ClinVar Miner

List of variants studied for Renal cell carcinoma, papillary, 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 698
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HGVS dbSNP
ATM, IVS61DS, 2-BP INS, +2TA
NC_000007.13:g.(?_116339129)_(116340348_?)dup
NC_000007.13:g.(?_116339129)_(117144427_?)dup
NC_000007.13:g.(?_116339133)_(116399550_?)dup
NC_000007.13:g.(?_116380900)_(116381085_?)del
NC_000007.13:g.(?_116395399)_(116395579_?)dup
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000551.3(VHL):c.266T>A (p.Leu89His) rs5030807
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_001126112.2(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_001126112.2(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_001126112.2(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_001126112.2(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_001126112.2(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_001126112.2(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_001126112.2(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_001126112.2(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_001126112.2(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_001126112.2(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_001126112.2(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_001126112.2(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_001126112.2(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_001126112.2(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_001126112.2(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_001126112.2(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_001126112.2(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_001126112.2(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_001126112.2(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_001126112.2(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_001126112.2(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_001126112.2(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_001126112.2(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_001126112.2(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_001126112.2(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_001126112.2(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_001126112.2(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_001126112.2(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_001126112.2(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_001126112.2(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_001126112.2(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_001126112.2(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_001126112.2(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_001126112.2(TP53):c.814G>A (p.Val272Met) rs121912657
NM_001126112.2(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_001126112.2(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_001126112.2(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_001126112.2(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_001126112.2(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001126112.2(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_001126112.2(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_001126112.2(TP53):c.841G>C (p.Asp281His) rs764146326
NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_001126112.2(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_001126112.2(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_001126112.2(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_001126112.2(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_001127500.2(MET):c.(?_-1)_1200+?dup
NM_001127500.2(MET):c.1528-?_*2262dup4962
NM_001127500.3(MET):c.*1010G>T rs150534017
NM_001127500.3(MET):c.*1028A>G rs41738
NM_001127500.3(MET):c.*105C>A rs886061945
NM_001127500.3(MET):c.*1220G>A rs139535303
NM_001127500.3(MET):c.*1224C>T rs149713628
NM_001127500.3(MET):c.*1326A>G rs41739
NM_001127500.3(MET):c.*1428G>A rs1621
NM_001127500.3(MET):c.*1460C>G rs886061949
NM_001127500.3(MET):c.*1593G>A rs764929802
NM_001127500.3(MET):c.*1636C>T rs186175651
NM_001127500.3(MET):c.*1784T>A rs554029534
NM_001127500.3(MET):c.*1809C>T rs868554436
NM_001127500.3(MET):c.*1882G>T rs886061950
NM_001127500.3(MET):c.*1886T>A rs536185931
NM_001127500.3(MET):c.*1987C>T rs76322625
