ClinVar Miner

List of variants in gene ATM reported as uncertain significance for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1649
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HGVS dbSNP
NC_000011.9:g.(?_108098342)_(108117864_?)dup
NC_000011.9:g.(?_108098346)_(108151901_?)dup
NC_000011.9:g.(?_108126936)_(108129808_?)dup
NC_000011.9:g.(?_108128198)_(108129812_?)del
NC_000011.9:g.(?_108143253)_(108153612_?)dup
NM_000051.3(ATM):c.(?_-1)_4109+?dup
NM_000051.3(ATM):c.-111_-109delinsAC rs1555051087
NM_000051.3(ATM):c.-186G>A rs879725890
NM_000051.3(ATM):c.-218T>A rs886047609
NM_000051.3(ATM):c.-222T>A rs557953523
NM_000051.3(ATM):c.-229C>G rs886047608
NM_000051.3(ATM):c.-235del rs886047607
NM_000051.3(ATM):c.-274G>A rs886047606
NM_000051.3(ATM):c.-31+595G>A rs1555051574
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.3(ATM):c.-74G>A rs3205808
NM_000051.3(ATM):c.-94G>A rs766115348
NM_000051.3(ATM):c.1004G>A (p.Gly335Glu)
NM_000051.3(ATM):c.1007T>G (p.Phe336Cys) rs1018587967
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.3(ATM):c.1019C>G (p.Ala340Gly) rs730881387
NM_000051.3(ATM):c.1019C>T (p.Ala340Val)
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.1030A>T (p.Asn344Tyr) rs587782526
NM_000051.3(ATM):c.1036A>G (p.Ile346Val) rs1565375699
NM_000051.3(ATM):c.1037T>A (p.Ile346Asn) rs1060501526
NM_000051.3(ATM):c.1038T>G (p.Ile346Met) rs749950833
NM_000051.3(ATM):c.1039G>C (p.Glu347Gln) rs529202615
NM_000051.3(ATM):c.1039_1040delinsTT (p.Glu347Leu) rs1555068567
NM_000051.3(ATM):c.1046T>C (p.Met349Thr) rs1555068577
NM_000051.3(ATM):c.1047G>A (p.Met349Ile) rs768480943
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.1052A>T (p.Asp351Val) rs1057521618
NM_000051.3(ATM):c.1055T>C (p.Ile352Thr) rs369203092
NM_000051.3(ATM):c.1056C>G (p.Ile352Met) rs1555068605
NM_000051.3(ATM):c.1065+5A>T rs1204741025
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1079A>G (p.Asp360Gly) rs775767808
NM_000051.3(ATM):c.107A>G (p.Asp36Gly) rs1488019755
NM_000051.3(ATM):c.1080T>G (p.Asp360Glu) rs199869975
NM_000051.3(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.3(ATM):c.1082C>G (p.Thr361Ser)
NM_000051.3(ATM):c.1086A>G (p.Arg362=) rs142591268
NM_000051.3(ATM):c.1088C>T (p.Ser363Phe) rs1555069560
NM_000051.3(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.3(ATM):c.10G>A (p.Val4Ile) rs1438588853
NM_000051.3(ATM):c.1102C>G (p.Gln368Glu) rs1565378912
NM_000051.3(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.3(ATM):c.1111A>G (p.Thr371Ala) rs1565378985
NM_000051.3(ATM):c.1112C>G (p.Thr371Ser)
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.112G>A (p.Glu38Lys)
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.1133G>A (p.Ser378Asn)
NM_000051.3(ATM):c.1135G>A (p.Asp379Asn)
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.1147C>T (p.Pro383Ser) rs864622650
NM_000051.3(ATM):c.1148C>G (p.Pro383Arg) rs1555069702
NM_000051.3(ATM):c.1152C>G (p.Cys384Trp) rs777755997
NM_000051.3(ATM):c.1157G>A (p.Arg386Lys) rs878853484
NM_000051.3(ATM):c.1159A>C (p.Lys387Gln) 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.1162A>G (p.Lys388Glu) rs876659570
NM_000051.3(ATM):c.1163A>G (p.Lys388Arg) rs1060501618
NM_000051.3(ATM):c.1165A>C (p.Ile389Leu) rs1060501704
NM_000051.3(ATM):c.1165A>G (p.Ile389Val) rs1060501704
NM_000051.3(ATM):c.1166T>C (p.Ile389Thr) rs757486696
NM_000051.3(ATM):c.1166T>G (p.Ile389Arg)
NM_000051.3(ATM):c.1175G>T (p.Gly392Val) rs779035681
NM_000051.3(ATM):c.1178G>T (p.Trp393Leu) rs1025339570
NM_000051.3(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.3(ATM):c.1192G>A (p.Asp398Asn) rs876658833
NM_000051.3(ATM):c.1197C>G (p.His399Gln)
NM_000051.3(ATM):c.11T>C (p.Val4Ala) rs1555053873
NM_000051.3(ATM):c.1210C>G (p.Gln404Glu) rs730881340
NM_000051.3(ATM):c.1219_1221dup (p.Phe407dup) rs1064792998
NM_000051.3(ATM):c.121A>G (p.Lys41Glu) rs1060501672
NM_000051.3(ATM):c.1222G>A (p.Asp408Asn) rs864622548
NM_000051.3(ATM):c.1223A>G (p.Asp408Gly) rs587781582
NM_000051.3(ATM):c.1225C>T (p.Leu409Phe) rs786203815
NM_000051.3(ATM):c.1228G>A (p.Val410Met) rs863224555
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+4_1235+5del rs770033355
NM_000051.3(ATM):c.1235+5A>C rs1064793679
NM_000051.3(ATM):c.1236-3T>A rs763976313
NM_000051.3(ATM):c.1236-3T>C rs763976313
NM_000051.3(ATM):c.1236G>T (p.Trp412Cys)
NM_000051.3(ATM):c.1244T>A (p.Ile415Asn) rs1565381748
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.1258A>C (p.Ile420Leu) rs1565381867
NM_000051.3(ATM):c.1259_1264del (p.Ile420_Ser421del) rs1555070659
NM_000051.3(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.3(ATM):c.1261T>C (p.Ser421Pro) rs376196220
NM_000051.3(ATM):c.1271C>A (p.Pro424His) rs147472613
NM_000051.3(ATM):c.1271C>T (p.Pro424Leu) rs147472613
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1273G>T (p.Ala425Ser)
NM_000051.3(ATM):c.1277G>A (p.Ser426Asn) rs1350528190
NM_000051.3(ATM):c.127C>A (p.Leu43Ile)
NM_000051.3(ATM):c.127C>G (p.Leu43Val) rs772591447
NM_000051.3(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.3(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.3(ATM):c.1300C>T (p.Pro434Ser) rs1064795171
NM_000051.3(ATM):c.1307T>A (p.Leu436Gln) rs1060501608
NM_000051.3(ATM):c.130G>T (p.Asp44Tyr) rs1320733816
NM_000051.3(ATM):c.131A>G (p.Asp44Gly) rs150143957
NM_000051.3(ATM):c.1324C>T (p.Leu442Phe) rs1060501574
NM_000051.3(ATM):c.1334A>G (p.Gln445Arg)
NM_000051.3(ATM):c.1335A>G (p.Gln445=) rs1385656085
NM_000051.3(ATM):c.133C>T (p.Arg45Trp) rs3218684
NM_000051.3(ATM):c.1340G>A (p.Arg447Gln) rs760676955
NM_000051.3(ATM):c.1340G>T (p.Arg447Leu) rs760676955
NM_000051.3(ATM):c.1346G>A (p.Gly449Glu) rs1163918420
NM_000051.3(ATM):c.1348G>A (p.Glu450Lys) rs1555070786
NM_000051.3(ATM):c.134G>A (p.Arg45Gln) rs762382111
NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) rs201719927
NM_000051.3(ATM):c.1352G>A (p.Arg451His) rs554805703
NM_000051.3(ATM):c.1354A>T (p.Thr452Ser)
NM_000051.3(ATM):c.1358C>T (p.Pro453Leu) rs786204124
NM_000051.3(ATM):c.1359A>G (p.Pro453=) rs786203693
NM_000051.3(ATM):c.1360T>C (p.Tyr454His) rs1555070814
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.1369C>G (p.Arg457Gly) rs749036865
NM_000051.3(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.3(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.3(ATM):c.1372T>C (p.Cys458Arg) rs876660619
NM_000051.3(ATM):c.1373G>A (p.Cys458Tyr) rs1064796013
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.137A>C (p.His46Pro)
NM_000051.3(ATM):c.1380G>A (p.Thr460=) rs145333518
NM_000051.3(ATM):c.1381G>A (p.Glu461Lys)
NM_000051.3(ATM):c.1385T>C (p.Val462Ala) rs1555070869
NM_000051.3(ATM):c.1387G>A (p.Ala463Thr) rs1565382695
NM_000051.3(ATM):c.1398A>G (p.Gln466=)
NM_000051.3(ATM):c.1403A>G (p.Lys468Arg) rs1060501628
NM_000051.3(ATM):c.1417G>A (p.Glu473Lys) rs1565382834
NM_000051.3(ATM):c.1418A>G (p.Glu473Gly) rs1555070923
NM_000051.3(ATM):c.1421G>A (p.Ser474Asn)
NM_000051.3(ATM):c.1421G>T (p.Ser474Ile) rs876659240
NM_000051.3(ATM):c.1427A>G (p.Gln476Arg) rs1397399631
NM_000051.3(ATM):c.1431G>C (p.Lys477Asn) rs1555070941
NM_000051.3(ATM):c.1435G>T (p.Asp479Tyr) rs1555070953
NM_000051.3(ATM):c.1436A>G (p.Asp479Gly) rs1555070958
NM_000051.3(ATM):c.1440A>C (p.Leu480Phe) rs370240037
NM_000051.3(ATM):c.1440A>T (p.Leu480Phe) rs370240037
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>G (p.Asn485Lys) rs1385019623
NM_000051.3(ATM):c.1464G>T (p.Trp488Cys) rs377597949
NM_000051.3(ATM):c.1466G>T (p.Cys489Phe) rs776412334
NM_000051.3(ATM):c.1468A>G (p.Ile490Val) rs761850075
NM_000051.3(ATM):c.1469T>C (p.Ile490Thr) rs1565383172
NM_000051.3(ATM):c.146C>T (p.Ser49Phe) rs1800054
NM_000051.3(ATM):c.1477C>T (p.Arg493Cys) rs750280306
NM_000051.3(ATM):c.1478G>A (p.Arg493His) rs1565383235
NM_000051.3(ATM):c.1481G>A (p.Gly494Asp) rs786202233
NM_000051.3(ATM):c.1481G>T (p.Gly494Val) rs786202233
NM_000051.3(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.3(ATM):c.1485A>G (p.Ile495Met) rs1565383283
NM_000051.3(ATM):c.1487G>A (p.Ser496Asn) rs778890679
NM_000051.3(ATM):c.1487G>T (p.Ser496Ile) rs778890679
NM_000051.3(ATM):c.1492G>C (p.Glu498Gln) rs1555071060
NM_000051.3(ATM):c.149A>G (p.Lys50Arg) rs1479478300
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.1513T>C (p.Phe505Leu)
NM_000051.3(ATM):c.1516G>T (p.Gly506Cys) rs587779816
NM_000051.3(ATM):c.1522C>T (p.Leu508Phe) rs1011518082
NM_000051.3(ATM):c.1531A>G (p.Ile511Val)
NM_000051.3(ATM):c.1538A>G (p.Gln513Arg) rs753109010
NM_000051.3(ATM):c.1538A>T (p.Gln513Leu) rs753109010
NM_000051.3(ATM):c.1550T>C (p.Val517Ala) rs777986229
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.1555G>T (p.Val519Phe)
NM_000051.3(ATM):c.1556T>C (p.Val519Ala) rs574458765
NM_000051.3(ATM):c.1572G>C (p.Trp524Cys) rs1060501667
NM_000051.3(ATM):c.1575G>C (p.Lys525Asn) rs587780613
NM_000051.3(ATM):c.1579T>C (p.Phe527Leu) rs864622262
NM_000051.3(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.3(ATM):c.1586G>A (p.Gly529Glu) rs1555071242
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1601C>T (p.Pro534Leu)
NM_000051.3(ATM):c.1607+5G>A rs766535949
NM_000051.3(ATM):c.1608-3T>C rs774196176
NM_000051.3(ATM):c.1610C>A (p.Pro537His) rs587782463
NM_000051.3(ATM):c.1613C>T (p.Ala538Val) rs1565385040
