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: 1788
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HGVS dbSNP
NM_000051.3(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
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.1010G>A (p.Arg337His) rs202160435
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>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>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.103C>T (p.Arg35Ter) 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.1048G>A (p.Ala350Thr) rs371713984
NM_000051.3(ATM):c.1049C>T (p.Ala350Val) rs375049090
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.1063C>T (p.Gln355Ter) rs1555068615
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1065+3A>G rs1282724169
NM_000051.3(ATM):c.1066-1G>A rs876660038
NM_000051.3(ATM):c.1066-6T>G rs201686625
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.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>T (p.Val4Leu) rs1438588853
NM_000051.3(ATM):c.1104A>G (p.Gln368=) rs560691658
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.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.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.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>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.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+5delAA 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.1236-3delT rs34325032
NM_000051.3(ATM):c.1236-3dup rs34325032
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.1249del (p.Thr417fs) rs786203166
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.125A>G (p.His42Arg) rs201773026
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.127C>G (p.Leu43Val) rs772591447
NM_000051.3(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.3(ATM):c.1292A>C (p.Glu431Ala) rs1320262218
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.1319C>T (p.Ser440Phe) rs773895161
NM_000051.3(ATM):c.131A>G (p.Asp44Gly) rs150143957
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.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.1343A>G (p.His448Arg) rs1555070781
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.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>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>A (p.Arg457Gln) 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.1392_1393GT[1] (p.Cys465fs) rs876659866
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.1402_1403del (p.Lys468fs) rs587781347
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>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.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.1444A>C (p.Lys482Gln) rs202173660
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.1467dup (p.Ile490fs) rs1555071002
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.1492G>C (p.Glu498Gln) rs1555071060
NM_000051.3(ATM):c.1494G>A (p.Glu498=) rs763108858
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.1516G>T (p.Gly506Cys) rs587779816
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.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.1562_1563GA[1] (p.Glu522fs) rs587779817
NM_000051.3(ATM):c.156A>C (p.Gly52=) rs876660725
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.1591G>C (p.Ala531Pro) rs876660941
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
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.1607+1G>T rs772926890
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.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.1656A>G (p.Pro552=) rs1060504275
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.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1704A>C (p.Arg568Ser) rs878853488
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.1722A>C (p.Glu574Asp) rs372334891
NM_000051.3(ATM):c.1722A>G (p.Glu574=) rs372334891
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.1738_1739CT[1] (p.Leu581fs) rs1131691151
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>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.1792A>G (p.Ile598Val) rs730881343
NM_000051.3(ATM):c.1794T>C (p.Ile598=) rs786201830
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.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1813C>T (p.His605Tyr) rs786202928
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.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.1899-3A>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.1911A>G (p.Gln637=) rs764790965
NM_000051.3(ATM):c.1914A>C (p.Lys638Asn) rs587781753
NM_000051.3(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.3(ATM):c.1921_1923GAA[1] (p.Glu642del) rs876659575
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.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1935C>T (p.Phe645=) rs876659709
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.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.2021A>G (p.His674Arg) rs201762714
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>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.2048A>G (p.His683Arg) rs1421091487
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>T (p.Asn685Ile) rs1412443702
NM_000051.3(ATM):c.2057T>A (p.Leu686His) rs1239416977
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.2064A>G (p.Glu688=) rs772739433
NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) rs765965513
NM_000051.3(ATM):c.2075G>T (p.Arg692Leu) 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.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.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.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.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2211A>G (p.Glu737=) rs1555074990
NM_000051.3(ATM):c.2218G>A (p.Ala740Thr) rs786201866
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
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.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.2251-1G>C rs876659710
NM_000051.3(ATM):c.2251-4A>G rs786202935
NM_000051.3(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.3(ATM):c.2258T>C (p.Met753Thr) rs587781607
NM_000051.3(ATM):c.2260C>A (p.Gln754Lys) rs3205809
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.2281A>G (p.Thr761Ala) rs2235011
NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) rs2235011
NM_000051.3(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
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.2289T>A (p.Phe763Leu) rs34231402
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.2335_2337ATG[1] (p.Met780del) rs1555075763
NM_000051.3(ATM):c.2336T>C (p.Met779Thr) rs587778066
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.2353C>T (p.Arg785Cys) rs587778065
NM_000051.3(ATM):c.2354G>A (p.Arg785His) rs587782128
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
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>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.2413C>T (p.Arg805Ter) rs780619951
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.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.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.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.2462G>C (p.Ser821Thr) rs1555076748
NM_000051.3(ATM):c.2466+1delG rs786202783
NM_000051.3(ATM):c.2466+4A>C rs563482577
NM_000051.3(ATM):c.2466+4A>G rs563482577
NM_000051.3(ATM):c.2466A>G (p.Leu822=) rs747108452
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.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2480A>G (p.Lys827Arg) rs372230498
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>T (p.Arg832Cys) 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.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>T (p.Met847Leu) rs587779823
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.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.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.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.2606C>G (p.Ala869Gly) 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+1delG 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.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.2690T>C (p.Phe897Ser) rs876658373