NM_001127500.3(MET):c.*2051C>T rs886061951
NM_001127500.3(MET):c.*2079G>A rs757859772
NM_001127500.3(MET):c.*2134T>A rs144156652
NM_001127500.3(MET):c.*216C>A rs149188493
NM_001127500.3(MET):c.*2202G>A rs14456
NM_001127500.3(MET):c.*221G>A rs886061946
NM_001127500.3(MET):c.*2240G>A rs6566
NM_001127500.3(MET):c.*231T>G rs59399612
NM_001127500.3(MET):c.*385G>A rs181068390
NM_001127500.3(MET):c.*41A>G rs771518812
NM_001127500.3(MET):c.*422T>A rs886061947
NM_001127500.3(MET):c.*602C>T rs147343288
NM_001127500.3(MET):c.*655C>T rs563978117
NM_001127500.3(MET):c.*656G>A rs531456758
NM_001127500.3(MET):c.*684G>A rs12540703
NM_001127500.3(MET):c.*76C>T rs527496385
NM_001127500.3(MET):c.*787G>A rs143472935
NM_001127500.3(MET):c.*87G>A rs41281081
NM_001127500.3(MET):c.*944A>G rs565768785
NM_001127500.3(MET):c.*984C>T rs573510587
NM_001127500.3(MET):c.*995G>T rs886061948
NM_001127500.3(MET):c.-12_17del (p.Met1fs) rs1562882716
NM_001127500.3(MET):c.-14-4G>A rs144126521
NM_001127500.3(MET):c.-157T>G rs886061940
NM_001127500.3(MET):c.-165C>G rs886061939
NM_001127500.3(MET):c.-180C>A rs886061938
NM_001127500.3(MET):c.-64G>T rs866509744
NM_001127500.3(MET):c.-66G>T rs886061941
NM_001127500.3(MET):c.-7T>C rs863224376
NM_001127500.3(MET):c.100G>A (p.Glu34Lys) rs764246939
NM_001127500.3(MET):c.1011G>A (p.Leu337=) rs886061942
NM_001127500.3(MET):c.1015G>A (p.Asp339Asn) rs1463245808
NM_001127500.3(MET):c.1019A>G (p.Asp340Gly) rs200690492
NM_001127500.3(MET):c.1030G>A (p.Gly344Arg) rs761768345
NM_001127500.3(MET):c.1039G>A (p.Ala347Thr) rs200074800
NM_001127500.3(MET):c.103A>T (p.Met35Leu) rs375353223
NM_001127500.3(MET):c.1051C>G (p.Pro351Ala) rs587782807
NM_001127500.3(MET):c.1051C>T (p.Pro351Ser)
NM_001127500.3(MET):c.105G>C (p.Met35Ile) rs376244358
NM_001127500.3(MET):c.1063G>A (p.Glu355Lys) rs561295443
NM_001127500.3(MET):c.1069A>G (p.Met357Val) rs1554379058
NM_001127500.3(MET):c.1071G>A (p.Met357Ile)
NM_001127500.3(MET):c.1076G>A (p.Arg359Gln) rs201274041
NM_001127500.3(MET):c.1085T>C (p.Met362Thr) rs77523018
NM_001127500.3(MET):c.1086G>A (p.Met362Ile)
NM_001127500.3(MET):c.1088G>A (p.Cys363Tyr) rs1472858680
NM_001127500.3(MET):c.1099A>G (p.Ile367Val) rs774146015
NM_001127500.3(MET):c.109G>T (p.Val37Leu) rs863224692
NM_001127500.3(MET):c.1106A>G (p.Tyr369Cys) rs370314484
NM_001127500.3(MET):c.110T>C (p.Val37Ala) rs201315884
NM_001127500.3(MET):c.1113C>G (p.Asn371Lys)
NM_001127500.3(MET):c.1114G>A (p.Asp372Asn) rs773200558
NM_001127500.3(MET):c.1123A>G (p.Asn375Asp) rs1375932394
NM_001127500.3(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_001127500.3(MET):c.1125C>A (p.Asn375Lys) rs776693512
NM_001127500.3(MET):c.1125C>G (p.Asn375Lys) rs776693512
NM_001127500.3(MET):c.1131C>T (p.Ile377=) rs28444388
NM_001127500.3(MET):c.1132G>A (p.Val378Ile) rs749738523
NM_001127500.3(MET):c.1136A>G (p.Asn379Ser) rs1320718414
NM_001127500.3(MET):c.114T>A (p.Asn38Lys) rs863224693
NM_001127500.3(MET):c.1153T>A (p.Cys385Ser) rs1562884601
NM_001127500.3(MET):c.1157T>G (p.Leu386Arg) rs1554379180
NM_001127500.3(MET):c.116T>C (p.Met39Thr) rs879254330
NM_001127500.3(MET):c.1171G>A (p.Gly391Arg) rs587778443
NM_001127500.3(MET):c.1172G>T (p.Gly391Val)
NM_001127500.3(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_001127500.3(MET):c.1178A>G (p.Asn393Ser)
NM_001127500.3(MET):c.1180C>A (p.His394Asn) rs201628326
NM_001127500.3(MET):c.1185_1186delinsAT (p.His396Tyr)
NM_001127500.3(MET):c.1200+10A>G rs746880479
NM_001127500.3(MET):c.1220C>T (p.Ser407Leu) rs764580322
NM_001127500.3(MET):c.1222G>A (p.Gly408Ser) rs1289461217
NM_001127500.3(MET):c.1232C>T (p.Ala411Val) rs201154533
NM_001127500.3(MET):c.1234C>T (p.Arg412Cys) rs367628460
NM_001127500.3(MET):c.1238G>A (p.Arg413His) rs375391602
NM_001127500.3(MET):c.1242T>A (p.Asp414Glu) rs1230741853
NM_001127500.3(MET):c.1267G>A (p.Ala423Thr)
NM_001127500.3(MET):c.1279G>A (p.Val427Ile) rs376364468
NM_001127500.3(MET):c.1280T>C (p.Val427Ala) rs773626056
NM_001127500.3(MET):c.1285T>A (p.Leu429Ile) rs911380470
NM_001127500.3(MET):c.128T>C (p.Leu43Pro) rs1487106127
NM_001127500.3(MET):c.1290C>G (p.Phe430Leu)
NM_001127500.3(MET):c.1291A>G (p.Met431Val) rs766929091
NM_001127500.3(MET):c.12C>T (p.Pro4=) rs772251895
NM_001127500.3(MET):c.1306G>A (p.Glu436Lys) rs200740468
NM_001127500.3(MET):c.1309G>A (p.Val437Ile)
NM_001127500.3(MET):c.1312C>G (p.Leu438Val) rs587780733