NM_000051.3(ATM):c.1614A>G (p.Ala538=) rs876659636
NM_000051.3(ATM):c.1622G>C (p.Cys541Ser) rs1555071682
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.1631T>C (p.Leu544Ser) rs375754332
NM_000051.3(ATM):c.1633G>A (p.Ala545Thr) rs1565385130
NM_000051.3(ATM):c.1634C>T (p.Ala545Val) rs878853485
NM_000051.3(ATM):c.1637T>C (p.Leu546Pro) rs1565385177
NM_000051.3(ATM):c.1640C>T (p.Thr547Ile) rs786203572
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.164T>G (p.Leu55Trp) rs1565344888
NM_000051.3(ATM):c.1650A>G (p.Ile550Met) rs1060501606
NM_000051.3(ATM):c.165G>C (p.Leu55Phe) rs1555054230
NM_000051.3(ATM):c.1661C>T (p.Thr554Met) rs1060501694
NM_000051.3(ATM):c.1669A>G (p.Met557Val) rs1427517965
NM_000051.3(ATM):c.1670T>C (p.Met557Thr) rs786202770
NM_000051.3(ATM):c.1670T>G (p.Met557Arg) rs786202770
NM_000051.3(ATM):c.1671G>A (p.Met557Ile) rs730881341
NM_000051.3(ATM):c.1675A>G (p.Ile559Val) rs1060501545
NM_000051.3(ATM):c.1685A>C (p.Asn562Thr)
NM_000051.3(ATM):c.1685A>G (p.Asn562Ser) rs368209025
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.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.1709T>C (p.Phe570Ser)
NM_000051.3(ATM):c.1720G>C (p.Glu574Gln)
NM_000051.3(ATM):c.1721A>C (p.Glu574Ala) rs1565385690
NM_000051.3(ATM):c.1722A>C (p.Glu574Asp) rs372334891
NM_000051.3(ATM):c.1723T>A (p.Ser575Thr) rs1565385720
NM_000051.3(ATM):c.1726A>G (p.Ile576Val) rs1064795170
NM_000051.3(ATM):c.1727T>C (p.Ile576Thr) rs730881342
NM_000051.3(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.3(ATM):c.1733A>G (p.Lys578Arg)
NM_000051.3(ATM):c.1739T>C (p.Leu580Pro)
NM_000051.3(ATM):c.1741T>G (p.Leu581Val) rs876659822
NM_000051.3(ATM):c.1748A>C (p.Tyr583Ser) rs587780614
NM_000051.3(ATM):c.1748A>G (p.Tyr583Cys) rs587780614
NM_000051.3(ATM):c.1756G>C (p.Glu586Gln) rs1565386004
NM_000051.3(ATM):c.175G>T (p.Ala59Ser) rs752527112
NM_000051.3(ATM):c.1760G>A (p.Gly587Asp) rs1060501553
NM_000051.3(ATM):c.1760G>T (p.Gly587Val)
NM_000051.3(ATM):c.1768G>C (p.Glu590Gln) rs876659283
NM_000051.3(ATM):c.1774A>G (p.Ser592Gly) rs1060501558
NM_000051.3(ATM):c.1775G>A (p.Ser592Asn) rs776911505
NM_000051.3(ATM):c.1789C>G (p.Pro597Ala) rs1555072070
NM_000051.3(ATM):c.178G>C (p.Val60Leu) rs1166668199
NM_000051.3(ATM):c.1790C>T (p.Pro597Leu) rs765847854
NM_000051.3(ATM):c.1792A>C (p.Ile598Leu) rs730881343
NM_000051.3(ATM):c.1792A>G (p.Ile598Val) rs730881343
NM_000051.3(ATM):c.1795C>T (p.Leu599Phe) rs1312313805
NM_000051.3(ATM):c.1796T>C (p.Leu599Pro) rs1555072082
NM_000051.3(ATM):c.1798C>A (p.His600Asn) rs1555072089
NM_000051.3(ATM):c.179T>C (p.Val60Ala) rs988441570
NM_000051.3(ATM):c.1802+3A>G
NM_000051.3(ATM):c.1805A>G (p.Asn602Ser) rs1173305253
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1811C>T (p.Pro604Leu) rs1565387411
NM_000051.3(ATM):c.1813C>G (p.His605Asp) rs786202928
NM_000051.3(ATM):c.1814A>G (p.His605Arg) rs771877351
NM_000051.3(ATM):c.1819G>A (p.Val607Ile) rs878853489
NM_000051.3(ATM):c.1825G>C (p.Glu609Gln)
NM_000051.3(ATM):c.1829A>G (p.Lys610Arg) rs1555072464
NM_000051.3(ATM):c.1834C>T (p.Leu612Phe) rs747242300
NM_000051.3(ATM):c.1835T>A (p.Leu612His)
NM_000051.3(ATM):c.1835T>C (p.Leu612Pro) rs1555072474
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.1841G>T (p.Ser614Ile)
NM_000051.3(ATM):c.1842T>A (p.Ser614Arg) rs1060501523
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.1847C>T (p.Thr616Ile)
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.185+4T>G
NM_000051.3(ATM):c.1855A>C (p.Asn619His) rs140882609
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.1872G>C (p.Met624Ile) rs1060501530
NM_000051.3(ATM):c.1880T>G (p.Phe627Cys) rs546087885
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.1889T>C (p.Val630Ala) rs587782226
NM_000051.3(ATM):c.1892C>T (p.Pro631Leu) rs756782634
NM_000051.3(ATM):c.1898+3A>G rs200169643
NM_000051.3(ATM):c.1899-7C>A rs1060501584
NM_000051.3(ATM):c.1899T>G (p.Cys633Trp) rs1040176168
NM_000051.3(ATM):c.1901A>G (p.Glu634Gly)
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>A (p.His635Gln)
NM_000051.3(ATM):c.1905_1910del (p.His635_His636del) rs587781635
NM_000051.3(ATM):c.1906C>T (p.His636Tyr) rs786203654
NM_000051.3(ATM):c.1907A>G (p.His636Arg) rs1333990758
NM_000051.3(ATM):c.1910A>G (p.Gln637Arg) rs1565389611
NM_000051.3(ATM):c.1914A>C (p.Lys638Asn) rs587781753
NM_000051.3(ATM):c.1918A>G (p.Lys640Glu)
NM_000051.3(ATM):c.1930T>A (p.Ser644Thr) rs1555073128
NM_000051.3(ATM):c.1935C>G (p.Phe645Leu) rs876659709
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.194A>G (p.Gln65Arg) rs760471526
NM_000051.3(ATM):c.1952T>A (p.Leu651Gln)
NM_000051.3(ATM):c.1952T>C (p.Leu651Pro) rs1555073179
NM_000051.3(ATM):c.1954T>C (p.Phe652Leu) rs1565389902
NM_000051.3(ATM):c.195G>C (p.Gln65His) rs1555055072
NM_000051.3(ATM):c.1960C>A (p.Gln654Lys) 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.1967C>T (p.Thr656Ile)
NM_000051.3(ATM):c.196A>G (p.Lys66Glu) rs1565346656
NM_000051.3(ATM):c.1972G>A (p.Asp658Asn)
NM_000051.3(ATM):c.1973A>T (p.Asp658Val) rs1177954052
NM_000051.3(ATM):c.1974C>G (p.Asp658Glu) rs1555073229
NM_000051.3(ATM):c.1977G>T (p.Lys659Asn) rs1060501565
NM_000051.3(ATM):c.1979T>A (p.Met660Lys) rs1298234172
NM_000051.3(ATM):c.1979T>C (p.Met660Thr) rs1298234172
NM_000051.3(ATM):c.1981G>A (p.Asp661Asn) rs1029931261
NM_000051.3(ATM):c.1982A>C (p.Asp661Ala) rs1565390124
NM_000051.3(ATM):c.1993A>G (p.Ile665Val) rs1060501645
NM_000051.3(ATM):c.1994T>C (p.Ile665Thr) rs1064793789
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.2011A>G (p.Ile671Val) rs730881344
NM_000051.3(ATM):c.2012T>A (p.Ile671Lys) rs750897021
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.2027C>A (p.Ser676Tyr)
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2036G>T (p.Gly679Val) rs544123518
NM_000051.3(ATM):c.203T>C (p.Ile68Thr)
NM_000051.3(ATM):c.2042C>G (p.Ser681Cys) rs1060501585
NM_000051.3(ATM):c.2042C>T (p.Ser681Phe) rs1060501585
NM_000051.3(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.3(ATM):c.2050C>G (p.Gln684Glu) rs1060501691
NM_000051.3(ATM):c.2051A>G (p.Gln684Arg) rs772393149
NM_000051.3(ATM):c.2052G>C (p.Gln684His) rs775890872
NM_000051.3(ATM):c.2054A>G (p.Asn685Ser) rs1412443702
NM_000051.3(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.3(ATM):c.2057T>A (p.Leu686His) rs1239416977
NM_000051.3(ATM):c.205C>A (p.Gln69Lys)
NM_000051.3(ATM):c.2062G>A (p.Glu688Lys) rs769338089
NM_000051.3(ATM):c.2062G>C (p.Glu688Gln) rs769338089
NM_000051.3(ATM):c.2069T>C (p.Leu690Pro) rs1555073438
NM_000051.3(ATM):c.2071G>C (p.Asp691His)
NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) rs765965513
NM_000051.3(ATM):c.2075G>A (p.Arg692His) rs751515818
NM_000051.3(ATM):c.2095G>C (p.Glu699Gln) rs1060501539
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2104C>G (p.Leu702Val) rs1555073490
NM_000051.3(ATM):c.210A>T (p.Lys70Asn) rs1064793030
NM_000051.3(ATM):c.2111A>G (p.Asn704Ser) rs753903558
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.2124+6A>T rs550998406
NM_000051.3(ATM):c.2125A>G (p.Ile709Val) rs864622259
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.3(ATM):c.2129C>A (p.Thr710Lys) rs1565394456
NM_000051.3(ATM):c.2131A>G (p.Asn711Asp) rs587781654
NM_000051.3(ATM):c.2134T>G (p.Ser712Ala) rs1565394509
NM_000051.3(ATM):c.2141C>T (p.Thr714Ile) rs1555074846
NM_000051.3(ATM):c.2144T>C (p.Leu715Pro) rs1555074855
NM_000051.3(ATM):c.2147T>G (p.Val716Gly) rs864622294
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>G (p.Thr72Arg)
NM_000051.3(ATM):c.2167G>T (p.Val723Leu) rs1419404231
NM_000051.3(ATM):c.2168T>C (p.Val723Ala) rs745399310
NM_000051.3(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.3(ATM):c.2174T>A (p.Val725Asp) rs1565394761
NM_000051.3(ATM):c.2182T>A (p.Cys728Ser) rs1565394820
NM_000051.3(ATM):c.2189G>A (p.Cys730Tyr) rs587781595
NM_000051.3(ATM):c.2192A>T (p.Tyr731Phe) rs730881345
NM_000051.3(ATM):c.2194A>G (p.Met732Val)
NM_000051.3(ATM):c.2204T>C (p.Ile735Thr) rs1565395012
NM_000051.3(ATM):c.2207C>T (p.Ala736Val) rs587780617
NM_000051.3(ATM):c.220T>A (p.Cys74Ser) rs1565346819
NM_000051.3(ATM):c.2215G>A (p.Glu739Lys) rs1565395076
NM_000051.3(ATM):c.2218G>A (p.Ala740Thr) rs786201866
NM_000051.3(ATM):c.221G>A (p.Cys74Tyr) rs864622515
NM_000051.3(ATM):c.2222A>C (p.Tyr741Ser)
NM_000051.3(ATM):c.2222A>G (p.Tyr741Cys) rs878853492
NM_000051.3(ATM):c.2236T>C (p.Phe746Leu)
NM_000051.3(ATM):c.2244A>T (p.Lys748Asn)
NM_000051.3(ATM):c.2249A>C (p.Lys750Thr) rs1060501540
NM_000051.3(ATM):c.2251-14T>A rs751677125
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.2262A>G (p.Gln754=) rs778320952
NM_000051.3(ATM):c.2263T>C (p.Cys755Arg) rs1060501646
NM_000051.3(ATM):c.2269G>A (p.Gly757Arg) rs587779819
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.2281A>G (p.Thr761Ala) rs2235011
NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) rs2235011
NM_000051.3(ATM):c.2284C>G (p.Leu762Val) rs876659401
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.228A>C (p.Arg76Ser)
NM_000051.3(ATM):c.229A>G (p.Ile77Val) rs1064796032
NM_000051.3(ATM):c.2305G>A (p.Glu769Lys)
NM_000051.3(ATM):c.2314A>G (p.Arg772Gly) rs1565397219
NM_000051.3(ATM):c.2317A>C (p.Ile773Leu) rs876659084
NM_000051.3(ATM):c.2321G>T (p.Gly774Val) rs1555075727
