ClinVar Miner

List of variants in gene MET reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 672
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.1702-152C>T rs38860 0.96315
NM_000245.4(MET):c.3523-75T>C rs6947629 0.65357
NM_000245.4(MET):c.*1428G>A rs1621 0.64317
NM_000245.4(MET):c.*2240G>A rs6566 0.35098
NM_000245.4(MET):c.*1028A>G rs41738 0.35022
NM_000245.4(MET):c.4017G>A (p.Ala1339=) rs2023748 0.34971
NM_000245.4(MET):c.*1326A>G rs41739 0.34957
NM_000245.4(MET):c.4092G>A (p.Pro1364=) rs41737 0.34093
NM_000245.4(MET):c.3799-293G>A rs41735 0.33882
NM_000245.4(MET):c.3858C>T (p.Asp1286=) rs41736 0.33828
NM_000245.4(MET):c.2265-314G>A rs10215153 0.32195
NM_000245.4(MET):c.1200+244A>C rs17138937 0.24048
NM_000245.4(MET):c.1200+193_1200+194insT rs35212357 0.23883
NM_000245.4(MET):c.1944A>G (p.Gln648=) rs13223756 0.17015
NM_000245.4(MET):c.3633-197G>A rs2073560 0.13967
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07196
NM_000245.4(MET):c.2264+89C>T rs17138978 0.05826
NM_000245.4(MET):c.*684G>A rs12540703 0.05662
NM_000245.4(MET):c.1131C>T (p.Ile377=) rs28444388 0.05590
NM_000245.4(MET):c.1201-247T>C rs7804778 0.04313
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03282
NM_000245.4(MET):c.2888-54_2888-53dup rs140824245 0.03089
NM_000245.4(MET):c.1701+25A>G rs73469198 0.02898
NM_000245.4(MET):c.1392+276G>C rs10244916 0.02870
NM_000245.4(MET):c.3523-217T>A rs73471132 0.02763
NM_000245.4(MET):c.3633-38A>G rs115240747 0.02393
NM_000245.4(MET):c.3632+63C>T rs6966012 0.02208
NM_000245.4(MET):c.*216C>A rs149188493 0.02063
NM_000245.4(MET):c.3523-163G>A rs138238598 0.02023
NM_000245.4(MET):c.2887+70G>A rs6978257 0.01964
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01935
NM_000245.4(MET):c.3522+251T>C rs73716771 0.01904
NM_000245.4(MET):c.-14-13C>T rs36080330 0.00978
NM_000245.4(MET):c.2888-36G>A rs35624294 0.00923
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000245.4(MET):c.2888-85C>T rs35307741 0.00872
NM_000245.4(MET):c.2730+285G>A rs116921956 0.00794
NM_000245.4(MET):c.1085T>C (p.Met362Thr) rs77523018 0.00742
NM_000245.4(MET):c.390C>T (p.Leu130=) rs150588908 0.00696
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000245.4(MET):c.*1987C>T rs76322625 0.00499
NM_000245.4(MET):c.*2202G>A rs14456 0.00498
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00393
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_000245.4(MET):c.*1220G>A rs139535303 0.00315
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00299
NM_000245.4(MET):c.*231T>G rs59399612 0.00287
NM_000245.4(MET):c.*787G>A rs143472935 0.00277
NM_000245.4(MET):c.*1010G>T rs150534017 0.00272
NM_000245.4(MET):c.*87G>A rs41281081 0.00250
NM_000245.4(MET):c.3522T>C (p.His1174=) rs146651797 0.00243
NM_000245.4(MET):c.*385G>A rs181068390 0.00219
NM_000245.4(MET):c.*201C>T rs1129355 0.00187
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00179
NM_000245.4(MET):c.2662C>T (p.His888Tyr) rs115574135 0.00166
NM_000245.4(MET):c.*2100C>T rs190739281 0.00165
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565 0.00153
NM_000245.4(MET):c.*1871G>A rs139377965 0.00152
NM_000245.4(MET):c.*1224C>T rs149713628 0.00150
NM_000245.4(MET):c.2584-9T>C rs74994656 0.00119
NM_000245.4(MET):c.*602C>T rs147343288 0.00117
NM_000245.4(MET):c.*656G>A rs531456758 0.00095
NM_000245.4(MET):c.*944A>G rs565768785 0.00076
NM_000245.4(MET):c.3549C>T (p.Gly1183=) rs371165052 0.00070
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000245.4(MET):c.798G>A (p.Arg266=) rs185301166 0.00068
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111 0.00055
NM_000245.4(MET):c.3523-12C>G rs186524917 0.00053
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00050
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_000245.4(MET):c.2715C>T (p.Ser905=) rs45572835 0.00039
NM_000245.4(MET):c.3810C>T (p.Gly1270=) rs200865810 0.00039
NM_000245.4(MET):c.*397A>G rs559231345 0.00035
NM_000245.4(MET):c.1191C>T (p.Cys397=) rs35763409 0.00029
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00029
NM_000245.4(MET):c.4105T>C (p.Leu1369=) rs45575438 0.00029
NM_000245.4(MET):c.3028+11G>T rs369191825 0.00027
NM_000245.4(MET):c.1932C>T (p.His644=) rs45520237 0.00024
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000245.4(MET):c.3522+12G>T rs200624981 0.00021
NM_000245.4(MET):c.2568T>C (p.Asn856=) rs118057172 0.00020