NM_000051.3(ATM):c.2694A>T (p.Leu898Phe) rs774395596
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.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.2718_2719GT[1] (p.Leu906_Cys907insTer) rs786202695
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.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.2735A>G (p.Gln912Arg) rs730881353
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.2749dup (p.Ser917fs) rs1555083315
NM_000051.3(ATM):c.2751C>G (p.Ser917=) rs876659611
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.2770C>T (p.Arg924Trp) rs55723361
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>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>T (p.Lys940Ile) rs762078586
NM_000051.3(ATM):c.2824C>T (p.Leu942Phe) rs3218688
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.2839-5C>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.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>A (p.Pro960His) rs587779828
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.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.2927T>C (p.Val976Ala) rs146145357
NM_000051.3(ATM):c.2930G>A (p.Cys977Tyr) rs876660628
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
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.2944C>T (p.Arg982Cys) rs587779830
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.295A>G (p.Ser99Gly) rs137882485
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.2987A>G (p.His996Arg) rs876660034
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.2994G>A (p.Val998=) rs1555085118
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
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.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.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.3071C>T (p.Ala1024Val) rs746133264
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.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>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.3154-5C>T rs55719759
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>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.3196A>C (p.Lys1066Gln) rs1555086041
NM_000051.3(ATM):c.3204T>C (p.Phe1068=) rs1555086059
NM_000051.3(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.3(ATM):c.3208G>T (p.Val1070Leu) rs587780620
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
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.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.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.3240C>A (p.Asp1080Glu) rs149911447
NM_000051.3(ATM):c.3242A>G (p.Asn1081Ser) rs368111672
NM_000051.3(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.3(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.3(ATM):c.3256C>T (p.Arg1086Cys) rs201780199
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.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.3295G>A (p.Asp1099Asn) rs372966951
NM_000051.3(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951
NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) rs189445371
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>T (p.Gly1102Ter) rs147557621
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+5G>A rs752135143
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.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.334G>A (p.Ala112Thr) rs146382972
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.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.3385G>A (p.Glu1129Lys) rs876658463
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.3407A>G (p.His1136Arg) rs768490475
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.342G>A (p.Arg114=) rs1555059036
NM_000051.3(ATM):c.3430_3431del (p.Leu1144fs) rs1555091158
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.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.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.3520T>G (p.Phe1174Val) rs547400704
NM_000051.3(ATM):c.3521T>C (p.Phe1174Ser) rs1416574870
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.3537_3538TG[1] (p.Val1180fs) rs1555091367
NM_000051.3(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
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.3576G>A (p.Lys1192=) rs587776551
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.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.3(ATM):c.3601T>A (p.Phe1201Ile) rs576884305
NM_000051.3(ATM):c.3605G>C (p.Gly1202Ala) rs1555092285
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.3626_3627del (p.Phe1209fs) rs587782861
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.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.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.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.3707_3711TTATT[1] (p.Leu1238fs) rs786201675
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.373A>G (p.Met125Val) rs761137313
NM_000051.3(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370
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_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3760del (p.Val1254fs) rs786203507
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.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.3812T>G (p.Ile1271Ser) rs1308232635
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.381del (p.Thr127_Val128insTer) rs587781831
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.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.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>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.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.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.392C>A (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.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.395C>T (p.Ser132Phe) rs750969764
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.3978C>A (p.Asn1326Lys) rs778123057
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.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.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3994-2A>G rs587782276
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.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.4032G>C (p.Val1344=) rs769871715
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.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.4060C>A (p.Pro1354Thr) rs145119475
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.4077C>G (p.Ala1359=) rs375606854
NM_000051.3(ATM):c.4079G>A (p.Ser1360Asn) rs764564211
NM_000051.3(ATM):c.4082A>G (p.Gln1361Arg) rs141921797
NM_000051.3(ATM):c.4082_4083AG[1] (p.Ser1362fs) rs886039488
NM_000051.3(ATM):c.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.3(ATM):c.4091A>G (p.Asp1364Gly) rs751169467
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.4096_4097TG[1] (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.3(ATM):c.4101C>T (p.Asp1367=) rs587780623
NM_000051.3(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
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.4111delG rs797045114
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.4133C>T (p.Pro1378Leu) rs750771205
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4143dup (p.Pro1382fs) rs730881309
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>T (p.Ser1383Leu) 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.4151A>G (p.His1384Arg) 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.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.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.4255_4257CTT[1] (p.Leu1420del) rs876659842
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.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.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.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.4388T>G (p.Phe1463Cys) rs138327406