NM_001127500.3(MET):c.131C>A (p.Pro44His) rs1554378225
NM_001127500.3(MET):c.1320A>G (p.Thr440=) rs763726060
NM_001127500.3(MET):c.1336A>G (p.Ile446Val) rs779022887
NM_001127500.3(MET):c.1343G>A (p.Gly448Glu) rs750256779
NM_001127500.3(MET):c.135C>G (p.Asn45Lys) rs1562883006
NM_001127500.3(MET):c.1361A>T (p.Asn454Ile) rs587780734
NM_001127500.3(MET):c.1363C>T (p.Leu455Phe)
NM_001127500.3(MET):c.1365T>G (p.Leu455=) rs369639118
NM_001127500.3(MET):c.1382G>A (p.Arg461His) rs544274181
NM_001127500.3(MET):c.1388T>G (p.Met463Arg)
NM_001127500.3(MET):c.1392+1G>T
NM_001127500.3(MET):c.1392+5G>C
NM_001127500.3(MET):c.1393-1G>T
NM_001127500.3(MET):c.1393-2A>T
NM_001127500.3(MET):c.1393G>A (p.Val465Ile) rs754969545
NM_001127500.3(MET):c.13G>A (p.Ala5Thr) rs765444467
NM_001127500.3(MET):c.1406G>A (p.Arg469Gln) rs752842662
NM_001127500.3(MET):c.1408T>A (p.Ser470Thr)
NM_001127500.3(MET):c.1412G>A (p.Gly471Glu) rs373312981
NM_001127500.3(MET):c.1414C>T (p.Pro472Ser)
NM_001127500.3(MET):c.141C>G (p.Thr47=) rs864622222
NM_001127500.3(MET):c.1421C>T (p.Thr474Ile) rs1554390902
NM_001127500.3(MET):c.1428T>A (p.His476Gln) rs1432416607
NM_001127500.3(MET):c.142G>A (p.Ala48Thr) rs374050750
NM_001127500.3(MET):c.1430T>A (p.Val477Glu)
NM_001127500.3(MET):c.143C>G (p.Ala48Gly) rs80256822
NM_001127500.3(MET):c.1441C>A (p.Leu481Met) rs1012909374
NM_001127500.3(MET):c.1444G>A (p.Asp482Asn) rs863224694
NM_001127500.3(MET):c.1447T>C (p.Ser483Pro)
NM_001127500.3(MET):c.144G>A (p.Ala48=) rs11762213
NM_001127500.3(MET):c.1451A>G (p.His484Arg) rs781545528
NM_001127500.3(MET):c.145G>A (p.Glu49Lys) rs1060503528
NM_001127500.3(MET):c.146A>G (p.Glu49Gly) rs370499060
NM_001127500.3(MET):c.1472T>C (p.Ile491Thr) rs561588772
NM_001127500.3(MET):c.1477G>C (p.Glu493Gln) rs965319455
NM_001127500.3(MET):c.1484C>A (p.Thr495Lys) rs45585831
NM_001127500.3(MET):c.1484C>G (p.Thr495Arg) rs45585831
NM_001127500.3(MET):c.1485A>G (p.Thr495=) rs760256871
NM_001127500.3(MET):c.1489A>G (p.Asn497Asp) rs766209435
NM_001127500.3(MET):c.1496A>C (p.Asn499Thr) rs1253878709
NM_001127500.3(MET):c.1496A>G (p.Asn499Ser) rs1253878709
NM_001127500.3(MET):c.1508T>A (p.Leu503Gln) rs1562908826
NM_001127500.3(MET):c.1510G>T (p.Val504Phe) rs587780735
NM_001127500.3(MET):c.1513A>T (p.Ile505Phe)
NM_001127500.3(MET):c.1527+1G>A
NM_001127500.3(MET):c.1528-9T>C rs767768257
NM_001127500.3(MET):c.1531A>T (p.Thr511Ser) rs1181927481
NM_001127500.3(MET):c.1538T>A (p.Ile513Asn)
NM_001127500.3(MET):c.1545G>C (p.Leu515Phe) rs1554391227
NM_001127500.3(MET):c.1560C>A (p.Cys520Ter)
NM_001127500.3(MET):c.1571A>T (p.Gln524Leu)
NM_001127500.3(MET):c.1600C>T (p.Pro534Ser) rs200283364
NM_001127500.3(MET):c.1602C>A (p.Pro534=) rs1554391268
NM_001127500.3(MET):c.1617C>T (p.Gly539=) rs776490266
NM_001127500.3(MET):c.1636G>A (p.Val546Met)
NM_001127500.3(MET):c.1640G>A (p.Arg547Gln) rs761951444
NM_001127500.3(MET):c.1641A>C (p.Arg547=) rs1554391313
NM_001127500.3(MET):c.1643C>T (p.Ser548Leu) rs767715328
NM_001127500.3(MET):c.1644G>A (p.Ser548=) rs750584257
NM_001127500.3(MET):c.1660G>A (p.Gly554Arg) rs200218511
NM_001127500.3(MET):c.1663A>G (p.Thr555Ala) rs370883654
NM_001127500.3(MET):c.1665A>G (p.Thr555=) rs1554391336
NM_001127500.3(MET):c.1669A>G (p.Thr557Ala) rs374733251
NM_001127500.3(MET):c.1670C>T (p.Thr557Ile)
NM_001127500.3(MET):c.1676A>G (p.Gln559Arg) rs45460604
NM_001127500.3(MET):c.1693A>G (p.Ile565Val) rs745479104
NM_001127500.3(MET):c.1694T>C (p.Ile565Thr)
NM_001127500.3(MET):c.1701+58dup
NM_001127500.3(MET):c.1701+59G>T
NM_001127500.3(MET):c.1702-3T>C rs754686930
NM_001127500.3(MET):c.1702-8C>T rs1554394916
NM_001127500.3(MET):c.1715G>A (p.Ser572Asn) rs199771406
NM_001127500.3(MET):c.1718C>T (p.Ala573Val) rs1429917144
NM_001127500.3(MET):c.1739G>A (p.Arg580Lys) rs201975130
NM_001127500.3(MET):c.173A>G (p.His58Arg)
NM_001127500.3(MET):c.1741C>T (p.Leu581=)
NM_001127500.3(MET):c.1758G>T (p.Trp586Cys) rs1562920414
NM_001127500.3(MET):c.176A>G (p.Glu59Gly) rs1554378297
NM_001127500.3(MET):c.1770T>G (p.Phe590Leu) rs199542598
NM_001127500.3(MET):c.1771C>T (p.Arg591Trp) rs45602940
NM_001127500.3(MET):c.1772G>A (p.Arg591Gln) rs775965879
NM_001127500.3(MET):c.1786T>A (p.Phe596Ile) rs879254332
NM_001127500.3(MET):c.1801A>G (p.Thr601Ala) rs1216005099
NM_001127500.3(MET):c.180T>A (p.His60Gln) rs745740862
NM_001127500.3(MET):c.1810C>G (p.Leu604Val) rs201861645
NM_001127500.3(MET):c.1812C>T (p.Leu604=) rs1412870024