NM_000245.4(MET):c.2133C>A (p.Thr711=) rs747803111 0.00017
NM_000245.4(MET):c.1201-14A>G rs762306750 0.00016
NM_000245.4(MET):c.1263C>T (p.Thr421=) rs45499391 0.00016
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433 0.00016
NM_000245.4(MET):c.1233G>A (p.Ala411=) rs374081963 0.00014
NM_000245.4(MET):c.1270T>C (p.Leu424=) rs372229471 0.00014
NM_000245.4(MET):c.1966-17T>C rs555288487 0.00013
NM_000245.4(MET):c.36C>T (p.Leu12=) rs188625702 0.00011
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000245.4(MET):c.789G>A (p.Thr263=) rs554190225 0.00009
NM_000245.4(MET):c.1989G>A (p.Ser663=) rs201180585 0.00007
NM_000245.4(MET):c.960G>A (p.Ala320=) rs191198682 0.00007
NM_000245.4(MET):c.22G>A (p.Ala8Thr) rs758564871 0.00006
NM_000245.4(MET):c.3168T>C (p.Ser1056=) rs376069508 0.00006
NM_000245.4(MET):c.3477C>T (p.Tyr1159=) rs372238373 0.00006
NM_000245.4(MET):c.4075G>A (p.Val1359Ile) rs752669237 0.00006
NM_000245.4(MET):c.4134G>A (p.Glu1378=) rs879254328 0.00006
NM_000245.4(MET):c.900C>T (p.Leu300=) rs540354779 0.00006
NM_000245.4(MET):c.12C>T (p.Pro4=) rs772251895 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.2674G>A (p.Val892Ile) rs761243391 0.00005
NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) rs45612435 0.00005
NM_000245.4(MET):c.1038C>T (p.Phe346=) rs376235685 0.00004
NM_000245.4(MET):c.1062C>T (p.Ala354=) rs755166920 0.00004
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.1278C>T (p.Arg426=) rs748508881 0.00004
NM_000245.4(MET):c.1320A>G (p.Thr440=) rs763726060 0.00004
NM_000245.4(MET):c.1359T>C (p.Ala453=) rs755985210 0.00004
NM_000245.4(MET):c.1374A>G (p.Ser458=) rs755165691 0.00004
NM_000245.4(MET):c.1659C>T (p.Ser553=) rs377284387 0.00004
NM_000245.4(MET):c.1881T>C (p.Gly627=) rs200050499 0.00004
NM_000245.4(MET):c.1992G>A (p.Pro664=) rs373842614 0.00004
NM_000245.4(MET):c.2319G>A (p.Pro773=) rs141733128 0.00004
NM_000245.4(MET):c.2913C>T (p.Tyr971=) rs371379572 0.00004
NM_000245.4(MET):c.3459G>A (p.Pro1153=) rs201245213 0.00004
NM_000245.4(MET):c.4086C>T (p.Val1362=) rs753757242 0.00004
NM_000245.4(MET):c.1235G>A (p.Arg412His) rs371463233 0.00003
NM_000245.4(MET):c.1291A>G (p.Met431Val) rs766929091 0.00003
NM_000245.4(MET):c.1626C>T (p.His542=) rs762898756 0.00003
NM_000245.4(MET):c.1723C>A (p.Leu575Ile) rs587778445 0.00003
NM_000245.4(MET):c.2055G>A (p.Gly685=) rs766401668 0.00003
NM_000245.4(MET):c.2271G>A (p.Gly757=) rs755816605 0.00003
NM_000245.4(MET):c.2658C>T (p.His886=) rs748950533 0.00003
NM_000245.4(MET):c.2755G>A (p.Val919Ile) rs759522148 0.00003
NM_000245.4(MET):c.2769A>C (p.Val923=) rs371015065 0.00003
NM_000245.4(MET):c.2971C>T (p.Pro991Ser) rs768678989 0.00003
NM_000245.4(MET):c.3819C>G (p.Leu1273=) rs367772588 0.00003
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910 0.00003
NM_000245.4(MET):c.405C>T (p.Ser135=) rs200494620 0.00003
NM_000245.4(MET):c.468G>A (p.Ser156=) rs576502224 0.00003
NM_000245.4(MET):c.639G>A (p.Ser213=) rs587780738 0.00003
NM_000245.4(MET):c.666G>A (p.Thr222=) rs1444020594 0.00003
NM_000245.4(MET):c.690G>A (p.Thr230=) rs200138253 0.00003
NM_000245.4(MET):c.900C>G (p.Leu300=) rs540354779 0.00003
NM_000245.4(MET):c.1398G>A (p.Val466=) rs779091695 0.00002
NM_000245.4(MET):c.13G>A (p.Ala5Thr) rs765444467 0.00002
NM_000245.4(MET):c.1476G>T (p.Val492=) rs528788133 0.00002
NM_000245.4(MET):c.1533G>A (p.Thr511=) rs866306366 0.00002
NM_000245.4(MET):c.1617C>T (p.Gly539=) rs776490266 0.00002
NM_000245.4(MET):c.1636G>A (p.Val546Met) rs774462373 0.00002
NM_000245.4(MET):c.1965+14T>C rs543293293 0.00002
NM_000245.4(MET):c.2216G>A (p.Arg739His) rs45553236 0.00002
NM_000245.4(MET):c.2373A>G (p.Gln791=) rs760294359 0.00002
NM_000245.4(MET):c.2517T>G (p.Pro839=) rs1584947055 0.00002
NM_000245.4(MET):c.2562T>C (p.Asn854=) rs1060504946 0.00002
NM_000245.4(MET):c.2673C>T (p.Ala891=) rs561131509 0.00002
NM_000245.4(MET):c.3054C>T (p.Asn1018=) rs369148519 0.00002
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys) rs45628136 0.00002
NM_000245.4(MET):c.3378C>T (p.Thr1126=) rs201111132 0.00002
NM_000245.4(MET):c.345C>T (p.Asn115=) rs774038166 0.00002
NM_000245.4(MET):c.3702C>T (p.Tyr1234=) rs201747580 0.00002
NM_000245.4(MET):c.3705T>C (p.Tyr1235=) rs754467674 0.00002
NM_000245.4(MET):c.3972C>T (p.Ala1324=) rs201519623 0.00002
NM_000245.4(MET):c.4074C>T (p.Asn1358=) rs772860611 0.00002
