 VAR_060490 p.Asp222Gly Unclassified - - SYNGR4 O95473 VAR_052245 p.Arg27Trp Polymorphism rs919804 - SYNJ1 O43426 VAR_047308 p.Lys295Arg Polymorphism rs2254562 - SYNJ1 O43426 VAR_047309 p.Val1366Ala Polymorphism rs9980589 - SYNJ1 O43426 VAR_047310 p.Leu1545Pro Polymorphism rs2230767 - SYNJ1 O43426 VAR_049603 p.Pro1547Leu Polymorphism rs2230767 - SYNJ1 O43426 VAR_059357 p.Pro1508Leu Polymorphism rs2230767 - SYNJ2BP P57105 VAR_051394 p.Val9Ile Polymorphism rs4356408 - SYNJ2 O15056 VAR_024507 p.Glu1468Gly Polymorphism rs2502601 - SYNM O15061 VAR_012295 p.Ala272Val Polymorphism - - SYNM O15061 VAR_012296 p.Val330Ile Polymorphism - - SYNM O15061 VAR_012297 p.Arg338Trp Polymorphism - - SYNM O15061 VAR_012298 p.Pro567Leu Polymorphism - - SYNM O15061 VAR_012299 p.Glu612Ala Polymorphism - - SYNM O15061 VAR_012300 p.Pro761Leu Polymorphism - - SYNM O15061 VAR_012301 p.Arg946Trp Polymorphism - - SYNM O15061 VAR_012302 p.Gln976Arg Polymorphism - - SYNM O15061 VAR_012303 p.Pro1059Leu Polymorphism - - SYNM O15061 VAR_012304 p.Arg1067Pro Polymorphism - - SYNM O15061 VAR_012305 p.Ser1077Leu Polymorphism - - SYNM O15061 VAR_012306 p.Gly1386Glu Polymorphism rs2292288 - SYNM O15061 VAR_012307 p.Phe1462Cys Polymorphism rs2292287 - SYNM O15061 VAR_059378 p.Arg355Trp Polymorphism rs3743242 - SYNM O15061 VAR_059379 p.Gly462Ser Polymorphism rs3134595 - SYNM O15061 VAR_059380 p.Gly1130Ser Polymorphism rs9920074 - SYNM O15061 VAR_059381 p.Gly1345Ala Polymorphism rs7167599 - SYNPO2L Q9H987 VAR_019671 p.Pro707Leu Polymorphism rs3812629 - SYNPO2L Q9H987 VAR_047065 p.Ser833Tyr Polymorphism rs34163229 - SYNPO2L Q9H987 VAR_061835 p.Pro508His Polymorphism rs57006992 - SYNPO2 Q9UMS6 VAR_019670 p.Thr573Ala Polymorphism rs7698598 - SYNPO2 Q9UMS6 VAR_057256 p.Gly154Ala Polymorphism rs12645298 - SYNPO2 Q9UMS6 VAR_057257 p.Gln174His Polymorphism rs17263971 - SYNPO2 Q9UMS6 VAR_057258 p.Ala179Thr Polymorphism rs17050152 - SYNRG Q9UMZ2 VAR_051395 p.Ala40Gly Polymorphism rs12944821 - SYNRG Q9UMZ2 VAR_051396 p.Thr222Ala Polymorphism rs12602536 - SYP P08247 VAR_062983 p.Leu2Gln Polymorphism - - SYP P08247 VAR_062984 p.Ser158Leu Polymorphism - - SYP P08247 VAR_062985 p.Asp166Asn Polymorphism - - SYP P08247 VAR_062986 p.Gly217Arg Disease - Mental retardation X-linked SYP-related (MRXSYP) [MIM:300802] SYP P08247 VAR_062987 p.Asp248Asn Polymorphism - - SYP P08247 VAR_062988 p.Asp277Glu Unclassified - - SYP P08247 VAR_062989 p.Gly293Ser Unclassified - - SYT10 Q6XYQ8 VAR_034529 p.Thr420Ser Polymorphism rs35190376 - SYT10 Q6XYQ8 VAR_034530 p.His488Pro Polymorphism rs34190017 - SYT10 Q6XYQ8 VAR_034531 p.Ala505Val Polymorphism rs34361405 - SYT10 Q6XYQ8 VAR_059826 p.Ser172Ile Polymorphism rs12317722 - SYT11 Q9BT88 VAR_047656 p.Gln48His Polymorphism rs822522 - SYT11 Q9BT88 VAR_047657 p.Gly231Val Polymorphism rs17853892 - SYT12 Q8IV01 VAR_034532 p.Asn170His Polymorphism rs11227664 - SYT14L Q58G82 VAR_038691 p.Thr97Met Polymorphism rs3819257 - SYT16 Q17RD7 VAR_028930 p.Val10Ala Polymorphism rs8019076 - SYT16 Q17RD7 VAR_028931 p.Arg131Leu Polymorphism rs17099370 - SYT3 Q9BQG1 VAR_036389 p.Ser474Phe Unclassified - A breast cancer sample SYT4 Q9H2B2 VAR_052239 p.Ser142Asn Polymorphism rs16977447 - SYT5 O00445 VAR_034528 p.Arg111Gln Polymorphism rs11542503 - SYT5 O00445 VAR_052240 p.Glu4Asp Polymorphism rs2301279 - SYT7 O43581 VAR_052241 p.Ile332Asn Polymorphism rs407740 - SYT8 Q8NBV8 VAR_046952 p.Cys120Arg Polymorphism rs564271 - SYT8 Q8NBV8 VAR_046953 p.Phe129Ile Polymorphism rs34141314 - SYT8 Q8NBV8 VAR_061834 p.His17Gln Polymorphism rs57344881 - SYT9 Q86SS6 VAR_036390 p.Asp445Asn Unclassified - A colorectal cancer sample SYT9 Q86SS6 VAR_065760 p.Val154Met Polymorphism - - SYT9 Q86SS6 VAR_065761 p.Ile238Val Polymorphism - - SYT9 Q86SS6 VAR_065762 p.Leu353Val Polymorphism - - SYTL3 Q4VX76 VAR_037137 p.Pro414Ser Polymorphism rs901363 - SYTL3 Q4VX76 VAR_037138 p.Val540Ile Polymorphism rs2291388 - SYTL3 Q4VX76 VAR_037139 p.Leu587Gln Polymorphism rs3123101 - SYTL4 Q96C24 VAR_016076 p.Ile420Val Polymorphism rs2022039 - SYTL5 Q8TDW5 VAR_024601 p.Ile275Val Polymorphism rs4827331 - SYTL5 Q8TDW5 VAR_061753 p.Arg302Cys Polymorphism rs57226394 - TAAR1 Q96RJ0 VAR_049445 p.Arg23Cys Polymorphism rs8192618 - TAAR1 Q96RJ0 VAR_049446 p.Thr252Ala Polymorphism rs6926857 - TAAR5 O14804 VAR_055923 p.Thr272Met Polymorphism rs34746740 - TAAR5 O14804 VAR_055924 p.Arg330Cys Polymorphism rs35839363 - TAAR6 Q96RI8 VAR_019794 p.Ile37Thr Polymorphism rs17061399 - TAAR6 Q96RI8 VAR_019795 p.Gly165Ser Polymorphism rs17061401 - TAAR6 Q96RI8 VAR_019796 p.Tyr173Cys Polymorphism rs17061404 - TAAR6 Q96RI8 VAR_019797 p.Ala228Val Polymorphism rs17061409 - TAAR6 Q96RI8 VAR_019798 p.Val265Ile Polymorphism rs8192624 - TAAR6 Q96RI8 VAR_019799 p.Cys291Tyr Polymorphism rs8192625 - TAAR6 Q96RI8 VAR_019800 p.Val326Ile Polymorphism rs17061419 - TAAR6 Q96RI8 VAR_061227 p.Tyr99Cys Polymorphism rs41298395 - TAAR8 Q969N4 VAR_049447 p.Ser153Asn Polymorphism rs8192626 - TAAR8 Q969N4 VAR_049448 p.Asp328Ala Polymorphism rs8192627 - TAAR9 Q96RI9 VAR_049449 p.Ala278Thr Polymorphism rs9389004 - TAB1 Q15750 VAR_039271 p.Asp224Glu Polymorphism rs17001096 - TAB2 Q9NYJ8 VAR_063774 p.Pro208Ser Disease - Congenital heart disease non-syndromic type 2 (CHTD2) [MIM:614980] TAB2 Q9NYJ8 VAR_063775 p.Gln230Lys Disease - Congenital heart disease non-syndromic type 2 (CHTD2) [MIM:614980] TAB3 Q8N5C8 VAR_055294 p.Trp394Arg Polymorphism rs5927629 - TACC1 O75410 VAR_053703 p.Pro187Leu Polymorphism rs34235313 - TACC1 O75410 VAR_053704 p.Ile243Thr Polymorphism rs6980553 - TACC1 O75410 VAR_053705 p.Glu255Gly Polymorphism rs10107016 - TACC2 O95359 VAR_020478 p.Asn2102Ser Polymorphism rs3750843 - TACC2 O95359 VAR_020479 p.Val2197Ala Polymorphism rs2295873 - TACC2 O95359 VAR_020480 p.Leu2261His Polymorphism rs2295876 - TACC2 O95359 VAR_020481 p.Val2718Ile Polymorphism rs2295878 - TACC2 O95359 VAR_020482 p.Ala2732Thr Polymorphism rs2295879 - TACC2 O95359 VAR_029803 p.Ile2078Thr Polymorphism rs7083331 - TACC2 O95359 VAR_029804 p.Ala2210Val Polymorphism rs2295874 - TACC2 O95359 VAR_029805 p.Gln2900Lys Polymorphism rs1063627 - TACC2 O95359 VAR_036381 p.Leu798Val Unclassified - A breast cancer sample TACC2 O95359 VAR_036382 p.Ala1347Ser Unclassified - A breast cancer sample TACC2 O95359 VAR_053706 p.Val170Ile Polymorphism rs11200385 - TACC2 O95359 VAR_053707 p.Leu830Phe Polymorphism rs10887063 - TACC2 O95359 VAR_053708 p.Trp1103Arg Polymorphism rs7073433 - TACC2 O95359 VAR_053709 p.Ala1425Thr Polymorphism rs4752642 - TACC2 O95359 VAR_053710 p.Pro1492Leu Polymorphism rs7920896 - TACC2 O95359 VAR_053711 p.Glu1916Lys Polymorphism rs12765679 - TACC2 O95359 VAR_053712 p.Pro2216Leu Polymorphism rs2295875 - TACC2 O95359 VAR_053713 p.Glu2271Asp Polymorphism rs11200483 - TACC3 Q9Y6A5 VAR_053714 p.Glu143Lys Polymorphism rs34205238 - TACC3 Q9Y6A5 VAR_053715 p.Cys275Tyr Polymorphism rs17132047 - TACC3 Q9Y6A5 VAR_053716 p.Gly287Ser Polymorphism rs1063743 - TACC3 Q9Y6A5 VAR_053717 p.Gly514Glu Polymorphism rs17680881 - TACO1 Q9BSH4 VAR_052934 p.Gly145Ser Polymorphism rs35252424 - TACR1 P25103 VAR_026826 p.Tyr192His Unclassified - - TACR2 P21452 VAR_014680 p.Arg375His Polymorphism rs2229170 - TACR2 P21452 VAR_016159 p.Ile23Thr Polymorphism rs5030920 - TACR2 P21452 VAR_061221 p.Ala47Thr Polymorphism rs57500981 - TACR2 P21452 VAR_061222 p.Met245Lys Polymorphism rs55953810 - TACR2 P21452 VAR_061223 p.Thr363Ala Polymorphism rs57900755 - TACR2 P21452 VAR_061224 p.His395Arg Polymorphism rs58692969 - TACR3 P29371 VAR_049422 p.Lys286Arg Polymorphism rs2276973 - TACR3 P29371 VAR_049423 p.Ala449Thr Polymorphism rs17033889 - TACSTD2 P09758 VAR_012451 p.Asp173Ala Polymorphism rs35075952 - TACSTD2 P09758 VAR_016981 p.Asp216Glu Polymorphism rs14008 - TACSTD2 P09758 VAR_051407 p.Glu147Asp Polymorphism rs1062964 - TADA1 Q96BN2 VAR_038352 p.Arg198Gln Polymorphism rs2272792 - TADA2A O75478 VAR_047466 p.Pro6Ser Polymorphism rs7211875 - TADA2A O75478 VAR_047467 p.Met115Val Polymorphism rs1054865 - TADA2A O75478 VAR_047468 p.Ile351Met Polymorphism rs2522969 - TAF10 Q12962 VAR_013706 p.Ile92Thr Polymorphism rs3176311 - TAF11 Q15544 VAR_016333 p.Thr68Arg Polymorphism rs15922 - TAF11 Q15544 VAR_052261 p.Ser155Phe Polymorphism rs11537996 - TAF1A Q15573 VAR_052253 p.Ile98Met Polymorphism rs17163271 - TAF1B Q53T94 VAR_029378 p.Ala6Ser Polymorphism rs2303914 - TAF1B Q53T94 VAR_029379 p.Val282Ile Polymorphism rs396190 - TAF1B Q53T94 VAR_029380 p.Thr351Ala Polymorphism rs1054565 - TAF1B Q53T94 VAR_029381 p.Glu462Asp Polymorphism rs1820965 - TAF1B Q53T94 VAR_029382 p.Thr487Met Polymorphism rs16867245 - TAF1B Q53T94 VAR_057260 p.Arg292His Polymorphism rs16867223 - TAF1C Q15572 VAR_023245 p.Ser304Phe Polymorphism rs4150145 - TAF1C Q15572 VAR_023246 p.Arg357His Polymorphism rs4150147 - TAF1C Q15572 VAR_023247 p.Ser387Leu Polymorphism rs4150151 - TAF1C Q15572 VAR_023248 p.His518Tyr Polymorphism rs4150165 - TAF1C Q15572 VAR_023249 p.Pro573Leu Polymorphism rs4150170 - TAF1C Q15572 VAR_023250 p.Leu575Met Polymorphism rs2230129 - TAF1C Q15572 VAR_023251 p.Ala591Gly Polymorphism rs4150172 - TAF1C Q15572 VAR_023252 p.Gly635Ser Polymorphism rs4150173 - TAF1C Q15572 VAR_023253 p.Thr791Met Polymorphism rs4150175 - TAF1C Q15572 VAR_023254 p.Pro793Leu Polymorphism rs2230131 - TAF1C Q15572 VAR_023255 p.Arg816His Polymorphism rs4150176 - TAF1C Q15572 VAR_057261 p.Gly523Arg Polymorphism rs4150167 - TAF1C Q15572 VAR_057262 p.Pro808Ser Polymorphism rs3743640 - TAF1C Q15572 VAR_058966 p.Cys91Tyr Polymorphism rs4782591 - TAF1L Q8IZX4 VAR_041934 p.Gly47Ala Unclassified - A lung small cell carcinoma sample TAF1L Q8IZX4 VAR_041935 p.Gln171Glu Polymorphism - - TAF1L Q8IZX4 VAR_041936 p.Gly256Ala Polymorphism rs55991718 - TAF1L Q8IZX4 VAR_041937 p.Met371Val Polymorphism rs17219559 - TAF1L Q8IZX4 VAR_041938 p.Ile532Asn Polymorphism rs56128445 - TAF1L Q8IZX4 VAR_041939 p.Pro637Ser Polymorphism rs56157814 - TAF1L Q8IZX4 VAR_041940 p.Leu750Phe Unclassified - A lung adenocarcinoma sample TAF1L Q8IZX4 VAR_041941 p.Leu762Ile Unclassified - A lung adenocarcinoma sample TAF1L Q8IZX4 VAR_041942 p.Glu794Asp Unclassified - A lung adenocarcinoma sample TAF1L Q8IZX4 VAR_041943 p.Arg845Gln Polymorphism rs34787787 - TAF1L Q8IZX4 VAR_041944 p.Arg1016Cys Polymorphism rs35905429 - TAF1L Q8IZX4 VAR_041945 p.Lys1038Asn Polymorphism rs55767137 - TAF1L Q8IZX4 VAR_041946 p.Thr1169Ile Polymorphism rs55976674 - TAF1L Q8IZX4 VAR_041947 p.Val1312Leu Polymorphism rs55824107 - TAF1L Q8IZX4 VAR_041948 p.Arg1356Cys Polymorphism rs56107531 - TAF1L Q8IZX4 VAR_041949 p.Pro1389Ser Polymorphism rs56393725 - TAF1L Q8IZX4 VAR_041950 p.Ile1411Val Polymorphism rs34500740 - TAF1L Q8IZX4 VAR_041951 p.Ala1540Thr Polymorphism rs55782058 - TAF1L Q8IZX4 VAR_041952 p.His1549Tyr Unclassified - A glioblastoma multiforme sample TAF1L Q8IZX4 VAR_041953 p.Lys1731Asn Polymorphism rs34241003 - TAF1L Q8IZX4 VAR_041954 p.Pro1810Leu Polymorphism rs56342342 - TAF1L Q8IZX4 VAR_041955 p.His1824Gln Unclassified - A lung adenocarcinoma sample TAF1L Q8IZX4 VAR_048434 p.Met820Thr Polymorphism rs1258 - TAF1L Q8IZX4 VAR_048435 p.Ile1805Val Polymorphism rs16918393 - TAF1 P21675 VAR_020678 p.Leu269Val Polymorphism rs28382158 - TAF1 P21675 VAR_041930 p.Ala297Gly Polymorphism rs35317750 - TAF1 P21675 VAR_041931 p.Gly453Asp Unclassified - A colorectal adenocarcinoma sample TAF1 P21675 VAR_041932 p.Glu651Lys Unclassified - A metastatic melanoma sample TAF1 P21675 VAR_041933 p.Met691Ile Unclassified - A lung bronchoalveolar carcinoma sample TAF1 P21675 VAR_048433 p.Val1383Ile Polymorphism rs7050748 - TAF2 Q6P1X5 VAR_027854 p.Pro8Leu Polymorphism rs17818842 - TAF2 Q6P1X5 VAR_027855 p.Ser447Thr Polymorphism rs9297605 - TAF2 Q6P1X5 VAR_027856 p.Ser1122Asn Polymorphism rs956749 - TAF2 Q6P1X5 VAR_027857 p.Thr1139Ala Polymorphism rs956748 - TAF2 Q6P1X5 VAR_057263 p.Glu686Lys Polymorphism rs34154779 - TAF3 Q5VWG9 VAR_052254 p.Ser349Thr Polymorphism rs17366712 - TAF3 Q5VWG9 VAR_052255 p.Asn442Ser Polymorphism rs4747647 - TAF3 Q5VWG9 VAR_052256 p.Val696Ala Polymorphism rs1244229 - TAF3 Q5VWG9 VAR_052257 p.Val696Leu Polymorphism rs10795583 - TAF4B Q92750 VAR_052259 p.Ile249Val Polymorphism rs16942219 - TAF4B Q92750 VAR_061836 p.Asn539Ser Polymorphism rs12963653 - TAF4 O00268 VAR_052258 p.Pro651Leu Polymorphism rs6089604 - TAF5 Q15542 VAR_018462 p.Ser130Ala Polymorphism rs10883859 - TAF6 P49848 VAR_014349 p.Cys36Ser Polymorphism rs4134897 - TAF7L Q5H9L4 VAR_036695 p.Leu34Pro Polymorphism rs5951328 - TAF7L Q5H9L4 VAR_036696 p.Glu61Lys Polymorphism - - TAF7L Q5H9L4 VAR_036697 p.Ser308Gly Polymorphism rs35899692 - TAF7L Q5H9L4 VAR_036699 p.Arg458His Polymorphism rs41310729 - TAF7 Q15545 VAR_005629 p.Ser178Arg Polymorphism - - TAF9 Q16594 VAR_016279 p.Thr6Met Polymorphism rs4252233 - TAF9 Q16594 VAR_052260 p.Gln210His Polymorphism rs11542580 - TAGAP Q8N103 VAR_049146 p.Gly346Asp Polymorphism rs35263580 - TAGLN2 P37802 VAR_047903 p.Leu69Gln Polymorphism rs17849636 - TAGLN Q01995 VAR_048670 p.Asn182Ser Polymorphism rs12284316 - TAK1L P57077 VAR_051408 p.Ile112Val Polymorphism rs3746843 - TAMM41 Q96BW9 VAR_027276 p.Asn116Ser Polymorphism rs7641243 - TAMM41 Q96BW9 VAR_053649 p.Ile179Val Polymorphism rs11551661 - TANC1 Q9C0D5 VAR_038435 p.Asn251Ser Polymorphism rs12466551 - TANC1 Q9C0D5 VAR_038436 p.Gly1511Ser Polymorphism rs13421084 - TANC1 Q9C0D5 VAR_038437 p.Thr1573Ala Polymorphism rs4664277 - TANC1 Q9C0D5 VAR_061022 p.Pro30Ser Polymorphism rs34588551 - TANGO2 Q6ICL3 VAR_028742 p.Asp125Asn Polymorphism rs17855650 - TANGO2 Q6ICL3 VAR_028743 p.Glu200Lys Polymorphism rs17854107 - TANGO2 Q6ICL3 VAR_028744 p.Asp245Glu Polymorphism rs16982614 - TANK Q92844 VAR_051409 p.Gly292Arg Polymorphism rs10183668 - TANK Q92844 VAR_051410 p.Pro358Leu Polymorphism rs2229759 - TANK Q92844 VAR_051411 p.Arg394Gln Polymorphism rs3769969 - TAOK1 Q7L7X3 VAR_041204 p.Ala855Thr Polymorphism rs34151057 - TAOK3 Q9H2K8 VAR_023691 p.Ser47Asn Polymorphism rs428073 - TAOK3 Q9H2K8 VAR_041205 p.Pro20Thr Unclassified - A lung adenocarcinoma sample TAOK3 Q9H2K8 VAR_041206 p.Ser392Tyr Unclassified - A lung small cell carcinoma sample TAOK3 Q9H2K8 VAR_041207 p.Cys727Tyr Polymorphism rs55857273 - TAP1 Q03518 VAR_000092 p.Ile393Val Polymorphism rs1057141 - TAP1 Q03518 VAR_000093 p.Asp697Gly Polymorphism rs1135216 - TAP1 Q03518 VAR_013151 p.Ala430Val Polymorphism rs2127679 - TAP1 Q03518 VAR_013152 p.Val518Leu Polymorphism rs41550019 - TAP1 Q03518 VAR_013153 p.Val578Ile Polymorphism rs41561219 - TAP1 Q03518 VAR_013154 p.Arg708Gln Polymorphism rs1057149 - TAP1 Q03518 VAR_013173 p.Arg719Gln Unclassified - A lung cancer cell line deficient in MHC class I presentation TAP1 Q03518 VAR_016801 p.Pro67Ser Polymorphism - - TAP1 Q03518 VAR_016802 p.Gly77Arg Polymorphism rs57640466 - TAP1 Q03518 VAR_016803 p.Gly479Cys Polymorphism rs2228110 - TAP1 Q03518 VAR_047514 p.Gln768Arg Polymorphism rs1057149 - TAP1 Q03518 VAR_048137 p.Leu170Val Polymorphism rs2228108 - TAP1 Q03518 VAR_048138 p.Ser346Phe Polymorphism rs2228111 - TAP1 Q03518 VAR_060987 p.Val304Leu Polymorphism rs36229525 - TAP2 Q03519 VAR_000094 p.Val379Ile Polymorphism rs1800454 - TAP2 Q03519 VAR_000095 p.Ala565Thr Polymorphism rs2228396 - TAP2 Q03519 VAR_000096 p.Arg651Cys Polymorphism rs4148876 - TAP2 Q03519 VAR_000097 p.Thr665Ala Polymorphism rs241447 - TAP2 Q03519 VAR_014997 p.Ala374Thr Polymorphism - - TAP2 Q03519 VAR_014998 p.Val467Ile Polymorphism - - TAP2 Q03519 VAR_014999 p.Ala513Ser Polymorphism - - TAP2 Q03519 VAR_015000 p.Met577Val Polymorphism rs2228391 - TAP2 Q03519 VAR_036873 p.Arg56Lys Polymorphism rs17220192 - TAPBPL Q9BX59 VAR_033627 p.Gly151Arg Polymorphism rs7295376 - TAPBPL Q9BX59 VAR_056090 p.Thr334Met Polymorphism rs1045546 - TAPBP O15533 VAR_010253 p.Arg260Thr Polymorphism rs2071888 - TAPT1 Q6NXT6 VAR_042568 p.Glu465Lys Polymorphism rs35606284 - TAPT1 Q6NXT6 VAR_042569 p.Asn522Ser Polymorphism rs16893137 - TARBP1 Q13395 VAR_030101 p.Leu221Pro Polymorphism rs12082990 - TARBP1 Q13395 VAR_030102 p.Ala425Thr Polymorphism rs10910439 - TARBP1 Q13395 VAR_030103 p.Ser678Gly Polymorphism rs4920246 - TARBP1 Q13395 VAR_030104 p.Asn743Ser Polymorphism rs2273872 - TARBP1 Q13395 VAR_030105 p.His864Pro Polymorphism rs4272658 - TARBP1 Q13395 VAR_030106 p.Phe997Leu Polymorphism rs12135427 - TARBP1 Q13395 VAR_030107 p.Thr1038Ile Polymorphism rs3820602 - TARBP1 Q13395 VAR_030108 p.Ile1359Val Polymorphism rs3738616 - TARBP1 Q13395 VAR_030109 p.Ile1461Val Polymorphism rs2275654 - TARBP1 Q13395 VAR_061907 p.Asp513Gly Polymorphism rs35562024 - TARBP2 Q15633 VAR_046992 p.Ser251Phe Polymorphism rs1126500 - TARDBP Q13148 VAR_045656 p.Ala90Val Polymorphism rs80356715 - TARDBP Q13148 VAR_045657 p.Asp169Gly Disease rs80356717 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045658 p.Gly287Ser Disease rs80356719 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045659 p.Gly290Ala Disease rs121908395 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045660 p.Gly294Ala Disease rs80356721 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045661 p.Gly298Ser Disease rs4884357 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045662 p.Ala315Thr Disease rs80356726 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045663 p.Gln331Lys Disease rs80356727 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045664 p.Met337Val Disease rs80356730 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045665 p.Gly348Cys Disease rs80356733 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045666 p.Arg361Ser Disease rs80356735 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045667 p.Ala382Thr Disease rs11689432 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045668 p.Asn390Asp Disease rs80356741 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_045669 p.Asn390Ser Disease rs80356742 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058611 p.Asn267Ser Disease rs80356718 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058612 p.Gly294Val Disease - Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058613 p.Gly295Arg Disease rs80356723 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058614 p.Gly295Ser Disease rs80356723 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058615 p.Ser332Asn Disease rs80356728 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058616 p.Gly335Asp Disease rs80356729 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058617 p.Ser379Cys Disease rs80356739 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058618 p.Ser379Pro Disease rs80356738 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_058619 p.Ser393Leu Disease rs80356743 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARDBP Q13148 VAR_062767 p.Gln343Arg Disease rs80356731 Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] TARM1 B6A8C7 VAR_063151 p.Ser37Pro Polymorphism rs17305269 - TARM1 B6A8C7 VAR_063152 p.Arg111His Polymorphism rs80087697 - TARM1 B6A8C7 VAR_063153 p.Arg258Trp Polymorphism rs77768804 - TARS P26639 VAR_034533 p.Gly21Asp Polymorphism rs34334786 - TAS1R1 Q7RTX1 VAR_036707 p.Lys347Glu Polymorphism rs10864628 - TAS1R1 Q7RTX1 VAR_036708 p.Ala372Thr Polymorphism rs34160967 - TAS1R1 Q7RTX1 VAR_036709 p.Arg507Gln Polymorphism rs35118458 - TAS1R2 Q8TE23 VAR_020787 p.Ala574Thr Polymorphism rs6662276 - TAS1R2 Q8TE23 VAR_027901 p.Ser9Cys Polymorphism rs9701796 - TAS1R2 Q8TE23 VAR_027902 p.Arg838Lys Polymorphism rs9988418 - TAS1R2 Q8TE23 VAR_061199 p.Ile191Val Polymorphism rs35874116 - TAS1R2 Q8TE23 VAR_061200 p.Arg317Gly Polymorphism rs34447754 - TAS1R2 Q8TE23 VAR_061201 p.Ile486Val Polymorphism rs28374389 - TAS1R2 Q8TE23 VAR_061202 p.Ile595Thr Polymorphism rs41273167 - TAS1R3 Q7RTX0 VAR_020788 p.Cys757Arg Polymorphism rs307377 - TAS2R10 Q9NYW0 VAR_030009 p.Thr156Met Polymorphism rs597468 - TAS2R13 Q9NYV9 VAR_021853 p.Asn259Ser Polymorphism rs1015443 - TAS2R13 Q9NYV9 VAR_036432 p.Asn149Ser Unclassified - A breast cancer sample TAS2R14 Q9NYV8 VAR_053347 p.Thr86Ala Polymorphism rs16925868 - TAS2R14 Q9NYV8 VAR_062085 p.Leu201Phe Polymorphism rs35804287 - TAS2R16 Q9NYV7 VAR_020205 p.Arg222His Polymorphism rs860170 - TAS2R16 Q9NYV7 VAR_034539 p.Asn172Lys Polymorphism rs846664 - TAS2R19 P59542 VAR_053354 p.Lys126Gln Polymorphism rs12424373 - TAS2R19 P59542 VAR_053355 p.Arg299Cys Polymorphism rs10772420 - TAS2R1 Q9NYW7 VAR_020198 p.Arg111His Polymorphism rs41469 - TAS2R1 Q9NYW7 VAR_020199 p.Arg206Trp Polymorphism rs2234233 - TAS2R1 Q9NYW7 VAR_053340 p.Cys141Tyr Polymorphism rs2234232 - TAS2R20 P59543 VAR_053356 p.Lys79Glu Polymorphism rs7135018 - TAS2R20 P59543 VAR_053357 p.His143Gln Polymorphism rs12226920 - TAS2R20 P59543 VAR_053358 p.His148Asn Polymorphism rs12226919 - TAS2R20 P59543 VAR_053359 p.Ile236Val Polymorphism rs10845281 - TAS2R20 P59543 VAR_053360 p.Phe252Ser Polymorphism rs10845280 - TAS2R20 P59543 VAR_053361 p.Arg255Leu Polymorphism rs10845279 - TAS2R31 P59538 VAR_030684 p.Arg35Trp Polymorphism rs10845295 - TAS2R31 P59538 VAR_030685 p.Leu162Met Polymorphism rs10743938 - TAS2R31 P59538 VAR_030686 p.Gln217Glu Polymorphism rs10845294 - TAS2R31 P59538 VAR_030687 p.Ala227Val Polymorphism rs10845293 - TAS2R31 P59538 VAR_030688 p.Val240Ile Polymorphism rs10772423 - TAS2R31 P59538 VAR_062090 p.Pro276Arg Polymorphism rs12318612 - TAS2R38 P59533 VAR_017860 p.Ala49Pro Polymorphism rs713598 - TAS2R38 P59533 VAR_017861 p.Ala262Val Polymorphism rs1726866 - TAS2R38 P59533 VAR_017862 p.Ile296Val Polymorphism rs10246939 - TAS2R39 P59534 VAR_053348 p.Ser193Phe Polymorphism rs35474877 - TAS2R39 P59534 VAR_053349 p.Lys197Glu Polymorphism rs34169190 - TAS2R40 P59535 VAR_053350 p.Val23Leu Polymorphism rs17164164 - TAS2R40 P59535 VAR_053351 p.Ser187Tyr Polymorphism rs10260248 - TAS2R41 P59536 VAR_060211 p.Pro127Leu Polymorphism rs10278721 - TAS2R42 Q7RTR8 VAR_053352 p.Phe196Ser Polymorphism rs5020531 - TAS2R42 Q7RTR8 VAR_053353 p.Tyr265Cys Polymorphism rs1451772 - TAS2R42 Q7RTR8 VAR_062086 p.Tyr175Phe Polymorphism rs35969491 - TAS2R42 Q7RTR8 VAR_062087 p.Gly255Trp Polymorphism rs1669413 - TAS2R42 Q7RTR8 VAR_062088 p.Arg292Gln Polymorphism rs1669412 - TAS2R42 Q7RTR8 VAR_062089 p.Ala311Pro Polymorphism rs1650017 - TAS2R46 P59540 VAR_062091 p.Leu228Met Polymorphism rs2708380 - TAS2R4 Q9NYW5 VAR_020200 p.Thr74Met Polymorphism rs2234000 - TAS2R4 Q9NYW5 VAR_020201 p.Val96Leu Polymorphism rs2234001 - TAS2R4 Q9NYW5 VAR_020202 p.Ser171Asn Polymorphism rs2234002 - TAS2R4 Q9NYW5 VAR_034535 p.Arg3Gln Polymorphism rs2233995 - TAS2R4 Q9NYW5 VAR_034536 p.Phe7Ser Polymorphism rs2233998 - TAS2R4 Q9NYW5 VAR_053341 p.Phe62Leu Polymorphism rs2233999 - TAS2R4 Q9NYW5 VAR_053342 p.Ile191Val Polymorphism rs2234003 - TAS2R50 P59544 VAR_024187 p.Cys203Tyr Polymorphism rs1376251 - TAS2R5 Q9NYW4 VAR_020203 p.Ser26Ile Polymorphism rs2227264 - TAS2R5 Q9NYW4 VAR_024184 p.Arg213Gln Polymorphism rs2234015 - TAS2R5 Q9NYW4 VAR_034537 p.Pro113Leu Polymorphism rs2234014 - TAS2R5 Q9NYW4 VAR_034538 p.Tyr167Cys Polymorphism rs34529840 - TAS2R5 Q9NYW4 VAR_053343 p.Gly20Ser Polymorphism rs2234013 - TAS2R5 Q9NYW4 VAR_053344 p.Arg294Leu Polymorphism rs2234016 - TAS2R7 Q9NYW3 VAR_021852 p.Thr263Ser Polymorphism rs3759251 - TAS2R7 Q9NYW3 VAR_024185 p.Met304Ile Polymorphism rs619381 - TAS2R7 Q9NYW3 VAR_062084 p.Thr263Met Polymorphism rs11838055 - TAS2R8 Q9NYW2 VAR_024186 p.Met308Val Polymorphism rs2537817 - TAS2R9 Q9NYW1 VAR_020204 p.Val187Ala Polymorphism rs3741845 - TAS2R9 Q9NYW1 VAR_053345 p.Lys170Gln Polymorphism rs11054043 - TAS2R9 Q9NYW1 VAR_053346 p.Leu238Val Polymorphism rs11054042 - TATDN2 Q93075 VAR_047028 p.His217Arg Polymorphism rs2241314 - TATDN2 Q93075 VAR_047029 p.Val256Ile Polymorphism rs394558 - TATDN2 Q93075 VAR_047030 p.Pro358Leu Polymorphism rs2075352 - TAT P17735 VAR_000560 p.Gly362Val Disease rs28934277 Tyrosinemia type 2 (TYRO2) [MIM:276600] TAT P17735 VAR_048226 p.Asn70Asp Polymorphism rs16973344 - TAX1BP1 Q86VP1 VAR_026286 p.Leu307Ile Polymorphism rs11540483 - TAX1BP1 Q86VP1 VAR_035665 p.Gln457Arg Unclassified - A breast cancer sample TAX1BP1 Q86VP1 VAR_051415 p.Ser58Asn Polymorphism rs7809260 - TAZ Q16635 VAR_014110 p.Arg94Ser Disease - Barth syndrome (BTHS) [MIM:302060] TAZ Q16635 VAR_014111 p.Cys118Arg Disease - Barth syndrome (BTHS) [MIM:302060] TAZ Q16635 VAR_014112 p.Gly197Arg Disease - Barth syndrome (BTHS) [MIM:302060] TBATA Q96M53 VAR_022998 p.Arg237Gln Polymorphism rs2254174 - TBC1D10A Q9BXI6 VAR_052541 p.Arg411His Polymorphism rs4823086 - TBC1D14 Q9P2M4 VAR_059856 p.Glu446Gln Polymorphism rs11731231 - TBC1D16 Q8TBP0 VAR_052542 p.Glu476Lys Polymorphism rs34845477 - TBC1D17 Q9HA65 VAR_024655 p.Leu99Pro Polymorphism rs3745486 - TBC1D17 Q9HA65 VAR_060276 p.Asp84Gly Polymorphism rs8109661 - TBC1D19 Q8N5T2 VAR_030602 p.Ser241Gly Polymorphism rs16878555 - TBC1D19 Q8N5T2 VAR_030603 p.Ser509Phe Polymorphism rs17852970 - TBC1D1 Q86TI0 VAR_028089 p.Ser14Pro Polymorphism rs2279027 - TBC1D1 Q86TI0 VAR_028090 p.Thr55Ile Polymorphism rs4008480 - TBC1D1 Q86TI0 VAR_028091 p.Val228Gly Polymorphism rs10501 - TBC1D1 Q86TI0 VAR_028092 p.Tyr685Ser Polymorphism rs7677030 - TBC1D1 Q86TI0 VAR_028093 p.Arg1136Gln Polymorphism rs13110318 - TBC1D1 Q86TI0 VAR_054392 p.Arg125Trp Polymorphism rs35859249 - TBC1D20 Q96BZ9 VAR_052543 p.Asn79Ser Polymorphism rs36088178 - TBC1D21 Q8IYX1 VAR_034544 p.Arg113Gln Polymorphism rs16958445 - TBC1D24 Q9ULP9 VAR_064365 p.Asp147His Disease - Familial infantile myoclonic epilepsy (FIME) [MIM:605021] TBC1D24 Q9ULP9 VAR_064366 p.Phe251Leu Disease - Familial infantile myoclonic epilepsy (FIME) [MIM:605021] TBC1D24 Q9ULP9 VAR_064367 p.Ala515Val Disease - Familial infantile myoclonic epilepsy (FIME) [MIM:605021] TBC1D25 Q3MII6 VAR_057345 p.Asn277Ser Polymorphism rs2293948 - TBC1D26 Q86UD7 VAR_043563 p.Ala206Val Polymorphism rs11650318 - TBC1D26 Q86UD7 VAR_047676 p.Gly234Ser Polymorphism rs17855672 - TBC1D2 Q9BYX2 VAR_046707 p.Pro241Thr Polymorphism rs879368 - TBC1D2 Q9BYX2 VAR_046708 p.Leu253Ser Polymorphism rs879369 - TBC1D2 Q9BYX2 VAR_046709 p.Gly261Val Polymorphism rs1573025 - TBC1D30 Q9Y2I9 VAR_039261 p.Gln296His Polymorphism rs11615287 - TBC1D30 Q9Y2I9 VAR_039262 p.Val752Ile Polymorphism rs939875 - TBC1D30 Q9Y2I9 VAR_052544 p.Asn596Asp Polymorphism rs2290527 - TBC1D30 Q9Y2I9 VAR_059857 p.Asn759Asp Polymorphism rs2290527 - TBC1D3 Q8IZP1 VAR_063088 p.Pro526Gln Polymorphism rs9078 - TBC1D4 O60343 VAR_052534 p.Thr1147Met Polymorphism rs9600455 - TBC1D4 O60343 VAR_052535 p.Val1275Ala Polymorphism rs557337 - TBC1D4 O60343 VAR_054862 p.Leu1284Ile Polymorphism rs11616741 - TBC1D4 O60343 VAR_059855 p.Val819Ile Polymorphism rs1062087 - TBC1D4 O60343 VAR_061891 p.Pro619Leu Polymorphism rs56223054 - TBC1D4 O60343 VAR_061892 p.Val1119Ala Polymorphism rs58232698 - TBC1D5 Q92609 VAR_052536 p.Ile696Val Polymorphism rs1138454 - TBC1D7 Q9P0N9 VAR_052537 p.Leu67Trp Polymorphism rs543580 - TBC1D7 Q9P0N9 VAR_052538 p.Ala136Thr Polymorphism rs9381921 - TBC1D8 O95759 VAR_022128 p.Arg1079Gly Polymorphism rs746924 - TBC1D8 O95759 VAR_022129 p.Met1108Val Polymorphism rs3739011 - TBC1D8 O95759 VAR_024654 p.Gly954Arg Polymorphism rs1062062 - TBC1D8 O95759 VAR_047500 p.Thr317Ala Polymorphism rs2289953 - TBC1D8 O95759 VAR_060542 p.Phe1073Leu Polymorphism rs1057580 - TBC1D9B Q66K14 VAR_032440 p.Leu240Pro Polymorphism rs1057078 - TBC1D9B Q66K14 VAR_032441 p.Val706Ile Polymorphism rs10037618 - TBC1D9B Q66K14 VAR_032442 p.Lys1119Thr Polymorphism rs30386 - TBC1D9B Q66K14 VAR_036196 p.Pro1086Gln Unclassified - A breast cancer sample TBC1D9 Q6ZT07 VAR_052539 p.Glu7Lys Polymorphism rs13108827 - TBC1D9 Q6ZT07 VAR_052540 p.Glu779Lys Polymorphism rs13118702 - TBCCD1 Q9NVR7 VAR_035123 p.Lys149Arg Polymorphism rs7619912 - TBCC Q15814 VAR_020448 p.Pro169Ser Polymorphism rs2234027 - TBCC Q15814 VAR_024653 p.Pro180Ser Polymorphism rs2234028 - TBCC Q15814 VAR_026822 p.Val65Ala Polymorphism rs2234026 - TBCC Q15814 VAR_026823 p.Gly157Asp Polymorphism rs7742995 - TBCC Q15814 VAR_026824 p.Ala279Thr Polymorphism rs12175072 - TBCD Q9BTW9 VAR_057264 p.Met617Thr Polymorphism rs2292971 - TBCD Q9BTW9 VAR_057265 p.Ser923Asn Polymorphism rs3214033 - TBCD Q9BTW9 VAR_057266 p.Gly943Val Polymorphism rs8072406 - TBCD Q9BTW9 VAR_057267 p.Leu1185Pro Polymorphism rs2292969 - TBCE Q15813 VAR_032921 p.Val205Ala Polymorphism rs16832611 - TBCE Q15813 VAR_032922 p.Ser333Thr Polymorphism rs35579976 - TBCE Q15813 VAR_032923 p.Glu409Gly Polymorphism rs16832619 - TBCK Q8TEA7 VAR_030123 p.Gln266Glu Polymorphism rs3775091 - TBCK Q8TEA7 VAR_030124 p.Lys489Asn Polymorphism rs2305685 - TBCK Q8TEA7 VAR_041380 p.Arg66Leu Polymorphism - - TBCK Q8TEA7 VAR_041381 p.Ile151Met Polymorphism - - TBCK Q8TEA7 VAR_041382 p.Asp265Asn Polymorphism - - TBCK Q8TEA7 VAR_041383 p.Thr425Met Polymorphism - - TBCK Q8TEA7 VAR_041384 p.Met471Ile Polymorphism - - TBCK Q8TEA7 VAR_041385 p.Arg503Ile Unclassified - A colorectal adenocarcinoma sample TBCK Q8TEA7 VAR_041386 p.Arg692Cys Polymorphism - - TBCK Q8TEA7 VAR_041387 p.Ile806Val Unclassified - A head & Neck squamous cell carcinoma sample TBK1 Q9UHD2 VAR_024746 p.Asn388Asp Polymorphism rs17857028 - TBK1 Q9UHD2 VAR_024747 p.Lys570Gln Polymorphism rs17853341 - TBK1 Q9UHD2 VAR_041208 p.Arg271Gln Polymorphism rs56196591 - TBK1 Q9UHD2 VAR_041209 p.Lys291Glu Polymorphism rs34774243 - TBK1 Q9UHD2 VAR_041210 p.Asp296His Unclassified - A breast pleomorphic lobular carcinoma sample TBK1 Q9UHD2 VAR_041211 p.Gly410Arg Unclassified - A colorectal adenocarcinoma sample TBK1 Q9UHD2 VAR_041212 p.Val464Ala Polymorphism rs35635889 - TBL2 Q9Y4P3 VAR_053420 p.Val345Ile Polymorphism rs35607697 - TBL3 Q12788 VAR_014479 p.Ser457Pro Polymorphism rs17605 - TBL3 Q12788 VAR_054320 p.Gln293Arg Polymorphism rs2230086 - TBL3 Q12788 VAR_054321 p.Glu294Gln Polymorphism rs8052713 - TBPL2 Q6SJ96 VAR_038692 p.Arg31Pro Polymorphism rs8019270 - TBR1 Q16650 VAR_052264 p.His289Gln Polymorphism rs12994035 - TBRG4 Q969Z0 VAR_030071 p.Ala22Ser Polymorphism rs2304694 - TBRG4 Q969Z0 VAR_030072 p.Pro57Leu Polymorphism rs2304693 - TBX10 O75333 VAR_021984 p.Lys101Thr Polymorphism rs3758938 - TBX10 O75333 VAR_052262 p.Gln160His Polymorphism rs11227873 - TBX15 Q96SF7 VAR_055341 p.His156Asn Polymorphism rs10494217 - TBX18 O95935 VAR_052263 p.Gly48Arg Polymorphism rs172562 - TBX19 O60806 VAR_018387 p.Ser128Phe Disease - ACTH deficiency isolated (IAD) [MIM:201400] TBX1 O43435 VAR_024657 p.Thr350Met Polymorphism rs4819522 - TBX1 O43435 VAR_034545 p.Gly310Ser Disease rs41298838 DiGeorge syndrome (DGS) [MIM:188400] TBX1 O43435 VAR_035025 p.Phe148Tyr Disease rs28939675 Conotruncal heart malformations (CTHM) [MIM:217095] TBX1 O43435 VAR_035025 p.Phe148Tyr Disease rs28939675 Velocardiofacial syndrome (VCFS) [MIM:192430] TBX1 O43435 VAR_035026 p.His194Gln Disease - Velocardiofacial syndrome (VCFS) [MIM:192430] TBX1 O43435 VAR_036065 p.Gly337Glu Unclassified - A colorectal cancer sample TBX20 Q9UMR3 VAR_036995 p.Ile152Met Disease - Atrial septal defect type 4 (ASD4) [MIM:611363] TBX21 Q9UL17 VAR_020252 p.His33Gln Polymorphism rs2240017 - TBX21 Q9UL17 VAR_029275 p.Ile339Val Polymorphism rs12721471 - TBX22 Q9Y458 VAR_015383 p.Gly118Cys Disease - X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] TBX22 Q9Y458 VAR_015384 p.Thr260Met Disease - X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021829 p.Leu214Pro Disease - X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021830 p.Asn264Tyr Disease rs28935177 X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021831 p.Met121Val Disease - X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021832 p.Pro183Leu Disease - X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] TBX22 Q9Y458 VAR_021833 p.Glu187Lys Polymorphism rs34244923 - TBX22 Q9Y458 VAR_036066 p.Val16Ala Unclassified - A colorectal cancer sample TBX22 Q9Y458 VAR_036067 p.Ala51Thr Unclassified - A colorectal cancer sample TBX22 Q9Y458 VAR_036068 p.Asp307Asn Unclassified - A colorectal cancer sample TBX3 O15119 VAR_009601 p.Leu143Pro Disease - Ulnar-mammary syndrome (UMS) [MIM:181450] TBX3 O15119 VAR_009602 p.Tyr149Ser Disease - Ulnar-mammary syndrome (UMS) [MIM:181450] TBX4 P57082 VAR_020251 p.Gly6Ala Polymorphism rs3744448 - TBX4 P57082 VAR_021983 p.Ala314Val Polymorphism rs3744438 - TBX4 P57082 VAR_026745 p.Gly248Val Disease rs28938474 Small patella syndrome (SPS) [MIM:147891] TBX4 P57082 VAR_026746 p.Gln531Arg Disease rs28936696 Small patella syndrome (SPS) [MIM:147891] TBX4 P57082 VAR_026772 p.Ala35Val Polymorphism - - TBX5 Q99593 VAR_007456 p.Arg237Gln Disease - Holt-Oram syndrome (HOS) [MIM:142900] TBX5 Q99593 VAR_009701 p.Gly80Arg Disease - Holt-Oram syndrome (HOS) [MIM:142900] TBX5 Q99593 VAR_009702 p.Arg237Trp Disease - Holt-Oram syndrome (HOS) [MIM:142900] TBX5 Q99593 VAR_015381 p.Gln49Lys Disease - Holt-Oram syndrome (HOS) [MIM:142900] TBX5 Q99593 VAR_015382 p.Ile54Thr Disease - Holt-Oram syndrome (HOS) [MIM:142900] TBX6 O95947 VAR_027836 p.Ser178Phe Polymorphism rs12925839 - TBX6 O95947 VAR_027837 p.Pro179Ser Polymorphism rs12925838 - TBX6 O95947 VAR_061837 p.Gly162Ser Polymorphism rs56098093 - TBXA2R P21731 VAR_003515 p.Arg60Leu Disease rs34377097 Bleeding disorder platelet-type 13 (BDPLT13) [MIM:614009] TBXA2R P21731 VAR_014688 p.Cys68Ser Polymorphism rs5743 - TBXA2R P21731 VAR_014689 p.Val80Glu Polymorphism rs5744 - TBXA2R P21731 VAR_014690 p.Glu94Val Polymorphism rs5746 - TBXA2R P21731 VAR_014691 p.Ala160Thr Polymorphism rs5749 - TBXA2R P21731 VAR_014692 p.Val176Glu Polymorphism rs5750 - TBXA2R P21731 VAR_014693 p.Val217Ile Polymorphism rs5751 - TBXAS1 P24557 VAR_010919 p.Asp160Glu Polymorphism rs5768 - TBXAS1 P24557 VAR_010920 p.Asn245Ser Polymorphism - - TBXAS1 P24557 VAR_010921 p.Leu356Val Polymorphism rs4529 - TBXAS1 P24557 VAR_010922 p.Gln416Glu Polymorphism rs4528 - TBXAS1 P24557 VAR_010923 p.Glu449Lys Polymorphism - - TBXAS1 P24557 VAR_010924 p.Thr450Asn Polymorphism rs5763 - TBXAS1 P24557 VAR_010925 p.Arg465Gln Polymorphism - - TBXAS1 P24557 VAR_014157 p.Arg60His Polymorphism rs6138 - TBXAS1 P24557 VAR_014158 p.Leu162Ile Polymorphism rs6137 - TBXAS1 P24557 VAR_014159 p.Ile331Thr Polymorphism rs6140 - TBXAS1 P24557 VAR_014160 p.Arg424Cys Polymorphism rs5762 - TBXAS1 P24557 VAR_014161 p.Ala429Thr Polymorphism rs4526 - TBXAS1 P24557 VAR_014647 p.Lys257Glu Polymorphism rs5769 - TBXAS1 P24557 VAR_014648 p.Arg260Gly Polymorphism rs5770 - TBXAS1 P24557 VAR_014649 p.Gln316Lys Polymorphism rs5771 - TBXAS1 P24557 VAR_016158 p.Gly389Val Polymorphism rs5760 - TBXAS1 P24557 VAR_018378 p.Val124Ile Polymorphism - - TBXAS1 P24557 VAR_018379 p.Glu388Lys Polymorphism rs3735354 - TBXAS1 P24557 VAR_018380 p.Arg501Gln Polymorphism - - TBXAS1 P24557 VAR_036294 p.Arg85Trp Unclassified - A breast cancer sample TBXAS1 P24557 VAR_044386 p.Leu82Pro Disease - Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] TBXAS1 P24557 VAR_044387 p.Leu357Val Polymorphism rs4529 - TBXAS1 P24557 VAR_044388 p.Arg412Gln Disease - Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] TBXAS1 P24557 VAR_044389 p.Gly481Trp Disease - Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] TBXAS1 P24557 VAR_044390 p.Leu487Pro Disease - Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] TBXAS1 P24557 VAR_044391 p.Leu512Pro Polymorphism rs13306050 - TBXAS1 P24557 VAR_055565 p.Glu387Lys Polymorphism rs3735354 - TBXAS1 P24557 VAR_055566 p.Pro511Leu Polymorphism rs13306050 - TBXAS1 P24557 VAR_058465 p.Leu70Pro Polymorphism rs13306050 - TBXAS1 P24557 VAR_058466 p.Leu70Val Polymorphism rs4529 - TC2N Q8N9U0 VAR_051405 p.Lys151Thr Polymorphism rs2402073 - TC2N Q8N9U0 VAR_051406 p.Ser172Asn Polymorphism rs8020529 - TCAIM Q8N3R3 VAR_050720 p.His4Pro Polymorphism rs35830741 - TCAP O15273 VAR_015397 p.Arg87Gln Disease - Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487] TCAP O15273 VAR_026650 p.Arg70Trp Disease - Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487] TCAP O15273 VAR_026651 p.Pro90Leu Disease - Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487] TCAP O15273 VAR_029445 p.Leu74His Polymorphism rs17851031 - TCAP O15273 VAR_029446 p.Glu132Gln Disease - Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487] TCAP O15273 VAR_029447 p.Thr137Ile Disease - Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] TCAP O15273 VAR_029448 p.Arg153His Disease - Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] TCAP O15273 VAR_051421 p.Arg106Cys Polymorphism rs45578741 - TCEAL1 Q15170 VAR_057270 p.Arg5Cys Polymorphism rs34421776 - TCEAL2 Q9H3H9 VAR_034546 p.Asp19Gly Polymorphism rs34924423 - TCEAL2 Q9H3H9 VAR_034547 p.Gly68Ala Polymorphism rs5944856 - TCEAL3 Q969E4 VAR_059829 p.Gln87Glu Polymorphism rs12009847 - TCEANC Q8N8B7 VAR_028970 p.Ser163Leu Polymorphism rs2361159 - TCEB3B Q8IYF1 VAR_035914 p.Arg498Gln Unclassified - A colorectal cancer sample TCEB3B Q8IYF1 VAR_050965 p.Arg179Pro Polymorphism rs2571028 - TCEB3B Q8IYF1 VAR_050966 p.Cys254Phe Polymorphism rs2010834 - TCEB3B Q8IYF1 VAR_050967 p.Ala403Ser Polymorphism rs892586 - TCEB3B Q8IYF1 VAR_061646 p.Ala446Thr Polymorphism rs3744863 - TCEB3CL2 A6NLF2 VAR_044378 p.Pro375Leu Polymorphism rs2261291 - TCEB3C Q8NG57 VAR_059654 p.Leu375Pro Polymorphism rs2261291 - TCEB3 Q14241 VAR_020104 p.Thr145Met Polymorphism rs2235541 - TCEB3 Q14241 VAR_033850 p.Val324Ile Polymorphism rs520713 - TCEB3 Q14241 VAR_033851 p.Ala516Val Polymorphism rs550252 - TCERG1L Q5VWI1 VAR_037601 p.Pro339Gln Polymorphism rs17857275 - TCERG1L Q5VWI1 VAR_037602 p.Lys437Thr Unclassified - A colorectal cancer sample TCERG1L Q5VWI1 VAR_037603 p.Glu529Lys Polymorphism rs17857276 - TCERG1L Q5VWI1 VAR_037604 p.Gln566Lys Polymorphism rs17854242 - TCF12 Q99081 VAR_049543 p.Gly300Ser Polymorphism rs12442879 - TCF19 Q9Y242 VAR_017741 p.Met211Val Polymorphism rs2073721 - TCF19 Q9Y242 VAR_017742 p.Pro241Leu Polymorphism rs2073724 - TCF19 Q9Y242 VAR_051604 p.Pro109Ser Polymorphism rs7750641 - TCF20 Q9UGU0 VAR_025427 p.Thr485Asn Polymorphism rs6002656 - TCF20 Q9UGU0 VAR_025428 p.Ser722Gly Polymorphism rs5758651 - TCF20 Q9UGU0 VAR_025429 p.Met1165Ile Polymorphism rs17002890 - TCF20 Q9UGU0 VAR_025430 p.Ser1325Asn Polymorphism rs17002888 - TCF20 Q9UGU0 VAR_051419 p.Met405Val Polymorphism rs34030679 - TCF20 Q9UGU0 VAR_051420 p.Tyr1910Cys Polymorphism rs17002865 - TCF23 Q7RTU1 VAR_038325 p.Arg25Gln Polymorphism rs11126879 - TCF23 Q7RTU1 VAR_038326 p.Thr40Ser Polymorphism rs4502371 - TCF3 P15923 VAR_036396 p.Ala8Val Unclassified - A colorectal cancer sample TCF3 P15923 VAR_049552 p.Leu120Pro Polymorphism rs35354874 - TCF3 P15923 VAR_049553 p.Thr198Ala Polymorphism rs11879402 - TCF3 P15923 VAR_049554 p.Gly431Ser Polymorphism rs1052692 - TCF4 P15884 VAR_034704 p.Arg576Gln Disease - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_034705 p.Arg576Trp Disease - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_049545 p.Met450Ile Polymorphism rs11660217 - TCF4 P15884 VAR_058632 p.Asp535Gly Disease - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_058633 p.Arg572Gly Disease - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4 P15884 VAR_058634 p.Ala610Val Disease - Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF7L1 Q9HCS4 VAR_035938 p.Thr147Asn Unclassified - A breast cancer sample TCF7L1 Q9HCS4 VAR_049561 p.Gly533Arg Polymorphism rs11547160 - TCF7L2 Q9NQB0 VAR_035939 p.Arg465Cys Unclassified - A colorectal cancer sample TCF7L2 Q9NQB0 VAR_047126 p.Lys346Asn Polymorphism rs2757884 - TCFL5 Q9UL49 VAR_049555 p.Glu380Asp Polymorphism rs34304654 - TCFL5 Q9UL49 VAR_061263 p.Asn272Asp Polymorphism rs17854409 - TCHHL1 Q5QJ38 VAR_044083 p.Ala193Gly Polymorphism rs16833835 - TCHH Q07283 VAR_047519 p.Leu63Arg Polymorphism rs2515663 - TCHH Q07283 VAR_047520 p.Val237Leu Polymorphism rs3134814 - TCHH Q07283 VAR_047521 p.Arg552Ser Polymorphism rs6680692 - TCHH Q07283 VAR_047522 p.Leu790Met Polymorphism rs11803731 - TCHH Q07283 VAR_047523 p.Leu1258Val Polymorphism rs2496253 - TCHH Q07283 VAR_047524 p.Lys1902Gln Polymorphism rs1131471 - TCHH Q07283 VAR_064757 p.Arg1400Pro Unclassified - - TCHP Q9BT92 VAR_053924 p.Lys127Arg Polymorphism rs10774978 - TCHP Q9BT92 VAR_053925 p.Glu417Lys Polymorphism rs16940680 - TCHP Q9BT92 VAR_064056 p.Ser44Pro Unclassified - A gastric carcinoma sample TCHP Q9BT92 VAR_064057 p.Glu93Lys Unclassified - A pancreatic carcinoma sample TCIRG1 Q13488 VAR_019569 p.Gly405Arg Disease - Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_019570 p.Arg444Leu Disease - Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_020988 p.Ala141Pro Disease - Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_020990 p.Asp517Asn Disease - Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_020991 p.Pro775Arg Disease - Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700] TCIRG1 Q13488 VAR_054340 p.Arg56Trp Polymorphism rs36027301 - TCIRG1 Q13488 VAR_054341 p.Pro161Leu Polymorphism rs34227834 - TCL1A P56279 VAR_053718 p.Val56Ile Polymorphism rs17093294 - TCL1B O95988 VAR_020467 p.Gly93Arg Polymorphism rs1064017 - TCN1 P20061 VAR_031923 p.Arg35His Polymorphism rs34528912 - TCN1 P20061 VAR_031924 p.Asp301Tyr Polymorphism rs34324219 - TCN2 P20062 VAR_001638 p.Met198Thr Polymorphism - - TCN2 P20062 VAR_001639 p.Ile219Leu Polymorphism - - TCN2 P20062 VAR_001640 p.Arg259Pro Polymorphism rs1801198 - TCN2 P20062 VAR_001641 p.Leu376Ser Polymorphism rs1131603 - TCN2 P20062 VAR_054539 p.Ile23Val Polymorphism rs9606756 - TCN2 P20062 VAR_054540 p.Phe89Leu Polymorphism rs35915865 - TCN2 P20062 VAR_054541 p.Arg215Trp Polymorphism rs35838082 - TCN2 P20062 VAR_054542 p.Arg227Gln Polymorphism rs17849434 - TCN2 P20062 VAR_054543 p.Ser348Phe Polymorphism rs9621049 - TCN2 P20062 VAR_054544 p.Arg399Gln Polymorphism rs4820889 - TCOF1 Q13428 VAR_005630 p.Trp53Arg Disease - Treacher Collins syndrome type 1 (TCS1) [MIM:154500] TCOF1 Q13428 VAR_005631 p.Pro516Leu Polymorphism - - TCOF1 Q13428 VAR_005632 p.Val887Ala Polymorphism rs7713638 - TCOF1 Q13428 VAR_005633 p.Ala1390Val Polymorphism rs15251 - TCOF1 Q13428 VAR_005634 p.Asp1432Gly Polymorphism - - TCOF1 Q13428 VAR_029869 p.Ala665Pro Polymorphism rs2071240 - TCOF1 Q13428 VAR_035666 p.Arg1030Lys Unclassified - A colorectal cancer sample TCOF1 Q13428 VAR_057002 p.Ala221Pro Polymorphism rs11541811 - TCOF1 Q13428 VAR_059729 p.Pro1176Arg Polymorphism rs1136103 - TCOF1 Q13428 VAR_059730 p.Gly1280Arg Polymorphism rs11541812 - TCOF1 Q13428 VAR_061709 p.Gly1431Ala Polymorphism rs45491898 - TCP10L Q8TDR4 VAR_016099 p.His145Arg Polymorphism rs9622 - TCP10L Q8TDR4 VAR_049089 p.Arg194His Polymorphism rs16989521 - TCP10 Q12799 VAR_062249 p.Gly45Glu Polymorphism rs17855834 - TCP11L1 Q9NUJ3 VAR_037726 p.His109Gln Polymorphism rs16923785 - TCP11L1 Q9NUJ3 VAR_037727 p.Lys178Arg Polymorphism rs2273549 - TCP11L2 Q8N4U5 VAR_037728 p.Ala41Thr Polymorphism rs4964460 - TCP11L2 Q8N4U5 VAR_037729 p.Ala82Ser Polymorphism rs11837375 - TCP11L2 Q8N4U5 VAR_037730 p.Asp261Asn Polymorphism rs17218950 - TCP11 Q8WWU5 VAR_039692 p.Gly253Ala Polymorphism rs2234045 - TCP11 Q8WWU5 VAR_039693 p.Arg429Gln Polymorphism rs2234051 - TCP1 P17987 VAR_036258 p.Val7Leu Unclassified - A breast cancer sample TCTE1 Q5JU00 VAR_040073 p.Pro35Leu Polymorphism rs324146 - TCTE1 Q5JU00 VAR_040074 p.His53Arg Polymorphism rs17853373 - TCTE1 Q5JU00 VAR_040075 p.Phe261Ser Polymorphism rs2297336 - TCTE3 Q8IZS6 VAR_042499 p.Ile67Val Polymorphism - - TCTE3 Q8IZS6 VAR_042500 p.Arg88Ile Polymorphism rs2027063 - TCTE3 Q8IZS6 VAR_042501 p.Val121Ala Polymorphism rs13194101 - TCTEX1D1 Q8N7M0 VAR_031852 p.Glu49Asp Polymorphism rs1060575 - TCTEX1D1 Q8N7M0 VAR_055700 p.Leu143Ile Polymorphism rs2133173 - TDGF1 P13385 VAR_021903 p.Tyr43Asp Polymorphism rs2293025 - TDGF1 P13385 VAR_024262 p.Val22Ala Polymorphism rs11130097 - TDGF1 P13385 VAR_048975 p.Arg111Gly Polymorphism rs34501971 - TDG Q13569 VAR_018892 p.Gly199Ser Polymorphism rs4135113 - TDG Q13569 VAR_018893 p.Val367Met Polymorphism rs2888805 - TDG Q13569 VAR_050140 p.Gly381Glu Polymorphism rs3953597 - TDG Q13569 VAR_059450 p.Val367Leu Polymorphism rs2888805 - TDP1 Q9NUW8 VAR_017144 p.His493Arg Disease - Spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1) [MIM:607250] TDP1 Q9NUW8 VAR_017145 p.Pro566Leu Unclassified - - TDP1 Q9NUW8 VAR_025817 p.Glu95Asp Polymorphism rs35114462 - TDP1 Q9NUW8 VAR_025818 p.Pro101Leu Polymorphism rs35455108 - TDP1 Q9NUW8 VAR_025819 p.Ala134Thr Polymorphism rs28365054 - TDP1 Q9NUW8 VAR_025820 p.Asp187Gly Polymorphism rs35271143 - TDP1 Q9NUW8 VAR_025821 p.Arg304Gln Polymorphism rs34452707 - TDP1 Q9NUW8 VAR_025822 p.Thr569Ala Polymorphism rs35973343 - TDP2 O95551 VAR_022634 p.Gln249Glu Polymorphism rs2294689 - TDP2 O95551 VAR_022635 p.Arg268Gln Polymorphism rs17249952 - TDP2 O95551 VAR_051464 p.Ser166Gly Polymorphism rs35977478 - TDRD10 Q5VZ19 VAR_029817 p.Arg181Gln Polymorphism rs12750774 - TDRD10 Q5VZ19 VAR_029818 p.Val215Ile Polymorphism rs3811448 - TDRD1 Q9BXT4 VAR_057321 p.Val864Leu Polymorphism rs7914059 - TDRD1 Q9BXT4 VAR_057322 p.Tyr1138Cys Polymorphism rs34112549 - TDRD5 Q8NAT2 VAR_031209 p.Met104Thr Polymorphism rs12066948 - TDRD5 Q8NAT2 VAR_031210 p.Lys358Glu Polymorphism rs6704505 - TDRD5 Q8NAT2 VAR_036706 p.Glu722Lys Polymorphism rs35448215 - TDRD5 Q8NAT2 VAR_052422 p.Phe239Val Polymorphism rs12069976 - TDRD6 O60522 VAR_029050 p.Arg192Gln Polymorphism rs7750596 - TDRD6 O60522 VAR_029051 p.Thr398Ala Polymorphism rs3799277 - TDRD6 O60522 VAR_029052 p.Gln1014Glu Polymorphism rs9381472 - TDRD6 O60522 VAR_052423 p.Ile795Met Polymorphism rs9463234 - TDRD7 Q8NHU6 VAR_019070 p.Val150Ala Polymorphism rs2045732 - TDRD7 Q8NHU6 VAR_033044 p.Pro456Leu Polymorphism rs17852595 - TDRKH Q9Y2W6 VAR_055980 p.Gly257Ala Polymorphism rs17853082 - TEAD1 P28347 VAR_031530 p.Tyr421His Disease rs11567847 Sveinsson chorioretinal atrophy (SCRA) [MIM:108985] TEAD3 Q99594 VAR_052278 p.Thr254Met Polymorphism rs35080860 - TEAD4 Q15561 VAR_052279 p.Pro323Ser Polymorphism rs11550887 - TEC P42680 VAR_041850 p.Arg44Gln Polymorphism rs35374286 - TEC P42680 VAR_041851 p.Arg563Lys Unclassified - A lung adenocarcinoma sample TECPR1 Q7Z6L1 VAR_060190 p.Ser733Tyr Polymorphism rs35623371 - TECPR1 Q7Z6L1 VAR_062238 p.Pro944Leu Polymorphism rs11762014 - TECPR2 O15040 VAR_046529 p.Val320Ile Polymorphism rs1309353 - TECPR2 O15040 VAR_046530 p.Ala386Thr Polymorphism rs11845676 - TECPR2 O15040 VAR_046531 p.Pro439Ser Polymorphism rs2273906 - TECPR2 O15040 VAR_046532 p.Ile683Val Polymorphism rs10149146 - TECTA O75443 VAR_018968 p.Arg371Gly Polymorphism rs612969 - TECTA O75443 VAR_018969 p.Val932Ala Polymorphism rs520805 - TECTA O75443 VAR_018970 p.Cys1057Ser Disease - Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018971 p.Cys1619Ser Disease rs28939691 Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018972 p.Ser1724Asn Polymorphism rs526433 - TECTA O75443 VAR_018973 p.Leu1820Phe Disease - Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018974 p.Gly1824Asp Disease - Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018975 p.Cys1837Gly Disease - Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018976 p.Tyr1870Cys Disease rs28939690 Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018977 p.Arg2021His Disease - Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] TECTA O75443 VAR_018978 p.Ser2100Thr Polymorphism - - TECTA O75443 VAR_036423 p.Arg284His Unclassified - A breast cancer sample TECTA O75443 VAR_036424 p.Ile771Asn Unclassified - A breast cancer sample TECTA O75443 VAR_036425 p.Asn813Thr Unclassified - A breast cancer sample TECTA O75443 VAR_057500 p.Gln19Arg Polymorphism rs35507522 - TECTA O75443 VAR_057501 p.Ser1584Thr Polymorphism rs34963131 - TECTA O75443 VAR_059965 p.Ser1878Arg Polymorphism rs2155369 - TEDDM1 Q5T9Z0 VAR_035356 p.Tyr130His Polymorphism rs6674281 - TEFM Q96QE5 VAR_045689 p.Ile348Val Polymorphism rs2433 - TEK Q02763 VAR_006352 p.Arg849Trp Disease - Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_008716 p.Tyr897Ser Disease - Dominantly inherited venous malformations (VMCM) [MIM:600195] TEK Q02763 VAR_024578 p.Val486Ile Polymorphism rs1334811 - TEK Q02763 VAR_035714 p.Lys117Asn Unclassified - Breast cancer samples TEK Q02763 VAR_041855 p.Ile148Thr Polymorphism rs35969327 - TEK Q02763 VAR_041856 p.Ala226Val Polymorphism rs35814893 - TEK Q02763 VAR_041857 p.Val600Leu Polymorphism rs35030851 - TEK Q02763 VAR_041858 p.Leu634Phe Polymorphism rs35378598 - TEK Q02763 VAR_041859 p.Val676Ile Polymorphism rs56367117 - TEK Q02763 VAR_041860 p.Ala724Thr Polymorphism rs4631561 - TEK Q02763 VAR_041861 p.Pro883Ala Unclassified - An ovarian serous carcinoma sample TEK Q02763 VAR_041862 p.Ala1124Val Unclassified - A renal clear cell carcinoma sample TEK Q02763 VAR_048002 p.Gln346Pro Polymorphism rs682632 - TEK Q02763 VAR_048003 p.Thr391Ile Polymorphism rs34032300 - TEKT1 Q969V4 VAR_022150 p.Arg254Cys Polymorphism rs3744395 - TEKT1 Q969V4 VAR_022151 p.Val332Ile Polymorphism rs2271233 - TEKT1 Q969V4 VAR_034548 p.Ile146Val Polymorphism rs34431552 - TEKT2 Q9UIF3 VAR_034549 p.Arg46Cys Polymorphism rs12043423 - TEKT2 Q9UIF3 VAR_053720 p.Ile114Thr Polymorphism rs419653 - TEKT3 Q9BXF9 VAR_024658 p.Gly282Ala Polymorphism rs230898 - TEKT3 Q9BXF9 VAR_024659 p.Val296Ala Polymorphism rs6502446 - TEKT3 Q9BXF9 VAR_034550 p.Glu410Asp Polymorphism rs35855709 - TEKT3 Q9BXF9 VAR_053721 p.Arg3His Polymorphism rs7226363 - TEKT4 Q8WW24 VAR_029085 p.Thr83Met Polymorphism rs4854235 - TEKT4 Q8WW24 VAR_029086 p.Lys102Asn Polymorphism rs17802433 - TEKT4 Q8WW24 VAR_029087 p.Asn409Lys Polymorphism rs17120062 - TEKT4 Q8WW24 VAR_035941 p.Cys272Ser Unclassified - A breast cancer sample TEKT4 Q8WW24 VAR_062151 p.Ser100Gly Polymorphism rs11164112 - TEKT5 Q96M29 VAR_053722 p.Ala59Thr Polymorphism rs16957557 - TEKT5 Q96M29 VAR_053723 p.His196Arg Polymorphism rs16957546 - TEKT5 Q96M29 VAR_053724 p.Met239Thr Polymorphism rs17684500 - TEKT5 Q96M29 VAR_053725 p.Gln315Arg Polymorphism rs2719710 - TELO2 Q9Y4R8 VAR_038752 p.Glu7Gly Polymorphism rs2667661 - TELO2 Q9Y4R8 VAR_038753 p.Gln146Arg Polymorphism rs2235624 - TELO2 Q9Y4R8 VAR_038754 p.Gln674Arg Polymorphism rs2248128 - TELO2 Q9Y4R8 VAR_061839 p.Glu7Gln Polymorphism rs2667660 - TELO2 Q9Y4R8 VAR_061840 p.Ala511Val Polymorphism rs58099766 - TENC1 Q63HR2 VAR_033043 p.Ser353Thr Polymorphism rs11170389 - TENC1 Q63HR2 VAR_052547 p.Ala670Thr Polymorphism rs11558984 - TENM1 Q9UKZ4 VAR_036596 p.Leu342Phe Unclassified - A breast cancer sample TENM1 Q9UKZ4 VAR_036597 p.Val1216Ile Unclassified - A breast cancer sample TENM1 Q9UKZ4 VAR_036598 p.Phe1482Val Unclassified - A colorectal cancer sample TENM1 Q9UKZ4 VAR_036599 p.Gln2235His Unclassified - A breast cancer sample TENM1 Q9UKZ4 VAR_036600 p.Leu2396Phe Unclassified - A colorectal cancer sample TENM1 Q9UKZ4 VAR_053792 p.Tyr40His Polymorphism rs36065191 - TENM1 Q9UKZ4 VAR_053793 p.Met371Thr Polymorphism rs2213591 - TENM1 Q9UKZ4 VAR_053794 p.Met632Val Polymorphism rs16999334 - TENM1 Q9UKZ4 VAR_053795 p.Lys641Glu Polymorphism rs6649271 - TENM2 Q9NT68 VAR_028946 p.Val1719Phe Polymorphism rs11957063 - TENM2 Q9NT68 VAR_060129 p.Asn728Ser Polymorphism rs6862925 - TENM3 Q9P273 VAR_053796 p.Ser385Cys Polymorphism rs3749509 - TENM4 Q6N022 VAR_060130 p.Val396Ile Polymorphism rs3812723 - TENM4 Q6N022 VAR_060131 p.Glu506Gln Polymorphism rs17137261 - TENM4 Q6N022 VAR_062167 p.Arg14Gln Polymorphism rs58537389 - TEP1 Q99973 VAR_018490 p.Ser116Pro Polymorphism rs1760897 - TEP1 Q99973 VAR_018491 p.Asn307Lys Polymorphism rs1760898 - TEP1 Q99973 VAR_018492 p.Arg1055Cys Polymorphism rs1760903 - TEP1 Q99973 VAR_018493 p.Ser1195Pro Polymorphism rs1760904 - TEP1 Q99973 VAR_018494 p.Ser1447Thr Polymorphism rs1713457 - TEP1 Q99973 VAR_018495 p.Cys1468Tyr Polymorphism rs1713456 - TEP1 Q99973 VAR_018496 p.Val2214Ile Polymorphism rs1713449 - TEP1 Q99973 VAR_018497 p.Ile2486Met Polymorphism rs938886 - TEP1 Q99973 VAR_018498 p.His2562Arg Polymorphism rs2104978 - TEP1 Q99973 VAR_047631 p.Thr137Met Polymorphism rs10083536 - TEP1 Q99973 VAR_047632 p.Lys368Arg Polymorphism rs2228035 - TEP1 Q99973 VAR_047633 p.Lys434Asn Polymorphism rs17111188 - TEP1 Q99973 VAR_047634 p.Ser510Leu Polymorphism rs4982051 - TEP1 Q99973 VAR_047635 p.Ala553Gly Polymorphism rs2228040 - TEP1 Q99973 VAR_047636 p.Arg933His Polymorphism rs34179031 - TEP1 Q99973 VAR_047637 p.Arg1155Gln Polymorphism rs2228041 - TEP1 Q99973 VAR_047638 p.Arg1351Gln Polymorphism rs12886088 - TEP1 Q99973 VAR_047639 p.Gly1408Arg Polymorphism rs2229100 - TEP1 Q99973 VAR_047640 p.Arg1661Gln Polymorphism rs34401320 - TEP1 Q99973 VAR_047641 p.Arg1772Gln Polymorphism rs8022805 - TEP1 Q99973 VAR_047642 p.Ala2310Ser Polymorphism rs35929175 - TEPP Q6URK8 VAR_060223 p.Ser260Asn Polymorphism rs9934227 - TERF2IP Q9NYB0 VAR_050195 p.Lys324Glu Polymorphism rs4888444 - TERF2 Q15554 VAR_050196 p.Ser413Gly Polymorphism rs35874485 - TERT O14746 VAR_025149 p.His412Tyr Disease rs34094720 Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989] TERT O14746 VAR_025149 p.His412Tyr Disease rs34094720 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, type 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_025150 p.Ala1062Thr Polymorphism rs35719940 - TERT O14746 VAR_036863 p.Ala202Thr Disease - Pulmonary fibrosis, and/or bone marrow failure, telomere-related, type 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_036864 p.Ala279Thr Polymorphism - - TERT O14746 VAR_036866 p.Val694Met Disease - Pulmonary fibrosis, and/or bone marrow failure, telomere-related, type 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_036867 p.Tyr772Cys Disease - Pulmonary fibrosis, and/or bone marrow failure, telomere-related, type 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_036868 p.Arg865His Disease - Pulmonary fibrosis, and/or bone marrow failure, telomere-related, type 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_036869 p.Lys902Asn Disease - Dyskeratosis congenita autosomal dominant type 2 (DKCA2) [MIM:613989] TERT O14746 VAR_036870 p.Val1090Met Disease - Pulmonary fibrosis, and/or bone marrow failure, telomere-related, type 1 (PFBMFT1) [MIM:614742] TERT O14746 VAR_053726 p.Ser948Arg Polymorphism rs34062885 - TERT O14746 VAR_062535 p.Leu55Gln Unclassified - - TERT O14746 VAR_062536 p.Lys570Asn Unclassified - - TERT O14746 VAR_062537 p.Gly682Asp Unclassified - - TERT O14746 VAR_062538 p.Pro721Arg Disease - Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989] TERT O14746 VAR_062539 p.Thr726Met Unclassified - - TERT O14746 VAR_062540 p.Arg811Cys Disease - Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989] TERT O14746 VAR_062541 p.Arg901Trp Disease - Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989] TERT O14746 VAR_062542 p.Arg979Trp Disease - Dyskeratosis congenita autosomal dominant type 2 (DKCA2) [MIM:613989] TERT O14746 VAR_062543 p.Thr1110Met Unclassified - - TERT O14746 VAR_062544 p.Phe1127Leu Disease - Dyskeratosis congenita autosomal dominant type 2 (DKCA2) [MIM:613989] TERT O14746 VAR_062780 p.Pro65Ala Unclassified - - TERT O14746 VAR_062781 p.Val299Met Unclassified - - TERT O14746 VAR_062782 p.Arg522Lys Unclassified - - TERT O14746 VAR_062783 p.Arg631Gln Unclassified - - TERT O14746 VAR_062784 p.Pro785Leu Unclassified - - TESK1 Q15569 VAR_035638 p.His539Tyr Unclassified - Breast cancer samples TESK1 Q15569 VAR_041213 p.Gly574Ser Polymorphism rs55673450 - TESK2 Q96S53 VAR_041214 p.Gly11Ala Unclassified - A breast infiltrating ductal carcinoma sample TESPA1 A2RU30 VAR_049513 p.Glu496Lys Polymorphism rs997173 - TES Q9UGI8 VAR_050170 p.Ala221Val Polymorphism rs2272193 - TET1 Q8NFU7 VAR_027734 p.Asp162Gly Polymorphism rs10823229 - TET1 Q8NFU7 VAR_027735 p.Ser193Thr Polymorphism rs12773594 - TET1 Q8NFU7 VAR_027736 p.Ala256Val Polymorphism rs12221107 - TET1 Q8NFU7 VAR_027737 p.Asn1018Ser Polymorphism rs16925541 - TET1 Q8NFU7 VAR_027738 p.Ile1123Met Polymorphism rs3998860 - TET2 Q6N021 VAR_039841 p.Pro29Arg Polymorphism rs12498609 - TET2 Q6N021 VAR_039842 p.Val218Met Polymorphism rs6843141 - TET2 Q6N021 VAR_039843 p.Pro363Leu Polymorphism rs17253672 - TET2 Q6N021 VAR_039844 p.Ala912Gly Polymorphism rs4145756 - TET2 Q6N021 VAR_058130 p.Arg123His Polymorphism - - TET2 Q6N021 VAR_058131 p.Ala308Thr Unclassified - Chronic myelomonocytic leukemia TET2 Q6N021 VAR_058132 p.Gly355Asp Polymorphism - - TET2 Q6N021 VAR_058133 p.Pro399Leu Unclassified - - TET2 Q6N021 VAR_058134 p.Gly429Arg Polymorphism - - TET2 Q6N021 VAR_058135 p.Ser817Thr Unclassified - - TET2 Q6N021 VAR_058136 p.His924Arg Polymorphism rs34485921 - TET2 Q6N021 VAR_058137 p.His949Arg Polymorphism - - TET2 Q6N021 VAR_058138 p.Arg1167Thr Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058139 p.Ile1175Val Unclassified - - TET2 Q6N021 VAR_058141 p.Arg1261Leu Unclassified - - TET2 Q6N021 VAR_058143 p.Phe1287Leu Unclassified - - TET2 Q6N021 VAR_058144 p.Trp1291Arg Unclassified - - TET2 Q6N021 VAR_058145 p.Lys1299Glu Unclassified - - TET2 Q6N021 VAR_058146 p.Lys1299Asn Unclassified - Chronic myelomonocytic leukemia samples TET2 Q6N021 VAR_058147 p.Arg1302Gly Unclassified - Chronic myelomonocytic leukemia samples TET2 Q6N021 VAR_058148 p.Glu1318Gly Unclassified - Chronic myelomonocytic leukemia samples TET2 Q6N021 VAR_058149 p.Pro1367Ser Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058150 p.Cys1396Trp Unclassified - - TET2 Q6N021 VAR_058151 p.Leu1398Arg Unclassified - - TET2 Q6N021 VAR_058152 p.His1757Asp Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058153 p.Cys1811Arg Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058154 p.Gln1828Leu Unclassified - - TET2 Q6N021 VAR_058155 p.Gly1869Trp Unclassified - - TET2 Q6N021 VAR_058156 p.Leu1872Pro Unclassified - - TET2 Q6N021 VAR_058157 p.Ile1873Thr Unclassified - Chronic myelomonocytic leukemia TET2 Q6N021 VAR_058158 p.His1881Arg Unclassified - - TET2 Q6N021 VAR_058159 p.Arg1896Met Unclassified - A primary acute myeloid leukemia sample TET2 Q6N021 VAR_058160 p.Ser1898Phe Unclassified - A secondary acute myeloid leukemia sample TET2 Q6N021 VAR_058161 p.Val1900Ala Polymorphism - - TET2 Q6N021 VAR_058163 p.Gly1913Asp Unclassified - - TET2 Q6N021 VAR_058164 p.Ala1919Val Unclassified - - TET2 Q6N021 VAR_058165 p.Arg1926His Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058166 p.Pro1941Ser Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058167 p.Pro1962Leu Unclassified - - TET2 Q6N021 VAR_058168 p.Arg1966His Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058169 p.Arg1974Met Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058170 p.Arg2000Lys Polymorphism - - TET2 Q6N021 VAR_058171 p.Leu34Phe Polymorphism - - TET2 Q6N021 VAR_058172 p.Ser145Asn Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058173 p.Pro174His Polymorphism - - TET2 Q6N021 VAR_058174 p.Asn312Ser Unclassified - An acute myeloid leukemia sample TET2 Q6N021 VAR_058175 p.Ser460Phe Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058176 p.Asp666Gly Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058177 p.Tyr867His Polymorphism - - TET2 Q6N021 VAR_058178 p.Pro941Ser Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058179 p.Glu1073Val Polymorphism - - TET2 Q6N021 VAR_058180 p.Gln1084Pro Polymorphism - - TET2 Q6N021 VAR_058181 p.Cys1135Tyr Unclassified - - TET2 Q6N021 VAR_058182 p.Ser1204Cys Unclassified - - TET2 Q6N021 VAR_058183 p.Arg1214Trp Unclassified - - TET2 Q6N021 VAR_058184 p.Asp1242Val Unclassified - - TET2 Q6N021 VAR_058185 p.Tyr1245Ser Unclassified - - TET2 Q6N021 VAR_058186 p.Arg1261Cys Unclassified - - TET2 Q6N021 VAR_058187 p.Arg1261His Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058188 p.Val1417Phe Unclassified - A chronic myelomonocytic leukemia sample TET2 Q6N021 VAR_058189 p.Met1701Ile Polymorphism - - TET2 Q6N021 VAR_058190 p.Val1718Leu Unclassified - - TET2 Q6N021 VAR_058191 p.Leu1721Trp Polymorphism rs34402524 - TET2 Q6N021 VAR_058192 p.Pro1723Ser Polymorphism - - TET2 Q6N021 VAR_058193 p.Ile1762Val Polymorphism rs2454206 - TET2 Q6N021 VAR_058194 p.His1778Arg Polymorphism - - TET2 Q6N021 VAR_058195 p.Cys1875Arg Unclassified - - TET2 Q6N021 VAR_058196 p.His1881Gln Unclassified - - TET2 Q6N021 VAR_058197 p.Arg1896Ser Unclassified - - TET2 Q6N021 VAR_058198 p.Asp1242Arg Polymorphism - - TET3 O43151 VAR_062235 p.Arg577Gln Polymorphism rs57955681 - TEX101 Q9BY14 VAR_059883 p.Gly99Val Polymorphism rs35033974 - TEX11 Q8IYF3 VAR_034635 p.Lys130Arg Polymorphism rs6525433 - TEX11 Q8IYF3 VAR_034636 p.Glu451Lys Polymorphism rs4844247 - TEX14 Q8IWB6 VAR_041388 p.Asp88Gly Polymorphism rs56292204 - TEX14 Q8IWB6 VAR_041389 p.Lys321Glu Unclassified - A gastric adenocarcinoma sample TEX14 Q8IWB6 VAR_041390 p.Ser443Cys Polymorphism - - TEX14 Q8IWB6 VAR_041391 p.Ile559Met Polymorphism - - TEX15 Q9BXT5 VAR_060394 p.Cys104Arg Polymorphism rs323347 - TEX15 Q9BXT5 VAR_060395 p.Pro383Leu Polymorphism rs9297162 - TEX15 Q9BXT5 VAR_060396 p.Ile1035Val Polymorphism rs323346 - TEX15 Q9BXT5 VAR_060397 p.Asn1311Ser Polymorphism rs323345 - TEX15 Q9BXT5 VAR_060398 p.Leu1337Val Polymorphism rs323344 - TEX15 Q9BXT5 VAR_060399 p.Lys1439Arg Polymorphism rs323343 - TEX15 Q9BXT5 VAR_061711 p.Asp2138Asn Polymorphism rs60474250 - TEX264 Q9Y6I9 VAR_061718 p.Gly292Glu Polymorphism rs11553574 - TEX26 Q8N6G2 VAR_029615 p.Lys231Asn Polymorphism rs9533168 - TEX2 Q8IWB9 VAR_061712 p.Thr158Ile Polymorphism rs28605685 - Tex35 Q5T0J7 VAR_027656 p.Glu55Gly Polymorphism rs16852957 - Tex35 Q5T0J7 VAR_027657 p.Ala146Gly Polymorphism rs12079481 - Tex35 Q5T0J7 VAR_027658 p.Leu171Arg Polymorphism rs3813636 - Tex35 Q5T0J7 VAR_059592 p.Leu171Pro Polymorphism rs3813636 - TEX36 Q5VZQ5 VAR_059615 p.Glu38Gln Polymorphism rs9422915 - TEX37 Q96LM6 VAR_035142 p.Asp24Asn Polymorphism rs35750657 - TEX38 Q6PEX7 VAR_039405 p.Asp104Glu Polymorphism rs614486 - TEX38 Q6PEX7 VAR_039406 p.Ala199Val Polymorphism rs1025806 - TEX40 Q9NTU4 VAR_046370 p.Pro68Leu Polymorphism rs2286614 - TFAM Q00059 VAR_016124 p.Ser12Thr Polymorphism rs1937 - TFAP2A P05549 VAR_045838 p.Leu249Pro Disease - Branchiooculofacial syndrome (BOFS) [MIM:113620] TFAP2A P05549 VAR_045839 p.Arg254Gly Disease - Branchiooculofacial syndrome (BOFS) [MIM:113620] TFAP2A P05549 VAR_045840 p.Arg255Gly Disease - Branchiooculofacial syndrome (BOFS) [MIM:113620] TFAP2A P05549 VAR_045841 p.Gly262Glu Disease - Branchiooculofacial syndrome (BOFS) [MIM:113620] TFAP2B Q92481 VAR_011318 p.Ala275Asp Disease - Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_011319 p.Arg300Cys Disease - Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_016977 p.Pro73Arg Disease - Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_016978 p.Arg236Cys Disease - Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_016979 p.Arg236Ser Disease - Char syndrome (CHAR) [MIM:169100] TFAP2B Q92481 VAR_016980 p.Arg285Gln Disease - Char syndrome (CHAR) [MIM:169100] TFAP2D Q7Z6R9 VAR_036975 p.Val214Phe Unclassified - A breast cancer sample TFAP4 Q01664 VAR_059346 p.Gln218His Polymorphism rs251732 - TFB2M Q9H5Q4 VAR_030097 p.Pro156Leu Polymorphism rs11585481 - TFB2M Q9H5Q4 VAR_030098 p.His264Tyr Polymorphism rs12037377 - TFDP1 Q14186 VAR_029293 p.Asp401Asn Polymorphism rs4150823 - TFDP2 Q14188 VAR_002272 p.Ile64Thr Polymorphism - - TFDP2 Q14188 VAR_020567 p.Pro81Ser Polymorphism rs11569200 - TFE3 P19532 VAR_027501 p.Ser96Cys Polymorphism rs5953258 - TFE3 P19532 VAR_027502 p.Thr313Ala Polymorphism rs3027470 - TFEC O14948 VAR_037661 p.Gln6His Polymorphism rs35695387 - TFEC O14948 VAR_037662 p.Gly100Ser Polymorphism rs35170691 - TFEC O14948 VAR_037663 p.Leu146Val Unclassified - A colorectal cancer sample TFF1 P04155 VAR_015281 p.Thr32Ile Unclassified - A gastric carcinoma sample TFF1 P04155 VAR_015282 p.Thr32Lys Unclassified - A gastric carcinoma sample TFF1 P04155 VAR_015283 p.Ala34Asp Unclassified - A gastric carcinoma sample TFF1 P04155 VAR_015284 p.Glu37Lys Unclassified - A gastric carcinoma sample TFF1 P04155 VAR_015285 p.Val46Ile Unclassified - - TFF1 P04155 VAR_015286 p.Gly55Val Unclassified - A gastric carcinoma sample TFF1 P04155 VAR_053563 p.Thr22Ile Polymorphism rs34795821 - TFF2 Q03403 VAR_053564 p.Arg3Trp Polymorphism rs7277409 - TFG Q92734 VAR_035668 p.Ala149Ser Unclassified - A colorectal cancer sample TFG Q92734 VAR_054322 p.Ala211Val Polymorphism rs430945 - TFG Q92734 VAR_054323 p.Thr364Pro Polymorphism rs6772054 - TFG Q92734 VAR_059731 p.Val43Phe Polymorphism rs15245 - TFIP11 Q9UBB9 VAR_054069 p.Asn177Ser Polymorphism rs6005062 - TF P02787 VAR_007544 p.Asp296Gly Polymorphism rs8177238 - TF P02787 VAR_007545 p.His319Arg Polymorphism - - TF P02787 VAR_011997 p.Gly142Ser Polymorphism rs1799830 - TF P02787 VAR_011998 p.Gly277Ser Polymorphism rs1799899 - TF P02787 VAR_011999 p.Trp377Cys Polymorphism rs1804498 - TF P02787 VAR_012000 p.Pro589Ser Polymorphism rs1049296 - TF P02787 VAR_012001 p.Thr645Pro Polymorphism rs1130537 - TF P02787 VAR_012997 p.Ala477Pro Disease - Atransferrinemia (ATRAF) [MIM:209300] TF P02787 VAR_012998 p.Lys646Glu Polymorphism - - TF P02787 VAR_012999 p.Gly671Glu Polymorphism - - TF P02787 VAR_029280 p.Ser55Arg Polymorphism rs8177318 - TF P02787 VAR_034569 p.Arg42Leu Polymorphism rs41298293 - TF P02787 VAR_034570 p.Ala76Val Polymorphism rs41298977 - TF P02787 VAR_034571 p.Gly562Val Polymorphism rs41296590 - TF P02787 VAR_038810 p.Asp77Asn Disease - Atransferrinemia (ATRAF) [MIM:209300] TF P02787 VAR_058199 p.Ile448Val Polymorphism rs2692696 - TFPI2 P48307 VAR_012005 p.Val102Ala Polymorphism rs1804202 - TFPI2 P48307 VAR_050064 p.Arg231Gln Polymorphism rs12669450 - TFPI P10646 VAR_012004 p.Val292Met Polymorphism rs5940 - TFR2 Q9UP52 VAR_012738 p.Met172Lys Disease - Hemochromatosis type 3 (HFE3) [MIM:604250] TFR2 Q9UP52 VAR_034122 p.Asp230Glu Polymorphism rs41303465 - TFR2 Q9UP52 VAR_034123 p.Ile238Met Polymorphism rs34242818 - TFR2 Q9UP52 VAR_034124 p.Arg752His Polymorphism rs41295942 - TFR2 Q9UP52 VAR_042515 p.Val22Ile Disease - Hemochromatosis type 3 (HFE3) [MIM:604250] TFR2 Q9UP52 VAR_042516 p.Arg455Gln Polymorphism rs41303501 - TFR2 Q9UP52 VAR_042517 p.Gln690Pro Disease - Hemochromatosis type 3 (HFE3) [MIM:604250] TFRC P02786 VAR_012737 p.Gly142Ser Polymorphism rs3817672 - TFRC P02786 VAR_051806 p.Leu212Val Polymorphism rs41301381 - TFRC P02786 VAR_051807 p.Gly420Ser Polymorphism rs41295879 - TFRC P02786 VAR_051808 p.Arg677His Polymorphism rs41298067 - TGDS O95455 VAR_049122 p.Gly15Ser Polymorphism rs34991132 - TGFA P01135 VAR_024271 p.Val109Met Polymorphism rs11466259 - TGFB1I1 O43294 VAR_032831 p.Gln129His Polymorphism rs45475699 - TGFB1 P01137 VAR_016171 p.Leu10Pro Polymorphism rs1800470 - TGFB1 P01137 VAR_016172 p.Arg25Pro Polymorphism rs1800471 - TGFB1 P01137 VAR_016173 p.Thr263Ile Polymorphism rs1800472 - TGFB1 P01137 VAR_017607 p.Tyr81His Disease - Camurati-Engelmann disease (CE) [MIM:131300] TGFB1 P01137 VAR_017608 p.Arg218Cys Disease - Camurati-Engelmann disease (CE) [MIM:131300] TGFB1 P01137 VAR_017609 p.Arg218His Disease - Camurati-Engelmann disease (CE) [MIM:131300] TGFB1 P01137 VAR_017610 p.His222Asp Disease - Camurati-Engelmann disease (CE) [MIM:131300] TGFB1 P01137 VAR_017611 p.Cys225Arg Disease - Camurati-Engelmann disease (CE) [MIM:131300] TGFB2 P61812 VAR_012708 p.Arg91His Polymorphism rs10482721 - TGFB2 P61812 VAR_018923 p.Val207Leu Polymorphism rs10482810 - TGFB3 P10600 VAR_016315 p.Thr60Met Polymorphism rs4252315 - TGFBI Q15582 VAR_005076 p.Arg124Cys Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_005077 p.Arg124His Disease - Corneal dystrophy, Avellino type (CDA) [MIM:607541] TGFBI Q15582 VAR_005078 p.Arg124Leu Disease - Reis-Buecklers corneal dystrophy (CDRB) [MIM:608470] TGFBI Q15582 VAR_005079 p.Pro501Thr Disease - Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471] TGFBI Q15582 VAR_005080 p.Leu527Arg Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_005082 p.Arg555Gln Disease - Corneal dystrophy Thiel-Behnke type (CDTB) [MIM:602082] TGFBI Q15582 VAR_005083 p.Arg555Trp Disease - Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900] TGFBI Q15582 VAR_012444 p.Arg124Ser Disease - Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900] TGFBI Q15582 VAR_012446 p.Leu518Pro Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_012447 p.Asn544Ser Unclassified - - TGFBI Q15582 VAR_012448 p.Ala546Thr Disease - Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471] TGFBI Q15582 VAR_012449 p.Asn622His Unclassified - - TGFBI Q15582 VAR_012450 p.His626Arg Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_014335 p.Ile200Phe Polymorphism rs45455404 - TGFBI Q15582 VAR_018484 p.Leu518Arg Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_018485 p.Thr538Arg Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_018486 p.Asn622Lys Disease - Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471] TGFBI Q15582 VAR_018487 p.Gly623Asp Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_018488 p.His626Pro Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_018489 p.Val631Asp Unclassified - - TGFBI Q15582 VAR_031531 p.Val113Ile Unclassified - - TGFBI Q15582 VAR_031532 p.Asp123His Unclassified - - TGFBI Q15582 VAR_031533 p.Leu269Phe Polymorphism - - TGFBI Q15582 VAR_031534 p.Arg496Gly Polymorphism rs10057190 - TGFBI Q15582 VAR_031535 p.Val505Asp Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031536 p.Leu509Arg Disease - Epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820] TGFBI Q15582 VAR_031537 p.Val539Asp Unclassified - - TGFBI Q15582 VAR_031538 p.Phe540Ser Disease - Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471] TGFBI Q15582 VAR_031539 p.Ala546Asp Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031540 p.Pro551Gln Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031541 p.Leu569Arg Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031543 p.His572Arg Disease - Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] TGFBI Q15582 VAR_031544 p.Gly594Val Unclassified - - TGFBI Q15582 VAR_031546 p.Arg666Ser Disease - Epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820] TGFBR1 P36897 VAR_022344 p.Thr200Ile Disease - Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] TGFBR1 P36897 VAR_022345 p.Met318Arg Disease - Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] TGFBR1 P36897 VAR_022346 p.Asp400Gly Disease - Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] TGFBR1 P36897 VAR_022347 p.Arg487Pro Disease - Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] TGFBR1 P36897 VAR_022347 p.Arg487Pro Disease - Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967] TGFBR1 P36897 VAR_029481 p.Lys232Glu Disease - Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967] TGFBR1 P36897 VAR_029482 p.Ser241Leu Disease - Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] TGFBR1 P36897 VAR_029483 p.Asn267His Unclassified - - TGFBR1 P36897 VAR_029484 p.Arg487Gln Disease - Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] TGFBR1 P36897 VAR_029484 p.Arg487Gln Disease - Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967] TGFBR1 P36897 VAR_029485 p.Arg487Trp Disease - Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967] TGFBR1 P36897 VAR_041412 p.Val153Ile Polymorphism rs56014374 - TGFBR1 P36897 VAR_041413 p.Tyr291Cys Polymorphism rs35974499 - TGFBR1 P36897 VAR_054160 p.Ile139Val Polymorphism - - TGFBR2 P37173 VAR_008156 p.Thr315Met Disease rs34833812 Hereditary non-polyposis colorectal cancer type 6 (HNPCC6) [MIM:614331] TGFBR2 P37173 VAR_015816 p.Glu526Gln Disease - Esophageal cancer (ESCR) [MIM:133239] TGFBR2 P37173 VAR_017606 p.Val191Ile Polymorphism rs56105708 - TGFBR2 P37173 VAR_020510 p.Met36Val Polymorphism rs17025864 - TGFBR2 P37173 VAR_022351 p.Leu308Pro Disease rs28934568 Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168] TGFBR2 P37173 VAR_022351 p.Leu308Pro Disease rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380] TGFBR2 P37173 VAR_022352 p.Tyr336Asn Disease - Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168] TGFBR2 P37173 VAR_022353 p.Ala355Pro Disease - Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168] TGFBR2 P37173 VAR_022354 p.Gly357Trp Disease - Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168] TGFBR2 P37173 VAR_022355 p.Val387Met Unclassified rs35766612 A breast tumor TGFBR2 P37173 VAR_022356 p.Asn435Ser Unclassified - A breast tumor TGFBR2 P37173 VAR_022357 p.Val447Ala Unclassified - A breast tumor TGFBR2 P37173 VAR_022358 p.Ser449Phe Disease - Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168] TGFBR2 P37173 VAR_022358 p.Ser449Phe Disease - Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380] TGFBR2 P37173 VAR_022359 p.Leu452Met Unclassified - A breast tumor TGFBR2 P37173 VAR_022360 p.Arg528Cys Disease - Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168] TGFBR2 P37173 VAR_022361 p.Arg528His Disease - Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168] TGFBR2 P37173 VAR_022362 p.Arg537Cys Disease rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380] TGFBR2 P37173 VAR_028063 p.Val439Ala Polymorphism rs1050833 - TGFBR2 P37173 VAR_029760 p.Arg460Cys Disease - Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380] TGFBR2 P37173 VAR_029761 p.Arg460His Disease - Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380] TGFBR2 P37173 VAR_036070 p.Ile73Val Unclassified - A colorectal cancer sample TGFBR2 P37173 VAR_041414 p.Cys61Arg Unclassified - A gastric adenocarcinoma sample TGFBR2 P37173 VAR_041415 p.His328Tyr Unclassified - A lung neuroendocrine carcinoma sample TGFBR2 P37173 VAR_041416 p.Met373Ile Polymorphism rs35719192 - TGFBR2 P37173 VAR_041417 p.Asn490Ser Unclassified - A gastric adenocarcinoma sample TGFBR3 Q03167 VAR_014920 p.Ser15Phe Polymorphism rs1805110 - TGFBR3 Q03167 VAR_020891 p.Ser14Asn Polymorphism rs17884205 - TGFBR3 Q03167 VAR_020892 p.Trp163Leu Polymorphism rs17885124 - TGFBR3 Q03167 VAR_020893 p.Ala635Thr Polymorphism - - TGFBR3 Q03167 VAR_020894 p.Gly765Arg Polymorphism - - TGFBR3 Q03167 VAR_057499 p.Phe351Ile Polymorphism rs11466592 - TGFBRAP1 Q8WUH2 VAR_045822 p.His725Arg Polymorphism rs2241797 - TGIF1 Q15583 VAR_009961 p.Ser157Cys Disease - Holoprosencephaly type 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_009962 p.Pro192Arg Disease - Holoprosencephaly type 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_009963 p.Thr280Ala Disease - Holoprosencephaly type 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_009964 p.Ser291Phe Disease - Holoprosencephaly type 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_020151 p.Pro292Leu Polymorphism rs2229333 - TGIF1 Q15583 VAR_023803 p.Gln236Leu Disease - Holoprosencephaly type 4 (HPE4) [MIM:142946] TGIF1 Q15583 VAR_047363 p.Pro289Ser Polymorphism rs11571512 - TGIF1 Q15583 VAR_061268 p.Pro292Ser Polymorphism rs4468717 - TGIF2LX Q8IUE1 VAR_017867 p.Val197Ile Polymorphism rs2290380 - TGM1 P22735 VAR_007476 p.Arg142His Disease - Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_007477 p.Arg143Cys Disease - Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_007477 p.Arg143Cys Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] TGM1 P22735 VAR_007478 p.Arg143His Disease - Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_007479 p.Gly218Ser