NM_001127500.3(MET):c.1812_1814del (p.Leu605del) rs1060503535
NM_001127500.3(MET):c.1826G>A (p.Ser609Asn) rs1554394973
NM_001127500.3(MET):c.1853C>T (p.Thr618Met) rs753407699
NM_001127500.3(MET):c.1858A>G (p.Asn620Asp) rs372116735
NM_001127500.3(MET):c.1862C>T (p.Thr621Ile) rs375951814
NM_001127500.3(MET):c.1863-2A>G
NM_001127500.3(MET):c.1863-3C>T
NM_001127500.3(MET):c.1863-5dup rs766900241
NM_001127500.3(MET):c.1866G>C (p.Leu622Phe) rs1562921668
NM_001127500.3(MET):c.1881T>G (p.Gly627=) rs200050499
NM_001127500.3(MET):c.1898A>G (p.His633Arg) rs45586239
NM_001127500.3(MET):c.1898A>T (p.His633Leu) rs45586239
NM_001127500.3(MET):c.1904A>G (p.Asn635Ser) rs773826297
NM_001127500.3(MET):c.1912A>G (p.Ile638Val) rs1060503536
NM_001127500.3(MET):c.1912A>T (p.Ile638Leu)
NM_001127500.3(MET):c.1913T>C (p.Ile638Thr) rs1554395371
NM_001127500.3(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_001127500.3(MET):c.1937C>A (p.Thr646Lys) rs751307227
NM_001127500.3(MET):c.1944A>G (p.Gln648=) rs13223756
NM_001127500.3(MET):c.1961A>G (p.Tyr654Cys) rs1554395399
NM_001127500.3(MET):c.1965+11T>G rs780230492
NM_001127500.3(MET):c.1965+14T>C rs543293293
NM_001127500.3(MET):c.1972G>A (p.Val658Ile) rs587778446
NM_001127500.3(MET):c.1973T>C (p.Val658Ala)
NM_001127500.3(MET):c.1975A>T (p.Ile659Leu) rs753958204
NM_001127500.3(MET):c.1984A>G (p.Ile662Val) rs765244598
NM_001127500.3(MET):c.1988C>T (p.Ser663Leu) rs376459715
NM_001127500.3(MET):c.1992G>A (p.Pro664=) rs373842614
NM_001127500.3(MET):c.199A>T (p.Thr67Ser) rs202047059
NM_001127500.3(MET):c.2005A>G (p.Met669Val)
NM_001127500.3(MET):c.2059T>C (p.Ser687Pro) rs1562922167
NM_001127500.3(MET):c.2062A>G (p.Arg688Gly)
NM_001127500.3(MET):c.2073A>G (p.Ser691=) rs765318603
NM_001127500.3(MET):c.2081G>A (p.Gly694Glu)
NM_001127500.3(MET):c.2102+4T>C
NM_001127500.3(MET):c.2102+7T>C
NM_001127500.3(MET):c.2103-1G>T rs1336351205
NM_001127500.3(MET):c.2103-2A>T
NM_001127500.3(MET):c.2103-3C>T rs1431679847
NM_001127500.3(MET):c.2103-4T>C rs753740913
NM_001127500.3(MET):c.2110A>G (p.Asn704Asp) rs373030463
NM_001127500.3(MET):c.2126G>A (p.Cys709Tyr) rs1554395668
NM_001127500.3(MET):c.212A>G (p.Tyr71Cys) rs1260635670
NM_001127500.3(MET):c.2144C>A (p.Thr715Asn) rs1554395680
NM_001127500.3(MET):c.215T>C (p.Val72Ala) rs973796037
NM_001127500.3(MET):c.2168A>C (p.Lys723Thr) rs1554395688
NM_001127500.3(MET):c.2191C>T (p.Arg731Ter) rs377336878
NM_001127500.3(MET):c.2192G>A (p.Arg731Gln) rs45446492
NM_001127500.3(MET):c.2203A>G (p.Ile735Val)
NM_001127500.3(MET):c.2210G>A (p.Ser737Asn) rs879254333
NM_001127500.3(MET):c.2215C>G (p.Arg739Gly) rs45587940
NM_001127500.3(MET):c.2216G>A (p.Arg739His) rs45553236
NM_001127500.3(MET):c.2220A>G (p.Glu740=) rs1554395720
NM_001127500.3(MET):c.2232C>G (p.Val744=) rs1060504944
NM_001127500.3(MET):c.2245C>G (p.Pro749Ala)
NM_001127500.3(MET):c.2248A>G (p.Thr750Ala) rs1060503531
NM_001127500.3(MET):c.2260A>G (p.Ile754Val) rs1060503539
NM_001127500.3(MET):c.2265-3C>T rs1562923455
NM_001127500.3(MET):c.2271G>T (p.Trp757Cys) rs587780540
NM_001127500.3(MET):c.2273G>T (p.Trp758Leu)
NM_001127500.3(MET):c.2278G>A (p.Glu760Lys) rs1554395868
NM_001127500.3(MET):c.2288A>G (p.Asn763Ser) rs370237186
NM_001127500.3(MET):c.2296A>G (p.Ser766Gly) rs750004615
NM_001127500.3(MET):c.22G>A (p.Ala8Thr) rs758564871
NM_001127500.3(MET):c.2304A>C (p.Leu768=) rs201304108
NM_001127500.3(MET):c.2317A>G (p.Ser773Gly)
NM_001127500.3(MET):c.2332A>G (p.Ile778Val) rs786202191
NM_001127500.3(MET):c.2339G>C (p.Gly780Ala) rs1060503541
NM_001127500.3(MET):c.2347A>G (p.Lys783Glu) rs1554395889
NM_001127500.3(MET):c.236A>G (p.Gln79Arg) rs1562883214
NM_001127500.3(MET):c.2372C>T (p.Pro791Leu) rs771333219
NM_001127500.3(MET):c.2379G>T (p.Met793Ile) rs748086754
NM_001127500.3(MET):c.2380G>C (p.Val794Leu) rs771976817
NM_001127500.3(MET):c.2389G>A (p.Val797Met) rs1562923583
NM_001127500.3(MET):c.2391G>A (p.Val797=) rs863224377
NM_001127500.3(MET):c.2396A>C (p.Glu799Ala)
NM_001127500.3(MET):c.2398G>A (p.Ala800Thr) rs1262601648
NM_001127500.3(MET):c.2401G>C (p.Gly801Arg) rs879254334
NM_001127500.3(MET):c.2413A>G (p.Thr805Ala)
NM_001127500.3(MET):c.2416G>A (p.Val806Met) rs1489302008
NM_001127500.3(MET):c.2417T>C (p.Val806Ala) rs786204142
NM_001127500.3(MET):c.2419-14G>T rs769247886
NM_001127500.3(MET):c.2419-21G>C
NM_001127500.3(MET):c.241G>T (p.Val81Phe)
NM_001127500.3(MET):c.2427A>T (p.Gln809His)