NM_000245.4(MET):c.4140C>T (p.Asp1380=) rs370368651 0.00002
NM_000245.4(MET):c.743A>T (p.Lys248Met) rs769181927 0.00002
NM_000245.4(MET):c.852A>G (p.Ile284Met) rs759227622 0.00002
NM_000245.4(MET):c.939G>A (p.Val313=) rs375716972 0.00002
NM_000245.4(MET):c.*1233G>A rs560568639 0.00001
NM_000245.4(MET):c.1044A>G (p.Gln348=) rs1266319879 0.00001
NM_000245.4(MET):c.1068A>G (p.Pro356=) rs934426317 0.00001
NM_000245.4(MET):c.1101C>A (p.Ile367=) rs747940150 0.00001
NM_000245.4(MET):c.1113C>T (p.Asn371=) rs772014416 0.00001
NM_000245.4(MET):c.1137C>T (p.Asn379=) rs1060504942 0.00001
NM_000245.4(MET):c.1170C>T (p.Tyr390=) rs45552236 0.00001
NM_000245.4(MET):c.1173A>G (p.Gly391=) rs753309112 0.00001
NM_000245.4(MET):c.1185G>A (p.Glu395=) rs1369230650 0.00001
NM_000245.4(MET):c.1221A>G (p.Ser407=) rs200003116 0.00001
NM_000245.4(MET):c.1224C>G (p.Gly408=) rs965135961 0.00001
NM_000245.4(MET):c.1266A>G (p.Thr422=) rs1407970053 0.00001
NM_000245.4(MET):c.1305C>T (p.Ser435=) rs762520351 0.00001
NM_000245.4(MET):c.1311C>G (p.Val437=) rs1324576950 0.00001
NM_000245.4(MET):c.1365T>G (p.Leu455=) rs369639118 0.00001
NM_000245.4(MET):c.1371A>G (p.Thr457=) rs201632219 0.00001
NM_000245.4(MET):c.1393-6G>A rs202194405 0.00001
NM_000245.4(MET):c.141C>T (p.Thr47=) rs864622222 0.00001
NM_000245.4(MET):c.1450C>T (p.His484Tyr) rs771272439 0.00001
NM_000245.4(MET):c.1455A>G (p.Pro485=) rs1554390925 0.00001
NM_000245.4(MET):c.1476G>A (p.Val492=) rs528788133 0.00001
NM_000245.4(MET):c.147A>G (p.Glu49=) rs398123567 0.00001
NM_000245.4(MET):c.1497T>C (p.Asn499=) rs199922867 0.00001
NM_000245.4(MET):c.150A>G (p.Thr50=) rs199898841 0.00001
NM_000245.4(MET):c.1572G>A (p.Gln524=) rs201878238 0.00001
NM_000245.4(MET):c.1584A>G (p.Gln528=) rs55755322 0.00001
NM_000245.4(MET):c.1596C>T (p.Ala532=) rs746546046 0.00001
NM_000245.4(MET):c.1635T>C (p.Cys545=) rs1465559829 0.00001
NM_000245.4(MET):c.1639C>A (p.Arg547=) rs1047795344 0.00001
NM_000245.4(MET):c.1644G>A (p.Ser548=) rs750584257 0.00001
NM_000245.4(MET):c.1662G>A (p.Gly554=) rs779328011 0.00001
NM_000245.4(MET):c.1677G>T (p.Gln559His) rs1290346524 0.00001
NM_000245.4(MET):c.1701+7A>T rs749081367 0.00001
NM_000245.4(MET):c.1786T>A (p.Phe596Ile) rs879254332 0.00001
NM_000245.4(MET):c.1812C>T (p.Leu604=) rs1412870024 0.00001
NM_000245.4(MET):c.1839T>G (p.Thr613=) rs373586966 0.00001
NM_000245.4(MET):c.1854G>A (p.Thr618=) rs367764141 0.00001
NM_000245.4(MET):c.1887C>T (p.Ala629=) rs1191956704 0.00001
NM_000245.4(MET):c.1902C>T (p.Phe634=) rs772450441 0.00001
NM_000245.4(MET):c.1937C>A (p.Thr646Lys) rs751307227 0.00001
NM_000245.4(MET):c.1956C>T (p.Phe652=) rs756154521 0.00001
NM_000245.4(MET):c.1998C>T (p.Tyr666=) rs566540058 0.00001
NM_000245.4(MET):c.2046A>G (p.Leu682=) rs760609715 0.00001
NM_000245.4(MET):c.2073A>G (p.Ser691=) rs765318603 0.00001
NM_000245.4(MET):c.2097A>G (p.Leu699=) rs199585804 0.00001
NM_000245.4(MET):c.2118T>C (p.Ile706=) rs958023403 0.00001
NM_000245.4(MET):c.2124A>G (p.Glu708=) rs769757694 0.00001
NM_000245.4(MET):c.2130T>C (p.Tyr710=) rs775235138 0.00001
NM_000245.4(MET):c.2136A>G (p.Pro712=) rs774439479 0.00001
NM_000245.4(MET):c.2191C>A (p.Arg731=) rs377336878 0.00001
NM_000245.4(MET):c.2196G>A (p.Glu732=) rs1376208948 0.00001
NM_000245.4(MET):c.2214C>T (p.Tyr738=) rs777367882 0.00001
NM_000245.4(MET):c.2283A>C (p.Thr761=) rs779694924 0.00001
NM_000245.4(MET):c.2370T>C (p.Cys790=) rs942322578 0.00001
NM_000245.4(MET):c.2439C>T (p.Leu813=) rs757296777 0.00001
NM_000245.4(MET):c.2466G>A (p.Met822Ile) rs780538636 0.00001
NM_000245.4(MET):c.2496T>C (p.Asp832=) rs769035394 0.00001
NM_000245.4(MET):c.2514T>C (p.Asn838=) rs1196399036 0.00001
NM_000245.4(MET):c.2547G>C (p.Met849Ile) rs747989932 0.00001
NM_000245.4(MET):c.255G>A (p.Lys85=) rs1327946446 0.00001
NM_000245.4(MET):c.2667T>G (p.Ser889=) rs1794770224 0.00001
NM_000245.4(MET):c.2677T>A (p.Leu893Ile) rs376104371 0.00001
NM_000245.4(MET):c.2685G>A (p.Thr895=) rs760722037 0.00001
NM_000245.4(MET):c.268C>T (p.Leu90=) rs376966336 0.00001
NM_000245.4(MET):c.2754C>T (p.Thr918=) rs770886012 0.00001
NM_000245.4(MET):c.2805T>A (p.Ile935=) rs763131600 0.00001
NM_000245.4(MET):c.291A>G (p.Pro97=) rs1584876383 0.00001
NM_000245.4(MET):c.297G>A (p.Gln99=) rs1584876390 0.00001
NM_000245.4(MET):c.3152T>C (p.Val1051Ala) rs1319458719 0.00001
NM_000245.4(MET):c.315C>T (p.Ala105=) rs1428685262 0.00001
