ClinVar Miner

List of variants in gene ATM reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2560
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HGVS dbSNP
NM_000051.3(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.3(ATM):c.1004G>A (p.Gly335Glu) rs1440510829
NM_000051.3(ATM):c.1006T>C (p.Phe336Leu) rs1555068485
NM_000051.3(ATM):c.1008T>G (p.Phe336Leu) rs1555068492
NM_000051.3(ATM):c.1009C>A (p.Arg337Ser) rs138398778
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.100A>G (p.Ile34Val) rs1555054094
NM_000051.3(ATM):c.1015A>G (p.Ile339Val) rs876659567
NM_000051.3(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.3(ATM):c.1019C>A (p.Ala340Asp) rs730881387
NM_000051.3(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.3(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.3(ATM):c.1021G>A (p.Val341Ile) rs200601781
NM_000051.3(ATM):c.1025A>C (p.Lys342Thr) rs1064794119
NM_000051.3(ATM):c.1025A>G (p.Lys342Arg) rs1064794119
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1030A>T (p.Asn344Tyr) rs587782526
NM_000051.3(ATM):c.1038T>A (p.Ile346=) rs749950833
NM_000051.3(ATM):c.1038T>G (p.Ile346Met) rs749950833
NM_000051.3(ATM):c.1039_1040delinsTT (p.Glu347Leu) rs1555068567
NM_000051.3(ATM):c.103C>A (p.Arg35=) rs55861249
NM_000051.3(ATM):c.1044G>A (p.Leu348=) rs879254039
NM_000051.3(ATM):c.1044G>T (p.Leu348Phe) rs879254039
NM_000051.3(ATM):c.1047G>A (p.Met349Ile) rs768480943
NM_000051.3(ATM):c.1048G>A (p.Ala350Thr) rs371713984
NM_000051.3(ATM):c.104G>A (p.Arg35Gln) rs876659324
NM_000051.3(ATM):c.1051G>A (p.Asp351Asn) rs876659092
NM_000051.3(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.3(ATM):c.1055T>C (p.Ile352Thr) rs369203092
NM_000051.3(ATM):c.105A>C (p.Arg35=) rs1060504270
NM_000051.3(ATM):c.1063C>T (p.Gln355Ter) rs1555068615
NM_000051.3(ATM):c.1065+3A>G rs1282724169
NM_000051.3(ATM):c.1065+5A>T rs1204741025
NM_000051.3(ATM):c.1066-1G>A rs876660038
NM_000051.3(ATM):c.1066-3_1072del rs1591517089
NM_000051.3(ATM):c.1071T>C (p.Phe357=) rs1057521608
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1076A>G (p.Glu359Gly) rs1555069537
NM_000051.3(ATM):c.1079A>G (p.Asp360Gly) rs775767808
NM_000051.3(ATM):c.1079A>T (p.Asp360Val) rs775767808
NM_000051.3(ATM):c.107A>G (p.Asp36Gly) rs1488019755
NM_000051.3(ATM):c.1080T>G (p.Asp360Glu) rs199869975
NM_000051.3(ATM):c.1083C>T (p.Thr361=) rs1555069552
NM_000051.3(ATM):c.1089C>T (p.Ser363=) rs1555069567
NM_000051.3(ATM):c.1091T>C (p.Leu364Ser) rs1555069575
NM_000051.3(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.3(ATM):c.10G>A (p.Val4Ile) rs1438588853
NM_000051.3(ATM):c.10G>T (p.Val4Leu) rs1438588853
NM_000051.3(ATM):c.1104A>G (p.Gln368=) rs560691658
NM_000051.3(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.3(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.3(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.3(ATM):c.1110C>T (p.Tyr370=) rs376170600
NM_000051.3(ATM):c.1111A>G (p.Thr371Ala) rs1565378985
NM_000051.3(ATM):c.1112C>T (p.Thr371Ile) rs879254289
NM_000051.3(ATM):c.1118C>G (p.Thr373Arg) rs876659275
NM_000051.3(ATM):c.1119A>T (p.Thr373=) rs754889105
NM_000051.3(ATM):c.1121A>G (p.Gln374Arg) rs1555069640
NM_000051.3(ATM):c.1122A>G (p.Gln374=) rs1264315069
NM_000051.3(ATM):c.1129T>C (p.Ser377Pro) rs876660620
NM_000051.3(ATM):c.1130C>G (p.Ser377Cys) rs1555069665
NM_000051.3(ATM):c.1132A>G (p.Ser378Gly) rs587779811
NM_000051.3(ATM):c.1138T>A (p.Tyr380Asn) rs34083085
NM_000051.3(ATM):c.1139A>G (p.Tyr380Cys) rs786203855
NM_000051.3(ATM):c.1139_1142dup (p.Ser381fs) rs886041340
NM_000051.3(ATM):c.1141A>G (p.Ser381Gly) rs786203602
NM_000051.3(ATM):c.1142G>T (p.Ser381Ile) rs1462596554
NM_000051.3(ATM):c.1146C>T (p.Val382=) rs786201150
NM_000051.3(ATM):c.1149T>C (p.Pro383=) rs786201409
NM_000051.3(ATM):c.1152C>G (p.Cys384Trp) rs777755997
NM_000051.3(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.3(ATM):c.1159A>C (p.Lys387Gln) rs786202686
NM_000051.3(ATM):c.1159A>G (p.Lys387Glu) rs786202686
NM_000051.3(ATM):c.115A>G (p.Thr39Ala) rs779297339
NM_000051.3(ATM):c.1160A>G (p.Lys387Arg) rs876659755
NM_000051.3(ATM):c.1161G>A (p.Lys387=) rs786202369
NM_000051.3(ATM):c.1162A>G (p.Lys388Glu) rs876659570
NM_000051.3(ATM):c.1163A>G (p.Lys388Arg) rs1060501618
NM_000051.3(ATM):c.1166T>G (p.Ile389Arg) rs757486696
NM_000051.3(ATM):c.1168G>A (p.Glu390Lys) rs876660106
NM_000051.3(ATM):c.116C>G (p.Thr39Arg) rs1555054109
NM_000051.3(ATM):c.1175G>T (p.Gly392Val) rs779035681
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1176C>T (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1178G>A (p.Trp393Ter) rs1025339570
NM_000051.3(ATM):c.1178G>T (p.Trp393Leu) rs1025339570
NM_000051.3(ATM):c.1179G>C (p.Trp393Cys) rs876658567
NM_000051.3(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.3(ATM):c.1185A>G (p.Val395=) rs1555069760
NM_000051.3(ATM):c.1188A>G (p.Ile396Met) rs1565379417
NM_000051.3(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.3(ATM):c.1192G>A (p.Asp398Asn) rs876658833
NM_000051.3(ATM):c.1197C>T (p.His399=) rs786201131
NM_000051.3(ATM):c.119_122del (p.Ile40fs) rs876659116
NM_000051.3(ATM):c.1208C>A (p.Ser403Ter) rs747563556
NM_000051.3(ATM):c.1208C>T (p.Ser403Leu) rs747563556
NM_000051.3(ATM):c.1212G>A (p.Gln404=) rs786201519
NM_000051.3(ATM):c.1219_1221dup (p.Phe407dup) rs1064792998
NM_000051.3(ATM):c.121A>G (p.Lys41Glu) rs1060501672
NM_000051.3(ATM):c.1222G>A (p.Asp408Asn) rs864622548
NM_000051.3(ATM):c.1223A>G (p.Asp408Gly) rs587781582
NM_000051.3(ATM):c.1225C>T (p.Leu409Phe) rs786203815
NM_000051.3(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1234T>C (p.Trp412Arg) rs587779812
NM_000051.3(ATM):c.1235+3A>G rs1417190414
NM_000051.3(ATM):c.1235+4A>G rs786203147
NM_000051.3(ATM):c.1235+4A>T rs786203147
NM_000051.3(ATM):c.1235+4_1235+5del rs770033355
NM_000051.3(ATM):c.1235G>A (p.Trp412Ter) rs587779813
NM_000051.3(ATM):c.1236-2A>T rs80159221
NM_000051.3(ATM):c.1236-3_1236-2del rs587782572
NM_000051.3(ATM):c.1236-3del rs34325032
NM_000051.3(ATM):c.1236-3dup rs34325032
NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.3(ATM):c.1242G>A (p.Gln414=) rs786203667
NM_000051.3(ATM):c.1242G>T (p.Gln414His) rs786203667
NM_000051.3(ATM):c.1245T>G (p.Ile415Met) rs1060501554
NM_000051.3(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.3(ATM):c.1251C>T (p.Thr417=) rs1555070643
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.1260A>C (p.Ile420=) rs750468699
NM_000051.3(ATM):c.1261T>C (p.Ser421Pro) rs376196220
NM_000051.3(ATM):c.1261_1263del (p.Ser421del) rs1555070666
NM_000051.3(ATM):c.1263A>G (p.Ser421=) rs1060504285
NM_000051.3(ATM):c.126T>G (p.His42Gln) rs587781661
NM_000051.3(ATM):c.1271C>A (p.Pro424His) rs147472613
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1277G>A (p.Ser426Asn) rs1350528190
NM_000051.3(ATM):c.127C>A (p.Leu43Ile) rs772591447
NM_000051.3(ATM):c.127C>G (p.Leu43Val) rs772591447
NM_000051.3(ATM):c.1292A>C (p.Glu431Ala) rs1320262218
NM_000051.3(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.3(ATM):c.1296G>C (p.Leu432=) rs876658894
NM_000051.3(ATM):c.129A>G (p.Leu43=) rs780616292
NM_000051.3(ATM):c.12A>G (p.Val4=) rs786201365
NM_000051.3(ATM):c.1300C>T (p.Pro434Ser) rs1064795171
NM_000051.3(ATM):c.1302A>G (p.Pro434=) rs1555070715
NM_000051.3(ATM):c.1303T>C (p.Leu435=) rs748469311
NM_000051.3(ATM):c.1314A>C (p.Ile438=) rs770573462
NM_000051.3(ATM):c.1317A>G (p.Leu439=) rs1232968268
NM_000051.3(ATM):c.1319C>T (p.Ser440Phe) rs773895161
NM_000051.3(ATM):c.131A>G (p.Asp44Gly) rs150143957
NM_000051.3(ATM):c.1324C>T (p.Leu442Phe) rs1060501574
NM_000051.3(ATM):c.1329A>C (p.Leu443=) rs201460863
NM_000051.3(ATM):c.1329del (p.Gln445fs) rs587782844
NM_000051.3(ATM):c.1332C>A (p.Pro444=) rs763361384
NM_000051.3(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.3(ATM):c.1334A>G (p.Gln445Arg) rs1591523341
NM_000051.3(ATM):c.1335A>G (p.Gln445=) rs1385656085
NM_000051.3(ATM):c.1336C>A (p.Gln446Lys) rs587782121
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.133C>A (p.Arg45=) rs3218684
NM_000051.3(ATM):c.133C>T (p.Arg45Trp) rs3218684
NM_000051.3(ATM):c.1340G>A (p.Arg447Gln) rs760676955
NM_000051.3(ATM):c.1340G>T (p.Arg447Leu) rs760676955
NM_000051.3(ATM):c.1343A>G (p.His448Arg) rs1555070781
NM_000051.3(ATM):c.1346G>A (p.Gly449Glu) rs1163918420
NM_000051.3(ATM):c.134G>A (p.Arg45Gln) rs762382111
NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) rs201719927
NM_000051.3(ATM):c.1352G>A (p.Arg451His) rs554805703
NM_000051.3(ATM):c.1354A>G (p.Thr452Ala) rs1324524747
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1356A>G (p.Thr452=) rs1555070803
NM_000051.3(ATM):c.1358dup (p.Tyr454fs) rs1555070805
NM_000051.3(ATM):c.1359A>G (p.Pro453=) rs786203693
NM_000051.3(ATM):c.135G>A (p.Arg45=) rs970407823
NM_000051.3(ATM):c.135G>T (p.Arg45=) rs970407823
NM_000051.3(ATM):c.1362T>C (p.Tyr454=) rs1373614735
NM_000051.3(ATM):c.1363G>A (p.Val455Met) rs368879876
NM_000051.3(ATM):c.1364T>C (p.Val455Ala) rs876658772
NM_000051.3(ATM):c.1368A>G (p.Leu456=) rs750579940
NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) rs749036865
NM_000051.3(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.3(ATM):c.1372T>C (p.Cys458Arg) rs876660619
NM_000051.3(ATM):c.1378A>C (p.Thr460Pro) rs587782729
NM_000051.3(ATM):c.1379C>T (p.Thr460Met) rs587781841
NM_000051.3(ATM):c.1380G>A (p.Thr460=) rs145333518
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.138T>C (p.His46=) rs770834907
NM_000051.3(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.3(ATM):c.1392G>A (p.Leu464=) rs760191806
NM_000051.3(ATM):c.1392G>T (p.Leu464Phe) rs760191806
NM_000051.3(ATM):c.1394G>C (p.Cys465Ser) rs1555070888
NM_000051.3(ATM):c.1395T>G (p.Cys465Trp) rs1240144277
NM_000051.3(ATM):c.1396C>G (p.Gln466Glu) rs876660485
NM_000051.3(ATM):c.1396C>T (p.Gln466Ter) rs876660485
NM_000051.3(ATM):c.1402A>G (p.Lys468Glu) rs876660820
NM_000051.3(ATM):c.1407G>A (p.Arg469=) rs1555070912
NM_000051.3(ATM):c.1410A>C (p.Ser470=) rs939650649
NM_000051.3(ATM):c.1410A>G (p.Ser470=) rs939650649
NM_000051.3(ATM):c.1416A>G (p.Leu472=) rs786201691
NM_000051.3(ATM):c.1421G>A (p.Ser474Asn) rs876659240
NM_000051.3(ATM):c.1421G>T (p.Ser474Ile) rs876659240
NM_000051.3(ATM):c.1424C>G (p.Ser475Ter) rs786203550
NM_000051.3(ATM):c.1428A>G (p.Gln476=) rs745509434
NM_000051.3(ATM):c.1431G>C (p.Lys477Asn) rs1555070941
NM_000051.3(ATM):c.1435G>T (p.Asp479Tyr) rs1555070953
NM_000051.3(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.3(ATM):c.1436A>G (p.Asp479Gly) rs1555070958
NM_000051.3(ATM):c.1439_1448del (p.Leu480fs) rs876658651
NM_000051.3(ATM):c.1440A>C (p.Leu480Phe) rs370240037
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1443A>C (p.Leu481Phe) rs753808755
NM_000051.3(ATM):c.1446del (p.Lys482fs) rs1060501670
NM_000051.3(ATM):c.1455T>C (p.Asn485=) rs1385019623
NM_000051.3(ATM):c.1464G>T (p.Trp488Cys) rs377597949
NM_000051.3(ATM):c.1464del (p.Trp488fs) rs1555070994
NM_000051.3(ATM):c.1466G>T (p.Cys489Phe) rs776412334
NM_000051.3(ATM):c.1467dup (p.Ile490fs) rs1555071002
NM_000051.3(ATM):c.1468A>G (p.Ile490Val) rs761850075
NM_000051.3(ATM):c.1469T>C (p.Ile490Thr) rs1565383172
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.146C>T (p.Ser49Phe) rs1800054
NM_000051.3(ATM):c.1475T>C (p.Phe492Ser) rs1555071017
NM_000051.3(ATM):c.1477C>T (p.Arg493Cys) rs750280306
NM_000051.3(ATM):c.147C>T (p.Ser49=) rs876660033
NM_000051.3(ATM):c.1481G>A (p.Gly494Asp) rs786202233
NM_000051.3(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.3(ATM):c.1487G>A (p.Ser496Asn) rs778890679
NM_000051.3(ATM):c.1487G>T (p.Ser496Ile) rs778890679
NM_000051.3(ATM):c.1491T>A (p.Ser497=) rs1555071057
NM_000051.3(ATM):c.1492G>C (p.Glu498Gln) rs1555071060
NM_000051.3(ATM):c.1494G>A (p.Glu498=) rs763108858
NM_000051.3(ATM):c.149A>G (p.Lys50Arg) rs1479478300
NM_000051.3(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.3(ATM):c.1503A>G (p.Gln501=) rs786203736
NM_000051.3(ATM):c.1505C>G (p.Ala502Gly) rs766595156
NM_000051.3(ATM):c.1511A>G (p.Asn504Ser) rs56365018
NM_000051.3(ATM):c.1512del (p.Phe505fs) rs1555071103
NM_000051.3(ATM):c.1514T>G (p.Phe505Cys) rs1555071109
NM_000051.3(ATM):c.1515T>C (p.Phe505=) rs1057520521
NM_000051.3(ATM):c.151C>T (p.Gln51Ter) rs786203888
NM_000051.3(ATM):c.1522C>T (p.Leu508Phe) rs1011518082
NM_000051.3(ATM):c.1524T>C (p.Leu508=) rs559095379
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1528G>A (p.Ala510Thr) rs1555071138
NM_000051.3(ATM):c.1534A>G (p.Ile512Val) rs876658180
NM_000051.3(ATM):c.1537C>T (p.Gln513Ter) rs865985297
NM_000051.3(ATM):c.1538A>C (p.Gln513Pro) rs753109010
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1542T>C (p.Gly514=) rs572567674
NM_000051.3(ATM):c.1547T>C (p.Leu516Ser) rs786202195
NM_000051.3(ATM):c.1550T>G (p.Val517Gly) rs777986229
NM_000051.3(ATM):c.1555G>A (p.Val519Ile) rs758056561
NM_000051.3(ATM):c.1556T>C (p.Val519Ala) rs574458765
NM_000051.3(ATM):c.1560C>T (p.Asp520=) rs1591524777
NM_000051.3(ATM):c.156A>C (p.Gly52=) rs876660725
NM_000051.3(ATM):c.1579T>C (p.Phe527Leu) rs864622262
NM_000051.3(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.3(ATM):c.1581T>C (p.Phe527=) rs1555071227
NM_000051.3(ATM):c.1582A>G (p.Thr528Ala) rs876658647
NM_000051.3(ATM):c.1584T>C (p.Thr528=) rs864622408
NM_000051.3(ATM):c.1591G>C (p.Ala531Pro) rs876660941
NM_000051.3(ATM):c.1596C>T (p.Cys532=) rs564050785
NM_000051.3(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.3(ATM):c.159A>G (p.Lys53=) rs1060504281
NM_000051.3(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.3(ATM):c.1601C>G (p.Pro534Arg) rs587782212
NM_000051.3(ATM):c.1601C>T (p.Pro534Leu) rs587782212
NM_000051.3(ATM):c.1605A>G (p.Ser535=) rs1060504290
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1607+5G>A rs766535949
NM_000051.3(ATM):c.1608-1G>A rs1565385010
NM_000051.3(ATM):c.1608-3T>C rs774196176
NM_000051.3(ATM):c.1610C>A (p.Pro537His) rs587782463
NM_000051.3(ATM):c.1614A>G (p.Ala538=) rs876659636
NM_000051.3(ATM):c.1620C>T (p.Cys540=) rs1555071676
NM_000051.3(ATM):c.1624T>G (p.Leu542Val) rs587781366
NM_000051.3(ATM):c.1628C>T (p.Thr543Ile) rs772874616
NM_000051.3(ATM):c.1629T>G (p.Thr543=) rs760285673
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1631T>C (p.Leu544Ser) rs375754332
NM_000051.3(ATM):c.1634C>T (p.Ala545Val) rs878853485
NM_000051.3(ATM):c.1635A>C (p.Ala545=) rs1555071712
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1640C>T (p.Thr547Ile) rs786203572
NM_000051.3(ATM):c.1641C>A (p.Thr547=) rs864622141
NM_000051.3(ATM):c.1642A>G (p.Thr548Ala) rs878853486
NM_000051.3(ATM):c.1648A>G (p.Ile550Val) rs202144949
NM_000051.3(ATM):c.1649T>G (p.Ile550Arg) rs864622285
NM_000051.3(ATM):c.1651G>T (p.Val551Phe) rs1555071742
NM_000051.3(ATM):c.1656A>G (p.Pro552=) rs1060504275
NM_000051.3(ATM):c.165G>C (p.Leu55Phe) rs1555054230
NM_000051.3(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.3(ATM):c.1661C>T (p.Thr554Met) rs1060501694
NM_000051.3(ATM):c.1662G>A (p.Thr554=) rs764646531
NM_000051.3(ATM):c.1662G>C (p.Thr554=) rs764646531
NM_000051.3(ATM):c.1670T>C (p.Met557Thr) rs786202770
NM_000051.3(ATM):c.1671G>A (p.Met557Ile) rs730881341
NM_000051.3(ATM):c.1673G>C (p.Gly558Ala) rs1064795257
NM_000051.3(ATM):c.1673G>T (p.Gly558Val) rs1064795257
NM_000051.3(ATM):c.1683A>G (p.Gln561=) rs876660110
NM_000051.3(ATM):c.1685A>G (p.Asn562Ser) rs368209025
NM_000051.3(ATM):c.1686T>C (p.Asn562=) rs1131691152
NM_000051.3(ATM):c.1688T>G (p.Met563Arg) rs750815208
NM_000051.3(ATM):c.1689G>A (p.Met563Ile) rs786202469
NM_000051.3(ATM):c.1695A>G (p.Glu565=) rs780932013
NM_000051.3(ATM):c.169T>C (p.Trp57Arg) rs1555054238
NM_000051.3(ATM):c.1700A>G (p.Asn567Ser) rs786203230
NM_000051.3(ATM):c.1702A>G (p.Arg568Gly) rs876659425
NM_000051.3(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.3(ATM):c.1704A>C (p.Arg568Ser) rs878853488
NM_000051.3(ATM):c.1707C>T (p.Ser569=) rs1381837075
NM_000051.3(ATM):c.170G>A (p.Trp57Ter) rs587779818
NM_000051.3(ATM):c.171G>T (p.Trp57Cys) rs1555054249
NM_000051.3(ATM):c.1720G>C (p.Glu574Gln) rs770911276
NM_000051.3(ATM):c.1722A>C (p.Glu574Asp) rs372334891
NM_000051.3(ATM):c.1722A>G (p.Glu574=) rs372334891
NM_000051.3(ATM):c.1726A>G (p.Ile576Val) rs1064795170
NM_000051.3(ATM):c.1727T>C (p.Ile576Thr) rs730881342
NM_000051.3(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.3(ATM):c.1732A>C (p.Lys578Gln) rs1555071926
NM_000051.3(ATM):c.1734A>G (p.Lys578=) rs1555071939
NM_000051.3(ATM):c.1737G>A (p.Trp579Ter) rs786201689