NM_000051.3(ATM):c.232G>A (p.Ala78Thr) rs878853493
NM_000051.3(ATM):c.2333A>G (p.Asn778Ser) rs587779820
NM_000051.3(ATM):c.2336T>C (p.Met779Thr) rs587778066
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.2347T>G (p.Cys783Gly) rs1555075786
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.2356T>C (p.Cys786Arg) rs1565397441
NM_000051.3(ATM):c.2363G>A (p.Ser788Asn) rs1555075809
NM_000051.3(ATM):c.2366A>G (p.Asn789Ser)
NM_000051.3(ATM):c.2369G>C (p.Cys790Ser) rs764538548
NM_000051.3(ATM):c.2376+3A>G rs758083563
NM_000051.3(ATM):c.2376+3A>T rs758083563
NM_000051.3(ATM):c.2376+6A>C
NM_000051.3(ATM):c.2377-6T>A rs876660963
NM_000051.3(ATM):c.2377A>G (p.Lys793Glu) rs587781583
NM_000051.3(ATM):c.2382T>A (p.Ser794Arg) rs1555076601
NM_000051.3(ATM):c.2383C>T (p.Pro795Ser) rs1060501651
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.2395G>A (p.Ala799Thr)
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>C (p.Leu8Pro)
NM_000051.3(ATM):c.2401G>A (p.Gly801Ser) rs1565399865
NM_000051.3(ATM):c.2408T>C (p.Phe803Ser) rs751218526
NM_000051.3(ATM):c.2413C>G (p.Arg805Gly) rs780619951
NM_000051.3(ATM):c.2414G>A (p.Arg805Gln) rs587782255
NM_000051.3(ATM):c.2417T>G (p.Leu806Trp) rs1565399936
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.2425T>G (p.Ser809Ala) rs926246315
NM_000051.3(ATM):c.2428A>G (p.Lys810Glu) rs201909756
NM_000051.3(ATM):c.2434A>G (p.Met812Val) rs112357985
NM_000051.3(ATM):c.2436G>A (p.Met812Ile) rs876658688
NM_000051.3(ATM):c.2441A>T (p.Asp814Val) rs1565400035
NM_000051.3(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.3(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.3(ATM):c.2449G>A (p.Asp817Asn) rs587778067
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.2450A>G (p.Asp817Gly) rs587779821
NM_000051.3(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.3(ATM):c.2453T>C (p.Ile818Thr)
NM_000051.3(ATM):c.2459A>G (p.Lys820Arg) rs952566855
NM_000051.3(ATM):c.2463T>G (p.Ser821Arg) rs864622412
NM_000051.3(ATM):c.2466+4A>G rs563482577
NM_000051.3(ATM):c.2466+5G>C rs1064795969
NM_000051.3(ATM):c.2466+5G>T
NM_000051.3(ATM):c.2466A>G (p.Leu822=) rs747108452
NM_000051.3(ATM):c.2467-8C>G rs1425701157
NM_000051.3(ATM):c.2467G>A (p.Ala823Thr)
NM_000051.3(ATM):c.2467G>T (p.Ala823Ser) rs786202895
NM_000051.3(ATM):c.2474T>G (p.Phe825Cys) rs1060501648
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.2485C>G (p.Pro829Ala) rs1060501546
NM_000051.3(ATM):c.2486C>A (p.Pro829Gln) rs1565416001
NM_000051.3(ATM):c.2491G>A (p.Asp831Asn) rs1060501595
NM_000051.3(ATM):c.2491G>T (p.Asp831Tyr) rs1060501595
NM_000051.3(ATM):c.2492A>G (p.Asp831Gly) rs587781352
NM_000051.3(ATM):c.2494C>A (p.Arg832Ser) rs2229022
NM_000051.3(ATM):c.2494C>G (p.Arg832Gly)
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2495G>A (p.Arg832His) rs199875915
NM_000051.3(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.3(ATM):c.2497G>A (p.Gly833Arg)
NM_000051.3(ATM):c.2501A>T (p.Glu834Val) rs730881349
NM_000051.3(ATM):c.2506G>A (p.Glu836Lys) rs141054982
NM_000051.3(ATM):c.2512A>G (p.Met838Val) rs1555082132
NM_000051.3(ATM):c.2516A>C (p.Glu839Ala)
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.2531G>A (p.Gly844Glu) rs587781808
NM_000051.3(ATM):c.2531G>C (p.Gly844Ala) rs587781808
NM_000051.3(ATM):c.2534A>G (p.Asn845Ser) rs1060501591
NM_000051.3(ATM):c.2536C>G (p.Leu846Val) rs1555082186
NM_000051.3(ATM):c.2539A>G (p.Met847Val) rs587779823
NM_000051.3(ATM):c.2539A>T (p.Met847Leu) rs587779823
NM_000051.3(ATM):c.2540T>A (p.Met847Lys) rs1382712243
NM_000051.3(ATM):c.2541G>A (p.Met847Ile) rs864622131
NM_000051.3(ATM):c.2543A>G (p.Glu848Gly) rs1060501555
NM_000051.3(ATM):c.2544G>C (p.Glu848Asp) rs1060501601
NM_000051.3(ATM):c.2546T>C (p.Val849Ala) rs1555082209
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>A (p.Asp851Glu) rs1064793513
NM_000051.3(ATM):c.2553T>G (p.Asp851Glu) rs1064793513
NM_000051.3(ATM):c.2557T>C (p.Ser853Pro) rs876658913
NM_000051.3(ATM):c.2558C>T (p.Ser853Leu) rs1555082235
NM_000051.3(ATM):c.2560T>C (p.Ser854Pro) rs1060501632
NM_000051.3(ATM):c.2561C>A (p.Ser854Tyr) rs778123895
NM_000051.3(ATM):c.2563A>T (p.Met855Leu)
NM_000051.3(ATM):c.2564T>C (p.Met855Thr) rs587779824
NM_000051.3(ATM):c.256A>G (p.Thr86Ala) rs1565347018
NM_000051.3(ATM):c.2576A>G (p.Asn859Ser) rs1565416655
NM_000051.3(ATM):c.2578G>A (p.Asp860Asn) rs587779825
NM_000051.3(ATM):c.2579A>G (p.Asp860Gly) rs761251711
NM_000051.3(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.3(ATM):c.2581T>A (p.Tyr861Asn)
NM_000051.3(ATM):c.2585C>A (p.Pro862His) rs1565416725
NM_000051.3(ATM):c.2590A>C (p.Ser864Arg) rs764842086
NM_000051.3(ATM):c.2591G>A (p.Ser864Asn) rs1555082306
NM_000051.3(ATM):c.2600G>A (p.Ser867Asn)
NM_000051.3(ATM):c.2603A>G (p.Asp868Gly) rs750322758
NM_000051.3(ATM):c.2606C>A (p.Ala869Glu)
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>G (p.Asn870Lys)
NM_000051.3(ATM):c.2615C>T (p.Pro872Leu) rs786202977
NM_000051.3(ATM):c.2621A>G (p.Glu874Gly) rs1555082338
NM_000051.3(ATM):c.2627A>G (p.Gln876Arg) rs1555082348
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+3A>G rs876660552
NM_000051.3(ATM):c.2638+6T>C rs768305533
NM_000051.3(ATM):c.2639-3T>C rs1410247657
NM_000051.3(ATM):c.2639-4_2639-3del rs1555083075
NM_000051.3(ATM):c.2649T>G (p.Asn883Lys) rs1555083093
NM_000051.3(ATM):c.2650C>G (p.Pro884Ala)
NM_000051.3(ATM):c.2655A>T (p.Leu885Phe) rs730881351
NM_000051.3(ATM):c.2662G>C (p.Glu888Gln) rs879254083
NM_000051.3(ATM):c.2668C>G (p.Leu890Val)
NM_000051.3(ATM):c.2676G>T (p.Lys892Asn) rs1555083128
NM_000051.3(ATM):c.2678A>G (p.Gln893Arg) rs876659776
NM_000051.3(ATM):c.2681A>G (p.Asp894Gly) rs113482790
NM_000051.3(ATM):c.2681A>T (p.Asp894Val) rs113482790
NM_000051.3(ATM):c.2683C>A (p.Leu895Ile) rs1299030225
NM_000051.3(ATM):c.2686C>G (p.Leu896Val)
NM_000051.3(ATM):c.2689T>A (p.Phe897Ile) rs147122522
NM_000051.3(ATM):c.268A>G (p.Arg90Gly) rs868748140
NM_000051.3(ATM):c.2691C>G (p.Phe897Leu) rs878853496
NM_000051.3(ATM):c.2694A>C (p.Leu898Phe) rs774395596
NM_000051.3(ATM):c.2694A>T (p.Leu898Phe) rs774395596
NM_000051.3(ATM):c.2696A>G (p.Asp899Gly) rs1555083190
NM_000051.3(ATM):c.2698A>G (p.Met900Val) rs138468963
NM_000051.3(ATM):c.2699T>C (p.Met900Thr) rs863224558
NM_000051.3(ATM):c.2700G>A (p.Met900Ile)
NM_000051.3(ATM):c.2701C>T (p.Leu901Phe) rs863224559
NM_000051.3(ATM):c.2708T>G (p.Phe903Cys) rs1555083208
NM_000051.3(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.3(ATM):c.2717T>C (p.Leu906Ser) rs1064794688
NM_000051.3(ATM):c.2720G>A (p.Cys907Tyr)
NM_000051.3(ATM):c.2720G>T (p.Cys907Phe) rs775371838
NM_000051.3(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.3(ATM):c.2725A>T (p.Thr909Ser) rs786203175
NM_000051.3(ATM):c.2726C>T (p.Thr909Ile) rs1555083259
NM_000051.3(ATM):c.2728A>G (p.Thr910Ala) rs1265391373
NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.3(ATM):c.2738C>A (p.Thr913Asn) rs1266220962
NM_000051.3(ATM):c.2738C>T (p.Thr913Ile)
NM_000051.3(ATM):c.2740A>G (p.Asn914Asp)
NM_000051.3(ATM):c.2741A>G (p.Asn914Ser)
NM_000051.3(ATM):c.2743A>G (p.Thr915Ala) rs786203106
NM_000051.3(ATM):c.2748G>T (p.Val916=) rs1050470790
NM_000051.3(ATM):c.2752T>C (p.Phe918Leu) rs1060501549
NM_000051.3(ATM):c.2758G>A (p.Ala920Thr) rs1555083326
NM_000051.3(ATM):c.275A>C (p.Lys92Thr) rs200151849
NM_000051.3(ATM):c.2761G>A (p.Ala921Thr) rs1565419701
NM_000051.3(ATM):c.2764G>C (p.Asp922His) rs786201670
NM_000051.3(ATM):c.2765A>T (p.Asp922Val) rs1555083339
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.2786T>G (p.Met929Arg) rs745737218
NM_000051.3(ATM):c.2791A>G (p.Ile931Val) rs1308253602
NM_000051.3(ATM):c.2795A>G (p.Asp932Gly) rs1060501623
NM_000051.3(ATM):c.2797T>A (p.Ser933Thr) rs1060501698
NM_000051.3(ATM):c.2798C>G (p.Ser933Cys) rs56087610
NM_000051.3(ATM):c.2801G>C (p.Ser934Thr) rs1555083387
NM_000051.3(ATM):c.2803A>C (p.Thr935Pro) rs35813135
NM_000051.3(ATM):c.2803A>G (p.Thr935Ala) rs35813135
NM_000051.3(ATM):c.2804C>A (p.Thr935Lys)
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.2806C>G (p.Leu936Val)
NM_000051.3(ATM):c.2809G>C (p.Glu937Gln) rs1565420027
NM_000051.3(ATM):c.280A>G (p.Met94Val) rs864622758
NM_000051.3(ATM):c.2811A>C (p.Glu937Asp) rs1060501705
NM_000051.3(ATM):c.2815A>G (p.Thr939Ala) rs864622606
NM_000051.3(ATM):c.2818A>G (p.Lys940Glu) rs1064795896
NM_000051.3(ATM):c.2819A>C (p.Lys940Thr)
NM_000051.3(ATM):c.2819A>G (p.Lys940Arg) rs762078586
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.2831T>G (p.Leu944Arg) rs565886680
NM_000051.3(ATM):c.2834A>G (p.His945Arg)
NM_000051.3(ATM):c.2836A>C (p.Met946Leu) rs587781992
NM_000051.3(ATM):c.2836A>G (p.Met946Val) rs587781992
NM_000051.3(ATM):c.2838+5G>A rs1555083472
NM_000051.3(ATM):c.283C>A (p.Gln95Lys) rs587781545
NM_000051.3(ATM):c.2848C>G (p.Leu950Val)
NM_000051.3(ATM):c.2848C>T (p.Leu950Phe) rs763064034
NM_000051.3(ATM):c.2849T>A (p.Leu950His)
NM_000051.3(ATM):c.2857G>A (p.Glu953Lys)
NM_000051.3(ATM):c.2861T>A (p.Leu954His) rs1555084648
NM_000051.3(ATM):c.2864C>A (p.Pro955His)
NM_000051.3(ATM):c.2867G>A (p.Gly956Glu) rs752099312
NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.3(ATM):c.2876A>C (p.Tyr959Ser)
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.2887A>G (p.Met963Val) rs374353016
NM_000051.3(ATM):c.2894A>T (p.Asp965Val) rs876658628
