ClinVar Miner

List of variants in gene ATM reported by Color

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1486
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HGVS dbSNP
NM_000051.3(ATM):c.-14T>C
NM_000051.3(ATM):c.-15C>T rs1204830852
NM_000051.3(ATM):c.-18G>A rs374303671
NM_000051.3(ATM):c.-19T>C rs890075956
NM_000051.3(ATM):c.-2C>T rs755213267
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.1012A>C (p.Asn338His) rs751800302
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.1027_1030delGAAA rs587780612
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.1047G>A (p.Met349Ile) rs768480943
NM_000051.3(ATM):c.1049C>T (p.Ala350Val) rs375049090
NM_000051.3(ATM):c.1051G>A (p.Asp351Asn) rs876659092
NM_000051.3(ATM):c.1056C>T (p.Ile352=) rs1555068605
NM_000051.3(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.3(ATM):c.1065+17A>G rs373230921
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-15A>G rs771020891
NM_000051.3(ATM):c.1066-20G>T rs1565378678
NM_000051.3(ATM):c.1066-2A>T rs1555069514
NM_000051.3(ATM):c.1066-3C>T rs1565378708
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1068T>A (p.Val356=) rs1462038794
NM_000051.3(ATM):c.1068T>C (p.Val356=) rs1462038794
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.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.1086A>T (p.Arg362Ser) rs142591268
NM_000051.3(ATM):c.1095_1101delinsA (p.Ile366_Ser367del) rs878853481
NM_000051.3(ATM):c.1104A>G (p.Gln368=) rs560691658
NM_000051.3(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.3(ATM):c.1111A>G (p.Thr371Ala) rs1565378985
NM_000051.3(ATM):c.1112C>T (p.Thr371Ile) rs879254289
NM_000051.3(ATM):c.1118C>G (p.Thr373Arg) rs876659275
NM_000051.3(ATM):c.1121A>C (p.Gln374Pro) rs1555069640
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.1158del (p.Lys387fs) rs587782085
NM_000051.3(ATM):c.115A>G (p.Thr39Ala) rs779297339
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
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.1195C>T (p.His399Tyr) rs1565379474
NM_000051.3(ATM):c.1196A>G (p.His399Arg) rs1565379486
NM_000051.3(ATM):c.1197C>T (p.His399=) rs786201131
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.1215del (p.Asn405fs) rs1555069815
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.1225C>A (p.Leu409Ile) rs786203815
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.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1235+11dup rs773187419
NM_000051.3(ATM):c.1235+14A>G rs776931625
NM_000051.3(ATM):c.1235+20T>G rs762656752
NM_000051.3(ATM):c.1235+5A>T rs1064793679
NM_000051.3(ATM):c.1235+8G>T rs1555069907
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1236-3_1236-2insC rs730881281
NM_000051.3(ATM):c.1236-3delT rs34325032
NM_000051.3(ATM):c.1236-3dup rs34325032
NM_000051.3(ATM):c.1236-9_1236-8insG rs863224290
NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.3(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.3(ATM):c.1251C>T (p.Thr417=) rs1555070643
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.125A>G (p.His42Arg) rs201773026
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.1273G>A (p.Ala425Thr) rs769214234
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.1296G>C (p.Leu432=) rs876658894
NM_000051.3(ATM):c.1299T>G (p.Ser433=) rs1565382118
NM_000051.3(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.3(ATM):c.1303T>C (p.Leu435=) rs748469311
NM_000051.3(ATM):c.1313_1389delinsGACTCCATTAC (p.Ile438_Ala463delinsArgLeuHisTyr) rs1565382200
NM_000051.3(ATM):c.1314dup (p.Leu439fs) rs1555070739
NM_000051.3(ATM):c.1317A>G (p.Leu439=) rs1232968268
NM_000051.3(ATM):c.1319C>T (p.Ser440Phe) rs773895161
NM_000051.3(ATM):c.131A>G (p.Asp44Gly) rs150143957
NM_000051.3(ATM):c.1321C>T (p.Gln441Ter) rs1565382267
NM_000051.3(ATM):c.1329A>C (p.Leu443=) rs201460863
NM_000051.3(ATM):c.1329A>T (p.Leu443=) rs201460863
NM_000051.3(ATM):c.132T>C (p.Asp44=) rs1555054149
NM_000051.3(ATM):c.1332C>A (p.Pro444=) rs763361384
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>T (p.Arg45Trp) rs3218684
NM_000051.3(ATM):c.1340G>A (p.Arg447Gln) rs760676955
NM_000051.3(ATM):c.1346G>A (p.Gly449Glu) rs1163918420
NM_000051.3(ATM):c.134G>A (p.Arg45Gln) rs762382111
NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) rs201719927
NM_000051.3(ATM):c.1352G>A (p.Arg451His) rs554805703
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1363G>A (p.Val455Met) rs368879876
NM_000051.3(ATM):c.1368A>G (p.Leu456=) rs750579940
NM_000051.3(ATM):c.1369C>A (p.Arg457=) rs749036865
NM_000051.3(ATM):c.1369C>G (p.Arg457Gly) rs749036865
NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) rs749036865
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.1387G>A (p.Ala463Thr) rs1565382695
NM_000051.3(ATM):c.138T>C (p.His46=) rs770834907
NM_000051.3(ATM):c.1392G>A (p.Leu464=) rs760191806
NM_000051.3(ATM):c.1396C>G (p.Gln466Glu) rs876660485
NM_000051.3(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_000051.3(ATM):c.1417G>A (p.Glu473Lys) rs1565382834
NM_000051.3(ATM):c.1427A>G (p.Gln476Arg) rs1397399631
NM_000051.3(ATM):c.1437T>G (p.Asp479Glu) rs1565382937
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.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.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.146C>T (p.Ser49Phe) rs1800054
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.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.149A>G (p.Lys50Arg) rs1479478300
NM_000051.3(ATM):c.1511A>G (p.Asn504Ser) rs56365018
NM_000051.3(ATM):c.1516G>T (p.Gly506Cys) rs587779816
NM_000051.3(ATM):c.1523T>C (p.Leu508Pro) rs1565383502
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1544G>C (p.Ser515Thr) rs1555071168