NM_001127500.3(MET):c.2429A>G (p.His810Arg) rs980467681
NM_001127500.3(MET):c.2431C>T (p.Arg811Cys)
NM_001127500.3(MET):c.2432G>A (p.Arg811His) rs199643166
NM_001127500.3(MET):c.2432G>T (p.Arg811Leu) rs199643166
NM_001127500.3(MET):c.2435C>G (p.Ser812Cys) rs371939364
NM_001127500.3(MET):c.2437A>G (p.Asn813Asp) rs200633053
NM_001127500.3(MET):c.2443G>A (p.Glu815Lys)
NM_001127500.3(MET):c.2447T>G (p.Ile816Arg) rs764960693
NM_001127500.3(MET):c.2453G>T (p.Cys818Phe)
NM_001127500.3(MET):c.245C>T (p.Ala82Val)
NM_001127500.3(MET):c.2468C>T (p.Ser823Phe) rs1410859976
NM_001127500.3(MET):c.2486T>A (p.Leu829Gln) rs1554396554
NM_001127500.3(MET):c.2486T>C (p.Leu829Pro)
NM_001127500.3(MET):c.2495C>T (p.Pro832Leu) rs781452657
NM_001127500.3(MET):c.2509G>A (p.Ala837Thr) rs786203672
NM_001127500.3(MET):c.2518A>G (p.Met840Val)
NM_001127500.3(MET):c.2519T>C (p.Met840Thr) rs1562925631
NM_001127500.3(MET):c.2520G>A (p.Met840Ile) rs780538636
NM_001127500.3(MET):c.2525A>G (p.Asp842Gly) rs1446482547
NM_001127500.3(MET):c.2526T>G (p.Asp842Glu) rs1463527073
NM_001127500.3(MET):c.252C>T (p.Tyr84=)
NM_001127500.3(MET):c.2581C>G (p.Pro861Ala) rs905891313
NM_001127500.3(MET):c.2582C>T (p.Pro861Leu) rs762228405
NM_001127500.3(MET):c.2592G>C (p.Lys864Asn) rs1562925732
NM_001127500.3(MET):c.2593C>T (p.Pro865Ser) rs1562925733
NM_001127500.3(MET):c.2597T>C (p.Val866Ala) rs587782205
NM_001127500.3(MET):c.2599A>G (p.Met867Val)
NM_001127500.3(MET):c.2602A>G (p.Ile868Val) rs200524064
NM_001127500.3(MET):c.2608A>G (p.Met870Val) rs762863861
NM_001127500.3(MET):c.2609T>A (p.Met870Lys) rs369758288
NM_001127500.3(MET):c.2622T>G (p.Asn874Lys) rs118057172
NM_001127500.3(MET):c.262C>G (p.Pro88Ala) rs1169278904
NM_001127500.3(MET):c.2638-1G>T
NM_001127500.3(MET):c.2638-3C>T rs1337305891
NM_001127500.3(MET):c.2638-7del rs587780736
NM_001127500.3(MET):c.2638-8C>G rs370833501
NM_001127500.3(MET):c.2638-9del
NM_001127500.3(MET):c.265G>A (p.Val89Met) rs1060503544
NM_001127500.3(MET):c.2667A>C (p.Lys889Asn) rs1385709850
NM_001127500.3(MET):c.269T>C (p.Leu90Pro)
NM_001127500.3(MET):c.2707A>G (p.Ile903Val)
NM_001127500.3(MET):c.2726C>G (p.Ala909Gly) rs1562929174
NM_001127500.3(MET):c.2728G>A (p.Val910Ile) rs761243391
NM_001127500.3(MET):c.2731T>A (p.Leu911Ile) rs376104371
NM_001127500.3(MET):c.2738C>T (p.Thr913Met) rs199502137
NM_001127500.3(MET):c.2739G>A (p.Thr913=) rs760722037
NM_001127500.3(MET):c.2747A>G (p.Asn916Ser) rs766430458
NM_001127500.3(MET):c.2764A>T (p.Asn922Tyr) rs1313347428
NM_001127500.3(MET):c.2769C>T (p.Ser923=) rs45572835
NM_001127500.3(MET):c.2770G>A (p.Glu924Lys) rs778115147
NM_001127500.3(MET):c.2772G>A (p.Glu924=) rs752013993
NM_001127500.3(MET):c.2777A>G (p.Asn926Ser) rs1478309975
NM_001127500.3(MET):c.2785-10T>C
NM_001127500.3(MET):c.278C>G (p.Pro93Arg) rs1306740707
NM_001127500.3(MET):c.278C>T (p.Pro93Leu) rs1306740707
NM_001127500.3(MET):c.2799T>G (p.Ile933Met) rs1554398244
NM_001127500.3(MET):c.2801C>T (p.Ser934Phe) rs1288860579
NM_001127500.3(MET):c.2809G>A (p.Val937Ile) rs759522148
NM_001127500.3(MET):c.280G>A (p.Asp94Asn) rs899151863
NM_001127500.3(MET):c.280G>C (p.Asp94His) rs899151863
NM_001127500.3(MET):c.280G>T (p.Asp94Tyr) rs899151863
NM_001127500.3(MET):c.2814T>C (p.Leu938=) rs1554398258
NM_001127500.3(MET):c.2823A>C (p.Val941=) rs371015065
NM_001127500.3(MET):c.2824A>G (p.Ile942Val)
NM_001127500.3(MET):c.2828T>C (p.Val943Ala) rs922442405
NM_001127500.3(MET):c.2841G>C (p.Gln947His) rs908653562
NM_001127500.3(MET):c.2845T>A (p.Phe949Ile) rs1562930067
NM_001127500.3(MET):c.2867T>C (p.Val956Ala) rs1554398288
NM_001127500.3(MET):c.2879C>T (p.Ser960Leu) rs375576430
NM_001127500.3(MET):c.289C>G (p.Pro97Ala) rs199736573
NM_001127500.3(MET):c.2918T>A (p.Leu973Gln) rs879254335
NM_001127500.3(MET):c.2941+5A>T rs752292538
NM_001127500.3(MET):c.2941+6T>C
NM_001127500.3(MET):c.2942-6T>G rs1562930263
NM_001127500.3(MET):c.2942A>G (p.Asp981Gly) rs1554398360
NM_001127500.3(MET):c.2946G>A (p.Leu982=)
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127500.3(MET):c.2963G>A (p.Arg988His) rs45607832
NM_001127500.3(MET):c.2968G>A (p.Asp990Asn)
NM_001127500.3(MET):c.2971G>A (p.Ala991Thr)
NM_001127500.3(MET):c.297G>A (p.Gln99=)
NM_001127500.3(MET):c.2983A>G (p.Thr995Ala) rs1554398378
NM_001127500.3(MET):c.2987C>T (p.Pro996Leu) rs1060503540
NM_001127500.3(MET):c.3000G>C (p.Arg1000Ser) rs1554398390
NM_001127500.3(MET):c.3013C>T (p.Arg1005Ter) rs1554398397