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.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.3(ATM):c.4397G>A (p.Arg1466Gln) rs749770110
NM_000051.3(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
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.4401C>T (p.Asp1467=) rs876660356
NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4414T>G (p.Leu1472Val) rs539676759
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.4424A>G (p.Tyr1475Cys) rs34640941
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.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.4439_4441CTT[1] (p.Ser1481del) rs786202338
NM_000051.3(ATM):c.4442C>T (p.Ser1481Phe) rs863224572
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.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.4515C>A (p.Ala1505=) rs540798997
NM_000051.3(ATM):c.4515C>T (p.Ala1505=) rs540798997
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.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.3(ATM):c.4545C>T (p.Asn1515=) rs764039368
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.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>T (p.Pro1526Ser) rs748898098
NM_000051.3(ATM):c.4577C>A (p.Pro1526His) rs770590652
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4579C>G (p.Leu1527Val) rs1555099997
NM_000051.3(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.3(ATM):c.4606A>G (p.Lys1536Glu) rs587779841
NM_000051.3(ATM):c.4612-4T>G rs569983068
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.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.3(ATM):c.4638_4641GATA[1] (p.Asp1548fs) rs876659535
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.4709T>C (p.Val1570Ala) rs140856217
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.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>C 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.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.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.3(ATM):c.4802_4803GT[1] (p.Val1602fs) rs864622290
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.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.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.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.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.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.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.496+1G>A rs876658500
NM_000051.3(ATM):c.496+3A>G rs876658311
NM_000051.3(ATM):c.496+4T>C rs587781375
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.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.497-4_497-3insT rs768748099
NM_000051.3(ATM):c.497-4delT 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.4980C>T (p.Asn1660=) rs144338238
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.4994_4996AAG[1] (p.Glu1666del) rs876660918
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.5006-5T>A rs1555104475
NM_000051.3(ATM):c.5009C>T (p.Ala1670Val) rs375131360
NM_000051.3(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.3(ATM):c.501G>A (p.Leu167=) rs1181703620
NM_000051.3(ATM):c.5023T>C (p.Leu1675=) rs876660275
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.5042T>C (p.Ile1681Thr) rs1307715383
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.5071A>C (p.Ser1691Arg) rs1800059
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.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.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.5122C>T (p.Leu1708Phe) rs1555104730
NM_000051.3(ATM):c.5125C>A (p.Gln1709Lys) rs1341457041
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.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.5177+1G>A rs1131691159
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.5185G>C (p.Val1729Leu) rs3092907
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.519G>T (p.Arg173Ser) rs587781391
NM_000051.3(ATM):c.5217C>T (p.Asn1739=) rs876658271
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>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.5250G>T (p.Trp1750Cys) rs587779845
NM_000051.3(ATM):c.5256T>C (p.Ile1752=) rs1555105718
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.5267C>G (p.Thr1756Arg) rs786203369
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.5290del (p.Leu1764fs) rs587779846
NM_000051.3(ATM):c.5292A>G (p.Leu1764=) rs786201703
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.5320-5T>C rs1555106308
NM_000051.3(ATM):c.5320-5_5320-2delTCTA 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.5349A>G (p.Glu1783=) rs1555106353
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
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.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.5402dup (p.Asn1801fs) rs1555106438
NM_000051.3(ATM):c.5410A>T (p.Ile1804Phe) rs769872474
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.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.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.5524C>T (p.Leu1842Phe) rs956546711
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.5557G>A (p.Asp1853Asn) rs1801516
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.5566G>A (p.Glu1856Lys) rs1465041573
NM_000051.3(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
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.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>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.5631_5635delinsA (p.Phe1877fs) rs758852420
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>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.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.5675-3C>G rs876658545
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.5679_5680AG[1] (p.Glu1894fs) rs1060501580
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.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.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.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>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.5753G>C (p.Arg1918Thr) rs148064985
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.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.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.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.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.655T>C (p.Cys219Arg) rs771685059
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.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.687A>G (p.Leu229=) rs3218706
NM_000051.3(ATM):c.689A>G (p.Asn230Ser) rs876659494
NM_000051.3(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.3(ATM):c.692A>G (p.His231Arg) rs587782229
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.707T>C (p.Leu236Pro) rs876659813
NM_000051.3(ATM):c.708del (p.Thr237fs) rs1555067034
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.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.748C>T (p.Arg250Ter) rs772821016
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.3(ATM):c.753G>A (p.Val251=) rs876658806
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.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.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.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.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.900del (p.Gly301fs) rs1555067335
NM_000051.3(ATM):c.901+1G>A 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.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.949G>T (p.Asp317Tyr) rs1445292591
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
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.964_968del (p.Glu322fs) rs1555068404
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.975_976TA[1] (p.Ile326fs) rs876658832
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.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_001351834.2(ATM):c.3403-13dup rs3218681

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.