NM_000245.4(MET):c.3195A>G (p.Ala1065=) rs1794952295 0.00001
NM_000245.4(MET):c.3216G>A (p.Gly1072=) rs2117031874 0.00001
NM_000245.4(MET):c.3231T>A (p.Ile1077=) rs1251215478 0.00001
NM_000245.4(MET):c.3261G>A (p.Gly1087=) rs1422966258 0.00001
NM_000245.4(MET):c.3276A>T (p.Val1092=) rs757338659 0.00001
NM_000245.4(MET):c.3289T>C (p.Leu1097=) rs45583838 0.00001
NM_000245.4(MET):c.3292T>C (p.Leu1098=) rs978734201 0.00001
NM_000245.4(MET):c.3318C>T (p.His1106=) rs755500683 0.00001
NM_000245.4(MET):c.3387C>A (p.Ile1129=) rs371927164 0.00001
NM_000245.4(MET):c.3423G>A (p.Ser1141=) rs567551556 0.00001
NM_000245.4(MET):c.3427C>T (p.Leu1143=) rs774334135 0.00001
NM_000245.4(MET):c.3442C>A (p.Arg1148=) rs879254336 0.00001
NM_000245.4(MET):c.3474A>G (p.Pro1158=) rs200659843 0.00001
NM_000245.4(MET):c.3489A>T (p.Gly1163=) rs753101831 0.00001
NM_000245.4(MET):c.3495T>C (p.Leu1165=) rs758902071 0.00001
NM_000245.4(MET):c.3594A>G (p.Lys1198=) rs199883640 0.00001
NM_000245.4(MET):c.366C>T (p.Val122=) rs202026780 0.00001
NM_000245.4(MET):c.3672T>C (p.Gly1224=) rs762218595 0.00001
NM_000245.4(MET):c.3684C>T (p.Asp1228=) rs786201612 0.00001
NM_000245.4(MET):c.369C>T (p.Asp123=) rs1417054613 0.00001
NM_000245.4(MET):c.372C>G (p.Thr124=) rs574911056 0.00001
NM_000245.4(MET):c.3735G>A (p.Leu1245=) rs1323787899 0.00001
NM_000245.4(MET):c.3735G>T (p.Leu1245=) rs1323787899 0.00001
NM_000245.4(MET):c.3804C>G (p.Ser1268=) rs764822445 0.00001
NM_000245.4(MET):c.3846A>G (p.Pro1282=) rs1309638201 0.00001
NM_000245.4(MET):c.3864C>T (p.Asn1288=) rs768627036 0.00001
NM_000245.4(MET):c.3870T>C (p.Phe1290=) rs926365001 0.00001
NM_000245.4(MET):c.3966T>A (p.Pro1322=) rs372608840 0.00001
NM_000245.4(MET):c.4008G>A (p.Arg1336=) rs373857586 0.00001
NM_000245.4(MET):c.4068T>C (p.Tyr1356=) rs767214353 0.00001
NM_000245.4(MET):c.4122C>T (p.Asn1374=) rs370767911 0.00001
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr) rs764303128 0.00001
NM_000245.4(MET):c.543A>C (p.Gly181=) rs1316581869 0.00001
NM_000245.4(MET):c.546C>A (p.Ala182=) rs570036369 0.00001
NM_000245.4(MET):c.572G>A (p.Arg191Gln) rs879254342 0.00001
NM_000245.4(MET):c.585C>T (p.Phe195=) rs587780737 0.00001
NM_000245.4(MET):c.594C>T (p.Gly198=) rs549459978 0.00001
NM_000245.4(MET):c.600C>G (p.Thr200=) rs1225303075 0.00001
NM_000245.4(MET):c.617T>C (p.Phe206Ser) rs746295363 0.00001
NM_000245.4(MET):c.624T>C (p.Asp208=) rs1285814811 0.00001
NM_000245.4(MET):c.630A>G (p.Pro210=) rs770257335 0.00001
NM_000245.4(MET):c.631T>C (p.Leu211=) rs1584877307 0.00001
NM_000245.4(MET):c.65G>T (p.Ser22Ile) rs587780739 0.00001
NM_000245.4(MET):c.669A>G (p.Lys223=) rs863224380 0.00001
NM_000245.4(MET):c.675T>C (p.Gly225=) rs368249740 0.00001
NM_000245.4(MET):c.720G>A (p.Glu240=) rs1450906177 0.00001
NM_000245.4(MET):c.732T>G (p.Ser244=) rs770202229 0.00001
NM_000245.4(MET):c.738C>T (p.Pro246=) rs1461455526 0.00001
NM_000245.4(MET):c.753T>C (p.His251=) rs1392829448 0.00001
NM_000245.4(MET):c.75G>A (p.Glu25=) rs925600985 0.00001
NM_000245.4(MET):c.768C>T (p.Asn256=) rs1221580502 0.00001
NM_000245.4(MET):c.800A>G (p.Glu267Gly) rs751564290 0.00001
NM_000245.4(MET):c.805C>T (p.Leu269=) rs781257386 0.00001
NM_000245.4(MET):c.813T>C (p.Ala271=) rs750586651 0.00001
NM_000245.4(MET):c.828A>G (p.Thr276=) rs779512046 0.00001
NM_000245.4(MET):c.86C>T (p.Ala29Val) rs775439897 0.00001
NM_000245.4(MET):c.88C>T (p.Leu30=) rs1060504939 0.00001
NM_000245.4(MET):c.912A>G (p.Arg304=) rs762885066 0.00001
NM_000245.4(MET):c.974C>T (p.Pro325Leu) rs780802614 0.00001
NM_000245.4(MET):c.99C>T (p.Ser33=) rs1363905218 0.00001
NM_000245.2:c.-14-3312A>T
NM_000245.4(MET):c.*1244G>A rs144559852
NM_000245.4(MET):c.*2G>A
NM_000245.4(MET):c.*376G>T rs553602374
NM_000245.4(MET):c.*5A>G
NM_000245.4(MET):c.*9C>T
NM_000245.4(MET):c.*9del
NM_000245.4(MET):c.1011G>A (p.Leu337=) rs886061942
NM_000245.4(MET):c.1014T>C (p.Asn338=) rs2116603344
NM_000245.4(MET):c.1027T>C (p.Phe343Leu) rs774022115
NM_000245.4(MET):c.1029C>T (p.Phe343=) rs56340719
NM_000245.4(MET):c.102G>A (p.Glu34=)
NM_000245.4(MET):c.1041A>C (p.Ala347=) rs1791515202
NM_000245.4(MET):c.1050G>A (p.Lys350=) rs1060504940
NM_000245.4(MET):c.1056T>C (p.Asp352=) rs2116604421
NM_000245.4(MET):c.108T>C (p.Asn36=) rs2116580390
NM_000245.4(MET):c.1114G>A (p.Asp372Asn) rs773200558
NM_000245.4(MET):c.1116C>T (p.Asp372=) rs760727137