NM_001127500.3(MET):c.3025C>T (p.Pro1009Ser) rs768678989
NM_001127500.3(MET):c.3028A>G (p.Thr1010Ala) rs774433287
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127500.3(MET):c.3031A>G (p.Thr1011Ala) rs587778441
NM_001127500.3(MET):c.3041T>C (p.Val1014Ala) rs1554398418
NM_001127500.3(MET):c.3049G>C (p.Glu1017Gln) rs1404824650
NM_001127500.3(MET):c.3050A>T (p.Glu1017Val)
NM_001127500.3(MET):c.305G>A (p.Ser102Asn) rs779897466
NM_001127500.3(MET):c.306C>G (p.Ser102Arg) rs749383450
NM_001127500.3(MET):c.3084T>A (p.Asp1028Glu) rs565938550
NM_001127500.3(MET):c.3085C>G (p.Gln1029Glu)
NM_001127500.3(MET):c.3088T>C (p.Phe1030Leu)
NM_001127500.3(MET):c.308G>A (p.Ser103Asn)
NM_001127500.3(MET):c.3097T>G (p.Ser1033Ala) rs539345989
NM_001127500.3(MET):c.3109G>A (p.Gly1037Ser)
NM_001127500.3(MET):c.3119G>T (p.Arg1040Leu) rs45612435
NM_001127500.3(MET):c.312A>T (p.Lys104Asn) rs1554378412
NM_001127500.3(MET):c.3145A>G (p.Met1049Val)
NM_001127500.3(MET):c.3161C>T (p.Thr1054Ile) rs758440368
NM_001127500.3(MET):c.3169G>A (p.Asp1057Asn) rs777748634
NM_001127500.3(MET):c.3172T>C (p.Ser1058Pro) rs771328219
NM_001127500.3(MET):c.3180A>G (p.Ile1060Met)
NM_001127500.3(MET):c.3188C>G (p.Pro1063Arg) rs1554398862
NM_001127500.3(MET):c.31A>G (p.Ile11Val)
NM_001127500.3(MET):c.3203C>A (p.Thr1068Asn)
NM_001127500.3(MET):c.3217C>A (p.Leu1073Ile) rs1060503534
NM_001127500.3(MET):c.3246G>C (p.Gln1082His) rs974352099
NM_001127500.3(MET):c.3254A>T (p.Gln1085Leu) rs1554398900
NM_001127500.3(MET):c.3258T>A (p.His1086Gln) rs1397743069
NM_001127500.3(MET):c.3262G>A (p.Val1088Met) rs760285693
NM_001127500.3(MET):c.3272C>T (p.Pro1091Leu) rs370529693
NM_001127500.3(MET):c.3275G>A (p.Ser1092Asn) rs752641437
NM_001127500.3(MET):c.3285T>A (p.Ile1095=) rs1251215478
NM_001127500.3(MET):c.3290A>G (p.His1097Arg) rs758292223
NM_001127500.3(MET):c.3296A>G (p.Asn1099Ser) rs764213589
NM_001127500.3(MET):c.3308G>A (p.Gly1103Glu) rs1562931818
NM_001127500.3(MET):c.3317A>G (p.His1106Arg) rs786204102
NM_001127500.3(MET):c.331G>A (p.Val111Ile)
NM_001127500.3(MET):c.3325T>C (p.Cys1109Arg) rs751556706
NM_001127500.3(MET):c.3328G>A (p.Val1110Ile) rs786202724
NM_001127500.3(MET):c.3335A>G (p.His1112Arg) rs121913243
NM_001127500.3(MET):c.3341C>T (p.Thr1114Ile)
NM_001127500.3(MET):c.3350A>G (p.Asp1117Gly) rs780431412
NM_001127500.3(MET):c.3354T>C (p.Asn1118=) rs1554399341
NM_001127500.3(MET):c.3359G>A (p.Gly1120Asp) rs1060503533
NM_001127500.3(MET):c.3394+2dup rs1554399352
NM_001127500.3(MET):c.3399C>T (p.Ile1133=) rs1554399534
NM_001127500.3(MET):c.3406A>G (p.Ile1136Val) rs755234697
NM_001127500.3(MET):c.3410G>C (p.Gly1137Ala) rs201037977
NM_001127500.3(MET):c.341A>T (p.Asp114Val) rs773659883
NM_001127500.3(MET):c.3431C>A (p.Thr1144Asn) rs367634278
NM_001127500.3(MET):c.3446T>C (p.Met1149Thr) rs121913668
NM_001127500.3(MET):c.3451G>A (p.Asp1151Asn) rs745437003
NM_001127500.3(MET):c.3459T>G (p.Ser1153Arg) rs1554399556
NM_001127500.3(MET):c.346A>G (p.Ile116Val) rs1554378434
NM_001127500.3(MET):c.3476C>T (p.Ser1159Leu)
NM_001127500.3(MET):c.3496C>T (p.Arg1166Ter) rs879254336
NM_001127500.3(MET):c.3497G>A (p.Arg1166Gln) rs761808213
NM_001127500.3(MET):c.352A>G (p.Met118Val) rs1060503538
NM_001127500.3(MET):c.3542G>A (p.Gly1181Glu) rs879254338
NM_001127500.3(MET):c.3543A>T (p.Gly1181=) rs753101831
NM_001127500.3(MET):c.354G>A (p.Met118Ile) rs1562883374
NM_001127500.3(MET):c.3563G>A (p.Arg1188Gln) rs369838973
NM_001127500.3(MET):c.356C>T (p.Ala119Val) rs904162290
NM_001127500.3(MET):c.3571A>G (p.Thr1191Ala)
NM_001127500.3(MET):c.3576+12G>T rs200624981
NM_001127500.3(MET):c.3577-12C>G rs186524917
NM_001127500.3(MET):c.3577-6C>T rs1554400069
NM_001127500.3(MET):c.3578A>C (p.Asn1193Thr) rs1554400071
NM_001127500.3(MET):c.3586G>A (p.Val1196Ile)
NM_001127500.3(MET):c.3616G>A (p.Val1206Ile) rs121913669
NM_001127500.3(MET):c.3616G>T (p.Val1206Leu) rs121913669
NM_001127500.3(MET):c.3617_3618del (p.Val1206fs) rs1562935204
NM_001127500.3(MET):c.362T>C (p.Val121Ala) rs879254339
NM_001127500.3(MET):c.3637C>G (p.Leu1213Val) rs121913673
NM_001127500.3(MET):c.3637C>T (p.Leu1213Phe) rs121913673
NM_001127500.3(MET):c.3655G>A (p.Val1219Ile) rs778646229
NM_001127500.3(MET):c.3686+42C>G
NM_001127500.3(MET):c.3687-2A>G rs879254337
NM_001127500.3(MET):c.3694G>A (p.Glu1232Lys)
NM_001127500.3(MET):c.36C>A (p.Leu12=)
NM_001127500.3(MET):c.36C>T (p.Leu12=) rs188625702