Disease - Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_007480 p.Val379Leu Disease - Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_007480 p.Val379Leu Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] TGM1 P22735 VAR_007481 p.Arg396Leu Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] TGM1 P22735 VAR_015220 p.Ser42Tyr Disease rs41295338 Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_015221 p.Arg323Gln Disease - Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_015222 p.Arg389His Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] TGM1 P22735 VAR_020918 p.Asp102Val Disease - Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_020919 p.Asn289Thr Disease - Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_020920 p.Arg307Trp Disease - Ichthyosis lamellar type 1 (LI1) [MIM:242300] TGM1 P22735 VAR_024660 p.Asp802Val Polymorphism rs2228337 - TGM1 P22735 VAR_029268 p.Asp132Asn Polymorphism rs2229462 - TGM1 P22735 VAR_052550 p.Val518Met Polymorphism rs35312232 - TGM1 P22735 VAR_052551 p.Arg607Cys Polymorphism rs2229464 - TGM1 P22735 VAR_052552 p.Ser755Leu Polymorphism rs35926651 - TGM1 P22735 VAR_055374 p.Val372Ile Polymorphism rs41293794 - TGM1 P22735 VAR_058638 p.Cys53Ser Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058639 p.Gly94Asp Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058640 p.Arg126Cys Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058641 p.Arg126His Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058642 p.Tyr134Cys Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058643 p.Arg142Cys Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058644 p.Arg142Pro Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058645 p.Gly144Glu Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058646 p.Gly144Arg Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058647 p.Ser160Cys Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058648 p.Leu205Gln Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058649 p.Val209Phe Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058650 p.Arg225His Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058651 p.Arg225Pro Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058652 p.Ile243Ser Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058653 p.Pro249Leu Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058654 p.Arg264Gln Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058655 p.Arg264Trp Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058656 p.Ser272Pro Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058657 p.Tyr276Asn Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058658 p.Gly278Arg Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058659 p.Glu285Lys Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058660 p.Arg286Gln Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058661 p.Phe293Val Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058662 p.Ile304Phe Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058663 p.Arg307Gly Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058664 p.Arg315Cys Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058665 p.Arg315His Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058666 p.Arg315Leu Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058667 p.Arg323Trp Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058668 p.Asn330His Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058669 p.Ser331Pro Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058670 p.Trp342Arg Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058671 p.Ser358Arg Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058672 p.Val359Met Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058673 p.Tyr365Asp Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058674 p.Leu366Pro Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058675 p.Gly382Arg Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058676 p.Val383Met Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058677 p.Arg389Pro Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058678 p.Gly392Asp Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058679 p.Arg396His Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058680 p.Arg396Ser Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058681 p.Phe401Val Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058682 p.Asp430Val Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058683 p.Gly473Ser Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058684 p.Asp490Gly Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058685 p.Glu520Gly Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058686 p.Tyr544Cys Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058687 p.Arg687Cys Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058688 p.Arg687His Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM1 P22735 VAR_058689 p.Arg764Cys Disease - Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] TGM2 P21980 VAR_036554 p.Gly660Val Unclassified - A colorectal cancer sample TGM2 P21980 VAR_037998 p.Met330Arg Unclassified - - TGM2 P21980 VAR_037999 p.Ile331Asn Unclassified - - TGM2 P21980 VAR_052553 p.Arg76His Polymorphism rs41274720 - TGM2 P21980 VAR_052554 p.Pro536Ser Polymorphism rs45556333 - TGM2 P21980 VAR_055357 p.Arg214His Polymorphism rs45530133 - TGM2 P21980 VAR_055358 p.Gln324Arg Polymorphism rs45567334 - TGM2 P21980 VAR_055359 p.Arg436Trp Polymorphism rs45629036 - TGM3 Q08188 VAR_040067 p.Thr13Lys Polymorphism rs214803 - TGM3 Q08188 VAR_040068 p.Ile163Leu Polymorphism rs6048066 - TGM3 Q08188 VAR_040069 p.Ser249Asn Polymorphism rs214814 - TGM3 Q08188 VAR_040070 p.Lys562Arg Polymorphism rs1042617 - TGM3 Q08188 VAR_040071 p.Gly654Arg Polymorphism rs214830 - TGM3 Q08188 VAR_055360 p.Leu687Met Polymorphism rs45581032 - TGM4 P49221 VAR_052555 p.Glu100Asp Polymorphism rs2271087 - TGM4 P49221 VAR_052556 p.Tyr244His Polymorphism rs9818345 - TGM4 P49221 VAR_052557 p.Ser249Thr Polymorphism rs937838 - TGM4 P49221 VAR_052558 p.Glu313Lys Polymorphism rs1995641 - TGM4 P49221 VAR_052559 p.Arg372Cys Polymorphism rs3749195 - TGM4 P49221 VAR_052560 p.Arg372His Polymorphism rs13326552 - TGM4 P49221 VAR_052561 p.Ile376Val Polymorphism rs17077022 - TGM4 P49221 VAR_052562 p.Val409Ile Polymorphism rs9876921 - TGM4 P49221 VAR_052563 p.Glu437Gln Polymorphism rs1395388 - TGM5 O43548 VAR_013248 p.Pro67Ser Polymorphism - - TGM5 O43548 VAR_013249 p.Ala352Gly Polymorphism rs28756768 - TGM5 O43548 VAR_025848 p.Thr109Met Polymorphism - - TGM5 O43548 VAR_025849 p.Gly113Cys Disease - Peeling skin syndrome type A (APSS) [MIM:609796] TGM5 O43548 VAR_052564 p.Val504Met Polymorphism rs7171797 - TGM5 O43548 VAR_052565 p.Gln521Arg Polymorphism rs35985214 - TGM6 O95932 VAR_013250 p.Met58Val Polymorphism rs2076405 - TGM6 O95932 VAR_065360 p.Asp327Gly Disease - Spinocerebellar ataxia type 35 (SCA35) [MIM:613908] TGM6 O95932 VAR_065361 p.Leu517Trp Disease - Spinocerebellar ataxia type 35 (SCA35) [MIM:613908] TGOLN2 O43493 VAR_034724 p.Leu10Val Polymorphism rs1128140 - TGOLN2 O43493 VAR_034725 p.Ala86Gly Polymorphism rs1044962 - TGOLN2 O43493 VAR_034726 p.Gln91Leu Polymorphism rs1044963 - TGOLN2 O43493 VAR_034727 p.Lys103Gln Polymorphism rs1044964 - TGOLN2 O43493 VAR_034728 p.Gln105Pro Polymorphism rs1044965 - TGOLN2 O43493 VAR_034729 p.Arg259Trp Polymorphism rs4247303 - TGOLN2 O43493 VAR_034730 p.Glu322Gly Polymorphism rs1044969 - TG P01266 VAR_002365 p.Gln870His Polymorphism rs2229843 - TG P01266 VAR_010212 p.Gln135His Polymorphism rs2069546 - TG P01266 VAR_010213 p.Ser734Ala Polymorphism rs180223 - TG P01266 VAR_010214 p.Gln830Glu Polymorphism rs2076737 - TG P01266 VAR_010215 p.Met1028Val Polymorphism rs853326 - TG P01266 VAR_010216 p.Cys1264Arg Disease rs2076738 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_010217 p.Asp1312Gly Polymorphism rs2069556 - TG P01266 VAR_010218 p.Asp1838Asn Polymorphism rs2069561 - TG P01266 VAR_010219 p.Cys1996Ser Disease rs2076739 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_010220 p.Arg1999Trp Polymorphism rs2076740 - TG P01266 VAR_010221 p.Trp2501Arg Polymorphism rs2069569 - TG P01266 VAR_010222 p.Arg2530Gln Polymorphism rs1133076 - TG P01266 VAR_016190 p.Gln515Glu Polymorphism rs180222 - TG P01266 VAR_016852 p.Ser604Asp Polymorphism rs2069547 - TG P01266 VAR_016853 p.Gly653Asp Polymorphism rs2069548 - TG P01266 VAR_016855 p.His1043Tyr Polymorphism - - TG P01266 VAR_016856 p.Ile1059Thr Polymorphism - - TG P01266 VAR_016857 p.Trp1437Arg Polymorphism rs2069558 - TG P01266 VAR_016858 p.Pro1463His Polymorphism - - TG P01266 VAR_016859 p.Ala1936Thr Polymorphism rs2069562 - TG P01266 VAR_016860 p.Asp2091Glu Polymorphism - - TG P01266 VAR_016861 p.Pro2149Leu Polymorphism rs2069564 - TG P01266 VAR_016862 p.Gln2170Arg Polymorphism rs2069565 - TG P01266 VAR_016863 p.Arg2242His Polymorphism rs2069566 - TG P01266 VAR_032013 p.Arg1979Trp Polymorphism - - TG P01266 VAR_049077 p.Pro777Leu Polymorphism rs3739274 - TG P01266 VAR_049078 p.Gly815Arg Polymorphism rs16904774 - TG P01266 VAR_049079 p.Arg988Pro Polymorphism rs16893332 - TG P01266 VAR_049080 p.Leu1063Met Polymorphism rs11992497 - TG P01266 VAR_049081 p.Ser1222Leu Polymorphism rs12549018 - TG P01266 VAR_049082 p.Thr1740Lys Polymorphism rs16904791 - TG P01266 VAR_049083 p.Arg2455His Polymorphism rs2272707 - TG P01266 VAR_049084 p.Leu2469Pro Polymorphism rs2069568 - TG P01266 VAR_049085 p.Phe2526Leu Polymorphism rs12114109 - TG P01266 VAR_049086 p.Asn2616Ser Polymorphism rs10091530 - TG P01266 VAR_061173 p.Met1974Thr Polymorphism rs56230101 - TG P01266 VAR_063034 p.Cys183Tyr Disease - Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_063035 p.Cys1897Tyr Disease - Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_063036 p.Ala2234Asp Disease - Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_063037 p.Arg2336Gln Disease - Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TG P01266 VAR_063038 p.Gly2375Arg Disease - Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] TGS1 Q96RS0 VAR_024734 p.Ile16Thr Polymorphism rs1818 - TGS1 Q96RS0 VAR_024735 p.Ile160Val Polymorphism rs3213971 - TGS1 Q96RS0 VAR_024736 p.Ile511Thr Polymorphism rs10100659 - TGS1 Q96RS0 VAR_024737 p.Val576Ile Polymorphism rs16922259 - TGS1 Q96RS0 VAR_024738 p.Phe754Cys Polymorphism rs7823773 - TGS1 Q96RS0 VAR_056241 p.Pro299Ser Polymorphism rs11986329 - TGS1 Q96RS0 VAR_056242 p.Thr595Ala Polymorphism rs10109493 - THADA Q6YHU6 VAR_054070 p.Glu63Gly Polymorphism rs10210191 - THADA Q6YHU6 VAR_054071 p.Val699Ile Polymorphism rs17031056 - THADA Q6YHU6 VAR_054072 p.Thr1187Ala Polymorphism rs7578597 - THADA Q6YHU6 VAR_054073 p.Thr1385Ser Polymorphism rs33979934 - THADA Q6YHU6 VAR_054074 p.Pro1451Ser Polymorphism rs17334247 - THADA Q6YHU6 VAR_054075 p.Cys1605Tyr Polymorphism rs35720761 - THADA Q6YHU6 VAR_054076 p.Cys1668Arg Polymorphism rs17030648 - THAP1 Q9NVV9 VAR_054788 p.Phe81Leu Disease - Dystonia type 6 (DYT6) [MIM:602629] THAP2 Q9H0W7 VAR_034551 p.Thr170Met Polymorphism rs17110155 - THAP4 Q8WY91 VAR_027161 p.Ser121Gly Polymorphism rs7424328 - THAP7 Q9BT49 VAR_060277 p.Ala115Pro Polymorphism rs426938 - THAP8 Q8NA92 VAR_020264 p.Lys112Arg Polymorphism rs3810450 - THAP8 Q8NA92 VAR_034552 p.Arg70His Polymorphism rs3810449 - THAP8 Q8NA92 VAR_034553 p.Pro157Ser Polymorphism rs34250145 - THAP8 Q8NA92 VAR_052288 p.Arg185Gln Polymorphism rs10421966 - THAP8 Q8NA92 VAR_052289 p.Arg189Trp Polymorphism rs10420353 - THAP9 Q9H5L6 VAR_038486 p.Met284Ile Polymorphism rs1031639 - THAP9 Q9H5L6 VAR_038487 p.Leu299Phe Polymorphism rs897945 - THAP9 Q9H5L6 VAR_038488 p.Asn812Asp Polymorphism rs6535411 - THAP9 Q9H5L6 VAR_061842 p.Val833Ile Polymorphism rs35532215 - THBD P07204 VAR_011368 p.Ala43Thr Disease rs1800576 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] THBD P07204 VAR_011369 p.Gly79Ala Polymorphism rs1800577 - THBD P07204 VAR_011370 p.Ala473Val Polymorphism rs1042579 - THBD P07204 VAR_011371 p.Asp486Tyr Disease rs41348347 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] THBD P07204 VAR_011371 p.Asp486Tyr Disease rs41348347 Thrombophilia due to thrombomodulin defect (THPH12) [MIM:614486] THBD P07204 VAR_011372 p.Pro495Ser Disease rs1800578 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] THBD P07204 VAR_011373 p.Pro501Leu Disease rs1800579 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] THBD P07204 VAR_049011 p.Ala162Pro Polymorphism rs36110902 - THBD P07204 VAR_063223 p.Asp53Gly Disease - Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] THBD P07204 VAR_063224 p.Val81Leu Disease - Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] THBD P07204 VAR_063673 p.Asp34Glu Disease - Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] THBD P07204 VAR_063674 p.Ala236Gly Disease - Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] THBS1 P07996 VAR_028938 p.Thr523Ala Polymorphism rs2292305 - THBS1 P07996 VAR_028939 p.Asn700Ser Polymorphism rs2228262 - THBS1 P07996 VAR_052657 p.Ser24Ala Polymorphism rs41515347 - THBS2 P35442 VAR_045842 p.Thr133Ser Polymorphism rs36088849 - THBS2 P35442 VAR_045843 p.Leu375Phe Polymorphism rs35404985 - THBS3 P49746 VAR_035808 p.Arg955Gly Unclassified - A breast cancer sample THBS3 P49746 VAR_052658 p.Ser279Gly Polymorphism rs35154152 - THBS4 P35443 VAR_019951 p.Leu55Gln Polymorphism rs17881847 - THBS4 P35443 VAR_019952 p.Ala387Pro Polymorphism rs1866389 - THBS4 P35443 VAR_019953 p.Ala420Val Polymorphism rs17882372 - THBS4 P35443 VAR_019954 p.Val646Ile Polymorphism rs2229396 - THBS4 P35443 VAR_052659 p.Val737Ile Polymorphism rs2229398 - THEG Q9P2T0 VAR_035286 p.Arg202Ile Polymorphism rs2303810 - THEG Q9P2T0 VAR_035287 p.Arg267Gln Polymorphism rs2278287 - THEG Q9P2T0 VAR_035288 p.His297Tyr Polymorphism rs10422863 - THEG Q9P2T0 VAR_035289 p.Asp353Asn Polymorphism rs3764656 - THEM4 Q5T1C6 VAR_037865 p.Leu17Arg Polymorphism rs3748805 - THEM4 Q5T1C6 VAR_037866 p.Ser38Cys Polymorphism - - THEM5 Q8N1Q8 VAR_031764 p.Tyr55Ser Polymorphism rs16833597 - THEM5 Q8N1Q8 VAR_031765 p.Asp197Gly Polymorphism rs6587625 - THEM5 Q8N1Q8 VAR_031766 p.Leu206Val Polymorphism rs6587624 - THEM6 Q8WUY1 VAR_032034 p.Glu93Gln Polymorphism rs17851711 - THEMIS2 Q5TEJ8 VAR_051060 p.Val431Leu Polymorphism rs35995543 - THEMIS2 Q5TEJ8 VAR_051061 p.Lys511Glu Polymorphism rs3766400 - THEMIS Q8N1K5 VAR_027846 p.Val284Gly Polymorphism rs11968051 - THEMIS Q8N1K5 VAR_027847 p.Ile630Val Polymorphism rs675531 - THG1L Q9NWX6 VAR_031871 p.Leu232Pro Polymorphism rs2270812 - THNSL1 Q8IYQ7 VAR_052545 p.Leu154Pro Polymorphism rs35827877 - THNSL1 Q8IYQ7 VAR_052546 p.Ala248Glu Polymorphism rs34929144 - THNSL1 Q8IYQ7 VAR_058869 p.Gln399Arg Polymorphism rs41279894 - THNSL1 Q8IYQ7 VAR_061893 p.Pro239Arg Polymorphism rs41279890 - THNSL2 Q86YJ6 VAR_054635 p.Gly41Glu Polymorphism rs4129190 - THNSL2 Q86YJ6 VAR_054636 p.Val108Ile Polymorphism rs35541720 - THNSL2 Q86YJ6 VAR_054637 p.Thr204Asn Polymorphism rs34136143 - THNSL2 Q86YJ6 VAR_054638 p.Arg324Gly Polymorphism rs17855905 - THOC5 Q13769 VAR_021410 p.Val579Ile Polymorphism rs1049534 - THOC5 Q13769 VAR_035692 p.Thr380Lys Unclassified - A breast cancer sample THOC5 Q13769 VAR_035693 p.Gly499Ser Unclassified - A breast cancer sample THOC5 Q13769 VAR_037134 p.Thr475Ser Polymorphism rs8141153 - THOC5 Q13769 VAR_037135 p.Val525Ile Polymorphism rs737976 - TH P07101 VAR_014025 p.Val112Met Polymorphism rs6356 - TH P07101 VAR_014026 p.Arg233His Disease - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014027 p.Leu236Pro Disease - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014028 p.Thr276Pro Disease rs28934581 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014029 p.Thr314Met Disease - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014030 p.Arg337His Disease rs28934580 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014031 p.Gln412Lys Disease - Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014032 p.Thr494Met Disease rs45471299 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH P07101 VAR_014033 p.Val499Met Polymorphism rs1800033 - THPO P40225 VAR_011795 p.Leu14Pro Polymorphism rs1042346 - THPO P40225 VAR_011796 p.Gly116Glu Polymorphism rs1126665 - THRAP3 Q9Y2W1 VAR_024552 p.Ala201Val Polymorphism rs6425977 - THRB P10828 VAR_004632 p.Ala234Thr Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004633 p.Arg243Trp Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004634 p.Arg316His Disease - Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650] THRB P10828 VAR_004635 p.Ala317Thr Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004636 p.Arg320Cys Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004637 p.Arg320His Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004638 p.Gly332Arg Disease rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004640 p.Arg338Trp Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004641 p.Gln340His Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004642 p.Lys342Ile Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004643 p.Gly345Val Disease rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004644 p.Gly345Ser Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004645 p.Gly345Arg Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004646 p.Gly347Glu Disease rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004647 p.Val348Glu Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004648 p.Thr426Ile Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004649 p.Arg438His Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004650 p.Met442Val Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004651 p.Lys443Glu Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004652 p.Cys446Arg Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004653 p.Pro453His Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004654 p.Pro453Ser Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_004655 p.Pro453Thr Disease rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_011784 p.Thr337Ile Polymorphism rs1054624 - THRB P10828 VAR_050577 p.Asp216Gly Polymorphism rs9865746 - THRB P10828 VAR_058508 p.Arg429Gln Disease - Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650] THRB P10828 VAR_059041 p.Ala268Gly Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_059042 p.Asn331Asp Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_059043 p.Ala335Pro Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_059044 p.Leu341Pro Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_059045 p.Leu346Phe Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_059046 p.Ile431Met Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_059047 p.Pro447Thr Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_059048 p.Pro453Leu Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB P10828 VAR_059049 p.Phe459Cys Disease - Generalized thyroid hormone resistance (GTHR) [MIM:188570] THSD1 Q9NS62 VAR_027474 p.Val125Gly Polymorphism rs13313279 - THSD1 Q9NS62 VAR_027475 p.Arg224Gly Polymorphism rs9536062 - THSD1 Q9NS62 VAR_027476 p.Lys768Arg Polymorphism rs9536041 - THSD1 Q9NS62 VAR_061920 p.Asp491His Polymorphism rs56013270 - THSD7A Q9UPZ6 VAR_057366 p.Phe238Leu Polymorphism rs2074599 - THSD7A Q9UPZ6 VAR_057367 p.Asp771Glu Polymorphism rs2285744 - THTPA Q9BU02 VAR_062152 p.His176Arg Polymorphism rs34015250 - THUMPD1 Q9NXG2 VAR_037645 p.Glu311Asp Polymorphism rs11074471 - THUMPD3 Q9BV44 VAR_028976 p.Arg459Gln Polymorphism rs1129174 - TIAM1 Q13009 VAR_035977 p.Arg678Cys Unclassified - A colorectal cancer sample TIAM1 Q13009 VAR_035978 p.Ala1339Val Unclassified - A colorectal cancer sample TIAM1 Q13009 VAR_051991 p.Gly247Arg Polymorphism rs2070418 - TIAM1 Q13009 VAR_051992 p.Gly247Val Polymorphism rs2070417 - TIAM1 Q13009 VAR_051993 p.Gln844His Polymorphism rs16987932 - TIAM2 Q8IVF5 VAR_038534 p.Arg1101Cys Polymorphism rs11751128 - TIAM2 Q8IVF5 VAR_038535 p.Asp1572Glu Polymorphism rs1571767 - TIAM2 Q8IVF5 VAR_051994 p.Arg332His Polymorphism rs931312 - TIAM2 Q8IVF5 VAR_051995 p.Arg913His Polymorphism rs7770537 - TIAM2 Q8IVF5 VAR_051996 p.Ser1089Pro Polymorphism rs4259257 - TICAM1 Q8IUC6 VAR_038789 p.Met46Ile Unclassified - A breast cancer sample TICAM1 Q8IUC6 VAR_051416 p.Arg75Cys Polymorphism rs11466719 - TICAM1 Q8IUC6 VAR_051417 p.Leu275Val Polymorphism rs11466721 - TICAM1 Q8IUC6 VAR_051418 p.Ala666Thr Polymorphism rs11466724 - TICRR Q7Z2Z1 VAR_034631 p.Arg628Cys Polymorphism rs3743372 - TICRR Q7Z2Z1 VAR_050886 p.Arg287Cys Polymorphism rs10775247 - TICRR Q7Z2Z1 VAR_050887 p.Arg402Trp Polymorphism rs11629584 - TICRR Q7Z2Z1 VAR_050888 p.Val747Ala Polymorphism rs12905387 - TICRR Q7Z2Z1 VAR_050889 p.Ser923Cys Polymorphism rs16943377 - TICRR Q7Z2Z1 VAR_050890 p.Arg1523Cys Polymorphism rs894157 - TICRR Q7Z2Z1 VAR_050891 p.Ser1718Thr Polymorphism rs1866928 - TICRR Q7Z2Z1 VAR_050892 p.Arg1885Cys Polymorphism rs3743372 - TIE1 P35590 VAR_041852 p.Val448Met Polymorphism rs56302794 - TIE1 P35590 VAR_041853 p.Ala1104Val Polymorphism rs35573981 - TIE1 P35590 VAR_041854 p.Arg1109His Polymorphism rs34993202 - TIFA Q96CG3 VAR_051422 p.Thr19Met Polymorphism rs6834237 - TIGD2 Q4W5G0 VAR_053036 p.His475Arg Polymorphism rs2280099 - TIGD4 Q8IY51 VAR_030042 p.Ile439Val Polymorphism rs4696354 - TIGD4 Q8IY51 VAR_057509 p.Ala432Thr Polymorphism rs34432931 - TIGD4 Q8IY51 VAR_057510 p.Gln489Arg Polymorphism rs35581576 - TIGD5 Q53EQ6 VAR_030043 p.Met568Ile Polymorphism rs10282929 - TIGD6 Q17RP2 VAR_030044 p.Arg59Trp Polymorphism rs9324636 - TIGD6 Q17RP2 VAR_030045 p.Gln327Arg Polymorphism rs10875553 - TIGIT Q495A1 VAR_056079 p.Ile33Val Polymorphism rs13098836 - TIMD4 Q96H15 VAR_049946 p.Val240Ala Polymorphism rs6873053 - TIMD4 Q96H15 VAR_049947 p.Val365Met Polymorphism rs7731575 - TIMELESS Q9UNS1 VAR_021483 p.Ile455Leu Polymorphism rs774027 - TIMELESS Q9UNS1 VAR_021484 p.Arg831Gln Polymorphism rs774047 - TIMELESS Q9UNS1 VAR_021485 p.Pro1018Leu Polymorphism rs2291739 - TIMELESS Q9UNS1 VAR_036435 p.Ala429Asp Unclassified - A breast cancer sample TIMELESS Q9UNS1 VAR_036436 p.Gln1008Glu Unclassified - A breast cancer sample TIMELESS Q9UNS1 VAR_047879 p.Ala129Ser Polymorphism - - TIMELESS Q9UNS1 VAR_047880 p.Asn471Ser Polymorphism - - TIMELESS Q9UNS1 VAR_047881 p.Met870Val Polymorphism - - TIMELESS Q9UNS1 VAR_047882 p.Arg922His Polymorphism - - TIMELESS Q9UNS1 VAR_047883 p.Arg924Trp Polymorphism - - TIMELESS Q9UNS1 VAR_047884 p.Ile1017Thr Polymorphism rs61376834 - TIMM10B Q9Y5J6 VAR_025665 p.Gly90Ser Polymorphism rs17850713 - TIMM10B Q9Y5J6 VAR_061843 p.Ala66Ser Polymorphism rs60702727 - TIMM17A Q99595 VAR_052305 p.Val113Ile Polymorphism rs4648 - TIMM21 Q9BVV7 VAR_052306 p.Gly79Ser Polymorphism rs3737512 - TIMM8A O60220 VAR_010237 p.Cys66Trp Disease - Mohr-Tranebjaerg syndrome (MTS) [MIM:304700] TIMMDC1 Q9NPL8 VAR_027885 p.Asn76Asp Polymorphism rs11539377 - TIMMDC1 Q9NPL8 VAR_061572 p.Val217Ile Polymorphism rs57168946 - TIMP3 P35625 VAR_007508 p.Ser179Cys Disease - Sorsby fundus dystrophy (SFD) [MIM:136900] TIMP3 P35625 VAR_007509 p.Tyr191Cys Disease - Sorsby fundus dystrophy (SFD) [MIM:136900] TIMP3 P35625 VAR_007510 p.Ser204Cys Disease - Sorsby fundus dystrophy (SFD) [MIM:136900] TIMP3 P35625 VAR_008290 p.Gly189Cys Disease - Sorsby fundus dystrophy (SFD) [MIM:136900] TIMP3 P35625 VAR_010901 p.Gly190Cys Disease - Sorsby fundus dystrophy (SFD) [MIM:136900] TINAGL1 Q9GZM7 VAR_051514 p.Ala69Ser Polymorphism rs17497479 - TINAG Q9UJW2 VAR_047091 p.Thr3Ala Polymorphism rs16885197 - TINAG Q9UJW2 VAR_047092 p.Gln22Arg Polymorphism rs2297980 - TINAG Q9UJW2 VAR_047093 p.Ser158Pro Polymorphism rs1058768 - TINAG Q9UJW2 VAR_047094 p.Val413Ile Polymorphism rs34011963 - TINAG Q9UJW2 VAR_047095 p.Ile433Leu Polymorphism rs3736352 - TINF2 Q9BSI4 VAR_043914 p.Lys280Glu Disease - Dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990] TINF2 Q9BSI4 VAR_043915 p.Arg282His Disease - Dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990] TINF2 Q9BSI4 VAR_043915 p.Arg282His Disease - Retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130] TINF2 Q9BSI4 VAR_043916 p.Arg282Ser Disease - Dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990] TINF2 Q9BSI4 VAR_051423 p.Ala43Thr Polymorphism rs35653076 - TINF2 Q9BSI4 VAR_051424 p.Gly237Asp Polymorphism rs17102313 - TINF2 Q9BSI4 VAR_051425 p.Pro241Ser Polymorphism rs17102311 - TIPARP Q7Z3E1 VAR_027155 p.Arg406Ser Polymorphism rs17854621 - TIPIN Q9BVW5 VAR_035194 p.Arg53Pro Polymorphism rs9806123 - TIPIN Q9BVW5 VAR_035195 p.Ala111Gly Polymorphism rs2063690 - TIPIN Q9BVW5 VAR_035196 p.Ala267Ser Polymorphism rs3759786 - TIPIN Q9BVW5 VAR_053952 p.Leu260Pro Polymorphism rs3759787 - TIPIN Q9BVW5 VAR_054483 p.Asn270Ser Polymorphism - - TIPIN Q9BVW5 VAR_062207 p.Asn270Asp Polymorphism rs34848112 - TIRAP P58753 VAR_019143 p.Ala9Pro Polymorphism rs8177369 - TIRAP P58753 VAR_019144 p.Arg13Trp Polymorphism rs8177399 - TIRAP P58753 VAR_019145 p.Asp96Asn Polymorphism rs8177400 - TIRAP P58753 VAR_019146 p.Ser180Leu Polymorphism rs8177374 - TIRAP P58753 VAR_036691 p.Ser55Asn Polymorphism rs3802813 - TIRAP P58753 VAR_061713 p.Val197Ile Polymorphism rs7932976 - TJP1 Q07157 VAR_025153 p.Asn471Ser Polymorphism rs2229517 - TJP1 Q07157 VAR_025154 p.Ile790Val Polymorphism rs7179270 - TJP1 Q07157 VAR_025155 p.Pro930Leu Polymorphism rs45529137 - TJP1 Q07157 VAR_025156 p.His1110Arg Polymorphism rs45567033 - TJP1 Q07157 VAR_025157 p.Asp1347Ala Polymorphism rs2291166 - TJP1 Q07157 VAR_025158 p.Asn1605Ser Polymorphism rs45578638 - TJP2 Q9UDY2 VAR_016004 p.Val48Ala Disease - Familial hypercholanemia (FHCA) [MIM:607748] TJP2 Q9UDY2 VAR_030798 p.Asp482Glu Polymorphism rs2309428 - TJP2 Q9UDY2 VAR_046675 p.Met668Ile Polymorphism rs34774441 - TJP2 Q9UDY2 VAR_046676 p.Ser711Pro Polymorphism rs35797487 - TJP2 Q9UDY2 VAR_046677 p.Lys822Asn Polymorphism rs1049624 - TJP2 Q9UDY2 VAR_046678 p.Asn829Asp Polymorphism rs1049625 - TJP3 O95049 VAR_056114 p.Met912Thr Polymorphism rs1046268 - TK2 O00142 VAR_019419 p.Ile53Met Disease - Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_019420 p.Thr108Met Disease - Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_019421 p.His121Asn Disease - Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_019422 p.Ile212Asn Disease - Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_023790 p.Thr64Met Disease - Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_023791 p.Arg183Trp Disease - Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] TK2 O00142 VAR_023792 p.Arg192Lys Disease - Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] TKTL1 P51854 VAR_029867 p.Leu24Phe Polymorphism rs17855509 - TKTL1 P51854 VAR_029868 p.Ile152Thr Polymorphism rs17852259 - TKTL2 Q9H0I9 VAR_031990 p.Arg442Gln Polymorphism rs3811750 - TKTL2 Q9H0I9 VAR_031991 p.Gln590His Polymorphism rs11735477 - TKT P29401 VAR_052634 p.Ile181Val Polymorphism rs17052920 - TLE3 Q04726 VAR_053421 p.Ala229Val Polymorphism rs1057864 - TLK1 Q9UKI8 VAR_041215 p.Arg121Cys Polymorphism - - TLK2 Q86UE8 VAR_041216 p.His6Arg Polymorphism rs45550140 - TLK2 Q86UE8 VAR_041217 p.Glu54Asp Polymorphism - - TLK2 Q86UE8 VAR_041218 p.Ala95Gly Polymorphism - - TLK2 Q86UE8 VAR_041219 p.Ala108Gly Polymorphism - - TLK2 Q86UE8 VAR_041220 p.Arg109Leu Polymorphism - - TLK2 Q86UE8 VAR_041221 p.Phe173Leu Unclassified - A gastric adenocarcinoma sample TLK2 Q86UE8 VAR_041222 p.Arg262Gln Polymorphism - - TLL1 O43897 VAR_036142 p.Leu688Val Unclassified - A breast cancer sample TLL1 O43897 VAR_051585 p.Thr958Ala Polymorphism rs2291822 - TLL1 O43897 VAR_062519 p.Met182Leu Disease - Atrial septal defect type 6 (ASD6) [MIM:613087] TLL1 O43897 VAR_062520 p.Val238Ala Disease - Atrial septal defect type 6 (ASD6) [MIM:613087] TLL1 O43897 VAR_062521 p.Ile629Val Disease - Atrial septal defect type 6 (ASD6) [MIM:613087] TLN1 Q9Y490 VAR_023751 p.Ser1227Leu Polymorphism rs2295795 - TLN1 Q9Y490 VAR_023752 p.Arg1919Trp Polymorphism rs17854239 - TLN1 Q9Y490 VAR_055538 p.Ala1984Thr Polymorphism rs35642290 - TLN2 Q9Y4G6 VAR_014432 p.Ala1148Ser Polymorphism rs2280279 - TLN2 Q9Y4G6 VAR_014433 p.Phe2266Leu Polymorphism rs3816988 - TLN2 Q9Y4G6 VAR_055313 p.Val340Ala Polymorphism rs11634784 - TLN2 Q9Y4G6 VAR_055314 p.Val1877Ile Polymorphism rs7182971 - TLN2 Q9Y4G6 VAR_055315 p.Thr2144Ile Polymorphism rs11633796 - TLN2 Q9Y4G6 VAR_059136 p.Ala1148Thr Polymorphism rs2280279 - TLR10 Q9BXR5 VAR_024669 p.Ala163Ser Polymorphism rs11466649 - TLR10 Q9BXR5 VAR_024670 p.Asn241His Polymorphism rs11096957 - TLR10 Q9BXR5 VAR_024671 p.Met326Thr Polymorphism rs11466653 - TLR10 Q9BXR5 VAR_024672 p.Ile369Leu Polymorphism rs11096955 - TLR10 Q9BXR5 VAR_024673 p.Gly381Asp Polymorphism rs11466655 - TLR10 Q9BXR5 VAR_024674 p.Arg525Trp Polymorphism rs11466658 - TLR10 Q9BXR5 VAR_028125 p.Leu167Pro Polymorphism rs11466650 - TLR10 Q9BXR5 VAR_028126 p.Val298Ile Polymorphism rs11466651 - TLR10 Q9BXR5 VAR_028127 p.Arg469Gly Polymorphism rs11466656 - TLR10 Q9BXR5 VAR_028128 p.Ile473Thr Polymorphism rs11466657 - TLR10 Q9BXR5 VAR_028129 p.Tyr736Cys Polymorphism rs11466660 - TLR10 Q9BXR5 VAR_028130 p.Ile775Leu Polymorphism rs4129009 - TLR10 Q9BXR5 VAR_028131 p.Arg799Gln Polymorphism rs4129008 - TLR10 Q9BXR5 VAR_059832 p.Ile775Phe Polymorphism rs4129009 - TLR10 Q9BXR5 VAR_059833 p.Ile775Val Polymorphism rs4129009 - TLR10 Q9BXR5 VAR_059834 p.Arg799Leu Polymorphism rs4129008 - TLR10 Q9BXR5 VAR_059835 p.Arg799Pro Polymorphism rs4129008 - TLR1 Q15399 VAR_018474 p.His118Tyr Polymorphism rs5743612 - TLR1 Q15399 VAR_031916 p.Arg80Thr Polymorphism rs5743611 - TLR1 Q15399 VAR_031917 p.Asn248Ser Unclassified - - TLR1 Q15399 VAR_031918 p.His305Leu Polymorphism rs3923647 - TLR1 Q15399 VAR_031919 p.Pro315Leu Polymorphism rs5743613 - TLR1 Q15399 VAR_031920 p.Val587Gly Polymorphism rs5743617 - TLR1 Q15399 VAR_031921 p.Ser602Ile Polymorphism rs5743618 - TLR1 Q15399 VAR_052358 p.Leu631Arg Polymorphism rs5743619 - TLR1 Q15399 VAR_052359 p.Pro733Leu Polymorphism rs5743621 - TLR2 O60603 VAR_024663 p.Pro631His Polymorphism rs5743704 - TLR2 O60603 VAR_026765 p.Thr411Ile Polymorphism rs5743699 - TLR2 O60603 VAR_026766 p.Arg579His Polymorphism rs5743703 - TLR2 O60603 VAR_031236 p.Arg677Trp Polymorphism - - TLR2 O60603 VAR_031237 p.Arg753Gln Polymorphism rs5743708 - TLR2 O60603 VAR_052360 p.Tyr715Asn Polymorphism rs5743706 - TLR3 O15455 VAR_021976 p.Leu412Phe Polymorphism rs3775291 - TLR3 O15455 VAR_024664 p.Ser737Thr Polymorphism rs5743318 - TLR3 O15455 VAR_052361 p.Asn284Ile Polymorphism rs5743316 - TLR3 O15455 VAR_052362 p.Tyr307Asp Polymorphism rs5743317 - TLR3 O15455 VAR_054887 p.Pro554Ser Disease - Herpes simplex encephalitis type 2 (HSE2) [MIM:613002] TLR4 O00206 VAR_012739 p.Asp299Gly Polymorphism rs4986790 - TLR4 O00206 VAR_012740 p.Thr399Ile Polymorphism rs4986791 - TLR4 O00206 VAR_018729 p.Gln188Arg Polymorphism rs5030713 - TLR4 O00206 VAR_018730 p.Cys246Ser Polymorphism rs5030714 - TLR4 O00206 VAR_018731 p.Asn329Ser Polymorphism rs5030715 - TLR4 O00206 VAR_018732 p.Phe443Leu Polymorphism rs5030716 - TLR4 O00206 VAR_018733 p.Glu474Lys Polymorphism rs5030718 - TLR4 O00206 VAR_018734 p.Gln510His Polymorphism rs5030719 - TLR4 O00206 VAR_018735 p.Lys694Arg Polymorphism rs5030722 - TLR4 O00206 VAR_018736 p.Arg763His Polymorphism rs5030723 - TLR4 O00206 VAR_018737 p.Gln834His Polymorphism - - TLR4 O00206 VAR_020334 p.Phe342Tyr Polymorphism rs5031050 - TLR4 O00206 VAR_020335 p.Ser400Asn Polymorphism rs4987233 - TLR4 O00206 VAR_021977 p.Thr175Ala Polymorphism rs16906079 - TLR4 O00206 VAR_037668 p.Leu385Phe Polymorphism rs11536884 - TLR4 O00206 VAR_047563 p.Cys306Trp Polymorphism rs2770145 - TLR4 O00206 VAR_047564 p.Val310Gly Polymorphism rs2770144 - TLR5 O60602 VAR_018399 p.Asn592Ser Polymorphism rs2072493 - TLR5 O60602 VAR_018400 p.Phe616Leu Polymorphism rs5744174 - TLR5 O60602 VAR_032455 p.Thr82Ile Polymorphism rs764535 - TLR5 O60602 VAR_032456 p.Pro112Ala Polymorphism rs5744166 - TLR5 O60602 VAR_047454 p.Phe822Leu Polymorphism rs7512943 - TLR5 O60602 VAR_061856 p.Asn143Thr Polymorphism rs5744167 - TLR5 O60602 VAR_061857 p.Gln181Lys Polymorphism rs45528236 - TLR5 O60602 VAR_061858 p.Leu769Phe Polymorphism rs56243703 - TLR6 Q9Y2C9 VAR_057289 p.Ile120Thr Polymorphism rs5743808 - TLR6 Q9Y2C9 VAR_057290 p.Leu194Pro Polymorphism rs5743809 - TLR6 Q9Y2C9 VAR_057291 p.Arg247Lys Polymorphism rs35220466 - TLR6 Q9Y2C9 VAR_057292 p.Val327Met Polymorphism rs3796508 - TLR6 Q9Y2C9 VAR_057293 p.His345Tyr Polymorphism rs5743813 - TLR6 Q9Y2C9 VAR_057294 p.Val427Ala Polymorphism rs5743815 - TLR6 Q9Y2C9 VAR_057295 p.Val465Ile Polymorphism rs5743816 - TLR6 Q9Y2C9 VAR_057296 p.Ala474Thr Polymorphism rs35762983 - TLR6 Q9Y2C9 VAR_057297 p.Met783Val Polymorphism rs5743822 - TLR6 Q9Y2C9 VAR_063110 p.Ser249Pro Polymorphism rs5743810 - TLR7 Q9NYK1 VAR_024665 p.Ala448Val Polymorphism rs5743781 - TLR7 Q9NYK1 VAR_034554 p.Gln11Leu Polymorphism rs179008 - TLR8 Q9NR97 VAR_024667 p.Met10Val Polymorphism rs5744077 - TLR8 Q9NR97 VAR_052363 p.Arg715Gln Polymorphism rs5744082 - TLR9 Q9NR96 VAR_024668 p.Arg5Cys Polymorphism rs5743842 - TLR9 Q9NR96 VAR_034555 p.Arg863Gln Polymorphism rs5743845 - TLR9 Q9NR96 VAR_036077 p.Arg901His Unclassified - A colorectal cancer sample TLR9 Q9NR96 VAR_036078 p.Thr933Met Unclassified - A colorectal cancer sample TLR9 Q9NR96 VAR_052364 p.His79Gln Polymorphism rs5743843 - TLR9 Q9NR96 VAR_052365 p.Ala882Thr Polymorphism rs5743846 - TM4SF19 Q96DZ7 VAR_057280 p.Val162Ile Polymorphism rs35643777 - TM4SF19 Q96DZ7 VAR_060546 p.Gln8Pro Polymorphism rs6785339 - TM4SF20 Q53R12 VAR_027673 p.Ala27Val Polymorphism rs7574414 - TM6SF1 Q9BZW5 VAR_012844 p.Ile17Thr Polymorphism rs1062232 - TM6SF1 Q9BZW5 VAR_024661 p.Pro59Ser Polymorphism rs1989 - TM6SF2 Q9BZW4 VAR_062153 p.Glu167Lys Polymorphism rs58542926 - TM7SF2 O76062 VAR_012716 p.Thr299Ile Polymorphism rs1129195 - TM7SF2 O76062 VAR_052153 p.Ala119Val Polymorphism rs11539360 - TM7SF3 Q9NS93 VAR_034556 p.Pro179Arg Polymorphism rs34735713 - TM7SF3 Q9NS93 VAR_051437 p.Pro248Leu Polymorphism rs10771314 - TM9SF1 O15321 VAR_024662 p.Arg215His Polymorphism rs10583 - TM9SF1 O15321 VAR_053728 p.Leu18Met Polymorphism rs11549700 - TMA16 Q96EY4 VAR_039349 p.Gln65Pro Polymorphism rs2304802 - TMA16 Q96EY4 VAR_039350 p.Ile176Thr Polymorphism rs1561736 - TMA16 Q96EY4 VAR_054013 p.Arg12Gln Polymorphism rs34907234 - TMBIM1 Q969X1 VAR_017382 p.Pro21Leu Polymorphism rs2292553 - TMBIM4 Q9HC24 VAR_014946 p.Ile88Thr Polymorphism rs8793 - TMBIM4 Q9HC24 VAR_055547 p.Ala2Val Polymorphism rs11176070 - TMC1 Q8TDI8 VAR_014125 p.Asp572Asn Disease - Deafness autosomal dominant type 36 (DFNA36) [MIM:606705] TMC1 Q8TDI8 VAR_014126 p.Met654Val Disease - Deafness autosomal recessive type 7 (DFNB7) [MIM:600974] TMC1 Q8TDI8 VAR_052333 p.Glu81Lys Polymorphism rs1796993 - TMC1 Q8TDI8 VAR_052334 p.Arg141Trp Polymorphism rs11143384 - TMC1 Q8TDI8 VAR_052335 p.Met486Thr Polymorphism rs17058153 - TMC2 Q8TDI7 VAR_023360 p.Arg123Lys Polymorphism rs6050063 - TMC2 Q8TDI7 VAR_030621 p.Ser573Cys Polymorphism rs16987592 - TMC2 Q8TDI7 VAR_030622 p.Glu800Gln Polymorphism rs6115242 - TMC2 Q8TDI7 VAR_057281 p.Gln205Arg Polymorphism rs11908093 - TMC2 Q8TDI7 VAR_057282 p.Trp217Arg Polymorphism rs34884202 - TMC2 Q8TDI7 VAR_057283 p.Ser589Cys Polymorphism rs16987592 - TMC2 Q8TDI7 VAR_057284 p.Glu816Gln Polymorphism rs6115242 - TMC4 Q7Z404 VAR_032621 p.Gly17Glu Polymorphism rs641738 - TMC4 Q7Z404 VAR_032622 p.Gln689Glu Polymorphism rs36657 - TMC5 Q6UXY8 VAR_057285 p.Ser328Asn Polymorphism rs16972013 - TMC5 Q6UXY8 VAR_061850 p.Ala355Thr Polymorphism rs36019638 - TMC6 Q7Z403 VAR_023963 p.Trp125Arg Polymorphism rs2748427 - TMC6 Q7Z403 VAR_052336 p.Leu153Phe Polymorphism rs12449858 - TMC6 Q7Z403 VAR_061851 p.Gly191Asp Polymorphism rs34712518 - TMC7 Q7Z402 VAR_032278 p.Arg59Trp Polymorphism rs17854512 - TMC7 Q7Z402 VAR_032279 p.Gly254Glu Polymorphism rs28583298 - TMC7 Q7Z402 VAR_032280 p.Thr635Ile Polymorphism rs11864159 - TMC7 Q7Z402 VAR_061852 p.Thr355Ser Polymorphism rs55796412 - TMC8 Q8IU68 VAR_023964 p.Asn306Ile Polymorphism rs7208422 - TMC8 Q8IU68 VAR_052337 p.Val501Ile Polymorphism rs11651675 - TMCC1 O94876 VAR_047918 p.Ser165Gly Polymorphism rs784689 - TMCC3 Q9ULS5 VAR_063144 p.Tyr16Asp Polymorphism rs1274523 - TMCC3 Q9ULS5 VAR_063145 p.Pro232Gln Polymorphism rs17854038 - TMCO3 Q6UWJ1 VAR_050037 p.Ala443Thr Polymorphism rs2260335 - TMCO3 Q6UWJ1 VAR_050038 p.Ala445Thr Polymorphism rs7319493 - TMCO4 Q5TGY1 VAR_035169 p.Gln72Lys Polymorphism rs10917536 - TMCO4 Q5TGY1 VAR_035170 p.Arg478His Polymorphism rs4515815 - TMCO6 Q96DC7 VAR_035171 p.Thr299Ser Polymorphism rs17208187 - TMED10 P49755 VAR_012051 p.Ser64Tyr Polymorphism rs4929 - TMED10 P49755 VAR_049111 p.Arg152Gly Polymorphism rs17103066 - TMED1 Q13445 VAR_036533 p.Asp102Asn Unclassified - A breast cancer sample TMED3 Q9Y3Q3 VAR_049110 p.Asp86Asn Polymorphism rs3784543 - TMED5 Q9Y3A6 VAR_017150 p.Thr175Ile Polymorphism rs1060622 - TMED8 Q6PL24 VAR_049112 p.Gln5Lys Polymorphism rs3742737 - TMED9 Q9BVK6 VAR_061178 p.Thr16Ser Polymorphism rs57960711 - TMEFF1 Q8IYR6 VAR_032060 p.Val189Ile Polymorphism rs35624603 - TMEM102 Q8N9M5 VAR_029595 p.Ala110Val Polymorphism rs3809718 - TMEM104 Q8NE00 VAR_028831 p.Val58Met Polymorphism rs2016126 - TMEM104 Q8NE00 VAR_028832 p.Ala439Thr Polymorphism rs3803784 - TMEM105 Q8N8V8 VAR_051426 p.Arg122Trp Polymorphism rs9916085 - TMEM106B Q9NUM4 VAR_026849 p.Thr185Ser Polymorphism rs3173615 - TMEM106C Q9BVX2 VAR_026868 p.Ser175Phe Polymorphism rs2286025 - TMEM106C Q9BVX2 VAR_052338 p.Val103Phe Polymorphism rs35000511 - TMEM108 Q6UXF1 VAR_051427 p.Pro84Leu Polymorphism rs34111099 - TMEM114 B3SHH9 VAR_058707 p.Ile35Thr Polymorphism - - TMEM114 B3SHH9 VAR_058708 p.Ala147Val Polymorphism - - TMEM114 B3SHH9 VAR_058709 p.Phe206Leu Polymorphism - - TMEM116 Q8NCL8 VAR_027659 p.Cys22Gly Polymorphism rs3752630 - TMEM117 Q9H0C3 VAR_027660 p.Arg90His Polymorphism rs1948516 - TMEM119 Q4V9L6 VAR_027663 p.Ile72Thr Polymorphism rs7975237 - TMEM120A Q9BXJ8 VAR_036933 p.Gln86Arg Polymorphism rs17852664 - TMEM120A Q9BXJ8 VAR_036934 p.Thr201Ala Polymorphism rs17855697 - TMEM123 Q8N131 VAR_053023 p.Val71Met Polymorphism rs2155587 - TMEM123 Q8N131 VAR_053024 p.Val86Phe Polymorphism rs11547915 - TMEM123 Q8N131 VAR_053025 p.Ala158Thr Polymorphism rs12288849 - TMEM125 Q96AQ2 VAR_035669 p.Arg107Leu Unclassified - A breast cancer sample TMEM125 Q96AQ2 VAR_051428 p.Ala112Asp Polymorphism rs35880191 - TMEM126A Q9H061 VAR_053817 p.Arg64His Polymorphism rs11556797 - TMEM126B Q8IUX1 VAR_031188 p.Ala198Val Polymorphism rs17850847 - TMEM127 O75204 VAR_063595 p.Val90Met Unclassified - - TMEM129 A0AVI4 VAR_032803 p.Leu83Ile Polymorphism rs798752 - TMEM130 Q8N3G9 VAR_030740 p.Glu407Val Polymorphism rs17161477 - TMEM132A Q24JP5 VAR_032262 p.Arg699His Polymorphism rs524523 - TMEM132A Q24JP5 VAR_032263 p.Ala969Val Polymorphism rs2469887 - TMEM132B Q14DG7 VAR_031786 p.Ala658Val Polymorphism rs16919359 - TMEM132C Q8N3T6 VAR_039832 p.His161Arg Polymorphism rs11059681 - TMEM132C Q8N3T6 VAR_039833 p.Val232Met Polymorphism rs12307622 - TMEM132C Q8N3T6 VAR_039834 p.Val272Ile Polymorphism rs1683723 - TMEM132C Q8N3T6 VAR_039835 p.Val444Ile Polymorphism rs4272850 - TMEM132C Q8N3T6 VAR_039836 p.Thr730Ser Polymorphism rs12426596 - TMEM132C Q8N3T6 VAR_039837 p.Phe799Ile Polymorphism rs12301587 - TMEM132C Q8N3T6 VAR_039838 p.Gly810Arg Polymorphism rs12424159 - TMEM132D Q14C87 VAR_032264 p.Leu878Phe Polymorphism rs555131 - TMEM132D Q14C87 VAR_053887 p.Glu436Gln Polymorphism rs12816729 - TMEM132D Q14C87 VAR_053888 p.Asp460His Polymorphism rs12816538 - TMEM135 Q86UB9 VAR_031787 p.Pro193His Polymorphism rs17854687 - TMEM135 Q86UB9 VAR_031788 p.Gly218Arg Polymorphism rs2276102 - TMEM135 Q86UB9 VAR_031789 p.Gly430Ala Polymorphism rs11235097 - TMEM140 Q9NV12 VAR_030262 p.Pro6Ser Polymorphism rs292500 - TMEM140 Q9NV12 VAR_030263 p.Arg7Gln Polymorphism rs3800592 - TMEM140 Q9NV12 VAR_030264 p.Gln11Glu Polymorphism rs11558290 - TMEM140 Q9NV12 VAR_030265 p.Phe29Leu Polymorphism rs292501 - TMEM140 Q9NV12 VAR_035670 p.Ala112Glu Unclassified - A colorectal cancer sample TMEM143 Q96AN5 VAR_032058 p.Asp143Asn Polymorphism rs34488893 - TMEM144 Q7Z5S9 VAR_032544 p.Asp157Gly Polymorphism rs34277853 - TMEM145 Q8NBT3 VAR_060400 p.Leu256Met Polymorphism rs7254227 - TMEM147 Q9BVK8 VAR_051429 p.Tyr132His Polymorphism rs1269215 - TMEM14A Q9Y6G1 VAR_052497 p.Cys37Arg Polymorphism rs11543266 - TMEM14C Q9P0S9 VAR_046947 p.Ser106Arg Polymorphism rs1045961 - TMEM14C Q9P0S9 VAR_046948 p.Phe108Leu Polymorphism rs1045964 - TMEM14C Q9P0S9 VAR_046949 p.Asn109Ile Polymorphism rs1045967 - TMEM14C Q9P0S9 VAR_046950 p.His112Asp Polymorphism rs1045986 - TMEM14D A8MWL7 VAR_045605 p.Arg108Cys Polymorphism rs5030881 - TMEM14E Q6UXP3 VAR_046161 p.Leu82Pro Polymorphism rs13077912 - TMEM150B A6NC51 VAR_046343 p.Leu199Phe Polymorphism rs7246479 - TMEM154 Q6P9G4 VAR_031755 p.Ser93Phe Polymorphism rs17855714 - TMEM155 Q4W5P6 VAR_031410 p.Ala11Val Polymorphism rs4370153 - TMEM156 Q8N614 VAR_031756 p.Tyr48Cys Polymorphism rs35576563 - TMEM156 Q8N614 VAR_031757 p.Met212Thr Polymorphism rs2276887 - TMEM156 Q8N614 VAR_051430 p.Ser105Pro Polymorphism rs11542133 - TMEM159 Q96B96 VAR_030923 p.Gly107Ser Polymorphism rs1046480 - TMEM159 Q96B96 VAR_030924 p.Glu154Asp Polymorphism rs1063087 - TMEM159 Q96B96 VAR_057765 p.Phe97Leu Polymorphism rs35345508 - TMEM160 Q9NX00 VAR_030600 p.Gly120Ser Polymorphism rs11083857 - TMEM161A Q9NX61 VAR_036537 p.Glu85Val Unclassified - A breast cancer sample TMEM164 Q5U3C3 VAR_035671 p.Tyr276His Unclassified - A colorectal cancer sample TMEM164 Q5U3C3 VAR_054035 p.Ser204Asn Polymorphism rs34026111 - TMEM171 Q8WVE6 VAR_057003 p.Phe23Leu Polymorphism rs638333 - TMEM171 Q8WVE6 VAR_057004 p.Arg86Gly Polymorphism rs637450 - TMEM171 Q8WVE6 VAR_057005 p.Asn139Lys Polymorphism rs636926 - TMEM173 Q86WV6 VAR_029863 p.Arg71His Polymorphism rs11554776 - TMEM173 Q86WV6 VAR_029864 p.His232Arg Polymorphism rs1131769 - TMEM173 Q86WV6 VAR_029865 p.Arg293Gln Polymorphism rs7380824 - TMEM175 Q9BSA9 VAR_053873 p.Gln65Pro Polymorphism rs34884217 - TMEM175 Q9BSA9 VAR_053874 p.Met393Thr Polymorphism rs34311866 - TMEM176A Q96HP8 VAR_031032 p.Thr122Ala Polymorphism rs741064 - TMEM176A Q96HP8 VAR_031033 p.Leu187Phe Polymorphism rs10378 - TMEM176A Q96HP8 VAR_031034 p.Thr208Ala Polymorphism rs9088 - TMEM176B Q3YBM2 VAR_031035 p.Pro55Ser Polymorphism rs11546671 - TMEM176B Q3YBM2 VAR_031036 p.Thr70Ala Polymorphism rs28434777 - TMEM176B Q3YBM2 VAR_031037 p.Ser94Arg Polymorphism rs3173833 - TMEM176B Q3YBM2 VAR_031038 p.Ala134Thr Polymorphism rs2072443 - TMEM176B Q3YBM2 VAR_031039 p.Arg180Trp Polymorphism rs17256042 - TMEM176B Q3YBM2 VAR_057766 p.Gly40Glu Polymorphism rs10240587 - TMEM177 Q53S58 VAR_031421 p.Gly29Ala Polymorphism rs11684353 - TMEM177 Q53S58 VAR_031422 p.Ile32Val Polymorphism rs13011768 - TMEM177 Q53S58 VAR_031423 p.Asp267Glu Polymorphism rs1983406 - TMEM178A Q8NBL3 VAR_032296 p.Leu107Val Polymorphism rs17852679 - TMEM17 Q86X19 VAR_028864 p.Gly26Ser Polymorphism rs17854454 - TMEM182 Q6ZP80 VAR_032773 p.Trp223Arg Polymorphism rs887987 - TMEM183A Q8IXX5 VAR_023205 p.Arg10Met Polymorphism rs11558253 - TMEM183A Q8IXX5 VAR_023206 p.Ala80Thr Polymorphism rs6678040 - TMEM183B Q1AE95 VAR_030867 p.Met193Val Polymorphism rs7630407 - TMEM184A Q6ZMB5 VAR_060120 p.Ser390Gly Polymorphism rs3779607 - TMEM184A Q6ZMB5 VAR_062157 p.Ala18Val Polymorphism rs17852421 - TMEM185A Q8NFB2 VAR_033922 p.Met179Val Polymorphism rs396058 - TMEM185A Q8NFB2 VAR_033923 p.Cys243Ser Polymorphism rs609828 - TMEM187 Q14656 VAR_051431 p.Ser70Leu Polymorphism rs2266890 - TMEM187 Q14656 VAR_051432 p.Met78Val Polymorphism rs7350355 - TMEM187 Q14656 VAR_051433 p.Arg138Gln Polymorphism rs36085378 - TMEM189 A5PLL7 VAR_059732 p.Trp7Gly Polymorphism rs2026757 - TMEM194A O14524 VAR_057817 p.Ile217Val Polymorphism rs17546579 - TMEM199 Q8N511 VAR_033749 p.Val158Ile Polymorphism rs12572 - TMEM199 Q8N511 VAR_033750 p.Leu166Val Polymorphism rs36106147 - TMEM202 A6NGA9 VAR_051434 p.Met204Leu Polymorphism rs16956904 - TMEM204 Q9BSN7 VAR_051435 p.Gly57Ala Polymorphism rs1057612 - TMEM206 Q9H813 VAR_035847 p.Lys336Asn Unclassified - A breast cancer sample TMEM207 Q6UWW9 VAR_051436 p.Leu57Val Polymorphism rs35161724 - TMEM208 Q9BTX3 VAR_039958 p.Asp82Tyr Polymorphism rs17851038 - TMEM208 Q9BTX3 VAR_053933 p.Leu102Pro Polymorphism rs11553801 - TMEM209 Q96SK2 VAR_042918 p.Pro469Arg Polymorphism rs17857472 - TMEM209 Q96SK2 VAR_042919 p.His505Arg Polymorphism rs17854938 - TMEM214 Q6NUQ4 VAR_039370 p.Val351Met Polymorphism rs1124649 - TMEM216 Q9P0N5 VAR_063388 p.Arg73Leu Disease - Joubert syndrome type 2 (JBTS2) [MIM:608091] TMEM216 Q9P0N5 VAR_064028 p.Arg73Cys Disease - Joubert syndrome type 2 (JBTS2) [MIM:608091] TMEM216 Q9P0N5 VAR_064029 p.Arg73His Disease - Joubert syndrome type 2 (JBTS2) [MIM:608091] TMEM216 Q9P0N5 VAR_064029 p.Arg73His Disease - Meckel syndrome type 2 (MKS2) [MIM:603194] TMEM216 Q9P0N5 VAR_064030 p.Gly77Ala Disease - Meckel syndrome type 2 (MKS2) [MIM:603194] TMEM216 Q9P0N5 VAR_064031 p.Leu114Arg Disease - Meckel syndrome type 2 (MKS2) [MIM:603194] TMEM223 A0PJW6 VAR_039357 p.Thr28Ala Polymorphism rs2584918 - TMEM223 A0PJW6 VAR_039358 p.Val196Gly Polymorphism rs11827177 - TMEM225 Q6GV28 VAR_051260 p.Cys196Arg Polymorphism rs1939927 - TMEM225 Q6GV28 VAR_061690 p.Asn134Ser Polymorphism rs10893099 - TMEM231 Q9H6L2 VAR_038543 p.Leu6Val Polymorphism - - TMEM241 Q24JQ0 VAR_035406 p.Leu131Phe Polymorphism rs8099409 - TMEM244 Q5VVB8 VAR_026549 p.Phe80Leu Polymorphism rs4629709 - TMEM244 Q5VVB8 VAR_026550 p.Glu86Gly Polymorphism rs9492393 - TMEM244 Q5VVB8 VAR_026551 p.Phe111Val Polymorphism rs7776426 - TMEM244 Q5VVB8 VAR_033681 p.Asn60Ile Polymorphism rs7760577 - TMEM245 Q9H330 VAR_056815 p.Ala314Thr Polymorphism rs2271877 - TMEM245 Q9H330 VAR_056816 p.Thr787Ala Polymorphism rs3750455 - TMEM245 Q9H330 VAR_059604 p.Asp9Glu Polymorphism rs12001627 - TMEM255A Q5JRV8 VAR_029637 p.Pro345Gln Polymorphism rs17854410 - TMEM257 O96002 VAR_033766 p.Ser36Ala Polymorphism rs3752359 - TMEM25 Q86YD3 VAR_021391 p.Gln342Arg Polymorphism rs12289253 - TMEM25 Q86YD3 VAR_033623 p.Trp25Cys Polymorphism rs35915434 - TMEM2 Q9UHN6 VAR_032669 p.Arg245Lys Polymorphism rs25688 - TMEM2 Q9UHN6 VAR_032670 p.Arg291His Polymorphism rs25689 - TMEM2 Q9UHN6 VAR_032671 p.Asp423Glu Polymorphism rs25695 - TMEM2 Q9UHN6 VAR_032672 p.Pro765Ser Polymorphism rs25692 - TMEM2 Q9UHN6 VAR_032673 p.Ile1010Val Polymorphism rs17057133 - TMEM2 Q9UHN6 VAR_032674 p.Ser1254Asn Polymorphism rs2297089 - TMEM2 Q9UHN6 VAR_032675 p.Gly1280Asp Polymorphism rs17475375 - TMEM2 Q9UHN6 VAR_062197 p.Arg291Leu Polymorphism rs25689 - TMEM2 Q9UHN6 VAR_062198 p.Arg291Pro Polymorphism rs25689 - TMEM38B Q9NVV0 VAR_032811 p.Cys254Ser Polymorphism rs35232724 - TMEM39A Q9NV64 VAR_030871 p.Ala487Thr Polymorphism rs1132200 - TMEM39A Q9NV64 VAR_036095 p.Ser247Leu Unclassified - A breast cancer sample TMEM43 Q9BTV4 VAR_031751 p.Lys168Asn Polymorphism rs4685076 - TMEM43 Q9BTV4 VAR_031752 p.Met179Thr Polymorphism rs2340917 - TMEM43 Q9BTV4 VAR_031753 p.Tyr233Cys Polymorphism rs35924492 - TMEM43 Q9BTV4 VAR_031754 p.Ala318Val Polymorphism rs11924644 - TMEM43 Q9BTV4 VAR_044438 p.Ser358Leu Disease - Familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5) [MIM:604400] TMEM44 Q2T9K0 VAR_031775 p.His24Asn Polymorphism rs1675955 - TMEM45B Q96B21 VAR_029866 p.Thr59Ile Polymorphism rs558813 - TMEM48 Q9BTX1 VAR_026388 p.Gly154Asp Polymorphism rs17849721 - TMEM50A O95807 VAR_007851 p.Phe141Leu Polymorphism - - TMEM50A O95807 VAR_013121 p.Ala58Val Polymorphism rs3093647 - TMEM51 Q9NW97 VAR_051446 p.Val34Ala Polymorphism rs17405421 - TMEM51 Q9NW97 VAR_051447 p.Arg92Gln Polymorphism rs3766158 - TMEM52 Q8NDY8 VAR_031653 p.Met141Thr Polymorphism rs28640257 - TMEM52 Q8NDY8 VAR_051448 p.Met141Val Polymorphism rs4459050 - TMEM54 Q969K7 VAR_052342 p.Leu110Phe Polymorphism rs10914632 - TMEM59 Q9BXS4 VAR_063397 p.Ala46Val Polymorphism rs41294776 - TMEM60 Q9H2L4 VAR_051449 p.Val42Gly Polymorphism rs34580932 - TMEM61 Q8N0U2 VAR_028820 p.Glu40Lys Polymorphism rs3737832 - TMEM63A O94886 VAR_031191 p.Val622Met Polymorphism rs1009668 - TMEM63A O94886 VAR_061813 p.Phe121Ile Polymorphism rs57306966 - TMEM63B Q5T3F8 VAR_031192 p.Val307Met Polymorphism rs4714759 - TMEM63C Q9P1W3 VAR_031193 p.Met654Val Polymorphism rs2287384 - TMEM65 Q6PI78 VAR_060384 p.Ile97Val Polymorphism rs17854113 - TMEM66 Q96BY9 VAR_054042 p.Pro78Thr Polymorphism rs11538828 - TMEM67 Q5HYA8 VAR_025474 p.Gln376Pro Disease - Meckel syndrome type 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_025475 p.Ile604Val Polymorphism rs3134031 - TMEM67 Q5HYA8 VAR_031987 p.Tyr513Cys Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_031987 p.Tyr513Cys Disease - Joubert syndrome type 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_031987 p.Tyr513Cys Disease - Meckel syndrome type 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_031988 p.Gly545Glu Disease - Joubert syndrome type 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_062310 p.Tyr54Cys Disease - Meckel syndrome type 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062311 p.Gly218Ala Polymorphism - - TMEM67 Q5HYA8 VAR_062312 p.Ser245Phe Disease - Meckel syndrome type 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062313 p.Met252Thr Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_062313 p.Met252Thr Disease - Meckel syndrome type 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062314 p.Asp261Asn Polymorphism - - TMEM67 Q5HYA8 VAR_062315 p.Trp296Cys Disease - Meckel syndrome type 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062316 p.Ser320Cys Polymorphism rs111619594 - TMEM67 Q5HYA8 VAR_062317 p.Leu437Val Polymorphism - - TMEM67 Q5HYA8 VAR_062318 p.Arg440Gln Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_062318 p.Arg440Gln Disease - Meckel syndrome type 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062319 p.Cys615Arg Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_062319 p.Cys615Arg Disease - Meckel syndrome type 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_062319 p.Cys615Arg Disease - Nephronophthisis type 11 (NPHP11) [MIM:613550] TMEM67 Q5HYA8 VAR_062320 p.Leu966Pro Disease - Meckel syndrome type 3 (MKS3) [MIM:607361] TMEM67 Q5HYA8 VAR_063783 p.Pro82Arg Unclassified - - TMEM67 Q5HYA8 VAR_063784 p.Pro82Ser Unclassified - - TMEM67 Q5HYA8 VAR_063785 p.Lys99Asn Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063786 p.Pro130Arg Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063787 p.Arg172Gln Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063788 p.Asn242Thr Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063789 p.Met257Val Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063790 p.Leu349Ser Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063791 p.Pro358Leu Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063791 p.Pro358Leu Disease - Joubert syndrome type 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_063792 p.Thr372Lys Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063793 p.Gln376Glu Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063794 p.Arg441Cys Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063795 p.Pro485Ser Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063796 p.Phe590Ser Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063797 p.Phe637Leu Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063798 p.Ser728Gly Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063799 p.His782Arg Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063800 p.Arg820Ser Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063801 p.Ile833Thr Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063801 p.Ile833Thr Disease - Joubert syndrome type 6 (JBTS6) [MIM:610688] TMEM67 Q5HYA8 VAR_063802 p.Gln841Pro Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_063803 p.Phe942Cys Disease - COACH syndrome (COACHS) [MIM:216360] TMEM67 Q5HYA8 VAR_064185 p.Trp290Leu Disease - Nephronophthisis type 11 (NPHP11) [MIM:613550] TMEM67 Q5HYA8 VAR_064186 p.Gly821Arg Disease - Nephronophthisis type 11 (NPHP11) [MIM:613550] TMEM67 Q5HYA8 VAR_064187 p.Gly821Ser Disease - Nephronophthisis type 11 (NPHP11) [MIM:613550] TMEM70 Q9BUB7 VAR_027686 p.Ala34Pro Polymorphism rs8075 - TMEM70 Q9BUB7 VAR_027687 p.Thr250Ala Polymorphism rs1053079 - TMEM70 Q9BUB7 VAR_027688 p.Asp259Glu Polymorphism rs1053077 - TMEM70 Q9BUB7 VAR_034565 p.Asn228Lys Polymorphism rs35564486 - TMEM74B Q9NUR3 VAR_033757 p.Leu33Met Polymorphism rs35393697 - TMEM79 Q9BSE2 VAR_028815 p.Val147Met Polymorphism rs6684514 - TMEM81 Q6P7N7 VAR_032353 p.Arg77Gln Polymorphism rs4951168 - TMEM81 Q6P7N7 VAR_032354 p.Phe100Ser Polymorphism rs16855059 - TMEM82 A0PJX8 VAR_036917 p.Arg284His Polymorphism rs11580250 - TMEM86A Q8N2M4 VAR_034564 p.Val215Ala Polymorphism rs7945285 - TMEM86B Q8N661 VAR_052343 p.Ala176Thr Polymorphism rs35608872 - TMEM86B Q8N661 VAR_052344 p.His199Arg Polymorphism rs4644955 - TMEM88 Q6PEY1 VAR_027702 p.Leu44Phe Polymorphism rs2270518 - TMEM89 A2RUT3 VAR_051450 p.Pro61Thr Polymorphism rs9834639 - TMEM8A Q9HCN3 VAR_025307 p.Thr136Ala Polymorphism rs11248931 - TMEM8A Q9HCN3 VAR_025308 p.Ile310Val Polymorphism rs2071915 - TMEM8A Q9HCN3 VAR_057810 p.Arg567Trp Polymorphism rs3743887 - TMEM92 Q6UXU6 VAR_027703 p.Ser90Thr Polymorphism rs6504642 - TMEM92 Q6UXU6 VAR_027704 p.Ser90Asn Polymorphism rs6504642 - TMEM92 Q6UXU6 VAR_061715 p.Ala4Thr Polymorphism rs9894445 - TMEM98 Q9Y2Y6 VAR_051451 p.Trp83Arg Polymorphism rs35124349 - TMEM99 Q8N816 VAR_028835 p.Ile4Met Polymorphism rs17474506 - TMEM99 Q8N816 VAR_028836 p.Tyr79His Polymorphism rs10558 - TMEM99 Q8N816 VAR_028837 p.Leu95Arg Polymorphism rs1044806 - TMF1 P82094 VAR_024284 p.Asp798His Polymorphism rs1532918 - TMF1 P82094 VAR_051439 p.Gln430Glu Polymorphism rs35447207 - TMF1 P82094 VAR_051440 p.Cys448Tyr Polymorphism rs34428015 - TMF1 P82094 VAR_051441 p.Gln682Arg Polymorphism rs3736422 - TMIE Q8NEW7 VAR_021524 p.Arg81Cys Disease rs28942096 Deafness autosomal recessive type 6 (DFNB6) [MIM:600971] TMIE Q8NEW7 VAR_021525 p.Arg84Trp Disease rs28942097 Deafness autosomal recessive type 6 (DFNB6) [MIM:600971] TMIE Q8NEW7 VAR_021526 p.Arg92Trp Disease rs28941781 Deafness autosomal recessive type 6 (DFNB6) [MIM:600971] TMIGD2 Q96BF3 VAR_030469 p.Ala202Pro Polymorphism rs28477168 - TMIGD2 Q96BF3 VAR_061328 p.Trp168Leu Polymorphism rs58237134 - TMOD2 Q9NZR1 VAR_052399 p.Pro63Ala Polymorphism rs34791185 - TMOD4 Q9NZQ9 VAR_052400 p.Asn336Ser Polymorphism rs11800088 - TMPO P42166 VAR_005635 p.Gln599Glu Polymorphism rs17459334 - TMPO P42166 VAR_049773 p.Leu238Arg Polymorphism rs35998138 - TMPO P42166 VAR_049774 p.Ser293Ala Polymorphism rs35645287 - TMPO P42166 VAR_049775 p.Thr317Ser Polymorphism rs35969221 - TMPO P42166 VAR_049776 p.Lys416Glu Polymorphism rs11838270 - TMPO P42166 VAR_049777 p.Lys478Asn Polymorphism rs35761089 - TMPO P42166 VAR_049778 p.Arg690Cys Disease rs17028450 Cardiomyopathy dilated type 1T (CMD1T) [MIM:613740] TMPO P42167 VAR_014786 p.Leu427Phe Polymorphism rs1058288 - TMPO P42167 VAR_049779 p.Ala287Pro Polymorphism rs7133258 - TMPRSS11A Q6ZMR5 VAR_034797 p.Arg293Gln Polymorphism rs353163 - TMPRSS11B Q86T26 VAR_034798 p.Ile242Val Polymorphism rs12331141 - TMPRSS11B Q86T26 VAR_034799 p.Thr348Ser Polymorphism rs2319797 - TMPRSS11B Q86T26 VAR_047675 p.Asp325Ala Polymorphism rs2319796 - TMPRSS11E Q9UL52 VAR_051847 p.Tyr303Cys Polymorphism rs976002 - TMPRSS11F Q6ZWK6 VAR_034800 p.Ala4Thr Polymorphism rs10030708 - TMPRSS11F Q6ZWK6 VAR_046636 p.Asp124Asn Polymorphism rs1438391 - TMPRSS12 Q86WS5 VAR_051848 p.Tyr19His Polymorphism rs10876100 - TMPRSS12 Q86WS5 VAR_051849 p.Glu62Lys Polymorphism rs829121 - TMPRSS12 Q86WS5 VAR_051850 p.Ala127Thr Polymorphism rs861204 - TMPRSS15 P98073 VAR_020175 p.Glu641Lys Polymorphism rs2273204 - TMPRSS15 P98073 VAR_021940 p.Lys77Arg Polymorphism rs2824804 - TMPRSS15 P98073 VAR_024292 p.Asn660His Polymorphism rs11088674 - TMPRSS15 P98073 VAR_031686 p.Thr65Ile Polymorphism rs35987974 - TMPRSS15 P98073 VAR_031687 p.Glu134Gln Polymorphism rs2824790 - TMPRSS15 P98073 VAR_031688 p.Ser545Cys Polymorphism rs8134187 - TMPRSS15 P98073 VAR_031689 p.Pro732Ser Polymorphism rs2824721 - TMPRSS15 P98073 VAR_031690 p.Tyr828Cys Polymorphism rs8130110 - TMPRSS2 O15393 VAR_011692 p.Lys449Asn Polymorphism rs1056602 - TMPRSS2 O15393 VAR_027674 p.Val160Met Polymorphism rs12329760 - TMPRSS2 O15393 VAR_038002 p.Ser254Cys Polymorphism - - TMPRSS2 O15393 VAR_038003 p.Glu329Gln Polymorphism - - TMPRSS2 O15393 VAR_038004 p.Asp491Asn Polymorphism - - TMPRSS3 P57727 VAR_010781 p.Val53Ile Polymorphism rs928302 - TMPRSS3 P57727 VAR_011678 p.Trp251Cys Unclassified - - TMPRSS3 P57727 VAR_011679 p.Pro404Leu Unclassified - - TMPRSS3 P57727 VAR_013101 p.Ile253Val Polymorphism rs2839500 - TMPRSS3 P57727 VAR_013490 p.Asp103Gly Unclassified - - TMPRSS3 P57727 VAR_013491 p.Arg109Trp Unclassified - - TMPRSS3 P57727 VAR_013492 p.Gly111Ser Polymorphism rs35227181 - TMPRSS3 P57727 VAR_013493 p.Asp173Asn Polymorphism - - TMPRSS3 P57727 VAR_013494 p.Cys194Phe Unclassified - - TMPRSS3 P57727 VAR_013495 p.Cys407Arg Unclassified - - TMPRSS3 P57727 VAR_013496 p.Ala426Thr Polymorphism rs56264519 - TMPRSS3 P57727 VAR_025354 p.Arg216Leu Unclassified - - TMPRSS4 Q9NRS4 VAR_024293 p.Arg177Gln Polymorphism rs1894176 - TMPRSS4 Q9NRS4 VAR_046505 p.Lys198Glu Polymorphism rs12270001 - TMPRSS4 Q9NRS4 VAR_046506 p.Val208Gly Polymorphism rs1941635 - TMPRSS5 Q9H3S3 VAR_038005 p.Asp31Val Unclassified - - TMPRSS5 Q9H3S3 VAR_038006 p.Arg46Gln Polymorphism rs11601425 - TMPRSS5 Q9H3S3 VAR_038007 p.Val125Met Polymorphism rs7939917 - TMPRSS5 Q9H3S3 VAR_038008 p.Ala249Val Polymorphism - - TMPRSS5 Q9H3S3 VAR_038009 p.Ala317Ser Unclassified - - TMPRSS5 Q9H3S3 VAR_038010 p.Pro337Ser Polymorphism - - TMPRSS5 Q9H3S3 VAR_038011 p.Phe369Leu Polymorphism rs7110736 - TMPRSS6 Q8IU80 VAR_036296 p.Arg223His Unclassified - A breast cancer sample TMPRSS6 Q8IU80 VAR_036297 p.Arg234Ser Unclassified - A breast cancer sample TMPRSS6 Q8IU80 VAR_044434 p.Glu262Lys Polymorphism rs2235324 - TMPRSS6 Q8IU80 VAR_044435 p.Gly442Arg Disease - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_044436 p.Asp521Asn Disease - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_044437 p.Arg774Cys Disease - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_051841 p.Lys253Glu Polymorphism rs2235324 - TMPRSS6 Q8IU80 VAR_051842 p.Ser288Leu Polymorphism rs5995378 - TMPRSS6 Q8IU80 VAR_051843 p.Val736Ala Polymorphism rs855791 - TMPRSS6 Q8IU80 VAR_051844 p.Gly763Asp Polymorphism rs11703011 - TMPRSS6 Q8IU80 VAR_064075 p.Tyr141Cys Disease - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_064076 p.Ile212Thr Disease - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_064077 p.Arg271Gln Disease - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_064078 p.Ser304Leu Disease - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS6 Q8IU80 VAR_064079 p.Cys510Ser Disease - Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] TMPRSS9 Q7Z410 VAR_021508 p.Ser30Thr Polymorphism rs891174 - TMPRSS9 Q7Z410 VAR_021509 p.Ser793Asn Polymorphism rs735911 - TMPRSS9 Q7Z410 VAR_021510 p.Glu938Lys Polymorphism rs7247162 - TMPRSS9 Q7Z410 VAR_033650 p.Arg73Trp Polymorphism rs17685098 - TMPRSS9 Q7Z410 VAR_051845 p.Thr4Ala Polymorphism rs8100709 - TMPRSS9 Q7Z410 VAR_051846 p.Ala456Thr Polymorphism rs10153474 - TMPRSS9 Q7Z410 VAR_061774 p.Ser659Thr Polymorphism rs60568869 - TMSB10 P63313 VAR_052304 p.Met7Arg Polymorphism rs1804515 - TMTC1 Q8IUR5 VAR_031112 p.Val814Leu Polymorphism rs17854190 - TMTC2 Q8N394 VAR_031113 p.Ala315Thr Polymorphism rs1201791 - TMTC2 Q8N394 VAR_031114 p.Tyr443Ser Polymorphism rs17010106 - TMTC2 Q8N394 VAR_053852 p.Asp741Tyr Polymorphism rs428398 - TMTC4 Q5T4D3 VAR_031117 p.Val286Met Polymorphism rs3809371 - TMTC4 Q5T4D3 VAR_031118 p.Val419Ile Polymorphism rs946837 - TMTC4 Q5T4D3 VAR_036455 p.Met655Val Unclassified - A breast cancer sample TMUB2 Q71RG4 VAR_052695 p.Arg228His Polymorphism rs9895154 - TMX3 Q96JJ7 VAR_022451 p.Pro61Ser Polymorphism rs11557684 - TMX4 Q9H1E5 VAR_052578 p.Tyr215Cys Polymorphism rs1135711 - TMX4 Q9H1E5 VAR_052579 p.Gly303Arg Polymorphism rs2076015 - TNC P24821 VAR_014665 p.Glu2008Gln Polymorphism rs13321 - TNC P24821 VAR_020169 p.Ala1781Thr Polymorphism rs2274750 - TNC P24821 VAR_024266 p.Gln539Arg Polymorphism rs1757095 - TNC P24821 VAR_024267 p.Val605Ile Polymorphism rs3827816 - TNC P24821 VAR_024268 p.Gln680Arg Polymorphism rs1061494 - TNC P24821 VAR_055778 p.Gly213Ser Polymorphism rs7020958 - TNC P24821 VAR_055779 p.Asp850His Polymorphism rs3748169 - TNC P24821 VAR_060738 p.Ile1677Leu Polymorphism rs2104772 - TNFAIP2 Q03169 VAR_020772 p.Gln282Glu Polymorphism rs1132339 - TNFAIP2 Q03169 VAR_020773 p.Thr565Ile Polymorphism rs2229727 - TNFAIP2 Q03169 VAR_020774 p.Thr580Met Polymorphism rs2234146 - TNFAIP3 P21580 VAR_020447 p.Ala125Val Polymorphism rs5029941 - TNFAIP3 P21580 VAR_022143 p.Phe127Cys Polymorphism rs2230926 - TNFAIP3 P21580 VAR_029319 p.Ala766Pro Polymorphism rs5029957 - TNFAIP6 P98066 VAR_013005 p.Gln144Arg Polymorphism rs1046668 - TNFAIP8L1 Q8WVP5 VAR_032048 p.Ala118Val Polymorphism rs17851549 - TNFAIP8L3 Q5GJ75 VAR_042860 p.Ala38Thr Polymorphism rs17647084 - TNFAIP8 O95379 VAR_032047 p.Ser151Cys Polymorphism rs3203922 - TNF P01375 VAR_011927 p.Ala94Thr Polymorphism rs1800620 - TNF P01375 VAR_019378 p.Pro84Leu Polymorphism rs4645843 - TNFRSF10A O00220 VAR_016149 p.Thr33Ile Polymorphism rs20577 - TNFRSF10A O00220 VAR_016150 p.His141Arg Polymorphism rs6557634 - TNFRSF10A O00220 VAR_016151 p.Arg209Thr Polymorphism rs20575 - TNFRSF10A O00220 VAR_016152 p.Glu228Ala Polymorphism rs20576 - TNFRSF10A O00220 VAR_052349 p.Gly11Val Polymorphism rs34737614 - TNFRSF10A O00220 VAR_052350 p.Pro105Arg Polymorphism rs11986840 - TNFRSF10A O00220 VAR_052351 p.Asn297His Polymorphism rs17088980 - TNFRSF10A O00220 VAR_052352 p.Arg441Lys Polymorphism rs2230229 - TNFRSF10B O14763 VAR_016153 p.Pro32Leu Polymorphism rs1129424 - TNFRSF10B O14763 VAR_016154 p.Ala67Val Polymorphism rs1047266 - TNFRSF10B O14763 VAR_059831 p.Val191Ala Polymorphism rs13265018 - TNFRSF10C O14798 VAR_046534 p.Thr199Asn Polymorphism rs12550828 - TNFRSF10C O14798 VAR_046535 p.Ile229Thr Polymorphism rs9644063 - TNFRSF10D Q9UBN6 VAR_011417 p.Pro35Ser Polymorphism rs11135703 - TNFRSF10D Q9UBN6 VAR_011418 p.Ser310Leu Polymorphism rs1133782 - TNFRSF10D Q9UBN6 VAR_057288 p.Thr345Pro Polymorphism rs34622674 - TNFRSF10D Q9UBN6 VAR_061854 p.Arg276His Polymorphism rs55636833 - TNFRSF11A Q9Y6Q6 VAR_011518 p.Ala192Val Polymorphism rs1805034 - TNFRSF11A Q9Y6Q6 VAR_046788 p.Gly53Arg Disease - Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] TNFRSF11A Q9Y6Q6 VAR_046789 p.Arg129Cys Disease - Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] TNFRSF11A Q9Y6Q6 VAR_046790 p.His141Tyr Polymorphism rs35211496 - TNFRSF11A Q9Y6Q6 VAR_046791 p.Arg170Gly Disease - Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] TNFRSF11A Q9Y6Q6 VAR_046792 p.Cys175Arg Disease - Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] TNFRSF11A Q9Y6Q6 VAR_046793 p.Ala244Ser Disease - Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] TNFRSF11B O00300 VAR_013439 p.Asn3Lys Polymorphism rs2073618 - TNFRSF11B O00300 VAR_018957 p.Val104Met Polymorphism rs11573906 - TNFRSF13B O14836 VAR_024027 p.Cys104Arg Disease rs34557412 Immunodeficiency common variable type 2 (CVID2) [MIM:240500] TNFRSF13B O14836 VAR_024027 p.Cys104Arg Disease rs34557412 Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529] TNFRSF13B O14836 VAR_024028 p.Ala181Gly Disease - Immunodeficiency common variable type 2 (CVID2) [MIM:240500] TNFRSF13B O14836 VAR_024029 p.Arg202His Disease - Immunodeficiency common variable type 2 (CVID2) [MIM:240500] TNFRSF13B O14836 VAR_052353 p.Pro251Leu Polymorphism rs34562254 - TNFRSF13B O14836 VAR_064758 p.His56Asn Unclassified - - TNFRSF13C Q96RJ3 VAR_063888 p.Gly64Val Polymorphism - - TNFRSF13C Q96RJ3 VAR_063890 p.His159Tyr Polymorphism - - TNFRSF14 Q92956 VAR_013007 p.Lys17Arg Polymorphism rs4870 - TNFRSF14 Q92956 VAR_013440 p.Val241Ile Polymorphism rs2234167 - TNFRSF14 Q92956 VAR_018955 p.Ala117Thr Polymorphism rs2234163 - TNFRSF14 Q92956 VAR_018956 p.Gly174Glu Polymorphism rs11573986 - TNFRSF17 Q02223 VAR_012234 p.Ala153Thr Polymorphism - - TNFRSF17 Q02223 VAR_018755 p.Ala54Val Polymorphism rs11570146 - TNFRSF17 Q02223 VAR_018756 p.Ile65Val Polymorphism rs11570147 - TNFRSF17 Q02223 VAR_018757 p.Phe75Val Polymorphism rs11570148 - TNFRSF17 Q02223 VAR_018758 p.Asn81Ser Polymorphism rs373496 - TNFRSF17 Q02223 VAR_018759 p.Cys165Ser Polymorphism rs11570159 - TNFRSF17 Q02223 VAR_061855 p.Glu176Asp Polymorphism rs34546237 - TNFRSF18 Q9Y5U5 VAR_052354 p.Thr43Arg Polymorphism rs11466676 - TNFRSF18 Q9Y5U5 VAR_052355 p.Glu64Lys Polymorphism rs11466687 - TNFRSF18 Q9Y5U5 VAR_052356 p.Asp83Asn Polymorphism rs11466688 - TNFRSF18 Q9Y5U5 VAR_052357 p.Val173Met Polymorphism rs11466693 - TNFRSF19 Q9NS68 VAR_024278 p.Ser31Thr Polymorphism rs9550987 - TNFRSF19 Q9NS68 VAR_024279 p.Val405Ile Polymorphism rs3751362 - TNFRSF1A P19438 VAR_011813 p.Pro305Thr Polymorphism rs1804532 - TNFRSF1A P19438 VAR_013410 p.Cys59Arg Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_013411 p.Cys62Tyr Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_013412 p.Thr79Met Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_013413 p.Cys81Phe Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_013414 p.Cys117Arg Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_013415 p.Cys117Tyr Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_019302 p.Cys59Ser Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_019303 p.Cys62Gly Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_019304 p.Cys99Ser Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_019305 p.Arg121Pro Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_019329 p.His51Gln Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_019330 p.Pro75Leu Disease rs4149637 Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_019331 p.Ser115Gly Disease - Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A P19438 VAR_019332 p.Arg121Gln Disease rs4149584 Familial hibernian fever (FHF) [MIM:142680] TNFRSF1B P20333 VAR_015434 p.Met196Arg Polymorphism rs1061622 - TNFRSF1B P20333 VAR_015435 p.Glu232Lys Polymorphism rs5746026 - TNFRSF1B P20333 VAR_017176 p.Val187Met Polymorphism rs2228494 - TNFRSF1B P20333 VAR_017177 p.Ala236Thr Polymorphism rs5746027 - TNFRSF1B P20333 VAR_017178 p.Leu264Pro Polymorphism rs2229700 - TNFRSF1B P20333 VAR_017179 p.Thr269Pro Polymorphism rs17879042 - TNFRSF1B P20333 VAR_017180 p.Gln295Arg Polymorphism rs5746032 - TNFRSF1B P20333 VAR_017181 p.Pro301Arg Polymorphism rs17883432 - TNFRSF25 Q93038 VAR_011814 p.Arg370Leu Polymorphism rs1064590 - TNFRSF25 Q93038 VAR_011815 p.Arg381His Polymorphism rs1059333 - TNFRSF25 Q93038 VAR_018826 p.Arg23Gln Polymorphism rs35771371 - TNFRSF25 Q93038 VAR_018827 p.Asp159Gly Polymorphism rs11800462 - TNFRSF25 Q93038 VAR_018828 p.Pro254Arg Polymorphism rs34529016 - TNFRSF4 P43489 VAR_025164 p.Arg10Cys Polymorphism rs35304565 - TNFRSF8 P28908 VAR_018753 p.Cys273Tyr Polymorphism - - TNFRSF8 P28908 VAR_018754 p.Ser402Gly Polymorphism rs2230625 - TNFRSF8 P28908 VAR_054213 p.Cys273Phe Polymorphism rs2230624 - TNFRSF8 P28908 VAR_055257 p.Cys297Arg Polymorphism rs1763642 - TNFRSF8 P28908 VAR_055258 p.Pro314Ser Polymorphism rs2275170 - TNFRSF8 P28908 VAR_055259 p.Gln466Arg Polymorphism rs35511003 - TNFRSF9 Q07011 VAR_018920 p.Ala56Thr Polymorphism rs9657963 - TNFRSF9 Q07011 VAR_018921 p.Lys115Asn Polymorphism rs9657965 - TNFRSF9 Q07011 VAR_018922 p.Ala176Asp Polymorphism rs9657979 - TNFRSF9 Q07011 VAR_035478 p.Glu250Gly Unclassified - A colorectal cancer sample TNFSF10 P50591 VAR_052584 p.Val33Ile Polymorphism rs6763816 - TNFSF10 P50591 VAR_052585 p.Asp47Glu Polymorphism rs16845759 - TNFSF11 O14788 VAR_037424 p.Met199Lys Disease - Osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710] TNFSF13B Q9Y275 VAR_013483 p.Ala105Thr Polymorphism - - TNFSF13 O75888 VAR_052586 p.Gly67Arg Polymorphism rs11552708 - TNFSF13 O75888 VAR_052587 p.Asn96Ser Polymorphism rs3803800 - TNFSF14 O43557 VAR_027677 p.Ser32Leu Polymorphism rs2291667 - TNFSF14 O43557 VAR_027678 p.Leu120Val Polymorphism rs17851606 - TNFSF14 O43557 VAR_027679 p.Lys214Glu Polymorphism rs344560 - TNFSF15 O95150 VAR_043130 p.Phe110Leu Polymorphism rs16931745 - TNFSF9 P41273 VAR_011928 p.Pro17Ala Polymorphism rs442511 - TNIK Q9UKE5 VAR_041231 p.Lys778Glu Polymorphism rs55778284 - TNIK Q9UKE5 VAR_041232 p.Gly910Glu Polymorphism rs35090763 - TNIK Q9UKE5 VAR_041233 p.Ala999Thr Polymorphism rs17857452 - TNIP1 Q15025 VAR_051453 p.Pro103Ser Polymorphism rs2303018 - TNIP1 Q15025 VAR_051454 p.Ala146Val Polymorphism rs2233289 - TNIP1 Q15025 VAR_051455 p.Pro151Ala Polymorphism rs2233290 - TNIP1 Q15025 VAR_051456 p.Arg233Gln Polymorphism rs2233292 - TNIP1 Q15025 VAR_051457 p.Ala260Val Polymorphism rs2233295 - TNIP2 Q8NFZ5 VAR_039463 p.Ala396Val Polymorphism rs2269495 - TNIP3 Q96KP6 VAR_057006 p.Lys99Glu Polymorphism rs10000692 - TNK1 Q13470 VAR_041863 p.Val278Ile Polymorphism rs55939858 - TNK1 Q13470 VAR_041864 p.Arg339Lys Unclassified - A lung adenocarcinoma sample TNK1 Q13470 VAR_041865 p.Thr514Lys Polymorphism - - TNK1 Q13470 VAR_041866 p.Arg539Cys Polymorphism - - TNK1 Q13470 VAR_041867 p.Ser546Cys Polymorphism - - TNK1 Q13470 VAR_041868 p.Val598Met Polymorphism - - TNK2 Q07912 VAR_032792 p.Arg34Leu Unclassified - A lung adenocarcinoma sample TNK2 Q07912 VAR_032793 p.Lys71Arg Polymorphism rs56036945 - TNK2 Q07912 VAR_032794 p.Arg99Gln Unclassified - An ovarian mucinous carcinoma sample TNK2 Q07912 VAR_032795 p.Arg99Trp Polymorphism rs3747673 - TNK2 Q07912 VAR_032796 p.Thr152Met Polymorphism rs56161912 - TNK2 Q07912 VAR_032797 p.Glu346Lys Unclassified - An ovarian endometrioid cancer sample TNK2 Q07912 VAR_032798 p.Met409Ile Unclassified - A gastric adenocarcinoma sample TNK2 Q07912 VAR_032799 p.Pro507Ser Polymorphism rs35759128 - TNK2 Q07912 VAR_032800 p.Pro725Leu Polymorphism rs56260729 - TNK2 Q07912 VAR_032801 p.Arg748Gln Polymorphism rs57872314 - TNK2 Q07912 VAR_032802 p.Arg1038His Polymorphism rs13433937 - TNK2 Q07912 VAR_057115 p.Pro802Leu Polymorphism rs3749333 - TNKS1BP1 Q9C0C2 VAR_028141 p.Thr322Ser Polymorphism rs4939134 - TNKS1BP1 Q9C0C2 VAR_032615 p.Ser714Asn Polymorphism rs34203865 - TNNC1 P63316 VAR_019776 p.Leu29Gln Disease - Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] TNNC1 P63316 VAR_043988 p.Gly159Arg Disease - Cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879] TNNC1 P63316 VAR_063070 p.Ala8Val Disease - Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] TNNC1 P63316 VAR_063071 p.Cys84Tyr Disease - Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] TNNC1 P63316 VAR_063072 p.Glu134Asp Disease - Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] TNNC1 P63316 VAR_063073 p.Asp145Glu Disease - Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] TNNI1 P19237 VAR_052403 p.Arg67Trp Polymorphism rs2296695 - TNNI2 P48788 VAR_016087 p.Arg174Gln Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] TNNI3K Q59H18 VAR_035639 p.Arg629Gly Unclassified - A colorectal cancer sample TNNI3K Q59H18 VAR_038821 p.Ala785Gly Polymorphism rs45578635 - TNNI3K Q59H18 VAR_038822 p.Asp833Tyr Polymorphism rs45614933 - TNNI3K Q59H18 VAR_041223 p.Asp151His Polymorphism rs34874695 - TNNI3K Q59H18 VAR_041224 p.Pro263Leu Polymorphism rs34521608 - TNNI3K Q59H18 VAR_041225 p.Phe309Leu Polymorphism - - TNNI3K Q59H18 VAR_041226 p.Ser430Leu Unclassified - A colorectal adenocarcinoma sample TNNI3K Q59H18 VAR_041227 p.Val510Leu Polymorphism rs34335537 - TNNI3K Q59H18 VAR_041228 p.Thr637Met Polymorphism rs2274260 - TNNI3K Q59H18 VAR_041229 p.Ile686Thr Polymorphism rs3737564 - TNNI3K Q59H18 VAR_041230 p.Met798Ile Unclassified - A head & Neck squamous cell carcinoma sample TNNI3 P19429 VAR_007603 p.Arg145Gly Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_007604 p.Lys206Gln Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_016078 p.Pro82Ser Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_016079 p.Leu144Gln Disease - Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016080 p.Arg145Trp Disease rs28934871 Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016081 p.Ala171Thr Disease - Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016082 p.Lys178Glu Disease rs28934870 Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016083 p.Asp190His Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_016083 p.Asp190His Disease - Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016084 p.Arg192His Disease - Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] TNNI3 P19429 VAR_016085 p.Asp196Asn Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_019872 p.Arg141Gln Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_019873 p.Ala157Val Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_019874 p.Arg162Pro Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_019876 p.Arg186Gln Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_029453 p.Arg79Cys Polymorphism rs3729712 - TNNI3 P19429 VAR_029454 p.Ser166Phe Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_042745 p.Arg162Gln Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_042746 p.Arg204His Disease - Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] TNNI3 P19429 VAR_043989 p.Ala2Val Disease - Cardiomyopathy dilated type 2A (CMD2A) [MIM:611880] TNNI3 P19429 VAR_063548 p.Lys36Gln Disease - Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286] TNNI3 P19429 VAR_063549 p.Asn185Lys Disease - Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286] TNN Q9UQP3 VAR_024269 p.Pro930Leu Polymorphism rs2285215 - TNN Q9UQP3 VAR_033832 p.Asp289Asn Polymorphism rs16847812 - TNN Q9UQP3 VAR_033833 p.Thr499Met Polymorphism rs17374761 - TNN Q9UQP3 VAR_033834 p.Trp807Arg Polymorphism rs6696455 - TNN Q9UQP3 VAR_033835 p.Thr941Met Polymorphism rs10798333 - TNN Q9UQP3 VAR_049007 p.Arg79Gly Polymorphism rs2072032 - TNN Q9UQP3 VAR_049008 p.Arg440Ser Polymorphism rs6664276 - TNN Q9UQP3 VAR_049009 p.Asp1135Glu Polymorphism rs10158841 - TNN Q9UQP3 VAR_049010 p.Ala1156Val Polymorphism rs2072036 - TNN Q9UQP3 VAR_059275 p.Met859Val Polymorphism rs6694078 - TNNT2 P45379 VAR_007605 p.Ile89Asn Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007606 p.Arg102Gln Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007607 p.Phe120Ile Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007609 p.Glu173Lys Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007610 p.Glu254Asp Disease rs45466197 Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007611 p.Lys263Arg Polymorphism - - TNNT2 P45379 VAR_007612 p.Arg288Cys Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_007613 p.Arg288Pro Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_009194 p.Arg104Leu Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_013021 p.Arg139Lys Polymorphism - - TNNT2 P45379 VAR_013022 