NM_000245.4(MET):c.1119C>T (p.Phe373=)
NM_000245.4(MET):c.1125C>G (p.Asn375Lys) rs776693512
NM_000245.4(MET):c.1125C>T (p.Asn375=) rs776693512
NM_000245.4(MET):c.1128G>A (p.Lys376=)
NM_000245.4(MET):c.1134C>T (p.Val378=)
NM_000245.4(MET):c.1143C>T (p.Asn381=) rs764685570
NM_000245.4(MET):c.1146T>C (p.Asn382=) rs2116606494
NM_000245.4(MET):c.1149G>A (p.Val383=) rs1033586067
NM_000245.4(MET):c.1149G>T (p.Val383=) rs1033586067
NM_000245.4(MET):c.1158C>A (p.Leu386=) rs1554379184
NM_000245.4(MET):c.1179T>C (p.Asn393=) rs1430726033
NM_000245.4(MET):c.1188C>T (p.His396=) rs2116607559
NM_000245.4(MET):c.1203A>G (p.Thr401=) rs199892100
NM_000245.4(MET):c.120G>A (p.Lys40=)
NM_000245.4(MET):c.1218A>G (p.Ser406=) rs1358705636
NM_000245.4(MET):c.1227T>C (p.Cys409=) rs2116779815
NM_000245.4(MET):c.1239T>C (p.Arg413=)
NM_000245.4(MET):c.1249C>A (p.Arg417=) rs369705803
NM_000245.4(MET):c.1251A>G (p.Arg417=)
NM_000245.4(MET):c.1263C>A (p.Thr421=) rs45499391
NM_000245.4(MET):c.126G>A (p.Gln42=)
NM_000245.4(MET):c.1272G>A (p.Leu424=) rs1342295714
NM_000245.4(MET):c.1275G>A (p.Gln425=) rs201181441
NM_000245.4(MET):c.1296T>C (p.Gly432=) rs200255054
NM_000245.4(MET):c.12C>G (p.Pro4=) rs772251895
NM_000245.4(MET):c.1311C>A (p.Val437=)
NM_000245.4(MET):c.1329C>T (p.Ser443=)
NM_000245.4(MET):c.1347C>T (p.Asp449=)
NM_000245.4(MET):c.1356A>T (p.Ile452=)
NM_000245.4(MET):c.135C>T (p.Asn45=) rs1562883006
NM_000245.4(MET):c.1368G>T (p.Gly456=)
NM_000245.4(MET):c.1393-10dup
NM_000245.4(MET):c.1425T>A (p.Pro475=) rs2116826219
NM_000245.4(MET):c.143C>T (p.Ala48Val) rs80256822
NM_000245.4(MET):c.1443G>A (p.Leu481=)
NM_000245.4(MET):c.1449C>T (p.Ser483=) rs1458827441
NM_000245.4(MET):c.144_147delinsAGAG (p.Ala48_Glu49=)
NM_000245.4(MET):c.1461T>C (p.Ser487=)
NM_000245.4(MET):c.1470G>C (p.Val490=) rs1281860482
NM_000245.4(MET):c.1479G>A (p.Glu493=) rs1793383550
NM_000245.4(MET):c.1485A>G (p.Thr495=) rs760256871
NM_000245.4(MET):c.1486T>C (p.Leu496=)
NM_000245.4(MET):c.1509G>T (p.Leu503=)
NM_000245.4(MET):c.1518T>C (p.Thr506=) rs902884572
NM_000245.4(MET):c.1528-13del rs781735854
NM_000245.4(MET):c.1528-39_1528-38delinsAT rs1554391208
NM_000245.4(MET):c.1530C>T (p.Ile510=) rs2116833737
NM_000245.4(MET):c.1533G>C (p.Thr511=) rs866306366
NM_000245.4(MET):c.1542A>G (p.Pro514=) rs1584923096
NM_000245.4(MET):c.1543T>C (p.Leu515=)
NM_000245.4(MET):c.1545G>A (p.Leu515=)
NM_000245.4(MET):c.1548T>C (p.Asn516=) rs1554391232
NM_000245.4(MET):c.1602C>T (p.Pro534=) rs1554391268
NM_000245.4(MET):c.1611G>A (p.Gln537=) rs2116835903
NM_000245.4(MET):c.1629C>T (p.Asp543=) rs2116836336
NM_000245.4(MET):c.1638G>A (p.Val546=) rs1240760202
NM_000245.4(MET):c.1647G>A (p.Glu549=) rs1584923365
NM_000245.4(MET):c.1650A>G (p.Glu550=) rs2116836870
NM_000245.4(MET):c.1656G>A (p.Leu552=) rs2116837050
NM_000245.4(MET):c.165C>T (p.Val55=) rs915978772
NM_000245.4(MET):c.1665A>G (p.Thr555=) rs1554391336
NM_000245.4(MET):c.1677G>A (p.Gln559=) rs1290346524
NM_000245.4(MET):c.1686G>C (p.Leu562=) rs2116837926
NM_000245.4(MET):c.1689T>C (p.Pro563=) rs1282444375
NM_000245.4(MET):c.1692A>G (p.Ala564=) rs780855618
NM_000245.4(MET):c.1701+57_1701+58dup rs112241458
NM_000245.4(MET):c.1701+58del rs112241458
NM_000245.4(MET):c.1701+58dup rs112241458
NM_000245.4(MET):c.1701+59G>T rs759007523
NM_000245.4(MET):c.1707C>T (p.Phe569=) rs2485699628
NM_000245.4(MET):c.1719A>C (p.Ala573=) rs199776656
NM_000245.4(MET):c.1719A>G (p.Ala573=) rs199776656
NM_000245.4(MET):c.1722C>T (p.Pro574=) rs1562920359
NM_000245.4(MET):c.1737A>G (p.Thr579=)
NM_000245.4(MET):c.1741C>T (p.Leu581=) rs1584939151
NM_000245.4(MET):c.1746C>T (p.Thr582=) rs2116909310
NM_000245.4(MET):c.1803T>C (p.Thr601=) rs763481809
NM_000245.4(MET):c.1833C>A (p.Thr611=) rs924927810
NM_000245.4(MET):c.183C>T (p.His61=)
NM_000245.4(MET):c.1851C>T (p.Ser617=)
NM_000245.4(MET):c.1862+15dup rs768074029
NM_000245.4(MET):c.1863-5del rs766900241
NM_000245.4(MET):c.1863-5dup rs766900241
NM_000245.4(MET):c.1869A>G (p.Lys623=) rs2485710565
NM_000245.4(MET):c.1875A>G (p.Thr625=)
NM_000245.4(MET):c.1896G>A (p.Lys632=) rs749484691
NM_000245.4(MET):c.1898A>T (p.His633Leu) rs45586239
NM_000245.4(MET):c.18G>A (p.Val6=)
NM_000245.4(MET):c.1905T>C (p.Asn635=)
NM_000245.4(MET):c.1920T>C (p.Ile640=)
NM_000245.4(MET):c.1923A>G (p.Ser641=) rs2116920605
NM_000245.4(MET):c.1929C>T (p.Gly643=) rs2485711195
NM_000245.4(MET):c.1953A>C (p.Thr651=)