NM_001127500.3(MET):c.3702C>A (p.Phe1234Leu)
NM_001127500.3(MET):c.3712G>A (p.Val1238Ile) rs121913670
NM_001127500.3(MET):c.3736G>A (p.Asp1246Asn) rs121913671
NM_001127500.3(MET):c.3743A>G (p.Tyr1248Cys) rs121913246
NM_001127500.3(MET):c.3767A>T (p.His1256Leu) rs1562935856
NM_001127500.3(MET):c.3793G>A (p.Val1265Met) rs1562935903
NM_001127500.3(MET):c.379G>C (p.Asp127His)
NM_001127500.3(MET):c.37G>A (p.Val13Met) rs781777052
NM_001127500.3(MET):c.383A>G (p.Asp128Gly) rs1554378477
NM_001127500.3(MET):c.3852+5T>C rs368150874
NM_001127500.3(MET):c.3864C>T (p.Gly1288=) rs200865810
NM_001127500.3(MET):c.3865G>A (p.Val1289Met) rs751186512
NM_001127500.3(MET):c.3870C>A (p.Leu1290=) rs757012119
NM_001127500.3(MET):c.390C>T (p.Leu130=) rs150588908
NM_001127500.3(MET):c.3912C>T (p.Asp1304=) rs41736
NM_001127500.3(MET):c.3919A>T (p.Thr1307Ser)
NM_001127500.3(MET):c.3921C>T (p.Thr1307=) rs587780532
NM_001127500.3(MET):c.3924T>C (p.Phe1308=) rs926365001
NM_001127500.3(MET):c.3930A>G (p.Ile1310Met) rs786204044
NM_001127500.3(MET):c.3932C>G (p.Thr1311Ser) rs779121848
NM_001127500.3(MET):c.3989+2T>A rs1562941469
NM_001127500.3(MET):c.3989+3A>G rs1554402183
NM_001127500.3(MET):c.4004T>A (p.Leu1335Gln) rs1159812687
NM_001127500.3(MET):c.400G>A (p.Gly134Ser)
NM_001127500.3(MET):c.4027G>A (p.Glu1343Lys) rs587778444
NM_001127500.3(MET):c.4045T>G (p.Ser1349Ala) rs1562941559
NM_001127500.3(MET):c.4051C>G (p.Leu1351Val) rs758738756
NM_001127500.3(MET):c.4061G>A (p.Arg1354Gln) rs369312680
NM_001127500.3(MET):c.4065A>G (p.Ile1355Met) rs376418811
NM_001127500.3(MET):c.406G>A (p.Val136Ile) rs199701987
NM_001127500.3(MET):c.4070C>T (p.Ala1357Val) rs1453842331
NM_001127500.3(MET):c.4071G>A (p.Ala1357=) rs2023748
NM_001127500.3(MET):c.4072A>G (p.Ile1358Val) rs1060503543
NM_001127500.3(MET):c.4088T>C (p.Ile1363Thr) rs768188910
NM_001127500.3(MET):c.4095G>T (p.Glu1365Asp) rs1562941622
NM_001127500.3(MET):c.4096C>A (p.His1366Asn) rs773772398
NM_001127500.3(MET):c.40C>T (p.Leu14Phe) rs763344951
NM_001127500.3(MET):c.410A>G (p.Asn137Ser)
NM_001127500.3(MET):c.4111A>G (p.Asn1371Asp) rs374383028
NM_001127500.3(MET):c.4114G>A (p.Ala1372Thr) rs761522694
NM_001127500.3(MET):c.4128C>T (p.Asn1376=) rs772860611
NM_001127500.3(MET):c.4129G>A (p.Val1377Ile) rs752669237
NM_001127500.3(MET):c.4136G>A (p.Cys1379Tyr) rs766190061
NM_001127500.3(MET):c.4141G>A (p.Ala1381Thr) rs45578433
NM_001127500.3(MET):c.4144C>T (p.Pro1382Ser) rs765332671
NM_001127500.3(MET):c.4145C>T (p.Pro1382Leu) rs752791731
NM_001127500.3(MET):c.4146G>A (p.Pro1382=) rs41737
NM_001127500.3(MET):c.4154C>G (p.Ser1385Cys) rs747239403
NM_001127500.3(MET):c.4169A>C (p.Glu1390Ala)
NM_001127500.3(MET):c.4172A>G (p.Asp1391Gly)
NM_001127500.3(MET):c.4194C>A (p.Asp1398Glu)
NM_001127500.3(MET):c.4195A>G (p.Thr1399Ala) rs1292389793
NM_001127500.3(MET):c.4198C>T (p.Arg1400Ter) rs200315561
NM_001127500.3(MET):c.4199G>A (p.Arg1400Gln) rs752694306
NM_001127500.3(MET):c.4199G>C (p.Arg1400Pro) rs752694306
NM_001127500.3(MET):c.4204G>A (p.Ala1402Thr) rs758486336
NM_001127500.3(MET):c.4205C>G (p.Ala1402Gly) rs202166889
NM_001127500.3(MET):c.424C>G (p.Gln142Glu) rs1554378495
NM_001127500.3(MET):c.425A>G (p.Gln142Arg) rs768640780
NM_001127500.3(MET):c.427C>T (p.Arg143Ter) rs779093896
NM_001127500.3(MET):c.428G>A (p.Arg143Gln) rs35469582
NM_001127500.3(MET):c.433G>A (p.Val145Ile) rs1410705895
NM_001127500.3(MET):c.465G>T (p.Gln155His) rs863224695
NM_001127500.3(MET):c.467C>T (p.Ser156Leu) rs56311081
NM_001127500.3(MET):c.477C>A (p.His159Gln)
NM_001127500.3(MET):c.482T>C (p.Ile161Thr) rs1060503532
NM_001127500.3(MET):c.490C>G (p.Pro164Ala) rs765759353
NM_001127500.3(MET):c.491C>T (p.Pro164Leu) rs1562883575
NM_001127500.3(MET):c.495G>C (p.Gln165His) rs1060503537
NM_001127500.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_001127500.3(MET):c.508A>C (p.Ser170Arg)
NM_001127500.3(MET):c.50C>T (p.Thr17Ile)
NM_001127500.3(MET):c.510C>G (p.Ser170Arg) rs587778442
NM_001127500.3(MET):c.522C>G (p.Asp174Glu) rs863224696
NM_001127500.3(MET):c.534C>T (p.Ser178=) rs35775721
NM_001127500.3(MET):c.535G>T (p.Ala179Ser) rs753697730
NM_001127500.3(MET):c.538C>G (p.Leu180Val)
NM_001127500.3(MET):c.553C>A (p.Leu185Ile) rs376097698
NM_001127500.3(MET):c.553C>G (p.Leu185Val) rs376097698
NM_001127500.3(MET):c.569A>G (p.Asp190Gly) rs1028165414
NM_001127500.3(MET):c.571C>G (p.Arg191Gly)