p.Ser249Thr Polymorphism - - TNNT2 P45379 VAR_016195 p.Arg102Leu Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_016196 p.Arg102Trp Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_016197 p.Ala114Val Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_016198 p.Arg151Trp Disease - Cardiomyopathy dilated type 1D (CMD1D) [MIM:601494] TNNT2 P45379 VAR_016199 p.Ser189Phe Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_019877 p.Phe80Leu Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_019878 p.Phe120Val Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_019879 p.Asn281Ile Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_019880 p.Arg296Cys Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_029450 p.Arg140Lys Polymorphism rs2996496 - TNNT2 P45379 VAR_029451 p.Asn279Tyr Polymorphism rs4523540 - TNNT2 P45379 VAR_042747 p.Arg140Cys Disease - Familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195] TNNT2 P45379 VAR_042748 p.Ile221Thr Polymorphism rs45520032 - TNNT2 P45379 VAR_043983 p.Arg141Trp Disease - Cardiomyopathy dilated type 1D (CMD1D) [MIM:601494] TNNT2 P45379 VAR_043984 p.Arg215Leu Disease - Cardiomyopathy dilated type 1D (CMD1D) [MIM:601494] TNNT2 P45379 VAR_057310 p.Ile231Thr Polymorphism rs45520032 - TNNT3 P45378 VAR_026453 p.Arg74His Disease - Distal arthrogryposis type 2B (DA2B) [MIM:601680] TNP2 Q05952 VAR_052157 p.Arg131Trp Polymorphism rs11640138 - TNPO1 Q92973 VAR_014455 p.Asp34Glu Polymorphism rs25661 - TNRC18 O15417 VAR_042722 p.Ala1193Gly Polymorphism rs12671708 - TNRC6A Q8NDV7 VAR_057251 p.Asn185Lys Polymorphism rs11639856 - TNRC6A Q8NDV7 VAR_057252 p.Ala592Thr Polymorphism rs6497759 - TNRC6A Q8NDV7 VAR_057253 p.Pro788Ser Polymorphism rs3803716 - TNRC6A Q8NDV7 VAR_057254 p.Glu1268Lys Polymorphism rs2112782 - TNRC6B Q9UPQ9 VAR_051452 p.Ser517Cys Polymorphism rs17001767 - TNRC6C Q9HCJ0 VAR_052237 p.Pro820Arg Polymorphism rs34293811 - TNR Q92752 VAR_021479 p.Ile17Val Polymorphism rs859398 - TNR Q92752 VAR_021906 p.Ala128Ser Polymorphism rs2239819 - TNR Q92752 VAR_021907 p.Gly293Ser Polymorphism rs3752516 - TNR Q92752 VAR_030737 p.Arg643Lys Polymorphism rs859427 - TNR Q92752 VAR_055780 p.Ser302Asn Polymorphism rs35736986 - TNS1 Q9HBL0 VAR_047066 p.Ile311Met Polymorphism rs11680854 - TNS1 Q9HBL0 VAR_047067 p.Arg466Cys Polymorphism rs3815849 - TNS1 Q9HBL0 VAR_047068 p.Thr528Ile Polymorphism rs3796033 - TNS1 Q9HBL0 VAR_047069 p.Arg1004Trp Polymorphism rs3796028 - TNS1 Q9HBL0 VAR_047070 p.Trp1197Arg Polymorphism rs2571445 - TNS1 Q9HBL0 VAR_047071 p.Val1604Ile Polymorphism rs918949 - TNS1 Q9HBL0 VAR_048004 p.Phe1093Leu Unclassified - A breast cancer sample TNS3 Q68CZ2 VAR_034593 p.Gln600His Polymorphism rs2293362 - TNS3 Q68CZ2 VAR_034594 p.Gly679Ser Polymorphism rs7808646 - TNS3 Q68CZ2 VAR_052548 p.Glu1034Lys Polymorphism rs3807590 - TNS4 Q8IZW8 VAR_027264 p.Leu179Pro Polymorphism rs3764424 - TNS4 Q8IZW8 VAR_027265 p.Ser498Asn Polymorphism rs2290207 - TNS4 Q8IZW8 VAR_036515 p.Arg642Cys Unclassified - A colorectal cancer sample TNS4 Q8IZW8 VAR_055292 p.Thr327Lys Polymorphism rs33923045 - TNXB P22105 VAR_020170 p.Pro2363His Polymorphism rs2269428 - TNXB P22105 VAR_020171 p.Gly2555Ser Polymorphism rs2269429 - TNXB P22105 VAR_020172 p.Gly2578Glu Polymorphism rs1009382 - TNXB P22105 VAR_021908 p.Arg511His Polymorphism rs204896 - TNXB P22105 VAR_024270 p.His1248Arg Polymorphism rs185819 - TNXB P22105 VAR_044347 p.Thr302Ala Polymorphism rs1150752 - TNXB P22105 VAR_046499 p.Arg29Trp Unclassified - - TNXB P22105 VAR_046500 p.Val1195Met Unclassified - - TNXB P22105 VAR_046501 p.Leu4033Ile Polymorphism - - TNXB P22105 VAR_055781 p.Gly641Cys Polymorphism rs17201609 - TNXB P22105 VAR_055782 p.Arg650His Polymorphism rs17201602 - TNXB P22105 VAR_055783 p.Ser825Ala Polymorphism rs204900 - TNXB P22105 VAR_055784 p.Pro2425His Polymorphism rs2269428 - TNXB P22105 VAR_059276 p.Glu1987Lys Polymorphism rs17207923 - TNXB P22105 VAR_059277 p.Pro2472Leu Polymorphism rs12524664 - T O15178 VAR_020250 p.Asn369Ser Polymorphism rs3816300 - T O15178 VAR_021982 p.Gly177Asp Polymorphism rs2305089 - T O15178 VAR_024656 p.Gly356Ser Polymorphism rs3127328 - T O15178 VAR_032457 p.Val367Met Polymorphism rs35292451 - T O15178 VAR_032458 p.Glu402Lys Polymorphism rs34517945 - T O15178 VAR_063239 p.Val358Ile Polymorphism rs77703807 - TOB1 P50616 VAR_037840 p.Lys319Arg Polymorphism rs3316 - TOE1 Q96GM8 VAR_048752 p.Arg341His Polymorphism rs9429157 - TOE1 Q96GM8 VAR_061109 p.Glu381Lys Polymorphism rs61323219 - TOLLIP Q9H0E2 VAR_034557 p.Ala222Ser Polymorphism rs5744015 - TOM1L1 O75674 VAR_047469 p.Arg108Ser Polymorphism rs16955377 - TOM1 O60784 VAR_034567 p.Met264Val Polymorphism rs34371697 - TOM1 O60784 VAR_053845 p.Arg84His Polymorphism rs11558473 - TOMM20 Q15388 VAR_052366 p.Pro117Leu Polymorphism rs16991984 - TOMM20 Q15388 VAR_052367 p.Val134Leu Polymorphism rs1049510 - TOMM34 Q15785 VAR_059860 p.Arg293Lys Polymorphism rs6094061 - TOMM40L Q969M1 VAR_035815 p.Asp100Asn Unclassified - A colorectal cancer sample TONSL Q96HA7 VAR_042411 p.Val488Met Polymorphism rs2229314 - TONSL Q96HA7 VAR_042412 p.Gly493Ser Polymorphism rs2229315 - TONSL Q96HA7 VAR_042413 p.Ala714Val Polymorphism rs7830832 - TONSL Q96HA7 VAR_042414 p.Pro1276Leu Polymorphism rs4925856 - TOP1MT Q969P6 VAR_021863 p.Arg525Trp Polymorphism rs2293925 - TOP1MT Q969P6 VAR_052593 p.Val256Ile Polymorphism rs11544484 - TOP1 P11387 VAR_007530 p.Asp533Gly Unclassified - CPT-resistant leukemia TOP1 P11387 VAR_007531 p.Thr729Ala Unclassified - CPT-resistant lung cancer TOP1 P11387 VAR_010666 p.Met370Thr Unclassified - CPT-resistant leukemia TOP1 P11387 VAR_010667 p.Asn722Ser Unclassified - CPT-resistant leukemia TOP1 P11387 VAR_036555 p.Lys326Arg Unclassified - Breast cancer TOP1 P11387 VAR_052592 p.Gly214Ser Polymorphism rs6029542 - TOP2A P11388 VAR_007532 p.Arg450Gln Unclassified - - TOP2A P11388 VAR_007533 p.Arg487Lys Unclassified - - TOP2A P11388 VAR_029245 p.Thr1324Lys Polymorphism rs28969502 - TOP2A P11388 VAR_052594 p.Gly1386Asp Polymorphism rs34300454 - TOP2A P11388 VAR_052595 p.Ala1515Ser Polymorphism rs11540720 - TOP3A Q13472 VAR_007529 p.Cys596Tyr Polymorphism - - TOP3A Q13472 VAR_052588 p.Asp459Asn Polymorphism rs28671051 - TOP3A Q13472 VAR_052589 p.Asp742Asn Polymorphism rs9909732 - TOP3A Q13472 VAR_052590 p.Asn773Asp Polymorphism rs9911283 - TOP3B O95985 VAR_052591 p.Asp365Asn Polymorphism rs9610728 - TOPAZ1 Q8N9V7 VAR_039224 p.Cys43Arg Polymorphism rs9833423 - TOPAZ1 Q8N9V7 VAR_039225 p.Pro88Gln Polymorphism rs7645375 - TOPAZ1 Q8N9V7 VAR_039226 p.Val196Ile Polymorphism rs9284879 - TOPAZ1 Q8N9V7 VAR_039227 p.Gln483Arg Polymorphism rs17076541 - TOPAZ1 Q8N9V7 VAR_039228 p.Pro673Ala Polymorphism rs17646517 - TOPAZ1 Q8N9V7 VAR_039229 p.Lys796Glu Polymorphism rs17076545 - TOPAZ1 Q8N9V7 VAR_039230 p.Gln1352Arg Polymorphism rs11921568 - TOPBP1 Q92547 VAR_057007 p.Asn955Ser Polymorphism rs10935070 - TOPBP1 Q92547 VAR_059733 p.Ser817Leu Polymorphism rs17301766 - TOPBP1 Q92547 VAR_059734 p.Asn1042Ser Polymorphism rs10935070 - TOPORS Q9NS56 VAR_037629 p.Ala154Thr Polymorphism rs17855104 - TOPORS Q9NS56 VAR_037630 p.Glu517Lys Polymorphism rs17855103 - TOPORS Q9NS56 VAR_037631 p.Asn749Asp Polymorphism rs17857515 - TOPORS Q9NS56 VAR_037632 p.Pro812Arg Polymorphism rs36034138 - TOR1AIP1 Q5JTV8 VAR_025717 p.Met146Thr Polymorphism rs1281378 - TOR1AIP1 Q5JTV8 VAR_025718 p.Pro276Arg Polymorphism rs609521 - TOR1AIP1 Q5JTV8 VAR_034566 p.Gln293His Polymorphism rs17279712 - TOR1AIP1 Q5JTV8 VAR_035818 p.Val190Ile Unclassified - A breast cancer sample TOR1A O14656 VAR_010788 p.Asp264His Polymorphism - - TOR1A O14656 VAR_020449 p.Asp216His Polymorphism rs1801968 - TOR1B O14657 VAR_059220 p.Ala54Thr Polymorphism rs10988518 - TOR2A Q5JU69 VAR_055661 p.Lys203Glu Polymorphism rs538066 - TOR3A Q9H497 VAR_025697 p.Phe13Leu Polymorphism rs2296377 - TOX2 Q96NM4 VAR_049560 p.Val223Ala Polymorphism rs6103584 - TOX3 O15405 VAR_055952 p.Val128Met Polymorphism rs16951186 - TOX3 O15405 VAR_055953 p.Gln572Pro Polymorphism rs13332816 - TOX O94900 VAR_064759 p.Ala267Thr Unclassified - - TP53AIP1 Q9HCN2 VAR_059735 p.Ala7Val Polymorphism rs35942033 - TP53BP1 Q12888 VAR_022172 p.Asp353Glu Polymorphism rs560191 - TP53BP1 Q12888 VAR_022173 p.Gly412Ser Polymorphism rs689647 - TP53BP1 Q12888 VAR_022174 p.Met648Val Polymorphism rs45443496 - TP53BP1 Q12888 VAR_022175 p.Gln699Arg Polymorphism rs34823068 - TP53BP1 Q12888 VAR_022176 p.Glu1014Gly Polymorphism rs45470395 - TP53BP1 Q12888 VAR_022177 p.Val1026Ala Polymorphism rs45482998 - TP53BP1 Q12888 VAR_022178 p.Lys1136Gln Polymorphism rs2602141 - TP53BP1 Q12888 VAR_022179 p.Ala1170Gly Polymorphism rs45500399 - TP53BP1 Q12888 VAR_022180 p.Ile1174Val Polymorphism rs3803339 - TP53BP1 Q12888 VAR_034558 p.Asp841Gly Polymorphism rs34185035 - TP53BP1 Q12888 VAR_034559 p.Glu1137Lys Polymorphism rs34740611 - TP53BP1 Q12888 VAR_034560 p.Arg1442Gln Polymorphism rs2230449 - TP53BP1 Q12888 VAR_038689 p.Gly1488Trp Polymorphism rs11554564 - TP53I3 Q53FA7 VAR_033032 p.Met180Lys Unclassified - A breast cancer sample TP53I3 Q53FA7 VAR_048201 p.Glu223Lys Polymorphism rs35176319 - TP53INP1 Q96A56 VAR_051404 p.Cys75Arg Polymorphism rs11991800 - TP53 P04637 VAR_005851 p.Asp7His Unclassified - A sporadic cancer TP53 P04637 VAR_005852 p.Leu35Phe Unclassified - Sporadic cancers TP53 P04637 VAR_005853 p.Leu43Ser Unclassified - A sporadic cancer TP53 P04637 VAR_005854 p.Trp53Cys Unclassified - Sporadic cancers TP53 P04637 VAR_005855 p.Pro60Ser Unclassified - A sporadic cancer TP53 P04637 VAR_005856 p.Pro72Arg Polymorphism rs1042522 - TP53 P04637 VAR_005857 p.Ala79Thr Unclassified - A sporadic cancer TP53 P04637 VAR_005858 p.Pro87Gln Unclassified - Sporadic cancers TP53 P04637 VAR_005859 p.Ser94Thr Unclassified - Sporadic cancers TP53 P04637 VAR_005860 p.Arg110Cys Unclassified - Sporadic cancers TP53 P04637 VAR_005861 p.Arg110Leu Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_005862 p.Arg110Pro Unclassified rs11540654 Sporadic cancers TP53 P04637 VAR_005863 p.Phe113Cys Unclassified - Sporadic cancers TP53 P04637 VAR_005864 p.Thr125Met Unclassified - Sporadic cancers TP53 P04637 VAR_005865 p.Tyr126Asp Unclassified - Sporadic cancers TP53 P04637 VAR_005866 p.Tyr126Asn Unclassified - Sporadic cancers TP53 P04637 VAR_005867 p.Ser127Phe Unclassified - Sporadic cancers TP53 P04637 VAR_005868 p.Pro128Ser Unclassified - Sporadic cancers TP53 P04637 VAR_005869 p.Ala129Asp Unclassified - Sporadic cancers TP53 P04637 VAR_005870 p.Leu130Arg Unclassified - Sporadic cancers TP53 P04637 VAR_005871 p.Asn131Ser Unclassified - Sporadic cancers TP53 P04637 VAR_005872 p.Asn131Lys Unclassified - Sporadic cancers TP53 P04637 VAR_005873 p.Lys132Met Unclassified - Sporadic cancers TP53 P04637 VAR_005874 p.Lys132Gln Unclassified - Sporadic cancers TP53 P04637 VAR_005875 p.Met133Thr Disease rs28934873 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005876 p.Cys135Ser Unclassified - Sporadic cancers TP53 P04637 VAR_005877 p.Cys135Phe Unclassified - Sporadic cancers TP53 P04637 VAR_005878 p.Gln136Glu Unclassified - Sporadic cancers TP53 P04637 VAR_005879 p.Gln136Lys Unclassified - A sporadic cancer TP53 P04637 VAR_005880 p.Leu137Gln Unclassified - Sporadic cancers TP53 P04637 VAR_005881 p.Ala138Pro Disease rs28934875 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005882 p.Lys139Asn Unclassified - Sporadic cancers TP53 P04637 VAR_005884 p.Cys141Gly Unclassified - Sporadic cancers TP53 P04637 VAR_005885 p.Cys141Phe Unclassified - Sporadic cancers TP53 P04637 VAR_005886 p.Cys141Tyr Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005887 p.Val143Ala Unclassified - Sporadic cancers TP53 P04637 VAR_005888 p.Gln144Pro Unclassified - Sporadic cancers TP53 P04637 VAR_005889 p.Leu145Pro Unclassified - Sporadic cancers TP53 P04637 VAR_005890 p.Leu145Gln Unclassified - Sporadic cancers TP53 P04637 VAR_005891 p.Val147Asp Unclassified - Sporadic cancers TP53 P04637 VAR_005892 p.Val147Gly Unclassified - Sporadic cancers TP53 P04637 VAR_005893 p.Ser149Pro Unclassified - Sporadic cancers TP53 P04637 VAR_005894 p.Pro151Ala Unclassified - Sporadic cancers TP53 P04637 VAR_005895 p.Pro151Ser Disease rs28934874 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005896 p.Pro151Thr Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005897 p.Pro152Leu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005898 p.Pro152Ser Unclassified - Sporadic cancers TP53 P04637 VAR_005899 p.Pro153Thr Unclassified - Sporadic cancers TP53 P04637 VAR_005900 p.Gly154Val Unclassified - A brain tumor with no family history TP53 P04637 VAR_005901 p.Thr155Ala Unclassified - Sporadic cancers TP53 P04637 VAR_005902 p.Arg156Pro Unclassified - Sporadic cancers TP53 P04637 VAR_005903 p.Val157Asp Unclassified - Sporadic cancers TP53 P04637 VAR_005904 p.Val157Phe Unclassified - Sporadic cancers TP53 P04637 VAR_005905 p.Arg158Cys Unclassified - Sporadic cancers TP53 P04637 VAR_005906 p.Arg158Gly Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005907 p.Arg158His Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005908 p.Met160Ile Unclassified - Sporadic cancers TP53 P04637 VAR_005909 p.Ala161Ser Unclassified - Sporadic cancers TP53 P04637 VAR_005910 p.Ile162Ser Unclassified - Sporadic cancers TP53 P04637 VAR_005911 p.Ile162Val Unclassified - Sporadic cancers TP53 P04637 VAR_005912 p.Tyr163His Unclassified - Sporadic cancers TP53 P04637 VAR_005913 p.Lys164Asn Unclassified - Sporadic cancers TP53 P04637 VAR_005914 p.Lys164Gln Unclassified - Sporadic cancers TP53 P04637 VAR_005915 p.Gln165Leu Unclassified - Sporadic cancers TP53 P04637 VAR_005916 p.Gln165Arg Unclassified - Sporadic cancers TP53 P04637 VAR_005917 p.Ser166Leu Unclassified - Sporadic cancers TP53 P04637 VAR_005918 p.His168Arg Unclassified - Sporadic cancers TP53 P04637 VAR_005919 p.Met169Ile Unclassified - Sporadic cancers TP53 P04637 VAR_005920 p.Met169Thr Unclassified - Sporadic cancers TP53 P04637 VAR_005921 p.Thr170Met Unclassified - Sporadic cancers TP53 P04637 VAR_005922 p.Thr170Ser Unclassified - Sporadic cancers TP53 P04637 VAR_005923 p.Val172Ala Unclassified - Sporadic cancers TP53 P04637 VAR_005924 p.Val173Glu Unclassified - Sporadic cancers TP53 P04637 VAR_005925 p.Val173Leu Unclassified - Sporadic cancers TP53 P04637 VAR_005926 p.Val173Met Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005927 p.Arg174Lys Unclassified - Sporadic cancers TP53 P04637 VAR_005928 p.Arg175Cys Unclassified - Sporadic cancers TP53 P04637 VAR_005929 p.Arg175Gly Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005930 p.Arg175Leu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005931 p.Arg175Pro Unclassified - Sporadic cancers TP53 P04637 VAR_005932 p.Arg175His Disease rs28934578 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005933 p.Cys176Phe Unclassified - Sporadic cancers TP53 P04637 VAR_005934 p.Cys176Trp Unclassified - Sporadic cancers TP53 P04637 VAR_005935 p.Pro177Leu Unclassified - Sporadic cancers TP53 P04637 VAR_005937 p.Arg181Leu Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_005938 p.Cys182Ser Unclassified - Sporadic cancers TP53 P04637 VAR_005939 p.Asp184Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_005940 p.Asp186Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_005941 p.Gly187Cys Unclassified - Sporadic cancers TP53 P04637 VAR_005942 p.Gly187Ser Unclassified - Sporadic cancers TP53 P04637 VAR_005943 p.Ala189Pro Unclassified - Sporadic cancers TP53 P04637 VAR_005944 p.Pro190Leu Unclassified - Sporadic cancers TP53 P04637 VAR_005945 p.Pro191Thr Unclassified - Sporadic cancers TP53 P04637 VAR_005946 p.Gln192Arg Unclassified - Sporadic cancers TP53 P04637 VAR_005947 p.His193Asp Unclassified - Sporadic cancers TP53 P04637 VAR_005948 p.His193Arg Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005949 p.Leu194Pro Unclassified - Sporadic cancers TP53 P04637 VAR_005950 p.Leu194Arg Unclassified - Sporadic cancers TP53 P04637 VAR_005951 p.Ile195Thr Unclassified - Sporadic cancers TP53 P04637 VAR_005952 p.Glu198Lys Unclassified - Sporadic cancers TP53 P04637 VAR_005953 p.Tyr205Cys Unclassified - Sporadic cancers TP53 P04637 VAR_005954 p.Tyr205Asp Unclassified - Sporadic cancers TP53 P04637 VAR_005955 p.Arg213Gln Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005956 p.Val216Met Unclassified - Sporadic cancers TP53 P04637 VAR_005957 p.Tyr220Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005958 p.Tyr220His Unclassified - Sporadic cancers TP53 P04637 VAR_005959 p.Tyr220Ser Unclassified - A brain tumor with no family history TP53 P04637 VAR_005960 p.Asp228Glu Unclassified - Sporadic cancers TP53 P04637 VAR_005961 p.Thr230Ile Unclassified - Sporadic cancers TP53 P04637 VAR_005962 p.Ile232Thr Unclassified - Sporadic cancers TP53 P04637 VAR_005963 p.Tyr234Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005964 p.Tyr234His Unclassified - Sporadic cancers TP53 P04637 VAR_005965 p.Met237Ile Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005966 p.Cys238Phe Unclassified - Sporadic cancers TP53 P04637 VAR_005967 p.Cys238Tyr Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_005968 p.Ser240Ile Unclassified - Sporadic cancers TP53 P04637 VAR_005969 p.Ser241Phe Disease rs28934573 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005970 p.Cys242Phe Unclassified - Sporadic cancers TP53 P04637 VAR_005971 p.Gly245Ala Unclassified - Sporadic cancers TP53 P04637 VAR_005972 p.Gly245Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005973 p.Gly245Asp Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005974 p.Gly245Ser Disease rs28934575 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005975 p.Gly245Val Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005976 p.Met246Arg Unclassified - Sporadic cancers TP53 P04637 VAR_005977 p.Met246Thr Unclassified - Sporadic cancers TP53 P04637 VAR_005978 p.Met246Val Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005980 p.Asn247Ile Unclassified - Sporadic cancers TP53 P04637 VAR_005981 p.Arg248Gly Unclassified - Sporadic cancers TP53 P04637 VAR_005982 p.Arg248Leu Unclassified - Sporadic cancers TP53 P04637 VAR_005983 p.Arg248Gln Disease rs11540652 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005984 p.Arg248Trp Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005985 p.Arg249Gly Unclassified - Sporadic cancers TP53 P04637 VAR_005986 p.Arg249Ser Unclassified rs28934571 Sporadic cancers TP53 P04637 VAR_005987 p.Ile251Asn Unclassified - Sporadic cancers TP53 P04637 VAR_005988 p.Leu252Pro Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005989 p.Leu257Pro Unclassified - Sporadic cancers TP53 P04637 VAR_005990 p.Glu258Asp Unclassified - Sporadic cancers TP53 P04637 VAR_005991 p.Glu258Lys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005992 p.Val272Leu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005993 p.Arg273Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005994 p.Arg273Gly Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005995 p.Arg273His Disease rs28934576 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005997 p.Val274Phe Unclassified - Sporadic cancers TP53 P04637 VAR_005998 p.Cys275Tyr Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_005999 p.Cys275Trp Unclassified - Sporadic cancers TP53 P04637 VAR_006000 p.Cys277Gly Unclassified - Sporadic cancers TP53 P04637 VAR_006001 p.Pro278Ala Unclassified rs17849781 Sporadic cancers TP53 P04637 VAR_006002 p.Pro278His Unclassified - Sporadic cancers TP53 P04637 VAR_006003 p.Pro278Leu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006004 p.Pro278Ser Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006005 p.Pro278Thr Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006006 p.Gly279Glu Unclassified - Sporadic cancers TP53 P04637 VAR_006007 p.Arg280Lys Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_006008 p.Arg280Ile Unclassified - Sporadic cancers TP53 P04637 VAR_006009 p.Arg280Thr Unclassified - Sporadic cancers TP53 P04637 VAR_006010 p.Asp281Ala Unclassified - Sporadic cancers TP53 P04637 VAR_006011 p.Asp281Glu Unclassified - Sporadic cancers TP53 P04637 VAR_006012 p.Asp281Gly Unclassified - A brain tumor with no family history TP53 P04637 VAR_006013 p.Asp281His Unclassified - Sporadic cancers TP53 P04637 VAR_006014 p.Asp281Val Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_006015 p.Arg282Leu Unclassified - Sporadic cancers TP53 P04637 VAR_006016 p.Arg282Trp Disease rs28934574 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006017 p.Arg283Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006018 p.Arg283Gly Unclassified - Sporadic cancers TP53 P04637 VAR_006019 p.Arg283His Unclassified - A brain tumor with no family history TP53 P04637 VAR_006020 p.Arg283Pro Unclassified - Sporadic cancers TP53 P04637 VAR_006021 p.Thr284Ala Unclassified - Sporadic cancers TP53 P04637 VAR_006022 p.Thr284Pro Unclassified - Sporadic cancers TP53 P04637 VAR_006023 p.Glu285Lys Unclassified - Sporadic cancers TP53 P04637 VAR_006024 p.Glu285Gln Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006025 p.Glu285Val Unclassified - Sporadic cancers TP53 P04637 VAR_006026 p.Glu286Ala Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006027 p.Glu286Asp Unclassified - Sporadic cancers TP53 P04637 VAR_006028 p.Glu286Gly Unclassified - Sporadic cancers TP53 P04637 VAR_006029 p.Glu286Lys Unclassified - Sporadic cancers TP53 P04637 VAR_006030 p.Glu286Gln Unclassified - Sporadic cancers TP53 P04637 VAR_006031 p.His296Pro Unclassified - A sporadic cancer TP53 P04637 VAR_006032 p.Pro300Arg Unclassified - A sporadic cancer TP53 P04637 VAR_006033 p.Pro301Leu Unclassified - Sporadic cancers TP53 P04637 VAR_006034 p.Gly302Glu Unclassified - Sporadic cancers TP53 P04637 VAR_006035 p.Gly302Val Unclassified - A sporadic cancer TP53 P04637 VAR_006036 p.Arg306Gln Unclassified - Sporadic cancers TP53 P04637 VAR_006037 p.Ala307Thr Unclassified - Sporadic cancers TP53 P04637 VAR_006038 p.Pro309Ser Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006039 p.Gly325Val Disease rs28934271 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_006040 p.Gly334Val Unclassified - Sporadic cancers TP53 P04637 VAR_006041 p.Arg337Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_012977 p.Val157Ile Unclassified - Sporadic cancers TP53 P04637 VAR_014632 p.Pro47Ser Polymorphism rs1800371 - TP53 P04637 VAR_015819 p.Lys292Ile Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_017908 p.Ile254Asn Unclassified - Sporadic cancers TP53 P04637 VAR_017909 p.Ile254Thr Unclassified - Sporadic cancers TP53 P04637 VAR_022316 p.Glu339Lys Unclassified rs17882252 A sporadic cancer TP53 P04637 VAR_022317 p.Ser366Ala Unclassified rs17881470 A familial cancer not matching LFS TP53 P04637 VAR_033033 p.Phe113Val Unclassified - Sporadic cancers TP53 P04637 VAR_033034 p.Ala138Val Unclassified - Sporadic cancers TP53 P04637 VAR_033035 p.Tyr163Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_033036 p.Ser241Ala Unclassified - Sporadic cancers TP53 P04637 VAR_033037 p.Arg249Met Unclassified - Sporadic cancers TP53 P04637 VAR_033038 p.Ile251Ser Unclassified - Sporadic cancers TP53 P04637 VAR_033039 p.Asp259Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_035016 p.Arg337His Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_036504 p.Phe134Leu Unclassified - Sporadic cancers TP53 P04637 VAR_036505 p.Pro177Arg Unclassified - Sporadic cancers TP53 P04637 VAR_036506 p.Arg213Pro Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_036507 p.Arg267Trp Unclassified rs55832599 Sporadic cancers TP53 P04637 VAR_036508 p.Glu271Lys Unclassified - Sporadic cancers TP53 P04637 VAR_036509 p.Arg273Leu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044020 p.Met246Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044543 p.Gln5His Unclassified - A sporadic cancer TP53 P04637 VAR_044544 p.Ser6Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044545 p.Pro8Ser Unclassified - A sporadic cancer TP53 P04637 VAR_044546 p.Val10Ile Unclassified - A sporadic cancer TP53 P04637 VAR_044547 p.Glu11Lys Unclassified - Sporadic cancers TP53 P04637 VAR_044548 p.Glu11Gln Unclassified - Sporadic cancers TP53 P04637 VAR_044549 p.Ser15Arg Unclassified - A sporadic cancer TP53 P04637 VAR_044550 p.Gln16Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044551 p.Glu17Asp Unclassified - A sporadic cancer TP53 P04637 VAR_044552 p.Lys24Asn Unclassified - A sporadic cancer TP53 P04637 VAR_044553 p.Glu28Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044554 p.Val31Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044555 p.Ser33Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044556 p.Pro34Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044557 p.Pro36Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044558 p.Ser37Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044559 p.Ser37Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044560 p.Ala39Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044561 p.Ala39Val Unclassified - A sporadic cancer TP53 P04637 VAR_044562 p.Asp42Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_044563 p.Met44Ile Unclassified - A sporadic cancer TP53 P04637 VAR_044564 p.Met44Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044565 p.Met44Val Unclassified - A sporadic cancer TP53 P04637 VAR_044566 p.Leu45Met Unclassified - A sporadic cancer TP53 P04637 VAR_044567 p.Ser46Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044568 p.Ser46Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044569 p.Pro47Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044570 p.Asp48Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044571 p.Asp49His Unclassified - Sporadic cancers TP53 P04637 VAR_044572 p.Asp49Asn Unclassified - A sporadic cancer TP53 P04637 VAR_044573 p.Asp49Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044574 p.Gln52His Unclassified - A sporadic cancer TP53 P04637 VAR_044575 p.Trp53Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044576 p.Phe54Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044577 p.Phe54Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_044578 p.Glu56Lys Unclassified - Sporadic cancers TP53 P04637 VAR_044579 p.Glu56Val Unclassified - A sporadic cancer TP53 P04637 VAR_044580 p.Pro58Gln Unclassified - A sporadic cancer TP53 P04637 VAR_044581 p.Pro58Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044582 p.Gly59Cys Unclassified - Sporadic cancers TP53 P04637 VAR_044583 p.Gly59Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044584 p.Pro60Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044585 p.Pro60Gln Unclassified - A sporadic cancer TP53 P04637 VAR_044586 p.Asp61Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044587 p.Asp61Asn Unclassified - Sporadic cancers TP53 P04637 VAR_044588 p.Glu62Asp Unclassified - A sporadic cancer TP53 P04637 VAR_044589 p.Ala63Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044590 p.Ala63Val Unclassified - A sporadic cancer TP53 P04637 VAR_044591 p.Arg65Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044592 p.Met66Ile Unclassified - A sporadic cancer TP53 P04637 VAR_044593 p.Met66Arg Unclassified - A sporadic cancer TP53 P04637 VAR_044594 p.Pro67Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044595 p.Pro67Arg Unclassified - A sporadic cancer TP53 P04637 VAR_044596 p.Pro67Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044597 p.Glu68Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044598 p.Glu68Gln Unclassified - A sporadic cancer TP53 P04637 VAR_044599 p.Ala69Asp Unclassified - A sporadic cancer TP53 P04637 VAR_044600 p.Ala69Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044601 p.Ala69Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044602 p.Ala69Val Unclassified - A sporadic cancer TP53 P04637 VAR_044603 p.Ala70Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044604 p.Pro71Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044605 p.Val73Glu Unclassified - A sporadic cancer TP53 P04637 VAR_044606 p.Val73Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044607 p.Val73Met Unclassified - Sporadic cancers TP53 P04637 VAR_044608 p.Ala74Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044609 p.Pro75Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044610 p.Pro75Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044611 p.Pro75Ser Unclassified - A sporadic cancer TP53 P04637 VAR_044612 p.Ala76Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044613 p.Ala76Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044614 p.Pro77Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044615 p.Ala78Val Unclassified - Sporadic cancers TP53 P04637 VAR_044616 p.Ala79Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044617 p.Ala79Val Unclassified - Sporadic cancers TP53 P04637 VAR_044618 p.Pro80Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044619 p.Pro80Ser Unclassified - A sporadic cancer TP53 P04637 VAR_044620 p.Thr81Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044621 p.Pro82Leu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044622 p.Pro82Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044623 p.Ala83Glu Unclassified - A sporadic cancer TP53 P04637 VAR_044624 p.Ala83Val Unclassified - Sporadic cancers TP53 P04637 VAR_044625 p.Ala84Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044626 p.Ala84Val Unclassified - Sporadic cancers TP53 P04637 VAR_044627 p.Pro85Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044628 p.Pro85Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044629 p.Ala86Val Unclassified - A sporadic cancer TP53 P04637 VAR_044630 p.Ala88Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044631 p.Ala88Val Unclassified - Sporadic cancers TP53 P04637 VAR_044632 p.Pro89Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044633 p.Pro89Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044634 p.Ser90Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044635 p.Ser90Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_044636 p.Trp91Cys Unclassified - A sporadic cancer TP53 P04637 VAR_044637 p.Pro92Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044638 p.Pro92Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044639 p.Pro92Ser Unclassified - A sporadic cancer TP53 P04637 VAR_044640 p.Leu93Met Unclassified - A sporadic cancer TP53 P04637 VAR_044641 p.Leu93Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044642 p.Ser94Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044643 p.Ser95Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044644 p.Ser95Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044645 p.Ser96Cys Unclassified - A sporadic cancer TP53 P04637 VAR_044646 p.Ser96Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044647 p.Ser96Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044648 p.Val97Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044649 p.Val97Phe Unclassified - A sporadic cancer TP53 P04637 VAR_044650 p.Val97Ile Unclassified - Familial cancer not matching LFS TP53 P04637 VAR_044651 p.Pro98Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044652 p.Pro98Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044653 p.Ser99Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044654 p.Ser99Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044655 p.Gln100Arg Unclassified - A sporadic cancer TP53 P04637 VAR_044656 p.Lys101Asn Unclassified - A sporadic cancer TP53 P04637 VAR_044657 p.Lys101Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044658 p.Thr102Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044659 p.Gln104His Unclassified - Sporadic cancers TP53 P04637 VAR_044660 p.Gln104Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044661 p.Gly105Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044662 p.Gly105Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044663 p.Gly105Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044664 p.Gly105Ser Unclassified - A sporadic cancer TP53 P04637 VAR_044665 p.Gly105Val Unclassified - Sporadic cancers TP53 P04637 VAR_044666 p.Ser106Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044667 p.Ser106Arg Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_044668 p.Tyr107Cys Unclassified - A sporadic cancer TP53 P04637 VAR_044669 p.Tyr107Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044670 p.Tyr107His Unclassified - A sporadic cancer TP53 P04637 VAR_044671 p.Gly108Asp Unclassified - A sporadic cancer TP53 P04637 VAR_044672 p.Gly108Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044673 p.Phe109Cys Unclassified - Sporadic cancers TP53 P04637 VAR_044674 p.Phe109Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044675 p.Phe109Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044676 p.Arg110Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044677 p.Arg110His Unclassified - Sporadic cancers TP53 P04637 VAR_044678 p.Arg110Ser Unclassified - A sporadic cancer TP53 P04637 VAR_044679 p.Leu111Met Unclassified - A sporadic cancer TP53 P04637 VAR_044680 p.Leu111Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044681 p.Leu111Gln Unclassified - Sporadic cancers TP53 P04637 VAR_044682 p.Leu111Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044683 p.Gly112Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044684 p.Gly112Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044685 p.Phe113Ile Unclassified - A sporadic cancer TP53 P04637 VAR_044686 p.Phe113Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044687 p.Phe113Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044688 p.His115Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044689 p.Ser116Cys Unclassified - Sporadic cancers TP53 P04637 VAR_044690 p.Ser116Phe Unclassified - A sporadic cancer TP53 P04637 VAR_044691 p.Ser116Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044692 p.Gly117Glu Unclassified - Sporadic cancers TP53 P04637 VAR_044693 p.Gly117Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044694 p.Thr118Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044695 p.Thr118Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044696 p.Thr118Arg Unclassified - A sporadic cancer TP53 P04637 VAR_044697 p.Ala119Asp Unclassified - A sporadic cancer TP53 P04637 VAR_044698 p.Ala119Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044699 p.Lys120Glu Unclassified - Sporadic cancers TP53 P04637 VAR_044700 p.Lys120Met Unclassified - Sporadic cancers TP53 P04637 VAR_044701 p.Lys120Gln Unclassified - A sporadic cancer TP53 P04637 VAR_044702 p.Lys120Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044703 p.Ser121Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044704 p.Val122Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044705 p.Thr123Ile Unclassified - A sporadic cancer TP53 P04637 VAR_044706 p.Thr123Asn Unclassified - A sporadic cancer TP53 P04637 VAR_044707 p.Cys124Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044708 p.Cys124Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044709 p.Cys124Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044710 p.Cys124Trp Unclassified - A sporadic cancer TP53 P04637 VAR_044711 p.Cys124Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_044712 p.Thr125Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044713 p.Thr125Lys Unclassified - Sporadic cancers TP53 P04637 VAR_044714 p.Thr125Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044715 p.Thr125Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044716 p.Tyr126Cys Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_044717 p.Tyr126Phe Unclassified - A sporadic cancer TP53 P04637 VAR_044718 p.Tyr126His Unclassified - Sporadic cancers TP53 P04637 VAR_044719 p.Tyr126Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044720 p.Ser127Cys Unclassified - A sporadic cancer TP53 P04637 VAR_044721 p.Ser127Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044722 p.Ser127Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044723 p.Ser127Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044724 p.Pro128Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044725 p.Pro128Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044726 p.Pro128Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044727 p.Ala129Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044728 p.Ala129Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044729 p.Ala129Val Unclassified - Sporadic cancers TP53 P04637 VAR_044730 p.Leu130Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044731 p.Leu130His Unclassified - Sporadic cancers TP53 P04637 VAR_044732 p.Leu130Ile Unclassified - A sporadic cancer TP53 P04637 VAR_044733 p.Leu130Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044734 p.Leu130Val Unclassified - Sporadic cancers TP53 P04637 VAR_044735 p.Asn131Asp Unclassified - A sporadic cancer TP53 P04637 VAR_044736 p.Asn131His Unclassified - Sporadic cancers TP53 P04637 VAR_044737 p.Asn131Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044738 p.Asn131Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044739 p.Asn131Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044740 p.Lys132Glu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044741 p.Lys132Asn Unclassified - Sporadic cancers TP53 P04637 VAR_044742 p.Lys132Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044743 p.Lys132Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044744 p.Met133Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044745 p.Met133Lys Unclassified - Sporadic cancers TP53 P04637 VAR_044746 p.Met133Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044747 p.Met133Arg Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044748 p.Met133Val Unclassified - Sporadic cancers TP53 P04637 VAR_044749 p.Phe134Cys Unclassified - Sporadic cancers TP53 P04637 VAR_044750 p.Phe134Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044751 p.Phe134Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044752 p.Phe134Val Unclassified - Sporadic cancers TP53 P04637 VAR_044753 p.Cys135Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044754 p.Cys135Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044755 p.Cys135Trp Unclassified - Sporadic cancers TP53 P04637 VAR_044756 p.Cys135Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044757 p.Gln136His Unclassified - Sporadic cancers TP53 P04637 VAR_044758 p.Gln136Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044759 p.Gln136Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044760 p.Leu137Met Unclassified - Sporadic cancers TP53 P04637 VAR_044761 p.Leu137Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044762 p.Leu137Val Unclassified - Sporadic cancers TP53 P04637 VAR_044763 p.Ala138Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044764 p.Ala138Ser Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044765 p.Ala138Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044766 p.Lys139Glu Unclassified - Sporadic cancers TP53 P04637 VAR_044767 p.Lys139Gln Unclassified - Sporadic cancers TP53 P04637 VAR_044768 p.Lys139Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044769 p.Lys139Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044770 p.Thr140Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044771 p.Thr140Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044772 p.Thr140Asn Unclassified - A sporadic cancer TP53 P04637 VAR_044773 p.Thr140Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044774 p.Thr140Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044775 p.Cys141Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044776 p.Cys141Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044777 p.Cys141Trp Unclassified - Sporadic cancers TP53 P04637 VAR_044778 p.Pro142Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044779 p.Pro142His Unclassified - Sporadic cancers TP53 P04637 VAR_044780 p.Pro142Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044781 p.Pro142Arg Unclassified - A sporadic cancer TP53 P04637 VAR_044782 p.Pro142Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044783 p.Pro142Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044784 p.Val143Glu Unclassified - Sporadic cancers TP53 P04637 VAR_044785 p.Val143Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044786 p.Val143Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044787 p.Val143Met Unclassified - Sporadic cancers TP53 P04637 VAR_044788 p.Gln144His Unclassified - Sporadic cancers TP53 P04637 VAR_044789 p.Gln144Lys Unclassified - Sporadic cancers TP53 P04637 VAR_044790 p.Gln144Leu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044791 p.Gln144Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044792 p.Leu145Met Unclassified - Sporadic cancers TP53 P04637 VAR_044793 p.Leu145Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044794 p.Leu145Val Unclassified - Sporadic cancers TP53 P04637 VAR_044795 p.Trp146Cys Unclassified - A sporadic cancer TP53 P04637 VAR_044796 p.Trp146Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044797 p.Trp146Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044798 p.Trp146Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044799 p.Trp146Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044800 p.Val147Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044801 p.Val147Glu Unclassified - Sporadic cancers TP53 P04637 VAR_044802 p.Val147Phe Unclassified - A sporadic cancer TP53 P04637 VAR_044803 p.Val147Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044804 p.Asp148Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044805 p.Asp148Glu Unclassified - Sporadic cancers TP53 P04637 VAR_044806 p.Asp148Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044807 p.Asp148Asn Unclassified - Sporadic cancers TP53 P04637 VAR_044808 p.Asp148Val Unclassified - Sporadic cancers TP53 P04637 VAR_044809 p.Asp148Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044810 p.Ser149Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044811 p.Ser149Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044812 p.Thr150Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044813 p.Thr150Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044814 p.Thr150Lys Unclassified - Sporadic cancers TP53 P04637 VAR_044815 p.Thr150Asn Unclassified - A sporadic cancer TP53 P04637 VAR_044816 p.Thr150Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044817 p.Thr150Arg Unclassified - A sporadic cancer TP53 P04637 VAR_044818 p.Pro151His Unclassified - Sporadic cancers TP53 P04637 VAR_044819 p.Pro151Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044820 p.Pro151Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044821 p.Pro152Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044822 p.Pro152Gln Unclassified - Sporadic cancers TP53 P04637 VAR_044823 p.Pro152Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044824 p.Pro152Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044825 p.Pro153Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044826 p.Pro153His Unclassified - A sporadic cancer TP53 P04637 VAR_044827 p.Pro153Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044828 p.Pro153Arg Unclassified - A sporadic cancer TP53 P04637 VAR_044829 p.Pro153Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044830 p.Gly154Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044831 p.Gly154Cys Unclassified - A sporadic cancer TP53 P04637 VAR_044832 p.Gly154Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044833 p.Gly154Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044834 p.Thr155Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044835 p.Thr155Met Unclassified - A sporadic cancer TP53 P04637 VAR_044836 p.Thr155Asn Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044837 p.Thr155Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044838 p.Thr155Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044839 p.Arg156Cys Unclassified - Sporadic cancers TP53 P04637 VAR_044840 p.Arg156Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044841 p.Arg156His Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044842 p.Arg156Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044843 p.Arg156Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044844 p.Val157Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044845 p.Val157Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044846 p.Val157Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044847 p.Arg158Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044848 p.Arg158Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044849 p.Arg158Gln Unclassified - A sporadic cancer TP53 P04637 VAR_044850 p.Arg158Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044851 p.Ala159Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044852 p.Ala159Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044853 p.Ala159Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044854 p.Ala159Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044855 p.Ala159Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044856 p.Ala159Val Unclassified - Sporadic cancers TP53 P04637 VAR_044857 p.Met160Lys Unclassified - Sporadic cancers TP53 P04637 VAR_044858 p.Met160Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044859 p.Met160Val Unclassified - Sporadic cancers TP53 P04637 VAR_044860 p.Ala161Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044861 p.Ala161Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044862 p.Ala161Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044863 p.Ala161Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044864 p.Ala161Val Unclassified - Sporadic cancers TP53 P04637 VAR_044865 p.Ile162Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044866 p.Ile162Met Unclassified - Sporadic cancers TP53 P04637 VAR_044867 p.Ile162Asn Unclassified - A breast cancer with no family history TP53 P04637 VAR_044868 p.Ile162Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044869 p.Tyr163Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044870 p.Tyr163Phe Unclassified - A sporadic cancer TP53 P04637 VAR_044871 p.Tyr163Asn Unclassified - Sporadic cancers TP53 P04637 VAR_044872 p.Tyr163Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044873 p.Lys164Glu Unclassified - Sporadic cancers TP53 P04637 VAR_044874 p.Lys164Met Unclassified - Sporadic cancers TP53 P04637 VAR_044875 p.Lys164Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044876 p.Lys164Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044877 p.Gln165Glu Unclassified - Sporadic cancers TP53 P04637 VAR_044878 p.Gln165His Unclassified - A sporadic cancer TP53 P04637 VAR_044879 p.Gln165Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044880 p.Ser166Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044881 p.Ser166Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044882 p.Ser166Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044883 p.Ser166Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044884 p.Gln167His Unclassified - Sporadic cancers TP53 P04637 VAR_044885 p.Gln167Lys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044886 p.Gln167Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044887 p.Gln167Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044888 p.His168Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044889 p.His168Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044890 p.His168Asn Unclassified - Sporadic cancers TP53 P04637 VAR_044891 p.His168Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044892 p.His168Gln Unclassified - Sporadic cancers TP53 P04637 VAR_044893 p.His168Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044894 p.Met169Lys Unclassified - Sporadic cancers TP53 P04637 VAR_044895 p.Met169Val Unclassified - Sporadic cancers TP53 P04637 VAR_044896 p.Thr170Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044897 p.Thr170Lys Unclassified - A sporadic cancer TP53 P04637 VAR_044898 p.Thr170Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044899 p.Glu171Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044900 p.Glu171Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044901 p.Glu171Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044902 p.Glu171Lys Unclassified - Sporadic cancers TP53 P04637 VAR_044903 p.Glu171Gln Unclassified - A sporadic cancer TP53 P04637 VAR_044904 p.Glu171Val Unclassified - Sporadic cancers TP53 P04637 VAR_044905 p.Val172Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044906 p.Val172Phe Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044907 p.Val172Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044908 p.Val172Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044909 p.Val173Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044910 p.Val173Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044911 p.Arg174Gly Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044912 p.Arg174Met Unclassified - Sporadic cancers TP53 P04637 VAR_044913 p.Arg174Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044914 p.Arg174Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044915 p.Arg174Trp Unclassified - Sporadic cancers TP53 P04637 VAR_044916 p.Arg175Gln Unclassified - A sporadic cancer TP53 P04637 VAR_044917 p.Arg175Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044918 p.Cys176Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044919 p.Cys176Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044920 p.Cys176Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044921 p.Cys176Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044922 p.Pro177Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044923 p.Pro177His Unclassified - Sporadic cancers TP53 P04637 VAR_044924 p.Pro177Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044925 p.Pro177Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044926 p.His178Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044927 p.His178Leu Unclassified - A sporadic cancer TP53 P04637 VAR_044928 p.His178Asn Unclassified - Sporadic cancers TP53 P04637 VAR_044929 p.His178Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044930 p.His178Gln Unclassified - Sporadic cancers TP53 P04637 VAR_044931 p.His178Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044932 p.His178Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044933 p.His179Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044934 p.His179Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044935 p.His179Asn Unclassified - Sporadic cancers TP53 P04637 VAR_044936 p.His179Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044937 p.His179Gln Unclassified - Sporadic cancers TP53 P04637 VAR_044938 p.His179Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044939 p.His179Tyr Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044940 p.Glu180Ala Unclassified - A sporadic cancer TP53 P04637 VAR_044941 p.Glu180Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044942 p.Glu180Gly Unclassified - A sporadic cancer TP53 P04637 VAR_044943 p.Glu180Lys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044944 p.Glu180Gln Unclassified - Sporadic cancers TP53 P04637 VAR_044945 p.Glu180Val Unclassified - A sporadic cancer TP53 P04637 VAR_044946 p.Arg181Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044947 p.Arg181Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044948 p.Arg181His Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_044949 p.Arg181Pro Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_044950 p.Arg181Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044951 p.Cys182Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044952 p.Cys182Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044953 p.Ser183Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044954 p.Ser183Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044955 p.Asp184Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044956 p.Asp184His Unclassified - Sporadic cancers TP53 P04637 VAR_044957 p.Asp184Val Unclassified - Sporadic cancers TP53 P04637 VAR_044958 p.Ser185Cys Unclassified - A sporadic cancer TP53 P04637 VAR_044959 p.Ser185Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044960 p.Ser185Ile Unclassified - Sporadic cancers TP53 P04637 VAR_044961 p.Ser185Asn Unclassified - A sporadic cancer TP53 P04637 VAR_044962 p.Ser185Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044963 p.Ser185Thr Unclassified - A sporadic cancer TP53 P04637 VAR_044964 p.Asp186Glu Unclassified - A sporadic cancer TP53 P04637 VAR_044965 p.Asp186Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044966 p.Asp186His Unclassified - Sporadic cancers TP53 P04637 VAR_044967 p.Asp186Asn Unclassified - Sporadic cancers TP53 P04637 VAR_044968 p.Asp186Val Unclassified - Sporadic cancers TP53 P04637 VAR_044969 p.Gly187Asp Unclassified - Sporadic cancers TP53 P04637 VAR_044970 p.Gly187Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044971 p.Gly187Val Unclassified - Sporadic cancers TP53 P04637 VAR_044972 p.Leu188Pro Unclassified - A sporadic cancer TP53 P04637 VAR_044973 p.Leu188Val Unclassified - Sporadic cancers TP53 P04637 VAR_044974 p.Ala189Asp Unclassified - A sporadic cancer TP53 P04637 VAR_044975 p.Ala189Gly Unclassified - Sporadic cancers TP53 P04637 VAR_044976 p.Ala189Ser Unclassified - A sporadic cancer TP53 P04637 VAR_044977 p.Ala189Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044978 p.Ala189Val Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_044979 p.Pro190Ala Unclassified - Sporadic cancers TP53 P04637 VAR_044980 p.Pro190His Unclassified - A sporadic cancer TP53 P04637 VAR_044981 p.Pro190Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044982 p.Pro190Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044983 p.Pro190Thr Unclassified - Sporadic cancers TP53 P04637 VAR_044984 p.Pro191His Unclassified - Sporadic cancers TP53 P04637 VAR_044985 p.Pro191Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044986 p.Pro191Arg Unclassified - Sporadic cancers TP53 P04637 VAR_044987 p.Pro191Ser Unclassified - Sporadic cancers TP53 P04637 VAR_044988 p.Gln192His Unclassified - Sporadic cancers TP53 P04637 VAR_044989 p.Gln192Lys Unclassified - A sporadic cancer TP53 P04637 VAR_044990 p.Gln192Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044991 p.Gln192Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044992 p.His193Leu Unclassified - Sporadic cancers TP53 P04637 VAR_044993 p.His193Asn Unclassified - Sporadic cancers TP53 P04637 VAR_044994 p.His193Pro Unclassified - Sporadic cancers TP53 P04637 VAR_044995 p.His193Gln Unclassified - Sporadic cancers TP53 P04637 VAR_044996 p.His193Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_044997 p.Leu194Phe Unclassified - Sporadic cancers TP53 P04637 VAR_044998 p.Leu194His Unclassified - Sporadic cancers TP53 P04637 VAR_044999 p.Leu194Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045000 p.Leu194Val Unclassified - Sporadic cancers TP53 P04637 VAR_045001 p.Ile195Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045002 p.Ile195Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045003 p.Ile195Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045004 p.Ile195Val Unclassified - A sporadic cancer TP53 P04637 VAR_045005 p.Arg196Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045006 p.Arg196Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045007 p.Arg196Pro Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045008 p.Arg196Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045009 p.Arg196Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045010 p.Val197Glu Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_045011 p.Val197Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045012 p.Val197Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045013 p.Val197Met Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045014 p.Glu198Asp Unclassified - A sporadic cancer TP53 P04637 VAR_045015 p.Glu198Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045016 p.Glu198Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045017 p.Glu198Val Unclassified - A sporadic cancer TP53 P04637 VAR_045018 p.Gly199Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045019 p.Gly199Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045020 p.Gly199Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045021 p.Gly199Val Unclassified - Sporadic cancers TP53 P04637 VAR_045022 p.Asn200Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045023 p.Asn200Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045024 p.Asn200Lys Unclassified - A sporadic cancer TP53 P04637 VAR_045025 p.Asn200Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045026 p.Asn200Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045027 p.Leu201Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045028 p.Leu201Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045029 p.Leu201Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045030 p.Arg202Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045031 p.Arg202Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045032 p.Arg202His Unclassified - Sporadic cancers TP53 P04637 VAR_045033 p.Arg202Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045034 p.Arg202Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045035 p.Arg202Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045036 p.Val203Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045037 p.Val203Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045038 p.Val203Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045039 p.Val203Met Unclassified - Sporadic cancers TP53 P04637 VAR_045040 p.Glu204Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045041 p.Glu204Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045042 p.Glu204Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045043 p.Glu204Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045044 p.Glu204Gln Unclassified - A sporadic cancer TP53 P04637 VAR_045045 p.Glu204Val Unclassified - A sporadic cancer TP53 P04637 VAR_045046 p.Tyr205His Unclassified - Sporadic cancers TP53 P04637 VAR_045047 p.Tyr205Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045048 p.Tyr205Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045049 p.Leu206Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045050 p.Leu206Met Unclassified - A sporadic cancer TP53 P04637 VAR_045051 p.Asp207Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045052 p.Asp207Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045053 p.Asp207His Unclassified - Sporadic cancers TP53 P04637 VAR_045054 p.Asp207Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045055 p.Asp207Val Unclassified - A sporadic cancer TP53 P04637 VAR_045056 p.Asp207Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_045057 p.Asp208Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045058 p.Asp208Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045059 p.Asp208His Unclassified - A sporadic cancer TP53 P04637 VAR_045060 p.Asp208Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045061 p.Asp208Val Unclassified - Sporadic cancers TP53 P04637 VAR_045062 p.Asp208Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_045063 p.Arg209Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045064 p.Arg209Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045065 p.Arg209Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045066 p.Arg209Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045067 p.Asn210Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045068 p.Asn210His Unclassified - Sporadic cancers TP53 P04637 VAR_045069 p.Asn210Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045070 p.Asn210Lys Unclassified - A sporadic cancer TP53 P04637 VAR_045071 p.Asn210Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045072 p.Asn210Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045073 p.Asn210Tyr Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_045074 p.Thr211Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045075 p.Thr211Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045076 p.Thr211Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045077 p.Thr211Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045078 p.Thr211Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045079 p.Phe212Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045080 p.Phe212Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045081 p.Phe212Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045082 p.Phe212Val Unclassified - A sporadic cancer TP53 P04637 VAR_045083 p.Phe212Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045084 p.Arg213Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045085 p.Arg213Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045086 p.Arg213Trp Unclassified - Sporadic cancers TP53 P04637 VAR_045087 p.His214Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045088 p.His214Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045089 p.His214Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045090 p.His214Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045091 p.Ser215Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045092 p.Ser215Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045093 p.Ser215Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045094 p.Ser215Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045095 p.Ser215Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045096 p.Ser215Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045097 p.Val216Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045098 p.Val216Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045099 p.Val216Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045100 p.Val216Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045101 p.Val217Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045102 p.Val217Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045103 p.Val217Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045104 p.Val217Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045105 p.Val217Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045106 p.Val218Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045107 p.Val218Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045108 p.Val218Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045109 p.Val218Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045110 p.Val218Met Unclassified - Sporadic cancers TP53 P04637 VAR_045111 p.Pro219His Unclassified - A sporadic cancer TP53 P04637 VAR_045112 p.Pro219Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045113 p.Pro219Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045114 p.Pro219Ser Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_045115 p.Pro219Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045116 p.Tyr220Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045117 p.Tyr220Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045118 p.Tyr220Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045119 p.Glu221Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045120 p.Glu221Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045121 p.Glu221Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045122 p.Glu221Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045123 p.Glu221Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045124 p.Pro222Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045125 p.Pro222Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045126 p.Pro222Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045127 p.Pro222Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045128 p.Pro222Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045129 p.Pro222Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045130 p.Pro223His Unclassified - Sporadic cancers TP53 P04637 VAR_045131 p.Pro223Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045132 p.Pro223Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045133 p.Pro223Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045134 p.Pro223Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045135 p.Glu224Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045136 p.Glu224Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045137 p.Glu224Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045138 p.Glu224Val Unclassified - A sporadic cancer TP53 P04637 VAR_045139 p.Val225Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045140 p.Val225Asp Unclassified - A sporadic cancer TP53 P04637 VAR_045141 p.Val225Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045142 p.Val225Gly Unclassified - A sporadic cancer TP53 P04637 VAR_045143 p.Val225Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045144 p.Val225Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045145 p.Gly226Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045146 p.Gly226Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045147 p.Gly226Val Unclassified - Sporadic cancers TP53 P04637 VAR_045148 p.Ser227Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045149 p.Ser227Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045150 p.Ser227Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045151 p.Ser227Thr Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045152 p.Asp228Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045153 p.Asp228Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045154 p.Asp228His Unclassified - Sporadic cancers TP53 P04637 VAR_045155 p.Asp228Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045156 p.Asp228Val Unclassified - Sporadic cancers TP53 P04637 VAR_045157 p.Asp228Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045158 p.Cys229Gly Unclassified - A sporadic cancer TP53 P04637 VAR_045159 p.Cys229Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045160 p.Cys229Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045161 p.Cys229Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045162 p.Thr230Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045163 p.Thr230Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045164 p.Thr230Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045165 p.Thr230Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045166 p.Thr231Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045167 p.Thr231Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045168 p.Thr231Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045169 p.Thr231Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045170 p.Ile232Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045171 p.Ile232Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045172 p.Ile232Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045173 p.Ile232Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045174 p.Ile232Val Unclassified - Sporadic cancers TP53 P04637 VAR_045175 p.His233Asp Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045176 p.His233Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045177 p.His233Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045178 p.His233Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045179 p.His233Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045180 p.Tyr234Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045181 p.Tyr234Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045182 p.Tyr234Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045183 p.Tyr234Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045184 p.Asn235His Unclassified - A sporadic cancer TP53 P04637 VAR_045185 p.Asn235Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045186 p.Asn235Ser Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045187 p.Asn235Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045188 p.Asn235Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045189 p.Tyr236Cys Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045190 p.Tyr236Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045191 p.Tyr236Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045192 p.Tyr236His Unclassified - Sporadic cancers TP53 P04637 VAR_045193 p.Tyr236Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045194 p.Tyr236Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045195 p.Met237Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045196 p.Met237Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045197 p.Met237Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045198 p.Met237Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045199 p.Met237Val Unclassified - Sporadic cancers TP53 P04637 VAR_045200 p.Cys238Gly Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045201 p.Cys238Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045202 p.Cys238Ser Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045203 p.Cys238Trp Unclassified - Sporadic cancers TP53 P04637 VAR_045204 p.Asn239Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045205 p.Asn239His Unclassified - A sporadic cancer TP53 P04637 VAR_045206 p.Asn239Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045207 p.Asn239Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045208 p.Asn239Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045209 p.Asn239Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045210 p.Asn239Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045211 p.Ser240Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045212 p.Ser240Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045213 p.Ser240Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045214 p.Ser240Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045215 p.Ser240Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045216 p.Ser240Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045217 p.Ser241Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045218 p.Ser241Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045219 p.Ser241Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045220 p.Cys242Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045221 p.Cys242Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045222 p.Cys242Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045223 p.Cys242Trp Unclassified - Sporadic cancers TP53 P04637 VAR_045224 p.Cys242Tyr Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_045225 p.Met243Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045226 p.Met243Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045227 p.Met243Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045228 p.Met243Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045229 p.Met243Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045230 p.Met243Val Unclassified - Sporadic cancers TP53 P04637 VAR_045231 p.Gly244Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045232 p.Gly244Asp Disease rs28934572 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045233 p.Gly244Glu Unclassified - A sporadic cancer TP53 P04637 VAR_045234 p.Gly244Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045235 p.Gly244Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045236 p.Gly244Val Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045237 p.Gly245Glu Unclassified - A sporadic cancer TP53 P04637 VAR_045238 p.Gly245Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045239 p.Met246Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045240 p.Met246Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045241 p.Asn247Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045242 p.Asn247Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045243 p.Asn247Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045244 p.Asn247Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045245 p.Arg248Cys Unclassified - A sporadic cancer TP53 P04637 VAR_045246 p.Arg248Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045247 p.Arg249Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045248 p.Arg249Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045249 p.Arg249Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045250 p.Arg249Trp Unclassified - Sporadic cancers TP53 P04637 VAR_045251 p.Pro250Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045252 p.Pro250His Unclassified - Sporadic cancers TP53 P04637 VAR_045253 p.Pro250Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045254 p.Pro250Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045255 p.Pro250Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045256 p.Ile251Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045257 p.Ile251Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045258 p.Ile251Met Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045259 p.Ile251Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045260 p.Ile251Val Unclassified - Sporadic cancers TP53 P04637 VAR_045261 p.Leu252Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045262 p.Leu252His Unclassified - A sporadic cancer TP53 P04637 VAR_045263 p.Leu252Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045264 p.Leu252Val Unclassified - A sporadic cancer TP53 P04637 VAR_045265 p.Thr253Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045266 p.Thr253Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045267 p.Thr253Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045268 p.Thr253Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045269 p.Ile254Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045270 p.Ile254Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045271 p.Ile254Met Unclassified - A sporadic cancer TP53 P04637 VAR_045272 p.Ile254Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045273 p.Ile254Val Unclassified - Sporadic cancers TP53 P04637 VAR_045274 p.Ile255Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045275 p.Ile255Met Unclassified - Sporadic cancers TP53 P04637 VAR_045276 p.Ile255Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045277 p.Ile255Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045278 p.Ile255Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045279 p.Ile255Val Unclassified - Sporadic cancers TP53 P04637 VAR_045280 p.Thr256Ile Unclassified - A brain tumor with no family history TP53 P04637 VAR_045281 p.Thr256Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045282 p.Thr256Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045283 p.Thr256Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045284 p.Leu257Gln Disease rs28934577 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045285 p.Leu257Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045286 p.Leu257Val Unclassified - Sporadic cancers TP53 P04637 VAR_045287 p.Glu258Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045288 p.Glu258Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045289 p.Glu258Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045290 p.Glu258Val Unclassified - Sporadic cancers TP53 P04637 VAR_045291 p.Asp259Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045292 