NM_000245.4(MET):c.1962T>C (p.Tyr654=) rs2116921387
NM_000245.4(MET):c.1965+10_1965+11insAA rs754083112
NM_000245.4(MET):c.1989G>T (p.Ser663=) rs201180585
NM_000245.4(MET):c.2016C>T (p.Gly672=) rs768149852
NM_000245.4(MET):c.201T>C (p.Thr67=) rs2485506620
NM_000245.4(MET):c.2025T>C (p.Leu675=)
NM_000245.4(MET):c.2046A>C (p.Leu682=) rs760609715
NM_000245.4(MET):c.2055G>T (p.Gly685=) rs766401668
NM_000245.4(MET):c.2061T>C (p.Ser687=) rs776651937
NM_000245.4(MET):c.2070T>C (p.Ile690=) rs759396158
NM_000245.4(MET):c.2073A>T (p.Ser691=)
NM_000245.4(MET):c.2079T>A (p.Gly693=) rs1584941818
NM_000245.4(MET):c.2079T>C (p.Gly693=) rs1584941818
NM_000245.4(MET):c.207C>T (p.Tyr69=) rs1454856933
NM_000245.4(MET):c.2082A>G (p.Gly694=)
NM_000245.4(MET):c.2088A>G (p.Thr696=) rs201378674
NM_000245.4(MET):c.2091T>C (p.Cys697=) rs1425084051
NM_000245.4(MET):c.2102+20del rs2116925653
NM_000245.4(MET):c.2103-7del rs761227260
NM_000245.4(MET):c.2103-7dup rs761227260
NM_000245.4(MET):c.2103-8_2103-7del rs761227260
NM_000245.4(MET):c.2157G>A (p.Glu719=) rs2116930988
NM_000245.4(MET):c.2163T>A (p.Ala721=) rs2116931078
NM_000245.4(MET):c.2169A>G (p.Lys723=) rs2485720403
NM_000245.4(MET):c.2181C>T (p.Asp727=) rs1487292146
NM_000245.4(MET):c.2202C>T (p.Ser734=) rs2116931828
NM_000245.4(MET):c.2211T>C (p.Ser737=)
NM_000245.4(MET):c.2220A>G (p.Glu740=) rs1554395720
NM_000245.4(MET):c.222T>C (p.Asn74=) rs767934760
NM_000245.4(MET):c.2232C>G (p.Val744=) rs1060504944
NM_000245.4(MET):c.2259T>C (p.Phe753=) rs2116932790
NM_000245.4(MET):c.2289T>C (p.Val763=)
NM_000245.4(MET):c.2301G>A (p.Leu767=)
NM_000245.4(MET):c.2304T>C (p.Asn768=) rs2116938117
NM_000245.4(MET):c.2320A>C (p.Arg774=) rs2116938453
NM_000245.4(MET):c.2322A>G (p.Arg774=) rs2116938491
NM_000245.4(MET):c.2328C>T (p.Val776=) rs1794311792
NM_000245.4(MET):c.2334T>C (p.Asn778=)
NM_000245.4(MET):c.2337G>A (p.Val779=) rs863224377
NM_000245.4(MET):c.2337G>T (p.Val779=) rs863224377
NM_000245.4(MET):c.2346A>G (p.Ala782=)
NM_000245.4(MET):c.2355C>T (p.Asn785=)
NM_000245.4(MET):c.2361A>G (p.Thr787=) rs1027607387
NM_000245.4(MET):c.2367A>C (p.Ala789=) rs910873191
NM_000245.4(MET):c.2367A>G (p.Ala789=) rs910873191
NM_000245.4(MET):c.2394A>T (p.Ile798=)
NM_000245.4(MET):c.2397C>T (p.Ile799=) rs1584946843
NM_000245.4(MET):c.2406C>A (p.Thr802=) rs1433483763
NM_000245.4(MET):c.2406C>T (p.Thr802=) rs1433483763
NM_000245.4(MET):c.2409T>C (p.Thr803=) rs1584946860
NM_000245.4(MET):c.240G>A (p.Lys80=) rs2116583694
NM_000245.4(MET):c.2412T>C (p.Pro804=) rs2116954506
NM_000245.4(MET):c.2424G>A (p.Gln808=) rs2116954783
NM_000245.4(MET):c.2427G>C (p.Leu809=)
NM_000245.4(MET):c.2434C>G (p.Gln812Glu) rs398123568
NM_000245.4(MET):c.2442C>T (p.Pro814=) rs1794464524
NM_000245.4(MET):c.2443C>T (p.Leu815=) rs2116955196
NM_000245.4(MET):c.2451C>A (p.Thr817=) rs2116955318
NM_000245.4(MET):c.2451C>G (p.Thr817=) rs2116955318
NM_000245.4(MET):c.2457C>A (p.Ala819=) rs746040712
NM_000245.4(MET):c.246T>G (p.Ala82=)
NM_000245.4(MET):c.2475G>A (p.Gly825=) rs891908277
NM_000245.4(MET):c.2499C>G (p.Leu833=)
NM_000245.4(MET):c.249G>A (p.Glu83=) rs751158831
NM_000245.4(MET):c.2505T>C (p.Tyr835=)
NM_000245.4(MET):c.2520G>A (p.Val840=) rs2485742546
NM_000245.4(MET):c.2526G>A (p.Lys842=)
NM_000245.4(MET):c.252C>T (p.Tyr84=) rs1584876265
NM_000245.4(MET):c.2550C>T (p.Ile850=) rs1424567821
NM_000245.4(MET):c.2559C>T (p.Gly853=) rs2116957166
NM_000245.4(MET):c.2580T>A (p.Ile860=)
NM_000245.4(MET):c.2584-10_2584-9del rs57349036
NM_000245.4(MET):c.2584-11_2584-9del rs57349036
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.2584-9del rs57349036
NM_000245.4(MET):c.2584-9dup rs57349036
NM_000245.4(MET):c.2589T>C (p.Asn863=) rs2116982492
NM_000245.4(MET):c.258T>G (p.Thr86=) rs756911444
NM_000245.4(MET):c.2595T>C (p.Ile865=) rs2116982595
NM_000245.4(MET):c.2601T>C (p.Pro867=)
NM_000245.4(MET):c.2607A>G (p.Ala869=)
NM_000245.4(MET):c.261G>T (p.Gly87=) rs2116584241
NM_000245.4(MET):c.2622G>C (p.Val874=) rs2485766903
NM_000245.4(MET):c.2622G>T (p.Val874=)
NM_000245.4(MET):c.2625A>G (p.Leu875=)
NM_000245.4(MET):c.2676T>C (p.Val892=)
NM_000245.4(MET):c.2697C>T (p.Asp899=) rs1584953336
NM_000245.4(MET):c.2698C>T (p.Leu900=)
NM_000245.4(MET):c.2700G>A (p.Leu900=) rs921308683
NM_000245.4(MET):c.2703G>A (p.Leu901=) rs1374413099
NM_000245.4(MET):c.2707T>C (p.Leu903=) rs2116984374