NM_000051.3(ATM):c.1740C>T (p.Leu580=) rs1060504269
NM_000051.3(ATM):c.1741T>G (p.Leu581Val) rs876659822
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1746C>G (p.Phe582Leu) rs145629926
NM_000051.3(ATM):c.1748A>C (p.Tyr583Ser) rs587780614
NM_000051.3(ATM):c.1748A>G (p.Tyr583Cys) rs587780614
NM_000051.3(ATM):c.1751A>C (p.Gln584Pro) rs876660149
NM_000051.3(ATM):c.1757A>T (p.Glu586Val) rs587781907
NM_000051.3(ATM):c.175G>T (p.Ala59Ser) rs752527112
NM_000051.3(ATM):c.1768G>T (p.Glu590Ter) rs876659283
NM_000051.3(ATM):c.176C>T (p.Ala59Val) rs760880388
NM_000051.3(ATM):c.1773T>C (p.Asn591=) rs61734356
NM_000051.3(ATM):c.1775G>A (p.Ser592Asn) rs776911505
NM_000051.3(ATM):c.1776C>A (p.Ser592Arg) rs1057524304
NM_000051.3(ATM):c.1779A>C (p.Thr593=) rs876660493
NM_000051.3(ATM):c.1782A>G (p.Glu594=) rs876660494
NM_000051.3(ATM):c.178G>C (p.Val60Leu) rs1166668199
NM_000051.3(ATM):c.1790C>T (p.Pro597Leu) rs765847854
NM_000051.3(ATM):c.1792A>G (p.Ile598Val) rs730881343
NM_000051.3(ATM):c.1794T>C (p.Ile598=) rs786201830
NM_000051.3(ATM):c.1798C>A (p.His600Asn) rs1555072089
NM_000051.3(ATM):c.179T>C (p.Val60Ala) rs988441570
NM_000051.3(ATM):c.1803-4G>A rs876659300
NM_000051.3(ATM):c.1803-5T>C rs786203034
NM_000051.3(ATM):c.180T>G (p.Val60=) rs786201375
NM_000051.3(ATM):c.1813C>T (p.His605Tyr) rs786202928
NM_000051.3(ATM):c.1814A>G (p.His605Arg) rs771877351
NM_000051.3(ATM):c.1821A>G (p.Val607=) rs876660362
NM_000051.3(ATM):c.182T>C (p.Phe61Ser) rs786203063
NM_000051.3(ATM):c.1834C>G (p.Leu612Val) rs747242300
NM_000051.3(ATM):c.1836T>A (p.Leu612=) rs1309539769
NM_000051.3(ATM):c.1837G>T (p.Val613Leu) rs200124136
NM_000051.3(ATM):c.1838T>G (p.Val613Gly) rs762018538
NM_000051.3(ATM):c.1841G>C (p.Ser614Thr) rs770377706
NM_000051.3(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.3(ATM):c.1846A>G (p.Thr616Ala) rs587780615
NM_000051.3(ATM):c.1849A>G (p.Met617Val) rs1555072530
NM_000051.3(ATM):c.184A>G (p.Arg62Gly) rs876659407
NM_000051.3(ATM):c.185+4T>A rs1060501685
NM_000051.3(ATM):c.1852A>G (p.Lys618Glu) rs1555072538
NM_000051.3(ATM):c.1855A>C (p.Asn619His) rs140882609
NM_000051.3(ATM):c.186-1G>A rs1259911051
NM_000051.3(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.3(ATM):c.1870A>G (p.Met624Val) rs863224557
NM_000051.3(ATM):c.1880T>G (p.Phe627Cys) rs546087885
NM_000051.3(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.3(ATM):c.1881C>T (p.Phe627=) rs1555072574
NM_000051.3(ATM):c.1884A>G (p.Gln628=) rs1555072578
NM_000051.3(ATM):c.1887C>T (p.Ser629=) rs143097772
NM_000051.3(ATM):c.1888G>A (p.Val630Met) rs148191382
NM_000051.3(ATM):c.1889T>C (p.Val630Ala) rs587782226
NM_000051.3(ATM):c.1892C>T (p.Pro631Leu) rs756782634
NM_000051.3(ATM):c.1893A>G (p.Pro631=) rs764702196
NM_000051.3(ATM):c.1898+1G>T rs758325274
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1898+3A>G rs200169643
NM_000051.3(ATM):c.1899-1G>T rs1555073065
NM_000051.3(ATM):c.1899-3A>G rs1555073062
NM_000051.3(ATM):c.1899T>G (p.Cys633Trp) rs1040176168
NM_000051.3(ATM):c.189T>C (p.Phe63=) rs926466183
NM_000051.3(ATM):c.18T>C (p.Asn6=) rs876659088
NM_000051.3(ATM):c.1902A>G (p.Glu634=) rs1060501633
NM_000051.3(ATM):c.1903C>T (p.His635Tyr) rs761491947
NM_000051.3(ATM):c.1905C>T (p.His635=) rs1020808836
NM_000051.3(ATM):c.1905_1910del (p.His635_His636del) rs587781635
NM_000051.3(ATM):c.1906C>T (p.His636Tyr) rs786203654
NM_000051.3(ATM):c.1907A>G (p.His636Arg) rs1333990758
NM_000051.3(ATM):c.1911A>G (p.Gln637=) rs764790965
NM_000051.3(ATM):c.1914A>C (p.Lys638Asn) rs587781753
NM_000051.3(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610
NM_000051.3(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.3(ATM):c.1926A>G (p.Glu642=) rs786201469
NM_000051.3(ATM):c.1926A>T (p.Glu642Asp) rs786201469
NM_000051.3(ATM):c.1929T>A (p.Leu643=) rs876659911
NM_000051.3(ATM):c.192A>G (p.Leu64=) rs587780616
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1935C>T (p.Phe645=) rs876659709
NM_000051.3(ATM):c.1938A>G (p.Ser646=) rs1376318521
NM_000051.3(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.3(ATM):c.193C>G (p.Gln65Glu) rs775248597
NM_000051.3(ATM):c.1943T>C (p.Val648Ala) rs141175037
NM_000051.3(ATM):c.1945G>A (p.Glu649Lys) rs786202511
NM_000051.3(ATM):c.1947A>G (p.Glu649=) rs1032244771
NM_000051.3(ATM):c.194A>G (p.Gln65Arg) rs760471526
NM_000051.3(ATM):c.1951C>T (p.Leu651=) rs1057521751
NM_000051.3(ATM):c.1952T>C (p.Leu651Pro) rs1555073179
NM_000051.3(ATM):c.1953A>G (p.Leu651=) rs730881283
NM_000051.3(ATM):c.1956T>G (p.Phe652Leu) rs587782544
NM_000051.3(ATM):c.1960C>A (p.Gln654Lys) rs528165789
NM_000051.3(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.3(ATM):c.1961A>C (p.Gln654Pro) rs876659966
NM_000051.3(ATM):c.1966A>G (p.Thr656Ala) rs1064793032
NM_000051.3(ATM):c.1977G>T (p.Lys659Asn) rs1060501565
NM_000051.3(ATM):c.1978dup (p.Met660fs) rs1555073243
NM_000051.3(ATM):c.1979T>C (p.Met660Thr) rs1298234172
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.1989A>G (p.Leu663=) rs786202748
NM_000051.3(ATM):c.198A>G (p.Lys66=) rs540920248
NM_000051.3(ATM):c.1994T>C (p.Ile665Thr) rs1064793789
NM_000051.3(ATM):c.1998G>A (p.Val666=) rs748380150
NM_000051.3(ATM):c.1998G>C (p.Val666=) rs748380150
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.2002G>A (p.Glu668Lys) rs876659808
NM_000051.3(ATM):c.2005T>C (p.Cys669Arg) rs587782141
NM_000051.3(ATM):c.2009G>A (p.Gly670Asp) rs887944555
NM_000051.3(ATM):c.200A>G (p.Tyr67Cys) rs754033733
NM_000051.3(ATM):c.2012T>A (p.Ile671Lys) rs750897021
NM_000051.3(ATM):c.2019G>A (p.Lys673=) rs786203021
NM_000051.3(ATM):c.2019_2020insGACAAG (p.His674_Gln675insAspLys) rs876659686
NM_000051.3(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.2028C>T (p.Ser676=) rs375196053
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.3(ATM):c.2036G>C (p.Gly679Ala) rs544123518
NM_000051.3(ATM):c.2036G>T (p.Gly679Val) rs544123518
NM_000051.3(ATM):c.2040C>T (p.Phe680=) rs587780855
NM_000051.3(ATM):c.2042C>T (p.Ser681Phe) rs1060501585
NM_000051.3(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.3(ATM):c.2048A>G (p.His683Arg) rs1421091487
NM_000051.3(ATM):c.2050C>G (p.Gln684Glu) rs1060501691
NM_000051.3(ATM):c.2050C>T (p.Gln684Ter) rs1060501691
NM_000051.3(ATM):c.2051A>G (p.Gln684Arg) rs772393149
NM_000051.3(ATM):c.2054A>G (p.Asn685Ser) rs1412443702
NM_000051.3(ATM):c.2054A>T (p.Asn685Ile) rs1412443702
NM_000051.3(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.3(ATM):c.2057T>A (p.Leu686His) rs1239416977
NM_000051.3(ATM):c.2058C>G (p.Leu686=) rs761397203
NM_000051.3(ATM):c.205C>T (p.Gln69Ter) rs876660631
NM_000051.3(ATM):c.2062G>A (p.Glu688Lys) rs769338089
NM_000051.3(ATM):c.2062G>C (p.Glu688Gln) rs769338089
NM_000051.3(ATM):c.2064A>G (p.Glu688=) rs772739433
NM_000051.3(ATM):c.2067A>G (p.Ser689=) rs1555073434
NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) rs765965513
NM_000051.3(ATM):c.2075G>A (p.Arg692His) rs751515818
NM_000051.3(ATM):c.2082T>C (p.Leu694=) rs369642243
NM_000051.3(ATM):c.2085G>A (p.Leu695=) rs786202229
NM_000051.3(ATM):c.2088A>G (p.Gly696=) rs1555073469
NM_000051.3(ATM):c.2088A>T (p.Gly696=) rs1555073469
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2104C>G (p.Leu702Val) rs1555073490
NM_000051.3(ATM):c.2108A>G (p.Asn703Ser) rs587781304
NM_000051.3(ATM):c.2115C>T (p.Tyr705=) rs876659149
NM_000051.3(ATM):c.2116T>C (p.Ser706Pro) rs536609092
NM_000051.3(ATM):c.2117C>T (p.Ser706Leu) rs779004090
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2119_2123del (p.Ser707fs) rs1555073529
NM_000051.3(ATM):c.2125-4T>C rs1064795623
NM_000051.3(ATM):c.2125A>T (p.Ile709Phe) rs864622259
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.3(ATM):c.2129del (p.Thr710fs) rs786203807
NM_000051.3(ATM):c.2131A>G (p.Asn711Asp) rs587781654
NM_000051.3(ATM):c.2141C>T (p.Thr714Ile) rs1555074846
NM_000051.3(ATM):c.2143C>T (p.Leu715Phe) rs758864982
NM_000051.3(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.3(ATM):c.2149C>T (p.Arg717Trp) rs147515380
NM_000051.3(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.3(ATM):c.2150G>C (p.Arg717Pro) rs768874297
NM_000051.3(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.3(ATM):c.2159G>A (p.Arg720His) rs55830714
NM_000051.3(ATM):c.215C>T (p.Thr72Ile) rs876658893
NM_000051.3(ATM):c.2166G>A (p.Leu722=) rs1555074886
NM_000051.3(ATM):c.2168T>C (p.Val723Ala) rs745399310
NM_000051.3(ATM):c.2169G>T (p.Val723=) rs878853491
NM_000051.3(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.3(ATM):c.2171G>A (p.Gly724Asp) rs1555074904
NM_000051.3(ATM):c.2175C>T (p.Val725=) rs140110298
NM_000051.3(ATM):c.2176C>T (p.Leu726Phe) rs775266056
NM_000051.3(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.3(ATM):c.2181C>T (p.Gly727=) rs876658836
NM_000051.3(ATM):c.2186A>G (p.Tyr729Cys) rs1555074940
NM_000051.3(ATM):c.2187C>T (p.Tyr729=) rs373430058
NM_000051.3(ATM):c.2188T>G (p.Cys730Gly) rs1555074947
NM_000051.3(ATM):c.2189G>A (p.Cys730Tyr) rs587781595
NM_000051.3(ATM):c.2190T>C (p.Cys730=) rs876659949
NM_000051.3(ATM):c.2192A>T (p.Tyr731Phe) rs730881345
NM_000051.3(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2207C>T (p.Ala736Val) rs587780617
NM_000051.3(ATM):c.2208T>C (p.Ala736=) rs761874856
NM_000051.3(ATM):c.2211A>G (p.Glu737=) rs1555074990
NM_000051.3(ATM):c.2214G>A (p.Glu738=) rs1565395061
NM_000051.3(ATM):c.2218G>A (p.Ala740Thr) rs786201866
NM_000051.3(ATM):c.221G>A (p.Cys74Tyr) rs864622515
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
NM_000051.3(ATM):c.2222A>C (p.Tyr741Ser) rs878853492
NM_000051.3(ATM):c.2222A>G (p.Tyr741Cys) rs878853492
NM_000051.3(ATM):c.2223T>C (p.Tyr741=) rs1057524111
NM_000051.3(ATM):c.2233T>C (p.Leu745=) rs1293287271
NM_000051.3(ATM):c.2238C>T (p.Phe746=) rs786203595
NM_000051.3(ATM):c.2245G>A (p.Ala749Thr) rs876660163
NM_000051.3(ATM):c.2249A>C (p.Lys750Thr) rs1060501540
NM_000051.3(ATM):c.2250+2T>C rs1555075037
NM_000051.3(ATM):c.2250+5G>A rs1555075047
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2251-1G>C rs876659710
NM_000051.3(ATM):c.2251-4A>G rs786202935
NM_000051.3(ATM):c.2254C>T (p.Leu752=) rs756522395
NM_000051.3(ATM):c.2258T>C (p.Met753Thr) rs587781607
NM_000051.3(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.3(ATM):c.2260C>A (p.Gln754Lys) rs3205809
NM_000051.3(ATM):c.2262A>G (p.Gln754=) rs778320952
NM_000051.3(ATM):c.2263T>C (p.Cys755Arg) rs1060501646
NM_000051.3(ATM):c.2264G>A (p.Cys755Tyr) rs876660916
NM_000051.3(ATM):c.2264G>T (p.Cys755Phe) rs876660916
NM_000051.3(ATM):c.2269G>A (p.Gly757Arg) rs587779819
NM_000051.3(ATM):c.2272G>T (p.Glu758Ter) rs1555075658
NM_000051.3(ATM):c.2275A>G (p.Ser759Gly) rs148705269
NM_000051.3(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.3(ATM):c.2278A>G (p.Ile760Val) rs1555075672
NM_000051.3(ATM):c.227G>A (p.Arg76Lys) rs1565346853
NM_000051.3(ATM):c.2281A>G (p.Thr761Ala) rs2235011
NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) rs2235011
NM_000051.3(ATM):c.2284C>G (p.Leu762Val) rs876659401
NM_000051.3(ATM):c.2284C>T (p.Leu762=) rs876659401
NM_000051.3(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.2296A>G (p.Lys766Glu) rs748125666
NM_000051.3(ATM):c.229A>G (p.Ile77Val) rs1064796032
NM_000051.3(ATM):c.2306A>G (p.Glu769Gly) rs1377126475
NM_000051.3(ATM):c.2317A>C (p.Ile773Leu) rs876659084
NM_000051.3(ATM):c.2321G>A (p.Gly774Asp) rs1555075727
NM_000051.3(ATM):c.2322T>C (p.Gly774=) rs769575297
NM_000051.3(ATM):c.2326T>C (p.Leu776=) rs762937809
NM_000051.3(ATM):c.232G>A (p.Ala78Thr) rs878853493
NM_000051.3(ATM):c.2330G>A (p.Arg777Lys) rs876660432
NM_000051.3(ATM):c.2333A>G (p.Asn778Ser) rs587779820
NM_000051.3(ATM):c.2338A>G (p.Met780Val) rs587781446
NM_000051.3(ATM):c.2338A>T (p.Met780Leu) rs587781446
NM_000051.3(ATM):c.233C>G (p.Ala78Gly) rs876659669
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2352A>T (p.Thr784=) rs759679953
NM_000051.3(ATM):c.2353C>T (p.Arg785Cys) rs587778065
NM_000051.3(ATM):c.2354G>A (p.Arg785His) rs587782128
NM_000051.3(ATM):c.2355T>C (p.Arg785=) rs1555075801
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2366A>G (p.Asn789Ser) rs1591546766
NM_000051.3(ATM):c.2368T>C (p.Cys790Arg) rs1555075810
NM_000051.3(ATM):c.2369G>C (p.Cys790Ser) rs764538548
NM_000051.3(ATM):c.2371A>G (p.Thr791Ala) rs1555075814
NM_000051.3(ATM):c.2373C>T (p.Thr791=) rs878853494
NM_000051.3(ATM):c.2374A>G (p.Lys792Glu) rs1423446897
NM_000051.3(ATM):c.2376+1G>C rs730881347
NM_000051.3(ATM):c.2376+1G>T rs730881347
NM_000051.3(ATM):c.2376+3A>G rs758083563
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2377-5T>C rs754206007
NM_000051.3(ATM):c.2377A>C (p.Lys793Gln) rs587781583
NM_000051.3(ATM):c.2377A>G (p.Lys793Glu) rs587781583
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2380A>C (p.Ser794Arg) rs876658149
NM_000051.3(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.3(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
NM_000051.3(ATM):c.2387A>T (p.Asn796Ile) rs1555076612
NM_000051.3(ATM):c.238C>T (p.Pro80Ser) rs750597831
NM_000051.3(ATM):c.2394T>C (p.Ile798=) rs876659882
NM_000051.3(ATM):c.2396C>T (p.Ala799Val) rs199954262
NM_000051.3(ATM):c.239C>T (p.Pro80Leu) rs876659996
NM_000051.3(ATM):c.23T>G (p.Leu8Arg) rs1555053885
NM_000051.3(ATM):c.2408T>C (p.Phe803Ser) rs751218526
NM_000051.3(ATM):c.2414G>A (p.Arg805Gln) rs587782255
NM_000051.3(ATM):c.2418G>T (p.Leu806Phe) rs587781296
NM_000051.3(ATM):c.241A>G (p.Asn81Asp) rs758962678
NM_000051.3(ATM):c.2424A>G (p.Thr808=) rs1555076671
NM_000051.3(ATM):c.2425T>G (p.Ser809Ala) rs926246315
NM_000051.3(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.3(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.3(ATM):c.2427A>G (p.Ser809=) rs1591551435
NM_000051.3(ATM):c.2428A>G (p.Lys810Glu) rs201909756
NM_000051.3(ATM):c.2436G>A (p.Met812Ile) rs876658688
NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.3(ATM):c.2442C>T (p.Asp814=) rs3218695
NM_000051.3(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.3(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.2450A>G (p.Asp817Gly) rs587779821
NM_000051.3(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.3(ATM):c.2453T>C (p.Ile818Thr) rs1591551563
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.2462G>C (p.Ser821Thr) rs1555076748
NM_000051.3(ATM):c.2466+1del rs786202783
NM_000051.3(ATM):c.2466+4A>C rs563482577
NM_000051.3(ATM):c.2466+4A>G rs563482577
NM_000051.3(ATM):c.2466+5G>C rs1064795969
NM_000051.3(ATM):c.2466A>C (p.Leu822Phe) rs747108452
NM_000051.3(ATM):c.2466A>G (p.Leu822=) rs747108452
NM_000051.3(ATM):c.2467-2A>T rs1555082050
NM_000051.3(ATM):c.2467-4G>T rs1555082048
NM_000051.3(ATM):c.2467G>T (p.Ala823Ser) rs786202895
NM_000051.3(ATM):c.246A>G (p.Val82=) rs757944864
NM_000051.3(ATM):c.2472C>T (p.Ser824=) rs786203289
NM_000051.3(ATM):c.2474T>G (p.Phe825Cys) rs1060501648
NM_000051.3(ATM):c.2475C>T (p.Phe825=) rs776907383
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2480A>G (p.Lys827Arg) rs372230498
NM_000051.3(ATM):c.2487A>G (p.Pro829=) rs1330586139
NM_000051.3(ATM):c.2492A>G (p.Asp831Gly) rs587781352
NM_000051.3(ATM):c.2492A>T (p.Asp831Val) rs587781352
NM_000051.3(ATM):c.2494C>G (p.Arg832Gly) rs2229022
NM_000051.3(ATM):c.2494dup (p.Arg832fs) rs1131691165
NM_000051.3(ATM):c.2495G>A (p.Arg832His) rs199875915
NM_000051.3(ATM):c.2495G>C (p.Arg832Pro) rs199875915
NM_000051.3(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.3(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.3(ATM):c.2499A>C (p.Gly833=) rs1060504263
NM_000051.3(ATM):c.24G>A (p.Leu8=) rs1555053888
NM_000051.3(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.3(ATM):c.2501A>T (p.Glu834Val) rs730881349
NM_000051.3(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.3(ATM):c.2503G>T (p.Val835Leu) rs757151992
NM_000051.3(ATM):c.2508dup (p.Ser837fs) rs770396940
NM_000051.3(ATM):c.2515G>C (p.Glu839Gln) rs1246807453
NM_000051.3(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.3(ATM):c.2519A>G (p.Asp840Gly) rs786202605
NM_000051.3(ATM):c.2519A>T (p.Asp840Val) rs786202605
NM_000051.3(ATM):c.251C>T (p.Ala84Val) rs587781937
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2522A>G (p.Asp841Gly) rs587781812
NM_000051.3(ATM):c.2525C>G (p.Thr842Ser) rs1555082164
NM_000051.3(ATM):c.2527A>G (p.Asn843Asp) rs1162447958
NM_000051.3(ATM):c.2529T>C (p.Asn843=) rs876660189
NM_000051.3(ATM):c.2530_2535del (p.Gly844_Asn845del) rs956305036
NM_000051.3(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.3(ATM):c.2531G>C (p.Gly844Ala) rs587781808