p.Asp259Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045293 p.Asp259His Unclassified - Sporadic cancers TP53 P04637 VAR_045294 p.Asp259Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045295 p.Asp259Val Unclassified - Sporadic cancers TP53 P04637 VAR_045296 p.Ser260Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045297 p.Ser260Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045298 p.Ser260Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045299 p.Ser260Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045300 p.Ser260Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045301 p.Ser260Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045302 p.Ser261Cys Unclassified - A sporadic cancer TP53 P04637 VAR_045303 p.Ser261Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045304 p.Ser261Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045305 p.Ser261Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045306 p.Ser261Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045307 p.Gly262Cys Unclassified - A sporadic cancer TP53 P04637 VAR_045308 p.Gly262Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045309 p.Gly262Val Unclassified - Sporadic cancers TP53 P04637 VAR_045310 p.Asn263Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045311 p.Asn263His Unclassified - Sporadic cancers TP53 P04637 VAR_045312 p.Asn263Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045313 p.Asn263Lys Unclassified - A sporadic cancer TP53 P04637 VAR_045314 p.Asn263Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045315 p.Leu264Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045316 p.Leu264Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045317 p.Leu264Gln Unclassified - A sporadic cancer TP53 P04637 VAR_045318 p.Leu264Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045319 p.Leu264Val Unclassified - A sporadic cancer TP53 P04637 VAR_045320 p.Leu265Met Unclassified - Sporadic cancers TP53 P04637 VAR_045321 p.Leu265Pro Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045322 p.Leu265Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045323 p.Gly266Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045324 p.Gly266Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045325 p.Gly266Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045326 p.Gly266Val Unclassified - Sporadic cancers TP53 P04637 VAR_045327 p.Arg267Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045328 p.Arg267His Unclassified - A sporadic cancer TP53 P04637 VAR_045329 p.Arg267Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045330 p.Arg267Gln Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045331 p.Asn268His Unclassified - Sporadic cancers TP53 P04637 VAR_045332 p.Asn268Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045333 p.Asn268Lys Unclassified - A sporadic cancer TP53 P04637 VAR_045334 p.Asn268Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045335 p.Asn268Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_045336 p.Ser269Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045337 p.Ser269Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045338 p.Ser269Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045339 p.Ser269Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045340 p.Ser269Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045341 p.Phe270Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045342 p.Phe270Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045343 p.Phe270Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045344 p.Phe270Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045345 p.Phe270Val Unclassified - Sporadic cancers TP53 P04637 VAR_045346 p.Phe270Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045347 p.Glu271Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045348 p.Glu271Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045349 p.Glu271Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045350 p.Glu271Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045351 p.Val272Ala Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_045352 p.Val272Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045353 p.Val272Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045354 p.Val272Met Unclassified - Sporadic cancers TP53 P04637 VAR_045355 p.Arg273Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045356 p.Arg273Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045357 p.Arg273Ser Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_045358 p.Val274Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045359 p.Val274Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045360 p.Val274Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045361 p.Val274Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045362 p.Cys275Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045363 p.Cys275Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045364 p.Cys275Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045365 p.Cys275Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045366 p.Ala276Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045367 p.Ala276Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045368 p.Ala276Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045369 p.Ala276Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045370 p.Ala276Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045371 p.Ala276Val Unclassified - Sporadic cancers TP53 P04637 VAR_045372 p.Cys277Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045373 p.Cys277Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045374 p.Cys277Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045375 p.Cys277Tyr Unclassified - An osteosarcoma with no family history TP53 P04637 VAR_045376 p.Pro278Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045377 p.Gly279Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045378 p.Gly279Val Unclassified - Sporadic cancers TP53 P04637 VAR_045379 p.Gly279Trp Unclassified - Sporadic cancers TP53 P04637 VAR_045380 p.Arg280Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045381 p.Arg280Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045382 p.Arg280Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045383 p.Asp281Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045384 p.Arg282Gly Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045385 p.Arg282His Unclassified - A sporadic cancer TP53 P04637 VAR_045386 p.Arg282Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045387 p.Arg282Gln Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_045388 p.Arg283Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045389 p.Arg283Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045390 p.Thr284Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045391 p.Thr284Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045392 p.Glu285Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045393 p.Glu285Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045394 p.Glu285Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045395 p.Glu286Val Unclassified - Sporadic cancers TP53 P04637 VAR_045396 p.Glu287Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045397 p.Glu287Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045398 p.Glu287Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045399 p.Glu287Val Unclassified - Sporadic cancers TP53 P04637 VAR_045400 p.Asn288Asp Unclassified - A sporadic cancer TP53 P04637 VAR_045401 p.Asn288Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045402 p.Asn288Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045403 p.Asn288Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045404 p.Asn288Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045405 p.Leu289Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045406 p.Leu289His Unclassified - Sporadic cancers TP53 P04637 VAR_045407 p.Leu289Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045408 p.Leu289Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045409 p.Leu289Val Unclassified - Sporadic cancers TP53 P04637 VAR_045410 p.Arg290Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045411 p.Arg290His Disease rs55819519 Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045412 p.Arg290Leu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045413 p.Lys291Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045414 p.Lys291Met Unclassified - Sporadic cancers TP53 P04637 VAR_045415 p.Lys291Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045416 p.Lys291Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045417 p.Lys291Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045418 p.Lys292Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045419 p.Lys292Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045420 p.Lys292Gln Unclassified - A sporadic cancer TP53 P04637 VAR_045421 p.Lys292Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045422 p.Lys292Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045423 p.Gly293Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045424 p.Gly293Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045425 p.Gly293Val Unclassified - Sporadic cancers TP53 P04637 VAR_045426 p.Gly293Trp Unclassified - A brain tumor with no family history TP53 P04637 VAR_045427 p.Glu294Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045428 p.Glu294Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045429 p.Glu294Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045430 p.Glu294Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045431 p.Glu294Val Unclassified - Sporadic cancers TP53 P04637 VAR_045432 p.Pro295His Unclassified - A sporadic cancer TP53 P04637 VAR_045433 p.Pro295Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045434 p.Pro295Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045435 p.Pro295Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045436 p.His296Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045437 p.His296Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045438 p.His296Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045439 p.His296Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045440 p.His296Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045441 p.His297Asp Unclassified - A sporadic cancer TP53 P04637 VAR_045442 p.His297Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045443 p.His297Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045444 p.His297Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045445 p.His297Tyr Unclassified - Sporadic cancers TP53 P04637 VAR_045446 p.Glu298Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045447 p.Glu298Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045448 p.Glu298Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045449 p.Glu298Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045450 p.Glu298Val Unclassified - Sporadic cancers TP53 P04637 VAR_045451 p.Leu299Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045452 p.Leu299Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045453 p.Leu299Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045454 p.Leu299Val Unclassified - A sporadic cancer TP53 P04637 VAR_045455 p.Pro300Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045456 p.Pro300Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045457 p.Pro300Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045458 p.Pro301Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045459 p.Pro301Gln Unclassified - Sporadic cancers TP53 P04637 VAR_045460 p.Pro301Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045461 p.Gly302Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045462 p.Gly302Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045463 p.Ser303Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045464 p.Ser303Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045465 p.Ser303Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045466 p.Ser303Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045467 p.Thr304Ala Unclassified - Sporadic cancers TP53 P04637 VAR_045468 p.Thr304Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045469 p.Thr304Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045470 p.Lys305Glu Unclassified - A sporadic cancer TP53 P04637 VAR_045471 p.Lys305Met Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_045472 p.Lys305Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045473 p.Lys305Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045474 p.Lys305Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045475 p.Arg306Pro Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045476 p.Ala307Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045477 p.Ala307Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045478 p.Leu308Met Unclassified - Sporadic cancers TP53 P04637 VAR_045479 p.Leu308Val Unclassified - A sporadic cancer TP53 P04637 VAR_045480 p.Pro309Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045481 p.Asn310Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045482 p.Asn310Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045483 p.Asn311His Unclassified - Sporadic cancers TP53 P04637 VAR_045484 p.Asn311Lys Unclassified - A sporadic cancer TP53 P04637 VAR_045485 p.Asn311Ser Unclassified rs56184981 A sporadic cancer TP53 P04637 VAR_045486 p.Asn311Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045487 p.Thr312Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045488 p.Thr312Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045489 p.Ser313Cys Unclassified - A sporadic cancer TP53 P04637 VAR_045490 p.Ser313Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045491 p.Ser313Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045492 p.Ser313Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045493 p.Ser314Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045494 p.Ser315Cys Unclassified - A sporadic cancer TP53 P04637 VAR_045495 p.Ser315Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045496 p.Ser315Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045497 p.Pro316Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045498 p.Pro316Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045499 p.Gln317His Unclassified - A kidney cancer with no family history TP53 P04637 VAR_045500 p.Gln317Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045501 p.Gln317Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045502 p.Gln317Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045503 p.Pro318Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045504 p.Lys319Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045505 p.Lys319Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045506 p.Lys319Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045507 p.Lys320Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045508 p.Lys321Glu Unclassified - Kidney cancer TP53 P04637 VAR_045509 p.Lys321Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045510 p.Pro322Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045511 p.Pro322Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045512 p.Leu323Met Unclassified - A sporadic cancer TP53 P04637 VAR_045513 p.Leu323Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045514 p.Leu323Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045515 p.Asp324Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045516 p.Asp324Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_045517 p.Gly325Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045518 p.Gly325Glu Unclassified - Sporadic cancers TP53 P04637 VAR_045519 p.Glu326Gly Unclassified - A sporadic cancer TP53 P04637 VAR_045520 p.Tyr327His Unclassified - A sporadic cancer TP53 P04637 VAR_045521 p.Tyr327Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045522 p.Phe328Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045523 p.Phe328Ser Unclassified - Sporadic cancers TP53 P04637 VAR_045524 p.Phe328Val Unclassified - A sporadic cancer TP53 P04637 VAR_045525 p.Thr329Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045526 p.Thr329Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045527 p.Leu330His Unclassified - Sporadic cancers TP53 P04637 VAR_045528 p.Leu330Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045529 p.Gln331His Unclassified - Sporadic cancers TP53 P04637 VAR_045530 p.Gln331Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045531 p.Gln331Arg Unclassified - Sporadic cancers TP53 P04637 VAR_045532 p.Ile332Val Unclassified - A sporadic cancer TP53 P04637 VAR_045533 p.Gly334Trp Unclassified - A sporadic cancer TP53 P04637 VAR_045534 p.Arg335Gly Unclassified - A sporadic cancer TP53 P04637 VAR_045535 p.Arg335His Unclassified - A sporadic cancer TP53 P04637 VAR_045536 p.Arg335Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045537 p.Arg337Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045538 p.Arg337Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045539 p.Phe338Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045540 p.Phe338Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045541 p.Glu339Gln Unclassified - A sporadic cancer TP53 P04637 VAR_045542 p.Phe341Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045543 p.Arg342Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045544 p.Arg342Pro Unclassified - Sporadic cancers TP53 P04637 VAR_045545 p.Glu343Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045546 p.Leu344Pro Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_045547 p.Leu344Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045548 p.Glu346Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045549 p.Ala347Gly Unclassified - A sporadic cancer TP53 P04637 VAR_045550 p.Ala347Thr Unclassified - Sporadic cancers TP53 P04637 VAR_045551 p.Leu348Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045552 p.Leu348Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045553 p.Glu349Asp Unclassified - A sporadic cancer TP53 P04637 VAR_045554 p.Asp352His Unclassified - A sporadic cancer TP53 P04637 VAR_045555 p.Ala353Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045556 p.Gln354Glu Unclassified - A sporadic cancer TP53 P04637 VAR_045557 p.Gln354Lys Unclassified - A sporadic cancer TP53 P04637 VAR_045558 p.Gly356Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045559 p.Gly356Trp Unclassified - A sporadic cancer TP53 P04637 VAR_045560 p.Glu358Asp Unclassified - A sporadic cancer TP53 P04637 VAR_045561 p.Glu358Lys Unclassified - A sporadic cancer TP53 P04637 VAR_045562 p.Gly360Ala Polymorphism rs35993958 - TP53 P04637 VAR_045563 p.Gly360Val Unclassified - A sporadic cancer TP53 P04637 VAR_045564 p.Arg363Lys Unclassified - A sporadic cancer TP53 P04637 VAR_045565 p.Ala364Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045566 p.Ala364Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045567 p.Ala364Val Unclassified - A sporadic cancer TP53 P04637 VAR_045568 p.His365Tyr Unclassified - A familial cancer not matching LFS TP53 P04637 VAR_045569 p.Lys370Gln Unclassified - A sporadic cancer TP53 P04637 VAR_045570 p.Ser376Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045571 p.Ser376Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045572 p.Arg379His Unclassified - Sporadic cancers TP53 P04637 VAR_045573 p.Phe385Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045574 p.Gly389Trp Unclassified - A sporadic cancer TP53 P04637 VAR_045575 p.Ser392Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045783 p.Gly59Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045784 p.Pro72Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045785 p.Pro72Gly Unclassified - Sporadic cancers TP53 P04637 VAR_045786 p.Pro72His Unclassified - Sporadic cancers TP53 P04637 VAR_045787 p.Pro72Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045788 p.Phe113Gly Unclassified - A sporadic cancer TP53 P04637 VAR_045789 p.Tyr126Gly Unclassified - A sporadic cancer TP53 P04637 VAR_045790 p.Lys132Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045791 p.Lys132Trp Unclassified - A sporadic cancer TP53 P04637 VAR_045792 p.Cys135Thr Unclassified - A sporadic cancer TP53 P04637 VAR_045793 p.Cys141Ala Unclassified - A sporadic cancer TP53 P04637 VAR_045794 p.Pro142Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045795 p.Pro153Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045796 p.Gly154Ile Unclassified - Sporadic cancers TP53 P04637 VAR_045797 p.Arg158Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045798 p.Arg158Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_045799 p.Ala159Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045800 p.Ala161Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045801 p.His168Val Unclassified - A sporadic cancer TP53 P04637 VAR_045802 p.Val173Trp Unclassified - A sporadic cancer TP53 P04637 VAR_045803 p.Pro177Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045804 p.Pro177Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045805 p.Gly187Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045806 p.Ile195Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_045807 p.Asn200Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045808 p.Val203Trp Unclassified - A sporadic cancer TP53 P04637 VAR_045809 p.Asp208Ile Unclassified - A sporadic cancer TP53 P04637 VAR_045810 p.Ser215Lys Unclassified - Sporadic cancers TP53 P04637 VAR_045811 p.Val216Trp Unclassified - A sporadic cancer TP53 P04637 VAR_045812 p.Pro219Cys Unclassified - A sporadic cancer TP53 P04637 VAR_045844 p.Gly226Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045845 p.Asp228Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045846 p.Cys229Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045847 p.Tyr234Lys Unclassified - A sporadic cancer TP53 P04637 VAR_045848 p.Tyr234Gln Unclassified - A sporadic cancer TP53 P04637 VAR_045849 p.Asn235Met Unclassified - A sporadic cancer TP53 P04637 VAR_045850 p.Cys238His Unclassified - A sporadic cancer TP53 P04637 VAR_045851 p.Gly245Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045852 p.Gly245His Unclassified - A sporadic cancer TP53 P04637 VAR_045853 p.Gly245Leu Unclassified - Sporadic cancers TP53 P04637 VAR_045854 p.Gly245Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045855 p.Asn247Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045856 p.Arg249Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045857 p.Pro250Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045858 p.Pro250Asn Unclassified - Sporadic cancers TP53 P04637 VAR_045859 p.Ile254Asp Unclassified - Sporadic cancers TP53 P04637 VAR_045860 p.Glu258Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045861 p.Asp259Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045862 p.Asp259Ser Unclassified - A sporadic cancer TP53 P04637 VAR_045863 p.Gly262His Unclassified - A sporadic cancer TP53 P04637 VAR_045864 p.Asn268Phe Unclassified - A sporadic cancer TP53 P04637 VAR_045865 p.Glu271Pro Unclassified - A sporadic cancer TP53 P04637 VAR_045866 p.Glu271Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045867 p.Arg273Asn Unclassified - A sporadic cancer TP53 P04637 VAR_045868 p.Arg273Tyr Unclassified - A sporadic cancer TP53 P04637 VAR_045869 p.Pro278Phe Unclassified - Sporadic cancers TP53 P04637 VAR_045870 p.Asp281Arg Unclassified - A sporadic cancer TP53 P04637 VAR_045871 p.Glu286Leu Unclassified - A sporadic cancer TP53 P04637 VAR_045872 p.Lys292Gly Unclassified - A sporadic cancer TP53 P04637 VAR_045873 p.His296Cys Unclassified - Sporadic cancers TP53 P04637 VAR_045874 p.Leu323Gly Unclassified - A sporadic cancer TP53 P04637 VAR_045875 p.Asp324Ser Unclassified - A sporadic cancer TP53 P04637 VAR_047169 p.Asp184Asn Unclassified - Sporadic cancers TP53 P04637 VAR_047172 p.Ile195Leu Unclassified - A sporadic cancer TP53 P04637 VAR_047175 p.Tyr205Phe Unclassified - Sporadic cancers TP53 P04637 VAR_047177 p.His214Gln Unclassified - Sporadic cancers TP53 P04637 VAR_047178 p.Val217Met Polymorphism rs35163653 - TP53 P04637 VAR_047179 p.Pro223Ala Unclassified - A sporadic cancer TP53 P04637 VAR_047180 p.Gly226Asp Unclassified - Sporadic cancers TP53 P04637 VAR_047181 p.His233Arg Unclassified - Sporadic cancers TP53 P04637 VAR_047182 p.Asn235Asp Unclassified - An adrenocortical carcinoma with no family history TP53 P04637 VAR_047183 p.Ser241Thr Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_047186 p.Gly244Ala Unclassified - Sporadic cancers TP53 P04637 VAR_047189 p.Asn247Thr Unclassified - Sporadic cancers TP53 P04637 VAR_047192 p.Pro250Leu Unclassified - Sporadic cancers TP53 P04637 VAR_047193 p.Thr253Pro Unclassified - Sporadic cancers TP53 P04637 VAR_047194 p.Asp259Ala Unclassified - A sporadic cancer TP53 P04637 VAR_047196 p.Gly262Asp Unclassified - Sporadic cancers TP53 P04637 VAR_047197 p.Leu265Arg Unclassified - Sporadic cancers TP53 P04637 VAR_047198 p.Ser269Ile Unclassified - A sporadic cancer TP53 P04637 VAR_047199 p.Glu271Val Unclassified - An osteosarcoma with no family history TP53 P04637 VAR_047200 p.Val274Gly Unclassified - Sporadic cancers TP53 P04637 VAR_047201 p.Cys277Trp Unclassified - Sporadic cancers TP53 P04637 VAR_047202 p.Asp281Asn Disease - Li-Fraumeni syndrome (LFS) [MIM:151623] TP53 P04637 VAR_047204 p.Glu287Ala Unclassified - A sporadic cancer TP53 P04637 VAR_047205 p.Lys291Gln Unclassified - Sporadic cancers TP53 P04637 VAR_047206 p.Glu294Lys Unclassified - Sporadic cancers TP53 P04637 VAR_047207 p.His296Leu Unclassified - Sporadic cancers TP53 P04637 VAR_047208 p.Pro301Thr Unclassified - A sporadic cancer TP53 P04637 VAR_047209 p.Thr304Ser Unclassified - A sporadic cancer TP53 P04637 VAR_047210 p.Gln317Leu Unclassified - A sporadic cancer TP53 P04637 VAR_047211 p.Leu323Val Unclassified - A sporadic cancer TP53 P04637 VAR_047212 p.Leu330Pro Unclassified - A sporadic cancer TP53 P04637 VAR_047213 p.Arg342Gln Unclassified - Sporadic cancers TP53 P04637 VAR_047214 p.Gln354Arg Unclassified - Sporadic cancers TP53 P04637 VAR_047215 p.His365Arg Unclassified - A sporadic cancer TP53RK Q96S44 VAR_014427 p.Ala25Thr Polymorphism - - TP53RK Q96S44 VAR_030870 p.Thr129Ala Polymorphism rs11550540 - TP53RK Q96S44 VAR_041881 p.Arg123Gln Polymorphism rs34983477 - TP53RK Q96S44 VAR_041882 p.Thr145Ala Polymorphism rs56008408 - TP53TG5 Q9Y2B4 VAR_051397 p.Arg57His Polymorphism rs2231616 - TP53TG5 Q9Y2B4 VAR_051398 p.Val172Ala Polymorphism rs2231619 - TP53TG5 Q9Y2B4 VAR_051399 p.Arg191His Polymorphism rs2231620 - TP53TG5 Q9Y2B4 VAR_051400 p.His219Gln Polymorphism rs2231622 - TP53TG5 Q9Y2B4 VAR_051401 p.Pro221Leu Polymorphism rs2231623 - TP53TG5 Q9Y2B4 VAR_051402 p.Val257Ala Polymorphism rs2231627 - TP53TG5 Q9Y2B4 VAR_051403 p.His275Asn Polymorphism rs2231628 - TP63 Q9H3D4 VAR_020866 p.Ser184Leu Unclassified - Neck cancer TP63 Q9H3D4 VAR_020867 p.Ala187Pro Unclassified - Lung carcinoma TP63 Q9H3D4 VAR_020868 p.Gln204Leu Unclassified - Cervical cancer TP63 Q9H3D4 VAR_020869 p.Lys233Glu Disease - Split-hand/foot malformation type 4 (SHFM4) [MIM:605289] TP63 Q9H3D4 VAR_020870 p.Arg243Gln Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020871 p.Arg243Trp Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020872 p.Pro279His Unclassified - Colon cancer TP63 Q9H3D4 VAR_020873 p.Arg318His Disease - Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400] TP63 Q9H3D4 VAR_020873 p.Arg318His Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020874 p.Arg319Cys Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020875 p.Arg337Gln Disease - Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] TP63 Q9H3D4 VAR_020876 p.Arg343Gln Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020877 p.Cys345Arg Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020878 p.Asp351Gly Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_020879 p.Leu553Phe Disease - Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260] TP63 Q9H3D4 VAR_020880 p.Ser560Ala Unclassified - Ovarian cancer TP63 Q9H3D4 VAR_020881 p.Cys561Gly Disease - Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260] TP63 Q9H3D4 VAR_032737 p.Lys232Glu Disease - Split-hand/foot malformation type 4 (SHFM4) [MIM:605289] TP63 Q9H3D4 VAR_032738 p.Arg266Gln Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032739 p.Cys308Tyr Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032740 p.Ser311Asn Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032741 p.Arg318Cys Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032742 p.Arg318Gln Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032743 p.Arg319His Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032743 p.Arg319His Disease - Split-hand/foot malformation type 4 (SHFM4) [MIM:605289] TP63 Q9H3D4 VAR_032744 p.Arg319Ser Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032745 p.Arg343Trp Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032746 p.Cys347Ser Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032747 p.Pro348Ser Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_032748 p.Asp351His Disease - Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] TP63 Q9H3D4 VAR_035126 p.Ser129Leu Polymorphism - - TP63 Q9H3D4 VAR_035127 p.Arg352Gly Disease - Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400] TP63 Q9H3D4 VAR_035127 p.Arg352Gly Disease - Non-syndromic orofacial cleft type 8 (OFC8) [MIM:129400] TP63 Q9H3D4 VAR_035128 p.Ile549Thr Disease - Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400] TP63 Q9H3D4 VAR_035129 p.Ser580Pro Disease - Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400] TP63 Q9H3D4 VAR_035130 p.Asp603His Polymorphism - - TP73-AS1 Q9UF72 VAR_046333 p.Pro120Leu Polymorphism rs35766062 - TPCN2 Q8NHX9 VAR_030492 p.Lys376Arg Polymorphism rs3750965 - TPCN2 Q8NHX9 VAR_030493 p.Leu564Pro Polymorphism rs2376558 - TPCN2 Q8NHX9 VAR_030494 p.Gly734Glu Polymorphism rs3829241 - TPCN2 Q8NHX9 VAR_047956 p.Met484Leu Polymorphism rs35264875 - TPD52L1 Q16890 VAR_034568 p.Arg62Lys Polymorphism rs6905231 - TPD52L3 Q96J77 VAR_033372 p.Phe118Leu Polymorphism rs3847262 - TPD52 P55327 VAR_061860 p.Asp52Tyr Polymorphism rs35099105 - TPGS2 Q68CL5 VAR_027410 p.Arg47Cys Polymorphism rs2303507 - TPH2 Q8IWU9 VAR_026749 p.Arg441His Polymorphism - - TPH2 Q8IWU9 VAR_046136 p.Pro206Ser Polymorphism rs17110563 - TPH2 Q8IWU9 VAR_058938 p.Leu36Pro Unclassified - - TPH2 Q8IWU9 VAR_058939 p.Leu36Val Polymorphism rs34115267 - TPH2 Q8IWU9 VAR_058940 p.Ser41Tyr Unclassified - - TPH2 Q8IWU9 VAR_058941 p.Arg55Cys Unclassified - - TPH2 Q8IWU9 VAR_058942 p.Arg303Trp Disease - Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003] TPH2 Q8IWU9 VAR_058943 p.Ala328Val Polymorphism rs2887147 - TPH2 Q8IWU9 VAR_058944 p.Asp479Glu Polymorphism rs7488262 - TPH2 Q8IWU9 VAR_065019 p.Arg433Gly Unclassified - - TPH2 Q8IWU9 VAR_065020 p.Gln468Arg Unclassified - - TPI1 P60174 VAR_007534 p.Cys79Tyr Disease - Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] TPI1 P60174 VAR_007535 p.Gly110Ala Disease - Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] TPI1 P60174 VAR_007536 p.Glu142Asp Disease - Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] TPI1 P60174 VAR_007537 p.Gly160Arg Unclassified - - TPI1 P60174 VAR_007538 p.Val192Met Disease - Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] TPI1 P60174 VAR_007539 p.Ile208Val Disease - Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] TPI1 P60174 VAR_007540 p.Val269Met Disease - Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] TPI1 P60174 VAR_007541 p.Phe278Leu Disease - Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] TPM1 P09493 VAR_007601 p.Asp175Asn Disease rs28934270 Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196] TPM1 P09493 VAR_007602 p.Glu180Gly Disease rs28934269 Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196] TPM1 P09493 VAR_013135 p.Ala63Val Disease - Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196] TPM1 P09493 VAR_029452 p.Glu180Val Disease - Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196] TPM1 P09493 VAR_043986 p.Glu40Lys Disease - Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878] TPM1 P09493 VAR_043987 p.Glu54Lys Disease - Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878] TPM2 P07951 VAR_013468 p.Glu117Ala Disease - Nemaline myopathy type 4 (NEM4) [MIM:609285] TPM2 P07951 VAR_013469 p.Gln147Pro Disease - Nemaline myopathy type 4 (NEM4) [MIM:609285] TPM2 P07951 VAR_016086 p.Arg91Gly Disease - Distal arthrogryposis type 1A (DA1A) [MIM:108120] TPM2 P07951 VAR_052402 p.Glu273Lys Polymorphism rs3180843 - TPM3 P06753 VAR_013460 p.Met8Arg Disease - Nemaline myopathy type 1 (NEM1) [MIM:609284] TPM4 P67936 VAR_036535 p.Glu204Gln Unclassified - A breast cancer sample TPMT P51580 VAR_005636 p.Leu49Ser Polymorphism rs72552740 - TPMT P51580 VAR_005637 p.Ala80Pro Disease rs1800462 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460] TPMT P51580 VAR_005638 p.Ala154Thr Disease rs1800460 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460] TPMT P51580 VAR_005639 p.Tyr180Phe Polymorphism - - TPMT P51580 VAR_005640 p.His227Gln Disease rs72552736 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460] TPMT P51580 VAR_005641 p.Tyr240Cys Disease rs1142345 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460] TPMT P51580 VAR_008715 p.Arg215His Disease rs56161402 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460] TPMT P51580 VAR_052368 p.Gln179His Polymorphism rs6921269 - TPO P07202 VAR_006057 p.Ala257Ser Polymorphism rs4927611 - TPO P07202 VAR_006058 p.Ala373Ser Polymorphism rs2280132 - TPO P07202 VAR_006059 p.Ser398Thr Polymorphism rs2175977 - TPO P07202 VAR_006060 p.Tyr453Asp Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_006061 p.Thr725Pro Polymorphism rs732609 - TPO P07202 VAR_006062 p.Glu799Lys Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_013138 p.Arg648Gln Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_015375 p.Ile447Phe Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021622 p.Ala53Pro Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021623 p.Asp240Asn Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021624 p.Asn307Thr Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021625 p.Ala326Thr Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021626 p.Val433Met Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021627 p.Leu458Pro Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021628 p.Arg491His Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021629 p.Gly493Ser Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021630 p.Pro499Leu Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021631 p.Trp527Cys Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021632 p.Gln660Glu Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021633 p.Arg665Trp Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021634 p.Arg693Trp Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021635 p.Gly771Arg Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021636 p.Asp796Tyr Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_021637 p.Cys808Arg Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_025784 p.Glu378Lys Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_027229 p.Gly533Cys Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_027231 p.Gly590Ser Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_027232 p.Val618Met Polymorphism rs10189135 - TPO P07202 VAR_027233 p.Met706Val Polymorphism rs13431173 - TPO P07202 VAR_027234 p.Leu793Pro Polymorphism rs28991293 - TPO P07202 VAR_027235 p.Val839Ile Disease - Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] TPO P07202 VAR_027236 p.Arg846Trp Polymorphism rs28913014 - TPO P07202 VAR_027237 p.Val847Ala Polymorphism rs1126799 - TPP1 O14773 VAR_005642 p.Arg175His Polymorphism - - TPP1 O14773 VAR_005643 p.Cys365Arg Disease rs119455953 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_005644 p.Cys365Tyr Disease rs119455954 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_005645 p.Arg447His Disease rs119455956 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009603 p.Gly77Arg Disease rs121908195 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009604 p.Gln100Arg Polymorphism rs1800746 - TPP1 O14773 VAR_009605 p.Arg206Cys Disease rs28940573 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009606 p.Ile287Asn Disease rs121908196 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009607 p.Glu343Lys Disease rs121908197 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009608 p.Val385Asp Disease rs121908198 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009609 p.Gly389Glu Disease rs121908199 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009610 p.Gln422His Disease rs121908200 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009611 p.Ala454Glu Disease rs121908201 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_009612 p.Ser475Leu Disease rs121908202 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016790 p.Arg127Gln Disease rs121908204 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016791 p.Ser153Pro Disease - Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016792 p.Arg206His Disease rs121908209 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016793 p.Val277Met Disease rs121908207 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016794 p.Gln278Pro Disease - Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016795 p.Gly284Val Disease rs119455957 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016796 p.Asn286Ser Disease rs119455958 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016797 p.Thr353Pro Disease rs121908206 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016798 p.Lys428Asn Disease - Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016799 p.Gly473Arg Disease rs121908203 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_016800 p.Phe481Cys Disease - Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_037572 p.Ser62Leu Polymorphism rs2734715 - TPP1 O14773 VAR_037573 p.Arg185Cys Polymorphism rs34758634 - TPP1 O14773 VAR_058435 p.Gly482Arg Disease rs121908208 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_063640 p.Pro202Leu Disease rs121908205 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPP1 O14773 VAR_063641 p.Pro544Ser Disease rs121908210 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] TPPP2 P59282 VAR_059147 p.Arg133Leu Polymorphism rs9624 - TPR P12270 VAR_020429 p.Ser960Asn Polymorphism rs3753565 - TPR P12270 VAR_047289 p.Val1428Gly Polymorphism rs35550453 - TPR P12270 VAR_047290 p.Thr1707Ala Polymorphism rs35766045 - TPSAB1 Q15661 VAR_014557 p.Ala18Val Polymorphism rs1800984 - TPSAB1 Q15661 VAR_014558 p.Gly23Val Polymorphism rs1141965 - TPSAB1 Q15661 VAR_014559 p.Ala85Thr Polymorphism rs1141968 - TPSAB1 Q15661 VAR_014560 p.Thr141Ala Polymorphism rs1800992 - TPSAB1 Q15661 VAR_014561 p.Asp162Asn Polymorphism rs2234641 - TPSAB1 Q15661 VAR_014562 p.Pro170Ser Polymorphism rs2234904 - TPSAB1 Q15661 VAR_014563 p.Thr215Ser Polymorphism rs2234905 - TPSAB1 Q15661 VAR_014564 p.Arg216Gln Polymorphism rs2234906 - TPSAB1 Q15661 VAR_016102 p.Asn132Lys Polymorphism rs1800991 - TPSAB1 Q15661 VAR_051830 p.His136Arg Polymorphism rs1064780 - TPSAB1 Q15661 VAR_064277 p.Asn3Ser Polymorphism - - TPSAB1 Q15661 VAR_064278 p.Arg15Pro Polymorphism rs61729112 - TPSAB1 Q15661 VAR_064279 p.Arg28Gln Polymorphism rs1064770 - TPSAB1 Q15661 VAR_064280 p.Val29Ala Polymorphism rs1064771 - TPSAB1 Q15661 VAR_064281 p.His51Arg Polymorphism rs1060281 - TPSAB1 Q15661 VAR_064282 p.Gly52Asp Polymorphism rs17841227 - TPSAB1 Q15661 VAR_064283 p.Pro53Arg Polymorphism rs17841226 - TPSAB1 Q15661 VAR_064284 p.Val76Leu Polymorphism rs71384640 - TPSAB1 Q15661 VAR_064285 p.Thr115Ile Polymorphism rs1064774 - TPSAB1 Q15661 VAR_064286 p.Ala116Ile Polymorphism - - TPSAB1 Q15661 VAR_064287 p.Ile118Thr Polymorphism rs71376589 - TPSAB1 Q15661 VAR_064288 p.Val133Ile Polymorphism rs1064779 - TPSAB1 Q15661 VAR_064289 p.Thr141Met Polymorphism - - TPSAB1 Q15661 VAR_064290 p.Arg168Pro Polymorphism rs1141969 - TPSAB1 Q15661 VAR_064291 p.Val205Ile Polymorphism rs1060284 - TPSAB1 Q15661 VAR_064292 p.Gln221Lys Polymorphism rs17841224 - TPSAB1 Q15661 VAR_064293 p.Gly245Asp Polymorphism rs1060292 - TPSAB1 Q15661 VAR_064294 p.Tyr263Asn Polymorphism rs2234646 - TPSD1 Q9BZJ3 VAR_016870 p.Pro22Arg Polymorphism rs3865205 - TPSD1 Q9BZJ3 VAR_016871 p.Val25Ala Polymorphism rs1800984 - TPSD1 Q9BZJ3 VAR_016872 p.Val83Met Polymorphism rs3993987 - TPSG1 Q9NRR2 VAR_012097 p.Met60Val Polymorphism rs760357 - TPSG1 Q9NRR2 VAR_012098 p.Ile126Met Polymorphism - - TPSG1 Q9NRR2 VAR_012099 p.Ser132Thr Polymorphism - - TPSG1 Q9NRR2 VAR_012100 p.Leu204Ile Polymorphism - - TPSG1 Q9NRR2 VAR_012101 p.Leu288Phe Polymorphism rs1004041 - TPSG1 Q9NRR2 VAR_025012 p.Trp160Ser Polymorphism rs4984638 - TPSG1 Q9NRR2 VAR_061773 p.Thr239Ile Polymorphism rs11248860 - TPT1 P13693 VAR_052273 p.Val146Phe Polymorphism rs3087989 - TPTE2 Q6XPS3 VAR_047501 p.Val367Ile Polymorphism rs2497218 - TPTE2 Q6XPS3 VAR_057349 p.Ile444Val Polymorphism rs2497218 - TPTE P56180 VAR_025400 p.Leu470Pro Polymorphism rs150482 - TPTE P56180 VAR_036516 p.Arg144Gln Unclassified - A breast cancer sample TPTE P56180 VAR_057347 p.Arg195Gln Polymorphism rs1810856 - TPTE P56180 VAR_057348 p.Gly549Glu Polymorphism rs169758 - TPTE P56180 VAR_061895 p.Tyr482Ser Polymorphism rs9996 - TPTE P56180 VAR_065097 p.Lys386Glu Polymorphism rs212146 - TPX2 Q9ULW0 VAR_036269 p.Thr464Asn Unclassified - A colorectal cancer sample TRABD2A Q86V40 VAR_039920 p.Arg143His Polymorphism rs1863772 - TRABD2A Q86V40 VAR_039921 p.Arg428Gln Polymorphism rs2288352 - TRABD2A Q86V40 VAR_039922 p.Pro430Leu Polymorphism rs1649292 - TRAF1 Q13077 VAR_054161 p.Met139Thr Polymorphism - - TRAF3IP1 Q8TDR0 VAR_034841 p.Asn228Ser Polymorphism rs3769110 - TRAF3IP1 Q8TDR0 VAR_034842 p.Arg239Trp Polymorphism rs34723381 - TRAF3IP1 Q8TDR0 VAR_034843 p.Met620Leu Polymorphism rs3739070 - TRAF3IP1 Q8TDR0 VAR_051185 p.Lys295Asn Polymorphism rs12464423 - TRAF3IP1 Q8TDR0 VAR_061685 p.Thr416Ser Polymorphism rs58277463 - TRAF3IP2 O43734 VAR_024307 p.His332Gln Polymorphism rs1043730 - TRAF3IP2 O43734 VAR_031227 p.Arg83Trp Polymorphism rs13190932 - TRAF3IP2 O43734 VAR_047349 p.Asp19Asn Disease rs33980500 Psoriasis type 13 (PSORS13) [MIM:614070] TRAF3IP3 Q9Y228 VAR_024283 p.Gln373Glu Polymorphism rs669694 - TRAF3IP3 Q9Y228 VAR_035664 p.Pro529Ser Unclassified - A colorectal cancer sample TRAF3 Q13114 VAR_052149 p.Met129Thr Polymorphism rs1131877 - TRAF4 Q9BUZ4 VAR_025805 p.Ala173Thr Polymorphism rs35932778 - TRAF4 Q9BUZ4 VAR_052150 p.Arg178Gly Polymorphism rs1044066 - TRAF5 O00463 VAR_020117 p.Asn186His Polymorphism rs2271458 - TRAF5 O00463 VAR_052151 p.Val120Gly Polymorphism rs3946808 - TRAF5 O00463 VAR_052152 p.Leu358Val Polymorphism rs2230780 - TRAK2 O60296 VAR_014201 p.Val142Ile Polymorphism rs13022344 - TRAK2 O60296 VAR_014434 p.Thr528Ile Polymorphism rs2244438 - TRAK2 O60296 VAR_051458 p.Ile863Asn Polymorphism rs34594680 - TRANK1 O15050 VAR_046117 p.Pro703Leu Polymorphism rs17201603 - TRANK1 O15050 VAR_046118 p.Glu1090Gly Polymorphism rs11712950 - TRANK1 O15050 VAR_061021 p.Pro153Leu Polymorphism rs17201603 - TRAP1 Q12931 VAR_016108 p.Arg307Gly Polymorphism rs13926 - TRAP1 Q12931 VAR_049625 p.Asp395Glu Polymorphism rs1136948 - TRAP1 Q12931 VAR_049626 p.Arg692His Polymorphism rs2791 - TRAP1 Q12931 VAR_061272 p.Glu572Lys Polymorphism rs55766649 - TRAPPC10 P48553 VAR_009514 p.Val257Glu Polymorphism - - TRAPPC10 P48553 VAR_009515 p.Ile633Met Polymorphism rs915877 - TRAPPC10 P48553 VAR_009516 p.Val726Met Polymorphism rs2071152 - TRAPPC12 Q8WVT3 VAR_028442 p.Ser301Gly Polymorphism rs11686212 - TRAPPC12 Q8WVT3 VAR_035869 p.Glu717Gln Unclassified - A breast cancer sample TRAPPC1 Q9Y5R8 VAR_013028 p.Arg129Gly Unclassified - A melanoma TRAPPC2 P0DI81 VAR_012358 p.Asp47Tyr Disease - Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] TRAPPC2 P0DI81 VAR_012359 p.Ser73Leu Disease - Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] TRAPPC2 P0DI81 VAR_012360 p.Val130Asp Disease - Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] TRAPPC2 P0DI81 VAR_012361 p.Phe83Ser Disease - Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] TRAPPC4 Q9Y296 VAR_052397 p.Asp78Ala Polymorphism rs11640 - TRAPPC5 Q8IUR0 VAR_052398 p.Ser52Ala Polymorphism rs6952 - TRAPPC8 Q9Y2L5 VAR_036270 p.Arg537Gln Unclassified - A breast cancer sample TRAPPC8 Q9Y2L5 VAR_057814 p.Asn74Ser Polymorphism rs34292533 - TRAPPC8 Q9Y2L5 VAR_057815 p.Gln708Glu Polymorphism rs16962530 - TRAPPC8 Q9Y2L5 VAR_057816 p.Ile1189Val Polymorphism rs36034613 - TRAPPC8 Q9Y2L5 VAR_060250 p.Leu137Ser Polymorphism rs6506948 - TRAPPC8 Q9Y2L5 VAR_060251 p.Ser517Gly Polymorphism rs17857486 - TRAPPC8 Q9Y2L5 VAR_060252 p.Arg954His Polymorphism rs2170562 - TRAPPC8 Q9Y2L5 VAR_060253 p.Thr1146Ala Polymorphism rs3737374 - TRAPPC8 Q9Y2L5 VAR_060254 p.Ser1298Pro Polymorphism rs633500 - TRAT1 Q6PIZ9 VAR_062195 p.Asp137Gly Polymorphism rs57744779 - TRAT1 Q6PIZ9 VAR_062196 p.Ser148Pro Polymorphism rs61585973 - TRDMT1 O14717 VAR_051961 p.His101Tyr Polymorphism rs11254413 - TRDN Q13061 VAR_057008 p.Thr128Ser Polymorphism rs9490809 - TRDN Q13061 VAR_057009 p.Ser339Asn Polymorphism rs35766971 - TRDN Q13061 VAR_057010 p.Val404Gly Polymorphism rs28494009 - TRDN Q13061 VAR_057011 p.Asp419Glu Polymorphism rs17737379 - TRDN Q13061 VAR_057012 p.Leu470Met Polymorphism rs6569336 - TRDN Q13061 VAR_057013 p.Ile540Met Polymorphism rs7771303 - TRDN Q13061 VAR_065263 p.Leu201Val Polymorphism rs6902416 - TRDN Q13061 VAR_065264 p.Lys396Asn Polymorphism rs6901953 - TRDN Q13061 VAR_065265 p.Ile438Ser Polymorphism rs2873479 - TREH O43280 VAR_049205 p.Thr389Ala Polymorphism rs2276065 - TREH O43280 VAR_049206 p.Tyr449His Polymorphism rs11827611 - TREH O43280 VAR_049207 p.Arg486Trp Polymorphism rs2276064 - TREH O43280 VAR_049208 p.Ala558Pro Polymorphism rs6589671 - TREH O43280 VAR_061191 p.Ala561Pro Polymorphism rs6589670 - TREM1 Q9NP99 VAR_019333 p.Thr25Ser Polymorphism rs2234237 - TREM1 Q9NP99 VAR_033624 p.Phe214Leu Polymorphism rs2234245 - TREM1 Q9NP99 VAR_035525 p.Arg97Ser Unclassified - A breast cancer sample TREM1 Q9NP99 VAR_049949 p.Lys135Thr Polymorphism rs34727391 - TREM2 Q9NZC2 VAR_019334 p.Asp134Gly Disease - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770] TREM2 Q9NZC2 VAR_019335 p.Lys186Asn Disease - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770] TREM2 Q9NZC2 VAR_033625 p.His157Tyr Polymorphism rs2234255 - TREM2 Q9NZC2 VAR_033626 p.Leu211Pro Polymorphism rs2234256 - TREM2 Q9NZC2 VAR_061329 p.Thr96Lys Polymorphism rs2234253 - TREM2 Q9NZC2 VAR_061330 p.Thr96Arg Polymorphism rs2234253 - TREML1 Q86YW5 VAR_035526 p.Leu6Val Unclassified - A breast cancer sample TREML1 Q86YW5 VAR_049950 p.His231Pro Polymorphism rs34254490 - TREML2 Q5T2D2 VAR_055418 p.Val50Met Polymorphism rs35512890 - TREML2 Q5T2D2 VAR_055419 p.Ser144Gly Polymorphism rs3747742 - TREML2 Q5T2D2 VAR_055420 p.Val285Ile Polymorphism rs35521209 - TREML2 Q5T2D2 VAR_059412 p.Gly19Cys Polymorphism rs4418164 - TREML4 Q6UXN2 VAR_035390 p.Trp73Arg Polymorphism rs9369265 - TREML4 Q6UXN2 VAR_035391 p.Thr146Lys Polymorphism rs9471515 - TREML4 Q6UXN2 VAR_035392 p.Thr168Ile Polymorphism rs7769759 - TRERF1 Q96PN7 VAR_050197 p.Thr431Ala Polymorphism rs35162277 - TRERF1 Q96PN7 VAR_050198 p.Cys834Ser Polymorphism rs2295275 - TRERF1 Q96PN7 VAR_050199 p.Asn1019Thr Polymorphism rs35978318 - TRERF1 Q96PN7 VAR_050200 p.Asp1187Asn Polymorphism rs11751765 - TRERF1 Q96PN7 VAR_061362 p.Val766Ile Polymorphism rs59159203 - TREX1 Q9NSU2 VAR_028319 p.Arg169His Disease - Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_028319 p.Arg169His Disease - Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_028321 p.Val256Asp Disease - Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_032940 p.Asp255Asn Disease - Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_037948 p.Asp73Asn Disease - Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750] TREX1 Q9NSU2 VAR_037948 p.Asp73Asn Disease - Chilblain lupus type 1 (CHBL1) [MIM:610448] TREX1 Q9NSU2 VAR_037949 p.Ala213Val Disease - Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037950 p.Gly282Ser Disease - Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037951 p.Arg295Ser Disease - Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037952 p.Ala302Pro Disease - Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037953 p.Glu321Gly Polymorphism rs55999987 - TREX1 Q9NSU2 VAR_037954 p.Pro345Leu Disease - Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037955 p.Tyr360Cys Disease - Systemic lupus erythematosus (SLE) [MIM:152700] TREX1 Q9NSU2 VAR_037956 p.Gly361Ala Disease - Systemic lupus erythematosus (SLE) [MIM:152700] TREX2 Q9BQ50 VAR_025211 p.Arg180Cys Polymorphism - - TRH P20396 VAR_014787 p.Leu8Val Polymorphism rs5658 - TRHR P34981 VAR_011857 p.Asn10Lys Polymorphism rs5774 - TRHR P34981 VAR_049450 p.Ile168Met Polymorphism rs13306060 - TRIB1 Q96RU8 VAR_042364 p.Ser173Arg Polymorphism rs56285697 - TRIB1 Q96RU8 VAR_042365 p.Thr215Met Polymorphism rs34349706 - TRIB1 Q96RU8 VAR_042366 p.Val267Ile Polymorphism rs56056430 - TRIB1 Q96RU8 VAR_042367 p.Arg298Cys Polymorphism rs55953723 - TRIB1 Q96RU8 VAR_042368 p.Glu360Ala Polymorphism rs35454769 - TRIB1 Q96RU8 VAR_042369 p.Glu360Asp Polymorphism rs16900603 - TRIB1 Q96RU8 VAR_042370 p.Phe371Leu Unclassified - A lung large cell carcinoma sample TRIB2 Q92519 VAR_042371 p.His4Arg Polymorphism rs55813198 - TRIB3 Q96RU7 VAR_023965 p.Gln84Arg Polymorphism rs2295490 - TRIB3 Q96RU7 VAR_042372 p.Thr60Ile Unclassified - A glioblastoma multiforme sample TRIB3 Q96RU7 VAR_042373 p.Arg153His Polymorphism rs35051116 - TRIB3 Q96RU7 VAR_042374 p.Arg274His Polymorphism rs56291463 - TRIB3 Q96RU7 VAR_042375 p.Glu347Lys Polymorphism rs56342286 - TRIL Q7L0X0 VAR_046307 p.Asn240Ser Polymorphism rs740250 - TRIL Q7L0X0 VAR_046308 p.Ala347Thr Polymorphism rs3735561 - TRIL Q7L0X0 VAR_046309 p.Gly369Asp Polymorphism rs3735562 - TRIM10 Q9UDY6 VAR_052127 p.Arg65His Polymorphism rs12212092 - TRIM10 Q9UDY6 VAR_052128 p.Val119Met Polymorphism rs17194446 - TRIM13 O60858 VAR_013512 p.Ser355Thr Polymorphism rs1056543 - TRIM14 Q14142 VAR_048399 p.Val219Met Polymorphism rs2296079 - TRIM15 Q9C019 VAR_014228 p.Ile29Val Polymorphism rs17194460 - TRIM15 Q9C019 VAR_052129 p.Ala42Thr Polymorphism rs17194467 - TRIM15 Q9C019 VAR_052130 p.Glu84Gln Polymorphism rs17194474 - TRIM15 Q9C019 VAR_052131 p.Leu235Val Polymorphism rs34823152 - TRIM15 Q9C019 VAR_052132 p.Ser324Asn Polymorphism rs929156 - TRIM16 O95361 VAR_017412 p.Glu121Asp Polymorphism rs2074890 - TRIM16 O95361 VAR_031668 p.Gly561Val Polymorphism rs1060903 - TRIM16 O95361 VAR_052133 p.Arg493Trp Polymorphism rs3174720 - TRIM21 P19474 VAR_013749 p.Pro52Ala Polymorphism rs1042302 - TRIM21 P19474 VAR_013750 p.Gly96Arg Polymorphism rs2975162 - TRIM21 P19474 VAR_013751 p.Glu231Lys Polymorphism rs2554934 - TRIM21 P19474 VAR_061821 p.Gln88Lys Polymorphism rs58403334 - TRIM22 Q8IYM9 VAR_052134 p.Asp155Asn Polymorphism rs7935564 - TRIM22 Q8IYM9 VAR_052135 p.Thr232Ala Polymorphism rs2291843 - TRIM22 Q8IYM9 VAR_052136 p.Arg242Thr Polymorphism rs1063303 - TRIM22 Q8IYM9 VAR_052137 p.Arg321Lys Polymorphism rs12364019 - TRIM23 P36406 VAR_048320 p.Asp480Asn Polymorphism rs34046496 - TRIM24 O15164 VAR_042382 p.Ile320Thr Unclassified - An ovarian serous carcinoma sample TRIM24 O15164 VAR_042383 p.Thr403Asn Unclassified - A lung squamous cell carcinoma sample TRIM24 O15164 VAR_042384 p.Ser762Asn Polymorphism - - TRIM24 O15164 VAR_042385 p.Arg1009Ser Polymorphism rs34585297 - TRIM24 O15164 VAR_052148 p.Asn796Ser Polymorphism rs35356723 - TRIM25 Q14258 VAR_024614 p.Val89Gly Polymorphism rs7212260 - TRIM25 Q14258 VAR_024615 p.Pro358Leu Polymorphism rs205498 - TRIM26 Q12899 VAR_052138 p.Gln197His Polymorphism rs17194565 - TRIM28 Q13263 VAR_042386 p.Thr794Met Polymorphism rs56229738 - TRIM29 Q14134 VAR_035962 p.Ser514Phe Unclassified - A breast cancer sample TRIM31 Q9BZY9 VAR_019962 p.Glu421Lys Polymorphism rs1116221 - TRIM31 Q9BZY9 VAR_022728 p.Arg118Cys Polymorphism rs3734838 - TRIM31 Q9BZY9 VAR_022729 p.Val232Ile Polymorphism rs2523989 - TRIM31 Q9BZY9 VAR_052139 p.Pro17Arg Polymorphism rs36063651 - TRIM31 Q9BZY9 VAR_052140 p.Leu235Pro Polymorphism rs35775852 - TRIM32 Q13049 VAR_018725 p.Asp487Asn Disease - Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110] TRIM32 Q13049 VAR_038807 p.Pro130Ser Disease - Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900] TRIM32 Q13049 VAR_038808 p.Thr257Arg Polymorphism rs3747834 - TRIM32 Q13049 VAR_038809 p.Arg408Cys Polymorphism rs3747835 - TRIM32 Q13049 VAR_042939 p.Arg394His Disease - Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110] TRIM33 Q9UPN9 VAR_024616 p.Ile840Thr Polymorphism rs6537825 - TRIM33 Q9UPN9 VAR_029494 p.Val67Ala Polymorphism rs6691166 - TRIM33 Q9UPN9 VAR_042376 p.Met580Ile Unclassified - A glioblastoma multiforme sample TRIM33 Q9UPN9 VAR_042377 p.Leu696Ser Polymorphism rs56151583 - TRIM33 Q9UPN9 VAR_042378 p.Glu811Lys Unclassified - A lung adenocarcinoma sample TRIM33 Q9UPN9 VAR_042379 p.Pro885Ser Unclassified - A glioblastoma multiforme sample TRIM33 Q9UPN9 VAR_042380 p.Val961Met Polymorphism rs55688622 - TRIM33 Q9UPN9 VAR_042381 p.Pro1090Thr Polymorphism rs55784699 - TRIM34 Q9BYJ4 VAR_019825 p.Thr276Ser Polymorphism rs6578670 - TRIM34 Q9BYJ4 VAR_019826 p.Asp282His Polymorphism rs3740997 - TRIM34 Q9BYJ4 VAR_052141 p.Asn404Lys Polymorphism rs16933844 - TRIM36 Q9NQ86 VAR_020490 p.Asp678Asn Polymorphism rs2974617 - TRIM36 Q9NQ86 VAR_023197 p.Lys428Arg Polymorphism - - TRIM36 Q9NQ86 VAR_023198 p.Asn456Ser Polymorphism rs17137481 - TRIM36 Q9NQ86 VAR_057221 p.Gln725Glu Polymorphism rs3749745 - TRIM37 O94972 VAR_052142 p.Val838Ile Polymorphism rs7222388 - TRIM37 O94972 VAR_060217 p.Leu76Pro Disease - Mulibrey nanism (MUL) [MIM:253250] TRIM37 O94972 VAR_060218 p.Thr108Ala Polymorphism rs17853504 - TRIM37 O94972 VAR_060219 p.Cys109Ser Disease - Mulibrey nanism (MUL) [MIM:253250] TRIM37 O94972 VAR_060220 p.Gly322Val Disease - Mulibrey nanism (MUL) [MIM:253250] TRIM38 O00635 VAR_013513 p.Gly421Arg Polymorphism rs10317 - TRIM3 O75382 VAR_052124 p.Leu298Arg Polymorphism rs10128723 - TRIM40 Q6P9F5 VAR_055309 p.Lys142Gln Polymorphism rs12528473 - TRIM40 Q6P9F5 VAR_055310 p.Glu215Lys Polymorphism rs757259 - TRIM40 Q6P9F5 VAR_057222 p.Glu244Lys Polymorphism rs757259 - TRIM41 Q8WV44 VAR_027914 p.Ala78Thr Polymorphism rs6601178 - TRIM41 Q8WV44 VAR_027915 p.Asp438Gly Polymorphism rs2241371 - TRIM42 Q8IWZ5 VAR_034468 p.Val475Met Polymorphism rs28594654 - TRIM42 Q8IWZ5 VAR_034469 p.Ala579Glu Polymorphism rs9876490 - TRIM42 Q8IWZ5 VAR_052143 p.Lys244Arg Polymorphism rs698673 - TRIM45 Q9H8W5 VAR_019931 p.Cys375Tyr Polymorphism rs749902 - TRIM45 Q9H8W5 VAR_019932 p.Arg413Gln Polymorphism rs3738413 - TRIM45 Q9H8W5 VAR_019933 p.Met496Thr Polymorphism rs1289658 - TRIM45 Q9H8W5 VAR_044128 p.Arg353Gln Polymorphism rs34863850 - TRIM47 Q96LD4 VAR_057223 p.Glu500Ala Polymorphism rs1047043 - TRIM49B A6NDI0 VAR_042601 p.Leu398Met Polymorphism rs2696914 - TRIM49 P0CI25 VAR_061824 p.Gly373Arg Polymorphism rs12417980 - TRIM4 Q9C037 VAR_046715 p.Pro367Ser Polymorphism rs35432946 - TRIM4 Q9C037 VAR_046716 p.Ser474Cys Polymorphism rs33998596 - TRIM50 Q86XT4 VAR_020491 p.Leu8Pro Polymorphism rs6980124 - TRIM55 Q9BYV6 VAR_052144 p.Lys343Arg Polymorphism rs7843605 - TRIM58 Q8NG06 VAR_030036 p.Trp3Ser Polymorphism rs11204523 - TRIM58 Q8NG06 VAR_030037 p.Val322Ile Polymorphism rs1339847 - TRIM58 Q8NG06 VAR_030038 p.Thr374Met Polymorphism rs3811444 - TRIM5 Q9C035 VAR_017397 p.His43Tyr Polymorphism rs3740996 - TRIM5 Q9C035 VAR_017398 p.Arg136Gln Polymorphism rs10838525 - TRIM5 Q9C035 VAR_030154 p.Val112Phe Polymorphism rs11601507 - TRIM5 Q9C035 VAR_030155 p.Gly249Asp Polymorphism rs11038628 - TRIM5 Q9C035 VAR_030156 p.His419Tyr Polymorphism rs28381981 - TRIM5 Q9C035 VAR_030157 p.Pro479Leu Polymorphism rs7104422 - TRIM5 Q9C035 VAR_060707 p.Gly31Ser Polymorphism - - TRIM5 Q9C035 VAR_060708 p.Cys58Tyr Polymorphism - - TRIM5 Q9C035 VAR_060709 p.Gly110Glu Polymorphism - - TRIM5 Q9C035 VAR_060710 p.Cys467Ser Polymorphism - - TRIM63 Q969Q1 VAR_020116 p.Lys237Glu Polymorphism rs2275950 - TRIM65 Q6PJ69 VAR_057224 p.Gly364Arg Polymorphism rs34593741 - TRIM65 Q6PJ69 VAR_057225 p.Gly366Ser Polymorphism rs9892938 - TRIM65 Q6PJ69 VAR_060245 p.Val222Gly Polymorphism rs7222757 - TRIM65 Q6PJ69 VAR_060246 p.Leu509Pro Polymorphism rs3760128 - TRIM68 Q6AZZ1 VAR_027415 p.Cys442Tyr Polymorphism rs2231975 - TRIM68 Q6AZZ1 VAR_063007 p.Arg457His Polymorphism rs2231976 - TRIM68 Q6AZZ1 VAR_063008 p.Tyr466Ser Polymorphism rs7109316 - TRIM69 Q86WT6 VAR_030704 p.Val31Ala Polymorphism rs3759880 - TRIM69 Q86WT6 VAR_057226 p.Asp12Asn Polymorphism rs2444007 - TRIM69 Q86WT6 VAR_057227 p.Asp15Asn Polymorphism rs2470911 - TRIM69 Q86WT6 VAR_057228 p.Lys104Arg Polymorphism rs17588988 - TRIM69 Q86WT6 VAR_057229 p.Thr161Met Polymorphism rs3100139 - TRIM69 Q86WT6 VAR_057230 p.Ala190Val Polymorphism rs3759880 - TRIM6 Q9C030 VAR_061823 p.Glu154Lys Polymorphism rs57856328 - TRIM74 Q86UV6 VAR_039576 p.Trp13Arg Polymorphism rs121966 - TRIM7 Q9C029 VAR_017399 p.Ala18Ser Polymorphism rs3857300 - TRIM7 Q9C029 VAR_017400 p.Pro73Ser Polymorphism rs2770946 - TRIM7 Q9C029 VAR_017401 p.Gln95Glu Polymorphism rs2770945 - TRIM7 Q9C029 VAR_052125 p.Val258Ala Polymorphism rs416574 - TRIM7 Q9C029 VAR_052126 p.Gly363Ser Polymorphism rs254460 - TRIM9 Q9C026 VAR_016202 p.Leu653Phe Polymorphism rs2275462 - TRIML1 Q8N9V2 VAR_035963 p.Asp21His Unclassified - A breast cancer sample TRIML1 Q8N9V2 VAR_052145 p.Glu132Lys Polymorphism rs13131525 - TRIOBP Q9H2D6 VAR_025719 p.Gly1019Arg Disease - Deafness autosomal recessive type 28 (DFNB28) [MIM:609823] TRIOBP Q9H2D6 VAR_051412 p.Asn863Lys Polymorphism rs9610841 - TRIOBP Q9H2D6 VAR_051413 p.Glu1372Asp Polymorphism rs8140207 - TRIOBP Q9H2D6 VAR_051414 p.Trp1377Arg Polymorphism rs8140958 - TRIOBP Q9H2D6 VAR_059725 p.Ser217Asn Polymorphism rs12628603 - TRIOBP Q9H2D6 VAR_059726 p.Ser493Asn Polymorphism rs4821700 - TRIOBP Q9H2D6 VAR_059727 p.Phe1187Leu Polymorphism rs5756795 - TRIOBP Q9H2D6 VAR_059728 p.His1300Arg Polymorphism rs739138 - TRIOBP Q9H2D6 VAR_061708 p.Thr817Ser Polymorphism rs41302575 - TRIO O75962 VAR_041899 p.Ser291Thr Polymorphism rs55772118 - TRIO O75962 VAR_041900 p.Thr1644Met Polymorphism rs55687522 - TRIO O75962 VAR_041901 p.His1690Arg Polymorphism rs56292586 - TRIO O75962 VAR_041902 p.Val1978Met Unclassified - A metastatic melanoma sample TRIO O75962 VAR_041903 p.Thr2242Met Polymorphism rs55916212 - TRIO O75962 VAR_059802 p.Asp348Glu Polymorphism rs16903367 - TRIO O75962 VAR_059803 p.Ala1613Thr Polymorphism rs16903474 - TRIP11 Q15643 VAR_054151 p.Thr1846Ile Polymorphism - - TRIP11 Q15643 VAR_055861 p.Met39Leu Polymorphism rs17127898 - TRIP11 Q15643 VAR_055862 p.Glu506Ala Polymorphism rs2273186 - TRIP11 Q15643 VAR_055863 p.Val795Leu Polymorphism rs34699762 - TRIP11 Q15643 VAR_055864 p.Asp884Gly Polymorphism rs34967261 - TRIP11 Q15643 VAR_055865 p.Ile1040Val Polymorphism rs34805848 - TRIP11 Q15643 VAR_055866 p.Met1503Val Polymorphism rs34839498 - TRIP11 Q15643 VAR_055867 p.Arg1576His Polymorphism rs35007347 - TRIP11 Q15643 VAR_055868 p.Glu1749Ala Polymorphism rs2273183 - TRIP11 Q15643 VAR_055869 p.Arg1752Lys Polymorphism rs11851376 - TRIP11 Q15643 VAR_060344 p.Glu1107Asp Polymorphism rs4619320 - TRIP11 Q15643 VAR_060345 p.Asp1413Ala Polymorphism rs12884523 - TRIP11 Q15643 VAR_060346 p.Gly1827Ser Polymorphism rs1051340 - TRIP6 Q15654 VAR_013309 p.Leu296Phe Polymorphism rs17855370 - TRIP6 Q15654 VAR_050171 p.Val230Ile Polymorphism rs2075756 - TRIP6 Q15654 VAR_062262 p.Arg111Gln Polymorphism rs2437100 - TRIT1 Q9H3H1 VAR_020486 p.Phe202Leu Polymorphism rs3738671 - TRMT10A Q8TBZ6 VAR_037222 p.Pro82Gln Unclassified - A breast cancer sample TRMT10A Q8TBZ6 VAR_037223 p.Arg133Gln Polymorphism rs10007569 - TRMT10B Q6PF06 VAR_037224 p.Val234Gly Polymorphism rs36023446 - TRMT10B Q6PF06 VAR_037225 p.Val242Ala Polymorphism rs12337034 - TRMT10C Q7L0Y3 VAR_057355 p.Pro56Arg Polymorphism rs3762735 - TRMT10C Q7L0Y3 VAR_057356 p.Lys164Asn Polymorphism rs16844031 - TRMT11 Q7Z4G4 VAR_025786 p.Leu230Gln Polymorphism rs17854915 - TRMT12 Q53H54 VAR_031291 p.Trp28Arg Polymorphism rs3812475 - TRMT13 Q9NUP7 VAR_057806 p.Ala48Val Polymorphism rs687513 - TRMT2A Q8IZ69 VAR_033721 p.Ser602Arg Polymorphism rs447017 - TRMT2A Q8IZ69 VAR_035482 p.Pro604Ser Unclassified - A breast cancer sample TRMT2B Q96GJ1 VAR_037355 p.Ser12Arg Polymorphism rs7064613 - TRMT44 Q8IYL2 VAR_027515 p.Arg352Gly Polymorphism rs1880024 - TRMT5 Q32P41 VAR_028898 p.Ser217Pro Polymorphism rs7142228 - TRMT5 Q32P41 VAR_028899 p.Leu255Pro Polymorphism rs2882686 - TRMT5 Q32P41 VAR_028900 p.Glu294Ala Polymorphism rs2296928 - TRMT61A Q96FX7 VAR_026053 p.Val66Ala Polymorphism - - TRMT6 Q9UJA5 VAR_053789 p.Glu293Lys Polymorphism rs6139876 - TRMT6 Q9UJA5 VAR_053790 p.Glu299Gly Polymorphism rs451571 - TRMT6 Q9UJA5 VAR_053791 p.Pro333Leu Polymorphism rs35203742 - TRMU O75648 VAR_027268 p.Ala10Ser Polymorphism rs11090865 - TRMU O75648 VAR_046380 p.Arg25Ser Polymorphism rs2272938 - TRMU O75648 VAR_046381 p.Glu148Lys Polymorphism rs34012206 - TRMU O75648 VAR_046382 p.Arg398Cys Polymorphism rs34152016 - TRMU O75648 VAR_063428 p.Gly14Ser Polymorphism - - TRMU O75648 VAR_063429 p.Tyr77His Disease - Transient infantile liver failure (LFIT) [MIM:613070] TRMU O75648 VAR_063430 p.Gly272Asp Disease - Transient infantile liver failure (LFIT) [MIM:613070] TRMU O75648 VAR_063431 p.Val279Met Polymorphism - - TRNP1 Q6NT89 VAR_043545 p.Trp27Arg Polymorphism rs6689941 - TRNT1 Q96Q11 VAR_048698 p.Pro23Leu Polymorphism rs334773 - TRO Q12816 VAR_053510 p.Ser738Gly Polymorphism rs17297490 - TRO Q12816 VAR_062122 p.Arg65Trp Polymorphism rs60674633 - TRPA1 O75762 VAR_020660 p.Arg3Cys Polymorphism rs13268757 - TRPA1 O75762 VAR_020661 p.Glu179Lys Polymorphism rs920829 - TRPA1 O75762 VAR_020662 p.Lys186Asn Polymorphism rs7819749 - TRPA1 O75762 VAR_020663 p.His1018Arg Polymorphism rs959976 - TRPA1 O75762 VAR_047471 p.Arg58Thr Polymorphism rs16937976 - TRPC4 Q9UBN4 VAR_036452 p.Glu138Lys Unclassified - A breast cancer sample TRPC5 Q9UL62 VAR_052369 p.Arg702His Polymorphism rs36047478 - TRPC6 Q9Y210 VAR_026730 p.Pro112Gln Disease - Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_026731 p.Asn143Ser Disease - Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_026732 p.Ser270Thr Disease - Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_026733 p.Arg895Cys Disease - Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_026734 p.Glu897Lys Disease - Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] TRPC6 Q9Y210 VAR_038419 p.Asn157Thr Polymorphism rs35857503 - TRPC6 Q9Y210 VAR_061861 p.Ala404Val Polymorphism rs36111323 - TRPM1 Q7Z4N2 VAR_052370 p.Ser32Asn Polymorphism rs2241493 - TRPM1 Q7Z4N2 VAR_052371 p.Val605Met Polymorphism rs17815774 - TRPM1 Q7Z4N2 VAR_052372 p.Asn1229Thr Polymorphism rs17227996 - TRPM1 Q7Z4N2 VAR_052373 p.Arg1305His Polymorphism rs13380059 - TRPM1 Q7Z4N2 VAR_052374 p.Val1395Ile Polymorphism rs3784588 - TRPM1 Q7Z4N2 VAR_052375 p.Arg1422Gly Polymorphism rs3784587 - TRPM1 Q7Z4N2 VAR_052376 p.His1498Gln Polymorphism rs12898290 - TRPM1 Q7Z4N2 VAR_063173 p.Arg6Trp Polymorphism - - TRPM1 Q7Z4N2 VAR_063174 p.Tyr56Cys Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063175 p.Tyr72Cys Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063176 p.Arg74Cys Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063177 p.Leu99Pro Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063178 p.Leu364Arg Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063179 p.Pro399Thr Polymorphism - - TRPM1 Q7Z4N2 VAR_063180 p.Arg473Pro Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063181 p.Gly534Arg Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063182 p.Met541Lys Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063183 p.Pro611His Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063184 p.Arg721Gln Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063185 p.Glu883Gly Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063186 p.Met962Thr Unclassified - - TRPM1 Q7Z4N2 VAR_063187 p.Ile1002Phe Disease - Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] TRPM1 Q7Z4N2 VAR_063188 p.Gln1161His Polymorphism - - TRPM1 Q7Z4N2 VAR_063189 p.Pro1379Thr Polymorphism - - TRPM1 Q7Z4N2 VAR_063190 p.Arg1422Trp Polymorphism - - TRPM1 Q7Z4N2 VAR_063191 p.Arg1438Gly Unclassified - - TRPM2 O94759 VAR_020032 p.Asp543Glu Polymorphism rs1556314 - TRPM2 O94759 VAR_025216 p.Asn52Lys Polymorphism rs45625933 - TRPM2 O94759 VAR_025217 p.Val166Ile Polymorphism rs45544142 - TRPM2 O94759 VAR_025218 p.Val385Met Polymorphism rs45485992 - TRPM2 O94759 VAR_025219 p.Asp780Glu Polymorphism rs9974927 - TRPM2 O94759 VAR_025220 p.Gln1189Arg Polymorphism rs9978351 - TRPM2 O94759 VAR_025221 p.Arg1199Trp Polymorphism rs45611537 - TRPM2 O94759 VAR_025222 p.Ser1201Gly Polymorphism rs45519835 - TRPM2 O94759 VAR_025223 p.Asn1249Ser Polymorphism rs45513700 - TRPM2 O94759 VAR_025224 p.Thr1347Met Polymorphism rs45589233 - TRPM2 O94759 VAR_025225 p.Glu1359Lys Polymorphism rs45570639 - TRPM2 O94759 VAR_025226 p.Ile1368Met Polymorphism rs45613636 - TRPM2 O94759 VAR_025227 p.Ala1438Ser Polymorphism rs45578242 - TRPM3 Q9HCF6 VAR_021257 p.Arg1695Gln Polymorphism rs6560142 - TRPM3 Q9HCF6 VAR_057305 p.Thr1653Ile Polymorphism rs13440436 - TRPM3 Q9HCF6 VAR_057306 p.Asn1732Thr Polymorphism rs17535963 - TRPM3 Q9HCF6 VAR_061862 p.Arg1717Lys Polymorphism rs41287373 - TRPM4 Q8TD43 VAR_064042 p.Glu7Lys Disease - Progressive familial heart block type 1B (PFHB1B) [MIM:604559] TRPM5 Q9NZQ8 VAR_042578 p.Val254Ala Polymorphism rs3986599 - TRPM5 Q9NZQ8 VAR_052377 p.Asn235Ser Polymorphism rs886277 - TRPM5 Q9NZQ8 VAR_052378 p.Val335Leu Polymorphism rs34350821 - TRPM5 Q9NZQ8 VAR_052379 p.Ala456Thr Polymorphism rs34551253 - TRPM5 Q9NZQ8 VAR_059836 p.Arg578Gln Polymorphism rs4929982 - TRPM6 Q9BX84 VAR_019963 p.Ser141Leu Disease - Hypomagnesemia type 1 (HOMG1) [MIM:602014] TRPM6 Q9BX84 VAR_019964 p.Asn1071Asp Polymorphism rs2274922 - TRPM6 Q9BX84 VAR_019965 p.Val1393Ile Polymorphism rs3750425 - TRPM6 Q9BX84 VAR_019966 p.Lys1584Glu Polymorphism rs2274924 - TRPM6 Q9BX84 VAR_042387 p.Gly75Val Unclassified - A lung adenocarcinoma sample TRPM6 Q9BX84 VAR_042388 p.Met338Ile Polymorphism rs56155062 - TRPM6 Q9BX84 VAR_042389 p.Trp1007Cys Unclassified - A lung large cell carcinoma sample TRPM6 Q9BX84 VAR_042390 p.His1243Arg Polymorphism rs55694430 - TRPM6 Q9BX84 VAR_042391 p.Gln1274Arg Polymorphism rs34608911 - TRPM6 Q9BX84 VAR_042392 p.Gln1663Arg Polymorphism rs55679040 - TRPM6 Q9BX84 VAR_042393 p.Leu1673Ser Polymorphism rs56254742 - TRPM6 Q9BX84 VAR_042394 p.Thr1724Ile Polymorphism rs56290308 - TRPM6 Q9BX84 VAR_052380 p.Phe948Leu Polymorphism rs13290391 - TRPM7 Q96QT4 VAR_019967 p.Thr1482Ile Polymorphism rs8042919 - TRPM7 Q96QT4 VAR_042395 p.Gly68Val Polymorphism rs56064201 - TRPM7 Q96QT4 VAR_042396 p.Ser406Cys Unclassified - An ovarian serous carcinoma sample TRPM7 Q96QT4 VAR_042397 p.Ile459Thr Polymorphism rs55924090 - TRPM7 Q96QT4 VAR_042398 p.Lys574Asn Polymorphism rs56040619 - TRPM7 Q96QT4 VAR_042399 p.Thr720Ser Unclassified - A breast infiltrating ductal carcinoma sample TRPM7 Q96QT4 VAR_042400 p.Met830Val Unclassified - A gastric adenocarcinoma sample TRPM7 Q96QT4 VAR_042401 p.Phe949Tyr Polymorphism rs55681028 - TRPM7 Q96QT4 VAR_042402 p.Gln1064Arg Polymorphism rs56298128 - TRPM7 Q96QT4 VAR_042403 p.Ile1211Thr Polymorphism rs56090496 - TRPM7 Q96QT4 VAR_042404 p.Ala1254Val Polymorphism rs56288221 - TRPM7 Q96QT4 VAR_042405 p.Asp1306Glu Polymorphism rs55970334 - TRPM7 Q96QT4 VAR_042406 p.Arg1444Lys Polymorphism rs55840070 - TRPM7 Q96QT4 VAR_052381 p.Ala1033Gly Polymorphism rs34530969 - TRPM7 Q96QT4 VAR_052382 p.Ile1145Val Polymorphism rs34711809 - TRPM8 Q7Z2W7 VAR_052383 p.Arg247Thr Polymorphism rs13004520 - TRPM8 Q7Z2W7 VAR_052384 p.Tyr251Cys Polymorphism rs17868387 - TRPM8 Q7Z2W7 VAR_052385 p.Met462Thr Polymorphism rs28902173 - TRPM8 Q7Z2W7 VAR_052386 p.Thr732Ile Polymorphism rs17862932 - TRPM8 Q7Z2W7 VAR_052387 p.Asn821Ser Polymorphism rs28902201 - TRPM8 Q7Z2W7 VAR_059837 p.Ser419Asn Polymorphism rs7593557 - TRPS1 Q9UHF7 VAR_012807 p.Val894Asp Disease - Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_012808 p.Thr901Pro Disease - Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_012809 p.Arg908Pro Disease - Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_012810 p.Arg908Gln Disease - Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_012811 p.Ala919Thr Disease - Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] TRPS1 Q9UHF7 VAR_038197 p.Ser654Leu Polymorphism rs7002384 - TRPS1 Q9UHF7 VAR_038198 p.Arg952Cys Disease - Tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350] TRPS1 Q9UHF7 VAR_038199 p.Arg952His Disease - Tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350] TRPT1 Q86TN4 VAR_030134 p.Phe3Leu Polymorphism rs12788168 - TRPT1 Q86TN4 VAR_030135 p.His172Arg Polymorphism rs1059440 - TRPT1 Q86TN4 VAR_030136 p.Arg221Cys Polymorphism rs11549690 - TRPV1 Q8NER1 VAR_022246 p.Ile585Val Polymorphism rs8065080 - TRPV1 Q8NER1 VAR_057307 p.Pro91Ser Polymorphism rs222749 - TRPV1 Q8NER1 VAR_057308 p.Thr469Ile Polymorphism rs224534 - TRPV1 Q8NER1 VAR_057309 p.Thr505Ala Polymorphism rs17633288 - TRPV2 Q9Y5S1 VAR_024678 p.Gly17Ala Polymorphism rs3813768 - TRPV2 Q9Y5S1 VAR_059838 p.Asn764Ser Polymorphism rs8071215 - TRPV3 Q8NET8 VAR_052388 p.Ile25Val Polymorphism rs322965 - TRPV3 Q8NET8 VAR_052389 p.Arg117Gly Polymorphism rs322937 - TRPV3 Q8NET8 VAR_052390 p.Thr774Ile Polymorphism rs7212634 - TRPV4 Q9HBA0 VAR_052391 p.Pro19Ser Polymorphism rs3742030 - TRPV4 Q9HBA0 VAR_054805 p.Arg616Gln Disease - Brachyolmia type 3 (BRAC3) [MIM:113500] TRPV4 Q9HBA0 VAR_054806 p.Val620Ile Disease - Brachyolmia type 3 (BRAC3) [MIM:113500] TRPV4 Q9HBA0 VAR_062331 p.Ile331Phe Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_062332 p.Asp333Gly Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_062333 p.Arg594His Disease - Parastremmatic dwarfism (PSTD) [MIM:168400] TRPV4 Q9HBA0 VAR_062333 p.Arg594His Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_062334 p.Ala716Ser Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_062335 p.Pro799Leu Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_063528 p.Arg269Cys Disease - Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_063529 p.Arg269His Disease - Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_063529 p.Arg269His Disease - Distal spinal muscular atrophy congenital non-progressive (DSMAC) [MIM:600175] TRPV4 Q9HBA0 VAR_063530 p.Arg316Cys Disease - Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_063530 p.Arg316Cys Disease - Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405] TRPV4 Q9HBA0 VAR_063541 p.Arg315Trp Disease - Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] TRPV4 Q9HBA0 VAR_064517 p.Thr89Ile Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064518 p.Glu183Lys Unclassified - - TRPV4 Q9HBA0 VAR_064519 p.Lys197Arg Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064520 p.Leu199Phe Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064521 p.Glu278Lys Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064522 p.Thr295Ala Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064523 p.Ile331Thr Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064524 p.Val342Phe Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064526 p.Phe592Leu Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064527 p.Leu596Pro Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064528 p.Gly600Trp Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064529 p.Tyr602Cys Unclassified - - TRPV4 Q9HBA0 VAR_064530 p.Ile604Met Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064531 p.Phe617Leu Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064532 p.Leu618Pro Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064533 p.Met625Ile Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064534 p.Leu709Met Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064535 p.Arg775Lys Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064536 p.Cys777Tyr Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064537 p.Glu797Lys Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064537 p.Glu797Lys Disease - Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4 Q9HBA0 VAR_064538 p.Pro799Ala Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064539 p.Pro799Arg Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV4 Q9HBA0 VAR_064540 p.Pro799Ser Disease - Metatropic dysplasia (MTD) [MIM:156530] TRPV5 Q9NQA5 VAR_022247 p.Ala8Val Polymorphism rs4252372 - TRPV5 Q9NQA5 VAR_022248 p.Arg154His Polymorphism rs4236480 - TRPV5 Q9NQA5 VAR_022249 p.Ala563Thr Polymorphism rs4252499 - TRPV5 Q9NQA5 VAR_022250 p.Leu712Phe Polymorphism rs4252509 - TRPV6 Q9H1D0 VAR_022251 p.Cys157Arg Polymorphism rs4987657 - TRPV6 Q9H1D0 VAR_022252 p.Met378Val Polymorphism rs4987667 - TRPV6 Q9H1D0 VAR_022253 p.Met681Thr Polymorphism rs4987682 - TRPV6 Q9H1D0 VAR_052393 p.Arg359Gln Polymorphism rs4987665 - TRRAP Q9Y4A5 VAR_028359 p.Arg878Leu Polymorphism rs17161510 - TRRAP Q9Y4A5 VAR_041658 p.Arg893Cys Unclassified - An ovarian serous carcinoma sample TRRAP Q9Y4A5 VAR_041659 p.Ser1070Gly Polymorphism rs55920979 - TRRAP Q9Y4A5 VAR_041660 p.Arg1669His Unclassified - A colorectal adenocarcinoma sample TRRAP Q9Y4A5 VAR_041661 p.Arg1724His Unclassified - A gastric adenocarcinoma sample TRRAP Q9Y4A5 VAR_041662 p.Ala1925Val Polymorphism - - TRRAP Q9Y4A5 VAR_041663 p.Pro1932Leu Unclassified - A colorectal adenocarcinoma sample TRRAP Q9Y4A5 VAR_041664 p.Arg1947Leu Unclassified - An ovarian mucinous carcinoma sample TRRAP Q9Y4A5 VAR_041665 p.Trp2139Gly Polymorphism - - TRRAP Q9Y4A5 VAR_041666 p.Arg2302Trp Unclassified - A colorectal adenocarcinoma sample TRRAP Q9Y4A5 VAR_041667 p.Ser2433Gly Polymorphism - - TRRAP Q9Y4A5 VAR_041668 p.Pro2690Leu Unclassified - A lung large cell carcinoma sample TRRAP Q9Y4A5 VAR_041669 p.Glu2750Asp Polymorphism - - TRRAP Q9Y4A5 VAR_041670 p.Lys2801Glu Polymorphism - - TRRAP Q9Y4A5 VAR_041671 p.Thr2931Met Unclassified - A colorectal adenocarcinoma sample TRUB1 Q8WWH5 VAR_027748 p.Arg167Lys Polymorphism rs7099565 - TRUB1 Q8WWH5 VAR_051607 p.Glu103Ala Polymorphism rs34393297 - TRUB2 O95900 VAR_027749 p.Val93Leu Polymorphism rs2072394 - TRUB2 O95900 VAR_051608 p.Pro79Leu Polymorphism rs2231630 - TRUB2 O95900 VAR_051609 p.Thr209Ser Polymorphism rs2231637 - TSACC Q96A04 VAR_061567 p.Ser54Leu Polymorphism rs41265043 - TSC1 Q92574 VAR_009397 p.Glu51Asp Unclassified - - TSC1 Q92574 VAR_009398 p.Arg190Ser Polymorphism - - TSC1 Q92574 VAR_009399 p.Leu191His Unclassified - - TSC1 Q92574 VAR_009401 p.Met224Arg Unclassified - - TSC1 Q92574 VAR_009402 p.Met322Thr Polymorphism rs1073123 - TSC1 Q92574 VAR_009403 p.Thr417Ile Unclassified - - TSC1 Q92574 