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.1568T>A (p.Phe523Tyr) rs768038315
NM_000051.3(ATM):c.1575G>A (p.Lys525=) rs587780613
NM_000051.3(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.3(ATM):c.1599A>G (p.Arg533=) rs1555071269
NM_000051.3(ATM):c.159A>G (p.Lys53=) rs1060504281
NM_000051.3(ATM):c.1602T>C (p.Pro534=) rs1555071275
NM_000051.3(ATM):c.1605A>G (p.Ser535=) rs1060504290
NM_000051.3(ATM):c.1607+10G>C rs1555071298
NM_000051.3(ATM):c.1607+10G>T rs1555071298
NM_000051.3(ATM):c.1607+18delT rs1259647838
NM_000051.3(ATM):c.1607+20T>C rs1555071308
NM_000051.3(ATM):c.1607+5G>A rs766535949
NM_000051.3(ATM):c.1608-19G>T rs773158102
NM_000051.3(ATM):c.1608-3T>C rs774196176
NM_000051.3(ATM):c.1608-7G>A rs1555071656
NM_000051.3(ATM):c.1608-8T>C rs201110707
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.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1641C>A (p.Thr547=) rs864622141
NM_000051.3(ATM):c.1648A>G (p.Ile550Val) rs202144949
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.1670T>G (p.Met557Arg) rs786202770
NM_000051.3(ATM):c.1675A>G (p.Ile559Val) rs1060501545
NM_000051.3(ATM):c.1680G>A (p.Glu560=) rs1555071815
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.1695A>G (p.Glu565=) rs780932013
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.1707C>T (p.Ser569=) rs1381837075
NM_000051.3(ATM):c.170G>A (p.Trp57Ter) rs587779818
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.1729A>G (p.Met577Val) rs1555071919
NM_000051.3(ATM):c.172del (p.Asp58fs) rs1555054243
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.1738C>T (p.Leu580Phe) rs1555071952
NM_000051.3(ATM):c.1740C>T (p.Leu580=) rs1060504269
NM_000051.3(ATM):c.1741T>G (p.Leu581Val) rs876659822
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1748A>C (p.Tyr583Ser) rs587780614
NM_000051.3(ATM):c.1748A>G (p.Tyr583Cys) rs587780614
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.1773T>C (p.Asn591=) rs61734356
NM_000051.3(ATM):c.1783_1802+91del rs1555072063
NM_000051.3(ATM):c.1789C>G (p.Pro597Ala) rs1555072070
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.1794T>C (p.Ile598=) rs786201830
NM_000051.3(ATM):c.1795C>T (p.Leu599Phe) rs1312313805
NM_000051.3(ATM):c.1798C>G (p.His600Asp) rs1555072089
NM_000051.3(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.3(ATM):c.1802+13C>T rs1555072105
NM_000051.3(ATM):c.1802+16T>C rs995327985
NM_000051.3(ATM):c.1802+16delT rs1064794466
NM_000051.3(ATM):c.1802+20A>G rs1009750697
NM_000051.3(ATM):c.1802+20A>T rs1009750697
NM_000051.3(ATM):c.1803-19delT rs1420491228
NM_000051.3(ATM):c.1803-8C>A rs778937998
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.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.185+16T>C rs1343329254
NM_000051.3(ATM):c.185+6C>G rs1555054299
NM_000051.3(ATM):c.185+8A>G rs753891198
NM_000051.3(ATM):c.1855A>C (p.Asn619His) rs140882609
NM_000051.3(ATM):c.1858del (p.Cys620fs) rs1565387848
NM_000051.3(ATM):c.186-11delT rs1555055031
NM_000051.3(ATM):c.186-17A>G rs4987907
NM_000051.3(ATM):c.186-18C>T rs1410616583
NM_000051.3(ATM):c.186-19G>A rs748791429
NM_000051.3(ATM):c.186-7C>T rs55674039
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.1874A>T (p.Asn625Ile) rs766757573
NM_000051.3(ATM):c.1880T>G (p.Phe627Cys) rs546087885
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.1890G>T (p.Val630=) rs1555072586
NM_000051.3(ATM):c.1897T>C (p.Cys633Arg) rs1555072606
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1898+3A>G rs200169643
NM_000051.3(ATM):c.1898+9T>C rs1057520836
NM_000051.3(ATM):c.1899-10T>G rs763685190
NM_000051.3(ATM):c.1899-16T>A rs1352009139
NM_000051.3(ATM):c.1899-1G>A rs1555073065
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.1902A>G (p.Glu634=) rs1060501633
NM_000051.3(ATM):c.1903C>T (p.His635Tyr) rs761491947
NM_000051.3(ATM):c.1910A>G (p.Gln637Arg) rs1565389611
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.1914_1929dup (p.Ser644delinsArgTer) rs864622415
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.1927C>G (p.Leu643Val) rs1565389730
NM_000051.3(ATM):c.1929T>A (p.Leu643=) rs876659911
NM_000051.3(ATM):c.192dup (p.Gln65fs) rs1565346604
NM_000051.3(ATM):c.1943T>C (p.Val648Ala) rs141175037
NM_000051.3(ATM):c.1944A>G (p.Val648=) rs1555073161
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.1953A>G (p.Leu651=) rs730881283
NM_000051.3(ATM):c.1954T>C (p.Phe652Leu) rs1565389902
NM_000051.3(ATM):c.1960C>A (p.Gln654Lys) rs528165789
NM_000051.3(ATM):c.1966A>G (p.Thr656Ala) rs1064793032
NM_000051.3(ATM):c.1971T>G (p.Phe657Leu) rs1555073215
NM_000051.3(ATM):c.1976A>G (p.Lys659Arg) rs1565390043
NM_000051.3(ATM):c.1978A>G (p.Met660Val) rs1555073240
NM_000051.3(ATM):c.1979_1981delinsAGA (p.Met660_Asp661delinsLysAsn) rs1565390104
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.198A>G (p.Lys66=) rs540920248
NM_000051.3(ATM):c.1994T>C (p.Ile665Thr) rs1064793789
NM_000051.3(ATM):c.1998G>A (p.Val666=) rs748380150
NM_000051.3(ATM):c.1998_1999GA[5] (p.Cys669fs) rs1555073282
NM_000051.3(ATM):c.2013A>T (p.Ile671=) rs1371341017
NM_000051.3(ATM):c.2019G>A (p.Lys673=) rs786203021
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.3(ATM):c.2036G>C (p.Gly679Ala) rs544123518
NM_000051.3(ATM):c.2040C>T (p.Phe680=) rs587780855
NM_000051.3(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.3(ATM):c.2047C>T (p.His683Tyr) rs1565390482
NM_000051.3(ATM):c.2051A>G (p.Gln684Arg) rs772393149
NM_000051.3(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.3(ATM):c.2062G>A (p.Glu688Lys) rs769338089
NM_000051.3(ATM):c.2062G>C (p.Glu688Gln) rs769338089
NM_000051.3(ATM):c.2064A>G (p.Glu688=) rs772739433
NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) rs765965513
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.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.2113del (p.Tyr705fs) rs863224822
NM_000051.3(ATM):c.2115C>T (p.Tyr705=) rs876659149
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2124+13A>T rs199648955
NM_000051.3(ATM):c.2124+13del rs35211268
NM_000051.3(ATM):c.2124+14A>G rs772719886
NM_000051.3(ATM):c.2124+19dupA rs35211268
NM_000051.3(ATM):c.2125-13delG rs1555074807
NM_000051.3(ATM):c.2125-17T>C rs1373576656
NM_000051.3(ATM):c.2125-3A>C rs1565394396
NM_000051.3(ATM):c.2125-4T>C rs1064795623
NM_000051.3(ATM):c.2125-7_2125-3delCTTTA rs1060504272
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.2138A>C (p.Glu713Ala) rs1565394523
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>C (p.Val716Ala) rs864622294
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.2151G>C (p.Arg717=) rs1331738032
NM_000051.3(ATM):c.2158C>A (p.Arg720Ser) rs565622131
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.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.2175C>T (p.Val725=) rs140110298
NM_000051.3(ATM):c.217G>A (p.Glu73Lys) rs1555055119
NM_000051.3(ATM):c.2181C>T (p.Gly727=) rs876658836
NM_000051.3(ATM):c.2187C>T (p.Tyr729=) rs373430058
NM_000051.3(ATM):c.2189G>A (p.Cys730Tyr) rs587781595
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2195dup (p.Met732fs) rs1555074971
NM_000051.3(ATM):c.2197G>A (p.Gly733Ser) rs1565394966
NM_000051.3(ATM):c.2207C>T (p.Ala736Val) rs587780617
NM_000051.3(ATM):c.2214G>A (p.Glu738=) rs1565395061
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.2218G>C (p.Ala740Pro) 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.2229A>G (p.Ser743=) rs758453118
NM_000051.3(ATM):c.222T>C (p.Cys74=) rs1555055127
NM_000051.3(ATM):c.2238C>G (p.Phe746Leu) rs786203595
NM_000051.3(ATM):c.2238C>T (p.Phe746=) rs786203595
NM_000051.3(ATM):c.2250+13A>G rs1290519111
NM_000051.3(ATM):c.2250+20T>C rs377570109
NM_000051.3(ATM):c.2250+4G>A rs1565395217
NM_000051.3(ATM):c.2250+8A>T rs1555075054
NM_000051.3(ATM):c.2250+9A>G rs755569951
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2251-15T>C rs1565396892
NM_000051.3(ATM):c.2251-18T>G rs1555075595
NM_000051.3(ATM):c.2251-19T>C rs370713089
NM_000051.3(ATM):c.2251-3T>C rs752951518
NM_000051.3(ATM):c.2251-6C>T rs1555075617
NM_000051.3(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.3(ATM):c.2255dup (p.Met753fs) rs1565396965
NM_000051.3(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.3(ATM):c.2260C>A (p.Gln754Lys) rs3205809
NM_000051.3(ATM):c.2262A>G (p.Gln754=) rs778320952
NM_000051.3(ATM):c.2264G>A (p.Cys755Tyr) rs876660916
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.227G>A (p.Arg76Lys) rs1565346853
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.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2295T>C (p.Asn765=) rs1444950103
NM_000051.3(ATM):c.2308G>T (p.Glu770Ter) rs1555075721
NM_000051.3(ATM):c.2321G>A (p.Gly774Asp) rs1555075727
NM_000051.3(ATM):c.2321G>T (p.Gly774Val) rs1555075727
NM_000051.3(ATM):c.2322T>C (p.Gly774=) rs769575297
NM_000051.3(ATM):c.2329A>C (p.Arg777=) rs1565397263
NM_000051.3(ATM):c.2332A>G (p.Asn778Asp) rs1555075751
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.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.234A>G (p.Ala78=) rs1555055145
NM_000051.3(ATM):c.2353C>T (p.Arg785Cys) rs587778065
NM_000051.3(ATM):c.2354G>A (p.Arg785His) rs587782128
NM_000051.3(ATM):c.2355T>C (p.Arg785=) rs1555075801
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2376+16delT rs779169817
NM_000051.3(ATM):c.2376+17_2376+19delCTT rs757318914
NM_000051.3(ATM):c.2376+18T>C rs1555075849
NM_000051.3(ATM):c.2376+1G>A rs730881347
NM_000051.3(ATM):c.2376+20G>C rs140364468
NM_000051.3(ATM):c.2376+20_2376+22delGTT rs1171212629
NM_000051.3(ATM):c.2377-15_2377-12delTTGT rs730881298
NM_000051.3(ATM):c.2377-18T>C rs761207086
NM_000051.3(ATM):c.2377-19T>G rs775771700
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2377-6T>A rs876660963
NM_000051.3(ATM):c.2377A>C (p.Lys793Gln) rs587781583
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
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.2399C>T (p.Ser800Phe) rs1196453563
NM_000051.3(ATM):c.2408T>C (p.Phe803Ser) rs751218526
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>A (p.Leu806=) rs587781296
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.2426C>T (p.Ser809Leu) rs730881348
NM_000051.3(ATM):c.2428A>G (p.Lys810Glu) rs201909756
NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.3(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.3(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.244G>A (p.Val82Ile) rs1412024666
NM_000051.3(ATM):c.2465T>A (p.Leu822Ter) rs1442299125
NM_000051.3(ATM):c.2466+15_2466+27delTGTTTTGCTATCA rs1555076777
NM_000051.3(ATM):c.2466+5G>C rs1064795969
NM_000051.3(ATM):c.2466+7A>G rs55812024
NM_000051.3(ATM):c.2466A>C (p.Leu822Phe) rs747108452
NM_000051.3(ATM):c.2466A>G (p.Leu822=) rs747108452
NM_000051.3(ATM):c.2467-12T>C rs1469467036
NM_000051.3(ATM):c.2467-2A>C rs1555082050
NM_000051.3(ATM):c.2467-2A>G rs1555082050
NM_000051.3(ATM):c.2467-4G>A rs1555082048
NM_000051.3(ATM):c.2467-7C>T rs768850329
NM_000051.3(ATM):c.2467-8C>G rs1425701157
NM_000051.3(ATM):c.2467-8C>T rs1425701157
NM_000051.3(ATM):c.246A>G (p.Val82=) rs757944864
NM_000051.3(ATM):c.2471C>T (p.Ser824Phe) rs1555082060
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.2492A>G (p.Asp831Gly) rs587781352
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.2498G>C (p.Gly833Ala) rs552010421
NM_000051.3(ATM):c.2499A>C (p.Gly833=) rs1060504263