NM_000051.3(ATM):c.2532A>G (p.Gly844=) rs755261743
NM_000051.3(ATM):c.2536C>G (p.Leu846Val) rs1555082186
NM_000051.3(ATM):c.2539A>G (p.Met847Val) rs587779823
NM_000051.3(ATM):c.2539A>T (p.Met847Leu) rs587779823
NM_000051.3(ATM):c.2547G>A (p.Val849=) rs1060504262
NM_000051.3(ATM):c.2548G>T (p.Glu850Ter) rs587782280
NM_000051.3(ATM):c.2549A>G (p.Glu850Gly) rs876660456
NM_000051.3(ATM):c.2551G>A (p.Asp851Asn) rs1555082218
NM_000051.3(ATM):c.2552A>G (p.Asp851Gly) rs748203812
NM_000051.3(ATM):c.2553T>G (p.Asp851Glu) rs1064793513
NM_000051.3(ATM):c.2554C>T (p.Gln852Ter) rs758081262
NM_000051.3(ATM):c.2555A>C (p.Gln852Pro) rs1265258461
NM_000051.3(ATM):c.2557T>C (p.Ser853Pro) rs876658913
NM_000051.3(ATM):c.2561C>A (p.Ser854Tyr) rs778123895
NM_000051.3(ATM):c.2561C>G (p.Ser854Cys) rs778123895
NM_000051.3(ATM):c.2564T>C (p.Met855Thr) rs587779824
NM_000051.3(ATM):c.2567A>G (p.Asn856Ser) rs1555082253
NM_000051.3(ATM):c.2569C>G (p.Leu857Val) rs876659486
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2572_2575del (p.Phe858fs) rs1131691148
NM_000051.3(ATM):c.2577C>T (p.Asn859=) rs730881286
NM_000051.3(ATM):c.2578G>C (p.Asp860His) rs587779825
NM_000051.3(ATM):c.2579A>G (p.Asp860Gly) rs761251711
NM_000051.3(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.3(ATM):c.2583C>T (p.Tyr861=) rs886039633
NM_000051.3(ATM):c.2584C>A (p.Pro862Thr) rs876660537
NM_000051.3(ATM):c.258A>G (p.Thr86=) rs777434093
NM_000051.3(ATM):c.2590A>G (p.Ser864Gly) rs764842086
NM_000051.3(ATM):c.2591G>A (p.Ser864Asn) rs1555082306
NM_000051.3(ATM):c.2598T>G (p.Val866=) rs730881350
NM_000051.3(ATM):c.2603A>G (p.Asp868Gly) rs750322758
NM_000051.3(ATM):c.2606C>A (p.Ala869Glu) rs145513717
NM_000051.3(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2610C>T (p.Asn870=) rs587780618
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2615C>T (p.Pro872Leu) rs786202977
NM_000051.3(ATM):c.2619A>G (p.Gly873=) rs777979257
NM_000051.3(ATM):c.2624del (p.Ser875fs) rs1555082344
NM_000051.3(ATM):c.2630G>C (p.Ser877Thr) rs370269552
NM_000051.3(ATM):c.2634C>G (p.Thr878=) rs771444818
NM_000051.3(ATM):c.2635A>G (p.Ile879Val) rs556598169
NM_000051.3(ATM):c.2636T>C (p.Ile879Thr) rs746265230
NM_000051.3(ATM):c.2638+1del rs1131691153
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2638+3A>G rs876660552
NM_000051.3(ATM):c.2639-17G>T rs2234994
NM_000051.3(ATM):c.2639-384A>G rs1131691154
NM_000051.3(ATM):c.2647A>G (p.Asn883Asp) rs587782382
NM_000051.3(ATM):c.2649T>G (p.Asn883Lys) rs1555083093
NM_000051.3(ATM):c.264C>T (p.Ala88=) rs1555055190
NM_000051.3(ATM):c.2655A>T (p.Leu885Phe) rs730881351
NM_000051.3(ATM):c.2658T>C (p.Ala886=) rs1591593665
NM_000051.3(ATM):c.266C>T (p.Ser89Phe) rs375605135
NM_000051.3(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.3(ATM):c.2678A>G (p.Gln893Arg) rs876659776
NM_000051.3(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.3(ATM):c.2679A>T (p.Gln893His) rs139316519
NM_000051.3(ATM):c.2681A>T (p.Asp894Val) rs113482790
NM_000051.3(ATM):c.2685A>G (p.Leu895=) rs3218687
NM_000051.3(ATM):c.2688T>C (p.Leu896=) rs769490863
NM_000051.3(ATM):c.2689T>A (p.Phe897Ile) rs147122522
NM_000051.3(ATM):c.268A>G (p.Arg90Gly) rs868748140
NM_000051.3(ATM):c.2690T>C (p.Phe897Ser) rs876658373
NM_000051.3(ATM):c.2694A>T (p.Leu898Phe) rs774395596
NM_000051.3(ATM):c.2696A>G (p.Asp899Gly) rs1555083190
NM_000051.3(ATM):c.2697C>T (p.Asp899=) rs786202978
NM_000051.3(ATM):c.2698A>G (p.Met900Val) rs138468963
NM_000051.3(ATM):c.2699T>C (p.Met900Thr) rs863224558
NM_000051.3(ATM):c.2700G>A (p.Met900Ile) rs1591593939
NM_000051.3(ATM):c.2703C>G (p.Leu901=) rs1315907364
NM_000051.3(ATM):c.2703C>T (p.Leu901=) rs1315907364
NM_000051.3(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.3(ATM):c.2716T>C (p.Leu906=) rs368047468
NM_000051.3(ATM):c.2720G>T (p.Cys907Phe) rs775371838
NM_000051.3(ATM):c.2722G>A (p.Val908Ile) rs1190648236
NM_000051.3(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.3(ATM):c.2725A>T (p.Thr909Ser) rs786203175
NM_000051.3(ATM):c.2728A>G (p.Thr910Ala) rs1265391373
NM_000051.3(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.3(ATM):c.2736G>A (p.Gln912=) rs757305928
NM_000051.3(ATM):c.2741A>G (p.Asn914Ser) rs141947469
NM_000051.3(ATM):c.2742T>C (p.Asn914=) rs1057520522
NM_000051.3(ATM):c.2743A>G (p.Thr915Ala) rs786203106
NM_000051.3(ATM):c.2744C>A (p.Thr915Asn) rs876660912
NM_000051.3(ATM):c.2748G>T (p.Val916=) rs1050470790
NM_000051.3(ATM):c.2749dup (p.Ser917fs) rs1555083315
NM_000051.3(ATM):c.2751C>G (p.Ser917=) rs876659611
NM_000051.3(ATM):c.2754T>C (p.Phe918=) rs758955717
NM_000051.3(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.3(ATM):c.275A>C (p.Lys92Thr) rs200151849
NM_000051.3(ATM):c.2763T>C (p.Ala921=) rs1555083334
NM_000051.3(ATM):c.2764G>C (p.Asp922His) rs786201670
NM_000051.3(ATM):c.276A>G (p.Lys92=) rs786201137
NM_000051.3(ATM):c.2771G>A (p.Arg924Gln) rs587782298
NM_000051.3(ATM):c.2778A>G (p.Lys926=) rs372569168
NM_000051.3(ATM):c.2781G>T (p.Leu927Phe) rs770565353
NM_000051.3(ATM):c.2786T>C (p.Met929Thr) rs745737218
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.279G>A (p.Lys93=) rs368196317
NM_000051.3(ATM):c.2802C>G (p.Ser934Arg) rs876659788
NM_000051.3(ATM):c.2803A>G (p.Thr935Ala) rs35813135
NM_000051.3(ATM):c.2804C>A (p.Thr935Lys) rs3218708
NM_000051.3(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.2805G>A (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.3(ATM):c.2808A>G (p.Leu936=) rs547791214
NM_000051.3(ATM):c.280A>G (p.Met94Val) rs864622758
NM_000051.3(ATM):c.2812C>G (p.Pro938Ala) rs1415567368
NM_000051.3(ATM):c.2815A>G (p.Thr939Ala) rs864622606
NM_000051.3(ATM):c.2817C>G (p.Thr939=) rs1555083440
NM_000051.3(ATM):c.2817del (p.Lys940fs) rs1555083435
NM_000051.3(ATM):c.2819A>C (p.Lys940Thr) rs762078586
NM_000051.3(ATM):c.2819A>T (p.Lys940Ile) rs762078586
NM_000051.3(ATM):c.2822C>T (p.Ser941Phe) rs1188614092
NM_000051.3(ATM):c.2823C>A (p.Ser941=) rs750504746
NM_000051.3(ATM):c.2824C>T (p.Leu942Phe) rs3218688
NM_000051.3(ATM):c.2836A>C (p.Met946Leu) rs587781992
NM_000051.3(ATM):c.2836A>G (p.Met946Val) rs587781992
NM_000051.3(ATM):c.2838+1G>T rs1555083469
NM_000051.3(ATM):c.2838+4A>G rs876659907
NM_000051.3(ATM):c.2839-2A>G rs1060501703
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2839-4T>C rs1057522619
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2839-5C>A rs876660205
NM_000051.3(ATM):c.283C>A (p.Gln95Lys) rs587781545
NM_000051.3(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.3(ATM):c.2840A>G (p.Tyr947Cys) rs587779827
NM_000051.3(ATM):c.2848C>T (p.Leu950Phe) rs763064034
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.2859G>A (p.Glu953=) rs569489729
NM_000051.3(ATM):c.2865T>C (p.Pro955=) rs1555084654
NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.3(ATM):c.2874G>A (p.Glu958=) rs1555084671
NM_000051.3(ATM):c.2878C>A (p.Pro960Thr) rs876659412
NM_000051.3(ATM):c.2879C>T (p.Pro960Leu) rs587779828
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2882del (p.Leu961fs) rs587781805
NM_000051.3(ATM):c.2887A>G (p.Met963Val) rs374353016
NM_000051.3(ATM):c.2894A>T (p.Asp965Val) rs876658628
NM_000051.3(ATM):c.2895T>C (p.Asp965=) rs1424320755
NM_000051.3(ATM):c.2896G>A (p.Val966Ile) rs1060501598
NM_000051.3(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.3(ATM):c.28A>G (p.Ile10Val) rs876660671
NM_000051.3(ATM):c.2902G>T (p.Glu968Ter) rs1555084723
NM_000051.3(ATM):c.2908C>T (p.Leu970=) rs1060504260
NM_000051.3(ATM):c.2909T>A (p.Leu970Gln) rs587782521
NM_000051.3(ATM):c.290T>C (p.Ile97Thr) rs786203011
NM_000051.3(ATM):c.2912A>T (p.Lys971Ile) rs587781855
NM_000051.3(ATM):c.2912_2916del (p.Lys971fs) rs587781656
NM_000051.3(ATM):c.2915C>T (p.Pro972Leu) rs750093937
NM_000051.3(ATM):c.2917C>T (p.Leu973=) rs535646511
NM_000051.3(ATM):c.2918T>C (p.Leu973Pro) rs1555084757
NM_000051.3(ATM):c.2919A>G (p.Leu973=) rs587779829
NM_000051.3(ATM):c.291C>T (p.Ile97=) rs746762110
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.3(ATM):c.2921C>T (p.Ser974Phe) rs538105098
NM_000051.3(ATM):c.2922-4A>G rs1555084924
NM_000051.3(ATM):c.2922-5C>T rs1452462211
NM_000051.3(ATM):c.2922C>T (p.Ser974=) rs758045139
NM_000051.3(ATM):c.2924A>G (p.Asn975Ser) rs730881354
NM_000051.3(ATM):c.2925T>A (p.Asn975Lys) rs765848319
NM_000051.3(ATM):c.2925T>C (p.Asn975=) rs765848319
NM_000051.3(ATM):c.2930G>A (p.Cys977Tyr) rs876660628
NM_000051.3(ATM):c.2934T>G (p.Ser978=) rs368678134
NM_000051.3(ATM):c.2937G>C (p.Leu979Phe) rs1166904824
NM_000051.3(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.3(ATM):c.2941C>T (p.Arg981Cys) rs587780619
NM_000051.3(ATM):c.2942G>A (p.Arg981His) rs755896387
NM_000051.3(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.3(ATM):c.2947G>A (p.Asp983Asn) rs1060501560
NM_000051.3(ATM):c.2949C>T (p.Asp983=) rs1555085022
NM_000051.3(ATM):c.2954A>G (p.Asp985Gly) rs864622159
NM_000051.3(ATM):c.2954A>T (p.Asp985Val) rs864622159
NM_000051.3(ATM):c.2957T>C (p.Val986Ala) rs373225328
NM_000051.3(ATM):c.2958T>G (p.Val986=) rs745971584
NM_000051.3(ATM):c.2965del (p.Thr989fs) rs786203539
NM_000051.3(ATM):c.2967T>C (p.Thr989=) rs144145128
NM_000051.3(ATM):c.2972T>C (p.Leu991Ser) rs1227701474
NM_000051.3(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.3(ATM):c.2983C>G (p.Leu995Val) rs587779831
NM_000051.3(ATM):c.2983C>T (p.Leu995Phe) rs587779831
NM_000051.3(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.3(ATM):c.2989G>A (p.Val997Ile) rs1487902875
NM_000051.3(ATM):c.2990T>C (p.Val997Ala) rs1555085101
NM_000051.3(ATM):c.2991A>G (p.Val997=) rs1203368496
NM_000051.3(ATM):c.2992G>A (p.Val998Met) rs199635238
NM_000051.3(ATM):c.2994G>A (p.Val998=) rs1555085118
NM_000051.3(ATM):c.2999A>T (p.Asn1000Ile) rs1555085128
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3001C>G (p.Leu1001Val) rs377244521
NM_000051.3(ATM):c.3003A>C (p.Leu1001=) rs765969190
NM_000051.3(ATM):c.3003A>G (p.Leu1001=) rs765969190
NM_000051.3(ATM):c.3009A>G (p.Gln1003=) rs1555085154
NM_000051.3(ATM):c.3011G>A (p.Ser1004Asn) rs1060501696
NM_000051.3(ATM):c.3012C>T (p.Ser1004=) rs751260996
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3016A>G (p.Met1006Val) rs139893395
NM_000051.3(ATM):c.3017T>C (p.Met1006Thr) rs1421074475
NM_000051.3(ATM):c.301G>A (p.Val101Ile) rs758483894
NM_000051.3(ATM):c.3024T>G (p.Ser1008=) rs1060504274
NM_000051.3(ATM):c.3025G>T (p.Glu1009Ter) rs1064794039
NM_000051.3(ATM):c.3027G>A (p.Glu1009=) rs1060504299
NM_000051.3(ATM):c.3030C>T (p.Asn1010=) rs876660913
NM_000051.3(ATM):c.3031A>C (p.Thr1011Pro) rs959314809
NM_000051.3(ATM):c.3031A>G (p.Thr1011Ala) rs959314809
NM_000051.3(ATM):c.3032C>T (p.Thr1011Ile) rs1387785337
NM_000051.3(ATM):c.3038dup (p.Asp1013fs) rs1131691163
NM_000051.3(ATM):c.3040G>A (p.Ala1014Thr) rs587782163
NM_000051.3(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.3(ATM):c.3048A>G (p.Gly1016=) rs786203820
NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.3(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.3(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.3(ATM):c.3062T>G (p.Val1021Gly) rs786202399
NM_000051.3(ATM):c.3064A>G (p.Ile1022Val) rs786202470
NM_000051.3(ATM):c.3069A>G (p.Gly1023=) rs778984289
NM_000051.3(ATM):c.3070G>C (p.Ala1024Pro) rs1397754737
NM_000051.3(ATM):c.3071C>T (p.Ala1024Val) rs746133264
NM_000051.3(ATM):c.3077+1G>A rs192810283
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3077G>A (p.Trp1026Ter) rs587782103
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.3(ATM):c.3080A>C (p.His1027Pro) rs786204217
NM_000051.3(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.3(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.3(ATM):c.3088A>G (p.Lys1030Glu) rs863224561
NM_000051.3(ATM):c.3092A>G (p.Glu1031Gly) rs758708495
NM_000051.3(ATM):c.3093G>A (p.Glu1031=) rs1555085799
NM_000051.3(ATM):c.3102T>C (p.Tyr1034=) rs780240314
NM_000051.3(ATM):c.3106T>C (p.Phe1036Leu) rs747079458
NM_000051.3(ATM):c.3108C>T (p.Phe1036=) rs867514913
NM_000051.3(ATM):c.310T>C (p.Phe104Leu) rs1555055306
NM_000051.3(ATM):c.3112G>C (p.Val1038Leu) rs876659877
NM_000051.3(ATM):c.3113T>A (p.Val1038Glu) rs1555085827
NM_000051.3(ATM):c.3117A>G (p.Arg1039=) rs55784207
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3135C>T (p.Cys1045=) rs773577455
NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.3(ATM):c.3138T>G (p.Leu1046=) rs3092858
NM_000051.3(ATM):c.3139A>G (p.Lys1047Glu) rs587778071
NM_000051.3(ATM):c.3147G>T (p.Leu1049Phe) rs1060501686
NM_000051.3(ATM):c.3150T>C (p.Leu1050=) rs3092859
NM_000051.3(ATM):c.3152A>C (p.Glu1051Ala) rs876659217
NM_000051.3(ATM):c.3152A>G (p.Glu1051Gly) rs876659217
NM_000051.3(ATM):c.3154-2A>G rs730881357
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.3154-4G>T rs199543313
NM_000051.3(ATM):c.3155C>T (p.Ala1052Val) rs876660350
NM_000051.3(ATM):c.3157G>C (p.Asp1053His) rs876660172
NM_000051.3(ATM):c.3161C>A (p.Pro1054His) rs1800057
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.3172T>A (p.Trp1058Arg) rs1555085992
NM_000051.3(ATM):c.3174G>C (p.Trp1058Cys) rs1064796080
NM_000051.3(ATM):c.3175G>A (p.Ala1059Thr) rs370282831
NM_000051.3(ATM):c.3176C>T (p.Ala1059Val) rs761590782
NM_000051.3(ATM):c.3190A>G (p.Met1064Val) rs79431304
NM_000051.3(ATM):c.3191T>C (p.Met1064Thr) rs1160497775
NM_000051.3(ATM):c.3194G>A (p.Gly1065Glu) rs762810180
NM_000051.3(ATM):c.3196A>C (p.Lys1066Gln) rs1555086041
NM_000051.3(ATM):c.3204T>C (p.Phe1068=) rs1555086059
NM_000051.3(ATM):c.3208G>T (p.Val1070Leu) rs587780620
NM_000051.3(ATM):c.3212A>G (p.Asn1071Ser) rs755237639
NM_000051.3(ATM):c.3213T>C (p.Asn1071=) rs786203221
NM_000051.3(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687
NM_000051.3(ATM):c.3216A>G (p.Glu1072=) rs373699194
NM_000051.3(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.3(ATM):c.3219A>G (p.Val1073=) rs752849892
NM_000051.3(ATM):c.3228A>G (p.Gln1076=) rs1057522201
NM_000051.3(ATM):c.3229T>G (p.Phe1077Val) rs1555086111
NM_000051.3(ATM):c.322G>A (p.Ala108Thr) rs730881370
NM_000051.3(ATM):c.3235_3236delinsTT (p.Ala1079Phe) rs1555086120
NM_000051.3(ATM):c.3236C>G (p.Ala1079Gly) rs778233602
NM_000051.3(ATM):c.3237T>C (p.Ala1079=) rs564238520
NM_000051.3(ATM):c.323C>G (p.Ala108Gly) rs766951228
NM_000051.3(ATM):c.3242A>G (p.Asn1081Ser) rs368111672
NM_000051.3(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.3(ATM):c.3244C>T (p.His1082Tyr) rs1302626569
NM_000051.3(ATM):c.3249C>G (p.His1083Gln) rs1246816005
NM_000051.3(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.3(ATM):c.3257G>A (p.Arg1086His) rs769857066
NM_000051.3(ATM):c.3265G>T (p.Ala1089Ser) rs730881358
NM_000051.3(ATM):c.3269C>T (p.Ala1090Val) rs1591610246
NM_000051.3(ATM):c.3270A>G (p.Ala1090=) rs997005308
NM_000051.3(ATM):c.3273G>A (p.Glu1091=) rs762860946
NM_000051.3(ATM):c.3277A>G (p.Ile1093Val) rs876659667
NM_000051.3(ATM):c.3279_3280insT (p.Asn1094Ter) rs1131691155
NM_000051.3(ATM):c.3281A>G (p.Asn1094Ser) rs199883473
NM_000051.3(ATM):c.3283A>C (p.Arg1095=) rs876660302
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.3(ATM):c.3285-5T>C rs876659715
NM_000051.3(ATM):c.3291C>G (p.Phe1097Leu) rs876658491
NM_000051.3(ATM):c.3292C>G (p.Gln1098Glu) rs773964990
NM_000051.3(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.3(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.3(ATM):c.3295G>A (p.Asp1099Asn) rs372966951
NM_000051.3(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951
NM_000051.3(ATM):c.3300G>A (p.Thr1100=) rs587780621
NM_000051.3(ATM):c.3303G>A (p.Lys1101=) rs925487325
NM_000051.3(ATM):c.3304G>A (p.Gly1102Arg) rs147557621
NM_000051.3(ATM):c.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.3(ATM):c.3307G>A (p.Asp1103Asn) rs1555090114
NM_000051.3(ATM):c.3307G>C (p.Asp1103His) rs1555090114
NM_000051.3(ATM):c.3308A>G (p.Asp1103Gly) rs1555090118
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3311C>A (p.Ser1104Tyr) rs1555090126
NM_000051.3(ATM):c.3311C>G (p.Ser1104Cys) rs1555090126
NM_000051.3(ATM):c.332-1G>A rs747855862
NM_000051.3(ATM):c.332-3T>C rs376116157
NM_000051.3(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.3(ATM):c.3324G>C (p.Leu1108=) rs762269034
NM_000051.3(ATM):c.3328G>A (p.Ala1110Thr) rs147112946
NM_000051.3(ATM):c.3330A>G (p.Ala1110=) rs1009383081
NM_000051.3(ATM):c.3331C>G (p.Leu1111Val) rs587779832
NM_000051.3(ATM):c.3332T>C (p.Leu1111Pro) rs876658363
NM_000051.3(ATM):c.3334C>G (p.Pro1112Ala) rs876658963
NM_000051.3(ATM):c.3334C>T (p.Pro1112Ser) rs876658963