VAR_009404 p.Glu577Asp Polymorphism - - TSC1 Q92574 VAR_009406 p.Lys587Arg Polymorphism - - TSC1 Q92574 VAR_009407 p.Gln654Glu Disease - Tuberous sclerosis type 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009408 p.Ala726Glu Disease - Tuberous sclerosis type 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009409 p.His732Tyr Unclassified - - TSC1 Q92574 VAR_009410 p.Glu809Gln Polymorphism - - TSC1 Q92574 VAR_009411 p.Ser829Arg Polymorphism - - TSC1 Q92574 VAR_009412 p.Thr899Ser Disease - Tuberous sclerosis type 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_009413 p.Gly1035Ser Polymorphism - - TSC1 Q92574 VAR_009414 p.Gly1108Ser Polymorphism - - TSC1 Q92574 VAR_054386 p.His68Arg Unclassified - A bladder tumor TSC1 Q92574 VAR_054387 p.Leu72Pro Disease - Tuberous sclerosis type 1 (TSC1) [MIM:191100] TSC1 Q92574 VAR_054388 p.Phe158Cys Unclassified - A bladder tumor TSC1 Q92574 VAR_054389 p.His206Asp Unclassified - A bladder tumor TSC1 Q92574 VAR_054390 p.Phe216Leu Unclassified - A bladder tumor TSC1 Q92574 VAR_054391 p.Arg500Gln Disease - Tuberous sclerosis type 1 (TSC1) [MIM:191100] TSC22D1 Q15714 VAR_057311 p.Pro652Ser Polymorphism rs9525983 - TSC22D2 O75157 VAR_052408 p.Ala419Thr Polymorphism rs879634 - TSC22D4 Q9Y3Q8 VAR_036284 p.Val329Met Unclassified - A breast cancer sample TSC2 P49815 VAR_005646 p.Leu292Pro Disease rs45517138 Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005647 p.Tyr407Asp Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005648 p.Met449Ile Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005649 p.Ala607Thr Polymorphism - - TSC2 P49815 VAR_005650 p.Arg611Gln Disease - Lymphangioleiomyomatosis (LAM) [MIM:606690] TSC2 P49815 VAR_005650 p.Arg611Gln Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005651 p.Arg611Trp Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005652 p.Leu826Met Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005653 p.Arg905Gln Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005654 p.Arg905Trp Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005655 p.Asp1084Glu Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005656 p.Arg1200Trp Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005657 p.Pro1227Leu Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005658 p.Arg1240Trp Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005659 p.Asp1295Val Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005661 p.Tyr1549Cys Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005663 p.Asn1643Ile Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005664 p.Tyr1650Cys Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005665 p.Asp1690Tyr Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005666 p.Ala1712Glu Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_005667 p.Leu1750Phe Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008019 p.Pro94Thr Polymorphism rs1051616 - TSC2 P49815 VAR_008020 p.Cys227Tyr Disease rs45517122 Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008021 p.Asn331Lys Disease rs45517153 Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008022 p.Asn486Ile Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008023 p.Ile490Val Polymorphism - - TSC2 P49815 VAR_008024 p.Ala536Val Polymorphism - - TSC2 P49815 VAR_008025 p.Phe615Ser Polymorphism - - TSC2 P49815 VAR_008026 p.Pro816Leu Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008027 p.Val1144Met Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008028 p.Pro1315Ser Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008029 p.Arg1329His Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008030 p.Pro1709Leu Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008031 p.Arg1743Gln Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008032 p.His1773Pro Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_008033 p.Glu1783Gln Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009415 p.His137Arg Unclassified rs45517107 - TSC2 P49815 VAR_009416 p.Leu160Val Polymorphism rs45517109 - TSC2 P49815 VAR_009417 p.Lys258Asn Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009418 p.Arg261Pro Disease rs45502703 Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009419 p.Arg261Trp Polymorphism rs45517130 - TSC2 P49815 VAR_009420 p.Met286Thr Polymorphism rs45517136 - TSC2 P49815 VAR_009421 p.Met286Val Polymorphism rs1800748 - TSC2 P49815 VAR_009422 p.Gly294Glu Disease rs45487497 Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009424 p.Leu309Gln Polymorphism - - TSC2 P49815 VAR_009425 p.Leu320Phe Polymorphism rs1131825 - TSC2 P49815 VAR_009426 p.Leu361Pro Disease rs45517147 Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009428 p.Arg367Gln Polymorphism rs1800725 - TSC2 P49815 VAR_009429 p.Pro378Leu Polymorphism rs45517154 - TSC2 P49815 VAR_009430 p.Gly440Ser Polymorphism - - TSC2 P49815 VAR_009431 p.Ile463Val Polymorphism - - TSC2 P49815 VAR_009432 p.Asn525Ser Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009433 p.Ala583Thr Polymorphism rs1800729 - TSC2 P49815 VAR_009434 p.His593Arg Polymorphism - - TSC2 P49815 VAR_009435 p.Lys599Met Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009436 p.Ala614Asp Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009437 p.Asp647Asn Unclassified - - TSC2 P49815 VAR_009439 p.Cys696Tyr Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009440 p.Leu717Arg Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009441 p.Val769Glu Unclassified - - TSC2 P49815 VAR_009442 p.Met895Val Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009443 p.Val963Met Unclassified - - TSC2 P49815 VAR_009444 p.Ser1282Gly Polymorphism - - TSC2 P49815 VAR_009445 p.Pro1497Arg Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009446 p.Ser1498Asn Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009447 p.Leu1594Met Unclassified - - TSC2 P49815 VAR_009448 p.His1620Tyr Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009449 p.Asn1643Lys Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009450 p.Asn1651Ser Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009451 p.Pro1675Leu Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009452 p.Asn1681Lys Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009453 p.Ser1704Thr Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009454 p.Arg1743Pro Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009455 p.Leu1744Pro Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_009457 p.Gly1787Ser Polymorphism - - TSC2 P49815 VAR_009458 p.Gly1791Ser Polymorphism - - TSC2 P49815 VAR_018600 p.Ala862Val Polymorphism - - TSC2 P49815 VAR_018601 p.Ala1429Ser Polymorphism - - TSC2 P49815 VAR_018602 p.Pro1450Arg Polymorphism - - TSC2 P49815 VAR_018603 p.Ser1653Phe Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_022919 p.Leu1027Pro Disease - Tuberous sclerosis type 2 (TSC2) [MIM:613254] TSC2 P49815 VAR_022920 p.Ser1341Arg Polymorphism - - TSC2 P49815 VAR_022921 p.Asp1636Asn Polymorphism - - TSC2 P49815 VAR_022922 p.Val1673Leu Polymorphism - - TSC2 P49815 VAR_057014 p.Ala1141Val Polymorphism rs34870424 - TSC2 P49815 VAR_057015 p.Ser1774Thr Polymorphism rs9209 - TSC2 P49815 VAR_060584 p.Leu619Phe Polymorphism rs1131826 - TSC2 P49815 VAR_060585 p.Ser802Arg Polymorphism rs1051621 - TSEN15 Q8WW01 VAR_019457 p.Gly19Asp Polymorphism rs2274432 - TSEN15 Q8WW01 VAR_019458 p.Gln59His Polymorphism rs1046934 - TSEN2 Q8NCE0 VAR_048931 p.Arg41His Polymorphism rs12495784 - TSEN2 Q8NCE0 VAR_048932 p.Arg126His Polymorphism rs33955793 - TSEN2 Q8NCE0 VAR_054810 p.Tyr309Cys Disease - Pontocerebellar hypoplasia type 2B (PCH2B) [MIM:612389] TSEN34 Q9BSV6 VAR_054811 p.Arg58Trp Disease - Pontocerebellar hypoplasia type 2C (PCH2C) [MIM:612390] TSEN34 Q9BSV6 VAR_061149 p.Leu112Val Polymorphism rs17849378 - TSEN54 Q7Z6J9 VAR_019459 p.Glu4Asp Polymorphism rs7216673 - TSEN54 Q7Z6J9 VAR_019461 p.His38Gln Polymorphism rs8079373 - TSEN54 Q7Z6J9 VAR_019462 p.Lys347Asn Polymorphism rs9911502 - TSEN54 Q7Z6J9 VAR_019463 p.Ala437Val Polymorphism rs8064529 - TSEN54 Q7Z6J9 VAR_054812 p.Ser93Pro Disease - Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753] TSEN54 Q7Z6J9 VAR_054813 p.Ala307Ser Disease - Pontocerebellar hypoplasia type 2A (PCH2A) [MIM:277470] TSEN54 Q7Z6J9 VAR_054813 p.Ala307Ser Disease - Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753] TSEN54 Q7Z6J9 VAR_057721 p.Ile137Leu Polymorphism rs11559205 - TSEN54 Q7Z6J9 VAR_057722 p.Gly525Arg Polymorphism rs11870627 - TSG101 Q99816 VAR_034572 p.Met167Ile Polymorphism rs34385327 - TSGA10IP Q3SY00 VAR_042855 p.Ala210Val Polymorphism rs565921 - TSGA10IP Q3SY00 VAR_042856 p.Arg237Ser Polymorphism rs7927388 - TSGA10IP Q3SY00 VAR_042857 p.Ser292Asn Polymorphism rs7927826 - TSGA10IP Q3SY00 VAR_042858 p.Arg305Pro Polymorphism rs7927841 - TSGA10IP Q3SY00 VAR_042859 p.Val521Met Polymorphism rs491973 - TSHB P01222 VAR_054769 p.Thr14Ala Polymorphism rs10776792 - TSHR P16473 VAR_003564 p.Asp36His Unclassified - - TSHR P16473 VAR_003565 p.Pro52Thr Polymorphism rs2234919 - TSHR P16473 VAR_003566 p.Lys183Arg Disease - Familial gestational hyperthyroidism (HTFG) [MIM:603373] TSHR P16473 VAR_003567 p.Phe197Ile Unclassified - Papillary cancer TSHR P16473 VAR_003568 p.Asp219Glu Unclassified - Papillary cancer TSHR P16473 VAR_003569 p.Ser281Ile Unclassified - - TSHR P16473 VAR_003570 p.Ser281Asn Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_003571 p.Ser505Asn Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_003572 p.Arg528His Polymorphism - - TSHR P16473 VAR_003573 p.Asp619Gly Unclassified - - TSHR P16473 VAR_003574 p.Ala623Ile Unclassified - - TSHR P16473 VAR_003575 p.Leu629Phe Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_003576 p.Asn715Asp Unclassified - Papillary cancer TSHR P16473 VAR_003577 p.Lys723Met Unclassified - Papillary cancer TSHR P16473 VAR_003578 p.Asp727Glu Polymorphism rs1991517 - TSHR P16473 VAR_011519 p.Cys41Ser Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011520 p.Arg109Gln Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011521 p.Pro162Ala Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011522 p.Ile167Asn Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011523 p.Ser281Thr Unclassified - - TSHR P16473 VAR_011524 p.Arg310Cys Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011525 p.Cys390Trp Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011526 p.Asp410Asn Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011527 p.Gly431Ser Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011528 p.Arg450His Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011529 p.Met453Thr Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011530 p.Met463Val Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011531 p.Ile486Phe Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011532 p.Ile486Met Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011533 p.Gly498Ser Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011534 p.Ser505Arg Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011535 p.Val509Ala Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011536 p.Leu512Arg Unclassified - - TSHR P16473 VAR_011537 p.Phe525Leu Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011538 p.Ala553Thr Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_011539 p.Ile568Thr Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011540 p.Val597Leu Unclassified - - TSHR P16473 VAR_011541 p.Ile606Met Polymorphism - - TSHR P16473 VAR_011542 p.Ala623Val Unclassified - - TSHR P16473 VAR_011543 p.Ile630Leu Unclassified - - TSHR P16473 VAR_011544 p.Phe631Cys Unclassified - - TSHR P16473 VAR_011545 p.Phe631Leu Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011546 p.Thr632Ala Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011547 p.Thr632Ile Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011548 p.Asp633Ala Unclassified - - TSHR P16473 VAR_011549 p.Asp633Glu Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011550 p.Asp633His Polymorphism rs28937584 - TSHR P16473 VAR_011551 p.Asp633Tyr Unclassified - - TSHR P16473 VAR_011552 p.Pro639Ser Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011553 p.Ala647Val Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011554 p.Asn650Tyr Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011556 p.Asn670Ser Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011557 p.Cys672Tyr Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_011558 p.Leu677Val Unclassified - Thyroid carcinoma TSHR P16473 VAR_011559 p.Ala703Gly Polymorphism - - TSHR P16473 VAR_011560 p.Gln720Glu Polymorphism - - TSHR P16473 VAR_017295 p.Leu467Pro Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_017296 p.Thr477Ile Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_017297 p.Cys600Arg Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_021495 p.Leu252Pro Disease - Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] TSHR P16473 VAR_021496 p.Ser425Ile Unclassified - - TSHR P16473 VAR_021497 p.Leu512Gln Unclassified - - TSHR P16473 VAR_021498 p.Ala593Asn Unclassified - - TSHR P16473 VAR_021499 p.Val597Phe Disease - Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] TSHR P16473 VAR_021500 p.Pro639Ala Unclassified - - TSHR P16473 VAR_021501 p.Val656Phe Unclassified - - TSHR P16473 VAR_055925 p.Glu34Lys Polymorphism rs45499704 - TSHZ1 Q6ZSZ6 VAR_061926 p.Leu666Pro Polymorphism rs55679337 - TSHZ2 Q9NRE2 VAR_026679 p.Arg113Ser Polymorphism rs739869 - TSHZ2 Q9NRE2 VAR_026680 p.Ala681Thr Polymorphism rs6097319 - TSHZ3 Q63HK5 VAR_052708 p.Pro687Leu Polymorphism rs4805664 - TSHZ3 Q63HK5 VAR_063635 p.Glu469Gly Polymorphism - - TSKS Q9UJT2 VAR_036272 p.Gly19Arg Unclassified - A colorectal cancer sample TSKS Q9UJT2 VAR_051459 p.Glu167Lys Polymorphism rs34701020 - TSKS Q9UJT2 VAR_051460 p.Asp382Gly Polymorphism rs2304202 - TSKU Q8WUA8 VAR_026726 p.Asp344Glu Polymorphism rs1149621 - TSKU Q8WUA8 VAR_028725 p.Arg208Cys Polymorphism rs3740772 - TSKU Q8WUA8 VAR_028726 p.Ser248Asn Polymorphism rs11236938 - TSKU Q8WUA8 VAR_028727 p.Val308Ile Polymorphism rs3740771 - TSNARE1 Q96NA8 VAR_051461 p.Arg55Pro Polymorphism rs33970858 - TSNARE1 Q96NA8 VAR_051462 p.Thr118Ala Polymorphism rs10100935 - TSNARE1 Q96NA8 VAR_051463 p.Val268Ile Polymorphism rs10435683 - TSNARE1 Q96NA8 VAR_055146 p.Phe18Leu Polymorphism rs7814359 - TSPAN10 Q9H1Z9 VAR_057277 p.Arg187His Polymorphism rs34896443 - TSPAN10 Q9H1Z9 VAR_061849 p.Tyr218His Polymorphism rs34379910 - TSPAN11 A1L157 VAR_037337 p.Val190Ala Polymorphism rs2075333 - TSPAN12 O95859 VAR_062253 p.Leu57Ser Polymorphism rs17852934 - TSPAN12 O95859 VAR_063576 p.Leu101His Disease - Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310] TSPAN12 O95859 VAR_063577 p.Gly188Arg Disease - Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310] TSPAN12 O95859 VAR_063578 p.Met210Arg Disease - Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310] TSPAN12 O95859 VAR_063579 p.Ala237Pro Disease - Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310] TSPAN16 Q9UKR8 VAR_052329 p.Tyr53Asp Polymorphism rs34162761 - TSPAN16 Q9UKR8 VAR_052330 p.Leu55Pro Polymorphism rs17001344 - TSPAN16 Q9UKR8 VAR_052331 p.Ser233Cys Polymorphism rs318687 - TSPAN17 Q96FV3 VAR_057278 p.Ile140Thr Polymorphism rs17624798 - TSPAN18 Q96SJ8 VAR_057279 p.Val133Ile Polymorphism rs2291334 - TSPAN1 O60635 VAR_034573 p.Val87Met Polymorphism rs2234268 - TSPAN1 O60635 VAR_052327 p.Ser38Phe Polymorphism rs2234267 - TSPAN2 O60636 VAR_052328 p.Arg118Leu Polymorphism rs9659602 - TSPAN4 O14817 VAR_036616 p.Ile67Met Unclassified - A breast cancer sample TSPAN6 O43657 VAR_014494 p.Ala108Thr Polymorphism rs1802288 - TSPAN7 P41732 VAR_009259 p.Pro172His Disease - Mental retardation X-linked type 58 (MRX58) [MIM:300210] TSPAN7 P41732 VAR_037905 p.Glu53Lys Polymorphism rs17851592 - TSPAN7 P41732 VAR_037906 p.Ala127Thr Polymorphism rs17851593 - TSPAN8 P19075 VAR_012054 p.Ser213Ala Polymorphism rs1051334 - TSPAN8 P19075 VAR_020093 p.Gly73Ala Polymorphism rs3763978 - TSPAN8 P19075 VAR_061848 p.Val35Ile Polymorphism rs17849952 - TSPEAR Q8WU66 VAR_036271 p.Ala166Thr Unclassified - A colorectal cancer sample TSPO B1AH88 VAR_059840 p.His53Arg Polymorphism rs6971 - TSPO P30536 VAR_013617 p.Thr147Ala Polymorphism rs6971 - TSPO P30536 VAR_013618 p.Arg162His Polymorphism rs6972 - TSPO P30536 VAR_018868 p.Glu169Gln Polymorphism rs9333342 - TSPY1 Q01534 VAR_016227 p.Pro195Arg Polymorphism - - TSPY1 Q01534 VAR_016228 p.Ile216Phe Polymorphism - - TSPY26P Q9H489 VAR_020256 p.Pro246His Polymorphism rs3813922 - TSPYL1 Q9H0U9 VAR_016229 p.Pro62Ser Polymorphism rs3828743 - TSPYL1 Q9H0U9 VAR_016230 p.Ala74Pro Polymorphism rs3749895 - TSPYL1 Q9H0U9 VAR_046722 p.Ala181Thr Polymorphism rs3749894 - TSPYL4 Q9UJ04 VAR_050228 p.Arg30Leu Polymorphism rs2232470 - TSPYL5 Q86VY4 VAR_035393 p.Thr120Ser Polymorphism rs2635164 - TSPYL5 Q86VY4 VAR_035394 p.Ile365Val Polymorphism rs17854366 - TSPYL6 Q8N831 VAR_035395 p.Ala60Val Polymorphism rs6743719 - TSPYL6 Q8N831 VAR_035396 p.Gly109Ser Polymorphism rs843704 - TSPYL6 Q8N831 VAR_035397 p.Pro116Leu Polymorphism rs13424808 - TSPYL6 Q8N831 VAR_035398 p.Arg246Cys Polymorphism rs17189743 - TSR1 Q2NL82 VAR_037211 p.Ser386Gly Polymorphism rs2281726 - TSR1 Q2NL82 VAR_037212 p.Asn719Ser Polymorphism rs2273983 - TSR1 Q2NL82 VAR_037213 p.Lys727Gln Polymorphism rs35019711 - TSR1 Q2NL82 VAR_037214 p.His750Gln Polymorphism rs35343613 - TSSC4 Q9Y5U2 VAR_057826 p.His17Pro Polymorphism rs2234278 - TSSC4 Q9Y5U2 VAR_057827 p.Arg230Ser Polymorphism rs2234280 - TSSC4 Q9Y5U2 VAR_057828 p.Gly262Arg Polymorphism rs2234281 - TSSC4 Q9Y5U2 VAR_060194 p.Arg124Gln Polymorphism rs1008265 - TSSC4 Q9Y5U2 VAR_063128 p.His274Pro Polymorphism rs2234283 - TSSK1B Q9BXA7 VAR_041235 p.Ala50Thr Polymorphism - - TSSK1B Q9BXA7 VAR_041236 p.His83Tyr Polymorphism rs55930004 - TSSK1B Q9BXA7 VAR_041237 p.Val233Leu Polymorphism rs55940513 - TSSK1B Q9BXA7 VAR_041238 p.Arg237Cys Polymorphism rs55738530 - TSSK1B Q9BXA7 VAR_041239 p.Gly288Trp Polymorphism rs34696815 - TSSK1B Q9BXA7 VAR_041240 p.Gly293Glu Polymorphism rs11953478 - TSSK2 Q96PF2 VAR_041241 p.Lys27Arg Polymorphism rs3747052 - TSSK2 Q96PF2 VAR_041242 p.Met61Val Polymorphism - - TSSK2 Q96PF2 VAR_041243 p.Tyr197Cys Polymorphism - - TSSK2 Q96PF2 VAR_041244 p.Thr280Met Polymorphism rs1052763 - TSSK2 Q96PF2 VAR_051677 p.Glu244Lys Polymorphism rs35048893 - TSSK2 Q96PF2 VAR_059770 p.Cys245Ser Polymorphism rs8140743 - TSSK3 Q96PN8 VAR_041245 p.Ala140Thr Polymorphism rs55786268 - TSSK3 Q96PN8 VAR_041246 p.Ser235Leu Polymorphism rs35457991 - TSSK3 Q96PN8 VAR_051678 p.Ile71Val Polymorphism rs35508255 - TSSK4 Q6SA08 VAR_041247 p.His33Tyr Polymorphism rs36036137 - TSSK4 Q6SA08 VAR_041248 p.Tyr89Cys Polymorphism rs34083933 - TSSK4 Q6SA08 VAR_041249 p.Val145Met Polymorphism rs35468205 - TSSK4 Q6SA08 VAR_041250 p.Gln196Arg Polymorphism rs1270764 - TSSK4 Q6SA08 VAR_041251 p.Thr327Met Polymorphism rs35244223 - TSTD2 Q5T7W7 VAR_050842 p.Arg83Gln Polymorphism rs2773347 - TSTD2 Q5T7W7 VAR_050843 p.Ala109Asp Polymorphism rs10817858 - TST Q16762 VAR_051799 p.Glu102Asp Polymorphism rs35156365 - TST Q16762 VAR_051800 p.Glu228Gly Polymorphism rs1049270 - TTBK1 Q5TCY1 VAR_041252 p.Pro613Leu Polymorphism rs34993661 - TTBK1 Q5TCY1 VAR_041253 p.Gly623Ala Polymorphism rs3800294 - TTBK1 Q5TCY1 VAR_041254 p.Pro649Arg Polymorphism rs35175743 - TTBK1 Q5TCY1 VAR_041255 p.Asp741Glu Polymorphism rs56377340 - TTBK1 Q5TCY1 VAR_041256 p.Glu744Asp Polymorphism rs3800295 - TTBK1 Q5TCY1 VAR_041257 p.Ser806Phe Unclassified - A lung large cell carcinoma sample TTBK1 Q5TCY1 VAR_041258 p.Pro855Ser Unclassified - A metastatic melanoma sample TTBK1 Q5TCY1 VAR_041259 p.Lys1145Arg Polymorphism rs3800297 - TTBK1 Q5TCY1 VAR_041260 p.Leu1184Ser Polymorphism rs3800298 - TTBK2 Q6IQ55 VAR_041261 p.Leu8Pro Polymorphism rs6493068 - TTBK2 Q6IQ55 VAR_041262 p.Arg120Gln Polymorphism rs35328266 - TTBK2 Q6IQ55 VAR_041263 p.Thr313Ala Polymorphism rs56017612 - TTBK2 Q6IQ55 VAR_041264 p.Val440Met Polymorphism rs56311523 - TTBK2 Q6IQ55 VAR_041265 p.Arg500Pro Polymorphism rs56039839 - TTBK2 Q6IQ55 VAR_041266 p.Asp635Gly Unclassified - A lung small cell carcinoma sample TTBK2 Q6IQ55 VAR_041267 p.Thr1062Ile Polymorphism rs55833708 - TTBK2 Q6IQ55 VAR_041268 p.Thr1084Met Polymorphism rs34348991 - TTBK2 Q6IQ55 VAR_041269 p.Val1097Ala Polymorphism rs55796513 - TTBK2 Q6IQ55 VAR_041270 p.Pro1122Arg Polymorphism rs56142516 - TTBK2 Q6IQ55 VAR_041271 p.Lys1241Thr Polymorphism rs36104367 - TTC12 Q9H892 VAR_031431 p.Met73Leu Polymorphism rs723077 - TTC12 Q9H892 VAR_031432 p.Met468Leu Polymorphism rs35852218 - TTC12 Q9H892 VAR_061903 p.Val563Ala Polymorphism rs35303225 - TTC16 Q8NEE8 VAR_025542 p.Met405Thr Polymorphism rs17852941 - TTC16 Q8NEE8 VAR_025543 p.Glu588Gly Polymorphism rs13298768 - TTC16 Q8NEE8 VAR_025544 p.Ala872Ser Polymorphism rs17852943 - TTC16 Q8NEE8 VAR_052626 p.Tyr809Cys Polymorphism rs4837178 - TTC17 Q96AE7 VAR_034135 p.Ile145Leu Polymorphism rs12099204 - TTC17 Q96AE7 VAR_052627 p.Asn270His Polymorphism rs16937479 - TTC18 Q5T0N1 VAR_032877 p.Trp849Leu Polymorphism rs12256262 - TTC18 Q5T0N1 VAR_032878 p.Asn944Asp Polymorphism rs4294502 - TTC21A Q8NDW8 VAR_032879 p.Arg91Gln Polymorphism rs1112438 - TTC21A Q8NDW8 VAR_032880 p.Val108Leu Polymorphism rs17855763 - TTC21A Q8NDW8 VAR_032881 p.Arg290Lys Polymorphism rs1274972 - TTC21A Q8NDW8 VAR_032882 p.Glu293Lys Polymorphism rs1274971 - TTC21A Q8NDW8 VAR_032883 p.Arg622Trp Polymorphism rs35581078 - TTC21A Q8NDW8 VAR_032884 p.Arg719Gln Polymorphism rs9861353 - TTC21A Q8NDW8 VAR_032885 p.Arg1055Leu Polymorphism rs35934336 - TTC21A Q8NDW8 VAR_032886 p.Ser1160Arg Polymorphism rs34201693 - TTC21A Q8NDW8 VAR_032887 p.Arg1316Lys Polymorphism rs704959 - TTC21A Q8NDW8 VAR_059861 p.Arg719His Polymorphism rs9861353 - TTC21B Q7Z4L5 VAR_032888 p.Val201Met Polymorphism rs1432273 - TTC21B Q7Z4L5 VAR_032889 p.Thr276Ala Polymorphism rs7592429 - TTC21B Q7Z4L5 VAR_032890 p.Pro463Ser Polymorphism rs16851307 - TTC21B Q7Z4L5 VAR_032891 p.Leu473Phe Polymorphism rs2163649 - TTC21B Q7Z4L5 VAR_032892 p.Lys846Arg Polymorphism rs7595010 - TTC21B Q7Z4L5 VAR_065514 p.Phe60Tyr Unclassified - - TTC21B Q7Z4L5 VAR_065515 p.Lys66Arg Polymorphism - - TTC21B Q7Z4L5 VAR_065516 p.Trp150Arg Disease - Nephronophthisis type 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065517 p.Lys157Glu Disease - Bardet-Biedl syndrome (BBS) [MIM:209900] TTC21B Q7Z4L5 VAR_065518 p.Pro209Leu Disease - Nephronophthisis type 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065519 p.Gln222Leu Polymorphism - - TTC21B Q7Z4L5 VAR_065520 p.Thr231Ser Disease - Asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819] TTC21B Q7Z4L5 VAR_065520 p.Thr231Ser Disease - Bardet-Biedl syndrome (BBS) [MIM:209900] TTC21B Q7Z4L5 VAR_065520 p.Thr231Ser Disease - Nephronophthisis type 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065521 p.Asp242Asn Polymorphism - - TTC21B Q7Z4L5 VAR_065522 p.Tyr255Cys Disease - Bardet-Biedl syndrome (BBS) [MIM:209900] TTC21B Q7Z4L5 VAR_065523 p.Met280Val Polymorphism - - TTC21B Q7Z4L5 VAR_065524 p.Ala327Ser Unclassified - - TTC21B Q7Z4L5 VAR_065525 p.Tyr347Cys Polymorphism - - TTC21B Q7Z4L5 VAR_065526 p.Arg411Gly Disease - Bardet-Biedl syndrome (BBS) [MIM:209900] TTC21B Q7Z4L5 VAR_065527 p.Gln412Arg Polymorphism - - TTC21B Q7Z4L5 VAR_065528 p.Asp424Glu Polymorphism - - TTC21B Q7Z4L5 VAR_065529 p.His566Arg Disease - Nephronophthisis type 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065530 p.Ser591Asn Disease - Joubert syndrome (JBTS) [MIM:213300] TTC21B Q7Z4L5 VAR_065531 p.Arg616Cys Polymorphism - - TTC21B Q7Z4L5 VAR_065532 p.Ile624Val Polymorphism - - TTC21B Q7Z4L5 VAR_065533 p.His645Arg Polymorphism - - TTC21B Q7Z4L5 VAR_065534 p.Ser724Thr Polymorphism - - TTC21B Q7Z4L5 VAR_065535 p.Pro753Leu Disease - Nephronophthisis type 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065536 p.Asp755Tyr Disease - Asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819] TTC21B Q7Z4L5 VAR_065537 p.Leu795Pro Disease - Asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819] TTC21B Q7Z4L5 VAR_065538 p.Met844Val Unclassified - - TTC21B Q7Z4L5 VAR_065539 p.Arg867Cys Disease - Joubert syndrome (JBTS) [MIM:213300] TTC21B Q7Z4L5 VAR_065540 p.Arg867His Unclassified - - TTC21B Q7Z4L5 VAR_065541 p.Gln869Arg Unclassified - - TTC21B Q7Z4L5 VAR_065542 p.Arg939Gln Unclassified - - TTC21B Q7Z4L5 VAR_065543 p.Arg939Trp Unclassified - - TTC21B Q7Z4L5 VAR_065544 p.Leu1002Val Unclassified - - TTC21B Q7Z4L5 VAR_065545 p.Met1011Val Polymorphism - - TTC21B Q7Z4L5 VAR_065546 p.Tyr1035Cys Polymorphism - - TTC21B Q7Z4L5 VAR_065547 p.Asp1041Asn Polymorphism - - TTC21B Q7Z4L5 VAR_065548 p.Thr1103Arg Disease - Bardet-Biedl syndrome (BBS) [MIM:209900] TTC21B Q7Z4L5 VAR_065549 p.Tyr1167Cys Disease - Nephronophthisis type 12 (NPHP12) [MIM:613820] TTC21B Q7Z4L5 VAR_065550 p.Met1186Val Disease - Joubert syndrome (JBTS) [MIM:213300] TTC21B Q7Z4L5 VAR_065551 p.Ile1208Ser Disease - Bardet-Biedl syndrome (BBS) [MIM:209900] TTC21B Q7Z4L5 VAR_065552 p.Asp1284His Polymorphism - - TTC21B Q7Z4L5 VAR_065553 p.Arg1311Gly Polymorphism - - TTC22 Q5TAA0 VAR_029585 p.Leu14Val Polymorphism rs671108 - TTC23L Q6PF05 VAR_043539 p.His22Arg Polymorphism rs6451173 - TTC23L Q6PF05 VAR_043540 p.Lys67Glu Polymorphism rs6866035 - TTC23L Q6PF05 VAR_043541 p.Thr150Met Polymorphism rs34566695 - TTC23L Q6PF05 VAR_043542 p.Asn153Asp Polymorphism rs35769440 - TTC23L Q6PF05 VAR_043543 p.Lys247Asn Polymorphism rs34702907 - TTC23L Q6PF05 VAR_043544 p.Arg325Lys Polymorphism rs35665026 - TTC24 A2A3L6 VAR_036643 p.Glu231Gly Polymorphism rs6682716 - TTC24 A2A3L6 VAR_036644 p.Pro532Ala Polymorphism rs17392348 - TTC24 A2A3L6 VAR_036645 p.Asn550Ser Polymorphism rs12090808 - TTC25 Q96NG3 VAR_031758 p.Pro4Ser Polymorphism rs34516580 - TTC25 Q96NG3 VAR_031759 p.Ala18Gly Polymorphism rs35516909 - TTC26 A0AVF1 VAR_032568 p.Asp310Asn Polymorphism rs13225917 - TTC27 Q6P3X3 VAR_033207 p.Tyr476Cys Polymorphism rs2273660 - TTC27 Q6P3X3 VAR_033208 p.Arg525His Polymorphism rs2273664 - TTC27 Q6P3X3 VAR_052628 p.Arg586His Polymorphism rs17012268 - TTC27 Q6P3X3 VAR_061905 p.Thr498Met Polymorphism rs34188947 - TTC29 Q8NA56 VAR_033179 p.Leu94Pro Polymorphism rs35123039 - TTC29 Q8NA56 VAR_033180 p.His140Tyr Polymorphism rs17610219 - TTC29 Q8NA56 VAR_033181 p.Ala276Thr Polymorphism rs10013280 - TTC30A Q86WT1 VAR_043123 p.Lys577Arg Polymorphism rs17854236 - TTC30A Q86WT1 VAR_054660 p.Val446Ile Polymorphism rs28630685 - TTC30B Q8N4P2 VAR_043124 p.Arg117His Polymorphism rs11694988 - TTC30B Q8N4P2 VAR_043125 p.Ile446Val Polymorphism rs2695315 - TTC31 Q49AM3 VAR_047357 p.Ala28Val Polymorphism rs6707475 - TTC31 Q49AM3 VAR_047358 p.Thr205Pro Polymorphism rs35852562 - TTC33 Q6PID6 VAR_032317 p.Leu69Met Polymorphism rs837105 - TTC36 A6NLP5 VAR_042972 p.Ile78Met Polymorphism rs7111428 - TTC37 Q6PGP7 VAR_027705 p.Leu437Val Polymorphism rs17084873 - TTC37 Q6PGP7 VAR_027706 p.Arg1296Ser Polymorphism rs2303650 - TTC37 Q6PGP7 VAR_065298 p.Ala1077Asp Unclassified - - TTC37 Q6PGP7 VAR_065299 p.Pro1270Ala Unclassified - - TTC37 Q6PGP7 VAR_065300 p.Leu1485Arg Unclassified - - TTC38 Q5R3I4 VAR_039344 p.Phe243Leu Polymorphism rs130642 - TTC39B Q5VTQ0 VAR_032926 p.Ile420Val Polymorphism rs1407977 - TTC39B Q5VTQ0 VAR_054078 p.Thr128Pro Polymorphism rs10961917 - TTC3 P53804 VAR_014491 p.Phe1117Leu Polymorphism rs1133022 - TTC3 P53804 VAR_020312 p.Met840Thr Polymorphism rs1053808 - TTC3 P53804 VAR_024676 p.Asp1751His Polymorphism rs1053966 - TTC3 P53804 VAR_035868 p.Lys1289Met Unclassified - A breast cancer sample TTC3 P53804 VAR_044426 p.Ser1063Thr Polymorphism rs1133021 - TTC3 P53804 VAR_044427 p.Asn1128His Polymorphism rs1053833 - TTC3 P53804 VAR_044428 p.Pro1154Ser Polymorphism rs1053840 - TTC40 Q8IYW2 VAR_023208 p.Ala2331Thr Polymorphism rs4880433 - TTC40 Q8IYW2 VAR_023209 p.Ser2540Gly Polymorphism rs2254419 - TTC40 Q8IYW2 VAR_046201 p.Ser264Asn Polymorphism rs12781609 - TTC40 Q8IYW2 VAR_056823 p.Cys2125Arg Polymorphism rs10870341 - TTC40 Q8IYW2 VAR_056824 p.Glu2249Lys Polymorphism rs12356978 - TTC40 Q8IYW2 VAR_056825 p.Leu2499Phe Polymorphism rs3750587 - TTC40 Q8IYW2 VAR_056826 p.Lys2658Gln Polymorphism rs35981039 - TTC4 O95801 VAR_031713 p.Ser47Thr Polymorphism rs1147990 - TTC5 Q8N0Z6 VAR_034131 p.Gln14His Polymorphism rs34675160 - TTC5 Q8N0Z6 VAR_055293 p.Gln47Arg Polymorphism rs3742945 - TTC6 Q86TZ1 VAR_024677 p.Thr140Ile Polymorphism rs4901284 - TTC6 Q86TZ1 VAR_034132 p.Ile87Ser Polymorphism rs12896790 - TTC6 Q86TZ1 VAR_034133 p.Ala98Thr Polymorphism rs17768654 - TTC6 Q86TZ1 VAR_034134 p.Thr376Ser Polymorphism rs17107176 - TTC7A Q9ULT0 VAR_016602 p.Val538Leu Polymorphism rs2304290 - TTC7A Q9ULT0 VAR_052624 p.Val545Ile Polymorphism rs6755258 - TTC9B Q8N6N2 VAR_052625 p.Leu223Pro Polymorphism rs11553464 - TTC9 Q92623 VAR_060330 p.Pro103Ala Polymorphism rs4902834 - TTF1 Q15361 VAR_027563 p.Glu35Lys Polymorphism rs11550314 - TTF1 Q15361 VAR_027564 p.Ala290Ser Polymorphism rs8999 - TTF1 Q15361 VAR_027565 p.Val303Ala Polymorphism rs3739914 - TTF1 Q15361 VAR_027566 p.Gly360Val Polymorphism rs3739915 - TTF1 Q15361 VAR_027567 p.Arg401Gln Polymorphism rs3739916 - TTF1 Q15361 VAR_050201 p.Glu473Lys Polymorphism rs12336746 - TTF1 Q15361 VAR_061363 p.Ala885Val Polymorphism rs1752676 - TTF2 Q9UNY4 VAR_023393 p.Lys167Glu Polymorphism rs998532 - TTF2 Q9UNY4 VAR_034431 p.Lys213Arg Polymorphism rs7535524 - TTF2 Q9UNY4 VAR_061234 p.Glu256Gly Polymorphism rs34334470 - TTF2 Q9UNY4 VAR_061235 p.Lys1134Arg Polymorphism rs41276572 - TTF2 Q9UNY4 VAR_061236 p.Asp1155His Polymorphism rs34236116 - TTI1 O43156 VAR_014082 p.Ala671Val Polymorphism rs1057238 - TTI1 O43156 VAR_014083 p.Ala979Thr Polymorphism rs1064275 - TTI1 O43156 VAR_034033 p.Arg450His Polymorphism rs36059660 - TTI1 O43156 VAR_034034 p.Arg1028Lys Polymorphism rs34900517 - TTI1 O43156 VAR_049509 p.Lys751Glu Polymorphism rs6091654 - TTI2 Q6NXR4 VAR_030886 p.Glu63Gly Polymorphism rs2304748 - TTI2 Q6NXR4 VAR_030887 p.Leu425Arg Polymorphism rs3736497 - TTK P33981 VAR_037141 p.Ala97Val Polymorphism rs2230513 - TTK P33981 VAR_037142 p.Asp758Asn Polymorphism rs2230512 - TTLL10 Q6ZVT0 VAR_039806 p.Ala130Thr Unclassified - A colorectal cancer sample TTLL10 Q6ZVT0 VAR_039807 p.Val249Ala Polymorphism rs13374146 - TTLL10 Q6ZVT0 VAR_039808 p.Ser448Asn Polymorphism rs1320571 - TTLL10 Q6ZVT0 VAR_058480 p.Gly578Asp Polymorphism rs2274791 - TTLL12 Q14166 VAR_052413 p.Arg84Trp Polymorphism rs138951 - TTLL12 Q14166 VAR_052414 p.Asn95Ser Polymorphism rs13058467 - TTLL12 Q14166 VAR_052415 p.Val297Met Polymorphism rs11704935 - TTLL12 Q14166 VAR_052416 p.Val464Met Polymorphism rs34074034 - TTLL13 A6NNM8 VAR_057318 p.Ala126Thr Polymorphism rs12912620 - TTLL13 A6NNM8 VAR_057319 p.Thr262Ile Polymorphism rs2063743 - TTLL1 O95922 VAR_052409 p.Ser168Leu Polymorphism rs6003030 - TTLL2 Q9BWV7 VAR_028119 p.Gly3Arg Polymorphism rs12526094 - TTLL2 Q9BWV7 VAR_028120 p.Thr127Ala Polymorphism rs11540664 - TTLL2 Q9BWV7 VAR_028121 p.Leu202Pro Polymorphism rs6936639 - TTLL2 Q9BWV7 VAR_028122 p.Arg425Gly Polymorphism rs909545 - TTLL2 Q9BWV7 VAR_028123 p.Gly445Ser Polymorphism rs9457304 - TTLL2 Q9BWV7 VAR_028124 p.Gln529His Polymorphism rs12528714 - TTLL2 Q9BWV7 VAR_057312 p.Pro63Ser Polymorphism rs34350976 - TTLL2 Q9BWV7 VAR_057313 p.Ile356Val Polymorphism rs34286114 - TTLL2 Q9BWV7 VAR_057314 p.Val559Ile Polymorphism rs34931196 - TTLL2 Q9BWV7 VAR_061866 p.Lys441Thr Polymorphism rs41266331 - TTLL3 Q9Y4R7 VAR_020207 p.Met502Arg Polymorphism rs2290305 - TTLL3 Q9Y4R7 VAR_036054 p.Gly454Ser Unclassified - A colorectal cancer sample TTLL3 Q9Y4R7 VAR_036055 p.Met476Ile Unclassified - A colorectal cancer sample TTLL3 Q9Y4R7 VAR_052410 p.Glu174Lys Polymorphism rs3806669 - TTLL3 Q9Y4R7 VAR_052411 p.Asn418His Polymorphism rs2290302 - TTLL3 Q9Y4R7 VAR_052412 p.Ala689Thr Polymorphism rs1057278 - TTLL4 Q14679 VAR_013140 p.Arg418His Polymorphism rs2114664 - TTLL4 Q14679 VAR_031464 p.Asn17Ser Polymorphism rs11542786 - TTLL4 Q14679 VAR_031465 p.Glu34Gln Polymorphism rs3731877 - TTLL4 Q14679 VAR_031466 p.Leu364Pro Polymorphism rs3731875 - TTLL4 Q14679 VAR_031467 p.Gly518Ser Polymorphism rs17851914 - TTLL4 Q14679 VAR_031468 p.Ser524Gly Polymorphism rs17851915 - TTLL4 Q14679 VAR_031469 p.Ala852Ser Polymorphism rs17856640 - TTLL4 Q14679 VAR_057315 p.Thr1138Ile Polymorphism rs9989776 - TTLL5 Q6EMB2 VAR_057895 p.Ala149Val Polymorphism rs2303345 - TTLL5 Q6EMB2 VAR_057896 p.Glu203Asp Polymorphism rs17856074 - TTLL5 Q6EMB2 VAR_057897 p.Ala592Thr Polymorphism rs11848004 - TTLL5 Q6EMB2 VAR_057898 p.Ala1223Ser Polymorphism rs10130991 - TTLL5 Q6EMB2 VAR_057899 p.Pro1231Thr Polymorphism rs11844617 - TTLL5 Q6EMB2 VAR_057900 p.Phe1267Ser Polymorphism rs1133834 - TTLL6 Q8N841 VAR_039993 p.Glu664Asp Polymorphism rs2032844 - TTLL8 A6PVC2 VAR_057316 p.Arg191His Polymorphism rs17013076 - TTLL8 A6PVC2 VAR_057317 p.Glu294Lys Polymorphism rs9628315 - TTLL8 A6PVC2 VAR_061867 p.Leu127Trp Polymorphism rs59727397 - TTLL9 Q3SXZ7 VAR_039805 p.Tyr76Cys Polymorphism rs17093689 - TTMP Q5BVD1 VAR_027203 p.Ile111Val Polymorphism rs16859190 - TTMP Q5BVD1 VAR_027204 p.Gly144Ser Polymorphism rs340167 - TTMP Q5BVD1 VAR_059736 p.Leu66Pro Polymorphism rs16859172 - TTN Q8WZ42 VAR_026634 p.Arg279Trp Disease - Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689] TTN Q8WZ42 VAR_026635 p.Thr4215Pro Polymorphism - - TTN Q8WZ42 VAR_026636 p.Leu4283Phe Polymorphism - - TTN Q8WZ42 VAR_026685 p.Val54Met Disease - Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026686 p.Arg328Cys Polymorphism rs16866538 - TTN Q8WZ42 VAR_026687 p.Arg740Leu Disease rs28933405 Familial hypertrophic cardiomyopathy type 9 (CMH9) [MIM:613765] TTN Q8WZ42 VAR_026688 p.Ala743Val Disease - Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026689 p.Trp976Arg Disease - Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026690 p.Ser3799Tyr Disease - Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026691 p.Arg4084Gln Polymorphism - - TTN Q8WZ42 VAR_026692 p.Ser4465Asn Disease - Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026693 p.Arg32996Gln Disease - Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145] TTN Q8WZ42 VAR_026694 p.Ile34306Asn Disease - Tardive tibial muscular dystrophy (TMD) [MIM:600334] TTN Q8WZ42 VAR_026695 p.Leu34315Pro Disease - Tardive tibial muscular dystrophy (TMD) [MIM:600334] TTN Q8WZ42 VAR_040078 p.Asp60Tyr Polymorphism rs35683768 - TTN Q8WZ42 VAR_040079 p.Val115Met Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040080 p.Arg360Thr Polymorphism rs56128843 - TTN Q8WZ42 VAR_040081 p.Val498Ile Polymorphism - - TTN Q8WZ42 VAR_040082 p.Thr799Met Unclassified - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040083 p.Thr811Ile Polymorphism rs35813871 - TTN Q8WZ42 VAR_040084 p.Arg922His Polymorphism rs56046320 - TTN Q8WZ42 VAR_040085 p.Glu937Asp Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040086 p.Ala1081Thr Polymorphism rs55914517 - TTN Q8WZ42 VAR_040087 p.Gly1137Arg Polymorphism - - TTN Q8WZ42 VAR_040088 p.Lys1201Glu Polymorphism rs10497520 - TTN Q8WZ42 VAR_040089 p.Val1202Ala Polymorphism - - TTN Q8WZ42 VAR_040090 p.Ser1295Leu Polymorphism rs1552280 - TTN Q8WZ42 VAR_040091 p.Gly1345Asp Polymorphism rs36021856 - TTN Q8WZ42 VAR_040092 p.Ala1347Thr Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040093 p.Arg1350His Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040094 p.Val1353Leu Polymorphism rs36062108 - TTN Q8WZ42 VAR_040095 p.Ile1393Val Polymorphism rs16866531 - TTN Q8WZ42 VAR_040096 p.Arg1416Cys Polymorphism - - TTN Q8WZ42 VAR_040097 p.Arg1441Pro Polymorphism - - TTN Q8WZ42 VAR_040098 p.Ile1544Val Polymorphism - - TTN Q8WZ42 VAR_040099 p.Arg1572Gln Polymorphism rs12476289 - TTN Q8WZ42 VAR_040100 p.Arg1658Gly Polymorphism rs56270960 - TTN Q8WZ42 VAR_040101 p.Arg1664Gln Unclassified - An ovarian mucinous carcinoma sample TTN Q8WZ42 VAR_040102 p.Gly1692Asp Unclassified - A lung squamous cell carcinoma sample TTN Q8WZ42 VAR_040103 p.Pro1744Leu Polymorphism - - TTN Q8WZ42 VAR_040104 p.Ser1772Gly Polymorphism - - TTN Q8WZ42 VAR_040105 p.Thr1907Ile Unclassified - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040106 p.Arg1998His Polymorphism - - TTN Q8WZ42 VAR_040107 p.Pro2107Leu Unclassified - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040108 p.Ile2118Thr Polymorphism rs56404770 - TTN Q8WZ42 VAR_040109 p.Ala2164Thr Polymorphism rs56285559 - TTN Q8WZ42 VAR_040110 p.Asp2240Tyr Polymorphism - - TTN Q8WZ42 VAR_040111 p.Gly2392Ser Polymorphism rs4894048 - TTN Q8WZ42 VAR_040112 p.Leu2432Phe Unclassified - A lung neuroendocrine carcinoma sample TTN Q8WZ42 VAR_040113 p.Met2610Ile Polymorphism rs56142888 - TTN Q8WZ42 VAR_040114 p.Ile2771Met Unclassified - A breast infiltrating ductal carcinoma sample TTN Q8WZ42 VAR_040115 p.Val2823Phe Polymorphism rs33917087 - TTN Q8WZ42 VAR_040116 p.Ser2831Asn Polymorphism rs2306636 - TTN Q8WZ42 VAR_040117 p.Val2930Ile Polymorphism rs56373393 - TTN Q8WZ42 VAR_040118 p.Lys3154Arg Polymorphism - - TTN Q8WZ42 VAR_040119 p.Gln3191Glu Polymorphism - - TTN Q8WZ42 VAR_040120 p.Pro3238Leu Unclassified - A bladder carcinoma sample TTN Q8WZ42 VAR_040121 p.Val3250Gly Polymorphism - - TTN Q8WZ42 VAR_040122 p.Val3261Met Polymorphism - - TTN Q8WZ42 VAR_040123 p.Arg3367Gln Polymorphism - - TTN Q8WZ42 VAR_040124 p.Glu3482Lys Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040125 p.Pro3491Ser Polymorphism - - TTN Q8WZ42 VAR_040126 p.Glu3570Lys Unclassified - A breast pleomorphic lobular carcinoma sample TTN Q8WZ42 VAR_040127 p.Leu3590Val Polymorphism - - TTN Q8WZ42 VAR_040128 p.Ile3762Val Polymorphism - - TTN Q8WZ42 VAR_040129 p.Ile3877Phe Polymorphism - - TTN Q8WZ42 VAR_040130 p.Ile3965Leu Polymorphism - - TTN Q8WZ42 VAR_040131 p.Gly4238Trp Polymorphism - - TTN Q8WZ42 VAR_040132 p.Ile4291Thr Unclassified - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040133 p.Gly4303Asp Polymorphism - - TTN Q8WZ42 VAR_040134 p.Asp4427Glu Polymorphism - - TTN Q8WZ42 VAR_040135 p.Gly12310Glu Polymorphism - - TTN Q8WZ42 VAR_040136 p.His12383Arg Polymorphism - - TTN Q8WZ42 VAR_040137 p.Val12469Ala Polymorphism - - TTN Q8WZ42 VAR_040138 p.Arg12642Cys Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040139 p.Glu12657Lys Unclassified - A Wilms tumor TTN Q8WZ42 VAR_040140 p.Lys12679Glu Polymorphism - - TTN Q8WZ42 VAR_040141 p.Ser12720Phe Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040142 p.Arg12798Cys Polymorphism - - TTN Q8WZ42 VAR_040143 p.Glu13049Gly Polymorphism - - TTN Q8WZ42 VAR_040144 p.Glu13083Lys Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040145 p.Arg13096Leu Polymorphism - - TTN Q8WZ42 VAR_040146 p.Gln13099Arg Unclassified - A lung small cell carcinoma sample TTN Q8WZ42 VAR_040147 p.Val13297Ala Polymorphism - - TTN Q8WZ42 VAR_040148 p.Ile13399Met Polymorphism - - TTN Q8WZ42 VAR_040149 p.Ala13418Thr Polymorphism - - TTN Q8WZ42 VAR_040150 p.Glu13428Val Polymorphism - - TTN Q8WZ42 VAR_040151 p.Ile13430Thr Polymorphism - - TTN Q8WZ42 VAR_040152 p.Arg13434Lys Unclassified - A breast pleomorphic lobular carcinoma sample TTN Q8WZ42 VAR_040153 p.Asp13469Asn Polymorphism - - TTN Q8WZ42 VAR_040154 p.Lys13495Asn Polymorphism - - TTN Q8WZ42 VAR_040155 p.Asn13785Ser Unclassified - A breast pleomorphic lobular carcinoma sample TTN Q8WZ42 VAR_040156 p.Gln13870His Unclassified - A lung small cell carcinoma sample TTN Q8WZ42 VAR_040157 p.Val14109Ile Polymorphism - - TTN Q8WZ42 VAR_040158 p.Arg14131Gln Polymorphism - - TTN Q8WZ42 VAR_040159 p.Pro14208Thr Polymorphism - - TTN Q8WZ42 VAR_040160 p.Leu14728Val Unclassified - A lung adenocarcinoma sample TTN Q8WZ42 VAR_040161 p.Ser14999Thr Polymorphism - - TTN Q8WZ42 VAR_040162 p.Asn15021Thr Polymorphism - - TTN Q8WZ42 VAR_040163 p.Ala15520Val Polymorphism - - TTN Q8WZ42 VAR_040164 p.Arg15555Ile Unclassified - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040165 p.Arg15620Gln Polymorphism - - TTN Q8WZ42 VAR_040166 p.Ser15629Ile Polymorphism - - TTN Q8WZ42 VAR_040167 p.Tyr15635Cys Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040168 p.Arg15700Gln Polymorphism - - TTN Q8WZ42 VAR_040169 p.Leu15705Pro Polymorphism - - TTN Q8WZ42 VAR_040170 p.Ile15837Met Polymorphism - - TTN Q8WZ42 VAR_040171 p.Arg16058His Polymorphism - - TTN Q8WZ42 VAR_040172 p.Lys16067Ile Polymorphism - - TTN Q8WZ42 VAR_040173 p.Ile16090Thr Polymorphism - - TTN Q8WZ42 VAR_040174 p.Arg16195His Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040175 p.Arg16409Cys Polymorphism - - TTN Q8WZ42 VAR_040176 p.Arg16424Pro Polymorphism - - TTN Q8WZ42 VAR_040177 p.Ile16629Met Polymorphism - - TTN Q8WZ42 VAR_040178 p.Lys16877Arg Polymorphism - - TTN Q8WZ42 VAR_040179 p.Asn17060Asp Polymorphism - - TTN Q8WZ42 VAR_040180 p.Ile17637Val Polymorphism - - TTN Q8WZ42 VAR_040181 p.Arg17838His Polymorphism - - TTN Q8WZ42 VAR_040182 p.Asp17866Asn Polymorphism - - TTN Q8WZ42 VAR_040183 p.Gly17906Glu Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040184 p.Glu18094Ala Polymorphism - - TTN Q8WZ42 VAR_040185 p.Gly18109Ser Polymorphism - - TTN Q8WZ42 VAR_040186 p.Arg18164Thr Unclassified - An ovarian serous carcinoma sample TTN Q8WZ42 VAR_040187 p.Pro18221Leu Polymorphism - - TTN Q8WZ42 VAR_040188 p.Ala18222Thr Polymorphism - - TTN Q8WZ42 VAR_040189 p.Arg18726Gln Polymorphism - - TTN Q8WZ42 VAR_040190 p.Val18835Ala Unclassified - A breast infiltrating ductal carcinoma sample TTN Q8WZ42 VAR_040191 p.Arg18881Lys Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040192 p.Asn18939Ser Polymorphism - - TTN Q8WZ42 VAR_040193 p.Arg19000Gln Polymorphism - - TTN Q8WZ42 VAR_040194 p.Leu19060Gln Unclassified - A lung large cell carcinoma sample TTN Q8WZ42 VAR_040195 p.Arg19091Lys Unclassified - A lung large cell carcinoma sample TTN Q8WZ42 VAR_040196 p.Pro19224Ser Unclassified - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040197 p.Thr19367Ile Polymorphism - - TTN Q8WZ42 VAR_040198 p.Glu19392Lys Unclassified - A lung neuroendocrine carcinoma sample TTN Q8WZ42 VAR_040199 p.Ala19480Ser Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040200 p.Asp19495Gly Polymorphism - - TTN Q8WZ42 VAR_040201 p.Arg19665His Polymorphism - - TTN Q8WZ42 VAR_040202 p.Thr19762Ile Polymorphism - - TTN Q8WZ42 VAR_040203 p.Gly19947Arg Polymorphism - - TTN Q8WZ42 VAR_040204 p.Val19956Met Polymorphism - - TTN Q8WZ42 VAR_040205 p.Arg19992Gln Polymorphism - - TTN Q8WZ42 VAR_040206 p.Arg20057Cys Polymorphism - - TTN Q8WZ42 VAR_040207 p.Ser20075Leu Polymorphism - - TTN Q8WZ42 VAR_040208 p.Thr20179Lys Polymorphism - - TTN Q8WZ42 VAR_040209 p.Ala20198Thr Polymorphism - - TTN Q8WZ42 VAR_040210 p.Ala20198Val Polymorphism - - TTN Q8WZ42 VAR_040211 p.Arg20331His Polymorphism - - TTN Q8WZ42 VAR_040212 p.Ala20408Thr Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040213 p.Arg20564Lys Polymorphism - - TTN Q8WZ42 VAR_040214 p.Val20718Ile Polymorphism - - TTN Q8WZ42 VAR_040215 p.Ser20726Pro Polymorphism - - TTN Q8WZ42 VAR_040216 p.Thr20892Asn Polymorphism - - TTN Q8WZ42 VAR_040217 p.Ser20894Arg Polymorphism - - TTN Q8WZ42 VAR_040218 p.Asp21125Glu Polymorphism - - TTN Q8WZ42 VAR_040219 p.Pro21403Ser Polymorphism - - TTN Q8WZ42 VAR_040220 p.Arg21730Cys Polymorphism - - TTN Q8WZ42 VAR_040221 p.Arg21747Gln Polymorphism - - TTN Q8WZ42 VAR_040222 p.Cys21851Arg Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040223 p.Gly21925Arg Polymorphism - - TTN Q8WZ42 VAR_040224 p.Arg21995His Polymorphism - - TTN Q8WZ42 VAR_040225 p.Ala22045Val Polymorphism - - TTN Q8WZ42 VAR_040226 p.Arg22149His Polymorphism - - TTN Q8WZ42 VAR_040227 p.Val22160Ile Polymorphism - - TTN Q8WZ42 VAR_040228 p.Ile22261Thr Polymorphism - - TTN Q8WZ42 VAR_040229 p.Lys22306Asn Polymorphism - - TTN Q8WZ42 VAR_040230 p.Arg22357His Polymorphism - - TTN Q8WZ42 VAR_040231 p.Leu22408Pro Polymorphism - - TTN Q8WZ42 VAR_040232 p.Gln22537His Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040233 p.Pro22584Leu Polymorphism - - TTN Q8WZ42 VAR_040234 p.Leu22646Pro Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040235 p.Thr22670Ala Polymorphism - - TTN Q8WZ42 VAR_040236 p.Ala22770Asp Polymorphism - - TTN Q8WZ42 VAR_040237 p.Ala22801Thr Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040238 p.Arg22823Trp Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040239 p.Glu22968Gln Polymorphism - - TTN Q8WZ42 VAR_040240 p.Pro23074Leu Polymorphism - - TTN Q8WZ42 VAR_040241 p.Leu23079Phe Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040242 p.Asp23282Asn Unclassified - A breast infiltrating ductal carcinoma sample TTN Q8WZ42 VAR_040243 p.His23303Tyr Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040244 p.Arg23306Cys Polymorphism - - TTN Q8WZ42 VAR_040245 p.Ala23515Ser Unclassified - A lung squamous cell carcinoma sample TTN Q8WZ42 VAR_040246 p.Glu23551Gln Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040247 p.Ser23807Asn Polymorphism - - TTN Q8WZ42 VAR_040248 p.Asp23872Asn Unclassified - An ovarian serous carcinoma sample TTN Q8WZ42 VAR_040249 p.Val23891Ala Polymorphism - - TTN Q8WZ42 VAR_040250 p.Tyr23933His Polymorphism - - TTN Q8WZ42 VAR_040251 p.Thr23939Met Polymorphism - - TTN Q8WZ42 VAR_040252 p.Phe23952Leu Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040253 p.Ala24098Gly Polymorphism - - TTN Q8WZ42 VAR_040254 p.Asn24119Ser Polymorphism - - TTN Q8WZ42 VAR_040255 p.Val24133Ile Polymorphism - - TTN Q8WZ42 VAR_040256 p.Val24159Ala Unclassified - Neck squamous cell carcinoma sample TTN Q8WZ42 VAR_040257 p.Thr24239Ala Polymorphism - - TTN Q8WZ42 VAR_040258 p.Glu24265Lys Polymorphism - - TTN Q8WZ42 VAR_040259 p.Ile24584Thr Polymorphism - - TTN Q8WZ42 VAR_040260 p.Ile24781Thr Polymorphism - - TTN Q8WZ42 VAR_040261 p.Arg24799His Polymorphism - - TTN Q8WZ42 VAR_040262 p.Asp24954His Polymorphism - - TTN Q8WZ42 VAR_040263 p.Thr24980Met Polymorphism - - TTN Q8WZ42 VAR_040264 p.Arg25659His Polymorphism - - TTN Q8WZ42 VAR_040265 p.Ala25679Thr Polymorphism - - TTN Q8WZ42 VAR_040266 p.Pro25720Ala Polymorphism - - TTN Q8WZ42 VAR_040267 p.Thr25821Lys Polymorphism - - TTN Q8WZ42 VAR_040268 p.Glu25859Lys Unclassified - A metastatic melanoma sample TTN Q8WZ42 VAR_040269 p.Asn25879Lys Polymorphism - - TTN Q8WZ42 VAR_040270 p.Ala25923Val Polymorphism - - TTN Q8WZ42 VAR_040271 p.Val26045Ile Polymorphism - - TTN Q8WZ42 VAR_040272 p.Lys26059Glu Unclassified - A lung small cell carcinoma sample TTN Q8WZ42 VAR_040273 p.Ile26134Val Polymorphism - - TTN Q8WZ42 VAR_040274 p.Arg26477Cys Polymorphism - - TTN Q8WZ42 VAR_040275 p.Asp26843Tyr Polymorphism - - TTN Q8WZ42 VAR_040276 p.Lys27346Arg Polymorphism - - TTN Q8WZ42 VAR_040277 p.Arg27652Cys Polymorphism - - TTN Q8WZ42 VAR_040278 p.Gly27728Val Polymorphism - - TTN Q8WZ42 VAR_040279 p.Phe27754Leu Polymorphism - - TTN Q8WZ42 VAR_040280 p.Ile27755Thr Polymorphism - - TTN Q8WZ42 VAR_040281 p.Ile27929Val Polymorphism - - TTN Q8WZ42 VAR_040282 p.Ile28132Leu Polymorphism - - TTN Q8WZ42 VAR_040283 p.Arg28168Gln Polymorphism - - TTN Q8WZ42 VAR_040284 p.Arg28538His Polymorphism - - TTN Q8WZ42 VAR_040285 p.Ile28572Thr Polymorphism - - TTN Q8WZ42 VAR_040286 p.Ala28948Thr Polymorphism - - TTN Q8WZ42 VAR_040287 p.Ile28986Val Polymorphism - - TTN Q8WZ42 VAR_040288 p.Gly28993Glu Polymorphism - - TTN Q8WZ42 VAR_040289 p.Leu28998Val Polymorphism - - TTN Q8WZ42 VAR_040290 p.Val29070Met Polymorphism - - TTN Q8WZ42 VAR_040291 p.Ile29090Val Polymorphism - - TTN Q8WZ42 VAR_040292 p.Arg29419Cys Polymorphism - - TTN Q8WZ42 VAR_040293 p.Leu29479Pro Polymorphism - - TTN Q8WZ42 VAR_040294 p.Ser29880Leu Unclassified - A colorectal adenocarcinoma sample TTN Q8WZ42 VAR_040295 p.Asp29976Glu Polymorphism - - TTN Q8WZ42 VAR_040296 p.Ser30042Gly Polymorphism - - TTN Q8WZ42 VAR_040297 p.Arg30107Cys Polymorphism - - TTN Q8WZ42 VAR_040298 p.Ser30125Phe Polymorphism - - TTN Q8WZ42 VAR_040299 p.Leu30211Pro Polymorphism - - TTN Q8WZ42 VAR_040300 p.Ile30412Thr Polymorphism - - TTN Q8WZ42 VAR_040301 p.Thr30617Ser Unclassified - A renal chromophobe cancer sample TTN Q8WZ42 VAR_040302 p.Thr30674Ile Polymorphism - - TTN Q8WZ42 VAR_040303 p.Val30809Ile Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040304 p.Phe30818Ile Polymorphism - - TTN Q8WZ42 VAR_040305 p.Glu30825Lys Polymorphism - - TTN Q8WZ42 VAR_040306 p.Ile30856Thr Polymorphism - - TTN Q8WZ42 VAR_040307 p.Gly30887Asp Polymorphism - - TTN Q8WZ42 VAR_040308 p.Gly30887Ser Polymorphism - - TTN Q8WZ42 VAR_040309 p.Arg30897His Polymorphism - - TTN Q8WZ42 VAR_040310 p.Arg30907His Polymorphism - - TTN Q8WZ42 VAR_040311 p.Arg30946His Polymorphism - - TTN Q8WZ42 VAR_040312 p.Ile31081Phe Polymorphism - - TTN Q8WZ42 VAR_040313 p.Arg31107Cys Polymorphism - - TTN Q8WZ42 VAR_040314 p.Ala31124Gly Polymorphism - - TTN Q8WZ42 VAR_040315 p.Asn31156Ser Polymorphism - - TTN Q8WZ42 VAR_040316 p.Pro31246Thr Polymorphism - - TTN Q8WZ42 VAR_040317 p.Arg31330His Polymorphism - - TTN Q8WZ42 VAR_040318 p.Cys31690Arg Polymorphism - - TTN Q8WZ42 VAR_040319 p.Arg31724Gln Polymorphism - - TTN Q8WZ42 VAR_040320 p.Val31725Ile Polymorphism - - TTN Q8WZ42 VAR_040321 p.Gly31732Ser Polymorphism - - TTN Q8WZ42 VAR_040322 p.Val31886Ile Polymorphism - - TTN Q8WZ42 VAR_040323 p.Arg32097Cys Polymorphism - - TTN Q8WZ42 VAR_040324 p.Thr32171Asn Unclassified - A lung large cell carcinoma sample TTN Q8WZ42 VAR_040325 p.Val32248Ile Polymorphism - - TTN Q8WZ42 VAR_040326 p.Gln32281His Polymorphism - - TTN Q8WZ42 VAR_040327 p.Arg32323His Polymorphism - - TTN Q8WZ42 VAR_040328 p.Arg32411Trp Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040329 p.Ile32558Val Polymorphism - - TTN Q8WZ42 VAR_040330 p.Met32610Val Polymorphism - - TTN Q8WZ42 VAR_040331 p.Gly32637Val Polymorphism - - TTN Q8WZ42 VAR_040332 p.Val32922Ala Polymorphism - - TTN Q8WZ42 VAR_040333 p.Leu32943Arg Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040334 p.Arg32953His Polymorphism - - TTN Q8WZ42 VAR_040335 p.Val33213Leu Polymorphism - - TTN Q8WZ42 VAR_040336 p.Arg33242Cys Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040337 p.Thr33387Met Polymorphism - - TTN Q8WZ42 VAR_040338 p.Glu33419Asp Polymorphism - - TTN Q8WZ42 VAR_040339 p.Val33536Met Polymorphism - - TTN Q8WZ42 VAR_040340 p.Lys33568Gln Polymorphism - - TTN Q8WZ42 VAR_040341 p.Glu33616Lys Polymorphism - - TTN Q8WZ42 VAR_040342 p.Pro33620Leu Polymorphism - - TTN Q8WZ42 VAR_040343 p.Glu33886Val Polymorphism - - TTN Q8WZ42 VAR_040344 p.Ile33899Thr Polymorphism - - TTN Q8WZ42 VAR_040345 p.Leu33904Pro Unclassified - A gastric adenocarcinoma sample TTN Q8WZ42 VAR_040346 p.Thr33955Ile Polymorphism - - TTN Q8WZ42 VAR_040347 p.Val34115Ala Polymorphism - - TTN Q8WZ42 VAR_056081 p.Ser1249Leu Polymorphism rs1552280 - TTN Q8WZ42 VAR_056082 p.Asn3026Ile Polymorphism rs11900987 - TTN Q8WZ42 VAR_056083 p.Ser3419Asn Polymorphism rs2291310 - TTN Q8WZ42 VAR_056084 p.Pro3637Ser Polymorphism rs2627037 - TTN Q8WZ42 VAR_056085 p.Ala8288Val Polymorphism rs16866412 - TTN Q8WZ42 VAR_056086 p.Ile8474Thr Polymorphism rs4893852 - TTN Q8WZ42 VAR_056087 p.Val16575Met Polymorphism rs3813243 - TTN Q8WZ42 VAR_056088 p.Arg20359Lys Polymorphism rs9808036 - TTN Q8WZ42 VAR_056089 p.Ala24098Thr Polymorphism rs4894028 - TTPAL Q9BTX7 VAR_061788 p.Ala278Gly Polymorphism rs59069332 - TTPA P49638 VAR_005668 p.His101Gln Disease - Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_007858 p.Arg192His Disease rs28936369 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022388 p.Arg59Trp Disease - Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022389 p.Ala120Thr Disease - Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022390 p.Glu141Lys Disease - Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022391 p.Arg221Trp Disease rs35916840 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_022392 p.Gly246Arg Disease - Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] TTPA P49638 VAR_037973 p.Thr172Ser Polymorphism rs34647756 - TTR P02766 VAR_007546 p.Gly26Ser Polymorphism rs1800458 - TTR P02766 VAR_007547 p.Cys30Arg Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007548 p.Asp38Glu Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007549 p.Asp38Gly Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007550 p.Val40Ile Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007551 p.Pro44Ser Disease rs11541790 Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007552 p.Val50Ala Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007553 p.Val50Leu Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007554 p.Val50Met Disease rs28933979 Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007555 p.Phe53Ile Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007556 p.Phe53Leu Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007557 p.Ala56Pro Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007558 p.Glu62Gly Disease rs11541796 Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007559 p.Ala65Asp Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007560 p.Ala65Thr Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007561 p.Gly67Ala Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007562 p.Gly67Arg Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007563 p.Gly67Val Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007564 p.Thr69Ala Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007565 p.Ser70Ile Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007566 p.Ser70Arg Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007567 p.Ser72Pro Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007568 p.Glu74Gly Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007569 p.Leu75Pro Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007570 p.Leu78His Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007571 p.Leu78Arg Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007572 p.Thr79Lys Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007573 p.Thr80Ala Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007574 p.Glu81Lys Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007575 p.Phe84Leu Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007576 p.Ile88Leu Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007577 p.Tyr89His Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007578 p.Lys90Asn Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007579 p.Val91Ala Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007580 p.Ile93Val Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007581 p.Asp94His Polymorphism - - TTR P02766 VAR_007582 p.Ser97Tyr Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007583 p.Ile104Asn Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007584 p.Ile104Ser Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007585 p.Glu109Gln Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007586 p.His110Asn Polymorphism - - TTR P02766 VAR_007587 p.Ala111Ser Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007588 p.Ala117Gly Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007589 p.Gly121Ser Polymorphism - - TTR P02766 VAR_007590 p.Pro122Arg Polymorphism - - TTR P02766 VAR_007591 p.Arg124Cys Polymorphism - - TTR P02766 VAR_007592 p.Ile127Val Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007593 p.Ala129Thr Disease - Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680] TTR P02766 VAR_007594 p.Leu131Met Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007595 p.Tyr134Cys Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007596 p.Tyr136Ser Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_007597 p.Tyr136Val Unclassified - - TTR P02766 VAR_007598 p.Tyr134His Disease - Carpal tunnel syndrome type 1 (CTS1) [MIM:115430] TTR P02766 VAR_007599 p.Thr139Met Polymorphism rs28933981 - TTR P02766 VAR_007600 p.Val142Ile Disease rs28933980 Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_010658 p.Val48Met Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_010659 p.Glu109Lys Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038959 p.Leu32Pro Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038960 p.Met33Ile Polymorphism - - TTR P02766 VAR_038961 p.Ser43Asn Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038962 p.Val50Gly Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038963 p.Phe53Cys Unclassified - - TTR P02766 VAR_038964 p.Phe53Val Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038965 p.Arg54Thr Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038966 p.Lys55Asn Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038967 p.Asp58Ala Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038968 p.Asp58Val Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038969 p.Trp61Leu Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038970 p.Glu62Asp Disease rs11541796 Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038971 p.Phe64Ser Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038972 p.Ala65Ser Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038973 p.Gly67Glu Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038974 p.Thr69Ile Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038975 p.Gly73Glu Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038976 p.Glu74Lys Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038977 p.Leu75Gln Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038978 p.Glu81Gly Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038979 p.Tyr98Phe Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038980 p.Ile104Thr Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038981 p.Val114Ala Unclassified - - TTR P02766 VAR_038982 p.Ala117Ser Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038983 p.Arg124His Polymorphism - - TTR P02766 VAR_038984 p.Thr126Asn Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038985 p.Ile127Met Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038986 p.Ala140Ser Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038987 p.Val142Ala Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTR P02766 VAR_038988 p.Asn144Ser Disease - Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] TTYH2 Q9BSA4 VAR_037460 p.Pro11His Polymorphism rs11538875 - TTYH2 Q9BSA4 VAR_037461 p.His85Asp Polymorphism rs11538876 - TTYH2 Q9BSA4 VAR_037462 p.Ala262Thr Polymorphism rs35682745 - TTYH2 Q9BSA4 VAR_037463 p.Ser265Ala Polymorphism rs35999669 - TTYH2 Q9BSA4 VAR_037464 p.Thr419Ile Polymorphism rs12600564 - TTYH2 Q9BSA4 VAR_037465 p.Asp423Glu Polymorphism rs9899862 - TTYH2 Q9BSA4 VAR_057791 p.Ala409Glu Polymorphism rs9892705 - TUBA1A Q71U36 VAR_034540 p.Glu447Lys Polymorphism rs1065730 - TUBA1A Q71U36 VAR_039332 p.Ile188Leu Disease - Lissencephaly type 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039333 p.Pro263Thr Disease - Lissencephaly type 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039334 p.Arg264Cys Disease - Lissencephaly type 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039335 p.Leu286Phe Disease - Lissencephaly type 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039336 p.Arg402Cys Disease - Lissencephaly type 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039337 p.Arg402His Disease - Lissencephaly type 3 (LIS3) [MIM:611603] TUBA1A Q71U36 VAR_039338 p.Ser419Leu Disease - Lissencephaly type 3 (LIS3) [MIM:611603] TUBA3C Q13748 VAR_022068 p.Val440Met Polymorphism rs1803092 - TUBA3C Q13748 VAR_034541 p.Val75Leu Polymorphism rs36215077 - TUBA3C Q13748 VAR_052666 p.Asp392Val Polymorphism rs17076703 - TUBA3E Q6PEY2 VAR_052667 p.Ser101Asn Polymorphism rs3863907 - TUBA3E Q6PEY2 VAR_052668 p.Ala126Val Polymorphism rs13000721 - TUBA3E Q6PEY2 VAR_052669 p.Trp402Arg Polymorphism rs1052422 - TUBA3E Q6PEY2 VAR_054640 p.Ser162Gly Polymorphism rs2261398 - TUBA3E Q6PEY2 VAR_054641 p.Ala449Glu Polymorphism rs10208844 - TUBA8 Q9NY65 VAR_024680 p.Gln301Arg Polymorphism rs2234333 - TUBA8 Q9NY65 VAR_052670 p.Ala128Val Polymorphism rs2234331 - TUBAL3 A6NHL2 VAR_037706 p.Gln135His Polymorphism rs11818372 - TUBAL3 A6NHL2 VAR_037707 p.Arg250Trp Polymorphism rs34080891 - TUBB1 Q9H4B7 VAR_034542 p.Gln43His Polymorphism rs415064 - TUBB1 Q9H4B7 VAR_034543 p.Gln43Pro Polymorphism rs463312 - TUBB1 Q9H4B7 VAR_052671 p.Thr274Met Polymorphism rs35565630 - TUBB1 Q9H4B7 VAR_052672 p.Arg307His Polymorphism rs6070697 - TUBB1 Q9H4B7 VAR_063411 p.Arg318Trp Disease - Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112] TUBB2A Q13885 VAR_036197 p.Arg62Trp Unclassified - A colorectal cancer sample TUBB2B Q9BVA1 VAR_063389 p.Ser172Pro Disease - Polymicrogyria, symmetric or asymmetric (PMGYSA) [MIM:610031] TUBB2B Q9BVA1 VAR_063390 p.Cys201Ser Polymorphism rs1054331 - TUBB2B Q9BVA1 VAR_063391 p.Ile210Thr Disease - Polymicrogyria, symmetric or asymmetric (PMGYSA) [MIM:610031] TUBB2B Q9BVA1 VAR_063392 p.Leu228Pro Disease - Polymicrogyria, symmetric or asymmetric (PMGYSA) [MIM:610031] TUBB2B Q9BVA1 VAR_063393 p.Phe265Leu Disease - Polymicrogyria, symmetric or asymmetric (PMGYSA) [MIM:610031] TUBB2B Q9BVA1 VAR_063394 p.Thr312Met Disease - Polymicrogyria, symmetric or asymmetric (PMGYSA) [MIM:610031] TUBB3 Q13509 VAR_062758 p.Arg62Gln Disease - Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062759 p.Arg262Cys Disease - Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062760 p.Arg262His Disease - Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062761 p.Ala302Thr Disease - Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062762 p.Arg380Cys Disease - Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062763 p.Glu410Lys Disease - Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062764 p.Asp417His Disease - Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] TUBB3 Q13509 VAR_062765 p.Asp417Asn Disease - Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] TUBB4A P04350 VAR_026044 p.Ala365Val Polymorphism rs1053267 - TUBB4A P04350 VAR_052673 p.Ile155Met Polymorphism rs1053262 - TUBB8 Q3ZCM7 VAR_039240 p.Leu345Phe Polymorphism rs4880608 - TUBD1 Q9UJT1 VAR_030000 p.Met76Thr Polymorphism rs1292053 - TUBG1 P23258 VAR_052674 p.Met413Val Polymorphism rs13663 - TUBG2 Q9NRH3 VAR_020418 p.Met413Val Polymorphism rs1046097 - TUBGCP2 Q9BSJ2 VAR_022126 p.Ala111Thr Polymorphism rs2298121 - TUBGCP2 Q9BSJ2 VAR_049249 p.Ile193Thr Polymorphism rs11101682 - TUBGCP2 Q9BSJ2 VAR_049250 p.Ala809Thr Polymorphism rs11101677 - TUBGCP3 Q96CW5 VAR_049251 p.Thr208Ser Polymorphism rs1044287 - TUBGCP5 Q96RT8 VAR_049252 p.Glu662Asp Polymorphism rs35612840 - TUBGCP6 Q96RT7 VAR_031594 p.Leu567Ser Polymorphism rs4838865 - TUBGCP6 Q96RT7 VAR_055852 p.Leu104Pro Polymorphism rs8137873 - TUBGCP6 Q96RT7 VAR_055853 p.Ile624Met Polymorphism rs35573482 - TUBGCP6 Q96RT7 VAR_055854 p.Ala884Val Polymorphism rs34455105 - TUBGCP6 Q96RT7 VAR_055855 p.Val1232Met Polymorphism rs17248287 - TUBGCP6 Q96RT7 VAR_055856 p.Ser1364Cys Polymorphism rs5771107 - TUBGCP6 Q96RT7 VAR_055857 p.Thr1377Ala Polymorphism rs11703226 - TUBGCP6 Q96RT7 VAR_055858 p.Val1621Leu Polymorphism rs4838864 - TUFM P49411 VAR_031902 p.Arg336Gln Disease - Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678] TUFT1 Q9NNX1 VAR_034574 p.Lys296Arg Polymorphism rs16833395 - TUFT1 Q9NNX1 VAR_052424 p.Gln18Arg Polymorphism rs3828054 - TULP1 O00294 VAR_007941 p.Arg420Pro Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_007942 p.Ile459Lys Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_007943 p.Phe491Leu Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008274 p.Thr67Arg Polymorphism rs7764472 - TULP1 O00294 VAR_008275 p.Ala245Val Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008276 p.Ile259Thr Polymorphism rs2064317 - TULP1 O00294 VAR_008277 p.Lys261Thr Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008278 p.Arg378His Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008279 p.Thr454Met Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008280 p.Lys489Arg Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_008281 p.Ala496Thr Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_034575 p.Lys261Asn Polymorphism rs2064318 - TULP1 O00294 VAR_037584 p.Phe382Ser Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP1 O00294 VAR_065500 p.Gly368Trp Disease - Leber congenital amaurosis type 15 (LCA15) [MIM:613843] TULP1 O00294 VAR_065501 p.Arg400Trp Disease - Leber congenital amaurosis type 15 (LCA15) [MIM:613843] TULP1 O00294 VAR_065502 p.Arg482Trp Disease - Retinitis pigmentosa type 14 (RP14) [MIM:600132] TULP2 O00295 VAR_022136 p.Glu245Lys Polymorphism rs2270945 - TULP2 O00295 VAR_024679 p.Asp251Asn Polymorphism rs8112811 - TULP2 O00295 VAR_029312 p.Ala18Thr Polymorphism rs7260579 - TULP2 O00295 VAR_057320 p.Gly122Ser Polymorphism rs34378208 - TULP2 O00295 VAR_064760 p.Val149Ile Unclassified - - TULP4 Q9NRJ4 VAR_052417 p.Gly214Ser Polymorphism rs35262826 - TULP4 Q9NRJ4 VAR_052418 p.Ser522Asn Polymorphism rs12206717 - TULP4 Q9NRJ4 VAR_052419 p.Asp979Asn Polymorphism rs34622886 - TULP4 Q9NRJ4 VAR_052420 p.Val1084Ile Polymorphism rs34559793 - TULP4 Q9NRJ4 VAR_052421 p.Pro1281Thr Polymorphism rs3749852 - TULP4 Q9NRJ4 VAR_059841 p.Arg199Ser Polymorphism rs705956 - TUSC1 Q2TAM9 VAR_037471 p.Asn123Asp Polymorphism rs34498078 - TUSC3 Q13454 VAR_045836 p.Ile65Val Polymorphism rs11545035 - TUSC5 Q8IXB3 VAR_029589 p.His3Tyr Polymorphism - - TUSC5 Q8IXB3 VAR_029590 p.Pro15Ser Polymorphism - - TUSC5 Q8IXB3 VAR_029591 p.Ala18Thr Polymorphism - - TUSC5 Q8IXB3 VAR_029592 p.Phe20Ser Polymorphism rs6502774 - TUSC5 Q8IXB3 VAR_029593 p.Glu34Asp Polymorphism - - TUSC5 Q8IXB3 VAR_029594 p.Ser57Gly Polymorphism rs6502776 - TUT1 Q9H6E5 VAR_028833 p.Leu442Phe Polymorphism rs3197865 - TVP23B Q9NYZ1 VAR_060476 p.Gly55Glu Polymorphism rs61075345 - TVP23C Q96ET8 VAR_024929 p.Asp12Ala Polymorphism rs17850827 - TVP23C Q96ET8 VAR_055797 p.Leu271Gln Polymorphism rs12150518 - TWF2 Q6IBS0 VAR_042407 p.Arg72Cys Polymorphism rs35114109 - TWF2 Q6IBS0 VAR_042408 p.Gln76Arg Polymorphism rs35711542 - TWF2 Q6IBS0 VAR_042409 p.Ala103Thr Unclassified - A lung neuroendocrine carcinoma sample TWIST1 Q15672 VAR_004495 p.Gln119Pro Disease - Saethre-Chotzen syndrome (SCS) [MIM:101400] TWIST1 Q15672 VAR_004496 p.Leu131Pro Disease - Saethre-Chotzen syndrome (SCS) [MIM:101400] TWIST1 Q15672 VAR_014821 p.Ser31Gly Polymorphism rs1800126 - TWIST1 Q15672 VAR_014822 p.Gly84Ser Polymorphism rs2234705 - TWIST1 Q15672 VAR_015219 p.Ile156Val Disease - Saethre-Chotzen syndrome (SCS) [MIM:101400] TWIST1 Q15672 VAR_034985 p.Ala186Thr Disease - Craniosynostosis type 1 (CRS1) [MIM:123100] TWIST1 Q15672 VAR_034986 p.Ser188Leu Disease - Craniosynostosis type 1 (CRS1) [MIM:123100] TXK P42681 VAR_028368 p.Arg45His Polymorphism rs7658300 - TXK P42681 VAR_028369 p.Arg336Gln Polymorphism rs11724347 - TXK P42681 VAR_041869 p.Arg63Cys Polymorphism rs41265727 - TXLNB Q8N3L3 VAR_019807 p.Ala11Thr Polymorphism rs9321712 - TXLNB Q8N3L3 VAR_057729 p.Val348Met Polymorphism rs17068451 - TXLNB Q8N3L3 VAR_057730 p.Ile527Thr Polymorphism rs9495392 - TXLNB Q8N3L3 VAR_057731 p.Ala602Pro Polymorphism rs9495391 - TXLNG Q9NUQ3 VAR_019809 p.Ile246Val Polymorphism rs5969783 - TXNDC11 Q6PKC3 VAR_022767 p.Val783Leu Polymorphism rs3190321 - TXNDC15 Q96J42 VAR_036172 p.Ser248Pro Unclassified - A breast cancer sample TXNDC16 Q9P2K2 VAR_028919 p.Glu486Lys Polymorphism rs7155490 - TXNDC16 Q9P2K2 VAR_061899 p.Ser136Asn Polymorphism rs28759013 - TXNDC16 Q9P2K2 VAR_061900 p.Asn152Tyr Polymorphism rs28593180 - TXNDC2 Q86VQ3 VAR_022762 p.Glu341Lys Polymorphism rs11081510 - TXNDC2 Q86VQ3 VAR_022763 p.Gly357Asp Polymorphism rs2240906 - TXNDC2 Q86VQ3 VAR_022764 p.Ala461Thr Polymorphism rs17732496 - TXNDC2 Q86VQ3 VAR_022765 p.Arg487Thr Polymorphism rs17805544 - TXNDC2 Q86VQ3 VAR_057351 p.Ala225Pro Polymorphism rs11662946 - TXNDC2 Q86VQ3 VAR_057352 p.Ile314Leu Polymorphism rs2240909 - TXNDC8 Q6A555 VAR_057353 p.Asn60His Polymorphism rs7041938 - TXNDC9 O14530 VAR_058327 p.Glu2Gly Polymorphism rs11542366 - TXNDC9 O14530 VAR_058328 p.Leu14Gln Polymorphism rs11542369 - TXNDC9 O14530 VAR_058329 p.Gln38Arg Polymorphism rs11542371 - TXNIP Q9H3M7 VAR_048334 p.Arg177Gln Polymorphism rs6674773 - TXNRD1 Q16881 VAR_051776 p.Asp365Gly Polymorphism rs1127954 - TXNRD2 Q9NNW7 VAR_051777 p.Arg14Leu Polymorphism rs45593642 - TXNRD2 Q9NNW7 VAR_051778 p.Ala66Ser Polymorphism rs5748469 - TXNRD2 Q9NNW7 VAR_051779 p.Ser299Arg Polymorphism rs5992495 - TXNRD2 Q9NNW7 VAR_051780 p.Ile370Thr Polymorphism rs1139793 - TYK2 P29597 VAR_020286 p.Ile684Ser Polymorphism rs12720356 - TYK2 P29597 VAR_020597 p.Arg4His Polymorphism rs12720343 - TYK2 P29597 VAR_020598 p.Arg197His Polymorphism rs12720263 - TYK2 P29597 VAR_020599 p.Val362Phe Polymorphism rs2304256 - TYK2 P29597 VAR_020600 p.Gly363Ser Polymorphism rs2304255 - TYK2 P29597 VAR_037796 p.Arg4Cys Polymorphism rs35163004 - TYK2 P29597 VAR_037797 p.Ala81Val Polymorphism rs1049619 - TYK2 P29597 VAR_037798 p.Arg442Gln Polymorphism rs2304254 - TYK2 P29597 VAR_037799 p.Pro820His Polymorphism rs34046749 - TYK2 P29597 VAR_041870 p.Val386Met Polymorphism rs55956017 - TYK2 P29597 VAR_041871 p.Arg703Trp Polymorphism rs55882956 - TYK2 P29597 VAR_041872 p.His732Arg Unclassified - A colorectal adenocarcinoma sample TYK2 P29597 VAR_041873 p.Ala928Val Polymorphism rs35018800 - TYK2 P29597 VAR_041874 p.Pro1104Ala Polymorphism rs34536443 - TYK2 P29597 VAR_041875 p.Glu1163Gly Polymorphism rs55886939 - TYMP P19971 VAR_007643 p.Gly145Arg Disease - Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] TYMP P19971 VAR_007644 p.Gly153Ser Disease - Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] TYMP P19971 VAR_007645 p.Lys222Arg Disease - Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] TYMP P19971 VAR_007646 p.Glu289Ala Disease - Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] TYMP P19971 VAR_007648 p.Ser471Leu Polymorphism rs11479 - TYMP P19971 VAR_016777 p.Arg44Gln Disease - Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] TYRO3 Q06418 VAR_041876 p.Ala831Thr Polymorphism - - TYRO3 Q06418 VAR_045886 p.Pro21Leu Polymorphism rs17854578 - TYRO3 Q06418 VAR_045887 p.Ile346Asn Polymorphism rs12148316 - TYRO3 Q06418 VAR_045888 p.Gly542Ser Polymorphism rs17857363 - TYRO3 Q06418 VAR_045889 p.Ala815Val Polymorphism rs1042057 - TYRO3 Q06418 VAR_045890 p.Leu819Met Polymorphism rs17854579 - TYRO3 Q06418 VAR_045891 p.Arg824Gly Polymorphism rs17857364 - TYROBP O43914 VAR_011985 p.Tyr111His Polymorphism rs14714 - TYR P14679 VAR_007649 p.His19Gln Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007650 p.Pro21Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007651 p.Asp42Gly Disease rs28940878 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007652 p.Gly47Asp Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007653 p.Arg52Ile Unclassified - - TYR P14679 VAR_007654 p.Cys55Tyr Disease rs28940879 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007655 p.Arg77Gln Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007656 p.Arg77Trp Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007657 p.Trp80Arg Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007658 p.Pro81Leu Disease rs28940876 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007659 p.Cys89Arg Disease rs28940877 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007660 p.Gly97Arg Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007661 p.Phe176Ile Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007662 p.Ser192Tyr Polymorphism rs1042602 - TYR P14679 VAR_007663 p.Ala206Thr Disease rs28940880 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007664 p.Leu216Met Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007665 p.Arg217Gly Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007666 p.Arg217Trp Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007667 p.Arg217Gln Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007668 p.Gly253Arg Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007669 p.Val275Phe Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007670 p.Cys289Arg Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007671 p.Arg299His Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007672 p.Arg299Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007673 p.Leu312Val Unclassified - - TYR P14679 VAR_007674 p.Pro313Arg Unclassified - - TYR P14679 VAR_007675 p.Thr325Ala Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007676 p.Ser339Gly Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007677 p.Phe340Leu Unclassified - - TYR P14679 VAR_007678 p.Ala355Pro Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007679 p.Asn371Thr Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007680 p.Thr373Lys Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007681 p.Ser380Pro Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007682 p.Asn382Lys Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007683 p.Asp383Asn Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007684 p.His390Asp Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007685 p.Ser395Asn Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007686 p.Arg402Gln Polymorphism rs1126809 - TYR P14679 VAR_007687 p.Arg403Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007687 p.Arg403Ser Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007688 p.His404Pro Unclassified - - TYR P14679 VAR_007689 p.Pro406Leu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007689 p.Pro406Leu Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007690 p.Gly419Arg Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007691 p.Arg422Gln Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007691 p.Arg422Gln Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007692 p.Gly446Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007693 p.Asp448Asn Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007925 p.Pro152Ser Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007927 p.Leu288Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007928 p.Glu294Lys Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007928 p.Glu294Lys Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007929 p.Glu328Gln Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007930 p.Gly346Glu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007931 p.Ala355Glu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007932 p.Ser361Arg Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007933 p.His367Tyr Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007934 p.Met370Thr Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007935 p.Asn371Tyr Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007936 p.Val393Phe Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_007937 p.Arg402Gly Disease - Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] TYR P14679 VAR_007938 p.Pro431Leu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_009237 p.Cys289Gly Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_009238 p.Trp400Leu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_011825 p.Arg308Thr Polymorphism rs1042608 - TYR P14679 VAR_021683 p.Cys36Tyr Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021684 p.Ser44Gly Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021685 p.Ser44Arg Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021686 