NM_000051.3(ATM):c.2896G>A (p.Val966Ile) rs1060501598
NM_000051.3(ATM):c.2909T>C (p.Leu970Pro) rs587782521
NM_000051.3(ATM):c.290T>C (p.Ile97Thr) rs786203011
NM_000051.3(ATM):c.2913A>G (p.Lys971=) rs1057522291
NM_000051.3(ATM):c.2915C>T (p.Pro972Leu) rs750093937
NM_000051.3(ATM):c.2918T>C (p.Leu973Pro) rs1555084757
NM_000051.3(ATM):c.2921+2dup rs1565424654
NM_000051.3(ATM):c.2921+4A>C rs1565424660
NM_000051.3(ATM):c.2921C>A (p.Ser974Tyr)
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.2922-3C>T
NM_000051.3(ATM):c.2924A>G (p.Asn975Ser) rs730881354
NM_000051.3(ATM):c.2926G>T (p.Val976Leu)
NM_000051.3(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.3(ATM):c.292A>C (p.Ser98Arg) rs768318076
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.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.2945G>C (p.Arg982Pro)
NM_000051.3(ATM):c.2947G>A (p.Asp983Asn) rs1060501560
NM_000051.3(ATM):c.2951A>G (p.Gln984Arg)
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.2959T>G (p.Cys987Gly)
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.3(ATM):c.2975A>G (p.Asn992Ser) rs1060501589
NM_000051.3(ATM):c.2976C>G (p.Asn992Lys) rs1283172338
NM_000051.3(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.3(ATM):c.2978A>T (p.His993Leu) rs878853498
NM_000051.3(ATM):c.2983C>T (p.Leu995Phe) rs587779831
NM_000051.3(ATM):c.2987A>C (p.His996Pro)
NM_000051.3(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.3(ATM):c.2989G>A (p.Val997Ile) rs1487902875
NM_000051.3(ATM):c.2992G>A (p.Val998Met)
NM_000051.3(ATM):c.3004G>C (p.Gly1002Arg) rs1565425547
NM_000051.3(ATM):c.3011G>A (p.Ser1004Asn) rs1060501696
NM_000051.3(ATM):c.3012C>T (p.Ser1004=) rs751260996
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3016A>G (p.Met1006Val) rs139893395
NM_000051.3(ATM):c.3017T>C (p.Met1006Thr) rs1421074475
NM_000051.3(ATM):c.301G>A (p.Val101Ile) rs758483894
NM_000051.3(ATM):c.3025G>C (p.Glu1009Gln) rs1064794039
NM_000051.3(ATM):c.3035G>A (p.Arg1012Lys) rs1565425752
NM_000051.3(ATM):c.3040G>A (p.Ala1014Thr) rs587782163
NM_000051.3(ATM):c.3044A>G (p.Gln1015Arg) rs587778070
NM_000051.3(ATM):c.3047G>T (p.Gly1016Val) rs1565425832
NM_000051.3(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.3(ATM):c.3059C>A (p.Thr1020Lys)
NM_000051.3(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.3(ATM):c.305A>T (p.Lys102Ile) rs1555055293
NM_000051.3(ATM):c.3064A>G (p.Ile1022Val) rs786202470
NM_000051.3(ATM):c.3064A>T (p.Ile1022Phe)
NM_000051.3(ATM):c.3067G>A (p.Gly1023Arg) rs730882129
NM_000051.3(ATM):c.306A>G (p.Lys102=) rs1060501626
NM_000051.3(ATM):c.3070G>A (p.Ala1024Thr) rs1397754737
NM_000051.3(ATM):c.3070G>C (p.Ala1024Pro)
NM_000051.3(ATM):c.3071C>T (p.Ala1024Val) rs746133264
NM_000051.3(ATM):c.3074T>G (p.Phe1025Cys) rs1555085266
NM_000051.3(ATM):c.3075T>G (p.Phe1025Leu)
NM_000051.3(ATM):c.3077+5G>A rs777003996
NM_000051.3(ATM):c.3077+6T>A rs1565426002
NM_000051.3(ATM):c.3077+8C>A
NM_000051.3(ATM):c.3078-5T>G rs1565427457
NM_000051.3(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.3(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.3(ATM):c.3081T>A (p.His1027Gln) rs864622587
NM_000051.3(ATM):c.3082C>G (p.Leu1028Val) rs1263930458
NM_000051.3(ATM):c.3083T>G (p.Leu1028Arg) rs1555085776
NM_000051.3(ATM):c.3085A>T (p.Thr1029Ser) rs730881355
NM_000051.3(ATM):c.3088A>G (p.Lys1030Glu) rs863224561
NM_000051.3(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.3(ATM):c.3105A>G (p.Ile1035Met) rs1565427678
NM_000051.3(ATM):c.3106T>C (p.Phe1036Leu) rs747079458
NM_000051.3(ATM):c.3112G>A (p.Val1038Ile)
NM_000051.3(ATM):c.3112G>C (p.Val1038Leu) rs876659877
NM_000051.3(ATM):c.3120G>C (p.Met1040Ile) rs781519408
NM_000051.3(ATM):c.3126A>G (p.Leu1042=) rs770038542
NM_000051.3(ATM):c.3131A>G (p.Asn1044Ser) rs1565427876
NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.3(ATM):c.3143C>T (p.Thr1048Ile) rs1565427949
NM_000051.3(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.3(ATM):c.3147G>T (p.Leu1049Phe) rs1060501686
NM_000051.3(ATM):c.3149T>C (p.Leu1050Pro) rs1555085890
NM_000051.3(ATM):c.3152A>C (p.Glu1051Ala) rs876659217
NM_000051.3(ATM):c.3153+4A>T rs1060501620
NM_000051.3(ATM):c.3154-5C>T rs55719759
NM_000051.3(ATM):c.3155C>T (p.Ala1052Val) rs876660350
NM_000051.3(ATM):c.3161C>A (p.Pro1054His) rs1800057
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.317A>G (p.Lys106Arg) rs878853501
NM_000051.3(ATM):c.318A>C (p.Lys106Asn) rs1555055319
NM_000051.3(ATM):c.3190A>G (p.Met1064Val) rs79431304
NM_000051.3(ATM):c.3191T>C (p.Met1064Thr)
NM_000051.3(ATM):c.3194G>A (p.Gly1065Glu) rs762810180
NM_000051.3(ATM):c.3194G>T (p.Gly1065Val) rs762810180
NM_000051.3(ATM):c.3197A>C (p.Lys1066Thr) rs926564671
NM_000051.3(ATM):c.3198A>C (p.Lys1066Asn)
NM_000051.3(ATM):c.319T>C (p.Cys107Arg) rs864622508
NM_000051.3(ATM):c.3200A>G (p.Asp1067Gly)
NM_000051.3(ATM):c.3208G>A (p.Val1070Ile) 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.322G>A (p.Ala108Thr) rs730881370
NM_000051.3(ATM):c.3235_3236delinsTT (p.Ala1079Phe) rs1555086120
NM_000051.3(ATM):c.3236C>G (p.Ala1079Gly) rs778233602
NM_000051.3(ATM):c.3239A>T (p.Asp1080Val) rs757617016
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.3244C>T (p.His1082Tyr) rs1302626569
NM_000051.3(ATM):c.3245A>G (p.His1082Arg) rs1009749513
NM_000051.3(ATM):c.3249C>G (p.His1083Gln) rs1246816005
NM_000051.3(ATM):c.3253G>A (p.Val1085Ile) rs1555086177
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.3257G>T (p.Arg1086Leu) rs769857066
NM_000051.3(ATM):c.3265G>T (p.Ala1089Ser) rs730881358
NM_000051.3(ATM):c.3269C>T (p.Ala1090Val)
NM_000051.3(ATM):c.3275C>T (p.Ser1092Leu)
NM_000051.3(ATM):c.3277A>G (p.Ile1093Val) rs876659667
NM_000051.3(ATM):c.3280A>C (p.Asn1094His)
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+3A>G
NM_000051.3(ATM):c.3284+4A>G
NM_000051.3(ATM):c.3284+6G>C rs1228954245
NM_000051.3(ATM):c.3284+8dup rs886047611
NM_000051.3(ATM):c.3291C>G (p.Phe1097Leu) rs876658491
NM_000051.3(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.3(ATM):c.3295G>A (p.Asp1099Asn) rs372966951
NM_000051.3(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951
NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.3(ATM):c.3304G>A (p.Gly1102Arg) rs147557621
NM_000051.3(ATM):c.3307G>A (p.Asp1103Asn) rs1555090114
NM_000051.3(ATM):c.3307G>C (p.Asp1103His) rs1555090114
NM_000051.3(ATM):c.3308A>G (p.Asp1103Gly) rs1555090118
NM_000051.3(ATM):c.3308A>T (p.Asp1103Val)
NM_000051.3(ATM):c.330A>C (p.Arg110Ser) rs1555055350
NM_000051.3(ATM):c.3311C>A (p.Ser1104Tyr)
NM_000051.3(ATM):c.3311C>G (p.Ser1104Cys) rs1555090126
NM_000051.3(ATM):c.332-3T>C rs376116157
NM_000051.3(ATM):c.3328G>A (p.Ala1110Thr) rs147112946
NM_000051.3(ATM):c.332_334delGAG rs1060501621
NM_000051.3(ATM):c.3331C>G (p.Leu1111Val) rs587779832
NM_000051.3(ATM):c.3337T>A (p.Leu1113Met)
NM_000051.3(ATM):c.3338T>C (p.Leu1113Ser)
NM_000051.3(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.3(ATM):c.3341A>T (p.Lys1114Met)
NM_000051.3(ATM):c.3347A>C (p.Gln1116Pro) rs1555090213
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.3(ATM):c.3355G>T (p.Ala1119Ser) rs786201956
NM_000051.3(ATM):c.3362A>G (p.Glu1121Gly) rs876660607
NM_000051.3(ATM):c.3367G>C (p.Ala1123Pro) rs1060501581
NM_000051.3(ATM):c.3371A>G (p.Tyr1124Cys) rs876660498
NM_000051.3(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498
NM_000051.3(ATM):c.3376A>G (p.Lys1126Glu)
NM_000051.3(ATM):c.337C>T (p.Pro113Ser) rs1060501678
NM_000051.3(ATM):c.3380C>A (p.Ala1127Asp) rs1555090340
NM_000051.3(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.3(ATM):c.3388G>A (p.Gly1130Arg)
NM_000051.3(ATM):c.3389G>C (p.Gly1130Ala) rs1060501544
NM_000051.3(ATM):c.3398A>T (p.Glu1133Val) rs1565439583
NM_000051.3(ATM):c.3399A>C (p.Glu1133Asp) rs1555090364
NM_000051.3(ATM):c.3400A>C (p.Met1134Leu)
NM_000051.3(ATM):c.3400A>G (p.Met1134Val)
NM_000051.3(ATM):c.3402+3A>G rs786203688
NM_000051.3(ATM):c.3402+5T>C rs1057520229
NM_000051.3(ATM):c.3403-3A>C rs374866638
NM_000051.3(ATM):c.3407A>G (p.His1136Arg) rs768490475
NM_000051.3(ATM):c.3408T>G (p.His1136Gln) rs1565441369
NM_000051.3(ATM):c.3415G>A (p.Glu1139Lys) rs786203048
NM_000051.3(ATM):c.3427A>T (p.Thr1143Ser) rs1555091146
NM_000051.3(ATM):c.3432G>A (p.Leu1144=) rs1060501625
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>G (p.Leu115Val)
NM_000051.3(ATM):c.3446A>G (p.Asn1149Ser) rs1414846775
NM_000051.3(ATM):c.3449G>C (p.Arg1150Thr) rs555219189
NM_000051.3(ATM):c.3454T>G (p.Ser1152Ala) rs1176188506
NM_000051.3(ATM):c.3457G>C (p.Val1153Leu) rs863224562
NM_000051.3(ATM):c.3467C>T (p.Thr1156Met) rs759951393
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.3481G>A (p.Val1161Ile) rs1565441792
NM_000051.3(ATM):c.3488C>A (p.Ser1163Tyr) rs372766122
NM_000051.3(ATM):c.3493A>T (p.Ser1165Cys) rs1351059730
NM_000051.3(ATM):c.3495C>A (p.Ser1165Arg) rs878853505
NM_000051.3(ATM):c.3499A>G (p.Ile1167Val) rs1222634243
NM_000051.3(ATM):c.34T>C (p.Cys12Arg) rs1060501597
NM_000051.3(ATM):c.3502T>C (p.Cys1168Arg) rs749933079
NM_000051.3(ATM):c.3505G>A (p.Glu1169Lys) rs200765255
NM_000051.3(ATM):c.3509A>C (p.Lys1170Thr)
NM_000051.3(ATM):c.350G>T (p.Cys117Phe) rs1555059066
NM_000051.3(ATM):c.3513G>T (p.Gln1171His)