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.2505A>G (p.Val835=) rs1057523506
NM_000051.3(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
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.2521del (p.Asp841fs) rs1175457710
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2526T>C (p.Thr842=) rs1565416272
NM_000051.3(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.3(ATM):c.2546T>C (p.Val849Ala) rs1555082209
NM_000051.3(ATM):c.2552A>G (p.Asp851Gly) rs748203812
NM_000051.3(ATM):c.2561C>A (p.Ser854Tyr) rs778123895
NM_000051.3(ATM):c.2567A>G (p.Asn856Ser) rs1555082253
NM_000051.3(ATM):c.2571A>G (p.Leu857=) rs1191404395
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2577C>T (p.Asn859=) rs730881286
NM_000051.3(ATM):c.2578G>A (p.Asp860Asn) rs587779825
NM_000051.3(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.3(ATM):c.2581T>C (p.Tyr861His) rs1565416692
NM_000051.3(ATM):c.2589T>C (p.Asp863=) rs1057520227
NM_000051.3(ATM):c.2590A>G (p.Ser864Gly) rs764842086
NM_000051.3(ATM):c.2591G>A (p.Ser864Asn) rs1555082306
NM_000051.3(ATM):c.2598T>G (p.Val866=) rs730881350
NM_000051.3(ATM):c.2603A>G (p.Asp868Gly) rs750322758
NM_000051.3(ATM):c.2606C>A (p.Ala869Glu)
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.2606_2607del (p.Ala869fs) rs1057516944
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.2627A>G (p.Gln876Arg) rs1555082348
NM_000051.3(ATM):c.2630G>C (p.Ser877Thr) rs370269552
NM_000051.3(ATM):c.2636T>C (p.Ile879Thr) rs746265230
NM_000051.3(ATM):c.2638+11A>G rs1057521911
NM_000051.3(ATM):c.2638+16C>A rs1386019726
NM_000051.3(ATM):c.2638+16C>G rs1386019726
NM_000051.3(ATM):c.2638+19C>A rs1439350674
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2638+6T>C rs768305533
NM_000051.3(ATM):c.2638+7A>G rs1555082379
NM_000051.3(ATM):c.2638+8C>T rs776116433
NM_000051.3(ATM):c.2638+9A>C rs761592414
NM_000051.3(ATM):c.2639-17G>T rs2234994
NM_000051.3(ATM):c.2639-18A>G rs1555083057
NM_000051.3(ATM):c.2639-22A>G rs1555083055
NM_000051.3(ATM):c.2639-22_2639-20delAAT rs1064795554
NM_000051.3(ATM):c.2639-384A>T rs1131691154
NM_000051.3(ATM):c.2639-385_2639-380delTATAAG rs1397425268
NM_000051.3(ATM):c.2639-9T>G rs1457466709
NM_000051.3(ATM):c.263C>A (p.Ala88Asp) rs1565347056
NM_000051.3(ATM):c.2670G>A (p.Leu890=) rs1555083123
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.2678A>T (p.Gln893Leu) rs876659776
NM_000051.3(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.3(ATM):c.267C>T (p.Ser89=) rs1555055198
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.2689T>A (p.Phe897Ile) rs147122522
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.2716T>A (p.Leu906Met) rs368047468
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.2728A>G (p.Thr910Ala) rs1265391373
NM_000051.3(ATM):c.2734C>T (p.Gln912Ter) rs764409952
NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.3(ATM):c.2741A>G (p.Asn914Ser)
NM_000051.3(ATM):c.2744C>G (p.Thr915Ser) rs876660912
NM_000051.3(ATM):c.2751C>G (p.Ser917=) rs876659611
NM_000051.3(ATM):c.2751C>T (p.Ser917=) rs876659611
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.2762C>A (p.Ala921Asp) rs1555083332
NM_000051.3(ATM):c.2770C>A (p.Arg924=) rs55723361
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.277A>G (p.Lys93Glu) rs1555055234
NM_000051.3(ATM):c.2786T>C (p.Met929Thr) rs745737218
NM_000051.3(ATM):c.2791A>G (p.Ile931Val) rs1308253602
NM_000051.3(ATM):c.2799T>C (p.Ser933=) rs1555083381
NM_000051.3(ATM):c.2800A>G (p.Ser934Gly) rs772054979
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.2805G>A (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
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.2815A>G (p.Thr939Ala) rs864622606
NM_000051.3(ATM):c.2818A>G (p.Lys940Glu) rs1064795896
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+10G>A rs1555083482
NM_000051.3(ATM):c.2838+20G>A rs1310769991
NM_000051.3(ATM):c.2838+4A>G rs876659907
NM_000051.3(ATM):c.2838+9C>G rs370160823
NM_000051.3(ATM):c.2839-16C>T rs761953913
NM_000051.3(ATM):c.2839-18T>C rs553155942
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2839-4T>C rs1057522619
NM_000051.3(ATM):c.2839-6T>C rs1338486619
NM_000051.3(ATM):c.2839-7A>G rs1445472389
NM_000051.3(ATM):c.2839-8C>A rs1555084596
NM_000051.3(ATM):c.283C>A (p.Gln95Lys) rs587781545
NM_000051.3(ATM):c.283C>G (p.Gln95Glu) rs587781545
NM_000051.3(ATM):c.2841T>C (p.Tyr947=) rs1167845678
NM_000051.3(ATM):c.2845A>C (p.Met949Leu) rs1348704826
NM_000051.3(ATM):c.2847G>A (p.Met949Ile) rs1565424213
NM_000051.3(ATM):c.2848C>T (p.Leu950Phe) rs763064034
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.2859G>A (p.Glu953=) rs569489729
NM_000051.3(ATM):c.2865T>G (p.Pro955=) rs1555084654
NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.3(ATM):c.2879C>A (p.Pro960His) rs587779828
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2887A>G (p.Met963Val) rs374353016
NM_000051.3(ATM):c.2889G>A (p.Met963Ile) rs35098825
NM_000051.3(ATM):c.2894A>T (p.Asp965Val) rs876658628
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.2919A>G (p.Leu973=) rs587779829
NM_000051.3(ATM):c.2921+11A>G rs1565424678
NM_000051.3(ATM):c.2921+16C>A rs558376224
NM_000051.3(ATM):c.2921+17_2921+21delTTATG rs780315379
NM_000051.3(ATM):c.2921+18T>C rs1565424709
NM_000051.3(ATM):c.2921+19_2921+20insA rs56112367
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>T (p.Ser974Phe) rs538105098
NM_000051.3(ATM):c.2922-13T>C rs1565424946
NM_000051.3(ATM):c.2922-17T>C rs1565424925
NM_000051.3(ATM):c.2922-1G>T rs1555084931
NM_000051.3(ATM):c.2922-21T>G rs149096247
NM_000051.3(ATM):c.2922-21_2922-20delTTinsG rs1555084900
NM_000051.3(ATM):c.2922-21_2922-20delTTinsGG rs1555084898