NM_000245.4(MET):c.2712C>T (p.Asn904=) rs2116984453
NM_000245.4(MET):c.2718G>A (p.Glu906=) rs752013993
NM_000245.4(MET):c.2719C>T (p.Leu907=) rs1237905483
NM_000245.4(MET):c.2721A>G (p.Leu907=)
NM_000245.4(MET):c.2736G>A (p.Lys912=)
NM_000245.4(MET):c.273A>G (p.Glu91=)
NM_000245.4(MET):c.2754C>A (p.Thr918=) rs770886012
NM_000245.4(MET):c.2763A>G (p.Gly921=)
NM_000245.4(MET):c.2787G>A (p.Gln929=)
NM_000245.4(MET):c.2790T>C (p.Asn930=) rs933744184
NM_000245.4(MET):c.279A>G (p.Pro93=) rs780928472
NM_000245.4(MET):c.27T>C (p.Pro9=) rs2116578238
NM_000245.4(MET):c.2800T>C (p.Leu934=) rs1554398274
NM_000245.4(MET):c.280G>A (p.Asp94Asn) rs899151863
NM_000245.4(MET):c.2859G>C (p.Leu953=) rs1355100822
NM_000245.4(MET):c.2863C>T (p.Leu955=) rs2116993049
NM_000245.4(MET):c.2868A>G (p.Lys956=)
NM_000245.4(MET):c.2874A>G (p.Arg958=) rs1452848504
NM_000245.4(MET):c.2920A>C (p.Arg974=)
NM_000245.4(MET):c.294T>C (p.Cys98=) rs2116585117
NM_000245.4(MET):c.2952A>G (p.Val984=)
NM_000245.4(MET):c.2967A>T (p.Val989=)
NM_000245.4(MET):c.3015T>C (p.Ala1005=) rs2116997626
NM_000245.4(MET):c.3033G>A (p.Gln1011=)
NM_000245.4(MET):c.303C>T (p.Cys101=) rs2116585329
NM_000245.4(MET):c.3042T>C (p.Asn1014=) rs2117029559
NM_000245.4(MET):c.3060A>C (p.Ser1020=) rs2117029833
NM_000245.4(MET):c.3060A>G (p.Ser1020=)
NM_000245.4(MET):c.3060A>T (p.Ser1020=) rs2117029833
NM_000245.4(MET):c.3063C>T (p.Cys1021=) rs2117029872
NM_000245.4(MET):c.3117C>T (p.Asp1039=) rs575907920
NM_000245.4(MET):c.3123T>C (p.Asp1041=)
NM_000245.4(MET):c.3129C>T (p.Ser1043=) rs2117030756
NM_000245.4(MET):c.3135A>G (p.Pro1045=) rs1584957836
NM_000245.4(MET):c.3139C>T (p.Leu1047=) rs2117030875
NM_000245.4(MET):c.3144A>G (p.Gln1048=)
NM_000245.4(MET):c.3150T>C (p.Thr1050=) rs2485806709
NM_000245.4(MET):c.3153C>T (p.Val1051=)
NM_000245.4(MET):c.3159T>A (p.Ile1053=)
NM_000245.4(MET):c.3183G>A (p.Glu1061=) rs1554398889
NM_000245.4(MET):c.3201G>A (p.Gln1067=) rs1447318689
NM_000245.4(MET):c.3216G>T (p.Gly1072=) rs2117031874
NM_000245.4(MET):c.3219C>G (p.Pro1073=)
NM_000245.4(MET):c.3222T>C (p.Ser1074=) rs2117031958
NM_000245.4(MET):c.3228G>A (p.Leu1076=)
NM_000245.4(MET):c.3246A>G (p.Glu1082=) rs1794955289
NM_000245.4(MET):c.324A>C (p.Ser108=)
NM_000245.4(MET):c.3303T>C (p.Asp1101=) rs1304765887
NM_000245.4(MET):c.3315T>C (p.Ile1105=) rs2485816327
NM_000245.4(MET):c.3321T>C (p.Cys1107=) rs1584959989
NM_000245.4(MET):c.3324T>A (p.Ala1108=)
NM_000245.4(MET):c.3327G>A (p.Val1109=) rs2117040350
NM_000245.4(MET):c.3345C>T (p.Ile1115=) rs1554399534
NM_000245.4(MET):c.3351C>T (p.Asp1117=)
NM_000245.4(MET):c.3360A>G (p.Glu1120=) rs1795066858
NM_000245.4(MET):c.3369A>G (p.Gln1123=) rs200138825
NM_000245.4(MET):c.3372T>C (p.Phe1124=) rs2117045349
NM_000245.4(MET):c.3387C>T (p.Ile1129=) rs371927164
NM_000245.4(MET):c.3399T>C (p.Asp1133=) rs2117046045
NM_000245.4(MET):c.3408T>C (p.His1136=) rs202110450
NM_000245.4(MET):c.3414T>C (p.Asn1138=) rs769474791
NM_000245.4(MET):c.3439C>T (p.Leu1147=) rs1795070786
NM_000245.4(MET):c.3468C>T (p.Val1156=) rs2117047472
NM_000245.4(MET):c.3483A>G (p.Lys1161=)
NM_000245.4(MET):c.3486T>C (p.His1162=) rs765565377
NM_000245.4(MET):c.3489A>C (p.Gly1163=) rs753101831
NM_000245.4(MET):c.3504C>T (p.Phe1168=) rs2117048132
NM_000245.4(MET):c.351C>T (p.Asn117=)
NM_000245.4(MET):c.3523-241C>T rs73471130
NM_000245.4(MET):c.3531T>G (p.Thr1177=) rs1584964218
NM_000245.4(MET):c.3567C>A (p.Ala1189=) rs1022818610
NM_000245.4(MET):c.3567C>T (p.Ala1189=)
NM_000245.4(MET):c.3582T>C (p.Tyr1194=) rs1584964312
NM_000245.4(MET):c.3618T>C (p.Ala1206=)
NM_000245.4(MET):c.3678C>T (p.Ala1226=) rs1584965488
NM_000245.4(MET):c.3699A>G (p.Glu1233=)
NM_000245.4(MET):c.36C>A (p.Leu12=) rs188625702
NM_000245.4(MET):c.3708T>C (p.Ser1236=) rs2117066371
NM_000245.4(MET):c.3726T>A (p.Gly1242=) rs2117066669
NM_000245.4(MET):c.3741G>C (p.Val1247=) rs1584965646
NM_000245.4(MET):c.3765G>A (p.Leu1255=) rs1584965685
NM_000245.4(MET):c.3765G>C (p.Leu1255=) rs1584965685
NM_000245.4(MET):c.3783C>G (p.Thr1261=) rs1795213981
NM_000245.4(MET):c.378T>C (p.Tyr126=) rs2116587316
NM_000245.4(MET):c.3804C>T (p.Ser1268=) rs764822445
NM_000245.4(MET):c.3807T>C (p.Phe1269=) rs1554402156
NM_000245.4(MET):c.3813G>A (p.Val1271=)
NM_000245.4(MET):c.3816C>T (p.Leu1272=) rs757012119
NM_000245.4(MET):c.3834A>C (p.Thr1278=) rs1584977880
NM_000245.4(MET):c.3840A>G (p.Gly1280=)