NM_000051.3(ATM):c.3335C>G (p.Pro1112Arg) rs1064795850
NM_000051.3(ATM):c.3335dup (p.Leu1113fs) rs876660031
NM_000051.3(ATM):c.3336T>A (p.Pro1112=) rs758784434
NM_000051.3(ATM):c.3340A>T (p.Lys1114Ter) rs1049900772
NM_000051.3(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3349C>T (p.Gln1117Ter) rs786201957
NM_000051.3(ATM):c.3351A>G (p.Gln1117=) rs777375945
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.3(ATM):c.3354A>G (p.Thr1118=) rs377316982
NM_000051.3(ATM):c.3355G>T (p.Ala1119Ser) rs786201956
NM_000051.3(ATM):c.3356C>A (p.Ala1119Asp) rs778882461
NM_000051.3(ATM):c.3356C>T (p.Ala1119Val) rs778882461
NM_000051.3(ATM):c.3362A>G (p.Glu1121Gly) rs876660607
NM_000051.3(ATM):c.3365A>G (p.Asn1122Ser) rs745863765
NM_000051.3(ATM):c.3369A>G (p.Ala1123=) rs587780543
NM_000051.3(ATM):c.3369del (p.Tyr1124fs) rs587781752
NM_000051.3(ATM):c.336A>T (p.Ala112=) rs777759909
NM_000051.3(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3378A>G (p.Lys1126=) rs149182949
NM_000051.3(ATM):c.337C>T (p.Pro113Ser) rs1060501678
NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3384G>A (p.Gln1128=) rs1565439537
NM_000051.3(ATM):c.3385G>A (p.Glu1129Lys) rs876658463
NM_000051.3(ATM):c.3388G>A (p.Gly1130Arg) rs587781911
NM_000051.3(ATM):c.3388G>T (p.Gly1130Ter) rs587781911
NM_000051.3(ATM):c.338C>T (p.Pro113Leu) rs876658324
NM_000051.3(ATM):c.3399A>C (p.Glu1133Asp) rs1555090364
NM_000051.3(ATM):c.33C>T (p.Cys11=) rs1555053901
NM_000051.3(ATM):c.3402+2T>C rs876659430
NM_000051.3(ATM):c.3402+3A>G rs786203688
NM_000051.3(ATM):c.3402+5T>C rs1057520229
NM_000051.3(ATM):c.3403-1G>A rs1555091120
NM_000051.3(ATM):c.3403-3A>C rs374866638
NM_000051.3(ATM):c.3410G>A (p.Ser1137Asn) rs876659633
NM_000051.3(ATM):c.3411T>C (p.Ser1137=) rs369518512
NM_000051.3(ATM):c.3415G>C (p.Glu1139Gln) rs786203048
NM_000051.3(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.3(ATM):c.3419del (p.Asn1140fs) rs1555091141
NM_000051.3(ATM):c.3427A>T (p.Thr1143Ser) rs1555091146
NM_000051.3(ATM):c.342G>A (p.Arg114=) rs1555059036
NM_000051.3(ATM):c.3430_3431del (p.Leu1144fs) rs1555091158
NM_000051.3(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.3(ATM):c.3437A>G (p.Glu1146Gly) rs1555091169
NM_000051.3(ATM):c.3439A>G (p.Ile1147Val) rs769853739
NM_000051.3(ATM):c.343C>T (p.Leu115=) rs1555059048
NM_000051.3(ATM):c.3446A>G (p.Asn1149Ser) rs1414846775
NM_000051.3(ATM):c.3447T>C (p.Asn1149=) rs763473729
NM_000051.3(ATM):c.3448A>C (p.Arg1150=) rs786201209
NM_000051.3(ATM):c.3449G>C (p.Arg1150Thr) rs555219189
NM_000051.3(ATM):c.344T>G (p.Leu115Arg) rs876659791
NM_000051.3(ATM):c.3450_3454del (p.Arg1150fs) rs1060501676
NM_000051.3(ATM):c.3451A>T (p.Lys1151Ter) rs1555091196
NM_000051.3(ATM):c.3467C>T (p.Thr1156Met) rs759951393
NM_000051.3(ATM):c.3468G>A (p.Thr1156=) rs148358896
NM_000051.3(ATM):c.3471G>A (p.Leu1157=) rs878853504
NM_000051.3(ATM):c.3473T>C (p.Ile1158Thr) rs1060501588
NM_000051.3(ATM):c.3478G>C (p.Val1160Leu) rs567344545
NM_000051.3(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.3(ATM):c.3489C>T (p.Ser1163=) rs864622097
NM_000051.3(ATM):c.3495C>A (p.Ser1165Arg) rs878853505
NM_000051.3(ATM):c.3495C>T (p.Ser1165=) rs878853505
NM_000051.3(ATM):c.3498T>C (p.Pro1166=) rs1555091273
NM_000051.3(ATM):c.3502T>C (p.Cys1168Arg) rs749933079
NM_000051.3(ATM):c.3504C>T (p.Cys1168=) rs876658368
NM_000051.3(ATM):c.3505G>A (p.Glu1169Lys) rs200765255
NM_000051.3(ATM):c.3507A>G (p.Glu1169=) rs1555091291
NM_000051.3(ATM):c.3508A>G (p.Lys1170Glu) rs1555091295
NM_000051.3(ATM):c.350G>A (p.Cys117Tyr) rs1555059066
NM_000051.3(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.3(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.3(ATM):c.3512A>C (p.Gln1171Pro) rs1555091325
NM_000051.3(ATM):c.3514G>C (p.Ala1172Pro) rs779946941
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.3519G>C (p.Leu1173Phe) rs1565442034
NM_000051.3(ATM):c.3520T>G (p.Phe1174Val) rs547400704
NM_000051.3(ATM):c.3521T>C (p.Phe1174Ser) rs1416574870
NM_000051.3(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.3(ATM):c.3527T>G (p.Leu1176Arg) rs587782762
NM_000051.3(ATM):c.3528G>T (p.Leu1176=) rs748335454
NM_000051.3(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.3(ATM):c.3531T>C (p.Cys1177=) rs876659546
NM_000051.3(ATM):c.3532A>G (p.Lys1178Glu) rs1555091359
NM_000051.3(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3544G>C (p.Glu1182Gln) rs377349886
NM_000051.3(ATM):c.3545A>T (p.Glu1182Val) rs1555091393
NM_000051.3(ATM):c.3549T>C (p.Asn1183=) rs767377764
NM_000051.3(ATM):c.3550G>A (p.Gly1184Arg) rs1555091402
NM_000051.3(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.3(ATM):c.3558A>T (p.Glu1186Asp) rs12786957
NM_000051.3(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.3(ATM):c.3568G>C (p.Val1190Leu) rs876660708
NM_000051.3(ATM):c.3576+1G>A rs876660621
NM_000051.3(ATM):c.3576+1G>T rs876660621
NM_000051.3(ATM):c.3577-3C>A rs876659700
NM_000051.3(ATM):c.3577-5T>C rs1555092229
NM_000051.3(ATM):c.3577G>A (p.Val1193Ile) rs779148780
NM_000051.3(ATM):c.3579T>G (p.Val1193=) rs1555092241
NM_000051.3(ATM):c.3584A>G (p.Glu1195Gly) rs1167713135
NM_000051.3(ATM):c.3588A>G (p.Lys1196=) rs376524625
NM_000051.3(ATM):c.3590T>C (p.Val1197Ala) rs1555092259
NM_000051.3(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.3(ATM):c.3601T>A (p.Phe1201Ile) rs576884305
NM_000051.3(ATM):c.3602T>C (p.Phe1201Ser) rs1565444496
NM_000051.3(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.3(ATM):c.3605G>C (p.Gly1202Ala) rs1555092285
NM_000051.3(ATM):c.3608A>G (p.Tyr1203Cys) rs1453849799
NM_000051.3(ATM):c.360C>G (p.Leu120=) rs749489010
NM_000051.3(ATM):c.360C>T (p.Leu120=) rs749489010
NM_000051.3(ATM):c.3611G>A (p.Arg1204Lys) rs786203066
NM_000051.3(ATM):c.3613C>T (p.Arg1205Cys) rs760928285
NM_000051.3(ATM):c.3614G>A (p.Arg1205His) rs769106895
NM_000051.3(ATM):c.3617_3621delinsG (p.Leu1206fs) rs876660783
NM_000051.3(ATM):c.3618A>G (p.Leu1206=) rs786201151
NM_000051.3(ATM):c.361T>A (p.Leu121Ile) rs587782178
NM_000051.3(ATM):c.3625T>A (p.Phe1209Ile) rs1555092334
NM_000051.3(ATM):c.3627T>C (p.Phe1209=) rs762605020
NM_000051.3(ATM):c.3627del (p.Phe1209fs) rs587782861
NM_000051.3(ATM):c.3628A>G (p.Met1210Val) rs138212452
NM_000051.3(ATM):c.362T>A (p.Leu121Ter) rs771342315
NM_000051.3(ATM):c.3630G>A (p.Met1210Ile) rs587778073
NM_000051.3(ATM):c.3630_3631delinsTT (p.Met1210_Ala1211delinsIleSer) rs1555092353
NM_000051.3(ATM):c.3639T>C (p.His1213=) rs142766756
NM_000051.3(ATM):c.365A>C (p.Asn122Thr) rs1060501596
NM_000051.3(ATM):c.3660A>G (p.Glu1220=) rs876660835
NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter) rs864622490
NM_000051.3(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.3(ATM):c.366T>C (p.Asn122=) rs1178025248
NM_000051.3(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.3(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis) rs1064795822
NM_000051.3(ATM):c.3676G>C (p.Asp1226His) rs370974808
NM_000051.3(ATM):c.3677A>T (p.Asp1226Val) rs1555092445
NM_000051.3(ATM):c.3680C>A (p.Thr1227Asn) rs1229454563
NM_000051.3(ATM):c.3689A>G (p.Asn1230Ser) rs587782195
NM_000051.3(ATM):c.368A>G (p.Tyr123Cys) rs759673348
NM_000051.3(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.3(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389
NM_000051.3(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.3(ATM):c.3702T>G (p.Phe1234Leu) rs876659605
NM_000051.3(ATM):c.3703C>T (p.Pro1235Ser) rs779095853
NM_000051.3(ATM):c.3704del (p.Pro1235fs) rs876658455
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.3(ATM):c.3721_3723del (p.Tyr1241del) rs1555092538
NM_000051.3(ATM):c.3722A>T (p.Tyr1241Phe) rs587782688
NM_000051.3(ATM):c.3725C>G (p.Thr1242Arg) rs1266811647
NM_000051.3(ATM):c.3728A>G (p.Asn1243Ser) rs730881363
NM_000051.3(ATM):c.372C>A (p.Ile124=) rs773495195
NM_000051.3(ATM):c.3735G>A (p.Glu1245=) rs1565445196
NM_000051.3(ATM):c.373A>G (p.Met125Val) rs761137313
NM_000051.3(ATM):c.3742T>G (p.Tyr1248Asp) rs1180341161
NM_000051.3(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370
NM_000051.3(ATM):c.3744T>C (p.Tyr1248=) rs1555092589
NM_000051.3(ATM):c.3746+4A>G rs1555092593
NM_000051.3(ATM):c.3746+5G>A rs876658419
NM_000051.3(ATM):c.3747-1G>C rs730881364
NM_000051.3(ATM):c.3748T>A (p.Ser1250Thr) rs1555093268
NM_000051.3(ATM):c.3754_3755TA[3] (p.Lys1253fs) rs1555093289
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3760del (p.Val1254fs) rs786203507
NM_000051.3(ATM):c.3766A>T (p.Ile1256Phe) rs1030517820
NM_000051.3(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.3(ATM):c.3773A>G (p.His1258Arg) rs1555093334
NM_000051.3(ATM):c.3774T>A (p.His1258Gln) rs786203114
NM_000051.3(ATM):c.3777G>A (p.Leu1259=) rs780192529
NM_000051.3(ATM):c.3778G>A (p.Val1260Met) rs587782035
NM_000051.3(ATM):c.3780dup (p.Ile1261fs) rs786202694
NM_000051.3(ATM):c.3785G>A (p.Arg1262Lys) rs786203618
NM_000051.3(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.3793T>C (p.Phe1265Leu) rs371526361
NM_000051.3(ATM):c.3793T>G (p.Phe1265Val) rs371526361
NM_000051.3(ATM):c.379A>G (p.Thr127Ala) rs587781741
NM_000051.3(ATM):c.379A>T (p.Thr127Ser) rs587781741
NM_000051.3(ATM):c.37C>T (p.Arg13Cys) rs141586345
NM_000051.3(ATM):c.3802G>A (p.Val1268Met) rs863224564
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.3811A>G (p.Ile1271Val) rs1555093407
NM_000051.3(ATM):c.3812T>G (p.Ile1271Ser) rs1308232635
NM_000051.3(ATM):c.3813T>C (p.Ile1271=) rs1057522326
NM_000051.3(ATM):c.3817A>G (p.Asn1273Asp) rs876660767
NM_000051.3(ATM):c.381A>G (p.Thr127=) rs762582522
NM_000051.3(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.3(ATM):c.3831G>A (p.Glu1277=) rs587781787
NM_000051.3(ATM):c.3831G>C (p.Glu1277Asp) rs587781787
NM_000051.3(ATM):c.3832G>A (p.Asp1278Asn) rs730881365
NM_000051.3(ATM):c.3834C>A (p.Asp1278Glu) rs534864280
NM_000051.3(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.3(ATM):c.3841A>T (p.Ser1281Cys) rs370785959
NM_000051.3(ATM):c.3842G>A (p.Ser1281Asn) rs1064797161
NM_000051.3(ATM):c.3843T>G (p.Ser1281Arg) rs863224565
NM_000051.3(ATM):c.3844C>A (p.Leu1282Ile) rs876660568
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.3(ATM):c.3851C>G (p.Thr1284Arg) rs1200767902
NM_000051.3(ATM):c.3857G>T (p.Cys1286Phe) rs876660770
NM_000051.3(ATM):c.3865A>T (p.Lys1289Ter) rs1131691160
NM_000051.3(ATM):c.3866A>G (p.Lys1289Arg) rs876660633
NM_000051.3(ATM):c.3872T>G (p.Leu1291Arg) rs1555093536
NM_000051.3(ATM):c.3875T>C (p.Val1292Ala) rs1555093556
NM_000051.3(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.3(ATM):c.3880A>T (p.Ile1294Phe) rs1478504213
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.3(ATM):c.3886_3888delinsACA (p.Pro1296Thr) rs876660859
NM_000051.3(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.3(ATM):c.3895del (p.Ala1299fs) rs786203501
NM_000051.3(ATM):c.3896C>T (p.Ala1299Val) rs786203287
NM_000051.3(ATM):c.3897C>G (p.Ala1299=) rs760491475
NM_000051.3(ATM):c.3897C>T (p.Ala1299=) rs760491475
NM_000051.3(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185
NM_000051.3(ATM):c.389A>G (p.Asp130Gly) rs766034066
NM_000051.3(ATM):c.38G>A (p.Arg13His) rs778201041
NM_000051.3(ATM):c.38G>T (p.Arg13Leu) rs778201041
NM_000051.3(ATM):c.3907A>G (p.Thr1303Ala) rs1060501662
NM_000051.3(ATM):c.3915C>T (p.Asp1305=) rs1429663437
NM_000051.3(ATM):c.3918T>C (p.Ser1306=) rs139632347
NM_000051.3(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.3(ATM):c.391T>C (p.Ser131Pro) rs876658263
NM_000051.3(ATM):c.3921G>A (p.Gly1307=) rs969461745
NM_000051.3(ATM):c.3923T>C (p.Met1308Thr) rs1555093651
NM_000051.3(ATM):c.392C>A (p.Ser131Ter) rs1363726955
NM_000051.3(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.3(ATM):c.3931C>T (p.Gln1311Ter) rs200976093
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3937G>C (p.Glu1313Gln) rs3092841
NM_000051.3(ATM):c.3938A>G (p.Glu1313Gly) rs1555093695
NM_000051.3(ATM):c.3941C>T (p.Thr1314Ile) rs751678973
NM_000051.3(ATM):c.3946A>G (p.Thr1316Ala) rs1555093708
NM_000051.3(ATM):c.394T>C (p.Ser132Pro) rs786203851
NM_000051.3(ATM):c.3952G>T (p.Val1318Phe) rs587778074
NM_000051.3(ATM):c.3956A>G (p.Tyr1319Cys) rs1424433891
NM_000051.3(ATM):c.3961A>G (p.Met1321Val) rs730881366
NM_000051.3(ATM):c.3962T>C (p.Met1321Thr) rs928038643
NM_000051.3(ATM):c.3963G>A (p.Met1321Ile) rs35184530
NM_000051.3(ATM):c.3964C>A (p.Leu1322Ile) rs144535256
NM_000051.3(ATM):c.3965T>A (p.Leu1322His) rs786203306
NM_000051.3(ATM):c.3965T>C (p.Leu1322Pro) rs786203306
NM_000051.3(ATM):c.3977A>G (p.Asn1326Ser) rs878853507
NM_000051.3(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.3(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.3(ATM):c.3982T>C (p.Leu1328=) rs876658204
NM_000051.3(ATM):c.398A>G (p.Asn133Ser) rs730881330
NM_000051.3(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.3(ATM):c.3992A>G (p.Gln1331Arg) rs876658669
NM_000051.3(ATM):c.3993+10C>T rs587782262
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.3(ATM):c.3994-159A>G rs864622543
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.3995T>G (p.Ile1332Ser) rs1064793805
NM_000051.3(ATM):c.3996T>G (p.Ile1332Met) rs1180449859
NM_000051.3(ATM):c.3998A>T (p.Asp1333Val) rs746709782
NM_000051.3(ATM):c.399T>A (p.Asn133Lys) rs1555059218
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4001A>G (p.His1334Arg) rs780865776
NM_000051.3(ATM):c.4002C>T (p.His1334=) rs876659622
NM_000051.3(ATM):c.4008C>T (p.Phe1336=) rs748055132
NM_000051.3(ATM):c.400G>A (p.Gly134Ser) rs2234998
NM_000051.3(ATM):c.4010T>A (p.Ile1337Asn) rs1060501660
NM_000051.3(ATM):c.4010T>C (p.Ile1337Thr) rs1060501660
NM_000051.3(ATM):c.4018T>C (p.Leu1340=) rs1057522187
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.401G>A (p.Gly134Asp) rs771166271
NM_000051.3(ATM):c.4020A>G (p.Leu1340=) rs1555095888
NM_000051.3(ATM):c.4023A>T (p.Pro1341=) rs1020202983
NM_000051.3(ATM):c.4032G>C (p.Val1344=) rs769871715
NM_000051.3(ATM):c.4036G>T (p.Glu1346Ter) rs1060501528
NM_000051.3(ATM):c.4038G>A (p.Glu1346=) rs1591655790
NM_000051.3(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.3(ATM):c.4042T>C (p.Leu1348=) rs56355831
NM_000051.3(ATM):c.4049C>T (p.Thr1350Met) rs587781785
NM_000051.3(ATM):c.404C>G (p.Ala135Gly) rs1555059254
NM_000051.3(ATM):c.4050G>A (p.Thr1350=) rs770697446
NM_000051.3(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.3(ATM):c.4055A>G (p.His1352Arg) rs925124248
NM_000051.3(ATM):c.4056T>C (p.His1352=) rs587780622
NM_000051.3(ATM):c.4058A>G (p.Glu1353Gly) rs917721053
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4070C>A (p.Ser1357Tyr) rs730881390
NM_000051.3(ATM):c.4071T>C (p.Ser1357=) rs767516955
NM_000051.3(ATM):c.4075G>A (p.Ala1359Thr) rs1591656042
NM_000051.3(ATM):c.4077C>G (p.Ala1359=) rs375606854
NM_000051.3(ATM):c.4079G>A (p.Ser1360Asn) rs764564211
NM_000051.3(ATM):c.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.3(ATM):c.4092C>A (p.Asp1364Glu) rs876660956
NM_000051.3(ATM):c.4092C>T (p.Asp1364=) rs876660956
NM_000051.3(ATM):c.4093_4094CT[3] (p.Cys1366fs) rs1555096057
NM_000051.3(ATM):c.4101C>T (p.Asp1367=) rs587780623
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4109+4T>C rs754706599
NM_000051.3(ATM):c.410A>T (p.Tyr137Phe) rs547082881
NM_000051.3(ATM):c.4110-1G>A rs1060501692
NM_000051.3(ATM):c.4110-4T>C rs777186156
NM_000051.3(ATM):c.4110-4T>G rs777186156
NM_000051.3(ATM):c.4110-9C>G rs730881367
NM_000051.3(ATM):c.4111delG rs797045114
NM_000051.3(ATM):c.4114T>C (p.Leu1372=) rs762242838
NM_000051.3(ATM):c.411C>T (p.Tyr137=) rs756160533
NM_000051.3(ATM):c.4120C>T (p.Pro1374Ser) rs749215545
NM_000051.3(ATM):c.4125T>A (p.Ala1375=) rs1555096804
NM_000051.3(ATM):c.4127C>G (p.Pro1376Arg) rs786202406
NM_000051.3(ATM):c.412G>A (p.Gly138Arg) rs150661813
NM_000051.3(ATM):c.4133C>T (p.Pro1378Leu) rs750771205
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4141T>C (p.Phe1381Leu) rs1555096841
NM_000051.3(ATM):c.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.3(ATM):c.4146A>G (p.Pro1382=) rs147738621
NM_000051.3(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.3(ATM):c.4149G>A (p.Ser1383=) rs749180334
NM_000051.3(ATM):c.4150C>A (p.His1384Asn) rs876660576
NM_000051.3(ATM):c.4151A>C (p.His1384Pro) rs757172522
NM_000051.3(ATM):c.4152T>C (p.His1384=) rs1555096888
NM_000051.3(ATM):c.4153G>T (p.Val1385Leu) rs1064794484
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4175A>G (p.Tyr1392Cys) rs876658239
NM_000051.3(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.3(ATM):c.4179C>T (p.Ile1393=) rs775688446