NM_000051.3(ATM):c.3514G>C (p.Ala1172Pro) rs779946941
NM_000051.3(ATM):c.3517T>G (p.Leu1173Val)
NM_000051.3(ATM):c.3519G>C (p.Leu1173Phe) rs1565442034
NM_000051.3(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.3(ATM):c.3532A>G (p.Lys1178Glu) rs1555091359
NM_000051.3(ATM):c.3538G>A (p.Val1180Met) rs1060501531
NM_000051.3(ATM):c.353A>G (p.Gln118Arg) rs1555059070
NM_000051.3(ATM):c.3543A>G (p.Lys1181=) rs1555091382
NM_000051.3(ATM):c.3544G>C (p.Glu1182Gln) rs377349886
NM_000051.3(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.3(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.3(ATM):c.3569T>C (p.Val1190Ala) rs1060501708
NM_000051.3(ATM):c.3576+4T>C
NM_000051.3(ATM):c.3577-13T>C rs587780856
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.3577G>A (p.Val1193Ile) rs779148780
NM_000051.3(ATM):c.3578T>C (p.Val1193Ala)
NM_000051.3(ATM):c.3584A>G (p.Glu1195Gly) rs1167713135
NM_000051.3(ATM):c.3589G>C (p.Val1197Leu) rs879254024
NM_000051.3(ATM):c.3590T>C (p.Val1197Ala) rs1555092259
NM_000051.3(ATM):c.3592T>C (p.Ser1198Pro) rs1555092260
NM_000051.3(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.3(ATM):c.3601T>A (p.Phe1201Ile) rs576884305
NM_000051.3(ATM):c.3602T>C (p.Phe1201Ser) rs1565444496
NM_000051.3(ATM):c.3606A>G (p.Gly1202=) rs1189826741
NM_000051.3(ATM):c.3608A>G (p.Tyr1203Cys) rs1453849799
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.3617T>C (p.Leu1206Ser) rs1555092317
NM_000051.3(ATM):c.361T>A (p.Leu121Ile) rs587782178
NM_000051.3(ATM):c.3620A>G (p.Glu1207Gly) rs1555092330
NM_000051.3(ATM):c.3628A>G (p.Met1210Val) rs138212452
NM_000051.3(ATM):c.3630G>A (p.Met1210Ile) rs587778073
NM_000051.3(ATM):c.3631G>A (p.Ala1211Thr)
NM_000051.3(ATM):c.3639T>G (p.His1213Gln) rs142766756
NM_000051.3(ATM):c.3658G>C (p.Glu1220Gln) rs1565444811
NM_000051.3(ATM):c.365A>C (p.Asn122Thr) rs1060501596
NM_000051.3(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.3(ATM):c.3676G>C (p.Asp1226His) rs370974808
NM_000051.3(ATM):c.3677A>G (p.Asp1226Gly) rs1555092445
NM_000051.3(ATM):c.3679A>G (p.Thr1227Ala) rs1047871047
NM_000051.3(ATM):c.3689A>G (p.Asn1230Ser) rs587782195
NM_000051.3(ATM):c.368A>G (p.Tyr123Cys) rs759673348
NM_000051.3(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389
NM_000051.3(ATM):c.3694T>C (p.Ser1232Pro)
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.3709A>T (p.Ile1237Phe) rs1555092528
NM_000051.3(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.3(ATM):c.371T>C (p.Ile124Thr) rs1555059132
NM_000051.3(ATM):c.3725C>A (p.Thr1242Lys) rs1266811647
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.373A>G (p.Met125Val) rs761137313
NM_000051.3(ATM):c.3742T>G (p.Tyr1248Asp)
NM_000051.3(ATM):c.3743A>C (p.Tyr1248Ser) rs766226370
NM_000051.3(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370
NM_000051.3(ATM):c.3746+4A>C rs1555092593
NM_000051.3(ATM):c.3746+5G>A rs876658419
NM_000051.3(ATM):c.3747-10C>G rs775274473
NM_000051.3(ATM):c.3749C>A (p.Ser1250Tyr) rs1555093273
NM_000051.3(ATM):c.3751T>C (p.Cys1251Arg) rs763730862
NM_000051.3(ATM):c.3768T>G (p.Ile1256Met)
NM_000051.3(ATM):c.3770C>T (p.Pro1257Leu)
NM_000051.3(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.3(ATM):c.3777G>A (p.Leu1259=) rs780192529
NM_000051.3(ATM):c.3783T>G (p.Ile1261Met)
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.3787A>G (p.Ser1263Gly) rs1276194109
NM_000051.3(ATM):c.3793T>C (p.Phe1265Leu) rs371526361
NM_000051.3(ATM):c.3794T>C (p.Phe1265Ser) rs1565447114
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.3800A>T (p.Glu1267Val) rs781357995
NM_000051.3(ATM):c.3802G>A (p.Val1268Met) rs863224564
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.3817A>G (p.Asn1273Asp) rs876660767
NM_000051.3(ATM):c.3821A>G (p.Gln1274Arg) rs1060501624
NM_000051.3(ATM):c.3821_3822delinsTA (p.Gln1274Leu)
NM_000051.3(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.3(ATM):c.3830A>G (p.Glu1277Gly) rs1555093463
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.3841A>T (p.Ser1281Cys) rs370785959
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.3851C>G (p.Thr1284Arg) rs1200767902
NM_000051.3(ATM):c.3857G>T (p.Cys1286Phe) rs876660770
NM_000051.3(ATM):c.3866A>G (p.Lys1289Arg) rs876660633
NM_000051.3(ATM):c.3872T>C (p.Leu1291Pro) rs1555093536
NM_000051.3(ATM):c.3872T>G (p.Leu1291Arg) rs1555093536
NM_000051.3(ATM):c.3874G>C (p.Val1292Leu) rs878853506
NM_000051.3(ATM):c.3878_3994dup (p.Asn1293_Gln1331dup)
NM_000051.3(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.3(ATM):c.3890A>G (p.Tyr1297Cys)
NM_000051.3(ATM):c.3897C>G (p.Ala1299=)
NM_000051.3(ATM):c.3898T>C (p.Tyr1300His)
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.3907A>G (p.Thr1303Ala) rs1060501662
NM_000051.3(ATM):c.390T>G (p.Asp130Glu)
NM_000051.3(ATM):c.3910A>G (p.Arg1304Gly) rs1565447611
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.3(ATM):c.3937G>C (p.Glu1313Gln) rs3092841
NM_000051.3(ATM):c.3938A>G (p.Glu1313Gly) rs1555093695
NM_000051.3(ATM):c.394T>C (p.Ser132Pro) rs786203851
NM_000051.3(ATM):c.3952G>T (p.Val1318Phe) rs587778074
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.3964C>T (p.Leu1322Phe) rs144535256
NM_000051.3(ATM):c.3965T>C (p.Leu1322Pro) rs786203306
NM_000051.3(ATM):c.3968A>G (p.Lys1323Arg) rs1295515377
NM_000051.3(ATM):c.3977A>G (p.Asn1326Ser) rs878853507
NM_000051.3(ATM):c.3978C>A (p.Asn1326Lys) rs778123057
NM_000051.3(ATM):c.397A>G (p.Asn133Asp) rs1565356855
NM_000051.3(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.3(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.3(ATM):c.3992A>G (p.Gln1331Arg) rs876658669
NM_000051.3(ATM):c.3993+6G>T rs878853508
NM_000051.3(ATM):c.3993G>A (p.Gln1331=) rs863224566
NM_000051.3(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.3(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.3(ATM):c.3994-159A>G rs864622543
NM_000051.3(ATM):c.3994-3C>A rs1060501681
NM_000051.3(ATM):c.3997G>A (p.Asp1333Asn)
NM_000051.3(ATM):c.3998A>T (p.Asp1333Val) rs746709782
NM_000051.3(ATM):c.4001A>G (p.His1334Arg) rs780865776
NM_000051.3(ATM):c.4003T>G (p.Leu1335Val) rs863224568
NM_000051.3(ATM):c.4006T>C (p.Phe1336Leu) rs1565452452
NM_000051.3(ATM):c.400G>A (p.Gly134Ser) rs2234998
NM_000051.3(ATM):c.4010T>A (p.Ile1337Asn) rs1060501660
NM_000051.3(ATM):c.4010T>C (p.Ile1337Thr) rs1060501660
NM_000051.3(ATM):c.4017T>G (p.Asn1339Lys) rs863224569
NM_000051.3(ATM):c.401G>A (p.Gly134Asp) rs771166271
NM_000051.3(ATM):c.4028T>C (p.Ile1343Thr) rs1309605588
NM_000051.3(ATM):c.4033G>A (p.Val1345Met)
NM_000051.3(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.3(ATM):c.4047G>T (p.Met1349Ile) rs1555095931
NM_000051.3(ATM):c.4049C>T (p.Thr1350Met) rs587781785
NM_000051.3(ATM):c.404C>G (p.Ala135Gly) rs1555059254
NM_000051.3(ATM):c.404C>T (p.Ala135Val)
NM_000051.3(ATM):c.4058A>G (p.Glu1353Gly) rs917721053
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4061C>A (p.Pro1354Gln) rs1565452743
NM_000051.3(ATM):c.4064C>T (p.Ala1355Val)
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.3(ATM):c.4072A>G (p.Ser1358Gly)
NM_000051.3(ATM):c.4075G>A (p.Ala1359Thr)
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.4083G>T (p.Gln1361His) rs863224570
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.409T>G (p.Tyr137Asp) rs786204177
NM_000051.3(ATM):c.4109+6T>C rs368606937
NM_000051.3(ATM):c.4109+6T>G rs368606937
NM_000051.3(ATM):c.4110-4T>G rs777186156
NM_000051.3(ATM):c.4110-9C>A rs730881367
NM_000051.3(ATM):c.4110-9C>G rs730881367
NM_000051.3(ATM):c.411C>T (p.Tyr137=) rs756160533
NM_000051.3(ATM):c.4126C>G (p.Pro1376Ala) rs863224571
NM_000051.3(ATM):c.4127C>G (p.Pro1376Arg) rs786202406
NM_000051.3(ATM):c.412G>A (p.Gly138Arg) rs150661813
NM_000051.3(ATM):c.4130A>G (p.Asn1377Ser) rs1565454896
NM_000051.3(ATM):c.4133C>T (p.Pro1378Leu) rs750771205
NM_000051.3(ATM):c.4141T>C (p.Phe1381Leu) rs1555096841
NM_000051.3(ATM):c.4144C>T (p.Pro1382Ser) rs55859590
NM_000051.3(ATM):c.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.3(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
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.4153G>T (p.Val1385Leu) rs1064794484
NM_000051.3(ATM):c.4158T>G (p.Ile1386Met) rs879254026
NM_000051.3(ATM):c.415G>T (p.Ala139Ser) rs1555059288
NM_000051.3(ATM):c.4162G>A (p.Ala1388Thr) rs1555096903
NM_000051.3(ATM):c.4163C>G (p.Ala1388Gly) rs1555096908
NM_000051.3(ATM):c.4165A>G (p.Thr1389Ala)
NM_000051.3(ATM):c.4172C>T (p.Ala1391Val)
NM_000051.3(ATM):c.4177A>C (p.Ile1393Leu) rs1565455097
NM_000051.3(ATM):c.4184A>G (p.Asn1395Ser) rs375396787
NM_000051.3(ATM):c.418G>C (p.Asp140His) rs55633650
NM_000051.3(ATM):c.4194A>T (p.Lys1398Asn) rs1565455145
NM_000051.3(ATM):c.4195A>T (p.Thr1399Ser) 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.41A>G (p.Gln14Arg)
NM_000051.3(ATM):c.4201T>A (p.Leu1401Ile) rs587779838
NM_000051.3(ATM):c.4210A>G (p.Ile1404Val) rs786201832
NM_000051.3(ATM):c.4219A>G (p.Ile1407Val) rs1382006540
NM_000051.3(ATM):c.421T>G (p.Cys141Gly) rs1565357020
NM_000051.3(ATM):c.4222C>T (p.Leu1408Phe) rs1565455224
NM_000051.3(ATM):c.4234C>T (p.Pro1412Ser)
NM_000051.3(ATM):c.4235C>T (p.Pro1412Leu) rs776581499
NM_000051.3(ATM):c.4236+2_4236+3insCT
NM_000051.3(ATM):c.4236+5G>A rs1441281768
NM_000051.3(ATM):c.4237-9_4237-7del rs1555097355