NM_001127500.3(MET):c.571C>T (p.Arg191Trp) rs530932258
NM_001127500.3(MET):c.572G>A (p.Arg191Gln) rs879254342
NM_001127500.3(MET):c.581A>C (p.Asn194Thr) rs370170168
NM_001127500.3(MET):c.599C>A (p.Thr200Asn) rs786202727
NM_001127500.3(MET):c.629del (p.Pro210fs) rs1554378645
NM_001127500.3(MET):c.632T>G (p.Leu211Trp) rs45483396
NM_001127500.3(MET):c.639G>A (p.Ser213=) rs587780738
NM_001127500.3(MET):c.640A>G (p.Ile214Val) rs786203065
NM_001127500.3(MET):c.647T>C (p.Val216Ala)
NM_001127500.3(MET):c.65G>T (p.Ser22Ile) rs587780739
NM_001127500.3(MET):c.665C>T (p.Thr222Met) rs200776610
NM_001127500.3(MET):c.669A>G (p.Lys223=) rs863224380
NM_001127500.3(MET):c.670G>T (p.Asp224Tyr) rs765257726
NM_001127500.3(MET):c.682T>C (p.Phe228Leu) rs921083171
NM_001127500.3(MET):c.689C>T (p.Thr230Met) rs587780740
NM_001127500.3(MET):c.690G>T (p.Thr230=) rs200138253
NM_001127500.3(MET):c.704T>C (p.Ile235Thr) rs1060503530
NM_001127500.3(MET):c.709G>A (p.Val237Ile) rs757402499
NM_001127500.3(MET):c.71G>A (p.Gly24Glu) rs180985111
NM_001127500.3(MET):c.724A>G (p.Arg242Gly)
NM_001127500.3(MET):c.728A>G (p.Asp243Gly) rs1562883992
NM_001127500.3(MET):c.738dup (p.Ile247fs)
NM_001127500.3(MET):c.739A>G (p.Ile247Val) rs749728359
NM_001127500.3(MET):c.743A>T (p.Lys248Met) rs769181927
NM_001127500.3(MET):c.744G>T (p.Lys248Asn) rs1562884016
NM_001127500.3(MET):c.762A>C (p.Glu254Asp) rs760278126
NM_001127500.3(MET):c.769A>G (p.Asn257Asp)
NM_001127500.3(MET):c.776T>C (p.Ile259Thr) rs587780548
NM_001127500.3(MET):c.781T>C (p.Phe261Leu) rs765061513
NM_001127500.3(MET):c.788C>T (p.Thr263Met) rs764052874
NM_001127500.3(MET):c.789G>A (p.Thr263=) rs554190225
NM_001127500.3(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_001127500.3(MET):c.800A>G (p.Glu267Gly)
NM_001127500.3(MET):c.803C>T (p.Thr268Ile) rs757427533
NM_001127500.3(MET):c.805C>G (p.Leu269Val) rs781257386
NM_001127500.3(MET):c.808G>C (p.Asp270His) rs1060503542
NM_001127500.3(MET):c.80A>G (p.Lys27Arg) rs555920594
NM_001127500.3(MET):c.813T>C (p.Ala271=) rs750586651
NM_001127500.3(MET):c.818C>A (p.Thr273Asn) rs368144654
NM_001127500.3(MET):c.818C>G (p.Thr273Ser) rs368144654
NM_001127500.3(MET):c.82G>A (p.Glu28Lys) rs1562882876
NM_001127500.3(MET):c.845G>C (p.Cys282Ser) rs879254343
NM_001127500.3(MET):c.850A>G (p.Ile284Val) rs776014448
NM_001127500.3(MET):c.852A>G (p.Ile284Met) rs759227622
NM_001127500.3(MET):c.866A>G (p.His289Arg)
NM_001127500.3(MET):c.901A>G (p.Thr301Ala) rs201687037
NM_001127500.3(MET):c.912A>G (p.Arg304=) rs762885066
NM_001127500.3(MET):c.917_919del (p.Lys306del)
NM_001127500.3(MET):c.925A>C (p.Thr309Pro) rs35601148
NM_001127500.3(MET):c.938T>C (p.Val313Ala) rs1562884246
NM_001127500.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_001127500.3(MET):c.949C>A (p.Leu317Ile) rs750531377
NM_001127500.3(MET):c.955G>T (p.Ala319Ser) rs545332056
NM_001127500.3(MET):c.959C>T (p.Ala320Val) rs35776110
NM_001127500.3(MET):c.965T>C (p.Val322Ala)
NM_001127500.3(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_001127500.3(MET):c.974C>T (p.Pro325Leu) rs780802614
NM_001127500.3(MET):c.983A>G (p.Gln328Arg) rs1165913241
NM_001127500.3(MET):c.995A>G (p.Gln332Arg) rs1060503529
NM_001304718.2(PTEN):c.-363C>G rs121909224
NM_001354723.2(VHL):c.*27T>A rs121913346
NM_001904.4(CTNNB1):c.1374A>C (p.Glu458Asp) rs1553631848
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) rs1057519914
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) rs786205165
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004958.4(MTOR):c.4449C>G (p.Cys1483Trp) rs1057519913
NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr) rs1057519917
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe) rs1057519916
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)
NM_005614.4(RHEB):c.103T>A (p.Tyr35Asn) rs1057519949
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys) rs1057519950
NM_005648.4(ELOC):c.235T>A (p.Tyr79Asn) rs1057519974
NM_005648.4(ELOC):c.236A>C (p.Tyr79Ser) rs1057519973
NM_005648.4(ELOC):c.236A>T (p.Tyr79Phe) rs1057519973
NM_006164.5(NFE2L2):c.85G>A (p.Asp29Asn) rs1057519920
NM_006164.5(NFE2L2):c.85G>C (p.Asp29His) rs1057519920
NM_006164.5(NFE2L2):c.85G>T (p.Asp29Tyr) rs1057519920
NM_006164.5(NFE2L2):c.86A>G (p.Asp29Gly) rs1057519921
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_012433.3(SF3B1):c.2225G>A (p.Gly742Asp) rs755415626

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