NM_000051.3(ATM):c.418G>C (p.Asp140His) rs55633650
NM_000051.3(ATM):c.4195A>G (p.Thr1399Ala) rs1555096955
NM_000051.3(ATM):c.4196C>A (p.Thr1399Asn) rs786203761
NM_000051.3(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.3(ATM):c.4198A>T (p.Lys1400Ter) rs587781950
NM_000051.3(ATM):c.4201T>A (p.Leu1401Ile) rs587779838
NM_000051.3(ATM):c.4209C>T (p.Ser1403=) rs876658701
NM_000051.3(ATM):c.4210A>G (p.Ile1404Val) rs786201832
NM_000051.3(ATM):c.421T>G (p.Cys141Gly) rs1565357020
NM_000051.3(ATM):c.4222C>T (p.Leu1408Phe) rs1565455224
NM_000051.3(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.3(ATM):c.422G>A (p.Cys141Tyr) rs745890227
NM_000051.3(ATM):c.4235C>T (p.Pro1412Leu) rs776581499
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4237G>A (p.Asp1413Asn) rs1337392659
NM_000051.3(ATM):c.4237G>T (p.Asp1413Tyr) rs1337392659
NM_000051.3(ATM):c.4241C>G (p.Ser1414Cys) rs876659292
NM_000051.3(ATM):c.4244A>G (p.Tyr1415Cys) rs876660540
NM_000051.3(ATM):c.4247A>G (p.Gln1416Arg) rs758180727
NM_000051.3(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.425G>A (p.Ser142Asn) rs755618506
NM_000051.3(ATM):c.4263C>T (p.Ala1421=) rs1373073134
NM_000051.3(ATM):c.4264A>G (p.Ile1422Val) rs562445932
NM_000051.3(ATM):c.4265T>C (p.Ile1422Thr) rs876659764
NM_000051.3(ATM):c.4267T>A (p.Cys1423Ser) rs587782442
NM_000051.3(ATM):c.4267T>C (p.Cys1423Arg) rs587782442
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.427A>G (p.Asn143Asp) rs587781688
NM_000051.3(ATM):c.4281T>C (p.Ala1427=) rs876659745
NM_000051.3(ATM):c.4284A>C (p.Glu1428Asp) rs1555097441
NM_000051.3(ATM):c.4289A>G (p.Asn1430Ser) rs876658870
NM_000051.3(ATM):c.4295T>G (p.Val1432Gly) rs1131691150
NM_000051.3(ATM):c.4297T>G (p.Tyr1433Asp) rs876659559
NM_000051.3(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.3(ATM):c.42A>G (p.Gln14=) rs771378101
NM_000051.3(ATM):c.4302G>A (p.Lys1434=) rs876658751
NM_000051.3(ATM):c.4303A>C (p.Lys1435Gln) rs876660964
NM_000051.3(ATM):c.4304A>C (p.Lys1435Thr) rs769980220
NM_000051.3(ATM):c.4304A>G (p.Lys1435Arg) rs769980220
NM_000051.3(ATM):c.4306C>T (p.His1436Tyr) rs544891616
NM_000051.3(ATM):c.4311A>T (p.Arg1437Ser) rs1555097507
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.4323A>G (p.Ile1441Met) rs587779839
NM_000051.3(ATM):c.4323A>T (p.Ile1441=) rs587779839
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4329C>A (p.His1443Gln) rs377065665
NM_000051.3(ATM):c.4332G>A (p.Leu1444=) rs753570046
NM_000051.3(ATM):c.4332G>C (p.Leu1444=) rs753570046
NM_000051.3(ATM):c.4333T>C (p.Phe1445Leu) rs1060501683
NM_000051.3(ATM):c.4335dup (p.Val1446fs) rs1555097571
NM_000051.3(ATM):c.433C>A (p.Leu145Ile) rs587782328
NM_000051.3(ATM):c.433C>T (p.Leu145=) rs587782328
NM_000051.3(ATM):c.4345T>C (p.Leu1449=) rs786201555
NM_000051.3(ATM):c.4347A>C (p.Leu1449Phe) rs764787081
NM_000051.3(ATM):c.4354G>C (p.Asp1452His) rs1012695949
NM_000051.3(ATM):c.4358T>G (p.Ile1453Arg) rs587782126
NM_000051.3(ATM):c.4359_4363del (p.Ile1453fs) rs587782863
NM_000051.3(ATM):c.435A>G (p.Leu145=) rs775476710
NM_000051.3(ATM):c.4361A>G (p.Lys1454Arg) rs1451928082
NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.3(ATM):c.4365T>A (p.Ser1455Arg) rs527471560
NM_000051.3(ATM):c.4368C>G (p.Gly1456=) rs1555097677
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.3(ATM):c.4375G>A (p.Gly1459Arg) rs145667735
NM_000051.3(ATM):c.4378G>T (p.Ala1460Ser) rs1060501675
NM_000051.3(ATM):c.4389T>C (p.Phe1463=) rs1555097753
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4396C>G (p.Arg1466Gly) rs730881369
NM_000051.3(ATM):c.4397G>A (p.Arg1466Gln) rs749770110
NM_000051.3(ATM):c.4398A>G (p.Arg1466=) rs142728382
NM_000051.3(ATM):c.439A>G (p.Lys147Glu) rs587782509
NM_000051.3(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.3(ATM):c.4400A>G (p.Asp1467Gly) rs730881392
NM_000051.3(ATM):c.4401C>T (p.Asp1467=) rs876660356
NM_000051.3(ATM):c.4404T>C (p.Val1468=) rs1555097801
NM_000051.3(ATM):c.4410T>C (p.Tyr1470=) rs1057521912
NM_000051.3(ATM):c.4416G>A (p.Leu1472=) rs201526888
NM_000051.3(ATM):c.441dup (p.Asp148fs) rs1427164968
NM_000051.3(ATM):c.4420C>A (p.His1474Asn) rs587779840
NM_000051.3(ATM):c.4420C>G (p.His1474Asp) rs587779840
NM_000051.3(ATM):c.4428C>G (p.Ile1476Met) rs876659370
NM_000051.3(ATM):c.442dup (p.Asp148fs) rs1555059380
NM_000051.3(ATM):c.4431C>A (p.Asn1477Lys) rs571989748
NM_000051.3(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.3(ATM):c.4436+2T>C rs1555097898
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4437-5A>G rs876658290
NM_000051.3(ATM):c.4442C>T (p.Ser1481Phe) rs863224572
NM_000051.3(ATM):c.4444T>C (p.Cys1482Arg) rs752559455
NM_000051.3(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352
NM_000051.3(ATM):c.4445G>C (p.Cys1482Ser) rs201277352
NM_000051.3(ATM):c.4449C>T (p.Ile1483=) rs786203726
NM_000051.3(ATM):c.4451T>C (p.Met1484Thr) rs786203785
NM_000051.3(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.3(ATM):c.4454A>G (p.Asp1485Gly) rs1555099762
NM_000051.3(ATM):c.4456G>C (p.Val1486Leu) rs786203352
NM_000051.3(ATM):c.4456G>T (p.Val1486Leu) rs786203352
NM_000051.3(ATM):c.445A>G (p.Ile149Val) rs1565357194
NM_000051.3(ATM):c.4465C>T (p.Arg1489Cys) rs754181173
NM_000051.3(ATM):c.4466G>A (p.Arg1489His) rs201594549
NM_000051.3(ATM):c.4467T>C (p.Arg1489=) rs746296827
NM_000051.3(ATM):c.4468A>G (p.Ser1490Gly) rs876658711
NM_000051.3(ATM):c.446T>A (p.Ile149Asn) rs587782353
NM_000051.3(ATM):c.4471T>C (p.Phe1491Leu) rs587781944
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4477C>T (p.Leu1493Phe) rs377595814
NM_000051.3(ATM):c.4480T>C (p.Cys1494Arg) rs1060501576
NM_000051.3(ATM):c.4482T>C (p.Cys1494=) rs769071554
NM_000051.3(ATM):c.4488C>T (p.Asp1496=) rs772833802
NM_000051.3(ATM):c.448C>G (p.Leu150Val) rs1555059404
NM_000051.3(ATM):c.4492T>C (p.Leu1498=) rs748949478
NM_000051.3(ATM):c.4493T>C (p.Leu1498Ser) rs1329359780
NM_000051.3(ATM):c.4496G>C (p.Ser1499Thr) rs1222314846
NM_000051.3(ATM):c.4499A>G (p.Gln1500Arg) rs786203789
NM_000051.3(ATM):c.4500G>A (p.Gln1500=) rs1345605814
NM_000051.3(ATM):c.4501G>T (p.Val1501Phe) rs370574283
NM_000051.3(ATM):c.4505G>T (p.Cys1502Phe) rs759340881
NM_000051.3(ATM):c.4506C>T (p.Cys1502=) rs876659908
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.4508A>G (p.Gln1503Arg) rs1555099858
NM_000051.3(ATM):c.4515C>A (p.Ala1505=) rs540798997
NM_000051.3(ATM):c.4515C>T (p.Ala1505=) rs540798997
NM_000051.3(ATM):c.4516G>A (p.Val1506Met) rs760542469
NM_000051.3(ATM):c.4518G>A (p.Val1506=) rs1057524110
NM_000051.3(ATM):c.4521T>G (p.Thr1507=) rs1555099885
NM_000051.3(ATM):c.4524C>T (p.Tyr1508=) rs1555099892
NM_000051.3(ATM):c.4529A>G (p.Lys1510Arg) rs1208799683
NM_000051.3(ATM):c.4532A>T (p.Asp1511Val) rs1591674356
NM_000051.3(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.3(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.3(ATM):c.4546C>T (p.His1516Tyr) rs1389372050
NM_000051.3(ATM):c.4547A>G (p.His1516Arg) rs1565461434
NM_000051.3(ATM):c.4549C>T (p.Leu1517Phe) rs754058482
NM_000051.3(ATM):c.454del (p.Ser151_Val152insTer) rs1555059421
NM_000051.3(ATM):c.4551T>A (p.Leu1517=) rs1459998980
NM_000051.3(ATM):c.4551T>C (p.Leu1517=) rs1459998980
NM_000051.3(ATM):c.4553A>C (p.His1518Pro) rs762132832
NM_000051.3(ATM):c.4559T>C (p.Ile1520Thr) rs375654664
NM_000051.3(ATM):c.4561G>C (p.Val1521Leu) rs141329176
NM_000051.3(ATM):c.4562T>C (p.Val1521Ala) rs786202673
NM_000051.3(ATM):c.4564G>A (p.Gly1522Ser) rs1064795495
NM_000051.3(ATM):c.456G>T (p.Val152=) rs1555059433
NM_000051.3(ATM):c.4570C>G (p.Leu1524Val) rs780603110
NM_000051.3(ATM):c.4570C>T (p.Leu1524Phe) rs780603110
NM_000051.3(ATM):c.4574T>C (p.Ile1525Thr) rs755274980
NM_000051.3(ATM):c.4575A>T (p.Ile1525=) rs781539071
NM_000051.3(ATM):c.4576C>A (p.Pro1526Thr) rs748898098
NM_000051.3(ATM):c.4576C>T (p.Pro1526Ser) rs748898098
NM_000051.3(ATM):c.4577C>A (p.Pro1526His) rs770590652
NM_000051.3(ATM):c.4577C>T (p.Pro1526Leu) rs770590652
NM_000051.3(ATM):c.4579C>G (p.Leu1527Val) rs1555099997
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4593G>A (p.Gln1531=) rs1591674814
NM_000051.3(ATM):c.4606A>G (p.Lys1536Glu) rs587779841
NM_000051.3(ATM):c.4612-4T>G rs569983068
NM_000051.3(ATM):c.4615T>C (p.Leu1539=) rs976206782
NM_000051.3(ATM):c.4620C>T (p.Asp1540=) rs1329153013
NM_000051.3(ATM):c.4623G>T (p.Leu1541Phe) rs3092849
NM_000051.3(ATM):c.4624T>C (p.Leu1542=) rs876658826
NM_000051.3(ATM):c.4626G>A (p.Leu1542=) rs786202784
NM_000051.3(ATM):c.4629A>G (p.Lys1543=) rs745565564
NM_000051.3(ATM):c.462A>G (p.Lys154=) rs876659923
NM_000051.3(ATM):c.4630T>C (p.Tyr1544His) rs771554153
NM_000051.3(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362
NM_000051.3(ATM):c.4639A>G (p.Ile1547Val) rs537377433
NM_000051.3(ATM):c.463T>G (p.Tyr155Asp) rs1555059450
NM_000051.3(ATM):c.4640T>C (p.Ile1547Thr) rs1555100432
NM_000051.3(ATM):c.4648A>G (p.Lys1550Glu) rs1555100449
NM_000051.3(ATM):c.4650G>T (p.Lys1550Asn) rs876660003
NM_000051.3(ATM):c.4652A>G (p.Asp1551Gly) rs1555100455
NM_000051.3(ATM):c.4656T>C (p.Asn1552=) rs876658379
NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) rs587778075
NM_000051.3(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.3(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
NM_000051.3(ATM):c.4666T>C (p.Tyr1556His) rs587781320
NM_000051.3(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037
NM_000051.3(ATM):c.4668T>C (p.Tyr1556=) rs766438805
NM_000051.3(ATM):c.4673C>T (p.Thr1558Met) rs587781712
NM_000051.3(ATM):c.4674G>A (p.Thr1558=) rs876658474
NM_000051.3(ATM):c.4677T>A (p.Ile1559=) rs759660081
NM_000051.3(ATM):c.4677T>C (p.Ile1559=) rs759660081
NM_000051.3(ATM):c.467G>C (p.Trp156Ser) rs876658159
NM_000051.3(ATM):c.4687G>A (p.Asp1563Asn) rs1464587365
NM_000051.3(ATM):c.4699G>A (p.Asp1567Asn) rs876659069
NM_000051.3(ATM):c.469T>G (p.Cys157Gly) rs1248850168
NM_000051.3(ATM):c.4702C>T (p.His1568Tyr) rs753269143
NM_000051.3(ATM):c.4703A>G (p.His1568Arg) rs368830730
NM_000051.3(ATM):c.4706T>A (p.Val1569Asp) rs1555100549
NM_000051.3(ATM):c.4713T>C (p.Phe1571=) rs750027746
NM_000051.3(ATM):c.4716G>C (p.Lys1572Asn) rs786203953
NM_000051.3(ATM):c.4724G>A (p.Arg1575His) rs550552791
NM_000051.3(ATM):c.4725T>C (p.Arg1575=) rs1555100576
NM_000051.3(ATM):c.4731T>C (p.Thr1577=) rs145236132
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.3(ATM):c.4746A>G (p.Lys1582=) rs1555100593
NM_000051.3(ATM):c.4749C>T (p.Tyr1583=) rs1555100597
NM_000051.3(ATM):c.4752T>C (p.Ser1584=) rs1555100601
NM_000051.3(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.3(ATM):c.4756G>A (p.Gly1586Arg) rs1565463314
NM_000051.3(ATM):c.4759C>G (p.Pro1587Ala) rs786202473
NM_000051.3(ATM):c.475del (p.Ile159fs) rs1555059464
NM_000051.3(ATM):c.4768C>T (p.Leu1590Phe) rs35962982
NM_000051.3(ATM):c.4770C>T (p.Leu1590=) rs749475519
NM_000051.3(ATM):c.4773G>C (p.Leu1591Phe) rs1345760669
NM_000051.3(ATM):c.4774G>T (p.Glu1592Ter) rs876658587
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.3(ATM):c.4776G>C (p.Glu1592Asp) rs786202973
NM_000051.3(ATM):c.4777-20A>G rs3218678
NM_000051.3(ATM):c.4777-3T>C rs1468242174
NM_000051.3(ATM):c.4777-4T>C rs756025941
NM_000051.3(ATM):c.4779A>G (p.Glu1593=) rs587778076
NM_000051.3(ATM):c.477A>G (p.Ile159Met) rs786202644
NM_000051.3(ATM):c.4780A>G (p.Ile1594Val) rs1555101615
NM_000051.3(ATM):c.4781T>C (p.Ile1594Thr) rs1555101621
NM_000051.3(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.3(ATM):c.4786C>G (p.His1596Asp) rs1555101635
NM_000051.3(ATM):c.478T>C (p.Ser160Pro) rs761170769
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4792C>A (p.Leu1598Ile) rs375190373
NM_000051.3(ATM):c.4797A>C (p.Ser1599=) rs1371876868
NM_000051.3(ATM):c.479C>T (p.Ser160Phe) rs35858242
NM_000051.3(ATM):c.4801A>G (p.Ser1601Gly) rs876660520
NM_000051.3(ATM):c.4803T>C (p.Ser1601=) rs964364958
NM_000051.3(ATM):c.4807T>C (p.Tyr1603His) rs994121421
NM_000051.3(ATM):c.4814C>T (p.Ala1605Val) rs786203520
NM_000051.3(ATM):c.4817T>G (p.Leu1606Arg) rs1555101727
NM_000051.3(ATM):c.4818T>C (p.Leu1606=) rs772074468
NM_000051.3(ATM):c.4819C>A (p.Pro1607Thr) rs1178015475
NM_000051.3(ATM):c.4821A>G (p.Pro1607=) rs786203559
NM_000051.3(ATM):c.4825A>G (p.Thr1609Ala) rs761197886
NM_000051.3(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.3(ATM):c.4831C>G (p.Leu1611Val) rs1026156596
NM_000051.3(ATM):c.4833T>G (p.Leu1611=) rs769025179
NM_000051.3(ATM):c.4840C>T (p.Leu1614=) rs777239020
NM_000051.3(ATM):c.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.3(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.3(ATM):c.4845G>T (p.Lys1615Asn) rs888498126
NM_000051.3(ATM):c.4852C>T (p.Arg1618Ter) rs762083530
NM_000051.3(ATM):c.4853G>A (p.Arg1618Gln) rs765759912
NM_000051.3(ATM):c.4853G>T (p.Arg1618Leu) rs765759912
NM_000051.3(ATM):c.4855A>G (p.Arg1619Gly) rs1555101835
NM_000051.3(ATM):c.4856G>A (p.Arg1619Lys) rs730881393
NM_000051.3(ATM):c.4857A>G (p.Arg1619=) rs1555101850
NM_000051.3(ATM):c.4860A>G (p.Gln1620=) rs1057520446
NM_000051.3(ATM):c.4865A>G (p.Glu1622Gly) rs1555101872
NM_000051.3(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.3(ATM):c.4871A>G (p.His1624Arg) rs56354559
NM_000051.3(ATM):c.4873A>G (p.Lys1625Glu) rs1060501693
NM_000051.3(ATM):c.4878T>C (p.Asp1626=) rs755687834
NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.3(ATM):c.4880A>T (p.Gln1627Leu) rs786203857
NM_000051.3(ATM):c.4885G>A (p.Val1629Met) rs876660748
NM_000051.3(ATM):c.4885G>C (p.Val1629Leu) rs876660748
NM_000051.3(ATM):c.4885dup (p.Val1629fs) rs1555101915
NM_000051.3(ATM):c.4888G>A (p.Asp1630Asn) rs1555101921
NM_000051.3(ATM):c.488A>G (p.Gln163Arg) rs876660598
NM_000051.3(ATM):c.4892T>G (p.Ile1631Ser) rs1060501674
NM_000051.3(ATM):c.4896G>A (p.Met1632Ile) rs933030670
NM_000051.3(ATM):c.4898G>T (p.Arg1633Ile) rs1555101943
NM_000051.3(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.3(ATM):c.48A>G (p.Glu16=) rs774768437
NM_000051.3(ATM):c.4900G>A (p.Ala1634Thr) rs1565466632
NM_000051.3(ATM):c.4909+1G>A rs756987454
NM_000051.3(ATM):c.4909+3G>A rs778685122
NM_000051.3(ATM):c.4909+4C>T rs587782125
NM_000051.3(ATM):c.4909G>T (p.Asp1637Tyr) rs753870656
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.4910-5T>C rs1309478967
NM_000051.3(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.3(ATM):c.4916C>T (p.Pro1639Leu) rs752459491
NM_000051.3(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.3(ATM):c.4917G>T (p.Pro1639=) rs140425622
NM_000051.3(ATM):c.4919A>C (p.Gln1640Pro) rs1555103190
NM_000051.3(ATM):c.4921G>C (p.Asp1641His) rs587782896
NM_000051.3(ATM):c.4928T>A (p.Ile1643Asn) rs1555103201
NM_000051.3(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.3(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.3(ATM):c.493T>C (p.Leu165=) rs878853514
NM_000051.3(ATM):c.4941A>G (p.Leu1647=) rs786201667
NM_000051.3(ATM):c.4947C>T (p.Val1649=) rs1436324961
NM_000051.3(ATM):c.4949A>C (p.Asn1650Thr) rs55870064
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.4952T>C (p.Leu1651Ser) rs1555103237
NM_000051.3(ATM):c.4953G>A (p.Leu1651=) rs786201297
NM_000051.3(ATM):c.4953G>T (p.Leu1651Phe) rs786201297
NM_000051.3(ATM):c.496+1G>A rs876658500
NM_000051.3(ATM):c.496+3A>G rs876658311
NM_000051.3(ATM):c.496+4T>G rs587781375
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.4961T>C (p.Leu1654Ser) rs587781679
NM_000051.3(ATM):c.4963T>C (p.Ser1655Pro) rs1376280581
NM_000051.3(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215
NM_000051.3(ATM):c.497-3A>T rs1046559213
NM_000051.3(ATM):c.497-4T>A rs876659621
NM_000051.3(ATM):c.497-4del rs768748099
NM_000051.3(ATM):c.497-4dup rs768748099
NM_000051.3(ATM):c.4970T>A (p.Met1657Lys) rs1555103260
NM_000051.3(ATM):c.4975A>G (p.Ile1659Val) rs778632065
NM_000051.3(ATM):c.497A>G (p.Glu166Gly) rs863224573
NM_000051.3(ATM):c.497A>T (p.Glu166Val) rs863224573
NM_000051.3(ATM):c.4980C>T (p.Asn1660=) rs144338238
NM_000051.3(ATM):c.4981C>A (p.His1661Asn) rs1591692950
NM_000051.3(ATM):c.4982A>G (p.His1661Arg) rs1555103285
NM_000051.3(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.3(ATM):c.4990G>A (p.Glu1664Lys) rs1555103301
NM_000051.3(ATM):c.49C>A (p.His17Asn) rs876658161
NM_000051.3(ATM):c.5002C>T (p.Leu1668=) rs747317946
NM_000051.3(ATM):c.5004A>G (p.Leu1668=) rs768565424
NM_000051.3(ATM):c.5005+1G>T rs1057517427
NM_000051.3(ATM):c.5006-5T>A rs1555104475
NM_000051.3(ATM):c.5009C>T (p.Ala1670Val) rs375131360
NM_000051.3(ATM):c.5010T>G (p.Ala1670=) rs1555104482