NM_000051.3(ATM):c.2922-22_2922-20delTTT rs373881770
NM_000051.3(ATM):c.2922-22_2922-20delTTTinsGG rs1555084880
NM_000051.3(ATM):c.2922-22delT rs373881770
NM_000051.3(ATM):c.2922-4A>G rs1555084924
NM_000051.3(ATM):c.2922-5C>T rs1452462211
NM_000051.3(ATM):c.2922-8T>C rs545892367
NM_000051.3(ATM):c.2924A>G (p.Asn975Ser) rs730881354
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.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.2934T>G (p.Ser978=) rs368678134
NM_000051.3(ATM):c.2936T>C (p.Leu979Ser) rs1565425094
NM_000051.3(ATM):c.2938del (p.Tyr980fs) rs1565425118
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.2953G>C (p.Asp985His) rs1210518784
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.2958T>G (p.Val986=) rs745971584
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.2965A>G (p.Thr989Ala) rs1565425329
NM_000051.3(ATM):c.2967T>C (p.Thr989=) rs144145128
NM_000051.3(ATM):c.2975A>G (p.Asn992Ser) rs1060501589
NM_000051.3(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.3(ATM):c.2983C>G (p.Leu995Val) rs587779831
NM_000051.3(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.3(ATM):c.2988T>G (p.His996Gln) rs559676197
NM_000051.3(ATM):c.2989G>A (p.Val997Ile) rs1487902875
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.3007C>G (p.Gln1003Glu) rs1555085143
NM_000051.3(ATM):c.3008A>T (p.Gln1003Leu) rs1064815
NM_000051.3(ATM):c.300G>A (p.Leu100=) rs878853499
NM_000051.3(ATM):c.3011G>C (p.Ser1004Thr) 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.301G>A (p.Val101Ile) rs758483894
NM_000051.3(ATM):c.3024T>C (p.Ser1008=) rs1060504274
NM_000051.3(ATM):c.3030C>T (p.Asn1010=) rs876660913
NM_000051.3(ATM):c.303C>T (p.Val101=) rs1555055291
NM_000051.3(ATM):c.3040G>A (p.Ala1014Thr) rs587782163
NM_000051.3(ATM):c.3048A>G (p.Gly1016=) rs786203820
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.3077+13dup rs1555085272
NM_000051.3(ATM):c.3077+15T>C rs1555085277
NM_000051.3(ATM):c.3077+15delT rs1555085280
NM_000051.3(ATM):c.3077+19G>T rs1418513952
NM_000051.3(ATM):c.3077+21_3077+23delGGT rs1243820894
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3077+5G>A rs777003996
NM_000051.3(ATM):c.3077+8C>G rs752601608
NM_000051.3(ATM):c.3078-11C>A rs756972430
NM_000051.3(ATM):c.3078-11C>T rs756972430
NM_000051.3(ATM):c.3078-12A>T rs1555085749
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3083T>G (p.Leu1028Arg) rs1555085776
NM_000051.3(ATM):c.3084A>C (p.Leu1028=) rs1565427561
NM_000051.3(ATM):c.3088A>G (p.Lys1030Glu) rs863224561
NM_000051.3(ATM):c.3092A>G (p.Glu1031Gly) rs758708495
NM_000051.3(ATM):c.3092A>T (p.Glu1031Val) rs758708495
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.3110C>T (p.Ser1037Phe) rs1555085821
NM_000051.3(ATM):c.3112G>C (p.Val1038Leu) rs876659877
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3133T>G (p.Cys1045Gly) rs1565427891
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.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.3(ATM):c.3147G>A (p.Leu1049=) rs1060501686
NM_000051.3(ATM):c.3149T>G (p.Leu1050Arg) rs1555085890
NM_000051.3(ATM):c.3150T>C (p.Leu1050=) rs3092859
NM_000051.3(ATM):c.3151G>C (p.Glu1051Gln) rs774935453
NM_000051.3(ATM):c.3153+10dup rs1565428079
NM_000051.3(ATM):c.3153+11G>A rs760086749
NM_000051.3(ATM):c.3153+14_3153+16delinsTA rs1555085918
NM_000051.3(ATM):c.3153+18T>G rs1555085921
NM_000051.3(ATM):c.3153+19T>G rs1565428143
NM_000051.3(ATM):c.3153+20T>A rs200786429
NM_000051.3(ATM):c.3153+20T>C rs200786429
NM_000051.3(ATM):c.3153+20dup rs760492979
NM_000051.3(ATM):c.3153+3G>T rs1565428067
NM_000051.3(ATM):c.3153+9T>C rs770464168
NM_000051.3(ATM):c.3154-2A>G rs730881357
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.3154-5C>T rs55719759
NM_000051.3(ATM):c.3154-5_3154-4insAA rs1565428327
NM_000051.3(ATM):c.3155C>T (p.Ala1052Val) rs876660350
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
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.3181C>G (p.Leu1061Val) rs1565428509
NM_000051.3(ATM):c.3190A>G (p.Met1064Val) rs79431304
NM_000051.3(ATM):c.3197A>C (p.Lys1066Thr) rs926564671
NM_000051.3(ATM):c.3204T>C (p.Phe1068=) rs1555086059
NM_000051.3(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3210A>G (p.Val1070=) rs1443665212
NM_000051.3(ATM):c.3219A>G (p.Val1073=) rs752849892
NM_000051.3(ATM):c.3235G>A (p.Ala1079Thr) rs1565428827
NM_000051.3(ATM):c.3237T>C (p.Ala1079=) rs564238520
NM_000051.3(ATM):c.323C>G (p.Ala108Gly) rs766951228
NM_000051.3(ATM):c.3242A>G (p.Asn1081Ser) rs368111672
NM_000051.3(ATM):c.3244C>T (p.His1082Tyr) rs1302626569
NM_000051.3(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.3(ATM):c.3249C>G (p.His1083Gln) rs1246816005
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.3261del (p.Met1087fs) rs1565429054
NM_000051.3(ATM):c.3265G>A (p.Ala1089Thr) rs730881358
NM_000051.3(ATM):c.3265G>T (p.Ala1089Ser) rs730881358
NM_000051.3(ATM):c.3277A>G (p.Ile1093Val) rs876659667
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+11A>C rs1565429231
NM_000051.3(ATM):c.3284+16T>G rs376541962
NM_000051.3(ATM):c.3285-14delT rs1245305174
NM_000051.3(ATM):c.3285-15C>T rs770928986
NM_000051.3(ATM):c.3285-5T>C rs876659715
NM_000051.3(ATM):c.3285-7T>C rs913535107
NM_000051.3(ATM):c.3285-9delT rs1799757
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.3300G>A (p.Thr1100=) rs587780621
NM_000051.3(ATM):c.3300G>T (p.Thr1100=) rs587780621
NM_000051.3(ATM):c.3303G>A (p.Lys1101=) rs925487325
NM_000051.3(ATM):c.3308A>G (p.Asp1103Gly) rs1555090118
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+6T>G rs1555055363
NM_000051.3(ATM):c.331+7G>A rs1184757004
NM_000051.3(ATM):c.3315C>G (p.Ser1105=) rs1565439055
NM_000051.3(ATM):c.332-11T>C rs1565356404