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.4244A>G (p.Tyr1415Cys) rs876660540
NM_000051.3(ATM):c.4247A>G (p.Gln1416Arg) rs758180727
NM_000051.3(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622
NM_000051.3(ATM):c.425G>A (p.Ser142Asn) rs755618506
NM_000051.3(ATM):c.4264A>G (p.Ile1422Val) rs562445932
NM_000051.3(ATM):c.4265T>C (p.Ile1422Thr) rs876659764
NM_000051.3(ATM):c.4267T>A (p.Cys1423Ser) rs587782442
NM_000051.3(ATM):c.4267T>C (p.Cys1423Arg) rs587782442
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.427A>G (p.Asn143Asp) rs587781688
NM_000051.3(ATM):c.428A>G (p.Asn143Ser) rs1565357066
NM_000051.3(ATM):c.4292A>G (p.Asn1431Ser) rs201356803
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.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.4307A>G (p.His1436Arg) rs940104361
NM_000051.3(ATM):c.430A>G (p.Ile144Val) rs1555059323
NM_000051.3(ATM):c.4310G>A (p.Arg1437Lys) rs1227046364
NM_000051.3(ATM):c.4311A>T (p.Arg1437Ser) rs1555097507
NM_000051.3(ATM):c.4316T>A (p.Leu1439His)
NM_000051.3(ATM):c.4316T>C (p.Leu1439Pro)
NM_000051.3(ATM):c.4321A>C (p.Ile1441Leu) rs774886013
NM_000051.3(ATM):c.4323A>G (p.Ile1441Met) rs587779839
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4327C>T (p.His1443Tyr) rs1555097538
NM_000051.3(ATM):c.4329C>A (p.His1443Gln) rs377065665
NM_000051.3(ATM):c.432A>G (p.Ile144Met)
NM_000051.3(ATM):c.4331_4332insTTT (p.Leu1444dup) rs1060501663
NM_000051.3(ATM):c.4333T>C (p.Phe1445Leu) rs1060501683
NM_000051.3(ATM):c.4336G>T (p.Val1446Phe) rs1060501658
NM_000051.3(ATM):c.4337T>A (p.Val1446Asp)
NM_000051.3(ATM):c.4349T>C (p.Leu1450Pro) rs750306932
NM_000051.3(ATM):c.434T>G (p.Leu145Arg) rs1555059346
NM_000051.3(ATM):c.4355A>T (p.Asp1452Val) rs1565456579
NM_000051.3(ATM):c.4358T>G (p.Ile1453Arg) rs587782126
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.4366G>A (p.Gly1456Ser)
NM_000051.3(ATM):c.4367G>A (p.Gly1456Asp)
NM_000051.3(ATM):c.4371A>C (p.Leu1457Phe)
NM_000051.3(ATM):c.4375G>A (p.Gly1459Arg) rs145667735
NM_000051.3(ATM):c.4378G>T (p.Ala1460Ser) rs1060501675
NM_000051.3(ATM):c.4379C>T (p.Ala1460Val) rs376165779
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4396C>G (p.Arg1466Gly) rs730881369
NM_000051.3(ATM):c.4397G>A (p.Arg1466Gln) rs749770110
NM_000051.3(ATM):c.4400A>G (p.Asp1467Gly) rs730881392
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.4417A>G (p.Ile1473Val)
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.4431C>A (p.Asn1477Lys) rs571989748
NM_000051.3(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.3(ATM):c.4437-7A>C
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4442C>T (p.Ser1481Phe) rs863224572
NM_000051.3(ATM):c.4444T>C (p.Cys1482Arg)
NM_000051.3(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352
NM_000051.3(ATM):c.4447A>G (p.Ile1483Val) rs1281685502
NM_000051.3(ATM):c.4454A>C (p.Asp1485Ala)
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.445A>G (p.Ile149Val) rs1565357194
NM_000051.3(ATM):c.4465C>T (p.Arg1489Cys) rs754181173
NM_000051.3(ATM):c.4466G>A (p.Arg1489His) rs201594549
NM_000051.3(ATM):c.4468A>G (p.Ser1490Gly) rs876658711
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>G (p.Leu1493Val)
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.4484G>T (p.Cys1495Phe) rs878853510
NM_000051.3(ATM):c.4499A>G (p.Gln1500Arg) rs786203789
NM_000051.3(ATM):c.44T>A (p.Leu15Gln) rs1555053927
NM_000051.3(ATM):c.44T>G (p.Leu15Arg) rs1555053927
NM_000051.3(ATM):c.4501G>A (p.Val1501Ile)
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.4508A>G (p.Gln1503Arg) rs1555099858
NM_000051.3(ATM):c.4511C>T (p.Thr1504Ile) rs1060501638
NM_000051.3(ATM):c.4516G>A (p.Val1506Met) rs760542469
NM_000051.3(ATM):c.4516G>T (p.Val1506Leu)
NM_000051.3(ATM):c.4517T>A (p.Val1506Glu) rs1555099878
NM_000051.3(ATM):c.451T>C (p.Ser151Pro) rs1565357241
NM_000051.3(ATM):c.4520C>T (p.Thr1507Ile) rs1064793811
NM_000051.3(ATM):c.452C>T (p.Ser151Phe) rs1565357249
NM_000051.3(ATM):c.4532A>T (p.Asp1511Val)
NM_000051.3(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.3(ATM):c.4546C>T (p.His1516Tyr) rs1389372050
NM_000051.3(ATM):c.4547A>G (p.His1516Arg) rs1565461434
NM_000051.3(ATM):c.4549C>T (p.Leu1517Phe) rs754058482
NM_000051.3(ATM):c.4553A>C (p.His1518Pro) rs762132832
NM_000051.3(ATM):c.4555G>C (p.Val1519Leu) rs969120822
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.4564G>A (p.Gly1522Ser) rs1064795495
NM_000051.3(ATM):c.4565G>A (p.Gly1522Asp) rs1555099954
NM_000051.3(ATM):c.4568C>T (p.Thr1523Ile) rs1555099959
NM_000051.3(ATM):c.4570C>T (p.Leu1524Phe) rs780603110
NM_000051.3(ATM):c.4571T>A (p.Leu1524His) rs1555099971
NM_000051.3(ATM):c.4574T>C (p.Ile1525Thr) rs755274980
NM_000051.3(ATM):c.4576C>A (p.Pro1526Thr) rs748898098
NM_000051.3(ATM):c.4576C>T (p.Pro1526Ser) rs748898098
NM_000051.3(ATM):c.4577C>A (p.Pro1526His) rs770590652
NM_000051.3(ATM):c.4577_4578delinsTT (p.Pro1526Leu)
NM_000051.3(ATM):c.457A>G (p.Arg153Gly) rs1555059438
NM_000051.3(ATM):c.4586A>G (p.Tyr1529Cys) rs1365089723
NM_000051.3(ATM):c.4600G>T (p.Val1534Phe) rs745351684
NM_000051.3(ATM):c.4606A>G (p.Lys1536Glu) rs587779841
NM_000051.3(ATM):c.4611+4A>G
NM_000051.3(ATM):c.4611+6T>C rs1555100047
NM_000051.3(ATM):c.4612-4T>G rs569983068
NM_000051.3(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.3(ATM):c.4618G>T (p.Asp1540Tyr) rs778622948
NM_000051.3(ATM):c.4629A>G (p.Lys1543=) rs745565564
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.4636G>A (p.Val1546Met) rs1305696123
NM_000051.3(ATM):c.4639A>G (p.Ile1547Val) rs537377433
NM_000051.3(ATM):c.4643A>T (p.Asp1548Val) rs1448017467
NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) rs587778075
NM_000051.3(ATM):c.4662C>A (p.Asn1554Lys) rs776761757
NM_000051.3(ATM):c.4664T>A (p.Leu1555His) rs1060501524
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.4673C>T (p.Thr1558Met) rs587781712
NM_000051.3(ATM):c.4678A>C (p.Lys1560Gln)
NM_000051.3(ATM):c.4678A>G (p.Lys1560Glu) rs767981230
NM_000051.3(ATM):c.4691C>T (p.Pro1564Leu)
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.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4723C>A (p.Arg1575Ser)
NM_000051.3(ATM):c.4724G>A (p.Arg1575His) rs550552791
NM_000051.3(ATM):c.4738A>G (p.Lys1580Glu)
NM_000051.3(ATM):c.4741A>G (p.Ile1581Val) rs1565463271
NM_000051.3(ATM):c.4751G>A (p.Ser1584Asn)
NM_000051.3(ATM):c.4756G>A (p.Gly1586Arg) rs1565463314
NM_000051.3(ATM):c.4759C>G (p.Pro1587Ala) rs786202473
NM_000051.3(ATM):c.475A>G (p.Ile159Val) rs1565357315
NM_000051.3(ATM):c.4768C>T (p.Leu1590Phe) rs35962982
NM_000051.3(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.3(ATM):c.4776+4A>G
NM_000051.3(ATM):c.4776G>C (p.Glu1592Asp) rs786202973
NM_000051.3(ATM):c.4777-13T>A rs371535082
NM_000051.3(ATM):c.4777-3T>C rs1468242174
NM_000051.3(ATM):c.4777-6T>C rs1565465980
NM_000051.3(ATM):c.4780A>G (p.Ile1594Val) rs1555101615
NM_000051.3(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.3(ATM):c.478T>C (p.Ser160Pro)
NM_000051.3(ATM):c.4792C>A (p.Leu1598Ile) rs375190373
NM_000051.3(ATM):c.4799T>A (p.Val1600Glu)
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.4807T>C (p.Tyr1603His) rs994121421
NM_000051.3(ATM):c.4813G>A (p.Ala1605Thr) rs1555101706
NM_000051.3(ATM):c.4814C>T (p.Ala1605Val) rs786203520
NM_000051.3(ATM):c.4816C>G (p.Leu1606Val) rs746103632
NM_000051.3(ATM):c.4816C>T (p.Leu1606Phe)
NM_000051.3(ATM):c.4819C>A (p.Pro1607Thr) rs1178015475
NM_000051.3(ATM):c.4820C>G (p.Pro1607Arg) rs864622462
NM_000051.3(ATM):c.4820C>T (p.Pro1607Leu)
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.483G>C (p.Gln161His) rs864622742
NM_000051.3(ATM):c.4845G>T (p.Lys1615Asn) rs888498126
NM_000051.3(ATM):c.4847A>T (p.Asp1616Val)
NM_000051.3(ATM):c.4852C>G (p.Arg1618Gly)
NM_000051.3(ATM):c.4853G>A (p.Arg1618Gln) rs765759912
NM_000051.3(ATM):c.4856G>A (p.Arg1619Lys) rs730881393
NM_000051.3(ATM):c.4862T>A (p.Leu1621Gln) rs1555101864
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.4870C>A (p.His1624Asn)
NM_000051.3(ATM):c.4871A>G (p.His1624Arg) rs56354559
NM_000051.3(ATM):c.4873A>G (p.Lys1625Glu) rs1060501693
NM_000051.3(ATM):c.4874A>G (p.Lys1625Arg)
NM_000051.3(ATM):c.4879C>A (p.Gln1627Lys) rs886039592
NM_000051.3(ATM):c.4881G>T (p.Gln1627His) rs1374689246
NM_000051.3(ATM):c.4882A>T (p.Met1628Leu)
NM_000051.3(ATM):c.4889A>G (p.Asp1630Gly) rs1565466579
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.4894A>G (p.Met1632Val) rs1060501709
NM_000051.3(ATM):c.4896G>A (p.Met1632Ile) rs933030670
NM_000051.3(ATM):c.48A>G (p.Glu16=) rs774768437
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.490T>C (p.Trp164Arg) rs1060501699
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.4910-5T>C rs1309478967
NM_000051.3(ATM):c.4910-6T>G rs878853513
NM_000051.3(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.3(ATM):c.4916C>G (p.Pro1639Arg) rs752459491
NM_000051.3(ATM):c.4916C>T (p.Pro1639Leu) rs752459491
NM_000051.3(ATM):c.4921G>C (p.Asp1641His) rs587782896
NM_000051.3(ATM):c.492G>T (p.Trp164Cys) rs1555059530
NM_000051.3(ATM):c.4930A>G (p.Met1644Val)
NM_000051.3(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.3(ATM):c.4933G>T (p.Val1645Leu) rs757381170
NM_000051.3(ATM):c.493T>G (p.Leu165Val)
NM_000051.3(ATM):c.4943T>C (p.Val1648Ala)