NM_000051.3(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.3(ATM):c.501G>A (p.Leu167=) rs1181703620
NM_000051.3(ATM):c.5020T>C (p.Cys1674Arg) rs1555104511
NM_000051.3(ATM):c.5023T>C (p.Leu1675=) rs876660275
NM_000051.3(ATM):c.5034G>C (p.Val1678=) rs1555104548
NM_000051.3(ATM):c.5036G>A (p.Gly1679Asp) rs1064794124
NM_000051.3(ATM):c.5039C>T (p.Pro1680Leu) rs587782153
NM_000051.3(ATM):c.5041A>G (p.Ile1681Val) rs1298268285
NM_000051.3(ATM):c.5042T>C (p.Ile1681Thr) rs1307715383
NM_000051.3(ATM):c.5045A>G (p.Asp1682Gly) rs980731959
NM_000051.3(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.3(ATM):c.5055C>T (p.Thr1685=) rs587780551
NM_000051.3(ATM):c.5056A>G (p.Ile1686Val) rs145453814
NM_000051.3(ATM):c.5059G>T (p.Ala1687Ser) rs1555104597
NM_000051.3(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.3(ATM):c.5063T>C (p.Ile1688Thr) rs199836342
NM_000051.3(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.3(ATM):c.5069A>G (p.His1690Arg) rs863224574
NM_000051.3(ATM):c.5076A>C (p.Lys1692Asn) rs767841041
NM_000051.3(ATM):c.507T>C (p.Ser169=) rs758619186
NM_000051.3(ATM):c.5080G>A (p.Ala1694Thr) rs756197350
NM_000051.3(ATM):c.5081C>G (p.Ala1694Gly) rs587782551
NM_000051.3(ATM):c.5087A>G (p.Tyr1696Cys) rs1555104673
NM_000051.3(ATM):c.5088T>C (p.Tyr1696=) rs786203476
NM_000051.3(ATM):c.5089A>G (p.Thr1697Ala) rs142455912
NM_000051.3(ATM):c.508G>T (p.Val170Leu) rs786202781
NM_000051.3(ATM):c.5096C>T (p.Ala1699Val) rs992234584
NM_000051.3(ATM):c.5101A>G (p.Lys1701Glu) rs746220021
NM_000051.3(ATM):c.510G>A (p.Val170=) rs375682557
NM_000051.3(ATM):c.5115T>C (p.Asp1705=) rs876658685
NM_000051.3(ATM):c.5118A>G (p.Lys1706=) rs3218672
NM_000051.3(ATM):c.5122C>T (p.Leu1708Phe) rs1555104730
NM_000051.3(ATM):c.5125C>A (p.Gln1709Lys) rs1341457041
NM_000051.3(ATM):c.5126A>G (p.Gln1709Arg) rs587780627
NM_000051.3(ATM):c.512A>G (p.Tyr171Cys) rs1060501616
NM_000051.3(ATM):c.5130G>T (p.Trp1710Cys) rs780816003
NM_000051.3(ATM):c.5136C>T (p.Phe1712=) rs786203371
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5141T>G (p.Met1714Arg) rs1591702873
NM_000051.3(ATM):c.5144T>C (p.Leu1715Pro) rs747800057
NM_000051.3(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.3(ATM):c.514T>C (p.Phe172Leu) rs786201608
NM_000051.3(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.3(ATM):c.5157T>C (p.Asn1719=) rs786203254
NM_000051.3(ATM):c.5162C>T (p.Thr1721Ile) rs786203910
NM_000051.3(ATM):c.5168T>C (p.Val1723Ala) rs915337829
NM_000051.3(ATM):c.5175T>C (p.Asp1725=) rs1555104803
NM_000051.3(ATM):c.5177+1G>A rs1131691159
NM_000051.3(ATM):c.5178-1G>A rs1555105579
NM_000051.3(ATM):c.5178-3C>G rs876658558
NM_000051.3(ATM):c.5178-4dup rs747750958
NM_000051.3(ATM):c.5183A>G (p.Lys1728Arg) rs1060501613
NM_000051.3(ATM):c.5185del (p.Val1729fs) rs1555105610
NM_000051.3(ATM):c.5186T>C (p.Val1729Ala) rs1179068103
NM_000051.3(ATM):c.5188C>G (p.Arg1730Gly) rs764389018
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5189G>A (p.Arg1730Gln) rs373789346
NM_000051.3(ATM):c.518G>T (p.Arg173Met) rs372694758
NM_000051.3(ATM):c.5190A>G (p.Arg1730=) rs786201609
NM_000051.3(ATM):c.5194G>A (p.Ala1732Thr) rs730881372
NM_000051.3(ATM):c.519G>T (p.Arg173Ser) rs587781391
NM_000051.3(ATM):c.5203dup (p.Thr1735fs) rs878853518
NM_000051.3(ATM):c.5205C>G (p.Thr1735=) rs1060504283
NM_000051.3(ATM):c.5217C>T (p.Asn1739=) rs876658271
NM_000051.3(ATM):c.5222T>C (p.Leu1741Ser) rs750896881
NM_000051.3(ATM):c.5226C>T (p.Ala1742=) rs750881004
NM_000051.3(ATM):c.5228C>G (p.Thr1743Arg) rs587779844
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.522C>G (p.Leu174=) rs780173724
NM_000051.3(ATM):c.522C>T (p.Leu174=) rs780173724
NM_000051.3(ATM):c.5233A>C (p.Thr1745Pro) rs587782532
NM_000051.3(ATM):c.5236G>A (p.Gly1746Arg) rs1060501571
NM_000051.3(ATM):c.5237G>T (p.Gly1746Val) rs879254135
NM_000051.3(ATM):c.5240A>G (p.His1747Arg) rs1555105695
NM_000051.3(ATM):c.5242A>C (p.Ser1748Arg) rs876658175
NM_000051.3(ATM):c.5246T>C (p.Phe1749Ser) rs1591708790
NM_000051.3(ATM):c.5250G>C (p.Trp1750Cys) rs587779845
NM_000051.3(ATM):c.5250G>T (p.Trp1750Cys) rs587779845
NM_000051.3(ATM):c.5251G>C (p.Glu1751Gln) rs755397489
NM_000051.3(ATM):c.5256T>A (p.Ile1752=) rs1555105718
NM_000051.3(ATM):c.5256T>C (p.Ile1752=) rs1555105718
NM_000051.3(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.3(ATM):c.5262G>T (p.Lys1754Asn) rs748900588
NM_000051.3(ATM):c.5263A>G (p.Met1755Val) rs876659150
NM_000051.3(ATM):c.5264T>C (p.Met1755Thr) rs1555105739
NM_000051.3(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.3(ATM):c.526C>G (p.Leu176Val) rs375798802
NM_000051.3(ATM):c.5270C>T (p.Thr1757Ile) rs587781575
NM_000051.3(ATM):c.5271A>G (p.Thr1757=) rs1555105759
NM_000051.3(ATM):c.5278A>G (p.Met1760Val) rs151327241
NM_000051.3(ATM):c.527T>A (p.Leu176Gln) rs1555066315
NM_000051.3(ATM):c.527T>C (p.Leu176Pro) rs1555066315
NM_000051.3(ATM):c.5288A>G (p.Tyr1763Cys) rs1555105780
NM_000051.3(ATM):c.5292A>G (p.Leu1764=) rs786201703
NM_000051.3(ATM):c.5294A>G (p.Gln1765Arg) rs35556390
NM_000051.3(ATM):c.5300T>G (p.Phe1767Cys) rs864622125
NM_000051.3(ATM):c.5301T>C (p.Phe1767=) rs1468101040
NM_000051.3(ATM):c.5310A>G (p.Ser1770=) rs1060504282
NM_000051.3(ATM):c.5312G>C (p.Arg1771Thr) rs1416930012
NM_000051.3(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.3(ATM):c.5319+1G>A rs876660175
NM_000051.3(ATM):c.5319+2T>C rs1555105842
NM_000051.3(ATM):c.5319+3C>A rs371640963
NM_000051.3(ATM):c.5319+3C>T rs371640963
NM_000051.3(ATM):c.5319+4T>C rs1170957197
NM_000051.3(ATM):c.5320-4C>G rs1316146972
NM_000051.3(ATM):c.5320-5T>C rs1555106308
NM_000051.3(ATM):c.5320-5_5320-2del rs730881310
NM_000051.3(ATM):c.5323T>G (p.Leu1775Val) rs768820804
NM_000051.3(ATM):c.5326G>A (p.Glu1776Lys) rs1555106321
NM_000051.3(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.3(ATM):c.532C>T (p.Pro178Ser) rs786201807
NM_000051.3(ATM):c.5330T>C (p.Val1777Ala) rs1555106328
NM_000051.3(ATM):c.5345A>G (p.Lys1782Arg) rs878853520
NM_000051.3(ATM):c.5349A>G (p.Glu1783=) rs1555106353
NM_000051.3(ATM):c.534T>C (p.Pro178=) rs1060504293
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.5355T>G (p.Pro1785=) rs1025083720
NM_000051.3(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.3(ATM):c.5358T>C (p.Phe1786=) rs876659725
NM_000051.3(ATM):c.5362G>A (p.Gly1788Ser) rs730881373
NM_000051.3(ATM):c.5364C>T (p.Gly1788=) rs780134093
NM_000051.3(ATM):c.5368G>A (p.Asp1790Asn) rs876658890
NM_000051.3(ATM):c.5369A>T (p.Asp1790Val) rs746945284
NM_000051.3(ATM):c.5370T>A (p.Asp1790Glu) rs1555106395
NM_000051.3(ATM):c.5374A>G (p.Ile1792Val) rs1555106405
NM_000051.3(ATM):c.5375T>C (p.Ile1792Thr) rs776309355
NM_000051.3(ATM):c.5376A>T (p.Ile1792=) rs1287734608
NM_000051.3(ATM):c.5382G>A (p.Leu1794=) rs188362115
NM_000051.3(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.3(ATM):c.538C>T (p.Gln180Ter) rs730881333
NM_000051.3(ATM):c.5392C>G (p.Leu1798Val) rs879254274
NM_000051.3(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.3(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.3(ATM):c.5402A>G (p.Asn1801Ser) rs1555106445
NM_000051.3(ATM):c.5402dup (p.Asn1801fs) rs1555106438
NM_000051.3(ATM):c.5409C>T (p.Asp1803=) rs1555106462
NM_000051.3(ATM):c.5410A>T (p.Ile1804Phe) rs769872474
NM_000051.3(ATM):c.5416A>C (p.Ile1806Leu) rs1565479163
NM_000051.3(ATM):c.5417T>C (p.Ile1806Thr) rs773546064
NM_000051.3(ATM):c.5418A>G (p.Ile1806Met) rs763020528
NM_000051.3(ATM):c.5428A>G (p.Thr1810Ala) rs876659748
NM_000051.3(ATM):c.5435C>T (p.Ala1812Val) rs199885813
NM_000051.3(ATM):c.5436T>G (p.Ala1812=) rs1555106502
NM_000051.3(ATM):c.5441dup (p.Leu1814fs) rs1555106508
NM_000051.3(ATM):c.5448T>C (p.Ser1816=) rs766455425
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.3(ATM):c.5457A>G (p.Thr1819=) rs1555106535
NM_000051.3(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.3(ATM):c.5470C>T (p.Leu1824Phe) rs764784077
NM_000051.3(ATM):c.5473C>A (p.Gln1825Lys) rs1555106553
NM_000051.3(ATM):c.5474A>C (p.Gln1825Pro) rs587782655
NM_000051.3(ATM):c.5488A>G (p.Met1830Val) rs587781622
NM_000051.3(ATM):c.5489T>C (p.Met1830Thr) rs145812395
NM_000051.3(ATM):c.548A>C (p.His183Pro) rs786204219
NM_000051.3(ATM):c.5492G>A (p.Cys1831Tyr) rs1555106575
NM_000051.3(ATM):c.5496+5G>T rs786202708
NM_000051.3(ATM):c.5497-1G>A rs876660245
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.5497-2A>G rs786203796
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.3(ATM):c.54T>C (p.Asp18=) rs786203926
NM_000051.3(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.3(ATM):c.550A>G (p.Arg184Gly) rs1555066377
NM_000051.3(ATM):c.5512T>C (p.Cys1838Arg) rs587781390
NM_000051.3(ATM):c.5512T>G (p.Cys1838Gly) rs587781390
NM_000051.3(ATM):c.5523A>C (p.Val1841=) rs1060504268
NM_000051.3(ATM):c.5524C>T (p.Leu1842Phe) rs956546711
NM_000051.3(ATM):c.5527C>G (p.Pro1843Ala) rs1060501607
NM_000051.3(ATM):c.5529A>G (p.Pro1843=) rs750037588
NM_000051.3(ATM):c.5531A>G (p.Tyr1844Cys) rs876658907
NM_000051.3(ATM):c.5533T>A (p.Leu1845Met) rs1555107311
NM_000051.3(ATM):c.5541T>C (p.His1847=) rs1555107326
NM_000051.3(ATM):c.5543A>G (p.Asp1848Gly) rs1555107329
NM_000051.3(ATM):c.5544T>C (p.Asp1848=) rs146568734
NM_000051.3(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5550A>G (p.Leu1850=) rs35850088
NM_000051.3(ATM):c.5551C>T (p.Leu1851Phe) rs200842502
NM_000051.3(ATM):c.5553C>G (p.Leu1851=) rs786201126
NM_000051.3(ATM):c.5554C>A (p.Gln1852Lys) rs754562056
NM_000051.3(ATM):c.5556A>G (p.Gln1852=) rs1555107364
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5561C>G (p.Thr1854Arg) rs138710254
NM_000051.3(ATM):c.5564A>G (p.Asn1855Ser) rs1565481878
NM_000051.3(ATM):c.5566G>A (p.Glu1856Lys) rs1465041573
NM_000051.3(ATM):c.5571A>G (p.Ser1857=) rs777570286
NM_000051.3(ATM):c.5576G>T (p.Arg1859Ile) rs1060501568
NM_000051.3(ATM):c.5582T>C (p.Leu1861Pro) rs1555107411
NM_000051.3(ATM):c.5583G>A (p.Leu1861=) rs781383087
NM_000051.3(ATM):c.5585T>A (p.Leu1862His) rs1555107424
NM_000051.3(ATM):c.5589T>C (p.Ser1863=) rs786203902
NM_000051.3(ATM):c.5590A>G (p.Thr1864Ala) rs1240167425
NM_000051.3(ATM):c.5594A>G (p.His1865Arg) rs876659963
NM_000051.3(ATM):c.5594_5595del (p.His1865fs) rs1555107450
NM_000051.3(ATM):c.5595T>A (p.His1865Gln) rs772261410
NM_000051.3(ATM):c.5595T>C (p.His1865=) rs772261410
NM_000051.3(ATM):c.5596G>A (p.Val1866Ile) rs1468995507
NM_000051.3(ATM):c.5600A>G (p.Gln1867Arg) rs1555107457
NM_000051.3(ATM):c.5605T>C (p.Phe1869Leu) rs975721205
NM_000051.3(ATM):c.5612C>T (p.Thr1871Ile) rs538452060
NM_000051.3(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239
NM_000051.3(ATM):c.5618G>T (p.Cys1873Phe) rs587782239
NM_000051.3(ATM):c.5623C>A (p.Arg1875=) rs376603775
NM_000051.3(ATM):c.5623C>T (p.Arg1875Ter) rs376603775
NM_000051.3(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.3(ATM):c.5624G>C (p.Arg1875Pro) rs762304746
NM_000051.3(ATM):c.562G>T (p.Ala188Ser) rs1555066392
NM_000051.3(ATM):c.5630T>C (p.Phe1877Ser) rs202028401
NM_000051.3(ATM):c.5633C>T (p.Ser1878Leu) rs758908522
NM_000051.3(ATM):c.5634G>A (p.Ser1878=) rs767070325
NM_000051.3(ATM):c.5636A>G (p.Gln1879Arg) rs786203086
NM_000051.3(ATM):c.5637A>C (p.Gln1879His) rs587781993
NM_000051.3(ATM):c.5637A>G (p.Gln1879=) rs587781993
NM_000051.3(ATM):c.5639C>T (p.Thr1880Met) rs587780628
NM_000051.3(ATM):c.563C>A (p.Ala188Asp) rs1555066393
NM_000051.3(ATM):c.563C>G (p.Ala188Gly) rs1555066393
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5645G>A (p.Arg1882Gln) rs587782236
NM_000051.3(ATM):c.5645G>C (p.Arg1882Pro) rs587782236
NM_000051.3(ATM):c.5649C>T (p.Ser1883=) rs1057522721
NM_000051.3(ATM):c.564del (p.Arg189fs) rs876658754
NM_000051.3(ATM):c.5652A>G (p.Thr1884=) rs1591718571
NM_000051.3(ATM):c.5653A>T (p.Thr1885Ser) rs587779850
NM_000051.3(ATM):c.5655C>T (p.Thr1885=) rs1555107577
NM_000051.3(ATM):c.5658T>C (p.Pro1886=) rs940182945
NM_000051.3(ATM):c.5660C>T (p.Ala1887Val) rs1297909613
NM_000051.3(ATM):c.5661A>G (p.Ala1887=) rs876658939
NM_000051.3(ATM):c.5665T>A (p.Leu1889Met) rs746106249
NM_000051.3(ATM):c.566G>A (p.Arg189Lys) rs79075295
NM_000051.3(ATM):c.566G>C (p.Arg189Thr) rs79075295
NM_000051.3(ATM):c.5674G>A (p.Glu1892Lys) rs730881375
NM_000051.3(ATM):c.5675-3C>G rs876658545
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.567A>G (p.Arg189=) rs1555066398
NM_000051.3(ATM):c.5683C>A (p.His1895Asn) rs766901049
NM_000051.3(ATM):c.5683C>T (p.His1895Tyr) rs766901049
NM_000051.3(ATM):c.5685C>A (p.His1895Gln) rs889445709
NM_000051.3(ATM):c.5690T>G (p.Phe1897Cys) rs587782516
NM_000051.3(ATM):c.5692C>T (p.Arg1898Ter) rs775036118
NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln) rs370680798
NM_000051.3(ATM):c.5695T>A (p.Cys1899Ser) rs373213507
NM_000051.3(ATM):c.569T>A (p.Ile190Lys) rs201159454
NM_000051.3(ATM):c.5703G>A (p.Leu1901=) rs756979112
NM_000051.3(ATM):c.5705A>G (p.Asp1902Gly) rs1565486057
NM_000051.3(ATM):c.5707A>G (p.Lys1903Glu) rs765027485
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.3(ATM):c.5718A>G (p.Gln1906=) rs863224293
NM_000051.3(ATM):c.5718_5719del (p.Arg1907fs) rs1555109102
NM_000051.3(ATM):c.5725A>G (p.Met1909Val) rs750561317
NM_000051.3(ATM):c.5726T>G (p.Met1909Arg) rs542378165
NM_000051.3(ATM):c.5727G>A (p.Met1909Ile) rs1555109119
NM_000051.3(ATM):c.5728C>A (p.Leu1910Ile) rs143577586
NM_000051.3(ATM):c.5734G>A (p.Val1912Ile) rs1064794105
NM_000051.3(ATM):c.5737G>A (p.Val1913Met) rs876659487
NM_000051.3(ATM):c.5746A>G (p.Met1916Val) rs910274159
NM_000051.3(ATM):c.5747T>C (p.Met1916Thr) rs1060501557
NM_000051.3(ATM):c.5748_5750del (p.Met1916_Arg1917delinsIle) rs876659524
NM_000051.3(ATM):c.574C>A (p.His192Asn) rs587780629
NM_000051.3(ATM):c.574C>G (p.His192Asp) rs587780629
NM_000051.3(ATM):c.574C>T (p.His192Tyr) rs587780629
NM_000051.3(ATM):c.5750G>C (p.Arg1917Thr) rs377289524
NM_000051.3(ATM):c.575A>G (p.His192Arg) rs1555066411
NM_000051.3(ATM):c.5762+1G>A rs869312756
NM_000051.3(ATM):c.5762+1G>T rs869312756
NM_000051.3(ATM):c.577G>C (p.Ala193Pro) rs876659832
NM_000051.3(ATM):c.584C>T (p.Thr195Ile) rs1196611507
NM_000051.3(ATM):c.589G>A (p.Gly197Arg) rs764080545
NM_000051.3(ATM):c.58G>A (p.Ala20Thr) rs1555053946
NM_000051.3(ATM):c.590G>A (p.Gly197Glu) rs753806542
NM_000051.3(ATM):c.590G>T (p.Gly197Val) rs753806542
NM_000051.3(ATM):c.591A>G (p.Gly197=) rs587780630
NM_000051.3(ATM):c.591A>T (p.Gly197=) rs587780630
NM_000051.3(ATM):c.597T>A (p.Cys199Ter) rs1565369633
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.605C>T (p.Thr202Ile) rs1555066438
NM_000051.3(ATM):c.606_609del (p.Asp203_Gly204insTer) rs876658548
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.611G>T (p.Gly204Val) rs1555066451
NM_000051.3(ATM):c.612A>G (p.Gly204=) rs878853527
NM_000051.3(ATM):c.615A>G (p.Leu205=) rs1555066455
NM_000051.3(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.3(ATM):c.620C>G (p.Ser207Cys) rs876660296
NM_000051.3(ATM):c.622A>C (p.Lys208Gln) rs1292617227
NM_000051.3(ATM):c.630G>A (p.Leu210=) rs1565369739
NM_000051.3(ATM):c.631G>A (p.Asp211Asn) rs1555066481
NM_000051.3(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.3(ATM):c.634T>C (p.Phe212Leu) rs876659912
NM_000051.3(ATM):c.63A>G (p.Thr21=) rs199853729
NM_000051.3(ATM):c.640T>C (p.Ser214Pro) rs747053710
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.642del (p.Lys215fs) rs876660315
NM_000051.3(ATM):c.644A>C (p.Lys215Thr) rs755074633
NM_000051.3(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.3(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.3(ATM):c.648T>G (p.Ala216=) rs770270310
NM_000051.3(ATM):c.649A>G (p.Ile217Val) rs547045780
NM_000051.3(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.3(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.3(ATM):c.653A>G (p.Gln218Arg) rs1198686265
NM_000051.3(ATM):c.654G>T (p.Gln218His) rs1555066555
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.659C>T (p.Ala220Val) rs145355104
NM_000051.3(ATM):c.660G>A (p.Ala220=) rs763669136
NM_000051.3(ATM):c.662+1G>A rs1060501690
NM_000051.3(ATM):c.662+4A>G rs1555066570
NM_000051.3(ATM):c.668A>G (p.Glu223Gly) rs776227830
NM_000051.3(ATM):c.66A>G (p.Glu22=) rs1185359350
NM_000051.3(ATM):c.670A>G (p.Lys224Glu) rs145053092
NM_000051.3(ATM):c.672G>C (p.Lys224Asn) rs769731317
NM_000051.3(ATM):c.675C>G (p.Ser225Arg) rs1555066940
NM_000051.3(ATM):c.67C>T (p.Arg23Ter) rs746235533
NM_000051.3(ATM):c.680C>T (p.Ser227Leu) rs762998620
NM_000051.3(ATM):c.684T>C (p.Gly228=) rs1591503368
NM_000051.3(ATM):c.687A>G (p.Leu229=) rs3218706