NM_000051.3(ATM):c.332-3T>C rs376116157
NM_000051.3(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.3(ATM):c.3322C>T (p.Leu1108=) rs1555090147
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.332_334delGAG rs1060501621
NM_000051.3(ATM):c.3331C>G (p.Leu1111Val) rs587779832
NM_000051.3(ATM):c.3334C>G (p.Pro1112Ala) rs876658963
NM_000051.3(ATM):c.3335C>T (p.Pro1112Leu) rs1064795850
NM_000051.3(ATM):c.3336T>A (p.Pro1112=) rs758784434
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
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.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.3(ATM):c.3354A>G (p.Thr1118=) rs377316982
NM_000051.3(ATM):c.3369A>G (p.Ala1123=) rs587780543
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.3381T>C (p.Ala1127=) rs1371503633
NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3384G>A (p.Gln1128=) rs1565439537
NM_000051.3(ATM):c.3402+14A>C rs200494541
NM_000051.3(ATM):c.3402+16A>G rs763382531
NM_000051.3(ATM):c.3402+17T>C rs3092825
NM_000051.3(ATM):c.3402+1G>C rs1565439606
NM_000051.3(ATM):c.3402+3A>G rs786203688
NM_000051.3(ATM):c.3402+5T>C rs1057520229
NM_000051.3(ATM):c.3402+9A>G rs761919506
NM_000051.3(ATM):c.3403-13_3403-12insC rs1555091099
NM_000051.3(ATM):c.3403-14_3403-13insT rs1555091097
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.3403-15_3403-14insTA rs1555091084
NM_000051.3(ATM):c.3403-15delinsAA rs1555091094
NM_000051.3(ATM):c.3403-15delinsAAA rs1555091094
NM_000051.3(ATM):c.3403-15delinsATA rs1555091094
NM_000051.3(ATM):c.3403-3A>C rs374866638
NM_000051.3(ATM):c.3403-8_3403-4delTTTTT rs1555091114
NM_000051.3(ATM):c.3403T>G (p.Ser1135Ala) rs1565441341
NM_000051.3(ATM):c.3411T>C (p.Ser1137=) rs369518512
NM_000051.3(ATM):c.3413C>G (p.Ala1138Gly) rs1565441399
NM_000051.3(ATM):c.3414T>C (p.Ala1138=) rs1565441410
NM_000051.3(ATM):c.3449G>C (p.Arg1150Thr) rs555219189
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.3493A>G (p.Ser1165Gly) rs1351059730
NM_000051.3(ATM):c.3495C>A (p.Ser1165Arg) rs878853505
NM_000051.3(ATM):c.3495C>T (p.Ser1165=) rs878853505
NM_000051.3(ATM):c.3499A>G (p.Ile1167Val) rs1222634243
NM_000051.3(ATM):c.349T>G (p.Cys117Gly) rs1555059059
NM_000051.3(ATM):c.3501C>T (p.Ile1167=) rs1555091279
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.3514G>C (p.Ala1172Pro) rs779946941
NM_000051.3(ATM):c.3514G>T (p.Ala1172Ser) rs779946941
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.3532A>G (p.Lys1178Glu) rs1555091359
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
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.3549T>C (p.Asn1183=) rs767377764
NM_000051.3(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.3(ATM):c.3563A>C (p.His1188Pro) rs12786960
NM_000051.3(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.3(ATM):c.3575A>G (p.Lys1192Arg) rs1555091451
NM_000051.3(ATM):c.3576+14A>C rs1416761865
NM_000051.3(ATM):c.3576+687C>T rs1003623
NM_000051.3(ATM):c.3576+687_3576+688insTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT rs1555091763
NM_000051.3(ATM):c.3576+687delinsTTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT rs1555091761
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.3(ATM):c.3577-12delT rs730881288
NM_000051.3(ATM):c.3577-13T>C rs587780856
NM_000051.3(ATM):c.3577-15T>C rs1057521733
NM_000051.3(ATM):c.3577-6G>A rs56006345
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.3577G>A (p.Val1193Ile) rs779148780
NM_000051.3(ATM):c.3588A>G (p.Lys1196=) rs376524625
NM_000051.3(ATM):c.3594T>C (p.Ser1198=) rs1555092263
NM_000051.3(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.3(ATM):c.359T>C (p.Leu120Pro) rs1555059081
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.3605G>C (p.Gly1202Ala) rs1555092285
NM_000051.3(ATM):c.3609del (p.Gly1202_Tyr1203insTer) rs1555092297
NM_000051.3(ATM):c.360C>T (p.Leu120=) rs749489010
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.3618A>G (p.Leu1206=) rs786201151
NM_000051.3(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.3(ATM):c.3627T>C (p.Phe1209=) rs762605020
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.3639T>G (p.His1213Gln) rs142766756
NM_000051.3(ATM):c.3647A>G (p.Tyr1216Cys) rs1565444784
NM_000051.3(ATM):c.3650T>A (p.Leu1217Gln) rs1555092405
NM_000051.3(ATM):c.3660A>G (p.Glu1220=) rs876660835
NM_000051.3(ATM):c.3661T>A (p.Trp1221Arg) rs1565444832
NM_000051.3(ATM):c.366T>C (p.Asn122=) rs1178025248
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>T (p.Thr1227Ile) 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.3690C>T (p.Asn1230=) rs1555092475
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.3707_3711TTATT[1] (p.Leu1238fs) rs786201675
NM_000051.3(ATM):c.3709A>T (p.Ile1237Phe) rs1555092528
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.3719A>G (p.Asn1240Ser) rs1555092536
NM_000051.3(ATM):c.3723C>T (p.Tyr1241=) rs772331389
NM_000051.3(ATM):c.3728A>G (p.Asn1243Ser) rs730881363
NM_000051.3(ATM):c.372C>A (p.Ile124=) rs773495195
NM_000051.3(ATM):c.3735G>A (p.Glu1245=) rs1565445196
NM_000051.3(ATM):c.3739T>A (p.Phe1247Ile) rs886506379
NM_000051.3(ATM):c.3741C>T (p.Phe1247=) rs780396420
NM_000051.3(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370
NM_000051.3(ATM):c.3746+20A>G rs1555092607
NM_000051.3(ATM):c.3747-10C>G rs775274473
NM_000051.3(ATM):c.3747-16A>G rs1555093241
NM_000051.3(ATM):c.3747-8A>G rs569612113
NM_000051.3(ATM):c.3751T>C (p.Cys1251Arg) rs763730862
NM_000051.3(ATM):c.3754_3755TA[3] (p.Lys1253fs) rs1555093289
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3756T>C (p.Tyr1252=) rs886039637
NM_000051.3(ATM):c.3766A>T (p.Ile1256Phe) rs1030517820
NM_000051.3(ATM):c.3769C>G (p.Pro1257Ala) rs1565447002