p.Gly47Val Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021687 p.Gln68His Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021688 p.Ser79Leu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021689 p.Gly109Arg Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021690 p.Thr155Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021691 p.Val177Phe Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021692 p.Met179Leu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021693 p.His180Asn Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021694 p.Asp199Asn Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021695 p.Ala201Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021696 p.Pro205Thr Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021697 p.Arg217Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021699 p.Trp236Leu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021700 p.Trp236Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021701 p.Arg239Trp Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021702 p.Asp240Val Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021703 p.Lys243Thr Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021704 p.His256Tyr Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021705 p.Trp272Cys Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021706 p.Glu294Gly Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021707 p.Val318Glu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021708 p.Ser329Pro Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021709 p.Met332Thr Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021710 p.Glu345Gly Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021711 p.Gln378Lys Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021712 p.Ser395Arg Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021713 p.Glu398Ala Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021714 p.Glu398Val Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021715 p.Arg402Leu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021716 p.His404Asn Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021717 p.Arg405Leu Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021718 p.Gln408His Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021719 p.Glu409Asp Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021720 p.Ala416Ser Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021721 p.Pro417His Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021722 p.Ser424Phe Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021723 p.Met426Lys Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021724 p.Val427Gly Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021725 p.Arg434Ile Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021726 p.Asn435Asp Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021727 p.Phe439Val Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_021728 p.Asp444Gly Disease - Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] TYR P14679 VAR_034576 p.Phe134Cys Polymorphism rs33955261 - TYR P14679 VAR_042665 p.Lys142Asn Polymorphism rs11545463 - TYRP1 P17643 VAR_026827 p.Arg326His Polymorphism rs16929374 - TYRP1 P17643 VAR_026828 p.Arg356Gln Disease - Albinism oculocutaneous type 3 (OCA3) [MIM:203290] TYSND1 Q2T9J0 VAR_059758 p.Thr65Ala Polymorphism rs4746970 - TYW1 Q9NV66 VAR_031288 p.Gly462Val Polymorphism rs2261015 - TYW1 Q9NV66 VAR_031289 p.His632Arg Polymorphism rs2949097 - TYW1 Q9NV66 VAR_031290 p.Asp671Asn Polymorphism rs28450001 - TYW3 Q6IPR3 VAR_031292 p.Arg110Gln Polymorphism rs11538281 - TYW3 Q6IPR3 VAR_031293 p.Met121Val Polymorphism rs1133891 - TYW5 A2RUC4 VAR_036926 p.Ser50Gly Polymorphism rs10497844 - UACA Q9BZF9 VAR_048313 p.Ile814Thr Polymorphism rs3743315 - UAP1L1 Q3KQV9 VAR_039839 p.Ala319Val Polymorphism rs7037849 - UAP1L1 Q3KQV9 VAR_039840 p.Pro373Ser Polymorphism rs1122444 - UAP1 Q16222 VAR_014935 p.Pro418His Polymorphism rs1128539 - UBA1 P22314 VAR_043500 p.Arg447His Polymorphism rs2070169 - UBA1 P22314 VAR_043501 p.Met539Ile Disease - Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830] UBA1 P22314 VAR_043502 p.Ser547Gly Disease - Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830] UBA2 Q9UBT2 VAR_017689 p.Leu307Arg Polymorphism rs1043062 - UBA3 Q8TBC4 VAR_023945 p.Lys9Arg Polymorphism rs17852113 - UBA6 A0AVT1 VAR_030594 p.Ala224Thr Polymorphism rs10010188 - UBA7 P41226 VAR_047793 p.His817Arg Polymorphism rs2230149 - UBA7 P41226 VAR_052434 p.Pro712Ser Polymorphism rs11928913 - UBAC1 Q9BSL1 VAR_027562 p.Glu374Asp Polymorphism rs11103231 - UBAP1 Q9NZ09 VAR_034577 p.Asn357Lys Polymorphism rs16935457 - UBAP2L Q14157 VAR_026829 p.Gln482His Polymorphism rs17849745 - UBAP2 Q5T6F2 VAR_029834 p.Asn606Ser Polymorphism rs307658 - UBAP2 Q5T6F2 VAR_029835 p.Ala756Val Polymorphism rs307692 - UBAP2 Q5T6F2 VAR_052677 p.Arg14Gln Polymorphism rs1785506 - UBAP2 Q5T6F2 VAR_052678 p.Pro429Leu Polymorphism rs10971809 - UBAP2 Q5T6F2 VAR_052679 p.Met762Ile Polymorphism rs16935295 - UBASH3A P57075 VAR_026971 p.Ser18Gly Polymorphism rs2277798 - UBASH3A P57075 VAR_026972 p.Leu28Phe Polymorphism rs2277800 - UBASH3A P57075 VAR_026973 p.Gln286Arg Polymorphism rs13048049 - UBASH3A P57075 VAR_052675 p.Asp466Glu Polymorphism rs17114930 - UBASH3A P57075 VAR_061921 p.Arg324Leu Polymorphism rs13048049 - UBASH3A P57075 VAR_061922 p.Arg324Gln Polymorphism rs13048049 - UBASH3B Q8TF42 VAR_052676 p.Ala68Thr Polymorphism rs12790613 - UBASH3B Q8TF42 VAR_061923 p.Asn569Ser Polymorphism rs35343548 - UBD O15205 VAR_024273 p.Leu51Ser Polymorphism rs2076484 - UBD O15205 VAR_024274 p.Ile68Thr Polymorphism rs2076485 - UBD O15205 VAR_024275 p.Ser95Pro Polymorphism rs2076486 - UBD O15205 VAR_024276 p.Cys162Phe Polymorphism rs7757931 - UBD O15205 VAR_025401 p.Ala99Gly Polymorphism rs2076487 - UBD O15205 VAR_025402 p.Cys160Ser Polymorphism rs8337 - UBD O15205 VAR_052693 p.Glu120Lys Polymorphism rs17184290 - UBE2C O00762 VAR_007694 p.Gly25Asp Polymorphism - - UBE2E1 P51965 VAR_061868 p.Glu25Asp Polymorphism rs36060625 - UBE2E3 Q969T4 VAR_023392 p.Trp201Arg Polymorphism rs2368192 - UBE2J1 Q9Y385 VAR_019689 p.Gly55Val Polymorphism rs8099 - UBE2J1 Q9Y385 VAR_019690 p.Leu229Val Polymorphism rs10502 - UBE2O Q9C0C9 VAR_031184 p.Gly1207Ser Polymorphism rs3803739 - UBE2U Q5VVX9 VAR_057323 p.Ile90Thr Polymorphism rs7532933 - UBE2V2 Q15819 VAR_052431 p.Glu36Gly Polymorphism rs11557776 - UBE2V2 Q15819 VAR_052432 p.Asp40His Polymorphism rs14890 - UBE2V2 Q15819 VAR_052433 p.Pro78Gln Polymorphism rs11557786 - UBE3A Q05086 VAR_007852 p.Cys44Tyr Polymorphism - - UBE3A Q05086 VAR_007853 p.Ala201Thr Polymorphism - - UBE3A Q05086 VAR_008142 p.Arg62His Polymorphism - - UBE3A Q05086 VAR_008143 p.Ser372Pro Polymorphism - - UBE3A Q05086 VAR_047516 p.Val290Gly Polymorphism rs1059383 - UBE3B Q7Z3V4 VAR_031302 p.Arg346Gln Polymorphism rs7298565 - UBE3D Q7Z6J8 VAR_037152 p.Thr174Pro Polymorphism rs12528542 - UBE3D Q7Z6J8 VAR_037153 p.Val379Met Polymorphism rs7739323 - UBE4B O95155 VAR_052437 p.Val605Ile Polymorphism rs17034499 - UBIAD1 Q9Y5Z9 VAR_043713 p.Ser75Phe Polymorphism - - UBIAD1 Q9Y5Z9 VAR_043714 p.Asn102Ser Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043715 p.Asp112Gly Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043716 p.Asp118Gly Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043717 p.Arg119Gly Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043718 p.Leu121Phe Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043719 p.Ser171Pro Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043720 p.Thr175Ile Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043721 p.Gly177Arg Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043722 p.Gly186Arg Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043723 p.Asn232Ser Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_043724 p.Asp236Glu Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064337 p.Ala97Thr Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064338 p.Gly98Ser Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064339 p.Asp112Asn Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064340 p.Val122Glu Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064341 p.Val122Gly Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064342 p.Leu188His Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBIAD1 Q9Y5Z9 VAR_064343 p.Asp240Asn Disease - Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] UBN1 Q9NPG3 VAR_051465 p.Tyr435Cys Polymorphism rs35103368 - UBN2 Q6ZU65 VAR_033347 p.Pro1308Ala Polymorphism rs17160850 - UBOX5 O94941 VAR_046402 p.Thr96Met Polymorphism rs999409 - UBOX5 O94941 VAR_046403 p.Leu479Pro Polymorphism rs34205880 - UBP1 Q9NZI7 VAR_025730 p.Thr212Ala Polymorphism rs17854430 - UBP1 Q9NZI7 VAR_049294 p.Asn109Ser Polymorphism rs3736563 - UBQLN2 Q9UHD9 VAR_052680 p.Leu235His Polymorphism rs17002693 - UBQLN3 Q9H347 VAR_020363 p.Arg624Gln Polymorphism rs2227271 - UBQLN3 Q9H347 VAR_034578 p.Met546Thr Polymorphism rs2234455 - UBQLN3 Q9H347 VAR_052681 p.Cys255Arg Polymorphism rs2234446 - UBQLN3 Q9H347 VAR_052682 p.Asn285Asp Polymorphism rs2234449 - UBQLN3 Q9H347 VAR_052683 p.Thr287Ala Polymorphism rs2234450 - UBQLN3 Q9H347 VAR_052684 p.Thr290Ser Polymorphism rs2234451 - UBQLN4 Q9NRR5 VAR_052685 p.Ile495Met Polymorphism rs2297792 - UBQLNL Q8IYU4 VAR_036652 p.Asp92Val Polymorphism rs7933557 - UBQLNL Q8IYU4 VAR_036653 p.Gln143Lys Polymorphism rs3802978 - UBQLNL Q8IYU4 VAR_036654 p.Cys171Arg Polymorphism rs2047456 - UBQLNL Q8IYU4 VAR_036655 p.Gly259Asp Polymorphism rs16932225 - UBQLNL Q8IYU4 VAR_036656 p.Tyr274His Polymorphism rs2017434 - UBQLNL Q8IYU4 VAR_036657 p.Ala275Val Polymorphism rs2017433 - UBQLNL Q8IYU4 VAR_036658 p.Trp379Gly Polymorphism rs393044 - UBQLNL Q8IYU4 VAR_036659 p.Gln455Glu Polymorphism rs12223282 - UBR1 Q8IWV7 VAR_024741 p.His136Arg Disease - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_024742 p.Gly1279Ser Disease - Johanson-Blizzard syndrome (JBS) [MIM:243800] UBR1 Q8IWV7 VAR_034467 p.Lys596Met Polymorphism rs34568456 - UBR1 Q8IWV7 VAR_052116 p.Ile899Val Polymorphism rs35069201 - UBR1 Q8IWV7 VAR_061822 p.Thr1548Ala Polymorphism rs3917223 - UBR2 Q8IWV8 VAR_023283 p.Ala1095Thr Polymorphism rs6917033 - UBR2 Q8IWV8 VAR_052117 p.Glu172Asp Polymorphism rs6905054 - UBR2 Q8IWV8 VAR_059816 p.Ala1095Pro Polymorphism rs6917033 - UBR2 Q8IWV8 VAR_059817 p.Ala1095Ser Polymorphism rs6917033 - UBR4 Q5T4S7 VAR_032193 p.Thr1107Ala Polymorphism rs16862578 - UBR4 Q5T4S7 VAR_032194 p.Met4867Leu Polymorphism rs12584 - UBR4 Q5T4S7 VAR_032195 p.Gly4924Arg Unclassified - A melanoma patient UBR4 Q5T4S7 VAR_032196 p.Val5084Met Polymorphism rs2274010 - UBR4 Q5T4S7 VAR_035540 p.Arg1394His Unclassified - A breast cancer sample UBR5 O95071 VAR_051466 p.Ser2150Arg Polymorphism rs1062822 - UBTD2 Q8WUN7 VAR_052694 p.Met129Ile Polymorphism rs17074452 - UBXN11 Q5T124 VAR_031860 p.Glu165Gly Polymorphism rs6695966 - UBXN11 Q5T124 VAR_031861 p.Leu312Arg Polymorphism rs4332350 - UBXN11 Q5T124 VAR_031862 p.Ala474Val Polymorphism - - UBXN11 Q5T124 VAR_052689 p.Pro501Ser Polymorphism rs17838088 - UBXN11 Q5T124 VAR_052690 p.Pro509Ser Polymorphism rs17838088 - UBXN1 Q04323 VAR_057370 p.Leu56Phe Polymorphism rs11543359 - UBXN4 Q92575 VAR_052686 p.Ser458Arg Polymorphism rs2304602 - UBXN6 Q9BZV1 VAR_047821 p.Pro425Leu Polymorphism rs35436704 - UBXN6 Q9BZV1 VAR_061924 p.Ala31Thr Polymorphism rs1127888 - UBXN8 O00124 VAR_052687 p.Val18Met Polymorphism rs3174043 - UBXN8 O00124 VAR_052688 p.Ile51Thr Polymorphism rs2911690 - UCHL1 P09936 VAR_015677 p.Ser18Tyr Polymorphism rs5030732 - UCHL1 P09936 VAR_015678 p.Ile93Met Disease - Parkinson disease type 5 (PARK5) [MIM:613643] UCHL5 Q9Y5K5 VAR_011613 p.Ile197Phe Polymorphism - - UCN3 Q969E3 VAR_060410 p.Glu77Lys Polymorphism rs12768730 - UCN3 Q969E3 VAR_060411 p.Arg91Gly Polymorphism rs10904481 - UCP1 P25874 VAR_022840 p.Ala64Thr Polymorphism rs45539933 - UCP1 P25874 VAR_022841 p.Met229Leu Polymorphism rs2270565 - UCP2 P55851 VAR_016129 p.Ala55Val Polymorphism rs660339 - UCP2 P55851 VAR_023998 p.Arg76Gln Polymorphism rs45541732 - UCP2 P55851 VAR_023999 p.Arg154Gln Polymorphism rs45486692 - UCP2 P55851 VAR_024000 p.Ala268Gly Polymorphism rs45490393 - UCP2 P55851 VAR_024001 p.Ser282Cys Polymorphism rs45596837 - UCP3 P55916 VAR_004407 p.Arg70Trp Polymorphism rs17848368 - UCP3 P55916 VAR_004408 p.Val102Ile Disease rs2229707 Obesity (OBESITY) [MIM:601665] UCP3 P55916 VAR_050136 p.Val9Met Polymorphism rs8179180 - UFC1 Q9Y3C8 VAR_028312 p.Tyr90Cys Polymorphism rs17849932 - UFD1L Q92890 VAR_052436 p.Pro130Ala Polymorphism rs17744624 - UFL1 O94874 VAR_034037 p.Val137Phe Polymorphism rs28372909 - UFSP1 Q6NVU6 VAR_031125 p.Leu47Val Polymorphism rs12666989 - UFSP2 Q9NUQ7 VAR_031126 p.Asn83Thr Polymorphism rs17850669 - UGGT2 Q9NYU1 VAR_030006 p.Ala323Thr Polymorphism rs12863903 - UGGT2 Q9NYU1 VAR_030007 p.Ser328Ala Polymorphism rs816142 - UGGT2 Q9NYU1 VAR_030008 p.Met994Leu Polymorphism rs12876018 - UGGT2 Q9NYU1 VAR_055849 p.Ala821Thr Polymorphism rs33949518 - UGGT2 Q9NYU1 VAR_055850 p.Phe924Ile Polymorphism rs35780499 - UGGT2 Q9NYU1 VAR_055851 p.Phe1274Leu Polymorphism rs9525072 - UGGT2 Q9NYU1 VAR_061196 p.Lys865Arg Polymorphism rs35060832 - UGGT2 Q9NYU1 VAR_061197 p.Tyr1285Phe Polymorphism rs35123499 - UGP2 Q16851 VAR_033042 p.Met268Ile Polymorphism rs1130982 - UGT1A10 Q9HAW8 VAR_018354 p.Met59Ile Polymorphism rs56935833 - UGT1A10 Q9HAW8 VAR_018355 p.Thr202Ile Polymorphism rs58704432 - UGT1A10 Q9HAW8 VAR_052464 p.Glu139Lys Polymorphism rs10187694 - UGT1A10 Q9HAW8 VAR_052465 p.Leu244Ile Polymorphism rs28969685 - UGT1A1 P22309 VAR_007697 p.Cys177Arg Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007698 p.Arg209Trp Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_007699 p.Gly276Arg Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007700 p.Ala292Val Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007701 p.Gly308Glu Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007702 p.Gln331Arg Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_007703 p.Gln357Arg Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007704 p.Ala368Thr Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007705 p.Ser375Phe Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007706 p.Ser381Arg Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007707 p.Ala401Pro Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007708 p.Lys428Glu Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_007709 p.Tyr486Asp Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_007709 p.Tyr486Asp Disease - Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_007709 p.Tyr486Asp Disease - Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900] UGT1A1 P22309 VAR_009504 p.Gly71Arg Disease rs4148323 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_009504 p.Gly71Arg Disease rs4148323 Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_009504 p.Gly71Arg Disease rs4148323 Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900] UGT1A1 P22309 VAR_009505 p.Pro229Gln Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_009505 p.Pro229Gln Disease - Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_012283 p.Arg367Gly Disease rs55750087 Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_019410 p.Leu15Arg Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_019411 p.Leu175Gln Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_019412 p.Asn400Asp Disease rs28934877 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_025355 p.Ala511Pro Polymorphism rs1042709 - UGT1A1 P22309 VAR_026134 p.Pro34Gln Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026135 p.His39Asp Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026136 p.Phe83Leu Disease rs56059937 Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_026137 p.Val225Gly Disease rs35003977 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026138 p.Glu291Val Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026139 p.Ile294Thr Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026139 p.Ile294Thr Disease - Gilbert syndrome (GILBS) [MIM:143500] UGT1A1 P22309 VAR_026140 p.Arg336Leu Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026140 p.Arg336Leu Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026141 p.Arg336Gln Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026142 p.Arg336Trp Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026143 p.Trp354Arg Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026144 p.His376Arg Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026144 p.His376Arg Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026145 p.Gly377Val Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026145 p.Gly377Val Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026146 p.Pro387Ser Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026147 p.Gly395Val Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026148 p.Arg403Cys Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026149 p.Trp461Arg Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_026149 p.Trp461Arg Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_026150 p.Ala478Asp Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064956 p.Ser191Phe Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064957 p.Asn279Tyr Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064958 p.Ile370Val Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064959 p.Pro387His Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A1 P22309 VAR_064960 p.Lys402Thr Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A1 P22309 VAR_064961 p.Leu443Pro Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A3 P35503 VAR_052445 p.Gln6Arg Polymorphism rs28898617 - UGT1A3 P35503 VAR_052446 p.Trp11Arg Polymorphism rs3821242 - UGT1A3 P35503 VAR_052447 p.Arg45Trp Polymorphism rs45625338 - UGT1A3 P35503 VAR_052448 p.Val47Ala Polymorphism rs6431625 - UGT1A3 P35503 VAR_052449 p.Arg49Trp Polymorphism rs45595237 - UGT1A3 P35503 VAR_052450 p.Thr78Ile Polymorphism rs28898618 - UGT1A3 P35503 VAR_052451 p.Met114Ile Polymorphism rs28898619 - UGT1A3 P35503 VAR_052452 p.Thr144Ile Polymorphism rs13406898 - UGT1A3 P35503 VAR_052453 p.Met270Val Polymorphism rs45449995 - UGT1A3 P35503 VAR_058583 p.Ala158Val Polymorphism - - UGT1A4 P22310 VAR_007710 p.Gln332Arg Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A4 P22310 VAR_007711 p.Ser376Phe Disease - Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] UGT1A4 P22310 VAR_009506 p.Leu132Pro Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A4 P22310 VAR_009507 p.Tyr487Asp Disease - Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] UGT1A4 P22310 VAR_024684 p.Pro24Thr Polymorphism rs6755571 - UGT1A4 P22310 VAR_052454 p.Ile176Phe Polymorphism rs45540231 - UGT1A4 P22310 VAR_058584 p.Leu48Val Polymorphism rs2011425 - UGT1A4 P22310 VAR_059844 p.Arg11Trp Polymorphism rs3892221 - UGT1A4 P22310 VAR_061870 p.His68Tyr Polymorphism rs45621441 - UGT1A5 P35504 VAR_052455 p.Leu48Ser Polymorphism rs3755323 - UGT1A5 P35504 VAR_052456 p.Leu63Pro Polymorphism rs3755321 - UGT1A5 P35504 VAR_052457 p.Thr144Ser Polymorphism rs28946885 - UGT1A5 P35504 VAR_052458 p.Ala158Gly Polymorphism rs12475068 - UGT1A5 P35504 VAR_052459 p.His225Tyr Polymorphism rs17862867 - UGT1A5 P35504 VAR_052460 p.Val249Leu Polymorphism rs17862868 - UGT1A5 P35504 VAR_052461 p.Gly259Arg Polymorphism rs3892170 - UGT1A5 P35504 VAR_059845 p.Asp50Glu Polymorphism rs3755322 - UGT1A5 P35504 VAR_059846 p.His142Asn Polymorphism rs3755320 - UGT1A6 P19224 VAR_014784 p.Thr181Ala Polymorphism rs2070959 - UGT1A6 P19224 VAR_015559 p.Arg184Ser Polymorphism rs1105879 - UGT1A6 P19224 VAR_024685 p.Ser7Ala Polymorphism rs6759892 - UGT1A6 P19224 VAR_026628 p.Ser70Tyr Polymorphism rs1042708 - UGT1A6 P19224 VAR_026629 p.Ala510Pro Polymorphism rs1042709 - UGT1A7 Q9HAW7 VAR_015556 p.Asn129Lys Polymorphism rs17868323 - UGT1A7 Q9HAW7 VAR_015557 p.Arg131Lys Polymorphism - - UGT1A7 Q9HAW7 VAR_015558 p.Trp208Arg Polymorphism rs11692021 - UGT1A7 Q9HAW7 VAR_052462 p.Arg131Gln Polymorphism rs17868324 - UGT1A8 Q9HAW9 VAR_015543 p.Lys132Arg Polymorphism - - UGT1A8 Q9HAW9 VAR_015544 p.Gly154Ala Polymorphism - - UGT1A8 Q9HAW9 VAR_015545 p.Ala173Gly Polymorphism rs1042597 - UGT1A8 Q9HAW9 VAR_015546 p.Thr202Ala Polymorphism - - UGT1A8 Q9HAW9 VAR_015547 p.Met212Leu Polymorphism - - UGT1A8 Q9HAW9 VAR_015549 p.Cys277Tyr Polymorphism rs17863762 - UGT1A8 Q9HAW9 VAR_052463 p.His53Asn Polymorphism rs45504099 - UGT1A8 Q9HAW9 VAR_058585 p.Ala144Val Polymorphism rs17862841 - UGT1A8 Q9HAW9 VAR_058586 p.Ala231Thr Polymorphism - - UGT1A8 Q9HAW9 VAR_061871 p.Ala173Val Polymorphism rs1042597 - UGT1A9 O60656 VAR_036035 p.Ser442Ile Unclassified - A breast cancer sample UGT1A9 O60656 VAR_058587 p.Met33Thr Polymorphism - - UGT2A1 Q9Y4X1 VAR_024686 p.Gly308Arg Polymorphism rs4148301 - UGT2A1 Q9Y4X1 VAR_057326 p.Val391Ile Polymorphism rs4148304 - UGT2A1 Q9Y4X1 VAR_063113 p.Arg75Lys Polymorphism rs1347046 - UGT2B15 P54855 VAR_007713 p.Tyr85Asp Polymorphism rs1902023 - UGT2B15 P54855 VAR_018348 p.Lys523Thr Polymorphism rs4148269 - UGT2B28 Q9BY64 VAR_059847 p.Leu365His Polymorphism rs4235127 - UGT2B28 Q9BY64 VAR_060661 p.Ile447Arg Polymorphism rs6843900 - UGT2B28 Q9BY64 VAR_060662 p.His458Asp Polymorphism rs6828191 - UGT2B4 P06133 VAR_007712 p.Asp458Glu Polymorphism rs13119049 - UGT2B4 P06133 VAR_011328 p.Phe109Leu Polymorphism - - UGT2B4 P06133 VAR_011329 p.Phe396Leu Polymorphism - - UGT2B4 P06133 VAR_060713 p.Lys40Asn Polymorphism - - UGT2B4 P06133 VAR_060714 p.Pro78Thr Polymorphism - - UGT2B4 P06133 VAR_060715 p.Ser80Pro Polymorphism - - UGT2B4 P06133 VAR_060716 p.Val277Ile Polymorphism - - UGT2B4 P06133 VAR_060717 p.Cys511Arg Polymorphism - - UGT2B7 P16662 VAR_012342 p.His268Tyr Polymorphism rs7439366 - UGT2B7 P16662 VAR_057327 p.Ala71Ser Polymorphism rs12233719 - UGT2B7 P16662 VAR_057328 p.Asn378Ser Polymorphism rs35590824 - UGT3A1 Q6NUS8 VAR_034791 p.Cys121Gly Polymorphism rs3756669 - UGT3A2 Q3SY77 VAR_036036 p.Arg515His Unclassified - A colorectal cancer sample UGT3A2 Q3SY77 VAR_057329 p.Tyr74Asn Polymorphism rs2197514 - UGT8 Q16880 VAR_052466 p.Pro226Leu Polymorphism rs4148254 - UGT8 Q16880 VAR_052467 p.Ile368Met Polymorphism rs11098261 - UHMK1 Q8TAS1 VAR_041272 p.Leu159Val Polymorphism rs34466082 - UHMK1 Q8TAS1 VAR_041273 p.Tyr197Asp Polymorphism rs56201055 - UHRF1BP1L A0JNW5 VAR_051467 p.Ser1147Leu Polymorphism rs7296162 - UHRF1BP1L A0JNW5 VAR_051468 p.Ile1175Val Polymorphism rs17029945 - UHRF1BP1L A0JNW5 VAR_061719 p.Met1111Leu Polymorphism rs58214704 - UHRF1BP1 Q6BDS2 VAR_051474 p.Lys404Asn Polymorphism rs16894945 - UHRF1BP1 Q6BDS2 VAR_051475 p.Gln454Arg Polymorphism rs11755393 - UHRF1BP1 Q6BDS2 VAR_051476 p.Lys854Glu Polymorphism rs3734265 - UHRF1BP1 Q6BDS2 VAR_051477 p.Gln984His Polymorphism rs9469913 - UHRF1BP1 Q6BDS2 VAR_051478 p.Met1098Thr Polymorphism rs13205210 - UHRF1 Q96T88 VAR_022554 p.Asp240His Polymorphism rs17886098 - UHRF1 Q96T88 VAR_022555 p.Glu379Lys Polymorphism rs17885791 - UHRF1 Q96T88 VAR_022556 p.Ala638Thr Polymorphism rs17883331 - UHRF1 Q96T88 VAR_022557 p.Thr642Met Polymorphism rs17884843 - UHRF1 Q96T88 VAR_022558 p.Leu713Phe Polymorphism rs17883563 - UHRF2 Q96PU4 VAR_035961 p.Ile87Asn Unclassified - A colorectal cancer sample UIMC1 Q96RL1 VAR_051469 p.Arg15Trp Polymorphism rs13167812 - UIMC1 Q96RL1 VAR_051470 p.Pro435Leu Polymorphism rs3733876 - UIMC1 Q96RL1 VAR_051471 p.Cys511Arg Polymorphism rs13360277 - UIMC1 Q96RL1 VAR_051472 p.Gly596Glu Polymorphism rs10475633 - UIMC1 Q96RL1 VAR_055328 p.Met353Thr Polymorphism - - ULBP1 Q9BZM6 VAR_050407 p.Leu101Ile Polymorphism rs6903584 - ULK1 O75385 VAR_041274 p.Val290Met Unclassified - An ovarian mucinous carcinoma sample ULK1 O75385 VAR_041275 p.Ser298Leu Polymorphism rs56364352 - ULK1 O75385 VAR_041276 p.Pro478Leu Polymorphism rs12827141 - ULK1 O75385 VAR_041277 p.Thr503Met Polymorphism rs55824543 - ULK1 O75385 VAR_041278 p.Ser665Leu Polymorphism rs55815560 - ULK1 O75385 VAR_041279 p.Pro714Leu Polymorphism rs11546871 - ULK1 O75385 VAR_041280 p.Ser784Cys Unclassified - A lung adenocarcinoma sample ULK1 O75385 VAR_054892 p.Thr816Ala Polymorphism rs11609348 - ULK2 Q8IYT8 VAR_041281 p.Pro242Ser Polymorphism rs34670978 - ULK2 Q8IYT8 VAR_041282 p.Gly627Glu Unclassified - A metastatic melanoma sample ULK2 Q8IYT8 VAR_041283 p.Ala662Val Unclassified - A metastatic melanoma sample ULK2 Q8IYT8 VAR_041284 p.Gly752Arg Polymorphism rs55730189 - ULK2 Q8IYT8 VAR_041285 p.Asp842Glu Polymorphism rs35107651 - ULK2 Q8IYT8 VAR_055287 p.Val370Met Polymorphism rs150122 - ULK2 Q8IYT8 VAR_055288 p.Thr533Ile Polymorphism rs4462660 - ULK3 Q6PHR2 VAR_057113 p.Arg101His Polymorphism rs34945944 - ULK3 Q6PHR2 VAR_059771 p.Lys445Arg Polymorphism rs12898397 - ULK4 Q96C45 VAR_029005 p.Ala542Thr Polymorphism rs1052501 - ULK4 Q96C45 VAR_029006 p.Lys569Arg Polymorphism rs3774372 - ULK4 Q96C45 VAR_029007 p.Leu603Ser Polymorphism rs17063572 - ULK4 Q96C45 VAR_029008 p.Ser640Ala Polymorphism rs4973986 - ULK4 Q96C45 VAR_029009 p.Ala715Thr Polymorphism rs17215589 - ULK4 Q96C45 VAR_041286 p.Val18Ala Polymorphism rs34538622 - ULK4 Q96C45 VAR_041287 p.Lys39Arg Polymorphism rs2272007 - ULK4 Q96C45 VAR_041288 p.Asn139Lys Polymorphism rs35833603 - ULK4 Q96C45 VAR_041289 p.Ser223Asn Polymorphism rs55840267 - ULK4 Q96C45 VAR_041290 p.Ser348Gly Polymorphism rs35263917 - ULK4 Q96C45 VAR_041291 p.Thr415Met Polymorphism - - ULK4 Q96C45 VAR_041292 p.Ser417Pro Polymorphism - - ULK4 Q96C45 VAR_051679 p.Ile224Val Polymorphism rs1716975 - ULK4 Q96C45 VAR_051680 p.Ala1261Val Polymorphism rs6769117 - ULK4 Q96C45 VAR_059772 p.Ser1260Asn Polymorphism rs12488691 - UMODL1 Q5DID0 VAR_025668 p.Val173Leu Polymorphism - - UMODL1 Q5DID0 VAR_025669 p.Asn274Asp Polymorphism rs17114359 - UMODL1 Q5DID0 VAR_025670 p.Asn274His Polymorphism - - UMODL1 Q5DID0 VAR_025671 p.Arg447Gln Polymorphism - - UMODL1 Q5DID0 VAR_025672 p.Met559Thr Polymorphism rs220126 - UMODL1 Q5DID0 VAR_025673 p.Ile639Thr Polymorphism rs220129 - UMODL1 Q5DID0 VAR_025674 p.Thr698Pro Polymorphism rs220130 - UMODL1 Q5DID0 VAR_025675 p.Val850Ile Polymorphism rs220146 - UMODL1 Q5DID0 VAR_025676 p.Ser1027Asn Polymorphism - - UMODL1 Q5DID0 VAR_025677 p.Gly1068Ser Polymorphism - - UMODL1 Q5DID0 VAR_025678 p.Glu1115Lys Polymorphism - - UMODL1 Q5DID0 VAR_025679 p.Asp1208Asn Polymorphism rs220159 - UMODL1 Q5DID0 VAR_025680 p.Asn1309His Polymorphism rs3819142 - UMOD P07911 VAR_017666 p.Gly103Cys Disease rs28934584 Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860] UMOD P07911 VAR_017667 p.Cys148Tyr Disease rs28934582 Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] UMOD P07911 VAR_017668 p.Cys217Arg Disease rs28934583 Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] UMOD P07911 VAR_025950 p.Cys77Tyr Disease - Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] UMOD P07911 VAR_025952 p.Cys126Arg Disease - Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] UMOD P07911 VAR_025953 p.Asn128Ser Disease - Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] UMOD P07911 VAR_025954 p.Cys148Trp Unclassified - - UMOD P07911 VAR_025955 p.Cys150Ser Unclassified - - UMOD P07911 VAR_025956 p.Cys223Tyr Disease - Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] UMOD P07911 VAR_025957 p.Thr225Lys Disease - Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860] UMOD P07911 VAR_025958 p.Cys248Trp Disease - Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860] UMOD P07911 VAR_025959 p.Cys255Tyr Disease - Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] UMOD P07911 VAR_025960 p.Cys300Gly Disease - Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] UMOD P07911 VAR_025961 p.Cys315Arg Disease - Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886] UMOD P07911 VAR_025962 p.Cys317Tyr Unclassified - - UMOD P07911 VAR_061993 p.Val458Leu Polymorphism rs55772253 - UMPS P11172 VAR_006807 p.Arg96Gly Disease - Orotic aciduria type 1 (ORAC1) [MIM:258900] UMPS P11172 VAR_006808 p.Val109Gly Disease - Orotic aciduria type 1 (ORAC1) [MIM:258900] UMPS P11172 VAR_006809 p.Gly213Ala Polymorphism rs1801019 - UMPS P11172 VAR_006810 p.Gly429Arg Disease - Orotic aciduria type 1 (ORAC1) [MIM:258900] UMPS P11172 VAR_020614 p.Ser30Gly Polymorphism rs17843776 - UMPS P11172 VAR_020615 p.Ile446Val Polymorphism rs3772809 - UNC13A Q9UPW8 VAR_061872 p.Ala359Thr Polymorphism rs34752754 - UNC13B O14795 VAR_036615 p.Pro209Ser Unclassified - A colorectal cancer sample UNC13B O14795 VAR_037273 p.Asp238Glu Polymorphism rs35199210 - UNC13B O14795 VAR_037274 p.Glu1232Asp Polymorphism rs12339582 - UNC13C Q8NB66 VAR_052468 p.Ser942Leu Polymorphism rs17731958 - UNC13C Q8NB66 VAR_061873 p.Gly609Ser Polymorphism rs12437941 - UNC13D Q70J99 VAR_029771 p.His858Gln Polymorphism rs17496835 - UNC13D Q70J99 VAR_029772 p.Lys867Glu Polymorphism rs1135688 - UNC13D Q70J99 VAR_052469 p.Ala59Thr Polymorphism rs9904366 - UNC45A Q9H3U1 VAR_052629 p.Thr796Met Polymorphism rs8041035 - UNC45B Q8IWX7 VAR_027506 p.Val60Ile Polymorphism rs16970659 - UNC45B Q8IWX7 VAR_027507 p.Ile852Asn Polymorphism rs11654824 - UNC45B Q8IWX7 VAR_035870 p.Asp496His Unclassified - A breast cancer sample UNC45B Q8IWX7 VAR_052630 p.Ala199Val Polymorphism rs35749208 - UNC45B Q8IWX7 VAR_052631 p.Lys377Arg Polymorphism rs41389545 - UNC5B Q8IZJ1 VAR_019730 p.Ala516Thr Polymorphism rs10509332 - UNC5B Q8IZJ1 VAR_052472 p.Ile242Val Polymorphism rs34957097 - UNC5CL Q8IV45 VAR_036979 p.Arg432Gly Polymorphism rs742493 - UNC5C O95185 VAR_019731 p.Gly37Val Polymorphism rs2306715 - UNC5C O95185 VAR_019732 p.Met721Thr Polymorphism rs2289043 - UNC5C O95185 VAR_055327 p.Ala841Thr Polymorphism rs34585936 - UNC5D Q6UXZ4 VAR_059848 p.Arg728Lys Polymorphism rs35487923 - UNC79 Q9P2D8 VAR_038260 p.Val1597Ala Polymorphism rs28670114 - UNC79 Q9P2D8 VAR_038261 p.Val1670Ile Polymorphism rs4905081 - UNC79 Q9P2D8 VAR_038262 p.Lys2183Arg Polymorphism rs2296687 - UNC79 Q9P2D8 VAR_038263 p.Gly2444Ser Polymorphism rs7359096 - UNC80 Q8N2C7 VAR_033656 p.Arg131Trp Polymorphism rs35822936 - UNC80 Q8N2C7 VAR_060196 p.Asp1505Gly Polymorphism rs4673492 - UNC93A Q86WB7 VAR_022650 p.Val292Ile Polymorphism rs2072767 - UNC93A Q86WB7 VAR_022651 p.Tyr387His Polymorphism rs663227 - UNC93A Q86WB7 VAR_022652 p.Met403Thr Polymorphism rs663606 - UNC93A Q86WB7 VAR_022653 p.Val409Ile Polymorphism rs7739897 - UNC93A Q86WB7 VAR_022654 p.Val445Ala Polymorphism - - UNC93A Q86WB7 VAR_052473 p.Arg6Lys Polymorphism rs36110805 - UNC93A Q86WB7 VAR_052474 p.Lys128Gln Polymorphism rs35313366 - UNC93A Q86WB7 VAR_052475 p.Val295Met Polymorphism rs4708771 - UNC93A Q86WB7 VAR_059849 p.Met403Ile Polymorphism rs9459921 - UNC93A Q86WB7 VAR_061874 p.Val308Met Polymorphism rs35854179 - UNC93B1 Q9H1C4 VAR_059850 p.Tyr436Cys Polymorphism rs3175471 - UNG P13051 VAR_017094 p.Phe251Ser Disease - Immunodeficiency with hyper-IgM type 5 (HIGM5) [MIM:608106] UNG P13051 VAR_052697 p.Gln4Arg Polymorphism rs7488798 - UPB1 Q9UBR1 VAR_026752 p.Ala85Glu Disease rs34035085 Beta-ureidopropionase deficiency (BUPD) [MIM:613161] UPB1 Q9UBR1 VAR_050280 p.Ala340Asp Polymorphism rs34110964 - UPF1 Q92900 VAR_056207 p.Ala69Ser Polymorphism rs17339451 - UPF2 Q9HAU5 VAR_024345 p.Asn496Ser Polymorphism rs7079388 - UPF3A Q9H1J1 VAR_062143 p.Arg64Lys Polymorphism rs3752105 - UPF3B Q9BZI7 VAR_037666 p.Tyr160Asp Disease - Mental retardation syndromic X-linked type 14 (MRXS14) [MIM:300676] UPK1A O00322 VAR_020094 p.Met257Thr Polymorphism rs2285421 - UPK1A O00322 VAR_052332 p.Ser33Ala Polymorphism rs2267586 - UPK1B O75841 VAR_028780 p.Gln113Arg Polymorphism rs9840317 - UPK2 O00526 VAR_051473 p.Ala47Ser Polymorphism rs3886020 - UPK2 O00526 VAR_062246 p.Thr160Met Polymorphism rs45530531 - UPK3A O75631 VAR_020158 p.Ala154Pro Polymorphism rs1057353 - UPK3A O75631 VAR_044399 p.Gln91Leu Polymorphism rs6006979 - UPK3A O75631 VAR_044400 p.Gly202Asp Disease - Renal adysplasia (RADYS) [MIM:191830] UPK3A O75631 VAR_044401 p.Pro273Leu Disease - Renal adysplasia (RADYS) [MIM:191830] UPK3B Q9BT76 VAR_034561 p.Gln293Arg Polymorphism rs1636632 - UPK3B Q9BT76 VAR_047805 p.Trp319Arg Polymorphism rs1799126 - UPP2 O95045 VAR_024431 p.Arg10Ser Polymorphism rs6710480 - UPP2 O95045 VAR_034580 p.Met78Leu Polymorphism rs7561584 - UQCC Q9NVA1 VAR_028047 p.Arg51Gln Polymorphism rs4911494 - UQCC Q9NVA1 VAR_028048 p.Pro85Leu Polymorphism rs6088810 - UQCC Q9NVA1 VAR_036612 p.Trp44Ser Unclassified - A breast cancer sample UQCR10 Q9UDW1 VAR_052444 p.Ile47Val Polymorphism rs14115 - UQCRB P14927 VAR_052443 p.Leu30Pro Polymorphism rs35895613 - UQCRC1 P31930 VAR_013629 p.Asn301Ser Polymorphism - - UQCRC1 P31930 VAR_034581 p.Asp215His Polymorphism rs17080284 - UQCRC2 P22695 VAR_029336 p.Arg148Ser Polymorphism rs2228473 - UQCRC2 P22695 VAR_034582 p.Arg183Gln Polymorphism rs4850 - UQCRC2 P22695 VAR_034583 p.Arg254His Polymorphism rs11863893 - UQCRC2 P22695 VAR_036479 p.Phe208Tyr Unclassified - A colorectal cancer sample UQCRFS1 P47985 VAR_051863 p.Ser6Ala Polymorphism rs8100724 - UQCRH P07919 VAR_034579 p.Glu51Gln Polymorphism rs34813470 - UQCRQ O14949 VAR_045911 p.Ser45Phe Disease rs11544803 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] URB1 O60287 VAR_059705 p.Pro2071Arg Polymorphism rs762225 - URB1 O60287 VAR_060586 p.Val1791Leu Polymorphism rs3761342 - URB2 Q14146 VAR_034031 p.Val778Gly Polymorphism rs3811473 - URB2 Q14146 VAR_046975 p.Val1400Met Polymorphism rs12142450 - URGCP Q8TCY9 VAR_043668 p.Met779Leu Polymorphism rs2232108 - URGCP Q8TCY9 VAR_051479 p.Thr697Ala Polymorphism rs2232106 - URGCP Q8TCY9 VAR_051480 p.Leu756Phe Polymorphism rs2232107 - URI1 O94763 VAR_056978 p.Leu22Pro Polymorphism rs189187 - UROC1 Q96N76 VAR_034000 p.Arg188Trp Polymorphism rs34488036 - UROC1 Q96N76 VAR_034001 p.Ser311Thr Polymorphism rs35062810 - UROC1 Q96N76 VAR_042732 p.Arg429Cys Polymorphism rs9871671 - UROC1 Q96N76 VAR_060221 p.Arg450Cys Disease - Urocanase deficiency (UROD) [MIM:276880] UROC1 Q96N76 VAR_062649 p.Leu70Pro Disease - Urocanase deficiency (UROD) [MIM:276880] UROD P06132 VAR_007714 p.Glu167Lys Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007714 p.Glu167Lys Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_007715 p.Gly281Glu Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_007716 p.Gly281Val Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007717 p.Arg292Gly Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_007910 p.Ala80Gly Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_007911 p.Met165Arg Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007912 p.Leu195Phe Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007913 p.Leu253Gln Disease rs36033115 Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007914 p.Asn304Lys Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007915 p.Gly318Arg Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007916 p.Arg332His Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_007917 p.Ile334Thr Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_009103 p.Pro62Leu Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_009104 p.Val134Gln Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_009104 p.Val134Gln Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_009105 p.His220Pro Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_009106 p.Phe229Leu Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_009107 p.Tyr311Cys Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_009108 p.Met324Thr Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_010985 p.Arg142Gln Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_010986 p.Leu161Gln Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_010987 p.Ser219Phe Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_010988 p.Pro235Ser Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022567 p.Gly25Glu Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022568 p.Phe46Leu Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_022569 p.Ala80Ser Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022570 p.Arg144Pro Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022571 p.Gly156Asp Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022572 p.Arg193Pro Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022573 p.Leu216Gln Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022574 p.Glu218Lys Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022575 p.Phe232Leu Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022576 p.Ile260Thr Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022577 p.Leu282Arg Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_022578 p.Gly303Ser Disease - Familial porphyria cutanea tarda (FPCT) [MIM:176100] UROD P06132 VAR_060683 p.Lys15Glu Polymorphism rs11541959 - UROD P06132 VAR_060684 p.Pro106Leu Polymorphism rs11541962 - UROD P06132 VAR_060685 p.Arg113Thr Polymorphism rs11541963 - UROD P06132 VAR_060686 p.Gly303Val Polymorphism rs17849533 - UROD P06132 VAR_065558 p.Gly168Arg Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROD P06132 VAR_065559 p.Gly170Asp Disease - Hepatoerythropoietic porphyria (HEP) [MIM:176100] UROS P10746 VAR_003674 p.Leu4Phe Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003675 p.Tyr19Cys Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003676 p.Pro53Leu Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003677 p.Thr62Ala Disease rs28941775 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003678 p.Ala66Val Disease rs28941774 Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003679 p.Cys73Arg Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003680 p.Val82Phe Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003681 p.Val99Ala Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003682 p.Ala104Val Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003683 p.Ser212Pro Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003684 p.Gly225Ser Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_003685 p.Thr228Met Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_013558 p.Gly188Arg Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021615 p.Val3Phe Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021616 p.Ser47Pro Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021617 p.Ala69Thr Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021618 p.Ile129Thr Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021619 p.Gly188Trp Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_021621 p.Ile219Ser Disease - Congenital erythropoietic porphyria (CEP) [MIM:263700] UROS P10746 VAR_049345 p.Lys124Arg Polymorphism rs17153561 - UROS P10746 VAR_049346 p.Val171Gly Polymorphism rs17173752 - USB1 Q9BQ65 VAR_030277 p.Gln250Glu Polymorphism rs16959641 - USB1 Q9BQ65 VAR_053822 p.Arg115Lys Polymorphism rs35025252 - USE1 Q9NZ43 VAR_021052 p.Leu154Ser Polymorphism rs414528 - USH1C Q9Y6N9 VAR_012320 p.Glu519Asp Polymorphism rs1064074 - USH1G Q495M9 VAR_023739 p.Leu48Pro Disease - Usher syndrome type 1G (USH1G) [MIM:606943] USH1G Q495M9 VAR_060468 p.Asp458Val Disease - Usher syndrome type 1G (USH1G) [MIM:606943] USH2A O75445 VAR_025760 p.Ala125Thr Polymorphism rs10779261 - USH2A O75445 VAR_025761 p.Cys163Tyr Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025762 p.Val218Glu Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025763 p.Val230Met Disease rs45500891 Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025764 p.Cys319Tyr Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025765 p.Arg334Trp Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025766 p.Asn346His Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025767 p.Cys419Phe Disease - Retinitis pigmentosa type 39 (RP39) [MIM:613809] USH2A O75445 VAR_025767 p.Cys419Phe Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025768 p.Glu478Asp Disease rs35730265 Retinitis pigmentosa type 39 (RP39) [MIM:613809] USH2A O75445 VAR_025768 p.Glu478Asp Disease rs35730265 Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025769 p.Cys536Arg Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025770 p.Leu555Val Disease rs35818432 Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025771 p.His610Pro Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025772 p.Asp644Val Polymorphism rs1805048 - USH2A O75445 VAR_025773 p.Asp703Glu Polymorphism - - USH2A O75445 VAR_025774 p.Gly713Arg Disease rs696723 Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025775 p.Cys759Phe Disease - Retinitis pigmentosa type 39 (RP39) [MIM:613809] USH2A O75445 VAR_025775 p.Cys759Phe Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025776 p.Pro761Arg Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025777 p.Ser841Tyr Polymorphism - - USH2A O75445 VAR_025778 p.Arg1486Lys Polymorphism rs1805049 - USH2A O75445 VAR_025779 p.Thr1515Met Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025780 p.Arg4115Cys Disease - Retinitis pigmentosa type 39 (RP39) [MIM:613809] USH2A O75445 VAR_025780 p.Arg4115Cys Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_025781 p.Thr4425Met Unclassified - - USH2A O75445 VAR_034064 p.Asn3199Asp Polymorphism rs4129843 - USH2A O75445 VAR_038362 p.Ile1665Thr Polymorphism rs56222536 - USH2A O75445 VAR_038363 p.Ile2106Thr Polymorphism rs6657250 - USH2A O75445 VAR_038364 p.Ile2169Thr Polymorphism rs10864219 - USH2A O75445 VAR_038365 p.Arg2875Gln Polymorphism rs12118814 - USH2A O75445 VAR_038366 p.Asn3099Ser Polymorphism rs41277194 - USH2A O75445 VAR_038367 p.Asp3144Asn Polymorphism rs11120645 - USH2A O75445 VAR_038368 p.Ile3335Met Polymorphism - - USH2A O75445 VAR_038369 p.Arg4674Gly Disease - Retinitis pigmentosa type 39 (RP39) [MIM:613809] USH2A O75445 VAR_050087 p.Glu3411Ala Polymorphism rs10864198 - USH2A O75445 VAR_050088 p.Thr3835Ile Polymorphism rs11120616 - USH2A O75445 VAR_050089 p.Arg4739Lys Polymorphism rs12085354 - USH2A O75445 VAR_054557 p.Gly268Arg Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054558 p.Leu280Phe Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054559 p.Glu284Lys Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054560 p.Arg303Cys Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054561 p.Arg303Ser Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054562 p.Ser307Ile Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054563 p.Arg334Gln Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054564 p.Thr352Ile Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054565 p.Asn357Thr Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054566 p.Leu365Phe Polymorphism - - USH2A O75445 VAR_054567 p.Ser391Ile Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054568 p.Arg464Cys Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054569 p.Phe479Ser Polymorphism - - USH2A O75445 VAR_054570 p.Gly516Val Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054571 p.Arg517Thr Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054572 p.Cys575Ser Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054574 p.Phe595Ser Polymorphism - - USH2A O75445 VAR_054575 p.Phe739Leu Disease - Retinitis pigmentosa type 39 (RP39) [MIM:613809] USH2A O75445 VAR_054576 p.Thr911Asn Disease - Retinitis pigmentosa type 39 (RP39) [MIM:613809] USH2A O75445 VAR_054577 p.Leu1047Val Polymorphism - - USH2A O75445 VAR_054578 p.Pro1059Leu Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054579 p.Pro1212Leu Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054580 p.Ser1349Pro Polymorphism - - USH2A O75445 VAR_054581 p.Leu1470Arg Disease - Retinitis pigmentosa type 39 (RP39) [MIM:613809] USH2A O75445 VAR_054582 p.Leu1572Phe Polymorphism - - USH2A O75445 VAR_054583 p.Tyr1757Cys Polymorphism - - USH2A O75445 VAR_054584 p.Val1833Glu Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054585 p.Lys2080Asn Polymorphism - - USH2A O75445 VAR_054586 p.Thr2086Asn Polymorphism - - USH2A O75445 VAR_054587 p.Glu2238Ala Polymorphism rs41277212 - USH2A O75445 VAR_054588 p.Ala2249Asp Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054590 p.Arg2292His Polymorphism rs41277210 - USH2A O75445 VAR_054591 p.Arg2354His Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054592 p.Val2562Ala Polymorphism rs56385601 - USH2A O75445 VAR_054593 p.Ala2795Ser Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054594 p.Leu2886Phe Polymorphism rs41277200 - USH2A O75445 VAR_054595 p.Glu3088Lys Polymorphism rs56056328 - USH2A O75445 VAR_054596 p.Thr3115Ala Polymorphism rs56032526 - USH2A O75445 VAR_054597 p.Arg3124Gly Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054598 p.Cys3251Arg Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054599 p.Cys3267Arg Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054600 p.Cys3282Arg Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054602 p.Pro3504Thr Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054603 p.Trp3521Arg Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054604 p.Thr3571Met Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054605 p.Pro3590Leu Polymorphism - - USH2A O75445 VAR_054606 p.Met3868Val Polymorphism rs35309576 - USH2A O75445 VAR_054607 p.Pro3893Thr Polymorphism rs41303285 - USH2A O75445 VAR_054608 p.Gly3895Glu Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054609 p.Thr3976Met Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054610 p.Ser4054Ile Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054611 p.Pro4232Arg Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054612 p.Thr4337Met Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054613 p.Val4433Leu Polymorphism - - USH2A O75445 VAR_054614 p.Thr4439Ile Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054615 p.Tyr4487Cys Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054616 p.Gln4592His Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054617 p.Phe4624Val Polymorphism - - USH2A O75445 VAR_054618 p.Leu4795Arg Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054619 p.Pro4818Leu Disease - Usher syndrome type 2A (USH2A) [MIM:276901] USH2A O75445 VAR_054620 p.Arg5031Trp Polymorphism - - USH2A O75445 VAR_061350 p.Val2820Ile Polymorphism rs59174500 - USH2A O75445 VAR_061351 p.Gly4692Arg Polymorphism rs45549044 - USH2A O75445 VAR_061352 p.Gly4838Glu Polymorphism rs41315587 - USH2A O75445 VAR_064761 p.Thr453Ile Unclassified - - USHBP1 Q8N6Y0 VAR_027753 p.Met439Val Polymorphism rs9676419 - USHBP1 Q8N6Y0 VAR_027754 p.Val525Met Polymorphism rs12459398 - USHBP1 Q8N6Y0 VAR_051481 p.Ala677Val Polymorphism rs1043963 - USP10 Q14694 VAR_015859 p.Met200Val Polymorphism rs1862792 - USP10 Q14694 VAR_015860 p.Ser203Pro Polymorphism rs2326391 - USP10 Q14694 VAR_015861 p.Val204Leu Polymorphism rs1812061 - USP16 Q9Y5T5 VAR_020388 p.Gln141His Polymorphism rs2274802 - USP17L2 Q6R6M4 VAR_059750 p.Lys438Arg Polymorphism rs12543578 - USP17L7 P0C7H9 VAR_051526 p.Ala161Gly Polymorphism rs17815120 - USP17L7 P0C7H9 VAR_051527 p.Pro494Leu Polymorphism rs9694759 - USP18 Q9UMW8 VAR_024589 p.Thr169Met Polymorphism rs3180408 - USP19 O94966 VAR_051528 p.Asp36His Polymorphism rs11552724 - USP20 Q9Y2K6 VAR_051529 p.Ser103Tyr Polymorphism rs36086252 - USP20 Q9Y2K6 VAR_051530 p.Val444Ile Polymorphism rs36055332 - USP21 Q9UK80 VAR_051531 p.Pro91Ser Polymorphism rs34779722 - USP21 Q9UK80 VAR_051532 p.Gly321Asp Polymorphism rs17356051 - USP21 Q9UK80 VAR_051533 p.Pro336Thr Polymorphism rs1127525 - USP24 Q9UPU5 VAR_047154 p.Thr226Ile Polymorphism rs1165222 - USP24 Q9UPU5 VAR_047155 p.Gly1940Ser Polymorphism rs2274540 - USP24 Q9UPU5 VAR_047156 p.Tyr2134Ser Polymorphism rs12753590 - USP24 Q9UPU5 VAR_047157 p.Val2468Ala Polymorphism rs487230 - USP26 Q9BXU7 VAR_063414 p.Leu165Ser Polymorphism - - USP26 Q9BXU7 VAR_063415 p.Leu364Phe Polymorphism - - USP26 Q9BXU7 VAR_063416 p.His475Tyr Polymorphism - - USP26 Q9BXU7 VAR_063417 p.Leu517Phe Polymorphism - - USP26 Q9BXU7 VAR_063418 p.Met579Ile Polymorphism - - USP29 Q9HBJ7 VAR_022055 p.Glu586Lys Polymorphism rs3795003 - USP29 Q9HBJ7 VAR_024590 p.Asn368Ser Polymorphism rs1027392 - USP2 O75604 VAR_051519 p.Arg174Gln Polymorphism rs33929148 - USP2 O75604 VAR_051520 p.Asn383Ser Polymorphism rs45533837 - USP30 Q70CQ3 VAR_059751 p.His357Arg Polymorphism rs16939904 - USP31 Q70CQ4 VAR_027422 p.Asp445Tyr Polymorphism rs1978066 - USP31 Q70CQ4 VAR_027423 p.Gln532His Polymorphism rs4597335 - USP31 Q70CQ4 VAR_027424 p.Ile538Thr Polymorphism rs13339649 - USP31 Q70CQ4 VAR_027425 p.Ala552Thr Polymorphism rs9932912 - USP31 Q70CQ4 VAR_027426 p.Arg931Leu Polymorphism rs10083789 - USP31 Q70CQ4 VAR_051534 p.Asp1269Asn Polymorphism rs35541113 - USP31 Q70CQ4 VAR_051535 p.Arg1309Cys Polymorphism rs35254998 - USP32 Q8NFA0 VAR_051536 p.His76Tyr Polymorphism rs7208980 - USP32 Q8NFA0 VAR_051537 p.Ala1469Gly Polymorphism rs3207630 - USP32 Q8NFA0 VAR_051538 p.Gly1568Arg Polymorphism rs16944142 - USP32 Q8NFA0 VAR_051539 p.Thr1578Ile Polymorphism rs16944136 - USP34 Q70CQ2 VAR_047106 p.Met661Thr Polymorphism rs6722430 - USP34 Q70CQ2 VAR_047107 p.Leu1663Arg Polymorphism rs6723818 - USP34 Q70CQ2 VAR_047108 p.Asp2348Asn Polymorphism rs4386306 - USP35 Q9P2H5 VAR_057042 p.Val236Met Polymorphism rs2510044 - USP36 Q9P275 VAR_037277 p.Val271Ile Polymorphism rs3744793 - USP36 Q9P275 VAR_037278 p.Ile489Met Polymorphism rs3744795 - USP36 Q9P275 VAR_037279 p.Arg775Gln Polymorphism rs9889908 - USP36 Q9P275 VAR_037280 p.Gln806Arg Polymorphism rs3088040 - USP36 Q9P275 VAR_037281 p.Lys814Asn Polymorphism rs3744797 - USP36 Q9P275 VAR_037282 p.Arg828Cys Polymorphism rs1057040 - USP36 Q9P275 VAR_058034 p.Arg887Pro Polymorphism rs61760231 - USP37 Q86T82 VAR_059752 p.Leu979Ser Polymorphism rs6436058 - USP3 Q9Y6I4 VAR_051521 p.Pro360Thr Polymorphism rs34776764 - USP40 Q9NVE5 VAR_017123 p.Val666Ala Polymorphism rs838543 - USP40 Q9NVE5 VAR_017124 p.Arg1111Cys Polymorphism rs1048603 - USP40 Q9NVE5 VAR_059753 p.Thr1025Met Polymorphism rs34026756 - USP41 Q3LFD5 VAR_042574 p.Tyr130Cys Polymorphism rs2542134 - USP41 Q3LFD5 VAR_042575 p.Asn325Ser Polymorphism rs2277833 - USP42 Q9H9J4 VAR_059754 p.Leu1030Pro Polymorphism rs6463529 - USP44 Q9H0E7 VAR_017125 p.Thr91Ala Polymorphism rs3812813 - USP44 Q9H0E7 VAR_057043 p.Glu316Gln Polymorphism rs7305024 - USP44 Q9H0E7 VAR_057044 p.Arg348Gly Polymorphism rs7135642 - USP45 Q70EL2 VAR_031167 p.Lys67Glu Polymorphism rs7744845 - USP45 Q70EL2 VAR_031168 p.Asn778Ser Polymorphism rs6570065 - USP45 Q70EL2 VAR_060663 p.Arg521Thr Polymorphism rs41288947 - USP46 P62068 VAR_051540 p.Ala81Val Polymorphism rs17475800 - USP47 Q96K76 VAR_022787 p.Gly163Val Polymorphism rs11022079 - USP48 Q86UV5 VAR_027427 p.Ser125Cys Polymorphism rs4253886 - USP48 Q86UV5 VAR_027428 p.Glu135Lys Polymorphism rs12097805 - USP4 Q13107 VAR_028180 p.Tyr620Cys Polymorphism rs9311440 - USP53 Q70EK8 VAR_051541 p.Ser962Arg Polymorphism rs3749591 - USP54 Q70EL1 VAR_036360 p.Leu505Val Unclassified - A breast cancer sample USP54 Q70EL1 VAR_047258 p.Lys976Glu Polymorphism rs1618542 - USP54 Q70EL1 VAR_047259 p.Asp1231Asn Polymorphism rs4619071 - USP54 Q70EL1 VAR_047260 p.Gly1367Asp Polymorphism rs7083344 - USP6 P35125 VAR_051522 p.Trp475Arg Polymorphism rs8073787 - USP6 P35125 VAR_051523 p.Arg912Gln Polymorphism rs9899177 - USP6 P35125 VAR_051524 p.Ile1330Val Polymorphism rs1053611 - USP6 P35125 VAR_059749 p.Val525Ile Polymorphism rs2304449 - USP8 P40818 VAR_017796 p.Asp443Gly Polymorphism rs3743044 - USP8 P40818 VAR_017797 p.Ala827Gly Polymorphism rs1056577 - USP8 P40818 VAR_051525 p.Thr739Ala Polymorphism rs11638390 - USP9Y O00507 VAR_016194 p.Ala1060Thr Polymorphism rs20320 - USP9Y O00507 VAR_029328 p.Pro1035Ser Polymorphism rs20319 - USP9Y O00507 VAR_055350 p.Glu65Asp Polymorphism rs7067496 - USP9Y O00507 VAR_055351 p.Arg211Cys Polymorphism rs2032596 - USP9Y O00507 VAR_055352 p.Ala1705Ser Polymorphism rs2032606 - USPL1 Q5W0Q7 VAR_030916 p.Glu173Gly Polymorphism rs17853512 - USPL1 Q5W0Q7 VAR_030917 p.Pro384Ser Polymorphism rs3742303 - USPL1 Q5W0Q7 VAR_030918 p.Ala522Pro Polymorphism rs17609459 - USPL1 Q5W0Q7 VAR_030919 p.Leu531Ser Polymorphism rs7984952 - USPL1 Q5W0Q7 VAR_030920 p.Ser739Cys Polymorphism rs9578190 - USPL1 Q5W0Q7 VAR_030921 p.Ser950Asn Polymorphism rs3742302 - USPL1 Q5W0Q7 VAR_030922 p.Thr1043Ser Polymorphism rs17857086 - USPL1 Q5W0Q7 VAR_051542 p.Ile583Val Polymorphism rs41412648 - USPL1 Q5W0Q7 VAR_051543 p.Leu786Ile Polymorphism rs35371042 - UST Q9Y2C2 VAR_059819 p.Met21Leu Polymorphism rs9498146 - UTF1 Q5T230 VAR_051485 p.Gly73Arg Polymorphism rs11599284 - UTP14A Q9BVJ6 VAR_022811 p.Val487Ala Polymorphism rs2281278 - UTP14C Q5TAP6 VAR_022812 p.Gly85Val Polymorphism rs3742289 - UTP14C Q5TAP6 VAR_022813 p.Thr101Ala Polymorphism rs3742290 - UTP14C Q5TAP6 VAR_051482 p.Arg319His Polymorphism rs17402034 - UTP15 Q8TED0 VAR_057621 p.Tyr228His Polymorphism rs16870608 - UTP15 Q8TED0 VAR_057622 p.Arg332Ser Polymorphism rs35313343 - UTP15 Q8TED0 VAR_057623 p.Thr483Pro Polymorphism rs35898225 - UTP20 O75691 VAR_022162 p.Ser502Cys Polymorphism rs4764643 - UTP20 O75691 VAR_022163 p.Glu2612Gln Polymorphism rs1061436 - UTP20 O75691 VAR_036274 p.Lys1645Ile Unclassified - A breast cancer sample UTP20 O75691 VAR_036275 p.Ile2452Phe Unclassified - A breast cancer sample UTP20 O75691 VAR_055135 p.Met120Thr Polymorphism rs2290723 - UTP20 O75691 VAR_055136 p.Leu1882Gln Polymorphism rs10082778 - UTP23 Q9BRU9 VAR_032031 p.His170Arg Polymorphism rs16888722 - UTP23 Q9BRU9 VAR_032032 p.Lys195Gln Polymorphism rs1133950 - UTP23 Q9BRU9 VAR_032033 p.Pro215Leu Polymorphism rs16888728 - UTP3 Q9NQZ2 VAR_051897 p.Thr23Met Polymorphism rs16845385 - UTP6 Q9NYH9 VAR_026668 p.Gln69Arg Polymorphism rs3760454 - UTP6 Q9NYH9 VAR_031222 p.Lys35Arg Polymorphism rs16967042 - UTP6 Q9NYH9 VAR_049322 p.Leu134Val Polymorphism rs34859443 - UTRN P46939 VAR_047794 p.Leu1880Ile Polymorphism rs12204715 - UTRN P46939 VAR_047795 p.Ala1974Thr Polymorphism rs12204734 - UTRN P46939 VAR_047796 p.Gly2060Asp Polymorphism rs35676466 - UTRN P46939 VAR_047797 p.Asn2202Ser Polymorphism rs1534443 - UTS2D Q765I0 VAR_044517 p.Ser21Ile Polymorphism rs6788319 - UTS2 O95399 VAR_029313 p.Ser74Asn Polymorphism rs2890565 - UTS2 O95399 VAR_053734 p.Ile12Thr Polymorphism rs34305100 - UTS2R Q9UKP6 VAR_035768 p.Ser146Arg Unclassified - A breast cancer sample UTS2R Q9UKP6 VAR_049451 p.Ala70Pro Polymorphism rs34442190 - UVRAG Q9P2Y5 VAR_059737 p.Pro10His Polymorphism rs7118567 - UVSSA Q2YD98 VAR_038499 p.Arg391His Polymorphism rs2276904 - UVSSA Q2YD98 VAR_038500 p.Pro620Leu Polymorphism rs28522910 - VANGL1 Q8TAA9 VAR_027143 p.Ala116Thr Polymorphism rs4839469 - VANGL1 Q8TAA9 VAR_035209 p.Val239Ile Disease - Sacral defect with anterior meningocele (SDAM) [MIM:600145] VANGL1 Q8TAA9 VAR_035210 p.Arg274Gln Disease - Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_035211 p.Met328Thr Disease - Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_035435 p.Glu347Ala Polymorphism rs34059106 - VANGL1 Q8TAA9 VAR_062321 p.Glu25Lys Polymorphism - - VANGL1 Q8TAA9 VAR_062322 p.Ser83Leu Disease - Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062323 p.Phe153Ser Disease - Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062324 p.Arg175Gln Polymorphism - - VANGL1 Q8TAA9 VAR_062325 p.Arg181Gln Disease - Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062326 p.Leu202Phe Disease - Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062327 p.Thr251Met Polymorphism - - VANGL1 Q8TAA9 VAR_062328 p.Tyr290His Polymorphism - - VANGL1 Q8TAA9 VAR_062329 p.Ala404Ser Disease - Neural tube defects (NTD) [MIM:182940] VANGL1 Q8TAA9 VAR_062330 p.Asp468Glu Polymorphism - - VAPA Q9P0L0 VAR_050440 p.Met8Thr Polymorphism rs1044163 - VAPA Q9P0L0 VAR_050441 p.Pro104Leu Polymorphism rs1127666 - VAPB O95292 VAR_026743 p.Pro56Ser Disease rs74315431 Amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627] VAPB O95292 VAR_026743 p.Pro56Ser Disease rs74315431 Spinal muscular atrophy proximal adult autosomal dominant (SMAPAD) [MIM:182980] VARS2 Q5ST30 VAR_043730 p.Gly64Arg Polymorphism rs6926723 - VARS2 Q5ST30 VAR_043731 p.Trp449Arg Polymorphism rs2249464 - VARS2 Q5ST30 VAR_043732 p.Val680Leu Polymorphism rs2074506 - VARS2 Q5ST30 VAR_043733 p.Arg917Gln Polymorphism rs9394021 - VARS2 Q5ST30 VAR_043734 p.Ala965Thr Polymorphism rs2252863 - VARS2 Q5ST30 VAR_043735 p.Arg1049Gln Polymorphism rs4678 - VARS2 Q5ST30 VAR_052651 p.His26Tyr Polymorphism rs6926224 - VARS2 Q5ST30 VAR_061910 p.Val765Met Polymorphism rs55865499 - VARS P26640 VAR_052647 p.Pro51Arg Polymorphism rs2607015 - VARS P26640 VAR_052648 p.Arg181Cys Polymorphism rs35196751 - VARS P26640 VAR_052649 p.Pro626Ser Polymorphism rs11531 - VARS P26640 VAR_052650 p.Pro1008Leu Polymorphism rs1076827 - VARS P26640 VAR_061909 p.Pro51Thr Polymorphism rs2753960 - VASN Q6EMK4 VAR_025991 p.Glu384Ala Polymorphism rs3810818 - VASP P50552 VAR_048929 p.Ala104Thr Polymorphism rs10415373 - VASP P50552 VAR_048930 p.Gln140His Polymorphism rs34345197 - VAV1 P15498 VAR_051997 p.Thr739Met Polymorphism rs36097961 - VAV2 P52735 VAR_045690 p.Met594Val Polymorphism rs602990 - VAV3 Q9UKW4 VAR_033522 p.Thr298Ser Polymorphism rs7528153 - VAV3 Q9UKW4 VAR_033523 p.Gln618His Polymorphism rs12403266 - VAV3 Q9UKW4 VAR_051998 p.Pro616Ser Polymorphism rs12410676 - VAV3 Q9UKW4 VAR_061800 p.Asp139Asn Polymorphism rs34318889 - VAX2 Q9UIW0 VAR_020152 p.Pro254Arg Polymorphism rs2234500 - VBP1 P61758 VAR_023371 p.Met123Val Polymorphism rs572013 - VCAM1 P19320 VAR_014309 p.Ser318Phe Polymorphism rs3783611 - VCAM1 P19320 VAR_014310 p.Thr384Ala Polymorphism rs3783612 - VCAM1 P19320 VAR_014311 p.Gly413Ala Polymorphism rs3783613 - VCAM1 P19320 VAR_014312 p.Ile716Leu Polymorphism rs3783615 - VCAM1 P19320 VAR_049951 p.Met18Ile Polymorphism rs34228330 - VCAM1 P19320 VAR_049952 p.Val421Ile Polymorphism rs34100871 - VCAM1 P19320 VAR_049953 p.His488Arg Polymorphism rs34199378 - VCAN P13611 VAR_020214 p.Gly428Asp Polymorphism rs2287926 - VCAN P13611 VAR_020215 p.Phe2301Tyr Polymorphism rs160278 - VCAN P13611 VAR_020216 p.Val2315Leu Polymorphism rs3734094 - VCAN P13611 VAR_021958 p.Ser300Leu Polymorphism rs2652098 - VCAN P13611 VAR_021959 p.Lys1516Arg Polymorphism rs309559 - VCAN P13611 VAR_021960 p.Asp2937Tyr Polymorphism rs160277 - VCAN P13611 VAR_031632 p.Arg1826His Polymorphism rs188703 - VCAN P13611 VAR_031633 p.Asn3011Lys Polymorphism rs16900532 - VCL P18206 VAR_035101 p.Leu277Met Disease - Familial hypertrophic cardiomyopathy type 15 (CMH15) [MIM:613255] VCL P18206 VAR_035102 p.Ala934Val Polymorphism rs16931179 - VCL P18206 VAR_035103 p.Pro943Ala Polymorphism - - VCL P18206 VAR_035105 p.Arg975Trp Disease - Cardiomyopathy dilated type 1W (CMD1W) [MIM:611407] VCL P18206 VAR_037667 p.Val234Leu Polymorphism rs17853882 - VCP P55072 VAR_033016 p.Arg95Gly Disease - Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VCP P55072 VAR_033017 p.Arg155Cys Disease - Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VCP P55072 VAR_033018 p.Arg155His Disease - Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954] VCP P55072 VAR_033018 p.Arg155His Disease - Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VCP P55072 VAR_033019 p.Arg155Pro Disease - Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VCP P55072 VAR_033020 p.Arg159His Disease - Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VCP P55072 VAR_033021 p.Arg191Gln Disease - Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954] VCP P55072 VAR_033021 p.Arg191Gln Disease - Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VCP P55072 VAR_033022 p.Ala232Glu Disease - Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VCX2 Q9H322 VAR_047772 p.Ala70Gly Polymorphism rs41309545 - VCX2 Q9H322 VAR_047773 p.Leu104Pro Polymorphism rs41305169 - VCX2 Q9H322 VAR_047774 p.Val110Leu Polymorphism rs1058237 - VCX2 Q9H322 VAR_047775 p.Thr138Ser Polymorphism rs1058239 - VCX3B Q9H321 VAR_037644 p.Lys15Thr Polymorphism rs5934423 - VDAC2 P45880 VAR_006380 p.Ala24Val Polymorphism - - VDR P11473 VAR_004656 p.Gly33Asp Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004657 p.His35Gln Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004658 p.Lys45Glu Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004659 p.Gly46Asp Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004660 p.Phe47Ile Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004661 p.Arg50Gln Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004662 p.Arg73Gln Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004663 p.Arg80Gln Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004664 p.Arg274Leu Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004665 p.His305Gln Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004666 p.Ile314Ser Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_004667 p.Arg391Cys Disease - Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VDR P11473 VAR_029309 p.Leu230Val Polymorphism rs11574090 - VDR P11473 VAR_029310 p.Thr362Ile Polymorphism rs11574115 - VENTX O95231 VAR_035243 p.Leu42Pro Polymorphism rs2240892 - VENTX O95231 VAR_035244 p.Met79Val Polymorphism rs2240891 - VENTX O95231 VAR_049591 p.Glu101Lys Polymorphism rs2270192 - VENTX O95231 VAR_049592 p.Gly191Arg Polymorphism rs9418952 - VENTX O95231 VAR_061269 p.Gly247Asp Polymorphism rs9418953 - VEPH1 Q14D04 VAR_034692 p.Ser208Cys Polymorphism rs34559487 - VEPH1 Q14D04 VAR_034693 p.Val263Gly Polymorphism rs1378796 - VEPH1 Q14D04 VAR_034694 p.Ser271Cys Polymorphism rs1378795 - VEPH1 Q14D04 VAR_034695 p.Met319Val Polymorphism rs11923380 - VEPH1 Q14D04 VAR_034696 p.Leu329Val Polymorphism rs34823544 - VEPH1 Q14D04 VAR_034697 p.Arg365Gln Polymorphism rs16827563 - VEPH1 Q14D04 VAR_034698 p.Ser522Pro Polymorphism rs11918974 - VEPH1 Q14D04 VAR_061683 p.Ser501Leu Polymorphism rs59504298 - VEZT Q9HBM0 VAR_014945 p.Gly762Asp Polymorphism rs14121 - VEZT Q9HBM0 VAR_046303 p.Thr162Ala Polymorphism rs17855933 - VEZT Q9HBM0 VAR_046304 p.Val496Ile Polymorphism rs10507051 - VEZT Q9HBM0 VAR_046305 p.Val612Met Polymorphism rs17344738 - VEZT Q9HBM0 VAR_046306 p.Ser668Ala Polymorphism rs17855934 - VGLL1 Q99990 VAR_053735 p.Thr59Ile Polymorphism rs3027860 - VGLL4 Q14135 VAR_024689 p.Met32Ile Polymorphism rs2276749 - VHL P40337 VAR_005670 p.Ser38Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005671 p.Glu52Lys Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005672 p.Ser65Leu Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005673 p.Ser65Trp Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005675 p.Ser68Trp Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005675 p.Ser68Trp Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005676 p.Glu70Lys Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005677 p.Val74Gly Disease rs5030803 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005679 p.Phe76Ile Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005680 p.Phe76Leu Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005681 p.Phe76Ser Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005682 p.Asn78His Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005683 p.Asn78Ser Disease rs5030804 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005684 p.Asn78Thr Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005685 p.Arg79Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005686 p.Ser80Ile Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005687 p.Ser80Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005688 p.Ser80Asn Disease rs5030805 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005688 p.Ser80Asn Disease rs5030805 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005689 p.Pro81Ser Disease rs5030806 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005690 p.Arg82Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005692 p.Val84Leu Disease rs5030827 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005693 p.Pro86Ala Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005694 p.Pro86Leu Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005695 p.Pro86Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005696 p.Pro86Ser Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005697 p.Trp88Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005698 p.Trp88Ser Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005699 p.Leu89His Unclassified - Lung cancer VHL P40337 VAR_005700 p.Leu89Pro Disease rs5030807 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005701 p.Phe91Leu Unclassified - - VHL P40337 VAR_005703 p.Gly93Cys Disease rs5030808 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005703 p.Gly93Cys Disease rs5030808 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005704 p.Gly93Asp Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005705 p.Gly93Ser Disease rs5030808 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005705 p.Gly93Ser Disease rs5030808 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005706 p.Gln96Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005707 p.Tyr98His Disease rs5030809 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005707 p.Tyr98His Disease rs5030809 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005708 p.Leu101Gly Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005709 p.Leu101Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005710 p.Gly104Ala Unclassified - - VHL P40337 VAR_005711 p.Thr105Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005712 p.Gly106Asp Unclassified - Lung cancer VHL P40337 VAR_005713 p.Arg107Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005714 p.Ser111Cys Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005715 p.Ser111Asn Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005716 p.Ser111Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005717 p.Tyr112His Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005718 p.Gly114Cys Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005719 p.Gly114Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005720 p.Gly114Ser Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005722 p.His115Tyr Disease rs5030811 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005723 p.His115Gln Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005724 p.Leu116Val Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005725 p.Trp117Cys Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005726 p.Leu118Pro Disease rs5030830 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005727 p.Leu118Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005728 p.Phe119Leu Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005728 p.Phe119Leu Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005729 p.Phe119Ser Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005730 p.Asp121Gly Disease rs5030832 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005731 p.Leu128Phe Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005733 p.Val130Leu Disease - Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VHL P40337 VAR_005733 p.Val130Leu Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005734 p.Asn131Lys Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005735 p.Asn131Thr Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005736 p.Phe136Ser Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005737 p.Phe136Cys Disease rs5030833 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005737 p.Phe136Cys Disease rs5030833 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005738 p.Asp143Glu Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005740 p.Ala149Thr Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005741 p.Pro154Leu Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005742 p.Val155Gly Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005743 p.Tyr156Cys Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005743 p.Tyr156Cys Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005744 p.Tyr156Asp Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005746 p.Thr157Ile Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005748 p.Leu158Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005749 p.Leu158Val Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005750 p.Lys159Glu Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005751 p.Arg161Gln Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005751 p.Arg161Gln Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005752 p.Arg161Pro Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005752 p.Arg161Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005753 p.Arg161Gly Disease rs5030818 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005754 p.Cys162Phe Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005755 p.Cys162Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005756 p.Cys162Trp Disease rs5030622 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005757 p.Cys162Tyr Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005758 p.Gln164Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005759 p.Val166Phe Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005760 p.Arg167Gly Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005761 p.Arg167Gln Disease rs5030821 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005761 p.Arg167Gln Disease rs5030821 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005762 p.Arg167Trp Disease rs5030820 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005762 p.Arg167Trp Disease rs5030820 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005763 p.Val170Asp Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005764 p.Val170Phe Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005765 p.Val170Gly Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005766 p.Tyr175Asp Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005768 p.Leu178Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005769 p.Leu178Gln Disease rs5030822 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005770 p.Ile180Val Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005771 p.Leu184Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005772 p.Leu184Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005773 p.Glu186Lys Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005775 p.Leu188Pro Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005776 p.Leu188Gln Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005777 p.Leu188Val Disease rs5030824 Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VHL P40337 VAR_005777 p.Leu188Val Disease rs5030824 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_005777 p.Leu188Val Disease rs5030824 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005778 p.Leu198Arg Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_005779 p.Arg200Trp Disease rs28940298 Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VHL P40337 VAR_005779 p.Arg200Trp Disease rs28940298 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008097 p.Pro86His Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008098 p.His115Arg Disease rs5030812 Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008099 p.Phe136Tyr Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008100 p.Gln145His Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008101 p.Val155Met Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008102 p.Gln164His Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008103 p.Val166Asp Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_008104 p.Arg176Trp Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_034562 p.Pro25Leu Disease rs35460768 Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034987 p.Leu63Pro Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034988 p.Arg64Pro Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034989 p.Ser65Ala Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034991 p.Arg107Gly Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034992 p.Tyr112Asn Disease - Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL P40337 VAR_034993 p.Ala122Ile Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034994 p.Asp126Tyr Disease - Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VHL P40337 VAR_034995 p.Leu135Phe Unclassified - - VHL P40337 VAR_034996 p.Ile147Thr Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034997 p.Tyr156Asn Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_034998 p.Leu163Pro Disease rs28940297 Renal cell carcinoma (RCC) [MIM:144700] VHL P40337 VAR_034999 p.His191Asp Disease rs28940301 Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VHL P40337 VAR_035000 p.Pro192Ser Disease rs28940300 Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VHL P40337 VAR_035001 p.Leu198Gln Disease - Pheochromocytoma (PCC) [MIM:171300] VHL P40337 VAR_055087 p.His110Tyr Polymorphism rs17855706 - VIL1 P09327 VAR_054502 p.Lys254Arg Polymorphism rs35305540 - VILL O15195 VAR_052938 p.Phe610Leu Polymorphism rs1892814 - VILL O15195 VAR_052939 p.Leu740Phe Polymorphism rs9816693 - VIPR1 P32241 VAR_020021 p.Arg445Leu Polymorphism rs3733055 - VIPR1 P32241 VAR_055041 p.Arg341Met Polymorphism rs17855906 - VIPR2 P41587 VAR_011811 p.Ala39Thr Polymorphism rs1062609 - VIPR2 P41587 VAR_011812 p.Arg412His Polymorphism rs1042620 - VKORC1 Q9BQB6 VAR_021821 p.Val29Leu Disease rs104894539 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_021822 p.Val45Ala Disease rs104894540 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_021823 p.Arg58Gly Disease rs104894541 Coumarin resistance (CMRES) [MIM:122700] VKORC1 Q9BQB6 VAR_021824 p.Arg98Trp Disease - Combined deficiency of vitamin K-dependent clotting factors type 2 (VKCFD2) [MIM:607473] VKORC1 Q9BQB6 VAR_021825 p.Leu128Arg Disease rs104894542 Coumarin resistance (CMRES) [MIM:122700] VLDLR P98155 VAR_011865 p.Val59Ile Polymorphism rs6149 - VLDLR P98155 VAR_011866 p.Glu379Lys Polymorphism rs6146 - VLDLR P98155 VAR_025063 p.Pro262His Polymorphism rs34761707 - VLDLR P98155 VAR_025064 p.Leu464Ile Polymorphism rs34753566 - VLDLR P98155 VAR_025065 p.Ile561Val Polymorphism rs35724190 - VLDLR P98155 VAR_025066 p.Arg613His Polymorphism rs35948251 - VLDLR P98155 VAR_025067 p.Val791Ile Polymorphism rs35334949 - VMO1 Q7Z5L0 VAR_034584 p.Thr77Ser Polymorphism rs2279961 - VMO1 Q7Z5L0 VAR_053736 p.Thr26Ala Polymorphism rs4790706 - VN1R1 Q9GZP7 VAR_022795 p.Ile139Thr Polymorphism - - VN1R1 Q9GZP7 VAR_022796 p.Ser241Phe Polymorphism rs28649880 - VN1R1 Q9GZP7 VAR_022797 p.Ala269Asp Polymorphism - - VN1R1 Q9GZP7 VAR_049452 p.Ile103Met Polymorphism rs3746223 - VN1R2 Q8NFZ6 VAR_022798 p.Cys38Arg Polymorphism rs2965249 - VN1R4 Q7Z5H5 VAR_022799 p.Ala52Val Polymorphism - - VN1R4 Q7Z5H5 VAR_022800 p.Arg58Leu Polymorphism - - VN1R4 Q7Z5H5 VAR_022801 p.Asp220Asn Polymorphism rs12977715 - VN1R5 Q7Z5H4 VAR_022802 p.Arg350Cys Polymorphism rs41308154 - VNN1 O95497 VAR_023529 p.Thr26Ile Polymorphism rs2294757 - VNN1 O95497 VAR_023967 p.Ala63Thr Polymorphism - - VNN1 O95497 VAR_023968 p.Asn131Ser Polymorphism rs2272996 - VNN1 O95497 VAR_023969 p.Val136Leu Polymorphism rs45610032 - VNN1 O95497 VAR_023970 p.Asp146Asn Polymorphism - - VNN1 O95497 VAR_023971 p.Glu296Asp Polymorphism rs45523444 - VNN1 O95497 VAR_023972 p.Ala325Glu Polymorphism rs34535050 - VNN1 O95497 VAR_023973 p.Thr336Ala Polymorphism rs45562238 - VNN1 O95497 VAR_023974 p.Ile373Thr Polymorphism