NM_000051.3(ATM):c.689A>G (p.Asn230Ser) rs876659494
NM_000051.3(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.3(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.3(ATM):c.693T>C (p.His231=) rs1555066993
NM_000051.3(ATM):c.695T>C (p.Ile232Thr) rs786203502
NM_000051.3(ATM):c.695T>G (p.Ile232Ser) rs786203502
NM_000051.3(ATM):c.69A>G (p.Arg23=) rs876659304
NM_000051.3(ATM):c.702A>G (p.Ala234=) rs752751588
NM_000051.3(ATM):c.706C>G (p.Leu236Val) rs886042866
NM_000051.3(ATM):c.707T>C (p.Leu236Pro) rs876659813
NM_000051.3(ATM):c.708del (p.Thr237fs) rs1555067034
NM_000051.3(ATM):c.709A>G (p.Thr237Ala) rs376529329
NM_000051.3(ATM):c.70A>G (p.Lys24Glu) rs1469464426
NM_000051.3(ATM):c.712A>G (p.Ile238Val) rs754275014
NM_000051.3(ATM):c.713T>C (p.Ile238Thr) rs149116878
NM_000051.3(ATM):c.716T>C (p.Phe239Ser) rs143198946
NM_000051.3(ATM):c.717C>T (p.Phe239=) rs779410490
NM_000051.3(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.3(ATM):c.718C>T (p.Leu240Phe) rs1210038351
NM_000051.3(ATM):c.719T>G (p.Leu240Arg) rs876658753
NM_000051.3(ATM):c.71A>T (p.Lys24Met) rs1060501710
NM_000051.3(ATM):c.726T>C (p.Thr242=) rs1555067070
NM_000051.3(ATM):c.728T>C (p.Leu243Ser) rs786202096
NM_000051.3(ATM):c.73-1G>A rs1555054043
NM_000051.3(ATM):c.73-3C>G rs1555054039
NM_000051.3(ATM):c.73-3C>T rs1555054039
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.737_742del (p.Asn246_Phe247del) rs1555067088
NM_000051.3(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.3(ATM):c.741dup (p.Arg248fs) rs1131691161
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.3(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.3(ATM):c.753G>A (p.Val251=) rs876658806
NM_000051.3(ATM):c.762A>G (p.Leu254=) rs1313709939
NM_000051.3(ATM):c.763G>C (p.Gly255Arg) rs770911662
NM_000051.3(ATM):c.767A>T (p.Asp256Val) rs907941927
NM_000051.3(ATM):c.76G>C (p.Glu26Gln) rs730881361
NM_000051.3(ATM):c.771A>G (p.Glu257=) rs786201068
NM_000051.3(ATM):c.779C>T (p.Pro260Leu) rs961262202
NM_000051.3(ATM):c.781A>T (p.Thr261Ser) rs786203410
NM_000051.3(ATM):c.785T>G (p.Leu262Trp) rs864622163
NM_000051.3(ATM):c.787C>T (p.Leu263Phe) rs876659531
NM_000051.3(ATM):c.78A>T (p.Glu26Asp) rs786202953
NM_000051.3(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.3(ATM):c.793A>G (p.Ile265Val) rs587781973
NM_000051.3(ATM):c.795T>C (p.Ile265=) rs1290222131
NM_000051.3(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.3(ATM):c.79G>A (p.Val27Ile) rs754770960
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.3(ATM):c.811C>A (p.Leu271Ile) rs730881339
NM_000051.3(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.3(ATM):c.826A>G (p.Lys276Glu) rs587782902
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.835A>G (p.Ile279Val) rs1555067210
NM_000051.3(ATM):c.838A>G (p.Ile280Val) rs764048041
NM_000051.3(ATM):c.839T>C (p.Ile280Thr) rs587782080
NM_000051.3(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.3(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.3(ATM):c.852A>G (p.Gln284=) rs140367473
NM_000051.3(ATM):c.854T>G (p.Leu285Arg) rs864622605
NM_000051.3(ATM):c.855del (p.Gln286fs) rs1555067251
NM_000051.3(ATM):c.858A>G (p.Gln286=) rs145301478
NM_000051.3(ATM):c.861T>C (p.Ile287=) rs55849405
NM_000051.3(ATM):c.872A>G (p.His291Arg) rs1555067285
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.876G>A (p.Pro292=) rs755860432
NM_000051.3(ATM):c.884C>A (p.Ala295Asp) rs1044092081
NM_000051.3(ATM):c.887A>C (p.Lys296Thr) rs1064795297
NM_000051.3(ATM):c.889A>G (p.Thr297Ala) rs1340517984
NM_000051.3(ATM):c.891C>G (p.Thr297=) rs575285986
NM_000051.3(ATM):c.896A>G (p.Glu299Gly) rs587779876
NM_000051.3(ATM):c.89T>A (p.Phe30Tyr) rs876658520
NM_000051.3(ATM):c.8T>C (p.Leu3Pro) rs1555053861
NM_000051.3(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.3(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.3(ATM):c.901+1G>A rs748840480
NM_000051.3(ATM):c.901+1G>C rs748840480
NM_000051.3(ATM):c.901+1G>T rs748840480
NM_000051.3(ATM):c.901+3A>T rs786203070
NM_000051.3(ATM):c.902-1G>T rs1064793518
NM_000051.3(ATM):c.902G>A (p.Gly301Asp) rs202208861
NM_000051.3(ATM):c.903T>G (p.Gly301=) rs876659335
NM_000051.3(ATM):c.905C>T (p.Ala302Val) rs778442248
NM_000051.3(ATM):c.916A>G (p.Thr306Ala) rs1555068304
NM_000051.3(ATM):c.921A>T (p.Lys307Asn) rs1555068322
NM_000051.3(ATM):c.925A>C (p.Arg309=) rs876659841
NM_000051.3(ATM):c.925A>G (p.Arg309Gly) rs876659841
NM_000051.3(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000051.3(ATM):c.931A>G (p.Ile311Val) rs876658322
NM_000051.3(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000051.3(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.3(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000051.3(ATM):c.946T>C (p.Tyr316His) rs142317485
NM_000051.3(ATM):c.947A>G (p.Tyr316Cys) rs1340280916
NM_000051.3(ATM):c.949G>T (p.Asp317Tyr) rs1445292591
NM_000051.3(ATM):c.951T>G (p.Asp317Glu) rs876659199
NM_000051.3(ATM):c.95G>A (p.Arg32His) rs368161489
NM_000051.3(ATM):c.962A>G (p.Asn321Ser) rs1555068398
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.3(ATM):c.96C>T (p.Arg32=) rs1305090923
NM_000051.3(ATM):c.975T>C (p.His325=) rs746825207
NM_000051.3(ATM):c.976A>G (p.Ile326Val) rs1555068422
NM_000051.3(ATM):c.977T>C (p.Ile326Thr) rs768720856
NM_000051.3(ATM):c.978A>G (p.Ile326Met) rs1555068424
NM_000051.3(ATM):c.97C>T (p.Leu33=) rs1057522542
NM_000051.3(ATM):c.984_986del (p.Ser328del) rs876659593
NM_000051.3(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000051.3(ATM):c.989G>C (p.Gly330Ala) rs762179829
NM_000051.3(ATM):c.991A>G (p.Lys331Glu) rs1555068451
NM_000051.3(ATM):c.993G>A (p.Lys331=) rs786202048
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.-3A>G rs1591445631
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1049C>T (p.Ala350Val) rs375049090
NM_000051.4(ATM):c.1050A>C (p.Ala350=) rs1591511442
NM_000051.4(ATM):c.1056_1057del (p.Ile352fs) rs1591511511
NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr) rs1591511538
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1065+4C>T rs1591511595
NM_000051.4(ATM):c.1066-3C>G rs1565378708
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.1073dup (p.Asn358fs) rs1591517182
NM_000051.4(ATM):c.1078G>A (p.Asp360Asn) rs1591517212
NM_000051.4(ATM):c.1084A>G (p.Arg362Gly) rs1591517251
NM_000051.4(ATM):c.1095_1101delinsA (p.Ile366_Ser367del) rs878853481
NM_000051.4(ATM):c.1104A>T (p.Gln368His) rs560691658
NM_000051.4(ATM):c.110C>T (p.Pro37Leu) rs1591446947
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer) rs1591517456
NM_000051.4(ATM):c.1113T>C (p.Thr371=) rs1591517484
NM_000051.4(ATM):c.1114A>G (p.Thr372Ala) rs1591517491
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1126G>A (p.Glu376Lys) rs1555069657
NM_000051.4(ATM):c.1143T>A (p.Ser381Arg) rs755991658
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter) rs876660106
NM_000051.4(ATM):c.1184T>C (p.Val395Ala) rs1591517993
NM_000051.4(ATM):c.1205A>C (p.Lys402Thr) rs1591518138
NM_000051.4(ATM):c.1231_1235dup (p.Trp412fs) rs1591518293
NM_000051.4(ATM):c.1236-5T>C rs1591522569
NM_000051.4(ATM):c.124C>A (p.His42Asn) rs1591447034
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.4(ATM):c.1264A>G (p.Lys422Glu) rs1555070678
NM_000051.4(ATM):c.1270C>A (p.Pro424Thr) rs1591522957
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1274C>T (p.Ala425Val) rs1301649540
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs) rs1591523010
NM_000051.4(ATM):c.1275A>G (p.Ala425=) rs1591523031
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter) rs587782121
NM_000051.4(ATM):c.135dup (p.His46fs) rs1591447147
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.4(ATM):c.1379C>G (p.Thr460Arg) rs587781841
NM_000051.4(ATM):c.1386T>A (p.Val462=) rs1591523725
NM_000051.4(ATM):c.1397A>G (p.Gln466Arg) rs770028453
NM_000051.4(ATM):c.1409C>T (p.Ser470Leu) rs1591523878
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1465T>G (p.Cys489Gly) rs1591524158
NM_000051.4(ATM):c.1473C>T (p.Thr491=) rs764937436
NM_000051.4(ATM):c.1476dup (p.Arg493fs) rs1565383194
NM_000051.4(ATM):c.1489T>A (p.Ser497Thr) rs1375637948
NM_000051.4(ATM):c.148A>C (p.Lys50Gln) rs1591447239
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser) rs1555071109
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816
NM_000051.4(ATM):c.1526G>A (p.Gly509Glu) rs1591524556
NM_000051.4(ATM):c.1537del (p.Gln513fs) rs1591524613
NM_000051.4(ATM):c.1540G>T (p.Gly514Cys) rs1591524652
NM_000051.4(ATM):c.154G>A (p.Gly52Arg) rs730881362
NM_000051.4(ATM):c.1565A>G (p.Glu522Gly) rs1254907954
NM_000051.4(ATM):c.1568T>C (p.Phe523Ser) rs768038315
NM_000051.4(ATM):c.1574A>C (p.Lys525Thr) rs1591524835
NM_000051.4(ATM):c.1578A>G (p.Leu526=) rs1591524857
NM_000051.4(ATM):c.1592C>T (p.Ala531Val) rs1591524927
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.4(ATM):c.1605A>C (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr) rs1555071682
NM_000051.4(ATM):c.1639A>G (p.Thr547Ala) rs1591527306
NM_000051.4(ATM):c.1643_1656del (p.Thr548fs) rs1591527327
NM_000051.4(ATM):c.1644del (p.Ser549fs) rs1591527355
NM_000051.4(ATM):c.1657G>A (p.Gly553Arg) rs1591527438
NM_000051.4(ATM):c.1665A>G (p.Val555=) rs754367168
NM_000051.4(ATM):c.1685A>T (p.Asn562Ile) rs368209025
NM_000051.4(ATM):c.168T>G (p.Asn56Lys) rs1591447362
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.4(ATM):c.1714T>A (p.Leu572Ile) rs749216212
NM_000051.4(ATM):c.1730T>C (p.Met577Thr) rs1591527919
NM_000051.4(ATM):c.1734A>T (p.Lys578Asn) rs1555071939
NM_000051.4(ATM):c.1735T>C (p.Trp579Arg) rs1591527984
NM_000051.4(ATM):c.1740C>G (p.Leu580=) rs1060504269
NM_000051.4(ATM):c.1751A>G (p.Gln584Arg) rs876660149
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp) rs1555072017
NM_000051.4(ATM):c.1793T>C (p.Ile598Thr) rs1591528409
NM_000051.4(ATM):c.1801A>G (p.Ser601Gly) rs1591528484
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.1822C>T (p.Leu608=) rs1591530779
NM_000051.4(ATM):c.1836_1837TG[1] (p.Val613fs) rs1591530854
NM_000051.4(ATM):c.1847dup (p.Met617fs) rs1591530991
NM_000051.4(ATM):c.1856A>G (p.Asn619Ser) rs1591531036
NM_000051.4(ATM):c.1862A>G (p.Lys621Arg) rs1591531052
NM_000051.4(ATM):c.1869A>G (p.Ala623=) rs1591531055
NM_000051.4(ATM):c.1898+4T>A rs1591531225
NM_000051.4(ATM):c.1915G>C (p.Asp639His) rs1591533828
NM_000051.4(ATM):c.1916A>G (p.Asp639Gly) rs1591533846
NM_000051.4(ATM):c.1921_1923GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.1928T>C (p.Leu643Pro) rs1591533931
NM_000051.4(ATM):c.1937C>G (p.Ser646Ter) rs1591534005
NM_000051.4(ATM):c.1939G>A (p.Glu647Lys) rs1060501599
NM_000051.4(ATM):c.194A>C (p.Gln65Pro) rs760471526
NM_000051.4(ATM):c.1968T>C (p.Thr656=) rs1317185205
NM_000051.4(ATM):c.198A>T (p.Lys66Asn) rs540920248
NM_000051.4(ATM):c.1993A>C (p.Ile665Leu) rs1060501645
NM_000051.4(ATM):c.2009G>C (p.Gly670Ala) rs887944555
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.4(ATM):c.2031T>C (p.Ser677=) rs1591534580
NM_000051.4(ATM):c.2046C>A (p.Val682=) rs1591534664
NM_000051.4(ATM):c.2066C>T (p.Ser689Leu) rs1591534804
NM_000051.4(ATM):c.206A>C (p.Gln69Pro) rs1591451524
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu) rs751515818
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter) rs1591534936
NM_000051.4(ATM):c.2111A>C (p.Asn704Thr) rs753903558
NM_000051.4(ATM):c.2113T>C (p.Tyr705His) rs757260641
NM_000051.4(ATM):c.2116T>G (p.Ser706Ala) rs536609092
NM_000051.4(ATM):c.2124G>C (p.Glu708Asp) rs1468938522
NM_000051.4(ATM):c.2128A>G (p.Thr710Ala) rs750506930
NM_000051.4(ATM):c.2149C>A (p.Arg717=) rs147515380
NM_000051.4(ATM):c.2157A>G (p.Ser719=) rs1591542014
NM_000051.4(ATM):c.2163T>C (p.Leu721=) rs1591542057
NM_000051.4(ATM):c.2178T>C (p.Leu726=) rs1591542185
NM_000051.4(ATM):c.2181C>G (p.Gly727=) rs876658836
NM_000051.4(ATM):c.2223T>A (p.Tyr741Ter) rs1057524111
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2270G>T (p.Gly757Val) rs375091571
NM_000051.4(ATM):c.2274A>C (p.Glu758Asp) rs1591546306
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.2302A>G (p.Asn768Asp) rs1591546447
NM_000051.4(ATM):c.2336T>C (p.Met779Thr) rs587778066
NM_000051.4(ATM):c.2345dup (p.Cys783fs) rs1591546645
NM_000051.4(ATM):c.2347T>C (p.Cys783Arg) rs1555075786
NM_000051.4(ATM):c.236A>G (p.Lys79Arg) rs1591451757
NM_000051.4(ATM):c.2376G>A (p.Lys792=) rs754267376
NM_000051.4(ATM):c.2383C>G (p.Pro795Ala) rs1060501651
NM_000051.4(ATM):c.2387A>G (p.Asn796Ser) rs1555076612
NM_000051.4(ATM):c.2397A>C (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.2402G>A (p.Gly801Asp) rs1591551289
NM_000051.4(ATM):c.2403C>T (p.Gly801=) rs1264455310
NM_000051.4(ATM):c.2409C>A (p.Phe803Leu) rs1416444032
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951
NM_000051.4(ATM):c.2416T>C (p.Leu806=) rs1591551376
NM_000051.4(ATM):c.242dup (p.Asn81fs) rs1591451795
NM_000051.4(ATM):c.243T>C (p.Asn81=) rs1591451819
NM_000051.4(ATM):c.2456G>A (p.Cys819Tyr) rs1591551588
NM_000051.4(ATM):c.2465T>G (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2466+1552G>C rs963653732
NM_000051.4(ATM):c.2468C>T (p.Ala823Val) rs1591587044
NM_000051.4(ATM):c.2475dup (p.Ile826fs) rs1591587103
NM_000051.4(ATM):c.2478C>G (p.Ile826Met) rs1591587125
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.4(ATM):c.2498G>A (p.Gly833Glu) rs552010421
NM_000051.4(ATM):c.2500G>A (p.Glu834Lys) rs876660430
NM_000051.4(ATM):c.250G>T (p.Ala84Ser) rs1382256509
NM_000051.4(ATM):c.2520T>G (p.Asp840Glu) rs1591587498
NM_000051.4(ATM):c.2532A>C (p.Gly844=) rs755261743
NM_000051.4(ATM):c.2533A>C (p.Asn845His) rs1591587679
NM_000051.4(ATM):c.2545G>A (p.Val849Met) rs1591587875
NM_000051.4(ATM):c.2545G>T (p.Val849Leu) rs1591587875
NM_000051.4(ATM):c.2571A>T (p.Leu857=) rs1191404395
NM_000051.4(ATM):c.2580T>A (p.Asp860Glu) rs1456550475
NM_000051.4(ATM):c.2584C>T (p.Pro862Ser) rs876660537
NM_000051.4(ATM):c.2588A>T (p.Asp863Val) rs1591588390
NM_000051.4(ATM):c.2590_2592AGT[1] (p.Ser865del) rs863224823
NM_000051.4(ATM):c.2594G>T (p.Ser865Ile) rs1591588450
NM_000051.4(ATM):c.2602G>A (p.Asp868Asn) rs1591588501
NM_000051.4(ATM):c.2603A>T (p.Asp868Val) rs750322758
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717
NM_000051.4(ATM):c.2611G>A (p.Glu871Lys) rs1591588632
NM_000051.4(ATM):c.2616T>C (p.Pro872=) rs1591588691
NM_000051.4(ATM):c.262G>T (p.Ala88Ser) rs1591451921
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2654T>C (p.Leu885Ser) rs1555083096
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr) rs1400094698
NM_000051.4(ATM):c.2697C>G (p.Asp899Glu) rs786202978
NM_000051.4(ATM):c.2729C>T (p.Thr910Ile) rs1481694786
NM_000051.4(ATM):c.2730T>G (p.Thr910=) rs1591594148
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser) rs1591594169
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.4(ATM):c.2735A>T (p.Gln912Leu) rs730881353
NM_000051.4(ATM):c.2739C>T (p.Thr913=) rs1555083293
NM_000051.4(ATM):c.274A>G (p.Lys92Glu) rs756969590
NM_000051.4(ATM):c.2755A>G (p.Arg919Gly) rs1591594384
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361
NM_000051.4(ATM):c.2775G>A (p.Arg925=) rs1591594506
NM_000051.4(ATM):c.277A>C (p.Lys93Gln) rs1555055234
NM_000051.4(ATM):c.2797T>G (p.Ser933Ala) rs1060501698
NM_000051.4(ATM):c.2821T>G (p.Ser941Ala) rs1209997887
NM_000051.4(ATM):c.2845A>G (p.Met949Val) rs1348704826
NM_000051.4(ATM):c.2846T>C (p.Met949Thr) rs1591602201
NM_000051.4(ATM):c.285G>C (p.Gln95His) rs1316615402
NM_000051.4(ATM):c.2861T>G (p.Leu954Arg) rs1555084648
NM_000051.4(ATM):c.286G>T (p.Glu96Ter) rs1591452100
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828
NM_000051.4(ATM):c.2885C>T (p.Pro962Leu) rs1591602470
NM_000051.4(ATM):c.2906T>C (p.Leu969Pro) rs1591602563
NM_000051.4(ATM):c.291C>A (p.Ile97=) rs746762110
NM_000051.4(ATM):c.2926G>A (p.Val976Met) rs1178628574
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe) rs876660628
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.4(ATM):c.2968A>G (p.Ile990Val) rs899241025
NM_000051.4(ATM):c.3021C>T (p.Asp1007=) rs1591604426
NM_000051.4(ATM):c.3021_3026del (p.Asp1007_Ser1008del) rs1591604413
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs) rs1555085172
NM_000051.4(ATM):c.3026A>G (p.Glu1009Gly) rs1591604490
NM_000051.4(ATM):c.3028_3029del (p.Asn1010fs) rs1591604513
NM_000051.4(ATM):c.3060A>G (p.Thr1020=) rs1591604737
NM_000051.4(ATM):c.3063A>G (p.Val1021=) rs1591604752
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser) rs1591604769