NM_000051.3(ATM):c.3772C>A (p.His1258Asn) rs587782741
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.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.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.3811A>G (p.Ile1271Val) rs1555093407
NM_000051.3(ATM):c.3814G>A (p.Ala1272Thr) rs1555093420
NM_000051.3(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.3(ATM):c.3827A>G (p.Gln1276Arg) rs770183693
NM_000051.3(ATM):c.3828A>G (p.Gln1276=) rs1318728821
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.3834C>A (p.Asp1278Glu) rs534864280
NM_000051.3(ATM):c.3842G>A (p.Ser1281Asn) rs1064797161
NM_000051.3(ATM):c.3857G>T (p.Cys1286Phe) rs876660770
NM_000051.3(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.3(ATM):c.3886C>G (p.Pro1296Ala) rs864622654
NM_000051.3(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.3(ATM):c.3894dup (p.Ala1299fs) rs587781823
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.3906T>C (p.Gly1302=) rs1565447594
NM_000051.3(ATM):c.390T>C (p.Asp130=) rs1565356801
NM_000051.3(ATM):c.3917G>C (p.Ser1306Thr) rs1555093629
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.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3951G>A (p.Lys1317=) rs1485996895
NM_000051.3(ATM):c.3953T>G (p.Val1318Gly) rs1565447790
NM_000051.3(ATM):c.3961A>G (p.Met1321Val) rs730881366
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.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.3(ATM):c.3989A>G (p.Lys1330Arg) rs1565447970
NM_000051.3(ATM):c.3992A>G (p.Gln1331Arg) rs876658669
NM_000051.3(ATM):c.3993+18A>G rs201171518
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3993+3A>G rs771789242
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.3994-11_3994-4delTGCCCTTG rs1060501665
NM_000051.3(ATM):c.3994-12G>T rs1057520398
NM_000051.3(ATM):c.3994-157_3994-156delAG rs1555095694
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3994-2A>C rs587782276
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.3994-7C>T rs769346400
NM_000051.3(ATM):c.3998A>T (p.Asp1333Val) rs746709782
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4006T>C (p.Phe1336Leu) rs1565452452
NM_000051.3(ATM):c.4008C>T (p.Phe1336=) rs748055132
NM_000051.3(ATM):c.4018T>C (p.Leu1340=) rs1057522187
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.4022C>T (p.Pro1341Leu) rs1555095890
NM_000051.3(ATM):c.4023A>T (p.Pro1341=) rs1020202983
NM_000051.3(ATM):c.4024G>A (p.Glu1342Lys) rs1555095899
NM_000051.3(ATM):c.4030G>T (p.Val1344Leu) rs1565452575
NM_000051.3(ATM):c.4032G>A (p.Val1344=) rs769871715
NM_000051.3(ATM):c.4032G>C (p.Val1344=) rs769871715
NM_000051.3(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.3(ATM):c.4040T>A (p.Leu1347Ter) rs1565452621
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.4053A>G (p.Leu1351=) rs1565452695
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.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4071T>C (p.Ser1357=) rs767516955
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.4084A>G (p.Ser1362Gly) rs1565452907
NM_000051.3(ATM):c.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.3(ATM):c.4088C>G (p.Thr1363Ser) rs1555096040
NM_000051.3(ATM):c.4091A>G (p.Asp1364Gly) rs751169467
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.4104T>C (p.Phe1368=) rs569614591
NM_000051.3(ATM):c.4108G>C (p.Gly1370Arg) rs1301806793
NM_000051.3(ATM):c.4109+10T>A rs1236628481
NM_000051.3(ATM):c.4109+11T>C rs749158400
NM_000051.3(ATM):c.4109+6T>C rs368606937
NM_000051.3(ATM):c.4109+6T>G rs368606937
NM_000051.3(ATM):c.4110-11A>T rs760715107
NM_000051.3(ATM):c.4111delG rs797045114
NM_000051.3(ATM):c.411C>T (p.Tyr137=) rs756160533
NM_000051.3(ATM):c.4127C>G (p.Pro1376Arg) rs786202406
NM_000051.3(ATM):c.4132C>A (p.Pro1378Thr) rs1555096817
NM_000051.3(ATM):c.4133C>T (p.Pro1378Leu) rs750771205
NM_000051.3(ATM):c.4135C>T (p.Pro1379Ser) rs1555096828
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.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.3(ATM):c.4149G>A (p.Ser1383=) rs749180334
NM_000051.3(ATM):c.4156A>G (p.Ile1386Val) rs1555096895
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4173C>G (p.Ala1391=) rs1060504284
NM_000051.3(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.3(ATM):c.4179C>G (p.Ile1393Met) rs775688446
NM_000051.3(ATM):c.4184A>G (p.Asn1395Ser) rs375396787
NM_000051.3(ATM):c.4188T>C (p.Cys1396=) rs1565455129
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.4201T>A (p.Leu1401Ile) rs587779838
NM_000051.3(ATM):c.4211T>C (p.Ile1404Thr) rs1555096989
NM_000051.3(ATM):c.4222C>T (p.Leu1408Phe) rs1565455224
NM_000051.3(ATM):c.4236+11A>C rs368684533
NM_000051.3(ATM):c.4236+11A>G rs368684533
NM_000051.3(ATM):c.4236+12T>C rs369996463
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4236+7A>G rs1207435429
NM_000051.3(ATM):c.4237-14_4237-13delTG rs1555097353
NM_000051.3(ATM):c.4237-19A>C rs753311330
NM_000051.3(ATM):c.4237-7T>C rs1439775115
NM_000051.3(ATM):c.4237-8T>C rs750427647
NM_000051.3(ATM):c.4239T>C (p.Asp1413=) rs1565455938
NM_000051.3(ATM):c.4255_4257CTT[1] (p.Leu1420del) rs876659842
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.4261G>A (p.Ala1421Thr) rs1555097395
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.4271A>G (p.Glu1424Gly) rs1555097423
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.4297T>G (p.Tyr1433Asp) rs876659559
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.4321A>C (p.Ile1441Leu) rs774886013
NM_000051.3(ATM):c.4321A>G (p.Ile1441Val) 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.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.4341T>C (p.Ser1447=) rs1565456454
NM_000051.3(ATM):c.4348C>T (p.Leu1450=) rs1555097622