rs35938565 - VNN2 O95498 VAR_023530 p.Leu404Met Polymorphism rs4895944 - VNN2 O95498 VAR_025177 p.Thr17Asn Polymorphism rs33950336 - VNN2 O95498 VAR_025178 p.Asp112Glu Polymorphism - - VNN2 O95498 VAR_025179 p.Val241Ile Polymorphism rs33920182 - VNN2 O95498 VAR_025180 p.Thr349Ser Polymorphism - - VNN2 O95498 VAR_031261 p.Val30Ala Polymorphism rs2294760 - VNN3 Q9NY84 VAR_025265 p.His33Arg Polymorphism rs764264 - VNN3 Q9NY84 VAR_025266 p.Thr89Ala Polymorphism rs36012859 - VNN3 Q9NY84 VAR_025267 p.Glu91Lys Polymorphism rs12174042 - VNN3 Q9NY84 VAR_025268 p.Val222Ala Polymorphism - - VPRBP Q9Y4B6 VAR_051486 p.Asn267Asp Polymorphism rs3749318 - VPRBP Q9Y4B6 VAR_051487 p.Leu378Phe Polymorphism rs17712228 - VPRBP Q9Y4B6 VAR_051488 p.Leu1031Pro Polymorphism rs9835229 - VPREB1 P12018 VAR_024503 p.Asp76Asn Polymorphism rs1320 - VPREB1 P12018 VAR_029133 p.Ser122Leu Polymorphism rs11089979 - VPREB1 P12018 VAR_029134 p.Glu132Lys Polymorphism rs5995720 - VPREB3 Q9UKI3 VAR_049954 p.Arg4Trp Polymorphism rs34372784 - VPS11 Q9H270 VAR_059813 p.Val770Ile Polymorphism rs11558589 - VPS13A Q96RL7 VAR_012803 p.Ser1452Pro Disease - Chorea-acanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_036324 p.Arg161His Unclassified - A colorectal cancer sample VPS13A Q96RL7 VAR_038420 p.Ile90Lys Disease rs28939379 Chorea-acanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_038421 p.Tyr2721Cys Disease - Chorea-acanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_058114 p.Phe565Leu Polymorphism - - VPS13A Q96RL7 VAR_058115 p.Val898Ala Polymorphism - - VPS13A Q96RL7 VAR_058116 p.Ala1095Pro Disease - Chorea-acanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_058117 p.Arg1490Lys Polymorphism - - VPS13A Q96RL7 VAR_058118 p.Tyr1587Cys Polymorphism - - VPS13A Q96RL7 VAR_058119 p.Val1973Ile Polymorphism rs41289969 - VPS13A Q96RL7 VAR_058120 p.Trp2460Arg Disease - Chorea-acanthocytosis (CHAC) [MIM:200150] VPS13A Q96RL7 VAR_058121 p.Ile2486Thr Polymorphism - - VPS13A Q96RL7 VAR_058122 p.Pro3172Leu Polymorphism - - VPS13B Q7Z7G8 VAR_017759 p.Leu2193Arg Disease - Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_036325 p.Leu3001Val Unclassified - A breast cancer sample VPS13B Q7Z7G8 VAR_038422 p.Tyr2341Cys Disease - Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_038423 p.Gly2645Asp Disease - Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_038424 p.Asn2993Ser Disease rs28940272 Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_057750 p.Pro1138Leu Polymorphism rs35342235 - VPS13B Q7Z7G8 VAR_057751 p.Val2584Ala Polymorphism rs7833870 - VPS13B Q7Z7G8 VAR_057752 p.Gly3432Arg Polymorphism rs6468694 - VPS13B Q7Z7G8 VAR_058749 p.Ala829Thr Polymorphism rs61753721 - VPS13B Q7Z7G8 VAR_058750 p.Val866Ile Polymorphism - - VPS13B Q7Z7G8 VAR_058753 p.Ile1994Val Polymorphism - - VPS13B Q7Z7G8 VAR_058754 p.Ser2773Leu Disease - Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_058755 p.Ile2820Thr Disease - Cohen syndrome (COH1) [MIM:216550] VPS13B Q7Z7G8 VAR_058756 p.Tyr2822Cys Polymorphism - - VPS13B Q7Z7G8 VAR_058757 p.Ser3142Arg Polymorphism - - VPS13C Q709C8 VAR_029548 p.Arg153His Polymorphism rs12595158 - VPS13C Q709C8 VAR_029549 p.Arg974Lys Polymorphism rs3784634 - VPS13C Q709C8 VAR_029550 p.Ile1132Val Polymorphism rs3784635 - VPS13C Q709C8 VAR_029551 p.Tyr1302Cys Polymorphism rs2303405 - VPS13C Q709C8 VAR_029552 p.Thr1485Ala Polymorphism rs8026956 - VPS13C Q709C8 VAR_029553 p.Ile1495Val Polymorphism rs11629598 - VPS13C Q709C8 VAR_029554 p.Ser1592Tyr Polymorphism rs11629838 - VPS13C Q709C8 VAR_029555 p.Val2322Met Polymorphism rs12907567 - VPS13C Q709C8 VAR_029556 p.Ser2913Asn Polymorphism rs10851704 - VPS13C Q709C8 VAR_053808 p.Lys2808Arg Polymorphism rs34060567 - VPS13D Q5THJ4 VAR_029557 p.Ala225Thr Polymorphism rs12057307 - VPS13D Q5THJ4 VAR_029558 p.Ser1341Leu Polymorphism rs12407578 - VPS13D Q5THJ4 VAR_029559 p.Glu1505Val Polymorphism rs4845898 - VPS13D Q5THJ4 VAR_029560 p.Ser1707Phe Polymorphism rs958068 - VPS13D Q5THJ4 VAR_062169 p.Ile1624Thr Polymorphism rs41279454 - VPS16 Q9H269 VAR_053776 p.Ser637Ile Polymorphism rs35773586 - VPS18 Q9P253 VAR_035950 p.Ala913Ser Unclassified - A colorectal cancer sample VPS25 Q9BRG1 VAR_048940 p.Ile76Val Polymorphism rs34494804 - VPS33A Q96AX1 VAR_052471 p.Ile256Leu Polymorphism rs34996966 - VPS33B Q9H267 VAR_013828 p.Gly514Ser Polymorphism rs11073964 - VPS33B Q9H267 VAR_018983 p.Leu30Pro Disease - Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1) [MIM:208085] VPS33B Q9H267 VAR_057330 p.Phe513Ser Polymorphism rs3177428 - VPS33B Q9H267 VAR_057901 p.Ser243Phe Disease - Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1) [MIM:208085] VPS35 Q96QK1 VAR_054046 p.Val602Asp Polymorphism rs34687100 - VPS37A Q8NEZ2 VAR_032287 p.Ile206Phe Polymorphism rs17502618 - VPS37A Q8NEZ2 VAR_032288 p.Ile213Val Polymorphism rs17687375 - VPS37C A5D8V6 VAR_037451 p.Val182Asp Polymorphism rs2232142 - VPS37C A5D8V6 VAR_037452 p.Leu198Ser Polymorphism rs754382 - VPS37C A5D8V6 VAR_037453 p.Ser261Ala Polymorphism rs4297482 - VPS41 P49754 VAR_047914 p.Thr146Pro Polymorphism rs35693565 - VPS41 P49754 VAR_047915 p.Cys647Arg Polymorphism rs11762417 - VPS41 P49754 VAR_047916 p.Arg843His Polymorphism rs1059508 - VPS4B O75351 VAR_023385 p.Ile58Met Polymorphism rs17688948 - VPS53 Q5VIR6 VAR_059959 p.Leu328Ile Polymorphism rs16954056 - VPS54 Q9P1Q0 VAR_052944 p.Ser561Cys Polymorphism rs34015596 - VPS54 Q9P1Q0 VAR_061983 p.Met912Ile Polymorphism rs11558741 - VPS72 Q15906 VAR_035803 p.Ile318Val Unclassified - A breast cancer sample VPS8 Q8N3P4 VAR_030730 p.Ile83Val Polymorphism rs9830734 - VPS8 Q8N3P4 VAR_030731 p.His1165Tyr Polymorphism rs11555405 - VPS8 Q8N3P4 VAR_030732 p.Ile1364Thr Polymorphism rs3821750 - VPS8 Q8N3P4 VAR_030733 p.Arg1372His Polymorphism rs16859527 - VRK2 Q86Y07 VAR_017095 p.Ile167Val Polymorphism rs1051061 - VRK2 Q86Y07 VAR_041293 p.Asn50Asp Polymorphism rs34130684 - VRK2 Q86Y07 VAR_041294 p.Ile157Met Polymorphism rs35966666 - VRK2 Q86Y07 VAR_051681 p.Asn211Ser Polymorphism rs36081172 - VRK3 Q8IV63 VAR_041295 p.Ser59Phe Polymorphism rs2033262 - VRK3 Q8IV63 VAR_041296 p.Pro105Thr Polymorphism rs11547882 - VRK3 Q8IV63 VAR_041297 p.Phe171Leu Polymorphism rs11547883 - VRK3 Q8IV63 VAR_041298 p.Ser268Leu Polymorphism rs10410075 - VRK3 Q8IV63 VAR_041299 p.Cys288Tyr Polymorphism rs10409482 - VRK3 Q8IV63 VAR_041300 p.Arg370Cys Polymorphism rs35331034 - VRK3 Q8IV63 VAR_041301 p.Ser371Gly Polymorphism rs56407496 - VRK3 Q8IV63 VAR_051682 p.Ser170Pro Polymorphism rs11547881 - VRK3 Q8IV63 VAR_051683 p.Thr188Ala Polymorphism rs11879620 - VRK3 Q8IV63 VAR_051684 p.His304Leu Polymorphism rs35261919 - VRTN Q9H8Y1 VAR_035677 p.Val133Met Unclassified - A colorectal cancer sample VRTN Q9H8Y1 VAR_050876 p.Leu53Phe Polymorphism rs2232032 - VSIG10L Q86VR7 VAR_063282 p.Asn3Thr Polymorphism rs10414211 - VSIG10L Q86VR7 VAR_063283 p.Met356Ile Polymorphism rs7259266 - VSIG10L Q86VR7 VAR_063284 p.Arg592Gln Polymorphism rs34380065 - VSIG10L Q86VR7 VAR_063285 p.Arg627His Polymorphism rs57710066 - VSIG10 Q8N0Z9 VAR_045692 p.Val333Met Polymorphism rs9668527 - VSIG10 Q8N0Z9 VAR_045693 p.His435Tyr Polymorphism rs7307331 - VSIG1 Q86XK7 VAR_049955 p.Val147Ile Polymorphism rs17254305 - VSIG4 Q9Y279 VAR_049956 p.Arg108Trp Polymorphism rs34581041 - VSIG4 Q9Y279 VAR_049957 p.Gly272Glu Polymorphism rs34222730 - VSIG4 Q9Y279 VAR_049958 p.Gly279Glu Polymorphism rs17315645 - VSIG4 Q9Y279 VAR_049959 p.Ser397Ile Polymorphism rs35553694 - VSNL1 P62760 VAR_047313 p.Ala65Gly Polymorphism rs1042674 - VSNL1 P62760 VAR_047314 p.Lys172Arg Polymorphism rs1042685 - VSTM1 Q6UX27 VAR_030034 p.Ser163Gly Polymorphism rs2433724 - VSTM2A Q8TAG5 VAR_047034 p.Glu84Lys Polymorphism rs17855529 - VSTM4 Q8IW00 VAR_030291 p.Phe68Ser Polymorphism rs13088 - VSTM4 Q8IW00 VAR_035539 p.Arg100His Unclassified - A colorectal cancer sample VSTM4 Q8IW00 VAR_065188 p.Lys243Arg Polymorphism rs17854124 - VSX1 Q9NZR4 VAR_014243 p.Asp144Glu Disease - Keratoconus type 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_014243 p.Asp144Glu Disease - Posterior polymorphous corneal dystrophy type 1 (PPCD1) [MIM:122000] VSX1 Q9NZR4 VAR_014244 p.Leu159Met Disease - Keratoconus type 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_014245 p.Gly160Asp Disease - Posterior polymorphous corneal dystrophy type 1 (PPCD1) [MIM:122000] VSX1 Q9NZR4 VAR_014246 p.Arg166Trp Disease - Keratoconus type 1 (KTCN1) [MIM:148300] VSX1 Q9NZR4 VAR_014247 p.His244Arg Unclassified - - VSX1 Q9NZR4 VAR_014248 p.Pro247Arg Unclassified - - VSX1 Q9NZR4 VAR_063100 p.Gln175His Disease - Keratoconus type 1 (KTCN1) [MIM:148300] VSX2 P58304 VAR_011618 p.Arg200Pro Disease - Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092] VSX2 P58304 VAR_011619 p.Arg200Gln Disease - Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092] VSX2 P58304 VAR_029357 p.Arg227Trp Disease - Microphthalmia isolated type 2 (MCOP2) [MIM:610093] VSX2 P58304 VAR_049593 p.Pro100Gln Polymorphism rs35214083 - VTA1 Q9NP79 VAR_053917 p.Ile239Met Polymorphism rs2232307 - VTN P04004 VAR_012983 p.Ala122Ser Polymorphism rs2227741 - VTN P04004 VAR_012984 p.Arg268Gln Polymorphism rs2227723 - VTN P04004 VAR_012985 p.Thr400Met Polymorphism rs704 - VWA2 Q5GFL6 VAR_035418 p.Ala9Thr Polymorphism rs9664945 - VWA2 Q5GFL6 VAR_035419 p.Glu131Gly Polymorphism rs597371 - VWA2 Q5GFL6 VAR_036641 p.Leu137Arg Unclassified - A colorectal cancer sample VWA3A A6NCI4 VAR_057020 p.Thr657Ile Polymorphism rs1105929 - VWA3A A6NCI4 VAR_057021 p.Gln1165Pro Polymorphism rs16972517 - VWA3A A6NCI4 VAR_059738 p.Thr464Ile Polymorphism rs1105929 - VWA3B Q502W6 VAR_043571 p.Arg181Trp Polymorphism rs2305355 - VWA3B Q502W6 VAR_043572 p.Leu677Val Polymorphism rs7601049 - VWA3B Q502W6 VAR_043573 p.Val885Met Polymorphism rs11889349 - VWA3B Q502W6 VAR_043574 p.Asp1223Glu Polymorphism rs17428626 - VWA3B Q502W6 VAR_043575 p.Arg1245Lys Polymorphism rs7587534 - VWA3B Q502W6 VAR_043576 p.Thr1277Ile Polymorphism rs2271038 - VWA3B Q502W6 VAR_057022 p.Ile1103Met Polymorphism rs6731704 - VWA5A O00534 VAR_014193 p.Ser499Ile Polymorphism rs2276054 - VWA5A O00534 VAR_014194 p.Arg506Lys Polymorphism rs2276053 - VWA5A O00534 VAR_014195 p.Arg757Cys Polymorphism - - VWA5A O00534 VAR_014196 p.His759Arg Polymorphism - - VWA5A O00534 VAR_059692 p.Ser202Gly Polymorphism rs35496433 - VWA5A O00534 VAR_059693 p.Glu205Lys Polymorphism rs35215239 - VWA5B1 Q5TIE3 VAR_039994 p.Ala319Ser Polymorphism rs2872972 - VWA5B1 Q5TIE3 VAR_039995 p.Asn469Ser Polymorphism rs2072752 - VWA5B1 Q5TIE3 VAR_039996 p.Ser506Asn Polymorphism rs12072406 - VWA5B1 Q5TIE3 VAR_039997 p.Lys634Arg Polymorphism rs10916769 - VWA5B2 Q8N398 VAR_043939 p.Pro211Ser Polymorphism rs902417 - VWA7 Q9Y334 VAR_056884 p.Arg139His Polymorphism rs17207531 - VWA7 Q9Y334 VAR_056885 p.Arg488Gln Polymorphism rs11966331 - VWA7 Q9Y334 VAR_056886 p.Arg680Gln Polymorphism rs28400004 - VWA7 Q9Y334 VAR_056887 p.Gly704Val Polymorphism rs28400002 - VWA7 Q9Y334 VAR_056888 p.Arg711Cys Polymorphism rs28400001 - VWA7 Q9Y334 VAR_060378 p.Thr861Ala Polymorphism rs3101017 - VWA8 A3KMH1 VAR_044337 p.Arg165His Polymorphism rs9562362 - VWA8 A3KMH1 VAR_044338 p.Met383Thr Polymorphism rs3742262 - VWA8 A3KMH1 VAR_044339 p.Gly408Arg Polymorphism rs17062601 - VWA8 A3KMH1 VAR_044340 p.Arg660Gly Polymorphism rs9562353 - VWA8 A3KMH1 VAR_049512 p.Glu1300Lys Polymorphism rs2274810 - VWA8 A3KMH1 VAR_061239 p.Arg898Lys Polymorphism rs41288291 - VWC2 Q2TAL6 VAR_035371 p.Ala120Gly Polymorphism rs769604 - VWCE Q96DN2 VAR_038782 p.Pro842Arg Polymorphism rs3750982 - VWDE Q8N2E2 VAR_047871 p.Lys964Asn Polymorphism rs6460939 - VWDE Q8N2E2 VAR_047872 p.Thr1032Met Polymorphism rs2053380 - VWDE Q8N2E2 VAR_047873 p.Gln1256Lys Polymorphism rs6967385 - VWDE Q8N2E2 VAR_047874 p.Phe1485Cys Polymorphism rs2192828 - VWF P04275 VAR_005782 p.Trp377Cys Disease - Von Willebrand disease type 3 (VWD3) [MIM:277480] VWF P04275 VAR_005783 p.Asn528Ser Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005784 p.Gly550Arg Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005785 p.Thr789Ala Polymorphism rs1063856 - VWF P04275 VAR_005786 p.Thr791Met Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005787 p.Arg816Trp Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005788 p.Gln852Arg Polymorphism rs216321 - VWF P04275 VAR_005789 p.Arg854Gln Disease rs41276738 Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005790 p.Asn857Asp Polymorphism - - VWF P04275 VAR_005791 p.Pro1266Leu Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005792 p.His1268Asp Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005793 p.Cys1272Arg Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005794 p.Arg1306Trp Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005795 p.Arg1308Cys Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005796 p.Trp1313Cys Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005797 p.Val1314Leu Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005798 p.Val1316Met Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005799 p.Val1318Leu Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005800 p.Gly1324Ser Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005801 p.Arg1341Gln Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005802 p.Arg1374Cys Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005803 p.Arg1374His Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005804 p.Thr1381Ala Polymorphism rs216311 - VWF P04275 VAR_005805 p.Arg1399His Polymorphism rs216312 - VWF P04275 VAR_005806 p.Leu1460Val Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005807 p.Ala1461Val Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005808 p.Phe1514Cys Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005809 p.Leu1540Pro Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005810 p.Tyr1584Cys Polymorphism rs1800386 - VWF P04275 VAR_005811 p.Arg1597Gly Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005812 p.Arg1597Gln Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005813 p.Arg1597Trp Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005814 p.Val1607Asp Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005815 p.Gly1609Arg Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005816 p.Ser1613Pro Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005817 p.Ile1628Thr Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005818 p.Glu1638Lys Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005819 p.Pro1648Ser Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005820 p.Val1665Glu Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_005821 p.Cys2739Tyr Disease - Von Willebrand disease type 3 (VWD3) [MIM:277480] VWF P04275 VAR_005822 p.Cys2773Arg Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_009141 p.Cys788Tyr Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_009142 p.Pro2063Ser Disease - Von Willebrand disease type 3 (VWD3) [MIM:277480] VWF P04275 VAR_009143 p.Cys2362Phe Disease - Von Willebrand disease type 3 (VWD3) [MIM:277480] VWF P04275 VAR_009144 p.Asn2546Tyr Disease - Von Willebrand disease type 3 (VWD3) [MIM:277480] VWF P04275 VAR_010242 p.Arg273Trp Disease - Von Willebrand disease type 1 (VWD1) [MIM:193400] VWF P04275 VAR_010242 p.Arg273Trp Disease - Von Willebrand disease type 3 (VWD3) [MIM:277480] VWF P04275 VAR_014630 p.Val1565Leu Polymorphism rs1800385 - VWF P04275 VAR_024553 p.His484Arg Polymorphism rs1800378 - VWF P04275 VAR_028446 p.Cys1060Arg Disease - Von Willebrand disease type 2 (VWD2) [MIM:613554] VWF P04275 VAR_029656 p.Asp1472His Polymorphism rs1800383 - VWF P04275 VAR_036276 p.Tyr1570Cys Unclassified - A breast cancer sample VWF P04275 VAR_057023 p.Asn318Lys Polymorphism rs1800387 - VWF P04275 VAR_057024 p.Met740Ile Polymorphism rs16932374 - VWF P04275 VAR_057025 p.Phe885Ser Polymorphism rs11064002 - VWF P04275 VAR_057026 p.Ala2178Ser Polymorphism rs34230288 - VWF P04275 VAR_057027 p.Arg2185Gln Polymorphism rs2229446 - VWF P04275 VAR_057028 p.Gly2705Arg Polymorphism rs7962217 - VWF P04275 VAR_060591 p.Val471Ile Polymorphism rs1800377 - VWF P04275 VAR_064925 p.Cys1149Arg Disease - Von Willebrand disease type 1 (VWD1) [MIM:193400] WAC Q9BTA9 VAR_028838 p.Ser242Arg Polymorphism rs11595926 - WAC Q9BTA9 VAR_028839 p.Thr531Ser Polymorphism rs7127 - WAC Q9BTA9 VAR_036351 p.Ser475Leu Unclassified - A colorectal cancer sample WAC Q9BTA9 VAR_053448 p.Thr309Ala Polymorphism rs2232791 - WAPAL Q7Z5K2 VAR_026967 p.Val124Ile Polymorphism rs10887621 - WARS2 Q9UGM6 VAR_020217 p.Ala267Pro Polymorphism rs3790549 - WARS2 Q9UGM6 VAR_028848 p.Gly50Ser Polymorphism rs11552864 - WARS2 Q9UGM6 VAR_052407 p.Leu360Pro Polymorphism rs17023101 - WARS P23381 VAR_036466 p.Glu455Asp Unclassified - A breast cancer sample WARS P23381 VAR_052406 p.Ala54Ser Polymorphism rs2234521 - WASF3 Q9UPY6 VAR_052953 p.Ser415Leu Polymorphism rs17084492 - WAS P42768 VAR_005823 p.Leu27Phe Disease - Thrombocytopenia type 1 (THC1) [MIM:313900] WAS P42768 VAR_005825 p.Glu31Lys Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005826 p.Thr48Ile Disease - Thrombocytopenia type 1 (THC1) [MIM:313900] WAS P42768 VAR_005827 p.Ala56Val Disease - Thrombocytopenia type 1 (THC1) [MIM:313900] WAS P42768 VAR_005828 p.Val75Met Disease - Thrombocytopenia type 1 (THC1) [MIM:313900] WAS P42768 VAR_005829 p.Ser82Pro Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005830 p.Arg86His Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005831 p.Arg86Leu Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005832 p.Arg86Cys Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005833 p.Trp97Cys Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005834 p.Glu131Lys Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005835 p.Glu133Lys Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005836 p.Gly187Cys Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005837 p.Ala236Glu Disease - Thrombocytopenia type 1 (THC1) [MIM:313900] WAS P42768 VAR_005838 p.Lys476Glu Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_005839 p.Arg477Lys Disease - Thrombocytopenia type 1 (THC1) [MIM:313900] WAS P42768 VAR_008105 p.Cys43Trp Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_008106 p.Thr45Met Disease - Thrombocytopenia type 1 (THC1) [MIM:313900] WAS P42768 VAR_008106 p.Thr45Met Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_008107 p.Cys73Arg Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_008108 p.Tyr83Cys Disease - Thrombocytopenia type 1 (THC1) [MIM:313900] WAS P42768 VAR_008109 p.Phe84Leu Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_008110 p.Gly89Asp Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_012710 p.Gln52His Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_012711 p.Gly70Trp Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_022806 p.Pro58Leu Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_022807 p.Ala134Thr Disease - Wiskott-Aldrich syndrome (WAS) [MIM:301000] WAS P42768 VAR_033255 p.Pro58Arg Disease rs28935178 Thrombocytopenia type 1 (THC1) [MIM:313900] WAS P42768 VAR_033256 p.Leu270Pro Disease rs28936079 Neutropenia severe congenital X-linked (XLN) [MIM:300299] WAS P42768 VAR_033257 p.Ile481Asn Disease - Thrombocytopenia type 1 (THC1) [MIM:313900] WBP1L Q9NX94 VAR_026839 p.Ser302Pro Polymorphism rs284860 - WBP1L Q9NX94 VAR_026840 p.Ala320Ser Polymorphism rs284859 - WBP2NL Q6ICG8 VAR_032578 p.Gln5Glu Polymorphism rs17002790 - WBP2NL Q6ICG8 VAR_032579 p.Asp121Gly Polymorphism rs133335 - WBP2NL Q6ICG8 VAR_032580 p.Cys170Phe Polymorphism rs17002802 - WBP2NL Q6ICG8 VAR_032581 p.Gln285His Polymorphism rs2301521 - WBP4 O75554 VAR_036352 p.Lys113Arg Unclassified - A breast cancer sample WBP7 Q9UMN6 VAR_046563 p.Pro587Arg Polymorphism rs2242519 - WBP7 Q9UMN6 VAR_046564 p.Pro754Leu Polymorphism rs179686 - WBP7 Q9UMN6 VAR_046565 p.Pro1097Leu Polymorphism rs34014681 - WBP7 Q9UMN6 VAR_052653 p.Pro1829Leu Polymorphism rs16970649 - WBP7 Q9UMN6 VAR_052654 p.Asp2364Gly Polymorphism rs231591 - WBP7 Q9UMN6 VAR_052655 p.Lys2408Asn Polymorphism rs36062432 - WBP7 Q9UMN6 VAR_061913 p.Thr172Ile Polymorphism rs60207923 - WBSCR16 Q96I51 VAR_027972 p.Arg30Gly Polymorphism rs6955671 - WBSCR27 Q8N6F8 VAR_060385 p.Gln107Arg Polymorphism rs13241921 - WBSCR27 Q8N6F8 VAR_060386 p.Ser171Trp Polymorphism rs13232463 - WBSCR28 Q6UE05 VAR_036813 p.Ile14Asn Polymorphism rs11770052 - WBSCR28 Q6UE05 VAR_036814 p.Ala70Asp Polymorphism rs17852792 - WBSCR28 Q6UE05 VAR_036815 p.Trp78Arg Polymorphism rs13227841 - WBSCR28 Q6UE05 VAR_061720 p.Gly67Val Polymorphism rs56933025 - WDFY3 Q8IZQ1 VAR_026864 p.Ile3032Val Polymorphism rs17368018 - WDFY4 Q6ZS81 VAR_027684 p.Ser214Pro Polymorphism rs7072606 - WDFY4 Q6ZS81 VAR_027685 p.Ser944Phe Polymorphism rs12242384 - WDFY4 Q6ZS81 VAR_047261 p.Ser2527Asn Polymorphism rs2663046 - WDHD1 O75717 VAR_053422 p.Phe338Leu Polymorphism rs8020032 - WDHD1 O75717 VAR_053423 p.Leu411Pro Polymorphism rs17128116 - WDHD1 O75717 VAR_062100 p.Glu1102Lys Polymorphism rs41309252 - WDPCP O95876 VAR_039919 p.Gly268Ser Polymorphism rs17617459 - WDPCP O95876 VAR_064770 p.Arg55Lys Unclassified - - WDPCP O95876 VAR_064771 p.Leu205Phe Unclassified - - WDPCP O95876 VAR_064772 p.Ser708Phe Polymorphism - - WDR12 Q9GZL7 VAR_012863 p.Met72Val Polymorphism - - WDR12 Q9GZL7 VAR_012864 p.Tyr89Cys Polymorphism - - WDR12 Q9GZL7 VAR_012865 p.Glu286Gly Polymorphism - - WDR12 Q9GZL7 VAR_054888 p.Ile75Val Polymorphism rs35212307 - WDR13 Q9H1Z4 VAR_060284 p.His325Arg Polymorphism rs235842 - WDR16 Q8N1V2 VAR_026057 p.Glu336Lys Polymorphism rs6503235 - WDR17 Q8IZU2 VAR_047399 p.Ala814Thr Polymorphism rs4690661 - WDR17 Q8IZU2 VAR_047400 p.Cys913Ser Polymorphism rs7693453 - WDR17 Q8IZU2 VAR_047401 p.Glu952Lys Polymorphism rs6810394 - WDR17 Q8IZU2 VAR_047402 p.Ala1215Thr Polymorphism rs17625943 - WDR17 Q8IZU2 VAR_047403 p.Ala1295Thr Polymorphism rs11736872 - WDR17 Q8IZU2 VAR_062101 p.Ile418Val Polymorphism rs59567138 - WDR18 Q9BV38 VAR_031577 p.Ala172Thr Polymorphism rs2158367 - WDR18 Q9BV38 VAR_031578 p.Leu213Phe Polymorphism rs35068100 - WDR18 Q9BV38 VAR_031579 p.Val264Ile Polymorphism rs11538683 - WDR19 Q8NEZ3 VAR_053424 p.Gly1084Ser Polymorphism rs16995209 - WDR1 O75083 VAR_013445 p.Ile185Val Polymorphism rs13441 - WDR20 Q8TBZ3 VAR_031580 p.Pro159His Polymorphism rs17852545 - WDR20 Q8TBZ3 VAR_053425 p.Gly444Cys Polymorphism rs12888595 - WDR25 Q64LD2 VAR_028888 p.Trp88Arg Polymorphism rs2181170 - WDR25 Q64LD2 VAR_028889 p.His149Arg Polymorphism rs2273800 - WDR25 Q64LD2 VAR_060042 p.Lys59Arg Polymorphism rs2273801 - WDR25 Q64LD2 VAR_060043 p.Thr119Met Polymorphism rs34331240 - WDR27 A2RRH5 VAR_035317 p.Leu133Pro Polymorphism rs4236176 - WDR27 A2RRH5 VAR_035318 p.Val393Leu Polymorphism rs35895089 - WDR27 A2RRH5 VAR_035319 p.Arg437His Polymorphism rs3800544 - WDR27 A2RRH5 VAR_035320 p.Pro470Leu Polymorphism rs34313252 - WDR27 A2RRH5 VAR_035321 p.Ala697Val Polymorphism rs9396946 - WDR31 Q8NA23 VAR_053426 p.Pro113Ser Polymorphism rs10817479 - WDR33 Q9C0J8 VAR_046717 p.Ala33Ser Polymorphism rs11557686 - WDR33 Q9C0J8 VAR_053427 p.Pro711Arg Polymorphism rs12615078 - WDR35 Q9P2L0 VAR_053428 p.Gln18Arg Polymorphism rs1060742 - WDR35 Q9P2L0 VAR_053429 p.Glu983Gly Polymorphism rs1191778 - WDR35 Q9P2L0 VAR_062102 p.Ala878Pro Polymorphism rs2293669 - WDR35 Q9P2L0 VAR_062103 p.Ala878Thr Polymorphism rs2293669 - WDR35 Q9P2L0 VAR_064581 p.Glu626Gly Disease - Cranioectodermal dysplasia type 2 (CED2) [MIM:613610] WDR35 Q9P2L0 VAR_064582 p.Ala875Thr Disease - Cranioectodermal dysplasia type 2 (CED2) [MIM:613610] WDR36 Q8NI36 VAR_024700 p.Ile264Val Polymorphism rs11241095 - WDR36 Q8NI36 VAR_025963 p.Leu25Pro Unclassified - - WDR36 Q8NI36 VAR_025964 p.Ala163Val Unclassified - - WDR36 Q8NI36 VAR_025965 p.Tyr216Pro Unclassified - - WDR36 Q8NI36 VAR_025966 p.Asn355Ser Disease - Primary open angle glaucoma type 1G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_025967 p.Ala449Thr Disease rs35703638 Primary open angle glaucoma type 1G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_025968 p.Arg529Gln Disease - Primary open angle glaucoma type 1G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_025969 p.Asp658Gly Disease rs34595252 Primary open angle glaucoma type 1G (GLC1G) [MIM:609887] WDR36 Q8NI36 VAR_025970 p.Met671Val Polymorphism rs11956837 - WDR36 Q8NI36 VAR_053430 p.Glu454Gln Polymorphism rs17623803 - WDR37 Q9Y2I8 VAR_025432 p.Ile225Val Polymorphism rs2306407 - WDR38 Q5JTN6 VAR_053431 p.His172Arg Polymorphism rs2274970 - WDR38 Q5JTN6 VAR_053432 p.Ala193Gly Polymorphism rs10760381 - WDR3 Q9UNX4 VAR_033809 p.Pro234Ala Polymorphism rs3738420 - WDR41 Q9HAD4 VAR_023777 p.Val329Ile Polymorphism rs33204 - WDR41 Q9HAD4 VAR_031215 p.Gly61Asp Polymorphism rs389319 - WDR41 Q9HAD4 VAR_031216 p.Arg260Cys Polymorphism rs17751013 - WDR44 Q5JSH3 VAR_029538 p.Ala289Thr Polymorphism rs17271416 - WDR44 Q5JSH3 VAR_029539 p.Thr296Ala Polymorphism rs17855531 - WDR46 O15213 VAR_022025 p.Val341Ala Polymorphism rs14398 - WDR46 O15213 VAR_053433 p.Thr94Ala Polymorphism rs3130257 - WDR46 O15213 VAR_053434 p.Ser124Tyr Polymorphism rs34704405 - WDR49 Q8IV35 VAR_027858 p.Leu651Pro Polymorphism rs13060964 - WDR49 Q8IV35 VAR_035889 p.Arg10His Unclassified - A colorectal cancer sample WDR4 P57081 VAR_020120 p.Lys71Asn Polymorphism rs2248490 - WDR4 P57081 VAR_033121 p.Pro266Ser Polymorphism rs15736 - WDR4 P57081 VAR_033122 p.Arg390Gln Polymorphism rs6586250 - WDR52 Q96MT7 VAR_053435 p.Lys284Asn Polymorphism rs16845107 - WDR52 Q96MT7 VAR_062105 p.Lys53Glu Polymorphism rs59722850 - WDR53 Q7Z5U6 VAR_033810 p.His338Pro Polymorphism rs1048032 - WDR53 Q7Z5U6 VAR_035890 p.Ser60Cys Unclassified - A breast cancer sample WDR55 Q9H6Y2 VAR_037056 p.Arg50Cys Polymorphism rs34342435 - WDR55 Q9H6Y2 VAR_037057 p.Cys151Arg Polymorphism rs2530245 - WDR55 Q9H6Y2 VAR_037058 p.Ser210Phe Polymorphism rs2286394 - WDR55 Q9H6Y2 VAR_037059 p.Tyr235Cys Polymorphism rs35983033 - WDR59 Q6PJI9 VAR_053436 p.Pro201Thr Polymorphism rs11557260 - WDR60 Q8WVS4 VAR_026841 p.Glu91Gly Polymorphism rs17837851 - WDR60 Q8WVS4 VAR_026842 p.Gln273Arg Polymorphism rs2788478 - WDR62 O43379 VAR_031299 p.Leu850Ser Polymorphism rs2285745 - WDR62 O43379 VAR_031300 p.Gly1370Ser Polymorphism rs17851503 - WDR62 O43379 VAR_031301 p.Leu1385Phe Polymorphism rs1008328 - WDR62 O43379 VAR_055014 p.Lys289Arg Polymorphism rs12327568 - WDR62 O43379 VAR_055015 p.Gln1305Leu Polymorphism rs2074435 - WDR62 O43379 VAR_057629 p.Gln1311Glu Polymorphism rs35811023 - WDR62 O43379 VAR_063702 p.Trp224Ser Disease - Microcephaly primary type 2 (MCPH2) [MIM:604317] WDR62 O43379 VAR_063703 p.Glu526Lys Disease - Microcephaly primary type 2 (MCPH2) [MIM:604317] WDR63 Q8IWG1 VAR_057630 p.Thr674Ala Polymorphism rs17121745 - WDR63 Q8IWG1 VAR_057631 p.Arg798His Polymorphism rs709783 - WDR64 B1ANS9 VAR_043138 p.Arg647Gln Polymorphism rs12095445 - WDR64 B1ANS9 VAR_043139 p.Arg952Trp Polymorphism rs12074374 - WDR65 Q96MR6 VAR_026850 p.Ala183Ser Polymorphism rs6663799 - WDR65 Q96MR6 VAR_026851 p.Asn241Asp Polymorphism rs663824 - WDR65 Q96MR6 VAR_026852 p.Cys345Ser Polymorphism rs11210805 - WDR66 Q8TBY9 VAR_034623 p.Glu61Gly Polymorphism rs12824001 - WDR66 Q8TBY9 VAR_034624 p.Thr383Met Polymorphism rs34768683 - WDR66 Q8TBY9 VAR_034625 p.Leu445Phe Polymorphism rs11043265 - WDR66 Q8TBY9 VAR_060044 p.Gly66Glu Polymorphism rs12824001 - WDR67 Q96DN5 VAR_027960 p.Arg414His Polymorphism rs16897967 - WDR67 Q96DN5 VAR_027961 p.Val709Phe Polymorphism rs16898023 - WDR67 Q96DN5 VAR_057632 p.Ala1065Thr Polymorphism rs34994118 - WDR69 Q8N136 VAR_026853 p.Thr27Ile Polymorphism rs11894733 - WDR69 Q8N136 VAR_026854 p.Thr121Ser Polymorphism rs1715828 - WDR69 Q8N136 VAR_033811 p.Gly259Ser Polymorphism rs35027781 - WDR69 Q8N136 VAR_033812 p.Leu317Phe Polymorphism rs35395984 - WDR69 Q8N136 VAR_035891 p.Thr129Met Unclassified - A breast cancer sample WDR72 Q3MJ13 VAR_026837 p.Leu819Phe Polymorphism rs17730281 - WDR72 Q3MJ13 VAR_026838 p.Ser833Ala Polymorphism rs16966320 - WDR72 Q3MJ13 VAR_057633 p.Lys399Gln Polymorphism rs35258188 - WDR72 Q3MJ13 VAR_057634 p.Gln479His Polymorphism rs34123953 - WDR72 Q3MJ13 VAR_060045 p.Met100Val Polymorphism rs690346 - WDR72 Q3MJ13 VAR_062106 p.Lys781Glu Polymorphism rs60404950 - WDR73 Q6P4I2 VAR_035399 p.Arg249His Polymorphism rs11073619 - WDR76 Q9H967 VAR_026862 p.Ser153Ala Polymorphism rs678084 - WDR76 Q9H967 VAR_026863 p.Ser614Gly Polymorphism rs3742985 - WDR77 Q9BQA1 VAR_042903 p.Ser48Ile Polymorphism rs7416672 - WDR78 Q5VTH9 VAR_057635 p.Gly16Ala Polymorphism rs1886686 - WDR78 Q5VTH9 VAR_057636 p.Cys33Trp Polymorphism rs3008858 - WDR78 Q5VTH9 VAR_057637 p.Arg832Gln Polymorphism rs482082 - WDR81 Q562E7 VAR_062107 p.Met1535Val Polymorphism rs3809870 - WDR83OS Q9Y284 VAR_052498 p.Pro104Ala Polymorphism rs3209404 - WDR83 Q9BRX9 VAR_053410 p.Gly278Ser Polymorphism rs34373915 - WDR83 Q9BRX9 VAR_053411 p.Arg304Gln Polymorphism rs35092999 - WDR85 Q9BTV6 VAR_053437 p.Gly158Arg Polymorphism rs821314 - WDR86 Q86TI4 VAR_063633 p.Met355Thr Polymorphism rs4141455 - WDR87 Q6ZQQ6 VAR_057638 p.His496Tyr Polymorphism rs12104280 - WDR87 Q6ZQQ6 VAR_057639 p.Arg1583Gln Polymorphism rs6508750 - WDR87 Q6ZQQ6 VAR_057640 p.Asn1885Lys Polymorphism rs10422056 - WDR87 Q6ZQQ6 VAR_057641 p.His2570Leu Polymorphism rs10408510 - WDR88 Q6ZMY6 VAR_032030 p.Cys310Arg Polymorphism rs11881580 - WDR88 Q6ZMY6 VAR_035892 p.Asp166His Unclassified - A breast cancer sample WDR90 Q96KV7 VAR_044060 p.Ser165Thr Polymorphism rs13337278 - WDR90 Q96KV7 VAR_044061 p.Pro250Leu Polymorphism rs11642546 - WDR90 Q96KV7 VAR_044062 p.Val537Ala Polymorphism rs3803697 - WDR90 Q96KV7 VAR_044063 p.Pro1001Thr Polymorphism rs4984906 - WDR90 Q96KV7 VAR_044064 p.Arg1492His Polymorphism rs7190775 - WDR90 Q96KV7 VAR_044065 p.Cys1555Arg Polymorphism rs11866949 - WDR91 A4D1P6 VAR_033358 p.Pro257Leu Polymorphism rs292592 - WDR92 Q96MX6 VAR_053438 p.Met241Val Polymorphism rs13009282 - WDR93 Q6P2C0 VAR_039017 p.Leu66His Polymorphism rs4287542 - WDR93 Q6P2C0 VAR_039018 p.Ser254Thr Polymorphism rs7163367 - WDR93 Q6P2C0 VAR_039019 p.Thr352Met Polymorphism rs7178234 - WDR96 Q8NDM7 VAR_037130 p.Ile393Thr Polymorphism rs10883979 - WDR96 Q8NDM7 VAR_037131 p.Leu616Phe Polymorphism rs35901897 - WDR96 Q8NDM7 VAR_037132 p.Val634Ile Polymorphism rs17116635 - WDR96 Q8NDM7 VAR_037133 p.Ala835Ser Polymorphism rs12262825 - WDSUB1 Q8N9V3 VAR_030791 p.Lys215Thr Polymorphism rs16843852 - WDSUB1 Q8N9V3 VAR_030792 p.His223Asp Polymorphism rs17852677 - WDSUB1 Q8N9V3 VAR_030793 p.Arg320Ser Polymorphism rs7591849 - WDYHV1 Q96HA8 VAR_030882 p.Ile32Val Polymorphism rs6999234 - WDYHV1 Q96HA8 VAR_030883 p.Asn93Ser Polymorphism rs7014678 - WDYHV1 Q96HA8 VAR_030884 p.Phe116Ile Polymorphism rs6470147 - WDYHV1 Q96HA8 VAR_030885 p.Arg134Cys Polymorphism rs3824250 - WEE1 P30291 VAR_041302 p.Gly210Cys Polymorphism rs34412975 - WEE1 P30291 VAR_041303 p.Ser472Ile Polymorphism rs56411856 - WEE2 P0C1S8 VAR_041304 p.Lys8Thr Polymorphism rs35672788 - WEE2 P0C1S8 VAR_041305 p.Asn332Lys Unclassified - A gastric adenocarcinoma sample WEE2 P0C1S8 VAR_041306 p.Arg398His Unclassified - An ovarian mucinous carcinoma sample WEE2 P0C1S8 VAR_041307 p.Asp470Glu Polymorphism rs55901099 - WEE2 P0C1S8 VAR_041308 p.Tyr526Asp Polymorphism rs35683659 - WFDC10B Q8IUB3 VAR_052952 p.Leu8Pro Polymorphism rs232729 - WFDC1 Q9HC57 VAR_036489 p.Val138Met Unclassified rs11643870 A breast cancer sample WFDC1 Q9HC57 VAR_052948 p.Leu196Val Polymorphism rs35504166 - WFDC1 Q9HC57 VAR_052949 p.Lys217Arg Polymorphism rs12933084 - WFDC3 Q8IUB2 VAR_052951 p.His36Asp Polymorphism rs6032538 - WFDC3 Q8IUB2 VAR_059962 p.Gly198Ser Polymorphism rs6073907 - WFDC5 Q8TCV5 VAR_057474 p.His97Tyr Polymorphism rs17422688 - WFDC8 Q8IUA0 VAR_021910 p.Met96Thr Polymorphism rs2272955 - WFDC8 Q8IUA0 VAR_030861 p.Asn137Ser Polymorphism rs2250860 - WFDC9 Q8NEX5 VAR_021911 p.Asn27Thr Polymorphism rs2245898 - WFIKKN2 Q8TEU8 VAR_036692 p.Val96Met Polymorphism rs35300894 - WFIKKN2 Q8TEU8 VAR_061984 p.Arg31Gln Polymorphism rs55700534 - WFS1 O76024 VAR_005840 p.Val333Ile Polymorphism rs1801212 - WFS1 O76024 VAR_005841 p.Arg456His Polymorphism rs1801208 - WFS1 O76024 VAR_005842 p.Pro504Leu Disease rs28937892 Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_005843 p.Arg611His Polymorphism rs734312 - WFS1 O76024 VAR_005844 p.Gly695Val Disease rs28937891 Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_005845 p.Pro724Leu Disease rs28937890 Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009109 p.Glu169Lys Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009110 p.Pro292Ser Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009111 p.Ile296Ser Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009114 p.Gly437Arg Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009116 p.Cys690Arg Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009117 p.Trp700Cys Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009118 p.Gly736Ser Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_009119 p.Pro885Leu Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_010602 p.Ala559Thr Polymorphism rs55814513 - WFS1 O76024 VAR_010603 p.Gly576Ser Polymorphism rs1805069 - WFS1 O76024 VAR_010604 p.Ile720Val Polymorphism rs1805070 - WFS1 O76024 VAR_011305 p.Ala58Val Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_011306 p.Ala126Thr Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_011308 p.Ser443Ile Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_011309 p.Gly674Arg Polymorphism - - WFS1 O76024 VAR_011310 p.Ala684Val Disease - Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] WFS1 O76024 VAR_011311 p.Arg708Cys Polymorphism - - WFS1 O76024 VAR_011312 p.Glu737Lys Polymorphism - - WFS1 O76024 VAR_011313 p.Gly780Arg Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_011314 p.Arg818Cys Disease rs35932623 Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_014034 p.Ala133Thr Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_014037 p.Arg653Cys Unclassified - - WFS1 O76024 VAR_014038 p.Tyr669Cys Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_014995 p.Lys193Gln Polymorphism rs41264699 - WFS1 O76024 VAR_014996 p.Val871Met Polymorphism - - WFS1 O76024 VAR_024554 p.Ala602Val Polymorphism rs2230720 - WFS1 O76024 VAR_029499 p.Tyr110Asn Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_029500 p.Ala326Val Polymorphism - - WFS1 O76024 VAR_029502 p.Arg457Ser Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_029505 p.Arg629Trp Disease - Wolfram syndrome type 1 (WFS1) [MIM:222300] WFS1 O76024 VAR_029506 p.Ile802Val Polymorphism - - WFS1 O76024 VAR_032791 p.Pro16Leu Polymorphism rs34653805 - WFS1 O76024 VAR_032962 p.Gly107Arg Polymorphism - - WFS1 O76024 VAR_032963 p.Lys634Thr Disease - Deafness autosomal dominant type 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032964 p.Thr699Met Disease rs28937894 Deafness autosomal dominant type 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032965 p.Ala716Thr Disease rs28937893 Deafness autosomal dominant type 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032966 p.Val779Met Disease - Deafness autosomal dominant type 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032967 p.Leu829Pro Disease - Deafness autosomal dominant type 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032968 p.Gly831Asp Disease rs28937895 Deafness autosomal dominant type 6 (DFNA6) [MIM:600965] WFS1 O76024 VAR_032969 p.Glu864Lys Disease - Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] WHAMM Q8TF30 VAR_033209 p.Gln340Lys Polymorphism rs1055666 - WHAMM Q8TF30 VAR_033210 p.Arg345Gln Polymorphism rs1055667 - WHAMM Q8TF30 VAR_033211 p.Arg686His Polymorphism rs3814281 - WHAMM Q8TF30 VAR_051489 p.His736Pro Polymorphism rs11259953 - WHAMM Q8TF30 VAR_051490 p.His736Gln Polymorphism rs11259954 - WHAMM Q8TF30 VAR_061721 p.Asn212Ser Polymorphism rs35270670 - WHSC1L1 Q9BZ95 VAR_028950 p.Arg383Pro Polymorphism rs2234552 - WHSC1L1 Q9BZ95 VAR_061215 p.Thr186Met Polymorphism rs13034 - WIBG Q9BRP8 VAR_032297 p.Glu66Gln Polymorphism rs3802998 - WIPF1 O43516 VAR_010295 p.Ala495Gly Polymorphism - - WIPF1 O43516 VAR_046526 p.Pro198Leu Polymorphism rs4972450 - WIPF3 A6NGB9 VAR_043729 p.Glu321Gly Polymorphism rs3750092 - WIPI1 Q5MNZ9 VAR_024848 p.Thr31Ile Polymorphism rs883541 - WIPI1 Q5MNZ9 VAR_053439 p.Arg308His Polymorphism rs36084378 - WISP1 O95388 VAR_061265 p.Ala205Ser Polymorphism rs35513885 - WISP2 O76076 VAR_049566 p.Arg59Gln Polymorphism rs33932543 - WISP3 O95389 VAR_016224 p.Gln56His Polymorphism rs1230345 - WISP3 O95389 VAR_016225 p.Cys78Arg Disease - Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230] WISP3 O95389 VAR_049567 p.Arg60Cys Polymorphism rs17073260 - WLS Q5T9L3 VAR_029991 p.Val465Ile Polymorphism rs983034 - WNK1 Q9H4A3 VAR_019992 p.Thr665Ile Polymorphism rs2286007 - WNK1 Q9H4A3 VAR_035640 p.Glu1199Gly Unclassified - A colorectal cancer sample WNK1 Q9H4A3 VAR_035641 p.Gln1799Glu Unclassified - Breast cancer samples WNK1 Q9H4A3 VAR_041309 p.Ala141Thr Polymorphism rs11554421 - WNK1 Q9H4A3 VAR_041310 p.Ala149Val Polymorphism rs34880640 - WNK1 Q9H4A3 VAR_041311 p.Glu419Gln Unclassified - A breast pleomorphic lobular carcinoma sample WNK1 Q9H4A3 VAR_041312 p.Ile509Thr Polymorphism rs34728563 - WNK1 Q9H4A3 VAR_041313 p.Asp527Gly Polymorphism rs34408667 - WNK1 Q9H4A3 VAR_041314 p.Thr674Ala Polymorphism rs11833299 - WNK1 Q9H4A3 VAR_041315 p.His823Arg Polymorphism rs56015776 - WNK1 Q9H4A3 VAR_041316 p.Ala1546Val Polymorphism rs56351358 - WNK1 Q9H4A3 VAR_041317 p.Met1808Ile Polymorphism rs12828016 - WNK1 Q9H4A3 VAR_041318 p.Pro1823Leu Polymorphism rs17755373 - WNK1 Q9H4A3 VAR_041319 p.Arg1957His Polymorphism rs36083875 - WNK1 Q9H4A3 VAR_041320 p.Ser2190Cys Unclassified - A breast pleomorphic lobular carcinoma sample WNK1 Q9H4A3 VAR_041321 p.Phe2362Leu Unclassified - A lung adenocarcinoma sample WNK1 Q9H4A3 VAR_041322 p.Arg2380Trp Polymorphism rs56262445 - WNK1 Q9H4A3 VAR_059033 p.Thr1056Pro Polymorphism rs956868 - WNK1 Q9H4A3 VAR_059034 p.Cys1506Ser Polymorphism rs7955371 - WNK2 Q9Y3S1 VAR_057114 p.Val828Met Polymorphism rs10761203 - WNK2 Q9Y3S1 VAR_059773 p.Arg974Leu Polymorphism rs10114908 - WNK3 Q9BYP7 VAR_041323 p.Gln704His Polymorphism rs56077971 - WNK3 Q9BYP7 VAR_041324 p.Ser854Cys Unclassified - A lung squamous cell carcinoma sample WNK3 Q9BYP7 VAR_041325 p.Ala998Thr Polymorphism rs56404148 - WNK3 Q9BYP7 VAR_041326 p.Lys1169Glu Polymorphism rs55903619 - WNK3 Q9BYP7 VAR_041327 p.Thr1375Ile Polymorphism rs55879434 - WNK3 Q9BYP7 VAR_041328 p.Leu1533Phe Unclassified - A lung large cell carcinoma sample WNK3 Q9BYP7 VAR_041329 p.Ser1634Pro Unclassified - A renal clear cell carcinoma sample WNK4 Q96J92 VAR_017588 p.Glu562Lys Disease - Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491] WNK4 Q96J92 VAR_017589 p.Asp564Ala Disease - Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491] WNK4 Q96J92 VAR_017590 p.Gln565Glu Disease - Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491] WNK4 Q96J92 VAR_017591 p.Arg1185Cys Disease - Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491] WNK4 Q96J92 VAR_041330 p.Glu434Asp Unclassified - An ovarian mucinous carcinoma sample WNK4 Q96J92 VAR_041331 p.Pro813Leu Polymorphism - - WNK4 Q96J92 VAR_041332 p.Pro992Ser Unclassified - A metastatic melanoma sample WNK4 Q96J92 VAR_041333 p.Leu1013Pro Polymorphism - - WNK4 Q96J92 VAR_051685 p.Arg677Trp Polymorphism rs9896991 - WNK4 Q96J92 VAR_051686 p.Pro961Ser Polymorphism rs2290041 - WNK4 Q96J92 VAR_061748 p.Ala601Ser Polymorphism rs55781437 - WNT10A Q9GZT5 VAR_013239 p.Pro302Thr Polymorphism rs1057306 - WNT10A Q9GZT5 VAR_062510 p.Arg128Gln Disease - Odonto-onycho-dermal dysplasia (OODD) [MIM:257980] WNT10A Q9GZT5 VAR_062511 p.Phe228Ile Disease - Odonto-onycho-dermal dysplasia (OODD) [MIM:257980] WNT10A Q9GZT5 VAR_064837 p.His143Tyr Disease - - WNT10A Q9GZT5 VAR_064838 p.Val145Met Disease - - WNT10A Q9GZT5 VAR_064839 p.Arg360Cys Disease - - WNT10B O00744 VAR_062512 p.His77Tyr Polymorphism - - WNT10B O00744 VAR_062513 p.Cys256Tyr Unclassified - - WNT10B O00744 VAR_062514 p.Ile285Thr Polymorphism - - WNT10B O00744 VAR_062515 p.Pro301Ser Polymorphism - - WNT10B O00744 VAR_062516 p.Arg332Trp Disease - Split-hand/foot malformation type 6 (SHFM6) [MIM:225300] WNT16 Q9UBV4 VAR_036289 p.Val126Met Unclassified - A colorectal cancer sample WNT16 Q9UBV4 VAR_052957 p.Gly82Arg Polymorphism rs2908004 - WNT16 Q9UBV4 VAR_052958 p.Thr263Ile Polymorphism rs2707466 - WNT2 P09544 VAR_013865 p.Leu5Arg Polymorphism - - WNT2 P09544 VAR_013866 p.Arg299Trp Polymorphism - - WNT2 P09544 VAR_052954 p.Cys294Phe Polymorphism rs1051751 - WNT4 P56705 VAR_034703 p.Glu216Gly Disease - Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000] WNT4 P56705 VAR_043497 p.Leu12Pro Disease - Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000] WNT4 P56705 VAR_043498 p.Arg83Cys Disease - Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000] WNT4 P56705 VAR_043499 p.Ala114Val Disease - Female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812] WNT4 P56705 VAR_052955 p.Pro277Leu Polymorphism rs34228276 - WNT7A O00755 VAR_030673 p.Ala109Thr Disease - Fuhrmann syndrome (FUHRS) [MIM:228930] WNT7A O00755 VAR_030674 p.Arg292Cys Disease - Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] WNT7A O00755 VAR_064480 p.Arg222Trp Disease - Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] WNT7A O00755 VAR_065765 p.Glu72Lys Disease - Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] WNT8B Q93098 VAR_020310 p.Cys11Ser Polymorphism rs3793771 - WNT8B Q93098 VAR_036288 p.Glu53Gln Unclassified - A colorectal cancer sample WNT9A O14904 VAR_052956 p.Ala260Thr Polymorphism rs8192633 - WNT9B O14905 VAR_030839 p.Met106Thr Polymorphism rs4968281 - WRAP53 Q9BUR4 VAR_026865 p.Pro11Ser Polymorphism rs17880282 - WRAP53 Q9BUR4 VAR_026866 p.Arg68Gly Polymorphism rs2287499 - WRAP53 Q9BUR4 VAR_026867 p.Ala522Gly Polymorphism rs7640 - WRAP53 Q9BUR4 VAR_057618 p.Pro136Arg Polymorphism rs34067256 - WRAP53 Q9BUR4 VAR_057619 p.Asn187Thr Polymorphism rs35762939 - WRAP53 Q9BUR4 VAR_057620 p.Glu494Gln Polymorphism rs35123152 - WRAP73 Q9P2S5 VAR_057624 p.Ile331Met Polymorphism rs2760320 - WRAP73 Q9P2S5 VAR_057625 p.Val358Ile Polymorphism rs16823940 - WRB O00258 VAR_051491 p.Val110Ile Polymorphism rs35946782 - WRN Q14191 VAR_006904 p.Thr324Ala Polymorphism rs1800390 - WRN Q14191 VAR_006905 p.Met387Ile Polymorphism rs1800391 - WRN Q14191 VAR_006906 p.Cys1367Arg Polymorphism rs1346044 - WRN Q14191 VAR_007903 p.Leu1074Phe Polymorphism rs1801195 - WRN Q14191 VAR_014913 p.Arg834Cys Polymorphism rs3087425 - WRN Q14191 VAR_014914 p.Ser1079Leu Polymorphism rs3087414 - WRN Q14191 VAR_017453 p.Lys32Arg Polymorphism rs34477820 - WRN Q14191 VAR_017454 p.Val114Ile Polymorphism rs2230009 - WRN Q14191 VAR_017455 p.Thr172Pro Unclassified - - WRN Q14191 VAR_017456 p.Asn240Lys Polymorphism - - WRN Q14191 VAR_017457 p.Leu383Trp Polymorphism - - WRN Q14191 VAR_017458 p.Gln724Leu Polymorphism - - WRN Q14191 VAR_017459 p.Lys1269Glu Polymorphism - - WRN Q14191 VAR_018941 p.Glu343Lys Polymorphism rs11574222 - WRN Q14191 VAR_018942 p.Asn533Ser Polymorphism rs11574240 - WRN Q14191 VAR_018943 p.Ser612Cys Polymorphism rs11574250 - WRN Q14191 VAR_018944 p.Ser708Phe Polymorphism rs11574289 - WRN Q14191 VAR_018945 p.Ile912Ser Polymorphism rs11574323 - WRN Q14191 VAR_018946 p.Ser1133Ala Polymorphism rs11574358 - WRN Q14191 VAR_018947 p.Val1339Ile Polymorphism rs11574395 - WRN Q14191 VAR_020450 p.Gln329Arg Polymorphism rs4987237 - WRN Q14191 VAR_020451 p.Leu383Phe Polymorphism rs4987238 - WRN Q14191 VAR_026588 p.Lys125Asn Disease - Werner syndrome (WRN) [MIM:277700] WRN Q14191 VAR_026589 p.Lys135Glu Disease - Werner syndrome (WRN) [MIM:277700] WRN Q14191 VAR_036318 p.Gly92Val Unclassified - A colorectal cancer sample WRN Q14191 VAR_054162 p.Ser1141Leu Polymorphism - - WRN Q14191 VAR_057124 p.Arg711Trp Polymorphism rs34560788 - WSB1 Q9Y6I7 VAR_024701 p.Leu16Ser Polymorphism rs9303634 - WSCD1 Q658N2 VAR_035160 p.His212Tyr Polymorphism rs17855415 - WSCD2 Q2TBF2 VAR_035161 p.Thr266Ile Polymorphism rs3764002 - WT1-AS Q06250 VAR_014631 p.Ala13Thr Polymorphism rs6508 - WT1-AS Q06250 VAR_034563 p.Gly66Ala Polymorphism rs3087923 - WT1 P19544 VAR_007739 p.Pro181Ser Disease rs2234584 Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007740 p.Ser223Asn Disease - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007741 p.Gly253Ala Disease - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007742 p.Ser273Gly Polymorphism rs121907908 - WT1 P19544 VAR_007743 p.Cys330Tyr Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007744 p.Cys360Gly Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007745 p.Arg366Cys Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007745 p.Arg366Cys Disease - Meacham syndrome (MEACHS) [MIM:608978] WT1 P19544 VAR_007745 p.Arg366Cys Disease - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007746 p.Arg366His Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007746 p.Arg366His Disease - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007747 p.His373Gln Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007747 p.His373Gln Disease - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007748 p.His377Tyr Disease - Nephrotic syndrome type 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_007749 p.Phe383Leu Disease - Nephrotic syndrome type 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_007750 p.Arg394Trp Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007750 p.Arg394Trp Disease - Meacham syndrome (MEACHS) [MIM:608978] WT1 P19544 VAR_007750 p.Arg394Trp Disease - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_007751 p.Asp396Asn Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_007751 p.Asp396Asn Disease - Nephrotic syndrome type 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_007752 p.Asp396Gly Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015053 p.Arg312Gln Disease - Nephrotic syndrome type 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_015054 p.Met342Arg Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015055 p.Cys355Tyr Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015056 p.His373Tyr Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015057 p.His377Arg Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015058 p.Cys385Arg Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015059 p.Cys388Phe Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015060 p.Phe392Leu Disease - Frasier syndrome (FS) [MIM:136680] WT1 P19544 VAR_015061 p.Arg394Gln Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_015062 p.Leu398Pro Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043798 p.Ala131Thr Unclassified - - WT1 P19544 VAR_043799 p.Cys355Gly Disease - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_043800 p.Cys360Tyr Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043801 p.Phe364Leu Disease - Nephrotic syndrome type 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_043802 p.Arg366Leu Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043803 p.Gln369Pro Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043804 p.Gly379Cys Disease - Nephrotic syndrome type 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_043805 p.Cys388Arg Disease - Nephrotic syndrome type 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_043806 p.Cys388Tyr Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043807 p.Arg394Leu Disease - Wilms tumor 1 (WT1) [MIM:194070] WT1 P19544 VAR_043808 p.Arg394Pro Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043809 p.Asp396Tyr Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043810 p.His397Pro Disease - Nephrotic syndrome type 4 (NPHS4) [MIM:256370] WT1 P19544 VAR_043811 p.His401Tyr Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_043812 p.His405Arg Disease - Denys-Drash syndrome (DDS) [MIM:194080] WT1 P19544 VAR_058021 p.Leu281Pro Unclassified - - WTAP Q15007 VAR_036854 p.Glu84Asp Polymorphism rs35059844 - WWC1 Q8IX03 VAR_026844 p.Arg250Cys Polymorphism rs17551608 - WWC1 Q8IX03 VAR_053449 p.Met734Ile Polymorphism rs3822660 - WWC1 Q8IX03 VAR_053450 p.Ser735Ala Polymorphism rs3822659 - WWC2 Q6AWC2 VAR_036965 p.Ala773Ser Polymorphism rs11941467 - WWC2 Q6AWC2 VAR_036966 p.Val816Phe Polymorphism rs11734376 - WWC2 Q6AWC2 VAR_036967 p.Asp904His Polymorphism rs3814422 - WWC2 Q6AWC2 VAR_036968 p.Ala1189Thr Polymorphism rs4862155 - WWC2 Q6AWC2 VAR_062108 p.Arg979Cys Polymorphism rs45470696 - WWC3 Q9ULE0 VAR_036969 p.Ala495Thr Polymorphism rs5934750 - WWC3 Q9ULE0 VAR_036970 p.Tyr593Cys Polymorphism rs36076296 - WWC3 Q9ULE0 VAR_062109 p.Pro831Leu Polymorphism rs55787431 - WWOX Q9NZC7 VAR_023916 p.Pro98Leu Polymorphism - - WWOX Q9NZC7 VAR_023917 p.Thr111Ser Unclassified - A Burkitt lymphoma cell line WWOX Q9NZC7 VAR_023918 p.Arg120Trp Unclassified - A primary colorectal tumor WWOX Q9NZC7 VAR_023919 p.Ala179Thr Polymorphism rs12918952 - WWOX Q9NZC7 VAR_023920 p.Leu272Phe Polymorphism - - WWOX Q9NZC7 VAR_023921 p.Pro282Ala Polymorphism rs3764340 - WWOX Q9NZC7 VAR_023922 p.Leu291Pro Unclassified - - WWOX Q9NZC7 VAR_023923 p.Arg314His Unclassified - A cervical carcinoma cell line WWOX Q9NZC7 VAR_052323 p.Leu216Val Polymorphism rs7201683 - WWP1 Q9H0M0 VAR_052960 p.Gly852Val Polymorphism rs1059901 - XAB2 Q9HCS7 VAR_016248 p.Val126Ile Polymorphism rs4134822 - XAB2 Q9HCS7 VAR_016249 p.Arg454Gln Polymorphism rs4134850 - XAB2 Q9HCS7 VAR_016250 p.Ala702Thr Polymorphism rs4134865 - XAF1 Q6GPH4 VAR_042616 p.Glu85Gly Polymorphism rs34195599 - XAF1 Q6GPH4 VAR_042617 p.Arg132His Polymorphism rs2271232 - XAF1 Q6GPH4 VAR_042618 p.Glu188Lys Polymorphism rs34625877 - XAF1 Q6GPH4 VAR_042619 p.Arg219Ile Polymorphism rs3736433 - XBP1 P17861 VAR_033023 p.Arg232Lys Unclassified - A breast cancer sample XBP1 P17861 VAR_035998 p.Asp12Val Unclassified - A breast cancer sample XCL2 Q9UBD3 VAR_048713 p.His28Asp Polymorphism rs4301615 - XCL2 Q9UBD3 VAR_059212 p.Arg29Lys Polymorphism rs4501820 - XDH P47989 VAR_023976 p.Glu133Lys Polymorphism rs45447191 - XDH P47989 VAR_023977 p.Gly172Arg Polymorphism rs45523133 - XDH P47989 VAR_023978 p.Thr235Met Polymorphism rs45469499 - XDH P47989 VAR_023979 p.Lys395Met Polymorphism rs34929837 - XDH P47989 VAR_023980 p.Pro555Ser Polymorphism rs45577338 - XDH P47989 VAR_023981 p.Asp584Ala Polymorphism rs45491693 - XDH P47989 VAR_023982 p.Arg607Gln Polymorphism rs45442092 - XDH P47989 VAR_023983 p.Lys617Asn Polymorphism rs45442398 - XDH P47989 VAR_023984 p.Thr623Ile Polymorphism rs45448694 - XDH P47989 VAR_023985 p.Ile646Val Polymorphism rs17323225 - XDH P47989 VAR_023986 p.Ile703Val Polymorphism rs17011368 - XDH P47989 VAR_023987 p.Thr910Met Polymorphism - - XDH P47989 VAR_023988 p.Val1091Leu Polymorphism rs45619033 - XDH P47989 VAR_023989 p.Asn1109Thr Polymorphism rs45547640 - XDH P47989 VAR_023990 p.Arg1176Cys Polymorphism rs45624433 - XDH P47989 VAR_023991 p.Arg1296Trp Polymorphism rs45564939 - XDH P47989 VAR_035899 p.Leu763Phe Unclassified - A breast cancer sample XDH P47989 VAR_035900 p.Arg791Gly Unclassified - A breast cancer sample XDH P47989 VAR_045900 p.Arg149Cys Disease - Xanthinuria type 1 (XU1) [MIM:278300] XDH P47989 VAR_045901 p.Pro1150Arg Polymorphism rs1042036 - XG P55808 VAR_054063 p.Asp60Asn Polymorphism rs5939319 - XIAP P98170 VAR_022282 p.Asn107Ser Polymorphism rs28382721 - XIAP P98170 VAR_022283 p.Ser133Phe Polymorphism rs28382722 - XIAP P98170 VAR_022284 p.Asp242Glu Polymorphism rs28382723 - XIAP P98170 VAR_022285 p.Gln423Pro Polymorphism rs5956583 - XIRP1 Q702N8 VAR_038439 p.Asp3Asn Polymorphism rs2271488 - XIRP1 Q702N8 VAR_038440 p.Gln346Arg Polymorphism rs6805248 - XIRP1 Q702N8 VAR_038441 p.Arg551Gln Polymorphism rs34121641 - XIRP1 Q702N8 VAR_038442 p.Leu929His Unclassified - A breast cancer sample XIRP1 Q702N8 VAR_038443 p.His965Pro Polymorphism rs11711871 - XIRP1 Q702N8 VAR_038444 p.Pro1046Ala Polymorphism rs35649793 - XIRP1 Q702N8 VAR_038445 p.Gly1604Arg Polymorphism rs3732383 - XIRP1 Q702N8 VAR_038446 p.Ala1608Val Polymorphism rs34810344 - XIRP1 Q702N8 VAR_038447 p.Arg1634Lys Unclassified - A breast cancer sample XIRP1 Q702N8 VAR_038448 p.Ile1724Val Polymorphism rs9827576 - XIRP1 Q702N8 VAR_061722 p.Arg695Cys Polymorphism rs60540208 - XIRP1 Q702N8 VAR_061723 p.Arg776Trp Polymorphism rs9823779 - XIRP1 Q702N8 VAR_061724 p.Ala1061Val Polymorphism rs35795536 - XIRP1 Q702N8 VAR_061725 p.Gln1707His Polymorphism rs34053674 - XIRP2 A4UGR9 VAR_038449 p.Pro450Ala Polymorphism rs16853305 - XIRP2 A4UGR9 VAR_038450 p.Tyr457His Polymorphism rs16853306 - XIRP2 A4UGR9 VAR_038451 p.Ile1397Thr Polymorphism rs7588159 - XIRP2 A4UGR9 VAR_038452 p.Ile1488Thr Polymorphism rs7591107 - XIRP2 A4UGR9 VAR_038453 p.Arg1626His Polymorphism rs16853309 - XIRP2 A4UGR9 VAR_038454 p.Asn1833Ser Polymorphism rs7607246 - XIRP2 A4UGR9 VAR_038455 p.Leu2423Arg Polymorphism rs16853326 - XIRP2 A4UGR9 VAR_038456 p.Ser2553Asn Polymorphism rs16853328 - XIRP2 A4UGR9 VAR_038457 p.His2595Tyr Polymorphism rs16853329 - XIRP2 A4UGR9 VAR_038458 p.Val2607Ile Polymorphism rs16853330 - XIRP2 A4UGR9 VAR_038459 p.Gly2728Asp Polymorphism rs3749002 - XIRP2 A4UGR9 VAR_038460 p.Ala2910Thr Polymorphism rs16853331 - XIRP2 A4UGR9 VAR_038461 p.Tyr2975Cys Polymorphism rs3749003 - XIRP2 A4UGR9 VAR_038462 p.Ile3022Val Polymorphism rs3749004 - XIRP2 A4UGR9 VAR_038463 p.Gly3202Glu Polymorphism rs16853333 - XK P51811 VAR_013817 p.Arg222Gly Disease - McLeod syndrome (MLS) [MIM:300842] XK P51811 VAR_013818 p.Cys294Arg Disease rs28933690 McLeod syndrome (MLS) [MIM:300842] XK P51811 VAR_023581 p.Glu327Lys Disease - McLeod syndrome (MLS) [MIM:300842] XKR3 Q5GH77 VAR_053740 p.Thr143Met Polymorphism rs5748648 - XKR3 Q5GH77 VAR_053741 p.Pro232Leu Polymorphism rs9605146 - XKR3 Q5GH77 VAR_053742 p.Phe255Leu Polymorphism rs5748623 - XKR3 Q5GH77 VAR_053743 p.His442Asn Polymorphism rs5748622 - XP32 Q5T750 VAR_059739 p.Ser26Thr Polymorphism rs1332500 - XP32 Q5T750 VAR_059740 p.Thr159Pro Polymorphism rs873775 - XP32 Q5T750 VAR_061726 p.Leu173Val Polymorphism rs59194678 - XPA P23025 VAR_007727 p.Pro94Leu Disease - Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_007728 p.Cys108Phe Disease - Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_007729 p.Arg130Lys Disease - Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_007730 p.Gln185His Disease - Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_007731 p.His244Arg Disease - Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA P23025 VAR_014799 p.Arg228Gln Polymorphism rs1805160 - XPA P23025 VAR_020324 p.Leu252Val Polymorphism rs3176750 - XPA P23025 VAR_029325 p.Val234Leu Polymorphism rs3176749 - XPA P23025 VAR_037907 p.Val97Ile Polymorphism rs10983315 - XPA P23025 VAR_061987 p.Met256Val Polymorphism rs57519506 - XPC Q01831 VAR_005846 p.Pro334His Disease - Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720] XPC Q01831 VAR_005848 p.Gln939Lys Polymorphism rs2228001 - XPC Q01831 VAR_018894 p.Leu16Val Polymorphism rs1870134 - XPC Q01831 VAR_018895 p.Leu48Phe Polymorphism rs3731062 - XPC Q01831 VAR_018896 p.Lys86Arg Polymorphism rs3731063 - XPC Q01831 VAR_018897 p.Arg314Gln Polymorphism rs3731126 - XPC Q01831 VAR_018898 p.Arg492His Polymorphism rs2227999 - XPC Q01831 VAR_018899 p.Ala499Val Polymorphism rs2228000 - XPC Q01831 VAR_018900 p.Met513Ile Polymorphism - - XPC Q01831 VAR_018901 p.Gln632Glu Polymorphism rs3731139 - XPC Q01831 VAR_018902 p.Arg671His Polymorphism rs3731140 - XPC Q01831 VAR_018903 p.Thr689Met Polymorphism rs3731152 - XPC Q01831 VAR_018904 p.Lys928Gln Polymorphism rs3731177 - XPC Q01831 VAR_057475 p.Phe287Cys Polymorphism rs35629274 - XPC Q01831 VAR_057476 p.Cys514Ser Polymorphism rs3731130 - XPC Q01831 VAR_059963 p.Lys511Gln Polymorphism rs6413541 - XPC Q01831 VAR_064039 p.Trp690Ser Disease - Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720] XPNPEP3 Q9NQH7 VAR_051573 p.Ile450Leu Polymorphism rs17002243 - XPNPEP3 Q9NQH7 VAR_063820 p.Gly453Cys Disease - Nephronophthisis-like nephropathy type 1 (NPHPL1) [MIM:613159] XPO4 Q9C0E2 VAR_048958 p.Asn149Ser Polymorphism rs17320607 - XPO4 Q9C0E2 VAR_048959 p.Thr451Ala Polymorphism rs9552285 - XPO5 Q9HAV4 VAR_028032 p.Lys610Asn Polymorphism rs12173786 - XPO5 Q9HAV4 VAR_048960 p.Ser241Asn Polymorphism rs34324334 - XPO6 Q96QU8 VAR_048961 p.Val1029Leu Polymorphism rs14672 - XPO7 Q9UIA9 VAR_026526 p.Glu398Asp Polymorphism rs17856894 - XPO7 Q9UIA9 VAR_026527 p.Cys835Tyr Polymorphism rs17856895 - XPOT O43592 VAR_026528 p.Ala526Val Polymorphism rs17851795 - XPOT O43592 VAR_048962 p.Glu716Asp Polymorphism rs1051396 - XPR1 Q9UBH6 VAR_038350 p.Thr491Ala Polymorphism rs1061012 - XRCC1 P18887 VAR_011487 p.Arg399Gln Polymorphism rs25487 - XRCC1 P18887 VAR_013400 p.Arg194Trp Polymorphism rs1799782 - XRCC1 P18887 VAR_013401 p.Arg280His Polymorphism rs25489 - XRCC1 P18887 VAR_014773 p.Arg7Leu Polymorphism rs2307186 - XRCC1 P18887 VAR_014774 p.Val10Met Polymorphism rs2307171 - XRCC1 P18887 VAR_014775 p.Glu157Lys Polymorphism rs2307180 - XRCC1 P18887 VAR_014776 p.Pro161Leu Polymorphism rs2307191 - XRCC1 P18887 VAR_014777 p.Lys298Asn Polymorphism rs2307188 - XRCC1 P18887 VAR_014778 p.Pro309Ser Polymorphism rs25491 - XRCC1 P18887 VAR_014779 p.Ser485Tyr Polymorphism rs2307184 - XRCC1 P18887 VAR_014780 p.Arg559Gln Polymorphism rs2307167 - XRCC1 P18887 VAR_014781 p.Arg560Trp Polymorphism rs2307166 - XRCC1 P18887 VAR_014782 p.Asn576Ser Polymorphism rs2307177 - XRCC1 P18887 VAR_016168 p.Val72Ala Polymorphism rs25496 - XRCC1 P18887 VAR_016169 p.Pro514Leu Polymorphism rs25474 - XRCC1 P18887 VAR_018775 p.Thr304Ala Polymorphism rs25490 - XRCC1 P18887 VAR_029228 p.Arg107His Polymorphism rs2228487 - XRCC1 P18887 VAR_036277 p.Arg350Trp Unclassified - A colorectal cancer sample XRCC1 P18887 VAR_061727 p.Asn576Tyr Polymorphism rs2682557 - XRCC2 O43543 VAR_020403 p.Ala16Ser Polymorphism rs4987090 - XRCC2 O43543 VAR_020404 p.Arg188His Polymorphism rs3218536 - XRCC2 O43543 VAR_029294 p.Ile221Thr Polymorphism rs3218537 - XRCC3 O43542 VAR_013006 p.Thr241Met Polymorphism rs861539 - XRCC3 O43542 VAR_020405 p.Arg94His Polymorphism rs3212057 - XRCC3 O43542 VAR_029295 p.Gly271Arg Polymorphism rs28903080 - XRCC3 O43542 VAR_029296 p.Arg302His Polymorphism rs28903081 - XRCC4 Q13426 VAR_017810 p.Gln240Pro Polymorphism rs2974446 - XRCC4 Q13426 VAR_017811 p.Ala247Ser Polymorphism rs3734091 - XRCC4 Q13426 VAR_022310 p.Ser12Cys Polymorphism rs28383138 - XRCC4 Q13426 VAR_022311 p.Ala56Thr Polymorphism rs28383151 - XRCC4 Q13426 VAR_022312 p.Ile134Thr Polymorphism rs28360135 - XRCC4 Q13426 VAR_022313 p.Glu142Gln Polymorphism rs28360136 - XRCC5 P13010 VAR_014724 p.Leu463Phe Polymorphism rs1805380 - XRCC5 P13010 VAR_053784 p.Ile508Val Polymorphism rs2287558 - XRCC6BP1 Q9Y6H3 VAR_054489 p.Ser48Cys Polymorphism rs3751325 - XRN1 Q8IZH2 VAR_053000 p.Ser674Gly Polymorphism rs35214510 - XRN1 Q8IZH2 VAR_053001 p.Val1259Ala Polymorphism rs35902661 - XRN2 Q9H0D6 VAR_027516 p.Arg743Met Polymorphism rs6137324 - XRN2 Q9H0D6 VAR_053002 p.Arg925Cys Polymorphism rs6047420 - XRRA1 Q6P2D8 VAR_038693 p.Thr473Arg Polymorphism rs4944960 - XRRA1 Q6P2D8 VAR_051492 p.Lys480Glu Polymorphism rs12291445 - XYLB O75191 VAR_055151 p.Asp85Glu Polymorphism rs17118 - XYLB O75191 VAR_055152 p.Asp133Asn Polymorphism rs2234610 - XYLB O75191 VAR_055153 p.Asp139Glu Polymorphism rs151611 - XYLB O75191 VAR_055154 p.Tyr262Asn Polymorphism rs196380 - XYLB O75191 VAR_055155 p.Asn348Asp Polymorphism rs2234622 - XYLT1 Q86Y38 VAR_049324 p.Pro325Arg Polymorphism rs28709752 - XYLT1 Q86Y38 VAR_049325 p.Pro766Ala Polymorphism rs12325439 - XYLT1 Q86Y38 VAR_049326 p.Val839Ile Polymorphism rs7200466 - XYLT1 Q86Y38 VAR_049327 p.Arg892Gln Polymorphism rs35309694 - XYLT2 Q9H1B5 VAR_022453 p.Arg305Thr Polymorphism rs12451299 - XYLT2 Q9H1B5 VAR_022454 p.Thr801Arg Polymorphism rs6504649 - XYLT2 Q9H1B5 VAR_049328 p.Gly60Arg Polymorphism rs739990 - YAE1D1 Q9NRH1 VAR_024306 p.Lys68Glu Polymorphism rs6947660 - YARS2 Q9Y2Z4 VAR_034534 p.Gly191Val Polymorphism rs11539445 - YARS2 Q9Y2Z4 VAR_064188 p.Phe52Leu Disease - Myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2) [MIM:613561] YARS P54577 VAR_026681 p.Gly41Arg Disease - Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323] YARS P54577 VAR_026683 p.Gln170His Polymorphism rs2128600 - YARS P54577 VAR_026684 p.Glu196Lys Disease - Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323] YBX2 Q9Y2T7 VAR_027916 p.Gly9Val Polymorphism rs222859 - YBX2 Q9Y2T7 VAR_027917 p.Ser63Pro Polymorphism rs8069533 - YDJC A8MPS7 VAR_042519 p.Ala263Thr Polymorphism rs2298428 - YEATS2 Q9ULM3 VAR_051494 p.Ile184Val Polymorphism rs16858033 - YEATS2 Q9ULM3 VAR_051495 p.Val530Ile Polymorphism rs262993 - YEATS2 Q9ULM3 VAR_051496 p.Gln993His Polymorphism rs3211095 - YES1 P07947 VAR_041879 p.Ile198Val Polymorphism rs34580680 - YES1 P07947 VAR_041880 p.Lys282Arg Polymorphism rs35126906 - YIF1B Q5BJH7 VAR_035385 p.Pro56Ser Polymorphism rs11556992 - YIPF3 Q9GZM5 VAR_026906 p.Ala5Val Polymorphism rs2231763 - YIPF6 Q96EC8 VAR_026855 p.Phe202Leu Polymorphism rs17850921 - YIPF7 Q8N8F6 VAR_043036 p.Ala54Thr Polymorphism rs2348353 - YJEFN3 A6XGL0 VAR_061989 p.Ala213Thr Polymorphism rs58031491 - YTHDC1 Q96MU7 VAR_053746 p.His183Arg Polymorphism rs3813832 - YTHDC2 Q9H6S0 VAR_058002 p.Ser652Asn Polymorphism rs10071816 - YTHDC2 Q9H6S0 VAR_058003 p.Leu1409Gln Polymorphism rs1132528 - YTHDF2 Q9Y5A9 VAR_053744 p.Thr217Ser Polymorphism rs16838382 - YTHDF2 Q9Y5A9 VAR_053745 p.Pro454Ser Polymorphism rs35288745 - YWHAB P31946 VAR_064762 p.Val99Ile Unclassified - - YY1AP1 Q9H869 VAR_051497 p.Gly412Ser Polymorphism rs35098429 - YY1AP1 Q9H869 VAR_051498 p.Glu786Gln Polymorphism rs7539 - YY1 P25490 VAR_065086 p.Asp380Tyr Unclassified - - YY2 O15391 VAR_039586 p.Asp103Asn Unclassified - A breast cancer sample ZACN Q401N2 VAR_038483 p.Ala152Thr Polymorphism rs2257020 - ZADH2 Q8N4Q0 VAR_048202 p.Cys323Phe Polymorphism rs17056661 - ZAN Q9Y493 VAR_055785 p.Gly412Ser Polymorphism rs17162408 - ZAN Q9Y493 VAR_055786 p.Ser690Thr Polymorphism rs13241461 - ZAN Q9Y493 VAR_055787 p.Leu1012Arg Polymorphism rs6942733 - ZAN Q9Y493 VAR_055788 p.Phe1096Cys Polymorphism rs221823 - ZAN Q9Y493 VAR_055789 p.Ala1375Thr Polymorphism rs2293767 - ZAN Q9Y493 VAR_055790 p.Gly1674Cys Polymorphism rs10953303 - ZAN Q9Y493 VAR_055791 p.Leu1698Pro Polymorphism rs10247980 - ZAN Q9Y493 VAR_055792 p.Cys1742Arg Polymorphism rs17147735 - ZAN Q9Y493 VAR_055793 p.Pro1878Ser Polymorphism rs314298 - ZAN Q9Y493 VAR_055794 p.Cys1903Tyr Polymorphism rs12673041 - ZAN Q9Y493 VAR_059278 p.Ile1995Met Polymorphism rs541275 - ZAN Q9Y493 VAR_059279 p.Asn2073Ser Polymorphism rs314300 - ZAN Q9Y493 VAR_059280 p.Thr2527Met Polymorphism rs3847059 - ZAN Q9Y493 VAR_059281 p.Trp2643Arg Polymorphism rs314339 - ZAN Q9Y493 VAR_061162 p.Gly113Ala Polymorphism rs34828430 - ZAN Q9Y493 VAR_061163 p.Tyr2334Ser Polymorphism rs60783739 - ZAN Q9Y493 VAR_061164 p.Leu2349Phe Polymorphism rs59541653 - ZAN Q9Y493 VAR_064584 p.Leu16Phe Polymorphism rs12673246 - ZAN Q9Y493 VAR_064585 p.Gln430His Polymorphism rs221833 - ZAN Q9Y493 VAR_064586 p.Arg1922Cys Polymorphism rs314299 - ZAN Q9Y493 VAR_064587 p.Phe1969Leu Polymorphism rs542137 - ZAN Q9Y493 VAR_064588 p.Ser2035Thr Polymorphism rs539445 - ZAN Q9Y493 VAR_064589 p.Leu2111Pro Polymorphism rs531503 - ZAP70 P43403 VAR_006351 p.Ser518Arg Disease - Selective T-cell defect (STCD) [MIM:269840] ZAP70 P43403 VAR_015538 p.Arg465His Disease - Selective T-cell defect (STCD) [MIM:269840] ZAP70 P43403 VAR_041846 p.Arg175Leu Polymorphism rs55964305 - ZAP70 P43403 VAR_041847 p.Pro191Leu Polymorphism rs56403250 - ZAP70 P43403 VAR_041848 p.Gly448Glu Unclassified - Neck squamous cell carcinoma sample ZAP70 P43403 VAR_041849 p.Trp523Leu Polymorphism rs56189815 - ZAP70 P43403 VAR_065623 p.Leu337Arg Disease - Selective T-cell defect (STCD) [MIM:269840] ZAP70 P43403 VAR_065624 p.Arg465Cys Disease - Selective T-cell defect (STCD) [MIM:269840] ZAP70 P43403 VAR_065625 p.Ala507Val Disease - Selective T-cell defect (STCD) [MIM:269840] ZAP70 P43403 VAR_065626 p.Cys564Arg Disease - Selective T-cell defect (STCD) [MIM:269840] ZBBX A8MT70 VAR_046955 p.Ala636Gly Polymorphism rs12638625 - ZBBX A8MT70 VAR_048400 p.Pro14Thr Polymorphism rs10936535 - ZBBX A8MT70 VAR_048401 p.Lys160Asn Polymorphism rs4619784 - ZBBX A8MT70 VAR_048402 p.Lys178Arg Polymorphism rs11923054 - ZBBX A8MT70 VAR_048403 p.Ala473Gly Polymorphism rs13096767 - ZBBX A8MT70 VAR_048404 p.Ile511Thr Polymorphism rs35190925 - ZBBX A8MT70 VAR_048405 p.Glu555Lys Polymorphism rs35864545 - ZBBX A8MT70 VAR_061040 p.His346Arg Polymorphism rs34465133 - ZBED4 O75132 VAR_027809 p.Ile420Val Polymorphism rs910799 - ZBED5 Q49AG3 VAR_032895 p.Ala17Val Polymorphism rs2232918 - ZBED5 Q49AG3 VAR_032896 p.Gln47Arg Polymorphism rs2232919 - ZBED5 Q49AG3 VAR_032897 p.Pro77Ser Polymorphism rs2232920 - ZBED5 Q49AG3 VAR_059741 p.Ile480Val Polymorphism rs1046297 - ZBP1 Q9H171 VAR_014316 p.Glu88Lys Polymorphism rs2073145 - ZBP1 Q9H171 VAR_057030 p.Arg17Ile Polymorphism rs35813125 - ZBP1 Q9H171 VAR_057031 p.Gly70Arg Polymorphism rs34964609 - ZBP1 Q9H171 VAR_057032 p.Asp154His Polymorphism rs16981187 - ZBP1 Q9H171 VAR_057033 p.Arg166His Polymorphism rs34478944 - ZBP1 Q9H171 VAR_061728 p.Lys53Arg Polymorphism rs35895307 - ZBP1 Q9H171 VAR_061729 p.Ala332Val Polymorphism rs41275648 - ZBTB10 Q96DT7 VAR_018384 p.Pro50Thr Polymorphism rs591989 - ZBTB10 Q96DT7 VAR_018385 p.Met174Ile Polymorphism rs593747 - ZBTB11 O95625 VAR_021894 p.Gly44Ser Polymorphism rs3749323 - ZBTB11 O95625 VAR_047465 p.Thr350Asn Polymorphism rs33957144 - ZBTB14 O43829 VAR_027810 p.Glu77Gly Polymorphism rs7235740 - ZBTB14 O43829 VAR_027811 p.Gln139Arg Polymorphism rs7235420 - ZBTB16 Q05516 VAR_054912 p.Met617Val Disease - Skeletal defects genital hypoplasia and mental retardation (SGYMR) [MIM:612447] ZBTB21 Q9ULJ3 VAR_052807 p.Asn185Ser Polymorphism rs871545 - ZBTB21 Q9ULJ3 VAR_052808 p.Lys218Gln Polymorphism rs871546 - ZBTB22 O15209 VAR_022702 p.Thr310Ala Polymorphism rs3130100 - ZBTB22 O15209 VAR_057457 p.Gly250Ala Polymorphism rs35663442 - ZBTB24 O43167 VAR_057458 p.Ala518Thr Polymorphism rs2232448 - ZBTB26 Q9HCK0 VAR_052916 p.His236Arg Polymorphism rs7856488 - ZBTB32 Q9Y2Y4 VAR_030145 p.Arg174Ser Polymorphism rs2227278 - ZBTB38 Q8NAP3 VAR_052917 p.Ser319Ala Polymorphism rs16851435 - ZBTB38 Q8NAP3 VAR_052918 p.Thr615Met Polymorphism rs17787670 - ZBTB38 Q8NAP3 VAR_052919 p.Ala809Thr Polymorphism rs3732867 - ZBTB39 O15060 VAR_019985 p.Pro689Ala Polymorphism rs3741576 - ZBTB3 Q9H5J0 VAR_018382 p.Ile574Met Polymorphism rs544641 - ZBTB3 Q9H5J0 VAR_035600 p.His424Leu Unclassified - A breast cancer sample ZBTB3 Q9H5J0 VAR_035601 p.Ser455Phe Unclassified - A breast cancer sample ZBTB40 Q9NUA8 VAR_052920 p.Ala225Thr Polymorphism rs6659222 - ZBTB40 Q9NUA8 VAR_052921 p.Met267Ile Polymorphism rs36115661 - ZBTB40 Q9NUA8 VAR_052922 p.Tyr595Cys Polymorphism rs209729 - ZBTB40 Q9NUA8 VAR_052923 p.Val997Met Polymorphism rs209720 - ZBTB41 Q5SVQ8 VAR_030601 p.Asp327Tyr Polymorphism rs10494751 - ZBTB44 Q8NCP5 VAR_030336 p.Lys185Glu Polymorphism rs17857365 - ZBTB45 Q96K62 VAR_052924 p.Asp293Glu Polymorphism rs35430780 - ZBTB46 Q86UZ6 VAR_030629 p.Thr11Ala Polymorphism rs2281929 - ZBTB47 Q9UFB7 VAR_027715 p.Ala9Thr Polymorphism rs9878239 - ZBTB48 P10074 VAR_052925 p.Ser675Ala Polymorphism rs2229330 - ZBTB49 Q6ZSB9 VAR_057422 p.Tyr320Ser Polymorphism rs2920217 - ZBTB49 Q6ZSB9 VAR_057423 p.Ala348Thr Polymorphism rs4689254 - ZBTB49 Q6ZSB9 VAR_057424 p.Ala642Val Polymorphism rs34293093 - ZBTB4 Q9P1Z0 VAR_018383 p.Met550Ile Polymorphism rs871990 - ZBTB4 Q9P1Z0 VAR_052913 p.Ala539Val Polymorphism rs35231078 - ZBTB4 Q9P1Z0 VAR_052914 p.Asn561Ser Polymorphism rs34914463 - ZBTB5 O15062 VAR_052915 p.Asp300Gly Polymorphism rs17502738 - ZBTB8A Q96BR9 VAR_058085 p.Gly418Ala Polymorphism rs704886 - ZBTB8B Q8NAP8 VAR_035602 p.Glu181Lys Unclassified - A colorectal cancer sample ZBTB9 Q96C00 VAR_061981 p.Ala274Gly Polymorphism rs9469425 - ZC2HC1A Q96GY0 VAR_031102 p.Thr156Ala Polymorphism rs17850447 - ZC2HC1B Q5TFG8 VAR_053853 p.Pro6Ser Polymorphism rs6934118 - ZC3H11A O75152 VAR_052967 p.Thr640Asn Polymorphism rs11240604 - ZC3H12A Q5D1E8 VAR_044082 p.Gly547Asp Polymorphism rs17849897 - ZC3H12A Q5D1E8 VAR_052968 p.Val240Met Polymorphism rs16824179 - ZC3H12D A2A288 VAR_046199 p.Pro53Leu Polymorphism rs7747948 - ZC3H12D A2A288 VAR_046200 p.Lys106Arg Unclassified rs61997220 Some sporadic lung cancer sample ZC3H13 Q5T200 VAR_022727 p.Glu1429Asp Polymorphism rs9534264 - ZC3H15 Q8WU90 VAR_039867 p.Val342Glu Polymorphism rs11555006 - ZC3H15 Q8WU90 VAR_052969 p.Thr408Pro Polymorphism rs1043497 - ZC3H18 Q86VM9 VAR_037188 p.Ala368Thr Polymorphism rs34808360 - ZC3H18 Q86VM9 VAR_037189 p.Arg440His Polymorphism rs17855686 - ZC3H3 Q8IXZ2 VAR_018457 p.Ile6Met Polymorphism rs2242093 - ZC3H3 Q8IXZ2 VAR_018458 p.Phe149Tyr Polymorphism rs3750206 - ZC3H3 Q8IXZ2 VAR_018459 p.Glu151Asp Polymorphism rs3750207 - ZC3H3 Q8IXZ2 VAR_018460 p.Ser399Gly Polymorphism rs1318196 - ZC3H3 Q8IXZ2 VAR_018461 p.Ser452Gly Polymorphism rs4874147 - ZC3H3 Q8IXZ2 VAR_057484 p.Arg168Trp Polymorphism rs3750208 - ZC3H3 Q8IXZ2 VAR_057485 p.Ala228Ser Polymorphism rs4873802 - ZC3H3 Q8IXZ2 VAR_057486 p.Pro351Leu Polymorphism rs34674128 - ZC3H3 Q8IXZ2 VAR_057487 p.Pro415Leu Polymorphism rs36008851 - ZC3H3 Q8IXZ2 VAR_057488 p.Thr503Lys Polymorphism rs11548254 - ZC3H3 Q8IXZ2 VAR_060402 p.Gln102Arg Polymorphism rs17857167 - ZC3H3 Q8IXZ2 VAR_060403 p.Glu165Lys Polymorphism rs17853852 - ZC3H3 Q8IXZ2 VAR_060404 p.Pro231Ala Polymorphism rs17853853 - ZC3H3 Q8IXZ2 VAR_060405 p.Arg578His Polymorphism rs17855618 - ZC3H3 Q8IXZ2 VAR_060406 p.Arg636Trp Polymorphism rs17857164 - ZC3H3 Q8IXZ2 VAR_060407 p.Pro727Arg Polymorphism rs17857168 - ZC3H4 Q9UPT8 VAR_052964 p.Glu287Lys Polymorphism rs192824 - ZC3H4 Q9UPT8 VAR_052965 p.Met464Val Polymorphism rs402833 - ZC3H4 Q9UPT8 VAR_052966 p.Ala1228Gly Polymorphism rs309195 - ZC3H7A Q8IWR0 VAR_052632 p.Asn3Ser Polymorphism rs1429077 - ZC3H7A Q8IWR0 VAR_052633 p.His57Arg Polymorphism rs16958654 - ZC3H7B Q9UGR2 VAR_054313 p.Asp379Asn Polymorphism rs9607793 - ZC3H8 Q8N5P1 VAR_057489 p.Cys240Trp Polymorphism rs35782954 - ZC3HAV1 Q7Z2W4 VAR_018454 p.Arg485Lys Polymorphism rs2236426 - ZC3HAV1 Q7Z2W4 VAR_018455 p.His565Gln Polymorphism rs2297241 - ZC3HAV1 Q7Z2W4 VAR_018456 p.Thr851Ile Polymorphism rs3735007 - ZC3HAV1 Q7Z2W4 VAR_054319 p.Gln701Glu Polymorphism rs2297236 - ZC3HC1 Q86WB0 VAR_023312 p.Thr271Ala Polymorphism rs1464890 - ZC3HC1 Q86WB0 VAR_023313 p.Arg363His Polymorphism rs11556924 - ZCCHC11 Q5TAX3 VAR_028402 p.Asp796Tyr Polymorphism rs12127732 - ZCCHC12 Q6PEW1 VAR_045908 p.Arg7Cys Polymorphism rs35356061 - ZCCHC12 Q6PEW1 VAR_045909 p.Leu179Ile Polymorphism rs17854957 - ZCCHC12 Q6PEW1 VAR_045910 p.Arg214Gly Polymorphism rs17853670 - ZCCHC14 Q8WYQ9 VAR_024703 p.Val693Met Polymorphism rs3748400 - ZCCHC14 Q8WYQ9 VAR_036492 p.Leu290Val Unclassified - A breast cancer sample ZCCHC14 Q8WYQ9 VAR_053754 p.Ile54Val Polymorphism rs11648852 - ZCCHC14 Q8WYQ9 VAR_053755 p.Gly244Ala Polymorphism rs13338940 - ZCCHC16 Q6ZR62 VAR_028917 p.Leu27Pro Polymorphism rs6568050 - ZCCHC16 Q6ZR62 VAR_053756 p.Asp162Tyr Polymorphism rs7474140 - ZCCHC24 Q8N2G6 VAR_030249 p.Glu43Val Polymorphism rs17852581 - ZCCHC2 Q9C0B9 VAR_060121 p.Thr941Ala Polymorphism rs35643152 - ZCCHC4 Q9H5U6 VAR_024925 p.Leu396His Polymorphism rs315675 - ZCCHC4 Q9H5U6 VAR_053751 p.Pro382Leu Polymorphism rs3752873 - ZCCHC5 Q8N8U3 VAR_053752 p.Pro117Ser Polymorphism rs4077512 - ZCCHC6 Q5VYS8 VAR_053753 p.Ala40Val Polymorphism rs2378695 - ZCCHC7 Q8N3Z6 VAR_054958 p.Gly118Asp Polymorphism rs35119826 - ZCCHC7 Q8N3Z6 VAR_054959 p.Arg539Lys Polymorphism rs1051465 - ZCCHC8 Q6NZY4 VAR_034585 p.Pro672Ala Polymorphism rs1063155 - ZCCHC9 Q8N567 VAR_028164 p.Pro15Ala Polymorphism rs16878594 - ZCRB1 Q8TBF4 VAR_027845 p.Pro131Gln Polymorphism rs17852093 - ZCWPW1 Q9H0M4 VAR_019659 p.Thr153Ala Polymorphism rs6465770 - ZCWPW1 Q9H0M4 VAR_047050 p.Glu365Lys Polymorphism rs6970350 - ZCWPW2 Q504Y3 VAR_051499 p.Leu202Gln Polymorphism rs1563656 - ZDBF2 Q9HCK1 VAR_037853 p.Arg160Lys Polymorphism rs10932150 - ZDHHC11B P0C7U3 VAR_052976 p.Arg42Gln Polymorphism rs1809933 - ZDHHC11B P0C7U3 VAR_052977 p.Arg200Gly Polymorphism rs634901 - ZDHHC11B P0C7U3 VAR_061990 p.Val228Leu Polymorphism rs3817063 - ZDHHC11 Q9H8X9 VAR_021998 p.Arg372His Polymorphism rs3747738 - ZDHHC11 Q9H8X9 VAR_024704 p.Arg341Gln Polymorphism rs1809008 - ZDHHC11 Q9H8X9 VAR_052975 p.Leu325Ser Polymorphism rs2878468 - ZDHHC12 Q96GR4 VAR_023833 p.Pro69Ser Polymorphism rs2298039 - ZDHHC12 Q96GR4 VAR_023834 p.Gln172Leu Polymorphism rs2900268 - ZDHHC13 Q8IUH4 VAR_023835 p.Lys99Arg Polymorphism rs2271001 - ZDHHC13 Q8IUH4 VAR_057490 p.Tyr392Cys Polymorphism rs12798330 - ZDHHC14 Q8IZN3 VAR_034586 p.Thr334Met Polymorphism rs8180688 - ZDHHC17 Q8IUH5 VAR_052978 p.Asn383Ser Polymorphism rs33996476 - ZDHHC19 Q8WVZ1 VAR_052979 p.Gly66Ala Polymorphism rs13315830 - ZDHHC1 Q8WTX9 VAR_052972 p.Arg124Gln Polymorphism rs34229857 - ZDHHC23 Q8IYP9 VAR_047389 p.His132Asn Polymorphism rs17853401 - ZDHHC23 Q8IYP9 VAR_047390 p.Thr221Ala Polymorphism rs17853402 - ZDHHC23 Q8IYP9 VAR_047391 p.Lys247Arg Polymorphism rs11921691 - ZDHHC23 Q8IYP9 VAR_047392 p.His274Arg Polymorphism rs17857054 - ZDHHC2 Q9UIJ5 VAR_015229 p.Ser306Phe Unclassified - A hepatocellular carcinoma sample ZDHHC2 Q9UIJ5 VAR_015230 p.Met356Ile Unclassified - A colorectal cancer sample ZDHHC4 Q9NPG8 VAR_023832 p.Val53Met Polymorphism rs11559146 - ZDHHC4 Q9NPG8 VAR_036260 p.Pro104Ser Unclassified - A breast cancer sample ZDHHC6 Q9H6R6 VAR_052974 p.Asp41Asn Polymorphism rs34350728 - ZDHHC7 Q9NXF8 VAR_028360 p.Val201Ile Polymorphism rs13334011 - ZDHHC7 Q9NXF8 VAR_036261 p.Asp44Asn Unclassified - A colorectal cancer sample ZDHHC9 Q9Y397 VAR_062674 p.Arg148Trp Disease - Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799] ZDHHC9 Q9Y397 VAR_062675 p.Pro150Ser Disease - Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799] ZEB1 P37275 VAR_031824 p.Lys553Arg Polymorphism rs35753967 - ZEB1 P37275 VAR_052731 p.Gly90Arg Polymorphism rs12217419 - ZEB1 P37275 VAR_063759 p.Asn78Thr Disease - Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_063760 p.Pro649Ala Disease - Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_063761 p.Gln810Pro Disease - Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_063762 p.Gln840Pro Disease - Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270] ZEB1 P37275 VAR_063763 p.Ala905Thr Disease - Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270] ZEB2 O60315 VAR_027017 p.Arg953Gly Disease - Mowat-Wilson syndrome (MWIS) [MIM:235730] ZEB2 O60315 VAR_027018 p.Gln1119Arg Disease - Mowat-Wilson syndrome (MWIS) [MIM:235730] ZEB2 O60315 VAR_035563 p.Asp983Asn Unclassified - A colorectal cancer sample ZER1 Q7Z7L7 VAR_060159 p.Thr539Ile Polymorphism rs13299702 - ZFAND2A Q8N6M9 VAR_055295 p.His53Leu Polymorphism rs17855544 - ZFAND4 Q86XD8 VAR_053773 p.Lys118Thr Polymorphism rs17854567 - ZFAND4 Q86XD8 VAR_053774 p.His358Tyr Polymorphism rs12267385 - ZFAND4 Q86XD8 VAR_062163 p.Thr523Ala Polymorphism rs34082391 - ZFAT Q9P243 VAR_024840 p.Gly64Arg Polymorphism rs17778003 - ZFAT Q9P243 VAR_045815 p.Pro102Ser Polymorphism rs12541381 - ZFAT Q9P243 VAR_052819 p.Arg672Lys Polymorphism rs35003767 - ZFC3H1 O60293 VAR_032070 p.Glu1006Lys Polymorphism rs1011332 - ZFC3H1 O60293 VAR_032071 p.Lys1807Arg Polymorphism rs11541286 - ZFHX3 Q15911 VAR_011694 p.Ala3374Val Polymorphism - - ZFHX3 Q15911 VAR_019968 p.Glu460Gln Polymorphism rs2073852 - ZFHX3 Q15911 VAR_026663 p.Ser72Ala Polymorphism rs7193297 - ZFHX3 Q15911 VAR_026664 p.Thr428Pro Polymorphism rs16971436 - ZFHX3 Q15911 VAR_026665 p.Val777Ala Polymorphism rs4788682 - ZFHX3 Q15911 VAR_026666 p.Pro3421Ala Polymorphism rs8044440 - ZFHX3 Q15911 VAR_052733 p.Ala997Ser Polymorphism rs2213978 - ZFHX3 Q15911 VAR_061927 p.Ser146Gly Polymorphism rs58480263 - ZFHX4 Q86UP3 VAR_057375 p.Ile2036Val Polymorphism rs16919452 - ZFHX4 Q86UP3 VAR_057376 p.Val3033Gly Polymorphism rs16939380 - ZFP28 Q8NHY6 VAR_024190 p.Ala620Val Polymorphism rs10409531 - ZFP28 Q8NHY6 VAR_052738 p.Ser141Trp Polymorphism rs34136271 - ZFP2 Q6ZN57 VAR_032904 p.Gln113His Polymorphism rs28678700 - ZFP2 Q6ZN57 VAR_032905 p.Arg142Gly Polymorphism rs11956147 - ZFP36 P26651 VAR_021064 p.Pro37Ser Polymorphism rs17878633 - ZFP36 P26651 VAR_021065 p.Ile259Phe Polymorphism rs17886974 - ZFP36 P26651 VAR_021066 p.Val324Phe Polymorphism rs17884899 - ZFP36 P26651 VAR_052324 p.Pro55Ser Polymorphism rs2229272 - ZFP37 Q9Y6Q3 VAR_058701 p.Val7Asp Polymorphism rs2282076 - ZFP57 Q9NU63 VAR_032902 p.Asn114Ser Polymorphism rs9461544 - ZFP57 Q9NU63 VAR_032903 p.Asp284Val Polymorphism rs2535241 - ZFP57 Q9NU63 VAR_054771 p.Arg166His Disease - Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410] ZFP57 Q9NU63 VAR_054772 p.His193Asn Disease - Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410] ZFP57 Q9NU63 VAR_054773 p.His374Asp Disease - Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410] ZFP62 Q8NB50 VAR_064881 p.Met34Ile Polymorphism rs705441 - ZFP62 Q8NB50 VAR_064882 p.Arg698Lys Polymorphism rs168726 - ZFP64 Q9NPA5 VAR_028019 p.Gln68Pro Polymorphism rs7353222 - ZFP64 Q9NPA5 VAR_028020 p.Pro139Leu Polymorphism rs6021773 - ZFP64 Q9NPA5 VAR_028021 p.Phe425Tyr Polymorphism rs16996517 - ZFP64 Q9NPA5 VAR_028022 p.Ser451Asn Polymorphism rs3746414 - ZFP64 Q9NTW7 VAR_035564 p.Asp593Glu Unclassified - A breast cancer sample ZFP64 Q9NTW7 VAR_035565 p.Lys609Asn Unclassified - A breast cancer sample ZFP69B Q9UJL9 VAR_033584 p.Cys115Tyr Polymorphism rs2272994 - ZFP69B Q9UJL9 VAR_052884 p.Gly359Arg Polymorphism rs12407929 - ZFP69 Q49AA0 VAR_033583 p.Val113Leu Polymorphism rs34752670 - ZFP91 Q96JP5 VAR_021889 p.Ser207Gly Polymorphism rs8373 - ZFP91 Q96JP5 VAR_032454 p.Val37Ile Polymorphism rs17854702 - ZFPL1 O95159 VAR_034472 p.Arg218Gln Polymorphism rs35251366 - ZFPM1 Q8IX07 VAR_057491 p.Gly70Ala Polymorphism rs34916016 - ZFPM2 Q8WW38 VAR_017942 p.Glu30Gly Disease - Tetralogy of Fallot (TOF) [MIM:187500] ZFPM2 Q8WW38 VAR_017943 p.Ser657Gly Disease rs28374544 Tetralogy of Fallot (TOF) [MIM:187500] ZFPM2 Q8WW38 VAR_017944 p.Glu782Asp Polymorphism rs2920048 - ZFPM2 Q8WW38 VAR_024178 p.Ala403Gly Polymorphism rs11993776 - ZFPM2 Q8WW38 VAR_030760 p.Ala1055Val Polymorphism rs16873741 - ZFR2 Q9UPR6 VAR_036886 p.Ser164Leu Polymorphism rs2240235 - ZFR2 Q9UPR6 VAR_036887 p.Val183Met Polymorphism rs2240234 - ZFR2 Q9UPR6 VAR_036888 p.Val210Leu Polymorphism rs2240233 - ZFR2 Q9UPR6 VAR_036889 p.Pro235Leu Polymorphism rs2240232 - ZFR2 Q9UPR6 VAR_036890 p.Ala577Thr Polymorphism rs2301843 - ZFR2 Q9UPR6 VAR_036891 p.Asp589Asn Polymorphism rs2301839 - ZFR2 Q9UPR6 VAR_061730 p.Ile718Met Polymorphism rs45465594 - ZFR Q96KR1 VAR_037554 p.Val461Ile Polymorphism rs4867440 - ZFR Q96KR1 VAR_037555 p.Ile520Thr Polymorphism rs1051489 - ZFYVE16 Q7Z3T8 VAR_019489 p.Ile192Thr Polymorphism rs2544600 - ZFYVE16 Q7Z3T8 VAR_019490 p.Ile598Thr Polymorphism rs259028 - ZFYVE16 Q7Z3T8 VAR_019491 p.Ser1055Gly Polymorphism rs249038 - ZFYVE16 Q7Z3T8 VAR_057492 p.Ala35Glu Polymorphism rs6893297 - ZFYVE16 Q7Z3T8 VAR_057493 p.Thr1519Asn Polymorphism rs16877836 - ZFYVE19 Q96K21 VAR_057494 p.Arg210His Polymorphism rs34819163 - ZFYVE19 Q96K21 VAR_060474 p.Ser376Ala Polymorphism rs690347 - ZFYVE19 Q96K21 VAR_060475 p.Arg398Cys Polymorphism rs72735636 - ZFYVE20 Q9H1K0 VAR_052982 p.Leu591Pro Polymorphism rs9868848 - ZFYVE20 Q9H1K0 VAR_052983 p.Thr641Ala Polymorphism rs9851219 - ZFYVE20 Q9H1K0 VAR_052984 p.Met722Ile Polymorphism rs9830744 - ZFYVE26 Q68DK2 VAR_037987 p.Lys429Glu Polymorphism rs34059852 - ZFYVE26 Q68DK2 VAR_037988 p.Thr898Ser Polymorphism rs17192170 - ZFYVE26 Q68DK2 VAR_037989 p.Thr951Met Polymorphism rs35471427 - ZFYVE26 Q68DK2 VAR_037990 p.Ser1071Asn Polymorphism rs7156206 - ZFYVE26 Q68DK2 VAR_037991 p.Pro1103Leu Polymorphism rs3742885 - ZFYVE26 Q68DK2 VAR_037992 p.Ala1122Val Polymorphism rs3742884 - ZFYVE26 Q68DK2 VAR_037993 p.Ala1164Glu Unclassified - A breast cancer sample ZFYVE26 Q68DK2 VAR_037994 p.Cys1457Tyr Polymorphism rs2235967 - ZFYVE26 Q68DK2 VAR_037995 p.Ser1891Asn Polymorphism rs3742883 - ZFYVE26 Q68DK2 VAR_037996 p.Arg1945Gln Unclassified - A breast cancer sample ZFYVE26 Q68DK2 VAR_037997 p.Arg2411His Polymorphism rs34373049 - ZFYVE27 Q5T4F4 VAR_027002 p.Val82Ile Polymorphism rs17108378 - ZFYVE27 Q5T4F4 VAR_027003 p.Gly138Val Polymorphism rs10882993 - ZFYVE27 Q5T4F4 VAR_027269 p.Gly191Val Disease rs35077384 Spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244] ZFYVE28 Q9HCC9 VAR_052988 p.Ser603Asn Polymorphism rs17768776 - ZFYVE28 Q9HCC9 VAR_052989 p.Ser672Pro Polymorphism rs661301 - ZFYVE9 O95405 VAR_052985 p.Tyr287Cys Polymorphism rs9803965 - ZFYVE9 O95405 VAR_052986 p.Gln414Pro Polymorphism rs3790525 - ZFYVE9 O95405 VAR_052987 p.Ile639Val Polymorphism rs11809887 - ZG16B Q96DA0 VAR_060067 p.Met133Val Polymorphism rs35533993 - ZG16 O60844 VAR_034587 p.Ser32Gly Polymorphism rs235636 - ZG16 O60844 VAR_034588 p.Thr162Ser Polymorphism rs235638 - ZGPAT Q8N5A5 VAR_025539 p.Ser61Arg Polymorphism rs1291212 - ZHX2 Q9Y6X8 VAR_049594 p.Val357Met Polymorphism rs9649951 - ZHX2 Q9Y6X8 VAR_049595 p.Arg649Lys Polymorphism rs35319449 - ZHX2 Q9Y6X8 VAR_049596 p.Gly779Ser Polymorphism rs3802264 - ZHX3 Q9H4I2 VAR_049597 p.Asn310Ser Polymorphism rs17265513 - ZIC2 O95409 VAR_023793 p.Gln36Pro Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_023794 p.Asp152Phe Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058592 p.Asp37Asn Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058593 p.Asp128Asn Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058594 p.Ser272Asn Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058595 p.His286Leu Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058596 p.His286Gln Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058597 p.His286Tyr Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058598 p.His291Tyr Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058599 p.Trp304Arg Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058600 p.Phe314Cys Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058601 p.Arg325Leu Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058602 p.Arg325Ser Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058603 p.His327Tyr Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058604 p.Cys335Phe Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058605 p.Arg373Pro Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058606 p.Tyr402Asn Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058607 p.Thr403Lys Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058608 p.His404Arg Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058609 p.Arg409Trp Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC2 O95409 VAR_058610 p.His415Gln Disease - Holoprosencephaly type 5 (HPE5) [MIM:609637] ZIC3 O60481 VAR_007753 p.Thr323Met Disease - Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] ZIC3 O60481 VAR_025632 p.Pro217Ala Disease - Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955] ZIC3 O60481 VAR_025633 p.Cys253Ser Disease - Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] ZIC3 O60481 VAR_025634 p.His286Arg Disease - Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] ZIC3 O60481 VAR_025635 p.Lys405Glu Disease - Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] ZIC3 O60481 VAR_042416 p.Trp255Gly Disease - Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] ZIM2 Q9NZV7 VAR_021896 p.Ala110Thr Polymorphism rs2191432 - ZIM2 Q9NZV7 VAR_052931 p.Gln408Arg Polymorphism rs8112407 - ZIM2 Q9NZV7 VAR_052932 p.Arg473Lys Polymorphism rs10422475 - ZIM3 Q96PE6 VAR_024222 p.Arg7Lys Polymorphism rs10407445 - ZIM3 Q96PE6 VAR_024223 p.Glu28Lys Polymorphism rs2370134 - ZIM3 Q96PE6 VAR_024224 p.Asn157Asp Polymorphism rs7252632 - ZIM3 Q96PE6 VAR_024225 p.Ile379Val Polymorphism rs4801433 - ZIM3 Q96PE6 VAR_033599 p.Leu69Met Polymorphism rs4801200 - ZIM3 Q96PE6 VAR_052933 p.Gly205Arg Polymorphism rs35202951 - ZKSCAN1 P17029 VAR_024839 p.Val26Ala Polymorphism rs17851996 - ZKSCAN2 Q63HK3 VAR_033597 p.Leu253Phe Polymorphism rs2112811 - ZKSCAN2 Q63HK3 VAR_033598 p.Glu615Asp Polymorphism rs8059494 - ZKSCAN2 Q63HK3 VAR_057460 p.Pro947Ser Polymorphism rs7197424 - ZKSCAN3 Q9BRR0 VAR_024208 p.Arg3Thr Polymorphism rs733743 - ZKSCAN3 Q9BRR0 VAR_028313 p.Gly33Val Polymorphism rs3857554 - ZKSCAN3 Q9BRR0 VAR_028314 p.Phe34Leu Polymorphism rs3857555 - ZKSCAN3 Q9BRR0 VAR_028315 p.Val189Met Polymorphism rs17856167 - ZKSCAN3 Q9BRR0 VAR_028316 p.Lys200Glu Polymorphism rs45505399 - ZKSCAN3 Q9BRR0 VAR_028317 p.Lys200Thr Polymorphism rs13201753 - ZKSCAN3 Q9BRR0 VAR_028318 p.His246Gln Polymorphism rs213227 - ZKSCAN3 Q9BRR0 VAR_059950 p.Lys200Ala Polymorphism rs13201752 - ZKSCAN4 Q969J2 VAR_059951 p.Ser33Phe Polymorphism rs9986596 - ZKSCAN7 Q9P0L1 VAR_052782 p.Arg24Cys Polymorphism rs35696191 - ZKSCAN7 Q9P0L1 VAR_052783 p.Phe153Ser Polymorphism rs13081859 - ZKSCAN7 Q9P0L1 VAR_052784 p.Thr342Ile Polymorphism rs34396823 - ZKSCAN7 Q9P0L1 VAR_052785 p.Glu359Lys Polymorphism rs34181686 - ZKSCAN7 Q9P0L1 VAR_052786 p.Thr432Ala Polymorphism rs9835485 - ZKSCAN7 Q9P0L1 VAR_052787 p.Thr483Ile Polymorphism rs9873604 - ZKSCAN7 Q9P0L1 VAR_052788 p.Ser746Phe Polymorphism rs34437520 - ZKSCAN8 Q15776 VAR_009877 p.Pro163Leu Polymorphism - - ZMAT1 Q5H9K5 VAR_053766 p.Arg214Lys Polymorphism rs17282855 - ZMAT1 Q5H9K5 VAR_062159 p.Gln536Arg Polymorphism rs5944882 - ZMAT4 Q9H898 VAR_034736 p.Thr201Ala Polymorphism rs17851751 - ZMIZ1 Q9ULJ6 VAR_036326 p.Leu551Val Unclassified - A breast cancer sample ZMIZ2 Q8NF64 VAR_050536 p.Leu408Phe Polymorphism rs3735478 - ZMPSTE24 O75844 VAR_019308 p.Trp340Arg Disease - Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] ZMPSTE24 O75844 VAR_034711 p.Thr137Ala Polymorphism rs17853725 - ZMPSTE24 O75844 VAR_064501 p.Pro248Leu Disease - Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] ZMPSTE24 O75844 VAR_064502 p.Asn265Ser Disease - Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] ZMYM1 Q5SVZ6 VAR_034589 p.Val73Met Polymorphism rs2971408 - ZMYM1 Q5SVZ6 VAR_053767 p.Arg454Gln Polymorphism rs7552714 - ZMYM1 Q5SVZ6 VAR_053768 p.Glu493Gly Polymorphism rs16837197 - ZMYM4 Q5VZL5 VAR_034764 p.Val452Ile Polymorphism rs34924462 - ZMYM4 Q5VZL5 VAR_035672 p.Arg1410Trp Unclassified - A colorectal cancer sample ZMYM5 Q9UJ78 VAR_025508 p.Ile125Val Polymorphism rs9579718 - ZMYM5 Q9UJ78 VAR_025509 p.Cys137Phe Polymorphism rs9579717 - ZMYM5 Q9UJ78 VAR_062160 p.Thr231Ala Polymorphism rs41292167 - ZMYM6 O95789 VAR_044432 p.Lys660Arg Polymorphism rs10158256 - ZMYM6 O95789 VAR_044433 p.Glu1233Lys Polymorphism rs16837147 - ZMYND10 O75800 VAR_014227 p.Arg407Gln Unclassified - Non-small cell lung cancer cell lines ZMYND12 Q9H0C1 VAR_018425 p.Phe316Leu Polymorphism rs1034268 - ZMYND15 Q9H091 VAR_052992 p.Arg401His Polymorphism rs35005394 - ZMYND8 Q9ULU4 VAR_055559 p.Val752Ala Polymorphism rs2275801 - ZNF100 Q8IYN0 VAR_057395 p.Met8Val Polymorphism rs12974842 - ZNF100 Q8IYN0 VAR_060422 p.Thr389Ile Polymorphism rs7246400 - ZNF101 Q8IZC7 VAR_024197 p.Met121Leu Polymorphism rs4808209 - ZNF106 Q9H2Y7 VAR_053440 p.Trp103Arg Polymorphism rs12440118 - ZNF106 Q9H2Y7 VAR_053441 p.Ile646Thr Polymorphism rs12101559 - ZNF106 Q9H2Y7 VAR_053442 p.Met656Val Polymorphism rs34792942 - ZNF106 Q9H2Y7 VAR_053443 p.Pro1162Thr Polymorphism rs34983340 - ZNF10 P21506 VAR_052746 p.Gln227Arg Polymorphism rs11147259 - ZNF112 Q9UJU3 VAR_057377 p.Phe159Leu Polymorphism rs4280359 - ZNF112 Q9UJU3 VAR_057378 p.Gly163Glu Polymorphism rs16978965 - ZNF112 Q9UJU3 VAR_057379 p.Thr287Lys Polymorphism rs10419604 - ZNF112 Q9UJU3 VAR_057380 p.Glu780Ala Polymorphism rs2609881 - ZNF112 Q9UJU3 VAR_060414 p.Pro54Ser Polymorphism rs11673395 - ZNF112 Q9UJU3 VAR_060415 p.Glu446Gln Polymorphism rs2722723 - ZNF112 Q9UJU3 VAR_060416 p.Tyr485His Polymorphism rs2722722 - ZNF114 Q8NC26 VAR_052769 p.His99Asn Polymorphism rs35802964 - ZNF114 Q8NC26 VAR_052770 p.Val207Ala Polymorphism rs16981956 - ZNF117 Q03924 VAR_057396 p.Cys83Tyr Polymorphism rs3807069 - ZNF117 Q03924 VAR_057397 p.Lys112Asn Polymorphism rs3807068 - ZNF132 P52740 VAR_012024 p.Pro252Leu Polymorphism rs1465789 - ZNF132 P52740 VAR_047229 p.Gly203Asp Polymorphism rs1122955 - ZNF133 P52736 VAR_028228 p.Ser193Thr Polymorphism rs1033545 - ZNF133 P52736 VAR_028229 p.Gly194Glu Polymorphism rs2228273 - ZNF134 P52741 VAR_052771 p.Ile30Thr Polymorphism rs10414451 - ZNF134 P52741 VAR_052772 p.Ala46Thr Polymorphism rs10413455 - ZNF134 P52741 VAR_052773 p.Ser207Arg Polymorphism rs34034473 - ZNF135 P52742 VAR_052774 p.Gly22Asp Polymorphism rs1469087 - ZNF135 P52742 VAR_052775 p.Ser507Leu Polymorphism rs2228277 - ZNF135 P52742 VAR_052776 p.Thr517Ala Polymorphism rs2228278 - ZNF135 P52742 VAR_052777 p.Gly579Arg Polymorphism rs2228279 - ZNF135 P52742 VAR_052778 p.Ser592Leu Polymorphism rs2228275 - ZNF136 P52737 VAR_033555 p.Tyr107Cys Polymorphism rs10425995 - ZNF137P P52743 VAR_012025 p.Gln181His Polymorphism rs1802617 - ZNF137P P52743 VAR_033556 p.Arg112Gln Polymorphism rs7250969 - ZNF138 P52744 VAR_057398 p.Gly62Glu Polymorphism rs10949946 - ZNF140 P52738 VAR_046562 p.Ala386Val Polymorphism rs2229373 - ZNF141 Q15928 VAR_012026 p.Arg349Lys Polymorphism rs955417 - ZNF141 Q15928 VAR_012027 p.Lys358Asn Polymorphism rs2018645 - ZNF141 Q15928 VAR_019973 p.Lys124Glu Polymorphism rs2229296 - ZNF142 P52746 VAR_047230 p.Ser751Gly Polymorphism rs3770214 - ZNF142 P52746 VAR_047231 p.Leu956His Polymorphism rs3770213 - ZNF142 P52746 VAR_047232 p.Ala1313Thr Polymorphism rs3821033 - ZNF143 P52747 VAR_027254 p.Glu561Gln Polymorphism rs10743108 - ZNF143 P52747 VAR_061937 p.Gly461Asp Polymorphism rs34972213 - ZNF146 Q15072 VAR_023746 p.Arg8Lys Polymorphism rs2070132 - ZNF14 P17017 VAR_054791 p.Thr274Ser Polymorphism rs12973901 - ZNF14 P17017 VAR_057381 p.Arg379Gln Polymorphism rs3752153 - ZNF154 Q13106 VAR_052779 p.Gly122Val Polymorphism rs2074078 - ZNF154 Q13106 VAR_052780 p.Leu182Val Polymorphism rs2188736 - ZNF154 Q13106 VAR_052781 p.Pro384Leu Polymorphism rs34746514 - ZNF154 Q13106 VAR_060678 p.His57Arg Polymorphism rs34282745 - ZNF155 Q12901 VAR_035571 p.His474Arg Unclassified - A colorectal cancer sample ZNF155 Q12901 VAR_057399 p.Lys379Arg Polymorphism rs2302411 - ZNF155 Q12901 VAR_060272 p.Ile157Phe Polymorphism rs398235 - ZNF155 Q12901 VAR_060273 p.Arg251His Polymorphism rs448921 - ZNF160 Q9HCG1 VAR_057400 p.Arg7Gln Polymorphism rs329709 - ZNF160 Q9HCG1 VAR_060274 p.Pro82Arg Polymorphism rs8105668 - ZNF169 Q14929 VAR_024198 p.Pro72Leu Polymorphism rs1536690 - ZNF169 Q14929 VAR_024199 p.Arg381Cys Polymorphism rs12236219 - ZNF169 Q14929 VAR_059065 p.Glu78Lys Polymorphism rs35177967 - ZNF169 Q14929 VAR_059066 p.Ser152Leu Polymorphism rs34433105 - ZNF169 Q14929 VAR_059067 p.Gln596His Polymorphism rs12350212 - ZNF16 P17020 VAR_024193 p.Glu105Lys Polymorphism rs3735784 - ZNF16 P17020 VAR_024194 p.Arg227His Polymorphism rs3735786 - ZNF175 Q9Y473 VAR_052789 p.Cys505Arg Polymorphism rs3764548 - ZNF175 Q9Y473 VAR_061938 p.Tyr363Asn Polymorphism rs60097262 - ZNF177 Q13360 VAR_031692 p.Asp94Gly Polymorphism rs2230750 - ZNF177 Q13360 VAR_031693 p.Thr112Met Polymorphism rs2217652 - ZNF177 Q13360 VAR_057401 p.Ile455Phe Polymorphism rs2230752 - ZNF17 P17021 VAR_057382 p.Thr148Lys Polymorphism rs2014827 - ZNF180 Q9UJW8 VAR_030864 p.Ala41Val Polymorphism rs2571108 - ZNF180 Q9UJW8 VAR_030865 p.Trp89Cys Polymorphism rs2253563 - ZNF180 Q9UJW8 VAR_030866 p.Cys272Ser Polymorphism rs1897820 - ZNF184 Q99676 VAR_045989 p.Ala27Ser Polymorphism rs1883216 - ZNF189 O75820 VAR_025403 p.Arg221Lys Polymorphism rs10989492 - ZNF18 P17022 VAR_024835 p.Gln210Arg Polymorphism rs17857095 - ZNF18 P17022 VAR_024836 p.Met240Ile Polymorphism rs17853545 - ZNF19 P17023 VAR_054792 p.Gln218His Polymorphism rs8050871 - ZNF19 P17023 VAR_054793 p.Arg224Gln Polymorphism rs10500557 - ZNF200 P98182 VAR_052790 p.Thr140Met Polymorphism rs9302870 - ZNF202 O95125 VAR_007818 p.Val154Ala Polymorphism rs1144507 - ZNF202 O95125 VAR_023975 p.Gly533Ala Polymorphism rs34111365 - ZNF205 O95201 VAR_028798 p.Thr43Ala Polymorphism rs909410 - ZNF205 O95201 VAR_028799 p.Ala255Asp Polymorphism rs12445220 - ZNF207 O43670 VAR_019974 p.Ala224Ser Polymorphism rs3795244 - ZNF208 O43345 VAR_052791 p.Glu282Lys Polymorphism rs2007506 - ZNF208 O43345 VAR_052792 p.Ser298Leu Polymorphism rs12462668 - ZNF208 O43345 VAR_052793 p.Glu456Gln Polymorphism rs7255075 - ZNF208 O43345 VAR_059903 p.Lys540Glu Polymorphism rs10425763 - ZNF208 O43345 VAR_059904 p.Asp907Gly Polymorphism rs8108957 - ZNF208 O43345 VAR_059905 p.Leu1165His Polymorphism rs2359812 - ZNF211 Q13398 VAR_047278 p.Asp110Asn Polymorphism rs34897843 - ZNF211 Q13398 VAR_057402 p.Ala314Val Polymorphism rs11879465 - ZNF212 Q9UDV6 VAR_052794 p.His293Tyr Polymorphism rs34185245 - ZNF214 Q9UL59 VAR_019975 p.Leu128His Polymorphism rs1156525 - ZNF214 Q9UL59 VAR_019976 p.Ile185Arg Polymorphism rs2239734 - ZNF214 Q9UL59 VAR_057403 p.Tyr66Cys Polymorphism rs1156526 - ZNF214 Q9UL59 VAR_057404 p.His160Arg Polymorphism rs16921097 - ZNF215 Q9UL58 VAR_021890 p.Met376Val Polymorphism rs2239729 - ZNF215 Q9UL58 VAR_024200 p.Met119Val Polymorphism rs11041108 - ZNF215 Q9UL58 VAR_057405 p.Asn36Ser Polymorphism rs11041107 - ZNF215 Q9UL58 VAR_057406 p.Val38Ile Polymorphism rs35111903 - ZNF215 Q9UL58 VAR_057407 p.Ser263Phe Polymorphism rs11041115 - ZNF215 Q9UL58 VAR_060423 p.Val323Leu Polymorphism rs2239730 - ZNF217 O75362 VAR_035572 p.Asp323Asn Unclassified - A colorectal cancer sample ZNF217 O75362 VAR_052795 p.Val739Ile Polymorphism rs6063966 - ZNF217 O75362 VAR_061939 p.Asp889Gly Polymorphism rs34323943 - ZNF221 Q9UK13 VAR_024201 p.Ala337Pro Polymorphism rs435590 - ZNF221 Q9UK13 VAR_024202 p.Ser519Thr Polymorphism rs365745 - ZNF221 Q9UK13 VAR_024203 p.Gly557Arg Polymorphism rs366111 - ZNF221 Q9UK13 VAR_033557 p.Val165Met Polymorphism rs16976937 - ZNF221 Q9UK13 VAR_033558 p.Phe179Ile Polymorphism rs454301 - ZNF221 Q9UK13 VAR_033559 p.Cys256Arg Polymorphism rs439676 - ZNF222 Q9UK12 VAR_052796 p.Lys50Glu Polymorphism rs11880330 - ZNF222 Q9UK12 VAR_052797 p.Val58Phe Polymorphism rs7258517 - ZNF222 Q9UK12 VAR_052798 p.Gly263Asp Polymorphism rs8112679 - ZNF222 Q9UK12 VAR_061940 p.Arg82Gly Polymorphism rs59926292 - ZNF223 Q9UK11 VAR_060424 p.Leu60Ile Polymorphism rs4130101 - ZNF223 Q9UK11 VAR_060425 p.Leu138Ile Polymorphism rs6509138 - ZNF224 Q9NZL3 VAR_021891 p.Lys640Glu Polymorphism rs3746319 - ZNF224 Q9NZL3 VAR_024204 p.His162Leu Polymorphism rs4239529 - ZNF224 Q9NZL3 VAR_047061 p.Met118Val Polymorphism rs2068061 - ZNF224 Q9NZL3 VAR_047062 p.Lys438Asn Polymorphism rs3208201 - ZNF224 Q9NZL3 VAR_047063 p.His506Asp Polymorphism rs3746323 - ZNF224 Q9NZL3 VAR_061941 p.Gln447His Polymorphism rs58935748 - ZNF225 Q9UK10 VAR_033560 p.Gln50Arg Polymorphism rs34863330 - ZNF225 Q9UK10 VAR_033561 p.Thr679Ser Polymorphism rs16978738 - ZNF229 Q9UJW7 VAR_057408 p.Ser156Phe Polymorphism rs2571174 - ZNF229 Q9UJW7 VAR_057409 p.Arg337Cys Polymorphism rs12151338 - ZNF229 Q9UJW7 VAR_060426 p.Gly662Arg Polymorphism rs1434579 - ZNF229 Q9UJW7 VAR_060427 p.Gly804Arg Polymorphism rs10409807 - ZNF229 Q9UJW7 VAR_061942 p.Ser417Asn Polymorphism rs57014690 - ZNF22 P17026 VAR_035566 p.His129Leu Unclassified - A breast cancer sample ZNF22 P17026 VAR_052747 p.Ser65Gly Polymorphism rs3740093 - ZNF230 Q9UIE0 VAR_014827 p.Asp441Glu Polymorphism rs12753 - ZNF230 Q9UIE0 VAR_030534 p.Ser310Cys Polymorphism rs1060877 - ZNF230 Q9UIE0 VAR_030535 p.Phe434Tyr Polymorphism rs6413542 - ZNF232 Q9UNY5 VAR_035573 p.Ala123Val Unclassified - A colorectal cancer sample ZNF233 A6NK53 VAR_035022 p.Ser247Pro Polymorphism rs16978899 - ZNF233 A6NK53 VAR_035023 p.Lys531Thr Polymorphism rs1233428 - ZNF234 Q14588 VAR_019977 p.Val16Ile Polymorphism rs2293587 - ZNF234 Q14588 VAR_052799 p.Val208Met Polymorphism rs11668974 - ZNF235 Q14590 VAR_029806 p.His296Pro Polymorphism rs2125579 - ZNF236 Q9UL36 VAR_057410 p.Ser166Leu Polymorphism rs2276211 - ZNF236 Q9UL36 VAR_057411 p.Pro614Ser Polymorphism rs8093707 - ZNF236 Q9UL36 VAR_057412 p.Ser643Gly Polymorphism rs3794873 - ZNF236 Q9UL36 VAR_057413 p.Ala818Thr Polymorphism rs3752078 - ZNF236 Q9UL36 VAR_065094 p.Ile613Val Polymorphism rs608433 - ZNF238 Q99592 VAR_012768 p.Glu132Gly Polymorphism rs1048824 - ZNF239 Q16600 VAR_024205 p.Ala172Gly Polymorphism rs2230660 - ZNF239 Q16600 VAR_024206 p.Cys209Gly Polymorphism rs2230661 - ZNF239 Q16600 VAR_025536 p.Asp266Glu Polymorphism rs1128865 - ZNF23 P17027 VAR_024195 p.Ser28Gly Polymorphism rs2070832 - ZNF248 Q8NDW4 VAR_052800 p.Lys218Glu Polymorphism rs11011379 - ZNF24 P17028 VAR_012017 p.Asn220Ser Polymorphism rs2032729 - ZNF24 P17028 VAR_012018 p.Gly331Trp Polymorphism rs3568 - ZNF252P-A Q0IIN9 VAR_032035 p.Leu84Ile Polymorphism rs2294043 - ZNF254 O75437 VAR_047461 p.Asp93Gly Polymorphism rs17854260 - ZNF254 O75437 VAR_047462 p.Ala386Thr Polymorphism rs403356 - ZNF254 O75437 VAR_047463 p.Thr457Ala Polymorphism rs2925930 - ZNF254 O75437 VAR_047464 p.Val594Ile Polymorphism rs2446056 - ZNF254 O75437 VAR_059906 p.Lys537Asn Polymorphism rs12611425 - ZNF256 Q9Y2P7 VAR_058326 p.Phe304Ile Polymorphism rs953619 - ZNF259 O75312 VAR_052999 p.Ala264Val Polymorphism rs35120633 - ZNF25 P17030 VAR_035567 p.Glu21Lys Unclassified - A breast cancer sample ZNF25 P17030 VAR_035568 p.Asp81Gly Unclassified - A breast cancer sample ZNF25 P17030 VAR_052748 p.Asn453Lys Polymorphism rs1208606 - ZNF263 O14978 VAR_052801 p.Cys310Ser Polymorphism rs220379 - ZNF263 O14978 VAR_052802 p.Val534Ile Polymorphism rs34236132 - ZNF263 O14978 VAR_061943 p.Arg646Gln Polymorphism rs57710602 - ZNF264 O43296 VAR_052803 p.Arg181Thr Polymorphism rs2074858 - ZNF264 O43296 VAR_052804 p.Arg183His Polymorphism rs917340 - ZNF266 Q14584 VAR_014828 p.Pro519Leu Polymorphism rs10515 - ZNF267 Q14586 VAR_057414 p.Met257Val Polymorphism rs7202455 - ZNF267 Q14586 VAR_059907 p.Cys350Tyr Polymorphism rs3850114 - ZNF268 Q14587 VAR_033562 p.Thr175Met Polymorphism rs7975069 - ZNF273 Q14593 VAR_059077 p.Gly454Glu Polymorphism rs1830080 - ZNF273 Q14593 VAR_059078 p.Glu461Asp Polymorphism rs2017252 - ZNF274 Q96GC6 VAR_064920 p.Val147Ile Polymorphism rs7256349 - ZNF276 Q8N554 VAR_019125 p.Arg275Trp Unclassified - - ZNF276 Q8N554 VAR_019126 p.Glu605Asp Polymorphism rs17227424 - ZNF276 Q8N554 VAR_032708 p.Trp263Arg Polymorphism rs6500437 - ZNF276 Q8N554 VAR_032709 p.Arg351Trp Polymorphism rs17719249 - ZNF277 Q9NRM2 VAR_035574 p.Ile332Leu Unclassified - A breast cancer sample ZNF277 Q9NRM2 VAR_035575 p.Leu445Phe Unclassified - A breast cancer sample ZNF277 Q9NRM2 VAR_057415 p.Val364Met Polymorphism rs11539696 - ZNF277 Q9NRM2 VAR_059908 p.Val174Ile Polymorphism rs34571830 - ZNF280A P59817 VAR_028218 p.Lys71Asn Polymorphism rs361959 - ZNF280A P59817 VAR_028219 p.Asn136Ser Polymorphism rs362011 - ZNF280A P59817 VAR_028220 p.Tyr137Ser Polymorphism rs361580 - ZNF280A P59817 VAR_028221 p.Asn246Ser Polymorphism rs362132 - ZNF280A P59817 VAR_028222 p.Gly249Ala Polymorphism rs362124 - ZNF280A P59817 VAR_028223 p.Leu276Phe Polymorphism rs16989015 - ZNF280A P59817 VAR_028224 p.Asn278Asp Polymorphism rs362003 - ZNF280A P59817 VAR_028225 p.Phe486Leu Polymorphism rs361762 - ZNF280A P59817 VAR_028226 p.Arg488Ser Polymorphism rs361666 - ZNF280B Q86YH2 VAR_028013 p.Glu256Ala Polymorphism rs2236729 - ZNF280B Q86YH2 VAR_028014 p.Val522Gly Polymorphism rs12484816 - ZNF280D Q6N043 VAR_054314 p.Val568Ile Polymorphism rs28620278 - ZNF280D Q6N043 VAR_054315 p.Ala778Val Polymorphism rs12900993 - ZNF280D Q6N043 VAR_054316 p.Lys781Ile Polymorphism rs12901843 - ZNF280D Q6N043 VAR_054317 p.Gly785Ala Polymorphism rs12900729 - ZNF281 Q9Y2X9 VAR_035576 p.Ile527Thr Unclassified - A breast cancer sample ZNF282 Q9UDV7 VAR_052805 p.Met273Val Polymorphism rs1202418 - ZNF283 Q8N7M2 VAR_057416 p.Arg629His Polymorphism rs1061768 - ZNF283 Q8N7M2 VAR_057417 p.Arg646Ile Polymorphism rs10417624 - ZNF283 Q8N7M2 VAR_060605 p.Thr314Ile Polymorphism rs2195980 - ZNF283 Q8N7M2 VAR_060606 p.Cys638Arg Polymorphism rs2356437 - ZNF283 Q8N7M2 VAR_060607 p.Cys638Tyr Polymorphism rs1061769 - ZNF284 Q2VY69 VAR_031135 p.Lys546Glu Polymorphism rs8113249 - ZNF284 Q2VY69 VAR_059909 p.Glu577Lys Polymorphism rs8113249 - ZNF285 Q96NJ3 VAR_057972 p.Asn208Ser Polymorphism rs2571089 - ZNF285 Q96NJ3 VAR_057973 p.Arg536Gly Polymorphism rs12610859 - ZNF286A Q9HBT8 VAR_021892 p.Tyr90His Polymorphism rs3760299 - ZNF287 Q9HBT7 VAR_024207 p.Lys274Thr Polymorphism rs7224723 - ZNF28 P17035 VAR_036841 p.Arg179Gly Polymorphism rs13382164 - ZNF28 P17035 VAR_036842 p.Lys465Gln Polymorphism rs10417163 - ZNF28 P17035 VAR_036843 p.Met524Thr Polymorphism rs8107444 - ZNF292 O60281 VAR_062972 p.Ile1740Val Polymorphism rs9362415 - ZNF292 O60281 VAR_062973 p.Val2045Ile Polymorphism rs6910541 - ZNF300 Q96RE9 VAR_012355 p.Gln336His Polymorphism rs1988688 - ZNF304 Q9HCX3 VAR_019979 p.Leu121Pro Polymorphism rs862708 - ZNF304 Q9HCX3 VAR_033563 p.Lys367Glu Polymorphism rs862709 - ZNF30 P17039 VAR_047736 p.Gln123Arg Polymorphism rs1811 - ZNF30 P17039 VAR_047737 p.Ala190Thr Polymorphism rs8100497 - ZNF30 P17039 VAR_047738 p.Arg379Lys Polymorphism rs1345658 - ZNF30 P17039 VAR_047739 p.Tyr400Cys Polymorphism rs765746 - ZNF311 Q5JNZ3 VAR_031136 p.Arg486Cys Polymorphism rs9295783 - ZNF311 Q5JNZ3 VAR_031137 p.Lys511Gln Polymorphism rs6456880 - ZNF317 Q96PQ6 VAR_019980 p.Gln19His Polymorphism rs3752199 - ZNF318 Q5VUA4 VAR_036056 p.Asn812Ser Unclassified - A breast cancer sample ZNF318 Q5VUA4 VAR_036057 p.Gly1274Arg Unclassified - A breast cancer sample ZNF318 Q5VUA4 VAR_053759 p.Ser407Ile Polymorphism rs34541323 - ZNF318 Q5VUA4 VAR_053760 p.Leu870Val Polymorphism rs9357410 - ZNF318 Q5VUA4 VAR_053761 p.Thr1292Ile Polymorphism rs10948072 - ZNF318 Q5VUA4 VAR_053762 p.Ala1580Thr Polymorphism rs3734684 - ZNF318 Q5VUA4 VAR_053763 p.Thr1583Ile Polymorphism rs36107018 - ZNF318 Q5VUA4 VAR_053764 p.Val1797Ala Polymorphism rs1459675 - ZNF324B Q6AW86 VAR_052811 p.Ser63Gly Polymorphism rs12611254 - ZNF329 Q86UD4 VAR_035403 p.Asn182Asp Polymorphism rs34255209 - ZNF329 Q86UD4 VAR_060428 p.Ser99Asn Polymorphism rs2279333 - ZNF330 Q9Y3S2 VAR_051500 p.Thr28Ala Polymorphism rs35353789 - ZNF330 Q9Y3S2 VAR_051501 p.Leu298Met Polymorphism rs34631212 - ZNF333 Q96JL9 VAR_024210 p.Ala251Glu Polymorphism rs3885179 - ZNF333 Q96JL9 VAR_052812 p.Ala537Val Polymorphism rs3764626 - ZNF334 Q9HCZ1 VAR_052813 p.Asn547Ser Polymorphism rs3764690 - ZNF335 Q9H4Z2 VAR_024211 p.Ser294Thr Polymorphism rs6032606 - ZNF335 Q9H4Z2 VAR_047560 p.Arg65Cys Polymorphism rs6130982 - ZNF335 Q9H4Z2 VAR_047561 p.Gly101Ser Polymorphism rs6094231 - ZNF335 Q9H4Z2 VAR_047562 p.Tyr603His Polymorphism rs16990961 - ZNF337 Q9Y3M9 VAR_024213 p.Val17Ile Polymorphism rs926487 - ZNF337 Q9Y3M9 VAR_052814 p.Arg467Gly Polymorphism rs16987972 - ZNF33A Q06730 VAR_052749 p.Gln549Glu Polymorphism rs2505232 - ZNF33A Q06730 VAR_052750 p.Gly614Arg Polymorphism rs12256916 - ZNF33A Q06730 VAR_052751 p.Asp804His Polymorphism rs10508862 - ZNF33B Q06732 VAR_024192 p.Arg145Cys Polymorphism rs210280 - ZNF33B Q06732 VAR_052752 p.His356Arg Polymorphism rs7914982 - ZNF343 Q6P1L6 VAR_059912 p.Pro520Leu Polymorphism rs6049415 - ZNF347 Q96SE7 VAR_052815 p.Met117Val Polymorphism rs34656962 - ZNF347 Q96SE7 VAR_059913 p.Asn264Asp Polymorphism rs2195310 - ZNF350 Q9GZX5 VAR_019902 p.Leu66Pro Polymorphism rs2278420 - ZNF350 Q9GZX5 VAR_019903 p.Ser472Pro Polymorphism rs4986771 - ZNF350 Q9GZX5 VAR_019904 p.Arg501Ser Polymorphism rs2278415 - ZNF350 Q9GZX5 VAR_019905 p.Val524Ile Polymorphism rs4988337 - ZNF350 Q9GZX5 VAR_046718 p.Met37Ile Polymorphism rs4987241 - ZNF350 Q9GZX5 VAR_046719 p.Ile69Thr Polymorphism rs4987042 - ZNF350 Q9GZX5 VAR_046720 p.Arg132Cys Polymorphism rs28997584 - ZNF350 Q9GZX5 VAR_046721 p.Glu406Lys Polymorphism rs3764539 - ZNF354C Q86Y25 VAR_031138 p.Glu250Lys Polymorphism rs17855823 - ZNF354C Q86Y25 VAR_031139 p.Phe546Leu Polymorphism rs1445846 - ZNF354C Q86Y25 VAR_031140 p.Glu553Lys Polymorphism rs1445845 - ZNF358 Q9NW07 VAR_061944 p.Asn32Ser Polymorphism rs11555037 - ZNF365 Q70YC4 VAR_024326 p.Thr62Ala Polymorphism rs7076156 - ZNF365 Q70YC5 VAR_024325 p.Ala337Ser Polymorphism rs3758490 - ZNF366 Q8N895 VAR_033564 p.Ala739Gly Polymorphism rs13188519 - ZNF37A P17032 VAR_052753 p.Asp105Asn Polymorphism rs2021319 - ZNF382 Q96SR6 VAR_054226 p.Glu168Gly Polymorphism rs3108171 - ZNF385B Q569K4 VAR_053765 p.Ser242Gly Polymorphism rs2271761 - ZNF385D Q9H6B1 VAR_036058 p.Ala386Thr Unclassified - A colorectal cancer sample ZNF385D Q9H6B1 VAR_036059 p.His387Gln Unclassified - A colorectal cancer sample ZNF391 Q9UJN7 VAR_034774 p.Lys51Arg Polymorphism rs10807020 - ZNF391 Q9UJN7 VAR_034775 p.Gly59Cys Polymorphism rs10807021 - ZNF394 Q53GI3 VAR_052816 p.Thr325Met Polymorphism rs3735454 - ZNF396 Q96N95 VAR_057418 p.His211Leu Polymorphism rs9963473 - ZNF398 Q8TD17 VAR_052817 p.Glu87Asp Polymorphism rs3801979 - ZNF398 Q8TD17 VAR_052818 p.Ser294Leu Polymorphism rs2240370 - ZNF3 P17036 VAR_052743 p.Ile102Thr Polymorphism rs11550034 - ZNF404 Q494X3 VAR_057419 p.His233Tyr Polymorphism rs12977303 - ZNF407 Q9C0G0 VAR_036694 p.Asn972Thr Polymorphism rs948615 - ZNF407 Q9C0G0 VAR_052820 p.Asn69Ser Polymorphism rs3794942 - ZNF407 Q9C0G0 VAR_052821 p.Gly512Arg Polymorphism rs7227263 - ZNF407 Q9C0G0 VAR_052822 p.Ala1913Thr Polymorphism rs17056248 - ZNF407 Q9C0G0 VAR_061945 p.Ser1259Leu Polymorphism rs34048449 - ZNF408 Q9H9D4 VAR_052823 p.Arg337Pro Polymorphism rs36017347 - ZNF414 Q96IQ9 VAR_026847 p.Gln65Arg Polymorphism rs8100431 - ZNF414 Q96IQ9 VAR_026848 p.Pro77Ser Polymorphism rs1064010 - ZNF415 Q09FC8 VAR_032166 p.His196Pro Polymorphism rs16984466 - ZNF415 Q09FC8 VAR_032167 p.Ile229Leu Polymorphism rs1054485 - ZNF415 Q09FC8 VAR_032168 p.Ile233Val Polymorphism rs1133327 - ZNF415 Q09FC8 VAR_032169 p.Tyr241Cys Polymorphism rs1560099 - ZNF415 Q09FC8 VAR_032170 p.Asn463Asp Polymorphism rs10410030 - ZNF417 Q8TAU3 VAR_060275 p.Asn495Ser Polymorphism rs10416584 - ZNF419 Q96HQ0 VAR_046651 p.Glu141Gln Polymorphism rs2074076 - ZNF419 Q96HQ0 VAR_046652 p.Ile336Val Polymorphism rs2074077 - ZNF41 P51814 VAR_021785 p.Pro153Leu Disease - Mental retardation X-linked type 89 (MRX89) [MIM:300848] ZNF41 P51814 VAR_021786 p.Ile167Arg Polymorphism rs17147624 - ZNF41 P51814 VAR_021787 p.Asp357Glu Polymorphism rs2498170 - ZNF423 Q2M1K9 VAR_036844 p.Asn629Ser Polymorphism rs34214571 - ZNF425 Q6IV72 VAR_033565 p.Asp166Val Polymorphism rs6965052 - ZNF426 Q9BUY5 VAR_024214 p.Ala4Val Polymorphism rs2042200 - ZNF426 Q9BUY5 VAR_052824 p.Thr219Ala Polymorphism rs10420644 - ZNF429 Q86V71 VAR_047848 p.His650Tyr Polymorphism rs2562473 - ZNF431 Q8TF32 VAR_052825 p.Asp3Gly Polymorphism rs17445374 - ZNF432 O94892 VAR_035577 p.Leu416Val Unclassified - A breast cancer sample ZNF432 O94892 VAR_035578 p.Cys490Tyr Unclassified - A breast cancer sample ZNF436 Q9C0F3 VAR_035579 p.Cys196Gly Unclassified - A breast cancer sample ZNF438 Q7Z4V0 VAR_027013 p.Pro173Ser Polymorphism rs10160116 - ZNF438 Q7Z4V0 VAR_035580 p.Lys381Asn Unclassified - A breast cancer sample ZNF438 Q7Z4V0 VAR_061946 p.Leu693Val Polymorphism rs35346752 - ZNF439 Q8NDP4 VAR_024216 p.Leu427Ser Polymorphism rs10500209 - ZNF439 Q8NDP4 VAR_052827 p.Pro6Ser Polymorphism rs10421552 - ZNF43 P17038 VAR_035569 p.Arg244Cys Unclassified - A colorectal cancer sample ZNF43 P17038 VAR_054794 p.Ser718Pro Polymorphism rs1063327 - ZNF440 Q8IYI8 VAR_052828 p.Pro88Arg Polymorphism rs448446 - ZNF440 Q8IYI8 VAR_052829 p.Ser569Asn Polymorphism rs400106 - ZNF440 Q8IYI8 VAR_059915 p.Leu43Ile Polymorphism rs424132 - ZNF440 Q8IYI8 VAR_059916 p.Asn124Ser Polymorphism rs427880 - ZNF442 Q9H7R0 VAR_024217 p.Pro110Thr Polymorphism rs10415207 - ZNF442 Q9H7R0 VAR_024218 p.Arg443Cys Polymorphism rs10500210 - ZNF442 Q9H7R0 VAR_035581 p.Pro152Ser Unclassified rs10414971 A colorectal cancer sample ZNF442 Q9H7R0 VAR_035582 p.Cys243Ser Unclassified - A colorectal cancer sample ZNF442 Q9H7R0 VAR_052830 p.Ile93Val Polymorphism rs10423273 - ZNF442 Q9H7R0 VAR_052831 p.Gly422Arg Polymorphism rs11085808 - ZNF442 Q9H7R0 VAR_064763 p.His590Leu Unclassified - - ZNF443 Q9Y2A4 VAR_057420 p.Pro591Gln Polymorphism rs7256321 - ZNF443 Q9Y2A4 VAR_059917 p.Lys111Asn Polymorphism rs4239550 - ZNF443 Q9Y2A4 VAR_059918 p.Cys485Phe Polymorphism rs10422063 - ZNF443 Q9Y2A4 VAR_061947 p.Lys111Ile Polymorphism rs28599549 - ZNF443 Q9Y2A4 VAR_061948 p.Gln397His Polymorphism rs35699767 - ZNF445 P59923 VAR_052832 p.Tyr428Cys Polymorphism rs11710965 - ZNF446 Q9NWS9 VAR_033566 p.Asn192His Polymorphism rs893185 - ZNF446 Q9NWS9 VAR_033567 p.Pro300Ser Polymorphism rs36095067 - ZNF446 Q9NWS9 VAR_052833 p.Arg387His Polymorphism rs882610 - ZNF44 P15621 VAR_047425 p.Gly92Ala Polymorphism rs11882046 - ZNF44 P15621 VAR_047426 p.Thr212Ala Polymorphism rs11879168 - ZNF454 Q8N9F8 VAR_033568 p.Asp166Ala Polymorphism rs12719860 - ZNF454 Q8N9F8 VAR_059919 p.Cys152Tyr Polymorphism rs6867221 - ZNF45 Q02386 VAR_012019 p.Ala187Thr Polymorphism rs1047452 - ZNF45 Q02386 VAR_012020 p.Arg255Lys Polymorphism rs399098 - ZNF45 Q02386 VAR_012021 p.Thr299Ala Polymorphism rs388706 - ZNF45 Q02386 VAR_012022 p.Pro303Arg Polymorphism rs388685 - ZNF45 Q02386 VAR_012023 p.Arg504Lys Polymorphism rs407731 - ZNF461 Q8TAF7 VAR_052834 p.Asn87Ser Polymorphism rs10419469 - ZNF462 Q96JM2 VAR_058301 p.Met404Val Polymorphism rs17723637 - ZNF462 Q96JM2 VAR_058302 p.Pro1187Ser Polymorphism rs3814541 - ZNF462 Q96JM2 VAR_058303 p.Asn1828Ser Polymorphism rs3814538 - ZNF462 Q96JM2 VAR_058304 p.Lys2052Arg Polymorphism rs7020769 - ZNF462 Q96JM2 VAR_058305 p.His2452Leu Polymorphism rs10217192 - ZNF467 Q7Z7K2 VAR_052835 p.Thr324Ala Polymorphism rs6965332 - ZNF468 Q5VIY5 VAR_031141 p.His374Arg Polymorphism rs12462929 - ZNF468 Q5VIY5 VAR_031142 p.Gly477Arg Polymorphism rs10419826 - ZNF469 Q96JG9 VAR_033285 p.Arg366Ser Polymorphism rs11640794 - ZNF469 Q96JG9 VAR_033286 p.Lys1162Glu Polymorphism rs7197071 - ZNF469 Q96JG9 VAR_033287 p.Pro1420Leu Polymorphism rs4782300 - ZNF469 Q96JG9 VAR_033288 p.Arg2129Lys Polymorphism rs13334190 - ZNF469 Q96JG9 VAR_033289 p.Gly2358Arg Polymorphism rs12598474 - ZNF469 Q96JG9 VAR_033290 p.Leu2670Gln Polymorphism rs3812956 - ZNF469 Q96JG9 VAR_033291 p.Ala2710Thr Polymorphism rs3812955 - ZNF469 Q96JG9 VAR_033292 p.Asp2749Val Polymorphism rs3812954 - ZNF469 Q96JG9 VAR_033293 p.His2848Arg Polymorphism rs1983014 - ZNF469 Q96JG9 VAR_033294 p.Glu3630Gln Polymorphism rs1105066 - ZNF469 Q96JG9 VAR_033295 p.Thr3636Ala Polymorphism rs904783 - ZNF469 Q96JG9 VAR_061949 p.Ser357Pro Polymorphism rs11648572 - ZNF470 Q6ECI4 VAR_031143 p.Val23Leu Polymorphism rs10421285 - ZNF470 Q6ECI4 VAR_031144 p.Lys254Arg Polymorphism rs3752179 - ZNF470 Q6ECI4 VAR_031145 p.Thr418Ile Polymorphism rs4801177 - ZNF470 Q6ECI4 VAR_061950 p.Ile642Thr Polymorphism rs35077804 - ZNF471 Q9BX82 VAR_035583 p.Phe361Cys Unclassified - A colorectal cancer sample ZNF471 Q9BX82 VAR_052836 p.Met192Ile Polymorphism rs11667052 - ZNF471 Q9BX82 VAR_052837 p.Gly406Asp Polymorphism rs3752176 - ZNF471 Q9BX82 VAR_052838 p.Ser556Cys Polymorphism rs16987303 - ZNF471 Q9BX82 VAR_061951 p.Gln309Arg Polymorphism rs45487092 - ZNF473 Q8WTR7 VAR_052839 p.Ser59Gly Polymorphism rs10419876 - ZNF473 Q8WTR7 VAR_052840 p.Ser74Gly Polymorphism rs10419911 - ZNF473 Q8WTR7 VAR_052841 p.Thr164Met Polymorphism rs16981705 - ZNF473 Q8WTR7 VAR_052842 p.Glu309Gly Polymorphism rs16981706 - ZNF473 Q8WTR7 VAR_052843 p.Thr654Ile Polymorphism rs10424809 - ZNF473 Q8WTR7 VAR_052844 p.Ser662Ala Polymorphism rs10426374 - ZNF474 Q6S9Z5 VAR_031146 p.Arg173His Polymorphism rs2560306 - ZNF480 Q8WV37 VAR_033569 p.Pro177Ser Polymorphism rs13343641 - ZNF480 Q8WV37 VAR_035584 p.His361Gln Unclassified - A colorectal cancer sample ZNF484 Q5JVG2 VAR_033570 p.Gly502Asp Polymorphism rs3739602 - ZNF485 Q8NCK3 VAR_059920 p.Ala252Thr Polymorphism rs12354886 - ZNF487P B1APH4 VAR_045635 p.Pro61Arg Polymorphism rs11816311 - ZNF487P B1APH4 VAR_045636 p.Arg120Ser Polymorphism rs11598660 - ZNF488 Q96MN9 VAR_033571 p.Ala72Val Polymorphism rs35618062 - ZNF488 Q96MN9 VAR_033572 p.Pro106Leu Polymorphism rs12251609 - ZNF488 Q96MN9 VAR_033573 p.Pro249Ser Polymorphism rs3814160 - ZNF48 Q96MX3 VAR_052758 p.Ala65Val Polymorphism rs12921440 - ZNF48 Q96MX3 VAR_052759 p.Ile224Val Polymorphism rs34843513 - ZNF48 Q96MX3 VAR_059894 p.Gln21Arg Polymorphism rs7200143 - ZNF492 Q9P255 VAR_052845 p.Thr106Lys Polymorphism rs11672238 - ZNF493 Q6ZR52 VAR_052846 p.Cys195Phe Polymorphism rs4621113 - ZNF493 Q6ZR52 VAR_052847 p.Leu292Val Polymorphism rs10414834 - ZNF497 Q6ZNH5 VAR_055270 p.His174Gln Polymorphism rs12609654 - ZNF501 Q96CX3 VAR_024219 p.Met17Val Polymorphism rs4682752 - ZNF501 Q96CX3 VAR_061952 p.Ile147Val Polymorphism rs58211979 - ZNF502 Q8TBZ5 VAR_024220 p.Glu243Ala Polymorphism rs7640654 - ZNF502 Q8TBZ5 VAR_033574 p.Leu28Pro Polymorphism rs6798400 - ZNF502 Q8TBZ5 VAR_061953 p.Gln174Arg Polymorphism rs56084453 - ZNF503 Q96F45 VAR_032951 p.Asn509Lys Polymorphism rs35764982 - ZNF506 Q5JVG8 VAR_057421 p.Thr189Pro Polymorphism rs16996376 - ZNF510 Q9Y2H8 VAR_019982 p.Gln43Arg Polymorphism rs2289651 - ZNF510 Q9Y2H8 VAR_021893 p.Cys89Arg Polymorphism rs3780548 - ZNF510 Q9Y2H8 VAR_052848 p.Asn273Lys Polymorphism rs10217154 - ZNF510 Q9Y2H8 VAR_052849 p.His398Asp Polymorphism rs11999094 - ZNF510 Q9Y2H8 VAR_052850 p.Met401Ile Polymorphism rs10217494 - ZNF510 Q9Y2H8 VAR_052851 p.Gly634Glu Polymorphism rs10119874 - ZNF512B Q96KM6 VAR_024226 p.Met372Val Polymorphism rs817326 - ZNF512B Q96KM6 VAR_024227 p.Ala453Thr Polymorphism rs6062599 - ZNF512B Q96KM6 VAR_061954 p.Val288Met Polymorphism rs45486695 - ZNF513 Q8N8E2 VAR_064926 p.Cys339Arg Disease - Retinitis pigmentosa type 58 (RP58) [MIM:613617] ZNF516 Q92618 VAR_052852 p.Asn4Ser Polymorphism rs3752097 - ZNF516 Q92618 VAR_052853 p.Gly239Ser Polymorphism rs12961584 - ZNF517 Q6ZMY9 VAR_057425 p.Pro6Leu Polymorphism rs2976649 - ZNF518A Q6AHZ1 VAR_046310 p.Asn946His Polymorphism rs3814228 - ZNF518A Q6AHZ1 VAR_046311 p.Arg1328Gln Polymorphism rs3814226 - ZNF518B Q9C0D4 VAR_038491 p.Ser105Pro Polymorphism rs10016702 - ZNF518B Q9C0D4 VAR_038492 p.Ser523Asn Polymorphism rs9291410 - ZNF518B Q9C0D4 VAR_061955 p.Gly92Ser Polymorphism rs10007352 - ZNF519 Q8TB69 VAR_052854 p.Trp18Arg Polymorphism rs16941623 - ZNF519 Q8TB69 VAR_052855 p.Gly89Ser Polymorphism rs10221432 - ZNF519 Q8TB69 VAR_052856 p.Lys206Glu Polymorphism rs2159940 - ZNF519 Q8TB69 VAR_052857 p.Arg229Ile Polymorphism rs8094412 - ZNF526 Q8TF50 VAR_035331 p.Val94Ala Polymorphism rs3810151 - ZNF526 Q8TF50 VAR_035332 p.Ser511Phe Polymorphism rs17850994 - ZNF528 Q3MIS6 VAR_052858 p.Ser419Asn Polymorphism rs324109 - ZNF529 Q6P280 VAR_031147 p.Val98Leu Polymorphism rs2912444 - ZNF530 Q6P9A1 VAR_035144 p.Thr64Ala Polymorphism rs9677004 - ZNF530 Q6P9A1 VAR_035145 p.His110Gln Polymorphism rs2360543 - ZNF530 Q6P9A1 VAR_035146 p.Ser124Pro Polymorphism rs17855076 - ZNF530 Q6P9A1 VAR_035147 p.Thr169Met Polymorphism rs11883343 - ZNF530 Q6P9A1 VAR_035148 p.Gly262Ser Polymorphism rs9676259 - ZNF532 Q9HCE3 VAR_034846 p.Glu761Asp Polymorphism rs3737506 - ZNF532 Q9HCE3 VAR_035585 p.Ser822Leu Unclassified - A breast cancer sample ZNF540 Q8NDQ6 VAR_033575 p.Asp53Val Polymorphism rs1975937 - ZNF540 Q8NDQ6 VAR_035586 p.Lys275Ile Unclassified - A colorectal cancer sample ZNF541 Q9H0D2 VAR_035717 p.Ser712Leu Unclassified - A breast cancer sample ZNF541 Q9H0D2 VAR_054220 p.Pro486Ser Polymorphism rs3810320 - ZNF541 Q9H0D2 VAR_054221 p.Lys791Glu Polymorphism rs34984302 - ZNF541 Q9H0D2 VAR_054222 p.Thr795Ser Polymorphism rs3826835 - ZNF543 Q08ER8 VAR_032171 p.Pro55Ala Polymorphism rs6510057 - ZNF543 Q08ER8 VAR_032172 p.Gln107Arg Polymorphism rs8100491 - ZNF543 Q08ER8 VAR_032173 p.Leu246His Polymorphism rs1968090 - ZNF543 Q08ER8 VAR_032174 p.Glu287Val Polymorphism rs35238720 - ZNF543 Q08ER8 VAR_032175 p.Val439Asp Polymorphism rs10411486 - ZNF543 Q08ER8 VAR_032176 p.Met573Val Polymorphism rs10410649 - ZNF544 Q6NX49 VAR_052859 p.His203Asp Polymorphism rs6510130 - ZNF544 Q6NX49 VAR_052860 p.Gln700Arg Polymorphism rs260462 - ZNF546 Q86UE3 VAR_035587 p.Leu15Val Unclassified - A breast cancer sample ZNF546 Q86UE3 VAR_055271 p.Gln201Arg Polymorphism rs17854378 - ZNF546 Q86UE3 VAR_055272 p.Arg243Thr Polymorphism rs2111543 - ZNF546 Q86UE3 VAR_055273 p.Ala253Val Polymorphism rs2111544 - ZNF546 Q86UE3 VAR_055274 p.Val298Glu Polymorphism rs17710336 - ZNF546 Q86UE3 VAR_055275 p.Glu427Gly Polymorphism rs12460371 - ZNF546 Q86UE3 VAR_055276 p.Leu452Phe Polymorphism rs7255186 - ZNF546 Q86UE3 VAR_055277 p.Leu652Phe Polymorphism rs12373540 - ZNF548 Q8NEK5 VAR_026845 p.Ala58Ser Polymorphism rs17856896 - ZNF548 Q8NEK5 VAR_026846 p.Ala73Thr Polymorphism rs4801478 - ZNF549 Q6P9A3 VAR_059921 p.Ile8Asn Polymorphism rs12461014 - ZNF550 Q7Z398 VAR_026294 p.Ile359Thr Polymorphism rs1548476 - ZNF551 Q7Z340 VAR_028077 p.Asn218Ser Polymorphism rs10413864 - ZNF551 Q7Z340 VAR_028078 p.Arg550Trp Polymorphism rs12611105 - ZNF552 Q9H707 VAR_032177 p.Trp242Cys Polymorphism rs2288538 - ZNF554 Q86TJ5 VAR_052861 p.Glu190Gly Polymorphism rs867168 - ZNF554 Q86TJ5 VAR_052862 p.Val211Ile Polymorphism rs867169 - ZNF555 Q8NEP9 VAR_026295 p.Lys515Thr Polymorphism rs17856648 - ZNF555 Q8NEP9 VAR_054223 p.Asn107Asp Polymorphism rs17856649 - ZNF555 Q8NEP9 VAR_054224 p.Pro137Leu Polymorphism rs36012545 - ZNF555 Q8NEP9 VAR_054225 p.His194Asn Polymorphism rs17851955 - ZNF556 Q9HAH1 VAR_030355 p.Arg137Cys Polymorphism rs10421121 - ZNF556 Q9HAH1 VAR_052863 p.Arg146Leu Polymorphism rs35499960 - ZNF556 Q9HAH1 VAR_052864 p.Ala353Thr Polymorphism rs35296337 - ZNF556 Q9HAH1 VAR_052865 p.Glu428Lys Polymorphism rs35494032 - ZNF559 Q9BR84 VAR_033576 p.Thr251Asn Polymorphism rs16979670 - ZNF560 Q96MR9 VAR_035588 p.Gly186Glu Unclassified - A colorectal cancer sample ZNF560 Q96MR9 VAR_052866 p.Tyr630Cys Polymorphism rs10416098 - ZNF562 Q6V9R5 VAR_023936 p.Phe178Leu Polymorphism rs1059194 - ZNF562 Q6V9R5 VAR_023937 p.Lys205Glu Polymorphism rs1059199 - ZNF562 Q6V9R5 VAR_059922 p.Glu260Lys Polymorphism rs1059199 - ZNF565 Q8N9K5 VAR_023938 p.Ile188Thr Polymorphism rs4805162 - ZNF568 Q3ZCX4 VAR_052867 p.Met437Thr Polymorphism rs547483 - ZNF568 Q3ZCX4 VAR_052868 p.Gln642Arg Polymorphism rs1644634 - ZNF569 Q5MCW4 VAR_035589 p.Gln29Glu Unclassified - A breast cancer sample ZNF569 Q5MCW4 VAR_035590 p.Glu87Gly Unclassified - A breast cancer sample ZNF571 Q7Z3V5 VAR_023953 p.Gln189His Polymorphism rs8111790 - ZNF571 Q7Z3V5 VAR_023954 p.Glu252Asp Polymorphism rs28512414 - ZNF571 Q7Z3V5 VAR_023955 p.Leu573His Polymorphism rs4802029 - ZNF571 Q7Z3V5 VAR_031093 p.Lys593Glu Polymorphism rs16973890 - ZNF571 Q7Z3V5 VAR_052869 p.Lys170Met Polymorphism rs16973893 - ZNF572 Q7Z3I7 VAR_027664 p.Lys317Thr Polymorphism rs10104558 - ZNF572 Q7Z3I7 VAR_027665 p.Gly380Glu Polymorphism rs10105106 - ZNF572 Q7Z3I7 VAR_027666 p.Ser448Cys Polymorphism rs10107774 - ZNF572 Q7Z3I7 VAR_027667 p.Val500Ile Polymorphism rs7825375 - ZNF572 Q7Z3I7 VAR_035591 p.Cys512Phe Unclassified - A colorectal cancer sample ZNF573 Q86YE8 VAR_030356 p.Gly166Ala Polymorphism rs3752365 - ZNF573 Q86YE8 VAR_057426 p.Gly204Ala Polymorphism rs3752365 - ZNF574 Q6ZN55 VAR_030351 p.Arg332Gln Polymorphism rs3745226 - ZNF574 Q6ZN55 VAR_030352 p.Arg785Gln Polymorphism rs3745228 - ZNF574 Q6ZN55 VAR_052870 p.Thr711Ser Polymorphism rs35898322 - ZNF576 Q9H609 VAR_023956 p.Pro81Leu Polymorphism rs17849705 - ZNF577 Q9BSK1 VAR_033577 p.Arg357Ser Polymorphism rs9807853 - ZNF577 Q9BSK1 VAR_055139 p.Ala84Val Polymorphism rs17856123 - ZNF577 Q9BSK1 VAR_055140 p.Arg123Cys Polymorphism rs17849895 - ZNF577 Q9BSK1 VAR_055141 p.Arg234Lys Polymorphism rs9807847 - ZNF577 Q9BSK1 VAR_055142 p.Lys246Glu Polymorphism rs2288868 - ZNF577 Q9BSK1 VAR_055143 p.Arg346Cys Polymorphism rs9807842 - ZNF577 Q9BSK1 VAR_055144 p.Glu373Lys Polymorphism rs10407547 - ZNF577 Q9BSK1 VAR_055145 p.Thr375Ile Polymorphism rs10407911 - ZNF579 Q8NAF0 VAR_061956 p.Glu353Asp Polymorphism rs10403008 - ZNF57 Q68EA5 VAR_052760 p.Thr223Asn Polymorphism rs2288958 - ZNF57 Q68EA5 VAR_052761 p.Arg230Trp Polymorphism rs2288957 - ZNF57 Q68EA5 VAR_061931 p.Thr357Met Polymorphism rs55682587 - ZNF582 Q96NG8 VAR_033578 p.Arg69Thr Polymorphism rs11883260 - ZNF583 Q96ND8 VAR_027978 p.Phe324Ile Polymorphism rs12976917 - ZNF584 Q8IVC4 VAR_033579 p.Pro142Ser Polymorphism rs11668789 - ZNF584 Q8IVC4 VAR_033580 p.Thr301Ala Polymorphism rs7257872 - ZNF585B Q52M93 VAR_059923 p.Val467Ile Polymorphism rs1657509 - ZNF589 Q86UQ0 VAR_035290 p.Thr216Arg Polymorphism rs11718329 - ZNF589 Q86UQ0 VAR_052871 p.Thr12Ala Polymorphism rs9847953 - ZNF592 Q92610 VAR_047033 p.Ser926Asn Polymorphism rs8182086 - ZNF592 Q92610 VAR_064583 p.Gly1046Arg Disease - Spinocerebellar ataxia autosomal recessive type 5 (SCAR5) [MIM:606937] ZNF593 O00488 VAR_059924 p.Arg6Gln Polymorphism rs2232649 - ZNF594 Q96JF6 VAR_035333 p.Ile171Thr Polymorphism rs9908414 - ZNF594 Q96JF6 VAR_035334 p.Val199Gly Polymorphism rs3853648 - ZNF594 Q96JF6 VAR_061957 p.Gln166His Polymorphism rs59197486 - ZNF595 Q8IYB9 VAR_061958 p.Ala628Gly Polymorphism rs2006764 - ZNF596 Q8TC21 VAR_027014 p.Thr136Lys Polymorphism rs2074718 - ZNF596 Q8TC21 VAR_027015 p.Val476Gly Polymorphism rs2072174 - ZNF597 Q96LX8 VAR_033581 p.Thr30Ser Polymorphism rs2270493 - ZNF598 Q86UK7 VAR_034470 p.Ser453Tyr Polymorphism rs11556528 - ZNF598 Q86UK7 VAR_034471 p.Cys725Ser Polymorphism rs2286468 - ZNF598 Q86UK7 VAR_052147 p.Thr637Met Polymorphism rs2286469 - ZNF598 Q86UK7 VAR_059818 p.Ala608Thr Polymorphism rs11248905 - ZNF599 Q96NL3 VAR_065087 p.Leu178Phe Unclassified - - ZNF600 Q6ZNG1 VAR_057427 p.Met2Val Polymorphism rs7252818 - ZNF600 Q6ZNG1 VAR_059925 p.Thr13Arg Polymorphism rs7252128 - ZNF600 Q6ZNG1 VAR_059926 p.Cys209Arg Polymorphism rs1820128 - ZNF606 Q8WXB4 VAR_052872 p.Ser141Gly Polymorphism rs11673029 - ZNF607 Q96SK3 VAR_057974 p.Ser2Ala Polymorphism rs2909097 - ZNF607 Q96SK3 VAR_057975 p.Arg70His Polymorphism rs2385006 - ZNF607 Q96SK3 VAR_057976 p.Phe123Leu Polymorphism rs35735839 - ZNF607 Q96SK3 VAR_057977 p.Ser375Thr Polymorphism rs960689 - ZNF607 Q96SK3 VAR_057978 p.Ala653Pro Polymorphism rs17856468 - ZNF607 Q96SK3 VAR_058306 p.Arg433His Polymorphism rs2385006 - ZNF607 Q96SK3 VAR_058307 p.Lys531Arg Polymorphism rs958305 - ZNF608 Q9ULD9 VAR_031148 p.Thr721Asn Polymorphism rs6862252 - ZNF610 Q8N9Z0 VAR_033582 p.Arg216Pro Polymorphism rs321937 - ZNF610 Q8N9Z0 VAR_052873 p.Val104Met Polymorphism rs3815905 - ZNF610 Q8N9Z0 VAR_052874 p.Ala131Ser Polymorphism rs2241586 - ZNF610 Q8N9Z0 VAR_052875 p.Arg298Ile Polymorphism rs7343101 - ZNF611 Q8N823 VAR_052876 p.Pro252Leu Polymorphism rs4085566 - ZNF611 Q8N823 VAR_052877 p.Glu340Gly Polymorphism rs4087790 - ZNF611 Q8N823 VAR_059927 p.Pro252Thr Polymorphism rs4085565 - ZNF611 Q8N823 VAR_060429 p.Asn234Ile Polymorphism rs3884051 - ZNF611 Q8N823 VAR_060722 p.Pro252Ile Polymorphism rs34846371 - ZNF613 Q6PF04 VAR_028096 p.Asp84Asn Polymorphism rs17854933 - ZNF613 Q6PF04 VAR_028097 p.Lys93Glu Polymorphism rs8106409 - ZNF613 Q6PF04 VAR_028098 p.Ile135Arg Polymorphism rs16983243 - ZNF613 Q6PF04 VAR_057428 p.Ser163Phe Polymorphism rs33998555 - ZNF613 Q6PF04 VAR_057429 p.Asp611Val Polymorphism rs16983253 - ZNF614 Q8N883 VAR_052878 p.Thr68Ile Polymorphism rs9636139 - ZNF614 Q8N883 VAR_052879 p.His223Arg Polymorphism rs35098634 - ZNF614 Q8N883 VAR_052880 p.Val415Ile Polymorphism rs8104890 - ZNF614 Q8N883 VAR_061959 p.Gly160Glu Polymorphism rs45596739 - ZNF615 Q8N8J6 VAR_037285 p.Thr129Met Polymorphism rs10500311 - ZNF615 Q8N8J6 VAR_037286 p.Thr360Ile Polymorphism rs1978717 - ZNF615 Q8N8J6 VAR_037287 p.Arg727Lys Polymorphism rs16983353 - ZNF616 Q08AN1 VAR_031149 p.His451Arg Polymorphism rs3764537 - ZNF616 Q08AN1 VAR_061960 p.Pro50Ser Polymorphism rs35582075 - ZNF623 O75123 VAR_052881 p.Asn126Asp Polymorphism rs4874084 - ZNF624 Q9P2J8 VAR_035592 p.Cys558Ser Unclassified - A colorectal cancer sample ZNF624 Q9P2J8 VAR_058001 p.Lys135Asn Polymorphism rs8065506 - ZNF625 Q96I27 VAR_052882 p.Val41Met Polymorphism rs7258368 - ZNF626 Q68DY1 VAR_029836 p.Asn31Asp Polymorphism rs3206157 - ZNF626 Q68DY1 VAR_029837 p.Asn68His Polymorphism rs3209058 - ZNF626 Q68DY1 VAR_047338 p.Met65Thr Polymorphism rs8106117 - ZNF626 Q68DY1 VAR_047339 p.Gln89Glu Polymorphism rs8111015 - ZNF626 Q68DY1 VAR_047340 p.Ser90Asn Polymorphism rs8110802 - ZNF626 Q68DY1 VAR_047341 p.Cys464Tyr Polymorphism rs4809072 - ZNF626 Q68DY1 VAR_047342 p.Glu500Lys Polymorphism rs10408597 - ZNF629 Q9UEG4 VAR_052883 p.Pro707Ala Polymorphism rs8050758 - ZNF638 Q14966 VAR_023069 p.Ile110Val Polymorphism rs12612365 - ZNF638 Q14966 VAR_023070 p.Asn980Ser Polymorphism rs3732235 - ZNF638 Q14966 VAR_023071 p.Val1726Met Polymorphism rs1804020 - ZNF638 Q14966 VAR_023072 p.Ala1912Val Polymorphism rs11542286 - ZNF638 Q14966 VAR_052238 p.Ser1462Asn Polymorphism rs10427371 - ZNF641 Q96N77 VAR_032009 p.Ser231Cys Polymorphism rs17851618 - ZNF641 Q96N77 VAR_032010 p.Gln363Pro Polymorphism rs2732481 - ZNF644 Q9H582 VAR_035593 p.Glu53Gln Unclassified - A breast cancer sample ZNF644 Q9H582 VAR_052885 p.Met556Val Polymorphism rs17131242 - ZNF644 Q9H582 VAR_052886 p.Ala794Val Polymorphism rs10922938 - ZNF645 Q8N7E2 VAR_030340 p.Asp166Glu Polymorphism rs5951426 - ZNF645 Q8N7E2 VAR_030341 p.Ser287Phe Polymorphism rs12860105 - ZNF646 O15015 VAR_035594 p.Asn1337Ile Unclassified - A breast cancer sample ZNF646 O15015 VAR_057430 p.Ala98Val Polymorphism rs28407985 - ZNF646 O15015 VAR_057431 p.Glu327Gly Polymorphism rs749670 - ZNF646 O15015 VAR_057432 p.Ile774Met Polymorphism rs17641067 - ZNF646 O15015 VAR_057433 p.Gly921Ala Polymorphism rs35713203 - ZNF646 O15015 VAR_057434 p.Arg1249Trp Polymorphism rs35376811 - ZNF646 O15015 VAR_057435 p.Arg1318Gln Polymorphism rs3751856 - ZNF646 O15015 VAR_057436 p.Gly1477Asp Polymorphism rs7196726 - ZNF646 O15015 VAR_057437 p.Thr1788Met Polymorphism rs34259949 - ZNF648 Q5T619 VAR_033585 p.Asn111Lys Polymorphism rs12568050 - ZNF648 Q5T619 VAR_052887 p.Glu42Lys Polymorphism rs12564283 - ZNF649 Q9BS31 VAR_027668 p.Gly352Asp Polymorphism rs6509593 - ZNF649 Q9BS31 VAR_027669 p.Ala469Thr Polymorphism rs1433083 - ZNF653 Q96CK0 VAR_028076 p.Lys54Arg Polymorphism rs17851437 - ZNF653 Q96CK0 VAR_057438 p.Ala329Thr Polymorphism rs35556595 - ZNF655 Q8N720 VAR_028165 p.Glu52Asp Polymorphism rs17853754 - ZNF658 Q5TYW1 VAR_052888 p.Ser68Tyr Polymorphism rs2065444 - ZNF662 Q6ZS27 VAR_061961 p.Asn176Ser Polymorphism rs60980399 - ZNF665 Q9H7R5 VAR_039895 p.Val19Ala Polymorphism rs12460170 - ZNF665 Q9H7R5 VAR_039896 p.His92Arg Polymorphism rs4801959 - ZNF665 Q9H7R5 VAR_039897 p.Val582Ile Polymorphism rs4801958 - ZNF667 Q5HYK9 VAR_027716 p.Lys260Arg Polymorphism rs3760849 - ZNF667 Q5HYK9 VAR_027717 p.Thr540Ala Polymorphism rs12610019 - ZNF667 Q5HYK9 VAR_047330 p.Pro134Leu Polymorphism rs35914474 - ZNF668 Q96K58 VAR_027689 p.Val25Leu Polymorphism rs2032917 - ZNF668 Q96K58 VAR_027690 p.Gly304Glu Polymorphism rs17851949 - ZNF668 Q96K58 VAR_027691 p.Ala447Val Polymorphism rs8046978 - ZNF668 Q96K58 VAR_035595 p.Ala66Thr Unclassified - A breast cancer sample ZNF668 Q96K58 VAR_035596 p.Gly286Ser Unclassified - A breast cancer sample ZNF668 Q96K58 VAR_035597 p.Thr331Arg Unclassified - A breast cancer sample ZNF668 Q96K58 VAR_035598 p.Arg556Gln Unclassified - A breast cancer sample ZNF669 Q96BR6 VAR_057439 p.Glu76Asp Polymorphism rs4925692 - ZNF669 Q96BR6 VAR_059928 p.Gly460Ser Polymorphism rs7533935 - ZNF671 Q8TAW3 VAR_026151 p.Ala149Val Polymorphism rs3746207 - ZNF671 Q8TAW3 VAR_055240 p.Pro237Ser Polymorphism rs34419645 - ZNF674 Q2M3X9 VAR_026152 p.Thr343Met Polymorphism - - ZNF674 Q2M3X9 VAR_026153 p.Pro412Leu Unclassified - - ZNF674 Q2M3X9 VAR_046997 p.Leu182Phe Polymorphism rs1737367 - ZNF675 Q8TD23 VAR_057440 p.Val197Ala Polymorphism rs11671053 - ZNF675 Q8TD23 VAR_060430 p.Leu124Val Polymorphism rs4380159 - ZNF675 Q8TD23 VAR_060431 p.Ala410Thr Polymorphism rs73029758 - ZNF676 Q8N7Q3 VAR_047437 p.Gly27Glu Polymorphism rs8104929 - ZNF676 Q8N7Q3 VAR_047438 p.Glu96Lys Polymorphism rs12986319 - ZNF676 Q8N7Q3 VAR_047439 p.Ser292Trp Polymorphism rs11671538 - ZNF677 Q86XU0 VAR_052889 p.Asp56Asn Polymorphism rs11881131 - ZNF677 Q86XU0 VAR_052890 p.Gly254Glu Polymorphism rs10425706 - ZNF678 Q5SXM1 VAR_026154 p.Lys144Glu Polymorphism rs17854209 - ZNF678 Q5SXM1 VAR_057441 p.Thr197Ile Polymorphism rs12118505 - ZNF678 Q5SXM1 VAR_061962 p.Pro152Thr Polymorphism rs61283390 - ZNF679 Q8IYX0 VAR_033586 p.Glu69Gly Polymorphism rs12154540 - ZNF679 Q8IYX0 VAR_033587 p.His120Arg Polymorphism rs17139320 - ZNF679 Q8IYX0 VAR_033588 p.Tyr212His Polymorphism rs1830035 - ZNF679 Q8IYX0 VAR_033589 p.Cys223Ser Polymorphism rs1830036 - ZNF680 Q8NEM1 VAR_027892 p.Ser132Phe Polymorphism rs11768951 - ZNF680 Q8NEM1 VAR_027893 p.Asp330Gly Polymorphism rs17856885 - ZNF680 Q8NEM1 VAR_027894 p.Asn525Asp Polymorphism rs17852813 - ZNF681 Q96N22 VAR_035167 p.Asp84His Polymorphism rs7248674 - ZNF681 Q96N22 VAR_035168 p.Leu295Ser Polymorphism rs1818989 - ZNF681 Q96N22 VAR_063679 p.Arg367Lys Polymorphism rs1818990 - ZNF681 Q96N22 VAR_063680 p.His548Gln Polymorphism rs1852433 - ZNF682 O95780 VAR_052891 p.Val65Met Polymorphism rs7255165 - ZNF682 O95780 VAR_052892 p.Thr209Ile Polymorphism rs2075090 - ZNF682 O95780 VAR_052893 p.Val450Ile Polymorphism rs17679334 - ZNF683 Q8IZ20 VAR_026155 p.His204Asn Polymorphism rs17852672 - ZNF683 Q8IZ20 VAR_057442 p.Gly22Val Polymorphism rs35040247 - ZNF683 Q8IZ20 VAR_057443 p.Asp48Gly Polymorphism rs10794532 - ZNF683 Q8IZ20 VAR_057444 p.His53Arg Polymorphism rs10794531 - ZNF683 Q8IZ20 VAR_057445 p.Arg288Leu Polymorphism rs11247933 - ZNF687 Q8N1G0 VAR_052894 p.Gly259Glu Polymorphism rs3748545 - ZNF687 Q8N1G0 VAR_052895 p.Arg344Thr Polymorphism rs12045766 - ZNF688 P0C7X2 VAR_052896 p.Ser131Ile Polymorphism rs33997546 - ZNF692 Q9BU19 VAR_033590 p.Pro230Arg Polymorphism rs13313088 - ZNF695 Q8IW36 VAR_057446 p.Arg84Lys Polymorphism rs2642973 - ZNF695 Q8IW36 VAR_057447 p.Val87Ala Polymorphism rs2642992 - ZNF695 Q8IW36 VAR_061963 p.Met110Ile Polymorphism rs55762230 - ZNF700 Q9H0M5 VAR_033591 p.Leu321Val Polymorphism rs17001730 - ZNF700 Q9H0M5 VAR_052897 p.Glu269Gly Polymorphism rs12327617 - ZNF701 Q9NV72 VAR_033592 p.Leu4Pro Polymorphism rs162832 - ZNF701 Q9NV72 VAR_033593 p.Thr116Ile Polymorphism rs366793 - ZNF701 Q9NV72 VAR_033594 p.Arg455Cys Polymorphism rs444172 - ZNF701 Q9NV72 VAR_052898 p.Thr271Lys Polymorphism rs373554 - ZNF701 Q9NV72 VAR_060432 p.Leu119Val Polymorphism rs12462687 - ZNF701 Q9NV72 VAR_060433 p.Arg429His Polymorphism rs67702454 - ZNF701 Q9NV72 VAR_061964 p.Asp240Glu Polymorphism rs427127 - ZNF704 Q6ZNC4 VAR_032506 p.Ala35Ser Polymorphism rs3907424 - ZNF705A Q6ZN79 VAR_033595 p.Lys142Gln Polymorphism rs10743253 - ZNF705A Q6ZN79 VAR_059929 p.Thr126Ala Polymorphism rs10743251 - ZNF705A Q6ZN79 VAR_059930 p.Arg134Cys Polymorphism rs10743252 - ZNF705A Q6ZN79 VAR_059931 p.Arg186His Polymorphism rs11043758 - ZNF707 Q96C28 VAR_033596 p.Pro96His Polymorphism rs6987308 - ZNF708 P17019 VAR_054795 p.Ala71Val Polymorphism rs547516 - ZNF708 P17019 VAR_054796 p.Lys113Glu Polymorphism rs1781873 - ZNF708 P17019 VAR_054797 p.Lys122Thr Polymorphism rs1781872 - ZNF708 P17019 VAR_054798 p.Arg130Gln Polymorphism rs504280 - ZNF711 Q9Y462 VAR_062990 p.Gly139Glu Unclassified - - ZNF711 Q9Y462 VAR_062991 p.Thr221Ala Polymorphism - - ZNF711 Q9Y462 VAR_062992 p.His274Arg Unclassified - - ZNF711 Q9Y462 VAR_062993 p.Met524Thr Polymorphism - - ZNF711 Q9Y462 VAR_062994 p.Asn601Ser Unclassified - - ZNF711 Q9Y462 VAR_062995 p.Glu622Asp Unclassified - - ZNF714 Q96N38 VAR_042936 p.Lys332Arg Polymorphism rs2884554 - ZNF714 Q96N38 VAR_042937 p.Ile474Val Polymorphism rs10427116 - ZNF714 Q96N38 VAR_057448 p.Ile473Val Polymorphism rs10427116 - ZNF717 Q9BY31 VAR_059932 p.Thr432Ile Polymorphism rs6686263 - ZNF718 Q3SXZ3 VAR_059933 p.Lys140Asn Polymorphism rs9684215 - ZNF718 Q3SXZ3 VAR_059934 p.Lys140Arg Polymorphism rs9684214 - ZNF718 Q3SXZ3 VAR_059935 p.Ser297Tyr Polymorphism rs7677201 - ZNF718 Q3SXZ3 VAR_059936 p.Arg413His Polymorphism rs7440274 - ZNF71 Q9NQZ8 VAR_024196 p.Val105Ile Polymorphism rs2072501 - ZNF71 Q9NQZ8 VAR_052762 p.Arg27Gly Polymorphism rs10405299 - ZNF71 Q9NQZ8 VAR_052763 p.Pro121Leu Polymorphism rs35392779 - ZNF730 Q6ZMV8 VAR_057449 p.Gly365Glu Polymorphism rs7247102 - ZNF749 O43361 VAR_030278 p.Gln243Arg Polymorphism rs12986235 - ZNF749 O43361 VAR_030279 p.Ala405Thr Polymorphism rs2240038 - ZNF749 O43361 VAR_030280 p.Ile771Arg Polymorphism rs7246856 - ZNF74 Q16587 VAR_012993 p.Glu117Lys Polymorphism rs3747076 - ZNF750 Q32MQ0 VAR_027062 p.Met235Val Polymorphism rs8074277 - ZNF750 Q32MQ0 VAR_051502 p.Pro288Leu Polymorphism rs35653278 - ZNF750 Q32MQ0 VAR_051503 p.Gln392Arg Polymorphism rs34687659 - ZNF75A Q96N20 VAR_033545 p.Val84Ala Polymorphism rs17611866 - ZNF75A Q96N20 VAR_035570 p.Gln228Glu Unclassified - A breast cancer sample ZNF761 Q86XN6 VAR_035335 p.Ser122Ile Polymorphism rs2708743 - ZNF761 Q86XN6 VAR_035336 p.Ile168Val Polymorphism rs1984432 - ZNF761 Q86XN6 VAR_035337 p.Ser528Gly Polymorphism rs2708742 - ZNF761 Q86XN6 VAR_035338 p.Gln603Glu Polymorphism rs2617726 - ZNF763 Q0D2J5 VAR_042692 p.Tyr327His Polymorphism rs7254529 - ZNF763 Q0D2J5 VAR_057450 p.Tyr324His Polymorphism rs7254529 - ZNF764 Q96H86 VAR_047845 p.Ala332Val Polymorphism rs17850402 - ZNF765 Q7L2R6 VAR_045598 p.Ser389Gly Polymorphism rs10425136 - ZNF766 Q5HY98 VAR_052899 p.Cys95Tyr Polymorphism rs12462608 - ZNF767 Q75MW2 VAR_057034 p.His31Arg Polymorphism rs1723718 - ZNF767 Q75MW2 VAR_057035 p.Gln38Arg Polymorphism rs1723719 - ZNF767 Q75MW2 VAR_057036 p.Ala131Thr Polymorphism rs1808231 - ZNF767 Q75MW2 VAR_057037 p.Thr134Ala Polymorphism rs354055 - ZNF768 Q9H5H4 VAR_035024 p.Glu181Asp Polymorphism rs10871453 - ZNF768 Q9H5H4 VAR_052900 p.Ala488Ser Polymorphism rs3751848 - ZNF76 P36508 VAR_033546 p.Thr48Met Polymorphism rs2228265 - ZNF76 P36508 VAR_033547 p.Arg272Cys Polymorphism rs33959228 - ZNF76 P36508 VAR_033548 p.Arg403Gln Polymorphism rs35582935 - ZNF771 Q7L3S4 VAR_031150 p.Asp207Asn Polymorphism rs17852362 - ZNF772 Q68DY9 VAR_029604 p.Cys182Trp Polymorphism rs2074060 - ZNF772 Q68DY9 VAR_029605 p.Met218Leu Polymorphism rs2074059 - ZNF774 Q6NX45 VAR_029596 p.Pro65Leu Polymorphism rs16944267 - ZNF774 Q6NX45 VAR_029597 p.Asn83Ser Polymorphism rs2589957 - ZNF774 Q6NX45 VAR_029598 p.Val147Ile Polymorphism rs11854320 - ZNF775 Q96BV0 VAR_059937 p.Thr428Ala Polymorphism rs13225910 - ZNF777 Q9ULD5 VAR_057451 p.Arg70Trp Polymorphism rs3735318 - ZNF777 Q9ULD5 VAR_057452 p.Val115Ala Polymorphism rs3735319 - ZNF777 Q9ULD5 VAR_061965 p.Ala512Thr Polymorphism rs17852167 - ZNF778 Q96MU6 VAR_061966 p.Asn683Asp Polymorphism rs55974122 - ZNF77 Q15935 VAR_033549 p.Leu20Trp Polymorphism rs34603238 - ZNF77 Q15935 VAR_033550 p.Pro179Ser Polymorphism rs34705382 - ZNF77 Q15935 VAR_033551 p.Gly460Arg Polymorphism rs35411355 - ZNF77 Q15935 VAR_052764 p.Cys3Ser Polymorphism rs12610412 - ZNF77 Q15935 VAR_059895 p.Ile5Val Polymorphism rs12609268 - ZNF782 Q6ZMW2 VAR_029578 p.Arg130Pro Polymorphism rs7870376 - ZNF782 Q6ZMW2 VAR_029579 p.Arg165His Polymorphism rs4645656 - ZNF782 Q6ZMW2 VAR_052901 p.Asn246Ser Polymorphism rs34763627 - ZNF782 Q6ZMW2 VAR_052902 p.Thr289Ala Polymorphism rs35403084 - ZNF787 Q6DD87 VAR_032336 p.Gly379Ala Polymorphism rs4077285 - ZNF789 Q5FWF6 VAR_052903 p.Thr77Ala Polymorphism rs6962772 - ZNF790 Q6PG37 VAR_057453 p.Thr486Ser Polymorphism rs4369791 - ZNF790 Q6PG37 VAR_060434 p.Gln301Arg Polymorphism rs3745775 - ZNF792 Q3KQV3 VAR_033106 p.Arg177Gln Polymorphism rs2651079 - ZNF792 Q3KQV3 VAR_047354 p.Arg525Trp Polymorphism rs3746244 - ZNF793 Q6ZN11 VAR_033107 p.Ile68Met Polymorphism rs12977460 - ZNF793 Q6ZN11 VAR_061967 p.Ile133Val Polymorphism rs45593644 - ZNF799 Q96GE5 VAR_029846 p.Gly44Val Polymorphism rs1134387 - ZNF799 Q96GE5 VAR_029847 p.Cys593Arg Polymorphism rs8112445 - ZNF79 Q15937 VAR_024841 p.Thr31Ile Polymorphism rs13292096 - ZNF79 Q15937 VAR_024842 p.Arg51Gly Polymorphism rs4504745 - ZNF79 Q15937 VAR_059896 p.Ser401Asn Polymorphism rs3210752 - ZNF7 P17097 VAR_024191 p.Gly188Arg Polymorphism rs1735169 - ZNF7 P17097 VAR_052744 p.Ser347Leu Polymorphism rs2228180 - ZNF7 P17097 VAR_052745 p.Leu596Phe Polymorphism rs1735170 - ZNF800 Q2TB10 VAR_052904 p.Leu102Val Polymorphism rs17865569 - ZNF804A Q7Z570 VAR_025943 p.Gln261Leu Polymorphism rs12476147 - ZNF804A Q7Z570 VAR_025944 p.Glu542Lys Polymorphism rs4667001 - ZNF804A Q7Z570 VAR_025945 p.Thr707Lys Polymorphism rs1366842 - ZNF804A Q7Z570 VAR_025946 p.His747Arg Polymorphism rs12477430 - ZNF804A Q7Z570 VAR_025947 p.Leu1081Val Polymorphism rs3731834 - ZNF804A Q7Z570 VAR_035599 p.Asn324Ser Unclassified - A colorectal cancer sample ZNF804A Q7Z570 VAR_054133 p.Asp479Gly Polymorphism rs35676856 - ZNF804A Q7Z570 VAR_054134 p.Lys600Arg Polymorphism rs35925696 - ZNF804A Q7Z570 VAR_054135 p.Gly1152Arg Polymorphism rs12105159 - ZNF804B A4D1E1 VAR_054666 p.Cys248Tyr Polymorphism rs1916830 - ZNF804B A4D1E1 VAR_054667 p.Glu909Lys Polymorphism rs10487075 - ZNF804B A4D1E1 VAR_054668 p.Met1105Val Polymorphism rs6963781 - ZNF804B A4D1E1 VAR_054669 p.Val1195Ile Polymorphism rs801841 - ZNF804B A4D1E1 VAR_059938 p.Phe634Ile Polymorphism rs801840 - ZNF804B A4D1E1 VAR_061968 p.Asn914His Polymorphism rs59859857 - ZNF804B A4D1E1 VAR_061969 p.Thr915Ile Polymorphism rs56948780 - ZNF805 Q5CZA5 VAR_057454 p.Gly68Glu Polymorphism rs2014572 - ZNF806 P0C7X5 VAR_045637 p.Val8Ala Polymorphism rs2459647 - ZNF806 P0C7X5 VAR_045638 p.Ala28Ser Polymorphism rs7340197 - ZNF806 P0C7X5 VAR_045639 p.Phe44Leu Polymorphism rs7355766 - ZNF806 P0C7X5 VAR_045640 p.Lys60Thr Polymorphism rs4953961 - ZNF806 P0C7X5 VAR_045641 p.Gly163Glu Polymorphism rs7349198 - ZNF806 P0C7X5 VAR_045642 p.Arg189Cys Polymorphism rs7349364 - ZNF806 P0C7X5 VAR_045643 p.Val276Ile Polymorphism rs7349215 - ZNF806 P0C7X5 VAR_045644 p.Asp375Glu Polymorphism rs7340499 - ZNF806 P0C7X5 VAR_045645 p.Phe498Cys Polymorphism rs2598809 - ZNF806 P0C7X5 VAR_045646 p.Arg561His Polymorphism rs7340213 - ZNF806 P0C7X5 VAR_045647 p.Lys564Glu Polymorphism rs2598806 - ZNF806 P0C7X5 VAR_059939 p.Cys539Tyr Polymorphism rs2677622 - ZNF806 P0C7X5 VAR_061970 p.Met113Val Polymorphism rs7355689 - ZNF806 P0C7X5 VAR_061971 p.Ala223Val Polymorphism rs7349365 - ZNF806 P0C7X5 VAR_061972 p.Val248Ala Polymorphism rs7349446 - ZNF806 P0C7X5 VAR_061973 p.Gly283Arg Polymorphism rs7349216 - ZNF806 P0C7X5 VAR_061974 p.Gly367Val Polymorphism rs7340191 - ZNF806 P0C7X5 VAR_061975 p.Glu396Gly Polymorphism rs2598810 - ZNF806 P0C7X5 VAR_061976 p.Ala556Val Polymorphism rs2598807 - ZNF808 Q8N4W9 VAR_045823 p.Lys134Asn Polymorphism rs329964 - ZNF808 Q8N4W9 VAR_045824 p.Asp262Asn Polymorphism rs329965 - ZNF80 P51504 VAR_019972 p.Asp253Ala Polymorphism rs3732782 - ZNF80 P51504 VAR_046561 p.Arg201His Polymorphism rs6438191 - ZNF812 P0C7V5 VAR_057455 p.Lys63Gln Polymorphism rs16981648 - ZNF813 Q6ZN06 VAR_033167 p.Arg231Lys Polymorphism rs10421308 - ZNF813 Q6ZN06 VAR_033168 p.Tyr439Phe Polymorphism rs10422163 - ZNF813 Q6ZN06 VAR_052905 p.Ala62Thr Polymorphism rs2617667 - ZNF813 Q6ZN06 VAR_052906 p.Asp93Val Polymorphism rs12609217 - ZNF813 Q6ZN06 VAR_052907 p.Ile168Phe Polymorphism rs12460628 - ZNF813 Q6ZN06 VAR_052908 p.Tyr192Cys Polymorphism rs3859494 - ZNF814 B7Z6K7 VAR_063261 p.Met83Val Polymorphism rs52826274 - ZNF816 Q0VGE8 VAR_033165 p.Ile80Asn Polymorphism rs12459008 - ZNF816 Q0VGE8 VAR_033166 p.Ser162Leu Polymorphism rs11084210 - ZNF818P Q6ZRF7 VAR_033182 p.Glu14Lys Polymorphism rs10853858 - ZNF81 P51508 VAR_019939 p.Ala3Val Polymorphism - - ZNF81 P51508 VAR_019940 p.Asn157Ser Polymorphism rs41312157 - ZNF81 P51508 VAR_019941 p.Ser179Asn Disease rs28933691 Mental retardation X-linked type 45 (MRX45) [MIM:300498] ZNF81 P51508 VAR_019942 p.Ser185Leu Polymorphism - - ZNF81 P51508 VAR_019943 p.Ile499Val Polymorphism - - ZNF81 P51508 VAR_038806 p.Gly117Val Polymorphism rs17147793 - ZNF81 P51508 VAR_052765 p.Ala213Glu Polymorphism rs537825 - ZNF823 P16415 VAR_052909 p.Arg566His Polymorphism rs3745663 - ZNF826P Q6ZT77 VAR_059940 p.Cys148Tyr Polymorphism rs7247776 - ZNF830 Q96NB3 VAR_024059 p.His99Gln Polymorphism rs931196 - ZNF830 Q96NB3 VAR_024060 p.Ser154Thr Polymorphism rs3744355 - ZNF830 Q96NB3 VAR_030940 p.Ile16Val Polymorphism rs8073825 - ZNF830 Q96NB3 VAR_030941 p.Ser93Pro Polymorphism rs8078059 - ZNF830 Q96NB3 VAR_030942 p.Phe135Leu Polymorphism rs8078217 - ZNF831 Q5JPB2 VAR_026472 p.Gly845Arg Polymorphism rs181984 - ZNF831 Q5JPB2 VAR_026473 p.Ser1513Pro Polymorphism rs259956 - ZNF835 Q9Y2P0 VAR_061977 p.Glu29Lys Polymorphism rs12462469 - ZNF835 Q9Y2P0 VAR_061978 p.Glu88Ala Polymorphism rs12460400 - ZNF836 Q6ZNA1 VAR_039001 p.Met219Ile Polymorphism rs1366245 - ZNF836 Q6ZNA1 VAR_039002 p.Asn809Ser Polymorphism rs8113504 - ZNF837 Q96EG3 VAR_039373 p.Gln153Arg Polymorphism rs7256940 - ZNF837 Q96EG3 VAR_061979 p.Ala242Thr Polymorphism rs7255596 - ZNF839 A8K0R7 VAR_042468 p.Pro531Ser Polymorphism rs9464 - ZNF839 A8K0R7 VAR_042469 p.Val693Met Polymorphism rs28646161 - ZNF839 A8K0R7 VAR_042470 p.Phe731Leu Polymorphism rs1053019 - ZNF839 A8K0R7 VAR_057456 p.Ala314Thr Polymorphism rs1543540 - ZNF83 P51522 VAR_058206 p.Thr70Ile Polymorphism rs3786490 - ZNF83 P51522 VAR_058207 p.Ser96Asn Polymorphism rs1056185 - ZNF83 P51522 VAR_058208 p.Thr119Met Polymorphism rs329940 - ZNF83 P51522 VAR_058209 p.His392Arg Polymorphism rs11545619 - ZNF840 A6NDX5 VAR_048027 p.Tyr181Cys Polymorphism rs3752261 - ZNF844 Q08AG5 VAR_059941 p.Val113Met Polymorphism rs12611158 - ZNF844 Q08AG5 VAR_059942 p.Arg146His Polymorphism rs10422576 - ZNF844 Q08AG5 VAR_059943 p.Lys226Glu Polymorphism rs7259684 - ZNF844 Q08AG5 VAR_059944 p.Thr276Ala Polymorphism rs7259845 - ZNF844 Q08AG5 VAR_059945 p.Ala308Pro Polymorphism rs6511763 - ZNF844 Q08AG5 VAR_059946 p.Val329Ala Polymorphism rs8102258 - ZNF844 Q08AG5 VAR_059947 p.Met584Leu Polymorphism rs1438694 - ZNF844 Q08AG5 VAR_059948 p.Ile642Met Polymorphism rs10426017 - ZNF844 Q08AG5 VAR_061980 p.Val658Ile Polymorphism rs55703333 - ZNF846 Q147U1 VAR_052911 p.Cys450Tyr Polymorphism rs10414485 - ZNF846 Q147U1 VAR_052912 p.Tyr492Cys Polymorphism rs10420364 - ZNF853 P0CG23 VAR_063279 p.Gly8Arg Polymorphism rs2243563 - ZNF853 P0CG23 VAR_063280 p.Gln30Arg Polymorphism rs1806552 - ZNF853 P0CG23 VAR_063281 p.Gln212Glu Polymorphism rs11971880 - ZNF85 Q03923 VAR_033552 p.Lys60Thr Polymorphism rs7254311 - ZNF85 Q03923 VAR_033553 p.Gly184Arg Polymorphism rs11665978 - ZNF85 Q03923 VAR_033554 p.Phe270Ser Polymorphism rs11670246 - ZNF85 Q03923 VAR_047515 p.Thr266Ala Polymorphism rs1063156 - ZNF85 Q03923 VAR_061932 p.Gln84Arg Polymorphism rs56321708 - ZNF85 Q03923 VAR_061933 p.Arg115Ile Polymorphism rs56231962 - ZNF85 Q03923 VAR_061934 p.Thr177Arg Polymorphism rs56393308 - ZNF862 O60290 VAR_039248 p.Ile178Thr Polymorphism rs3735328 - ZNF91 Q05481 VAR_057393 p.Tyr112His Polymorphism rs296091 - ZNF91 Q05481 VAR_057394 p.Thr896Ala Polymorphism rs296093 - ZNF91 Q05481 VAR_059897 p.Phe455Ile Polymorphism rs440638 - ZNF91 Q05481 VAR_059898 p.Leu1164Pro Polymorphism rs428549 - ZNF91 Q05481 VAR_059899 p.Leu1164Val Polymorphism rs385750 - ZNF91 Q05481 VAR_060417 p.Thr336Ala Polymorphism rs449447 - ZNF91 Q05481 VAR_060418 p.Ala386Thr Polymorphism rs403356 - ZNF91 Q05481 VAR_060419 p.Glu521Lys Polymorphism rs12976753 - ZNF91 Q05481 VAR_060420 p.Arg1011Ile Polymorphism rs1821844 - ZNF91 Q05481 VAR_060421 p.Arg1033Gln Polymorphism rs1821846 - ZNF92 Q03936 VAR_024843 p.Gln492Arg Polymorphism rs17853615 - ZNF92 Q03936 VAR_052766 p.Ala122Val Polymorphism rs10265083 - ZNF92 Q03936 VAR_052767 p.Arg527His Polymorphism rs10239197 - ZNF93 P35789 VAR_052768 p.Asp93Tyr Polymorphism rs12151060 - ZNF99 A8MXY4 VAR_044501 p.Ala150Gly Polymorphism rs7255780 - ZNF99 A8MXY4 VAR_061935 p.Trp28Arg Polymorphism rs34726149 - ZNF99 A8MXY4 VAR_061936 p.Lys416Ile Polymorphism rs11667397 - ZNFX1 Q9P2E3 VAR_014078 p.Leu864Val Polymorphism rs2664578 - ZNFX1 Q9P2E3 VAR_014079 p.Thr910Ala Polymorphism rs2273148 - ZNFX1 Q9P2E3 VAR_014080 p.Gln924His Polymorphism rs238221 - ZNFX1 Q9P2E3 VAR_014081 p.Thr1351Ile Polymorphism rs238209 - ZNFX1 Q9P2E3 VAR_024487 p.Met1259Ile Polymorphism rs6512577 - ZNFX1 Q9P2E3 VAR_051504 p.Gly1297Ser Polymorphism rs36068952 - ZNHIT1 O43257 VAR_035719 p.Arg134Trp Unclassified - A colorectal cancer sample ZNHIT2 Q9UHR6 VAR_035720 p.Ala59Pro Unclassified - A breast cancer sample ZNHIT2 Q9UHR6 VAR_053757 p.Glu155Lys Polymorphism rs11556920 - ZNHIT2 Q9UHR6 VAR_053758 p.Ala176Val Polymorphism rs35983251 - ZNHIT6 Q9NWK9 VAR_031096 p.Gly9Arg Polymorphism rs17399721 - ZNHIT6 Q9NWK9 VAR_035721 p.Leu455His Unclassified - A colorectal cancer sample ZNRD1 Q9P1U0 VAR_052287 p.Gln14His Polymorphism rs17187658 - ZNRF4 Q8WWF5 VAR_030611 p.Pro37Ser Polymorphism rs2240743 - ZNRF4 Q8WWF5 VAR_030612 p.Arg78Gln Polymorphism rs2240744 - ZNRF4 Q8WWF5 VAR_030613 p.Val100Ile Polymorphism rs2240745 - ZNRF4 Q8WWF5 VAR_030614 p.Ala157Ser Polymorphism rs8103406 - ZNRF4 Q8WWF5 VAR_030615 p.Val159Ala Polymorphism rs8107825 - ZNRF4 Q8WWF5 VAR_030616 p.Arg163Cys Polymorphism rs8104246 - ZNRF4 Q8WWF5 VAR_030617 p.Arg163His Polymorphism rs17304380 - ZNRF4 Q8WWF5 VAR_030618 p.Asp192Asn Polymorphism rs16992985 - ZP1 P60852 VAR_052996 p.Thr158Ile Polymorphism rs489172 - ZP2 Q05996 VAR_024705 p.Gly36Val Polymorphism rs2075520 - ZP3 P21754 VAR_058011 p.Gly31Arg Polymorphism rs2286428 - ZP3 P21754 VAR_058012 p.Ser315Pro Polymorphism rs2906999 - ZP3 P21754 VAR_058013 p.Met340Val Polymorphism rs2906997 - ZP4 Q12836 VAR_052997 p.Ala114Val Polymorphism rs34370253 - ZP4 Q12836 VAR_052998 p.Pro295Ser Polymorphism rs34811980 - ZPBP2 Q6X784 VAR_053747 p.Pro68Ala Polymorphism rs35591738 - ZPBP2 Q6X784 VAR_053748 p.Ala118Thr Polymorphism rs35829084 - ZPBP2 Q6X784 VAR_053749 p.Ser173Ile Polymorphism rs11557467 - ZPBP2 Q6X784 VAR_053750 p.Gln335Glu Polymorphism rs35302660 - ZPLD1 Q8TCW7 VAR_035400 p.Ile12Phe Polymorphism rs6784362 - ZPLD1 Q8TCW7 VAR_035401 p.Asn29Ser Polymorphism rs6784389 - ZPLD1 Q8TCW7 VAR_035402 p.Thr197Ala Polymorphism rs12054046 - ZRANB2 O95218 VAR_030783 p.Arg207Gly Polymorphism rs11583800 - ZRANB3 Q5FWF4 VAR_030671 p.Glu541Lys Polymorphism rs935615 - ZRANB3 Q5FWF4 VAR_030672 p.Arg546Gln Polymorphism rs7608121 - ZRANB3 Q5FWF4 VAR_061237 p.Glu637Val Polymorphism rs59900519 - ZSCAN16 Q9H4T2 VAR_035604 p.Arg137Gln Unclassified - A colorectal cancer sample ZSCAN18 Q8TBC5 VAR_026871 p.Gly379Glu Polymorphism rs2258557 - ZSCAN20 P17040 VAR_054799 p.Asp248Asn Polymorphism rs34446695 - ZSCAN20 P17040 VAR_054800 p.Tyr432Asp Polymorphism rs4403594 - ZSCAN25 Q6NSZ9 VAR_036931 p.Pro325Ala Polymorphism rs10239632 - ZSCAN26 Q16670 VAR_035405 p.Arg220Ser Polymorphism rs17851075 - ZSCAN26 Q16670 VAR_059900 p.Tyr59Cys Polymorphism rs16893892 - ZSCAN26 Q16670 VAR_059901 p.Arg73Gln Polymorphism rs11965538 - ZSCAN26 Q16670 VAR_059902 p.Glu83Lys Polymorphism rs11965542 - ZSCAN29 Q8IWY8 VAR_057459 p.Gly199Ser Polymorphism rs12912744 - ZSCAN29 Q8IWY8 VAR_059949 p.Arg104Gly Polymorphism rs3809482 - ZSCAN2 Q7Z7L9 VAR_065095 p.Ser191Thr Polymorphism rs2044502 - ZSCAN30 Q86W11 VAR_059914 p.Gln238Pro Polymorphism rs2249769 - ZSCAN31 Q96LW9 VAR_019981 p.Thr50Ser Polymorphism rs853678 - ZSCAN31 Q96LW9 VAR_024209 p.Lys205Arg Polymorphism rs853684 - ZSCAN31 Q96LW9 VAR_052809 p.Ala128Pro Polymorphism rs6922302 - ZSCAN31 Q96LW9 VAR_052810 p.Arg222Gln Polymorphism rs34223404 - ZSCAN31 Q96LW9 VAR_059911 p.Gly365Glu Polymorphism rs2394051 - ZSCAN32 Q9NX65 VAR_024215 p.Tyr120His Polymorphism rs27230 - ZSCAN32 Q9NX65 VAR_052826 p.Ala54Val Polymorphism rs17136369 - ZSCAN4 Q8NAM6 VAR_052926 p.Glu387Lys Polymorphism rs11668570 - ZSCAN5A Q9BUG6 VAR_035603 p.Glu146Gln Unclassified - A colorectal cancer sample ZSCAN5A Q9BUG6 VAR_042964 p.Gly337Val Polymorphism rs34187696 - ZSCAN5B A6NJL1 VAR_042965 p.Pro187Ser Polymorphism rs527025 - ZSCAN5B A6NJL1 VAR_042966 p.Val208Ile Polymorphism rs4801296 - ZSCAN5B A6NJL1 VAR_042967 p.Ser236Thr Polymorphism rs10425951 - ZSCAN5B A6NJL1 VAR_042968 p.Ser304Thr Polymorphism rs892183 - ZSCAN5B A6NJL1 VAR_042969 p.Met412Leu Polymorphism rs16987048 - ZSCAN5C A6NGD5 VAR_042970 p.Gln181Arg Polymorphism rs4801690 - ZSCAN5C A6NGD5 VAR_042971 p.Glu197Asp Polymorphism rs12979551 - ZSCAN5C A6NGD5 VAR_052927 p.Gln24Arg Polymorphism rs10419548 - ZSCAN5C A6NGD5 VAR_052928 p.Gln259Lys Polymorphism rs1865102 - ZSWIM1 Q9BR11 VAR_020445 p.Arg101Gln Polymorphism rs3746500 - ZSWIM3 Q96MP5 VAR_053769 p.Val259Ala Polymorphism rs2903808 - ZSWIM3 Q96MP5 VAR_062161 p.Arg291Trp Polymorphism rs35928298 - ZSWIM5 Q9P217 VAR_053770 p.Val368Gly Polymorphism rs12733746 - ZUFSP Q96AP4 VAR_026889 p.Asn379Asp Polymorphism rs4946188 - ZW10 O43264 VAR_053537 p.Ile77Met Polymorphism rs2271796 - ZWILCH Q9H900 VAR_038055 p.Ser344Gly Polymorphism rs11071896 - ZWINT O95229 VAR_028783 p.Ala4Ser Polymorphism rs11005328 - ZWINT O95229 VAR_051505 p.Arg187Gly Polymorphism rs2241666 - ZXDA P98168 VAR_033002 p.Gly376Ser Polymorphism rs1057327 - ZXDB P98169 VAR_033003 p.Ala736Thr Polymorphism rs1057338 - ZXDB P98169 VAR_033004 p.Asn760Ser Polymorphism rs1057340 - ZXDB P98169 VAR_033005 p.Asp764Asn Polymorphism rs1057341 - ZXDB P98169 VAR_033006 p.Thr791Arg Polymorphism rs1057343 - ZXDC Q2QGD7 VAR_057464 p.Pro562Leu Polymorphism rs16837497 - ZYX Q15942 VAR_034081 p.His223Leu Polymorphism rs11978404 - ZZEF1 O43149 VAR_032551 p.Val30Ala Polymorphism rs1454121 - ZZEF1 O43149 VAR_032552 p.Ile1021Val Polymorphism rs16953687 - ZZEF1 O43149 VAR_032553 p.Ser1437Ala Polymorphism rs4790555 - ZZEF1 O43149 VAR_032554 p.Leu1972Pro Polymorphism rs781852 - ZZEF1 O43149 VAR_032555 p.Ile2014Val Polymorphism rs781831 - ZZEF1 O43149 VAR_032556 p.Pro2051Ser Polymorphism rs1006954 - ZZEF1 O43149 VAR_032557 p.Tyr2301His Polymorphism rs34357158 - ZZEF1 O43149 VAR_032558 p.Leu2303Pro Polymorphism rs35638819 - ZZEF1 O43149 VAR_032559 p.Glu2369Gln Polymorphism rs711177 - ZZEF1 O43149 VAR_032560 p.Ala2421Thr Polymorphism rs781861 - ZZZ3 Q8IYH5 VAR_035718 p.Pro456Ser Unclassified - A colorectal cancer sample