NM_000051.4(ATM):c.3072A>G (p.Ala1024=) rs772274328
NM_000051.4(ATM):c.3090G>A (p.Lys1030=) rs1591608292
NM_000051.4(ATM):c.3097A>T (p.Lys1033Ter) rs1591608334
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr) rs748752687
NM_000051.4(ATM):c.3133T>A (p.Cys1045Ser) rs1565427891
NM_000051.4(ATM):c.3136C>T (p.Leu1046Phe) rs1591608576
NM_000051.4(ATM):c.3153+5G>A rs1591608756
NM_000051.4(ATM):c.3154-1G>T rs1555085973
NM_000051.4(ATM):c.3154-5C>T rs55719759
NM_000051.4(ATM):c.3156T>C (p.Ala1052=) rs1591609406
NM_000051.4(ATM):c.318del (p.Lys106fs) rs1591452378
NM_000051.4(ATM):c.3198A>G (p.Lys1066=) rs1591609637
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr) rs766342338
NM_000051.4(ATM):c.3202T>C (p.Phe1068Leu) rs1255200743
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.4(ATM):c.320G>T (p.Cys107Phe) rs142358238
NM_000051.4(ATM):c.3229T>C (p.Phe1077Leu) rs1555086111
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu) rs971770683
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447
NM_000051.4(ATM):c.3247C>T (p.His1083Tyr) rs768362411
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199
NM_000051.4(ATM):c.3280A>G (p.Asn1094Asp) rs1591610333
NM_000051.4(ATM):c.3284+4del rs761592860
NM_000051.4(ATM):c.3290T>C (p.Phe1097Ser) rs1591631881
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala) rs1555090118
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.4(ATM):c.3357T>G (p.Ala1119=) rs1591632314
NM_000051.4(ATM):c.335C>T (p.Ala112Val) rs1591474358
NM_000051.4(ATM):c.3387del (p.Gly1130fs) rs1591632498
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly) rs1591632541
NM_000051.4(ATM):c.3402+3A>C rs786203688
NM_000051.4(ATM):c.3403-4T>C rs1591636158
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer) rs1591636185
NM_000051.4(ATM):c.3405C>T (p.Ser1135=) rs746829748
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475
NM_000051.4(ATM):c.3436G>A (p.Glu1146Lys) rs1565441511
NM_000051.4(ATM):c.3444T>C (p.Tyr1148=) rs1591636407
NM_000051.4(ATM):c.3455C>A (p.Ser1152Tyr) rs775045299
NM_000051.4(ATM):c.3482T>C (p.Val1161Ala) rs12788429
NM_000051.4(ATM):c.3496C>T (p.Pro1166Ser) rs867360777
NM_000051.4(ATM):c.3502T>A (p.Cys1168Ser) rs749933079
NM_000051.4(ATM):c.3518del (p.Leu1173fs) rs1591636817
NM_000051.4(ATM):c.3532A>C (p.Lys1178Gln) rs1555091359
NM_000051.4(ATM):c.3537_3538TG[1] (p.Val1180fs) rs1555091367
NM_000051.4(ATM):c.3546G>T (p.Glu1182Asp) rs1591637015
NM_000051.4(ATM):c.3565C>G (p.Leu1189Val) rs370602633
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.35G>A (p.Cys12Tyr) rs1591445899
NM_000051.4(ATM):c.3619G>C (p.Glu1207Gln) rs772724024
NM_000051.4(ATM):c.3630G>T (p.Met1210Ile) rs587778073
NM_000051.4(ATM):c.3631G>T (p.Ala1211Ser) rs745467552
NM_000051.4(ATM):c.3643G>C (p.Asp1215His) rs1366216756
NM_000051.4(ATM):c.3648T>G (p.Tyr1216Ter) rs1591641318
NM_000051.4(ATM):c.3681_3687del (p.Glu1228fs) rs1591641462
NM_000051.4(ATM):c.3686A>G (p.Tyr1229Cys) rs1591641518
NM_000051.4(ATM):c.3693A>T (p.Leu1231Phe) rs1372849076
NM_000051.4(ATM):c.3694T>G (p.Ser1232Ala) rs183532834
NM_000051.4(ATM):c.3695C>T (p.Ser1232Phe) rs367603277
NM_000051.4(ATM):c.3722A>G (p.Tyr1241Cys) rs587782688
NM_000051.4(ATM):c.3724A>G (p.Thr1242Ala) rs1591641743
NM_000051.4(ATM):c.3748T>C (p.Ser1250Pro) rs1555093268
NM_000051.4(ATM):c.3752G>A (p.Cys1251Tyr) rs1427548500
NM_000051.4(ATM):c.3755dup (p.Tyr1252Ter) rs1591645340
NM_000051.4(ATM):c.375G>A (p.Met125Ile) rs1591474725
NM_000051.4(ATM):c.3760G>A (p.Val1254Ile) rs753717865
NM_000051.4(ATM):c.376_382del (p.Met125_Asp126insTer) rs1591474736
NM_000051.4(ATM):c.3784A>G (p.Arg1262Gly) rs1591645509
NM_000051.4(ATM):c.37C>G (p.Arg13Gly) rs141586345
NM_000051.4(ATM):c.3827A>C (p.Gln1276Pro) rs770183693
NM_000051.4(ATM):c.3829G>C (p.Glu1277Gln) rs1591645689
NM_000051.4(ATM):c.3845T>C (p.Leu1282Pro) rs1591645828
NM_000051.4(ATM):c.387dup (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3915C>G (p.Asp1305Glu) rs1429663437
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.4(ATM):c.395C>G (p.Ser132Cys) rs750969764
NM_000051.4(ATM):c.395C>T (p.Ser132Phe) rs750969764
NM_000051.4(ATM):c.3961dup (p.Met1321fs) rs1591646429
NM_000051.4(ATM):c.3972T>A (p.Ser1324Arg) rs1165340615
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057
NM_000051.4(ATM):c.3993+5G>A rs3092842
NM_000051.4(ATM):c.4051T>A (p.Leu1351Ile) rs1591655873
NM_000051.4(ATM):c.4054C>T (p.His1352Tyr) rs1591655903
NM_000051.4(ATM):c.4055A>T (p.His1352Leu) rs925124248
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.4(ATM):c.4064C>A (p.Ala1355Glu) rs1591655990
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467
NM_000051.4(ATM):c.4096_4097TG[1] (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000051.4(ATM):c.4125T>C (p.Ala1375=) rs1555096804
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.4(ATM):c.4151A>G (p.His1384Arg) rs757172522
NM_000051.4(ATM):c.4203_4206delinsTTTTAAATGCTTTTT (p.Leu1401fs) rs1591660745
NM_000051.4(ATM):c.4207A>G (p.Ser1403Gly) rs768726324
NM_000051.4(ATM):c.420T>A (p.Asp140Glu) rs1591475108
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter) rs1591662598
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs) rs1591662606
NM_000051.4(ATM):c.4255_4257CTT[1] (p.Leu1420del) rs876659842
NM_000051.4(ATM):c.4259T>C (p.Leu1420Pro) rs1591662657
NM_000051.4(ATM):c.4263C>G (p.Ala1421=) rs1373073134
NM_000051.4(ATM):c.4287A>C (p.Thr1429=) rs1591662793
NM_000051.4(ATM):c.4313T>G (p.Ile1438Ser) rs1591663009
NM_000051.4(ATM):c.4315C>G (p.Leu1439Val) rs1591663019
NM_000051.4(ATM):c.4322T>C (p.Ile1441Thr) rs1469317936
NM_000051.4(ATM):c.4323A>C (p.Ile1441=) rs587779839
NM_000051.4(ATM):c.4325A>G (p.Tyr1442Cys) rs1565456320
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs) rs1591663236
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter) rs1591663285
NM_000051.4(ATM):c.4359A>T (p.Ile1453=) rs1213190389
NM_000051.4(ATM):c.4363del (p.Ser1455fs) rs1591663478
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.4(ATM):c.4409A>G (p.Tyr1470Cys) rs1591663898
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.4(ATM):c.4437G>A (p.Arg1479=) rs1591673584
NM_000051.4(ATM):c.4439_4441CTT[1] (p.Ser1481del) rs786202338
NM_000051.4(ATM):c.4460C>G (p.Ser1487Ter) rs1591673803
NM_000051.4(ATM):c.4480T>A (p.Cys1494Ser) rs1060501576
NM_000051.4(ATM):c.4498C>G (p.Gln1500Glu) rs1591674064
NM_000051.4(ATM):c.4510A>G (p.Thr1504Ala) rs767466937
NM_000051.4(ATM):c.4517T>C (p.Val1506Ala) rs1555099878
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter) rs1555099892
NM_000051.4(ATM):c.4535C>A (p.Ala1512Asp) rs1591674385
NM_000051.4(ATM):c.4553A>G (p.His1518Arg) rs762132832
NM_000051.4(ATM):c.4558A>C (p.Ile1520Leu) rs765195241
NM_000051.4(ATM):c.4570C>A (p.Leu1524Ile) rs780603110
NM_000051.4(ATM):c.4574_4578delinsCT (p.Ile1525_Pro1526delinsThr) rs1591674657
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs) rs1591674707
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del) rs768183241
NM_000051.4(ATM):c.4616T>C (p.Leu1539Ser) rs1591676806
NM_000051.4(ATM):c.4617G>A (p.Leu1539=) rs1179885415
NM_000051.4(ATM):c.4618G>A (p.Asp1540Asn) rs778622948
NM_000051.4(ATM):c.4638_4641GATA[1] (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.4647C>G (p.Asn1549Lys) rs1300874775
NM_000051.4(ATM):c.4681C>T (p.Leu1561Phe) rs1591677342
NM_000051.4(ATM):c.468G>A (p.Trp156Ter) rs1591475457
NM_000051.4(ATM):c.4701C>T (p.Asp1567=) rs1591677421
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.4(ATM):c.470G>T (p.Cys157Phe) rs1591475486
NM_000051.4(ATM):c.4723C>T (p.Arg1575Cys) rs1408892416
NM_000051.4(ATM):c.4734G>A (p.Gln1578=) rs754579737
NM_000051.4(ATM):c.4743C>G (p.Ile1581Met) rs1591677662
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4784A>C (p.Asn1595Thr) rs777812804
NM_000051.4(ATM):c.4796C>G (p.Ser1599Ter) rs1591684337
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.4(ATM):c.4802_4803GT[1] (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4811A>G (p.Asp1604Gly) rs1591684476
NM_000051.4(ATM):c.4826C>G (p.Thr1609Arg) rs1316363133
NM_000051.4(ATM):c.482A>G (p.Gln161Arg) rs587780625
NM_000051.4(ATM):c.487C>G (p.Gln163Glu) rs1591475608
NM_000051.4(ATM):c.487C>T (p.Gln163Ter) rs1591475608
NM_000051.4(ATM):c.4897A>G (p.Arg1633Gly) rs1591685231
NM_000051.4(ATM):c.4932G>A (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.4938A>G (p.Lys1646=) rs1171877755
NM_000051.4(ATM):c.4941_4943del (p.Val1649del) rs1591692664
NM_000051.4(ATM):c.4947C>G (p.Val1649=) rs1436324961
NM_000051.4(ATM):c.496+4T>C rs587781375
NM_000051.4(ATM):c.4966A>C (p.Lys1656Gln) rs1565470010
NM_000051.4(ATM):c.496G>A (p.Glu166Lys) rs1565357473
NM_000051.4(ATM):c.497-2661A>G rs1591491477
NM_000051.4(ATM):c.4976T>G (p.Ile1659Arg) rs1555103271
NM_000051.4(ATM):c.4989T>G (p.Gly1663=) rs1591693006
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter) rs1555103301
NM_000051.4(ATM):c.503T>A (p.Phe168Tyr) rs1591499616
NM_000051.4(ATM):c.5050T>A (p.Ser1684Thr) rs1591702098
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5086T>G (p.Tyr1696Asp) rs1591702471
NM_000051.4(ATM):c.508_509GT[1] (p.Tyr171fs) rs1591499665
NM_000051.4(ATM):c.5107T>C (p.Phe1703Leu) rs1591702635
NM_000051.4(ATM):c.5116A>G (p.Lys1706Glu) rs1291151519
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter) rs1591702911
NM_000051.4(ATM):c.5156del (p.Asn1719fs) rs1591702951
NM_000051.4(ATM):c.5164C>T (p.Leu1722=) rs1255639252
NM_000051.4(ATM):c.516C>T (p.Phe172=) rs1591499730
NM_000051.4(ATM):c.5178-1G>T rs1555105579
NM_000051.4(ATM):c.517A>C (p.Arg173=) rs1591499740
NM_000051.4(ATM):c.5183A>C (p.Lys1728Thr) rs1060501613
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr) rs1591708460
NM_000051.4(ATM):c.51T>C (p.His17=) rs1591446045
NM_000051.4(ATM):c.520C>A (p.Leu174Ile) rs1565369274
NM_000051.4(ATM):c.5210T>G (p.Leu1737Trp) rs1591708558
NM_000051.4(ATM):c.5210_5212delinsGT (p.Leu1737fs) rs1591708568
NM_000051.4(ATM):c.5211_5222del (p.Lys1738_Leu1741del) rs1591708546
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe) rs1591708658
NM_000051.4(ATM):c.5235T>C (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.525T>G (p.Tyr175Ter) rs1363186839
NM_000051.4(ATM):c.5269A>G (p.Thr1757Ala) rs1591708923
NM_000051.4(ATM):c.5272G>C (p.Asp1758His) rs1591708951
NM_000051.4(ATM):c.5311A>G (p.Arg1771Gly) rs1591709145
NM_000051.4(ATM):c.5313A>G (p.Arg1771=) rs1591709164
NM_000051.4(ATM):c.5314A>G (p.Lys1772Glu) rs1591709181
NM_000051.4(ATM):c.5319+4T>A rs1170957197
NM_000051.4(ATM):c.5344A>G (p.Lys1782Glu) rs1591712154
NM_000051.4(ATM):c.537A>C (p.Ser179=) rs1555066338
NM_000051.4(ATM):c.5380C>G (p.Leu1794Val) rs1591712398
NM_000051.4(ATM):c.5405A>T (p.His1802Leu) rs878853521
NM_000051.4(ATM):c.5419A>C (p.Lys1807Gln) rs1591712583
NM_000051.4(ATM):c.5443_5474dup (p.Leu1826fs) rs1591712726
NM_000051.4(ATM):c.5460A>G (p.Lys1820=) rs1591712836
NM_000051.4(ATM):c.5494G>A (p.Glu1832Lys) rs1591713057
NM_000051.4(ATM):c.5496A>G (p.Glu1832=) rs1591713080
NM_000051.4(ATM):c.549T>C (p.His183=) rs1591499967
NM_000051.4(ATM):c.5503del (p.Thr1835fs) rs1591717467
NM_000051.4(ATM):c.5539C>G (p.His1847Asp) rs1591717732
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
NM_000051.4(ATM):c.557dup (p.Leu186fs) rs1591500005
NM_000051.4(ATM):c.560T>C (p.Val187Ala) rs1591500044
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5658T>A (p.Pro1886=) rs940182945
NM_000051.4(ATM):c.5661A>T (p.Ala1887=) rs876658939
NM_000051.4(ATM):c.5675-5G>A rs1591731701
NM_000051.4(ATM):c.5690del (p.Phe1897fs) rs1591731851
NM_000051.4(ATM):c.5693G>T (p.Arg1898Leu) rs370680798
NM_000051.4(ATM):c.5697C>T (p.Cys1899=) rs753839301
NM_000051.4(ATM):c.5717A>G (p.Gln1906Arg) rs1591732095
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs) rs1591732123
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.577G>A (p.Ala193Thr) rs876659832
NM_000051.4(ATM):c.580G>C (p.Val194Leu) rs1591500206
NM_000051.4(ATM):c.583del (p.Thr195fs) rs1591500220
NM_000051.4(ATM):c.594C>G (p.Cys198Trp) rs1591500282
NM_000051.4(ATM):c.597T>G (p.Cys199Trp) rs1565369633
NM_000051.4(ATM):c.601C>G (p.Gln201Glu) rs886039666
NM_000051.4(ATM):c.635T>C (p.Phe212Ser) rs1591500544
NM_000051.4(ATM):c.640dup (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.648T>C (p.Ala216=) rs770270310
NM_000051.4(ATM):c.654G>C (p.Gln218His) rs1555066555
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059
NM_000051.4(ATM):c.663-5C>A rs1591503207
NM_000051.4(ATM):c.663-5C>T rs1591503207
NM_000051.4(ATM):c.686T>C (p.Leu229Pro) rs1591503381
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229
NM_000051.4(ATM):c.696C>T (p.Ile232=) rs1591503507
NM_000051.4(ATM):c.704del (p.Ala235fs) rs1591503565
NM_000051.4(ATM):c.705T>C (p.Ala235=) rs756175724
NM_000051.4(ATM):c.737A>C (p.Asn246Thr) rs781023264
NM_000051.4(ATM):c.744A>C (p.Arg248=) rs1591503905
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.4(ATM):c.752T>G (p.Val251Gly) rs1591503977
NM_000051.4(ATM):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.765A>C (p.Gly255=) rs1591504056
NM_000051.4(ATM):c.780C>T (p.Pro260=) rs1591504144
NM_000051.4(ATM):c.790T>A (p.Tyr264Asn) rs1591504199
NM_000051.4(ATM):c.79G>T (p.Val27Phe) rs754770960
NM_000051.4(ATM):c.805C>T (p.His269Tyr) rs1591504278
NM_000051.4(ATM):c.812T>G (p.Leu271Arg) rs1314281091
NM_000051.4(ATM):c.840T>G (p.Ile280Met) rs1591504482
NM_000051.4(ATM):c.854T>C (p.Leu285Pro) rs864622605
NM_000051.4(ATM):c.857A>G (p.Gln286Arg) rs1591504622
NM_000051.4(ATM):c.876G>T (p.Pro292=) rs755860432
NM_000051.4(ATM):c.877A>G (p.Lys293Glu) rs1057516442
NM_000051.4(ATM):c.886A>G (p.Lys296Glu) rs1591504793
NM_000051.4(ATM):c.890C>T (p.Thr297Ile) rs969263740
NM_000051.4(ATM):c.902-1G>A rs1064793518
NM_000051.4(ATM):c.905C>G (p.Ala302Gly) rs778442248
NM_000051.4(ATM):c.914C>T (p.Ser305Leu) rs1591510485
NM_000051.4(ATM):c.923G>A (p.Trp308Ter) rs1591510553
NM_000051.4(ATM):c.93G>A (p.Lys31=) rs863224583
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000051.4(ATM):c.954G>A (p.Leu318=) rs1591510739
NM_000051.4(ATM):c.976A>T (p.Ile326Leu) rs1555068422
NM_000051.4(ATM):c.986G>C (p.Arg329Thr) rs776938735
NM_001351834.2(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_001351834.2(ATM):c.1249del (p.Thr417fs) rs786203166
NM_001351834.2(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_001351834.2(ATM):c.1392_1393GT[1] (p.Cys465fs) rs876659866
NM_001351834.2(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_001351834.2(ATM):c.1562_1563GA[1] (p.Glu522fs) rs587779817
NM_001351834.2(ATM):c.1738_1739CT[1] (p.Leu581fs) rs1131691151
NM_001351834.2(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_001351834.2(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_001351834.2(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_001351834.2(ATM):c.2335_2337ATG[1] (p.Met780del) rs1555075763
NM_001351834.2(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_001351834.2(ATM):c.2718_2719GT[1] (p.Leu906_Cys907insTer) rs786202695
NM_001351834.2(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_001351834.2(ATM):c.3243_3245TCA[1] (p.His1083del) rs1591609996
NM_001351834.2(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_001351834.2(ATM):c.3403-13dup rs3218681
NM_001351834.2(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_001351834.2(ATM):c.3707_3711TTATT[1] (p.Leu1238fs) rs786201675
NM_001351834.2(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_001351834.2(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_001351834.2(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_001351834.2(ATM):c.4082_4083AG[1] (p.Ser1362fs) rs886039488
NM_001351834.2(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_001351834.2(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_001351834.2(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_001351834.2(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_001351834.2(ATM):c.4994_4996AAG[1] (p.Glu1666del) rs876660918
NM_001351834.2(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_001351834.2(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_001351834.2(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_001351834.2(ATM):c.5679_5680AG[1] (p.Glu1894fs) rs1060501580
NM_001351834.2(ATM):c.964_968del (p.Glu322fs) rs1555068404
NM_001351834.2(ATM):c.975_976TA[1] (p.Ile326fs) rs876658832

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