NM_000051.3(ATM):c.4949A>C (p.Asn1650Thr) rs55870064
NM_000051.3(ATM):c.4952T>C (p.Leu1651Ser) rs1555103237
NM_000051.3(ATM):c.4952T>G (p.Leu1651Trp)
NM_000051.3(ATM):c.496+3A>G rs876658311
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.4963T>C (p.Ser1655Pro) rs1376280581
NM_000051.3(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215
NM_000051.3(ATM):c.4966A>G (p.Lys1656Glu) rs1565470010
NM_000051.3(ATM):c.4969A>G (p.Met1657Val) rs1060501656
NM_000051.3(ATM):c.497-5T>C
NM_000051.3(ATM):c.4975A>G (p.Ile1659Val) rs778632065
NM_000051.3(ATM):c.4977A>T (p.Ile1659=) rs199888434
NM_000051.3(ATM):c.497A>G (p.Glu166Gly)
NM_000051.3(ATM):c.497A>T (p.Glu166Val) rs863224573
NM_000051.3(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.3(ATM):c.4981C>A (p.His1661Asn)
NM_000051.3(ATM):c.4985C>T (p.Thr1662Ile)
NM_000051.3(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.3(ATM):c.49C>A (p.His17Asn) rs876658161
NM_000051.3(ATM):c.4A>G (p.Ser2Gly)
NM_000051.3(ATM):c.5002C>A (p.Leu1668Ile)
NM_000051.3(ATM):c.5004A>G (p.Leu1668=)
NM_000051.3(ATM):c.5005+7_5005+8del rs587780626
NM_000051.3(ATM):c.5006-4G>A
NM_000051.3(ATM):c.5006-8A>G rs1057520447
NM_000051.3(ATM):c.5009C>T (p.Ala1670Val) rs375131360
NM_000051.3(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.3(ATM):c.5018G>A (p.Ser1673Asn) rs878853515
NM_000051.3(ATM):c.501_503del (p.Leu167del) rs1555066242
NM_000051.3(ATM):c.5021G>A (p.Cys1674Tyr) rs1555104518
NM_000051.3(ATM):c.5027G>A (p.Gly1676Glu) rs1565473530
NM_000051.3(ATM):c.5028_5036del (p.Glu1677_Gly1679del) rs1555104529
NM_000051.3(ATM):c.502T>C (p.Phe168Leu) rs1565369177
NM_000051.3(ATM):c.5033T>A (p.Val1678Glu) rs878853516
NM_000051.3(ATM):c.5036G>A (p.Gly1679Asp) rs1064794124
NM_000051.3(ATM):c.5036G>T (p.Gly1679Val) rs1064794124
NM_000051.3(ATM):c.5038C>G (p.Pro1680Ala) rs1565473572
NM_000051.3(ATM):c.5039C>G (p.Pro1680Arg) rs587782153
NM_000051.3(ATM):c.5039C>T (p.Pro1680Leu) rs587782153
NM_000051.3(ATM):c.5041A>G (p.Ile1681Val) rs1298268285
NM_000051.3(ATM):c.5042T>C (p.Ile1681Thr) rs1307715383
NM_000051.3(ATM):c.5045A>G (p.Asp1682Gly) rs980731959
NM_000051.3(ATM):c.5049C>A (p.Phe1683Leu) rs1183084231
NM_000051.3(ATM):c.5051C>G (p.Ser1684Cys) rs1565473651
NM_000051.3(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.3(ATM):c.5056A>G (p.Ile1686Val) rs145453814
NM_000051.3(ATM):c.5057T>C (p.Ile1686Thr) rs878853517
NM_000051.3(ATM):c.5060C>G (p.Ala1687Gly)
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.5066A>G (p.Gln1689Arg) rs1555104616
NM_000051.3(ATM):c.5068C>G (p.His1690Asp)
NM_000051.3(ATM):c.5069A>G (p.His1690Arg) rs863224574
NM_000051.3(ATM):c.506C>G (p.Ser169Cys) rs587779843
NM_000051.3(ATM):c.5076A>C (p.Lys1692Asn) rs767841041
NM_000051.3(ATM):c.5077G>C (p.Asp1693His)
NM_000051.3(ATM):c.5078A>T (p.Asp1693Val)
NM_000051.3(ATM):c.5080G>A (p.Ala1694Thr) rs756197350
NM_000051.3(ATM):c.5081C>T (p.Ala1694Val) rs587782551
NM_000051.3(ATM):c.5087A>G (p.Tyr1696Cys) rs1555104673
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.5093A>T (p.Lys1698Met)
NM_000051.3(ATM):c.5108T>C (p.Phe1703Ser) rs772376652
NM_000051.3(ATM):c.5119G>A (p.Glu1707Lys) rs1565474056
NM_000051.3(ATM):c.5125C>A (p.Gln1709Lys) rs1341457041
NM_000051.3(ATM):c.5126A>G (p.Gln1709Arg) rs587780627
NM_000051.3(ATM):c.5127G>C (p.Gln1709His)
NM_000051.3(ATM):c.512A>G (p.Tyr171Cys) rs1060501616
NM_000051.3(ATM):c.5132C>G (p.Thr1711Ser) rs1291016764
NM_000051.3(ATM):c.5138T>C (p.Ile1713Thr) rs1199544303
NM_000051.3(ATM):c.5141T>G (p.Met1714Arg)
NM_000051.3(ATM):c.5144T>C (p.Leu1715Pro) rs747800057
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.5160C>A (p.Asn1720Lys) rs1565474287
NM_000051.3(ATM):c.5168T>C (p.Val1723Ala) rs915337829
NM_000051.3(ATM):c.5173G>T (p.Asp1725Tyr) rs1555104799
NM_000051.3(ATM):c.5177+3G>A rs774216164
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5177+6T>A rs1555104814
NM_000051.3(ATM):c.5178-10T>A rs1565476613
NM_000051.3(ATM):c.5178-10T>G
NM_000051.3(ATM):c.5178-3del rs1555105575
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.5189G>A (p.Arg1730Gln) rs373789346
NM_000051.3(ATM):c.5189G>T (p.Arg1730Leu) 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.5191T>C (p.Ser1731Pro) rs1064793038
NM_000051.3(ATM):c.5194G>A (p.Ala1732Thr) rs730881372
NM_000051.3(ATM):c.520C>T (p.Leu174Phe) rs1565369274
NM_000051.3(ATM):c.5218A>C (p.Ile1740Leu)
NM_000051.3(ATM):c.5218A>G (p.Ile1740Val) rs1358200819
NM_000051.3(ATM):c.5222T>C (p.Leu1741Ser) rs750896881
NM_000051.3(ATM):c.5227A>G (p.Thr1743Ala) rs758924620
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
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.5246T>C (p.Phe1749Ser)
NM_000051.3(ATM):c.5250G>C (p.Trp1750Cys) rs587779845
NM_000051.3(ATM):c.5250G>T (p.Trp1750Cys) rs587779845
NM_000051.3(ATM):c.5251G>C (p.Glu1751Gln) rs755397489
NM_000051.3(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.3(ATM):c.5262G>T (p.Lys1754Asn) rs748900588
NM_000051.3(ATM):c.5263A>G (p.Met1755Val) rs876659150
NM_000051.3(ATM):c.5264T>C (p.Met1755Thr) rs1555105739
NM_000051.3(ATM):c.5265G>T (p.Met1755Ile) rs1060501556
NM_000051.3(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.3(ATM):c.526C>A (p.Leu176Met)
NM_000051.3(ATM):c.526C>G (p.Leu176Val) rs375798802
NM_000051.3(ATM):c.5274T>A (p.Asp1758Glu) rs913665369
NM_000051.3(ATM):c.5276C>T (p.Pro1759Leu) rs1565477222
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.5294A>G (p.Gln1765Arg) rs35556390
NM_000051.3(ATM):c.5300T>G (p.Phe1767Cys) rs864622125
NM_000051.3(ATM):c.5319+3C>A rs371640963
NM_000051.3(ATM):c.5319+3C>T rs371640963
NM_000051.3(ATM):c.5319+6_5319+7del rs777478613
NM_000051.3(ATM):c.5319_5319+8delinsTGTTTG rs1064792939
NM_000051.3(ATM):c.5320-10T>C rs864622731
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.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.3(ATM):c.5332C>T (p.Pro1778Ser) rs1279041730
NM_000051.3(ATM):c.5335A>G (p.Arg1779Gly)
NM_000051.3(ATM):c.5337A>T (p.Arg1779Ser) rs369351803
NM_000051.3(ATM):c.533C>T (p.Pro178Leu)
NM_000051.3(ATM):c.5345A>G (p.Lys1782Arg) rs878853520
NM_000051.3(ATM):c.5346A>C (p.Lys1782Asn) rs1555106345
NM_000051.3(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.3(ATM):c.5362G>A (p.Gly1788Ser) rs730881373
NM_000051.3(ATM):c.5369A>G (p.Asp1790Gly) rs746945284
NM_000051.3(ATM):c.5369A>T (p.Asp1790Val) rs746945284
NM_000051.3(ATM):c.5375T>C (p.Ile1792Thr) rs776309355
NM_000051.3(ATM):c.5375T>G (p.Ile1792Arg)
NM_000051.3(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.3(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.3(ATM):c.5402A>G (p.Asn1801Ser) rs1555106445
NM_000051.3(ATM):c.5405A>G (p.His1802Arg) rs878853521
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>T (p.Thr1810Ser) rs876659748
NM_000051.3(ATM):c.5429C>T (p.Thr1810Ile) rs1565479223
NM_000051.3(ATM):c.5432G>C (p.Cys1811Ser) rs149569091
NM_000051.3(ATM):c.5435C>T (p.Ala1812Val) rs199885813
NM_000051.3(ATM):c.5443G>A (p.Asp1815Asn) rs933604666
NM_000051.3(ATM):c.5445C>G (p.Asp1815Glu) rs1555106518
NM_000051.3(ATM):c.5453_5454delinsAA (p.Gly1818Glu) rs1555106531
NM_000051.3(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.3(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.3(ATM):c.5462G>T (p.Cys1821Phe) rs1565479431
NM_000051.3(ATM):c.5464G>A (p.Glu1822Lys)
NM_000051.3(ATM):c.5470C>T (p.Leu1824Phe) rs764784077
NM_000051.3(ATM):c.5471T>C (p.Leu1824Pro) rs1565479465
NM_000051.3(ATM):c.5474A>C (p.Gln1825Pro) rs587782655
NM_000051.3(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.3(ATM):c.5476T>G (p.Leu1826Val) rs1555106563
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.5490G>A (p.Met1830Ile) rs779720793
NM_000051.3(ATM):c.5497-3T>C
NM_000051.3(ATM):c.5497-4C>G
NM_000051.3(ATM):c.5507A>T (p.Asp1836Val) rs1555107256
NM_000051.3(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.3(ATM):c.5521G>A (p.Val1841Ile) rs1565481593
NM_000051.3(ATM):c.5524C>A (p.Leu1842Ile)
NM_000051.3(ATM):c.5524C>T (p.Leu1842Phe) rs956546711
NM_000051.3(ATM):c.5525T>G (p.Leu1842Arg) rs1060501619
NM_000051.3(ATM):c.5527C>G (p.Pro1843Ala) rs1060501607
NM_000051.3(ATM):c.5528C>G (p.Pro1843Arg) rs764522350
NM_000051.3(ATM):c.554T>C (p.Val185Ala) rs730881335
NM_000051.3(ATM):c.5551C>G (p.Leu1851Val) rs200842502
NM_000051.3(ATM):c.5554C>A (p.Gln1852Lys) rs754562056
NM_000051.3(ATM):c.5561C>G (p.Thr1854Arg) rs138710254
NM_000051.3(ATM):c.5564A>G (p.Asn1855Ser) rs1565481878
NM_000051.3(ATM):c.5565T>G (p.Asn1855Lys) rs1565481888
NM_000051.3(ATM):c.5566G>C (p.Glu1856Gln)
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.5584C>T (p.Leu1862Phe)
NM_000051.3(ATM):c.558A>C (p.Leu186Phe) rs991667156
NM_000051.3(ATM):c.5590A>G (p.Thr1864Ala) rs1240167425
NM_000051.3(ATM):c.5591C>G (p.Thr1864Arg) rs779156037
NM_000051.3(ATM):c.559G>A (p.Val187Met) rs1060501614
NM_000051.3(ATM):c.55A>G (p.Arg19Gly) rs1565344118
NM_000051.3(ATM):c.5600A>G (p.Gln1867Arg) rs1555107457
NM_000051.3(ATM):c.5603G>A (p.Gly1868Glu) rs1565482084
NM_000051.3(ATM):c.5605T>C (p.Phe1869Leu) rs975721205
NM_000051.3(ATM):c.5605T>G (p.Phe1869Val)
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.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.3(ATM):c.5624G>C (p.Arg1875Pro) rs762304746