NM_000245.4(MET):c.3855T>C (p.Pro1285=) rs1584977903
NM_000245.4(MET):c.3861A>G (p.Val1287=) rs749438942
NM_000245.4(MET):c.3867C>T (p.Thr1289=) rs587780532
NM_000245.4(MET):c.3885C>T (p.Tyr1295=) rs1795648934
NM_000245.4(MET):c.3889T>C (p.Leu1297=) rs1584977995
NM_000245.4(MET):c.3900A>G (p.Arg1300=)
NM_000245.4(MET):c.3906C>T (p.Leu1302=) rs1584978021
NM_000245.4(MET):c.3915C>T (p.Pro1305=) rs555099334
NM_000245.4(MET):c.3936-13_3936-10del rs745366999
NM_000245.4(MET):c.3945A>T (p.Val1315=) rs879254340
NM_000245.4(MET):c.3963C>T (p.His1321=) rs767267441
NM_000245.4(MET):c.3996A>G (p.Glu1332=)
NM_000245.4(MET):c.3999G>A (p.Leu1333=) rs2117111344
NM_000245.4(MET):c.399T>C (p.Cys133=)
NM_000245.4(MET):c.4002G>T (p.Val1334=) rs1214651018
NM_000245.4(MET):c.4014_4017delinsGGCA (p.Ser1338_Ala1339=)
NM_000245.4(MET):c.4017G>C (p.Ala1339=) rs2023748
NM_000245.4(MET):c.4038G>A (p.Gly1346=) rs886038413
NM_000245.4(MET):c.4041G>A (p.Glu1347=) rs1562941622
NM_000245.4(MET):c.4044C>T (p.His1348=) rs1386889641
NM_000245.4(MET):c.4047T>C (p.Tyr1349=) rs2117112084
NM_000245.4(MET):c.4059C>T (p.Asn1353=) rs45571634
NM_000245.4(MET):c.4077A>G (p.Val1359=) rs2117112578
NM_000245.4(MET):c.4086C>A (p.Val1362=) rs753757242
NM_000245.4(MET):c.4086C>G (p.Val1362=) rs753757242
NM_000245.4(MET):c.4101T>C (p.Ser1367=) rs2117112965
NM_000245.4(MET):c.4107G>A (p.Leu1369=) rs1795663624
NM_000245.4(MET):c.4110A>G (p.Ser1370=) rs1795663778
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly) rs773898036
NM_000245.4(MET):c.4143A>G (p.Thr1381=)
NM_000245.4(MET):c.4144C>A (p.Arg1382=) rs200315561
NM_000245.4(MET):c.4145G>T (p.Arg1382Leu) rs752694306
NM_000245.4(MET):c.4146A>G (p.Arg1382=) rs1185475324
NM_000245.4(MET):c.4152C>T (p.Ala1384=)
NM_000245.4(MET):c.4167A>G (p.Thr1389=) rs2117114225
NM_000245.4(MET):c.4170A>G (p.Ser1390=) rs1584978746
NM_000245.4(MET):c.4173G>A (p.Ter1391=)
NM_000245.4(MET):c.417G>C (p.Gly139=)
NM_000245.4(MET):c.438T>C (p.Phe146=)
NM_000245.4(MET):c.43C>T (p.Leu15=) rs2116578733
NM_000245.4(MET):c.468G>C (p.Ser156=) rs576502224
NM_000245.4(MET):c.468G>T (p.Ser156=) rs576502224
NM_000245.4(MET):c.471G>A (p.Glu157=) rs1451799154
NM_000245.4(MET):c.489C>T (p.Ser163=)
NM_000245.4(MET):c.504G>A (p.Glu168=) rs55985569
NM_000245.4(MET):c.525T>C (p.Cys175=)
NM_000245.4(MET):c.528G>A (p.Val176=) rs2485510319
NM_000245.4(MET):c.528G>C (p.Val176=)
NM_000245.4(MET):c.531G>T (p.Val177=) rs755804127
NM_000245.4(MET):c.540G>A (p.Leu180=) rs1791488808
NM_000245.4(MET):c.564A>G (p.Val188=) rs1791489742
NM_000245.4(MET):c.564A>T (p.Val188=) rs1791489742
NM_000245.4(MET):c.571C>A (p.Arg191=) rs530932258
NM_000245.4(MET):c.576C>T (p.Phe192=) rs2116592376
NM_000245.4(MET):c.597T>C (p.Asn199=) rs2116592884
NM_000245.4(MET):c.600C>T (p.Thr200=)
NM_000245.4(MET):c.612T>C (p.Ser204=) rs2116593289
NM_000245.4(MET):c.615T>C (p.Tyr205=) rs2116593354
NM_000245.4(MET):c.618C>T (p.Phe206=) rs2116593426
NM_000245.4(MET):c.633G>A (p.Leu211=) rs552870344
NM_000245.4(MET):c.639G>C (p.Ser213=) rs587780738
NM_000245.4(MET):c.645A>C (p.Ser215=)
NM_000245.4(MET):c.645A>G (p.Ser215=)
NM_000245.4(MET):c.655C>T (p.Leu219=)
NM_000245.4(MET):c.660G>A (p.Lys220=)
NM_000245.4(MET):c.672T>C (p.Asp224=) rs2116594941
NM_000245.4(MET):c.690G>T (p.Thr230=) rs200138253
NM_000245.4(MET):c.708T>C (p.Asp236=)
NM_000245.4(MET):c.713T>C (p.Leu238Ser) rs34349517
NM_000245.4(MET):c.72G>A (p.Gly24=) rs770829669
NM_000245.4(MET):c.744G>A (p.Lys248=) rs1562884016
NM_000245.4(MET):c.750C>T (p.Val250=) rs2116596869
NM_000245.4(MET):c.762A>G (p.Glu254=) rs760278126
NM_000245.4(MET):c.789G>T (p.Thr263=) rs554190225
NM_000245.4(MET):c.78T>C (p.Cys26=)
NM_000245.4(MET):c.807A>G (p.Leu269=) rs1791503123
NM_000245.4(MET):c.84G>A (p.Glu28=)
NM_000245.4(MET):c.861A>G (p.Gly287=) rs2116599749
NM_000245.4(MET):c.861A>T (p.Gly287=) rs2116599749
NM_000245.4(MET):c.867T>C (p.His289=)
NM_000245.4(MET):c.873C>T (p.Tyr291=)
NM_000245.4(MET):c.885T>G (p.Pro295=) rs2116600237
NM_000245.4(MET):c.891G>A (p.Glu297=) rs1791506647
NM_000245.4(MET):c.909G>A (p.Lys303=)
NM_000245.4(MET):c.921A>G (p.Arg307=) rs2116601014
NM_000245.4(MET):c.93A>G (p.Ala31=) rs763196530
NM_000245.4(MET):c.975T>C (p.Pro325=)
NM_000245.4(MET):c.978G>A (p.Gly326=) rs769507421
NM_000245.4(MET):c.987T>G (p.Leu329=) rs921189227

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