NM_000051.3(ATM):c.5626C>T (p.His1876Tyr) rs1060501567
NM_000051.3(ATM):c.5628C>A (p.His1876Gln) rs1237700879
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.5631C>G (p.Phe1877Leu) rs751327903
NM_000051.3(ATM):c.5632_5635del (p.Ser1878fs) rs758852420
NM_000051.3(ATM):c.5633C>T (p.Ser1878Leu) rs758908522
NM_000051.3(ATM):c.5637A>G (p.Gln1879=) rs587781993
NM_000051.3(ATM):c.5639C>T (p.Thr1880Met) rs587780628
NM_000051.3(ATM):c.563C>A (p.Ala188Asp) rs1555066393
NM_000051.3(ATM):c.5645G>A (p.Arg1882Gln) rs587782236
NM_000051.3(ATM):c.5650A>G (p.Thr1884Ala) rs1555107562
NM_000051.3(ATM):c.5653A>T (p.Thr1885Ser) rs587779850
NM_000051.3(ATM):c.5660C>T (p.Ala1887Val) rs1297909613
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.5673A>G (p.Ser1891=) rs1555107607
NM_000051.3(ATM):c.5674+6C>G rs780204400
NM_000051.3(ATM):c.5674G>A (p.Glu1892Lys) rs730881375
NM_000051.3(ATM):c.5675-10T>G rs377599533
NM_000051.3(ATM):c.5675-3C>G rs876658545
NM_000051.3(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.3(ATM):c.5683C>G (p.His1895Asp) rs766901049
NM_000051.3(ATM):c.5683C>T (p.His1895Tyr) rs766901049
NM_000051.3(ATM):c.5686T>G (p.Phe1896Val) rs1565485959
NM_000051.3(ATM):c.568A>G (p.Ile190Val) rs1565369501
NM_000051.3(ATM):c.5690T>G (p.Phe1897Cys) rs587782516
NM_000051.3(ATM):c.5695T>C (p.Cys1899Arg) rs373213507
NM_000051.3(ATM):c.5699G>C (p.Cys1900Ser)
NM_000051.3(ATM):c.5703G>C (p.Leu1901Phe)
NM_000051.3(ATM):c.5704G>T (p.Asp1902Tyr) rs1565486050
NM_000051.3(ATM):c.5705A>G (p.Asp1902Gly) rs1565486057
NM_000051.3(ATM):c.5707A>G (p.Lys1903Glu) rs765027485
NM_000051.3(ATM):c.5725A>G (p.Met1909Val) rs750561317
NM_000051.3(ATM):c.5726T>A (p.Met1909Lys)
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.5738T>G (p.Val1913Gly) rs1060501688
NM_000051.3(ATM):c.5747T>C (p.Met1916Thr) rs1060501557
NM_000051.3(ATM):c.574C>A (p.His192Asn) rs587780629
NM_000051.3(ATM):c.574C>G (p.His192Asp) rs587780629
NM_000051.3(ATM):c.5750G>A (p.Arg1917Lys) rs377289524
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.5756A>C (p.Gln1919Pro) rs1565486302
NM_000051.3(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.3(ATM):c.5762+6G>A rs776532221
NM_000051.3(ATM):c.5762+9A>G rs1565486371
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.595T>C (p.Cys199Arg)
NM_000051.3(ATM):c.599C>G (p.Ser200Cys) rs1060501562
NM_000051.3(ATM):c.5G>A (p.Ser2Asn) rs730881360
NM_000051.3(ATM):c.605C>T (p.Thr202Ile) rs1555066438
NM_000051.3(ATM):c.607G>A (p.Asp203Asn)
NM_000051.3(ATM):c.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.3(ATM):c.630G>A (p.Leu210=) rs1565369739
NM_000051.3(ATM):c.631G>A (p.Asp211Asn) rs1555066481
NM_000051.3(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.3(ATM):c.640T>C (p.Ser214Pro) rs747053710
NM_000051.3(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.3(ATM):c.649A>G (p.Ile217Val) rs547045780
NM_000051.3(ATM):c.649A>T (p.Ile217Phe) rs547045780
NM_000051.3(ATM):c.653A>C (p.Gln218Pro) rs1198686265
NM_000051.3(ATM):c.655T>C (p.Cys219Arg) rs771685059
NM_000051.3(ATM):c.659C>T (p.Ala220Val) rs145355104
NM_000051.3(ATM):c.660G>A (p.Ala220=) rs763669136
NM_000051.3(ATM):c.662+6C>G rs1565369978
NM_000051.3(ATM):c.662G>A (p.Arg221Lys)
NM_000051.3(ATM):c.663-8C>A rs1060501661
NM_000051.3(ATM):c.663A>T (p.Arg221Ser) rs1555066913
NM_000051.3(ATM):c.668A>G (p.Glu223Gly) rs776227830
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.672G>T (p.Lys224Asn) rs769731317
NM_000051.3(ATM):c.680C>T (p.Ser227Leu) rs762998620
NM_000051.3(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.3(ATM):c.691C>G (p.His231Asp) rs1460757633
NM_000051.3(ATM):c.692A>G (p.His231Arg) rs587782229
NM_000051.3(ATM):c.695T>G (p.Ile232Ser) rs786203502
NM_000051.3(ATM):c.699A>T (p.Leu233Phe)
NM_000051.3(ATM):c.707T>G (p.Leu236Arg)
NM_000051.3(ATM):c.709A>G (p.Thr237Ala) rs376529329
NM_000051.3(ATM):c.712A>G (p.Ile238Val) rs754275014
NM_000051.3(ATM):c.716T>C (p.Phe239Ser) rs143198946
NM_000051.3(ATM):c.718C>T (p.Leu240Phe) rs1210038351
NM_000051.3(ATM):c.719T>G (p.Leu240Arg) rs876658753
NM_000051.3(ATM):c.71A>T (p.Lys24Met) rs1060501710
NM_000051.3(ATM):c.72+4G>A
NM_000051.3(ATM):c.722A>G (p.Lys241Arg)
NM_000051.3(ATM):c.724A>G (p.Thr242Ala) rs1555067068
NM_000051.3(ATM):c.728T>C (p.Leu243Ser) rs786202096
NM_000051.3(ATM):c.73-3C>G rs1555054039
NM_000051.3(ATM):c.73-3C>T rs1555054039
NM_000051.3(ATM):c.733G>A (p.Val245Ile) rs1555067081
NM_000051.3(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.3(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.3(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.3(ATM):c.745A>G (p.Ile249Val) rs1060501636
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.750A>G (p.Arg250=) rs1555067112
NM_000051.3(ATM):c.751G>A (p.Val251Met) rs1057519145
NM_000051.3(ATM):c.754T>A (p.Cys252Ser) rs863224580
NM_000051.3(ATM):c.763G>C (p.Gly255Arg)
NM_000051.3(ATM):c.767A>G (p.Asp256Gly) rs907941927
NM_000051.3(ATM):c.769G>C (p.Glu257Gln) rs1565371596
NM_000051.3(ATM):c.76G>C (p.Glu26Gln) rs730881361
NM_000051.3(ATM):c.778C>A (p.Pro260Thr)
NM_000051.3(ATM):c.778C>G (p.Pro260Ala) rs863224581
NM_000051.3(ATM):c.779C>A (p.Pro260His) rs961262202
NM_000051.3(ATM):c.779C>T (p.Pro260Leu) rs961262202
NM_000051.3(ATM):c.77A>G (p.Glu26Gly) rs1555054052
NM_000051.3(ATM):c.781A>T (p.Thr261Ser) rs786203410
NM_000051.3(ATM):c.785T>C (p.Leu262Ser) rs864622163
NM_000051.3(ATM):c.785T>G (p.Leu262Trp) rs864622163
NM_000051.3(ATM):c.78A>T (p.Glu26Asp) rs786202953
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.79G>C (p.Val27Leu)
NM_000051.3(ATM):c.806A>G (p.His269Arg) rs1565371740
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.811C>G (p.Leu271Val) rs730881339
NM_000051.3(ATM):c.815A>T (p.Asn272Ile) rs1555067189
NM_000051.3(ATM):c.821C>T (p.Ser274Phe)
NM_000051.3(ATM):c.826A>G (p.Lys276Glu) rs587782902
NM_000051.3(ATM):c.832G>T (p.Val278Phe) rs761005590
NM_000051.3(ATM):c.835A>G (p.Ile279Val) rs1555067210
NM_000051.3(ATM):c.838A>G (p.Ile280Val) rs764048041
NM_000051.3(ATM):c.841G>A (p.Glu281Lys)
NM_000051.3(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.3(ATM):c.847T>G (p.Phe283Val)
NM_000051.3(ATM):c.849T>A (p.Phe283Leu) rs1060501617
NM_000051.3(ATM):c.854T>G (p.Leu285Arg) rs864622605
NM_000051.3(ATM):c.858A>G (p.Gln286=) rs145301478
NM_000051.3(ATM):c.865A>C (p.Ile289Leu) rs1555067259
NM_000051.3(ATM):c.866T>C (p.Ile289Thr)
NM_000051.3(ATM):c.868C>A (p.His290Asn)
NM_000051.3(ATM):c.86A>C (p.Lys29Thr) rs147009251
NM_000051.3(ATM):c.871C>G (p.His291Asp) rs1555067280
NM_000051.3(ATM):c.872A>G (p.His291Arg) rs1555067285
NM_000051.3(ATM):c.875C>G (p.Pro292Arg)
NM_000051.3(ATM):c.879A>G (p.Lys293=) rs864622069
NM_000051.3(ATM):c.884C>A (p.Ala295Asp) rs1044092081
NM_000051.3(ATM):c.89T>G (p.Phe30Cys) rs876658520
NM_000051.3(ATM):c.8T>C (p.Leu3Pro) rs1555053861
NM_000051.3(ATM):c.901+4T>G
NM_000051.3(ATM):c.901+6A>C rs1555067357
NM_000051.3(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.3(ATM):c.902G>A (p.Gly301Asp) rs202208861
NM_000051.3(ATM):c.916A>G (p.Thr306Ala) rs1555068304
NM_000051.3(ATM):c.921A>T (p.Lys307Asn) rs1555068322
NM_000051.3(ATM):c.925A>G (p.Arg309Gly) rs876659841
NM_000051.3(ATM):c.927A>T (p.Arg309Ser)
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.93G>C (p.Lys31Asn) rs863224583
NM_000051.3(ATM):c.941A>G (p.Asn314Ser) rs886047610
NM_000051.3(ATM):c.946T>A (p.Tyr316Asn) rs142317485
NM_000051.3(ATM):c.946T>C (p.Tyr316His) rs142317485
NM_000051.3(ATM):c.947A>G (p.Tyr316Cys)
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000051.3(ATM):c.957A>G (p.Leu319=) rs1060501542
NM_000051.3(ATM):c.958G>A (p.Val320Met) rs1060501655
NM_000051.3(ATM):c.95G>A (p.Arg32His) rs368161489
NM_000051.3(ATM):c.95G>T (p.Arg32Leu) rs368161489
NM_000051.3(ATM):c.961A>G (p.Asn321Asp)
NM_000051.3(ATM):c.962A>G (p.Asn321Ser) rs1555068398
NM_000051.3(ATM):c.969A>G (p.Ile323Met) rs1565375220
NM_000051.3(ATM):c.974A>T (p.His325Leu) rs1565375244
NM_000051.3(ATM):c.976A>G (p.Ile326Val) rs1555068422
NM_000051.3(ATM):c.980G>A (p.Gly327Glu)
NM_000051.3(ATM):c.984_986del (p.Ser328del) rs876659593
NM_000051.3(ATM):c.985A>G (p.Arg329Gly)
NM_000051.3(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000051.3(ATM):c.989G>A (p.Gly330Glu) rs762179829
NM_000051.3(ATM):c.995A>G (p.Tyr332Cys)
NM_000051.3(ATM):c.995A>T (p.Tyr332Phe) rs1060501664
NM_000051.3(ATM):c.[1236-2A>T];[497-1G>A]
NM_001351834.2(ATM):c.1095_1101delinsA (p.Ile366_Ser367del) rs878853481
NM_001351834.2(ATM):c.1547_1550delinsA (p.Leu516_Val517delinsTyr) rs1555071174
NM_001351834.2(ATM):c.1921_1923GAA[1] (p.Glu642del) rs876659575
NM_001351834.2(ATM):c.1945_1947GAA[1] (p.Glu650del) rs1555073166
NM_001351834.2(ATM):c.2590_2592AGT[1] (p.Ser865del) rs863224823
NM_001351834.2(ATM):c.3695_3697CTT[1] (p.Ser1233del) rs1555092499
NM_001351834.2(ATM):c.4255_4257CTT[1] (p.Leu1420del) rs876659842
NM_001351834.2(ATM):c.437_441delinsACAAT (p.Leu146_Lys147delinsHisAsn) rs1555059356
NM_001351834.2(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_001351834.2(ATM):c.4439_4441CTT[1] (p.Ser1481del) rs786202338
NM_001351834.2(ATM):c.4489_4491TTA[1] (p.Leu1498del) rs1555099818

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