NM_000051.3(ATM):c.4350G>A (p.Leu1450=) rs1565456541
NM_000051.3(ATM):c.4353A>G (p.Lys1451=) rs1565456555
NM_000051.3(ATM):c.4358T>G (p.Ile1453Arg) rs587782126
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.4373del (p.Gly1458fs) rs587781653
NM_000051.3(ATM):c.4375G>A (p.Gly1459Arg) rs145667735
NM_000051.3(ATM):c.4379C>T (p.Ala1460Val) rs376165779
NM_000051.3(ATM):c.4380T>G (p.Ala1460=) rs1565456739
NM_000051.3(ATM):c.4381T>A (p.Trp1461Arg) rs982008501
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
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.4398A>G (p.Arg1466=) rs142728382
NM_000051.3(ATM):c.4398A>T (p.Arg1466=) rs142728382
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>G (p.His1474Asp) rs587779840
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4436+10A>G rs878853509
NM_000051.3(ATM):c.4436+13T>C rs1555097905
NM_000051.3(ATM):c.4436+9C>T rs1565457090
NM_000051.3(ATM):c.4437-13dup rs1555099701
NM_000051.3(ATM):c.4437-20T>G rs558432723
NM_000051.3(ATM):c.4437-5A>G rs876658290
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4437-8_4437-7insA rs1565460797
NM_000051.3(ATM):c.4437-9C>T rs766003804
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.4447A>G (p.Ile1483Val) rs1281685502
NM_000051.3(ATM):c.4449C>T (p.Ile1483=) rs786203726
NM_000051.3(ATM):c.445A>T (p.Ile149Phe) rs1565357194
NM_000051.3(ATM):c.4465C>T (p.Arg1489Cys) rs754181173
NM_000051.3(ATM):c.4466G>A (p.Arg1489His) rs201594549
NM_000051.3(ATM):c.4467T>C (p.Arg1489=) rs746296827
NM_000051.3(ATM):c.4468A>G (p.Ser1490Gly) rs876658711
NM_000051.3(ATM):c.446_449TTCT[1] (p.Leu150_Ser151insTer) rs771936821
NM_000051.3(ATM):c.4471T>C (p.Phe1491Leu) rs587781944
NM_000051.3(ATM):c.4471T>G (p.Phe1491Val) 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.4482T>C (p.Cys1494=) rs769071554
NM_000051.3(ATM):c.4492T>C (p.Leu1498=) rs748949478
NM_000051.3(ATM):c.4505G>T (p.Cys1502Phe) rs759340881
NM_000051.3(ATM):c.4515C>T (p.Ala1505=) rs540798997
NM_000051.3(ATM):c.4516G>T (p.Val1506Leu)
NM_000051.3(ATM):c.4521T>G (p.Thr1507=) rs1555099885
NM_000051.3(ATM):c.4523A>G (p.Tyr1508Cys) rs1565461319
NM_000051.3(ATM):c.4529A>G (p.Lys1510Arg) rs1208799683
NM_000051.3(ATM):c.452C>T (p.Ser151Phe) rs1565357249
NM_000051.3(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.3(ATM):c.4536T>C (p.Ala1512=) rs1555099909
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.4551T>C (p.Leu1517=) rs1459998980
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.4577C>T (p.Pro1526Leu) rs770590652
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4584G>A (p.Val1528=) rs1555100000
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.4611+13C>T rs1565461868
NM_000051.3(ATM):c.4611+19T>C rs776602821
NM_000051.3(ATM):c.4611+1delG rs1565461824
NM_000051.3(ATM):c.4611+8T>G rs1057522426
NM_000051.3(ATM):c.4611+9C>G rs760704159
NM_000051.3(ATM):c.4612-17T>C rs550966528
NM_000051.3(ATM):c.4612-3_4616delTAGGTATT rs773012957
NM_000051.3(ATM):c.4612-4T>G rs569983068
NM_000051.3(ATM):c.4612G>C (p.Val1538Leu) rs1034235291
NM_000051.3(ATM):c.4620C>T (p.Asp1540=) rs1329153013
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.4631A>G (p.Tyr1544Cys) rs779718362
NM_000051.3(ATM):c.4639A>T (p.Ile1547Leu) rs537377433
NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) rs587778075
NM_000051.3(ATM):c.4658A>G (p.Glu1553Gly) rs587778075
NM_000051.3(ATM):c.4662C>T (p.Asn1554=) rs776761757
NM_000051.3(ATM):c.4663C>T (p.Leu1555Phe) rs1555100478
NM_000051.3(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
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.4687G>C (p.Asp1563His) rs1464587365
NM_000051.3(ATM):c.4700A>G (p.Asp1567Gly) rs1565463108
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.471T>A (p.Cys157Ter) rs1555059459
NM_000051.3(ATM):c.4724G>A (p.Arg1575His) rs550552791
NM_000051.3(ATM):c.4725dup (p.Ile1576fs) rs1565463203
NM_000051.3(ATM):c.4731T>A (p.Thr1577=) rs145236132
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.4752T>C (p.Ser1584=) rs1555100601
NM_000051.3(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.3(ATM):c.4761C>T (p.Pro1587=) rs769562370
NM_000051.3(ATM):c.4772T>C (p.Leu1591Ser) rs1565463381
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+20C>A rs1565463486
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.3(ATM):c.4776+2_4776+13delTAATAAAAATTT rs762838462
NM_000051.3(ATM):c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA rs1555101600
NM_000051.3(ATM):c.4777-10delT rs1398289633
NM_000051.3(ATM):c.4777-1_4777insTTACATTTACATTTTAGTTAATTTTAG rs1555101604
NM_000051.3(ATM):c.4777-20A>G rs3218678
NM_000051.3(ATM):c.4777-7C>G rs1565465976
NM_000051.3(ATM):c.4777-7_4777-6delCT rs1064794458
NM_000051.3(ATM):c.4779A>G (p.Glu1593=) rs587778076
NM_000051.3(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.3(ATM):c.478T>G (p.Ser160Ala) rs761170769
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4792C>A (p.Leu1598Ile) rs375190373
NM_000051.3(ATM):c.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.4821A>G (p.Pro1607=) rs786203559
NM_000051.3(ATM):c.4822T>C (p.Leu1608=) rs775464644
NM_000051.3(ATM):c.4831C>G (p.Leu1611Val) rs1026156596
NM_000051.3(ATM):c.4835A>C (p.Glu1612Ala) rs1555101776
NM_000051.3(ATM):c.483G>A (p.Gln161=) rs864622742
NM_000051.3(ATM):c.4840C>T (p.Leu1614=) rs777239020
NM_000051.3(ATM):c.4845G>T (p.Lys1615Asn) rs888498126
NM_000051.3(ATM):c.4849C>G (p.Leu1617Val) rs1006483748
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.4856G>A (p.Arg1619Lys) rs730881393
NM_000051.3(ATM):c.4861C>T (p.Leu1621=) rs759289039
NM_000051.3(ATM):c.4869A>C (p.Leu1623=) rs767084038
NM_000051.3(ATM):c.4871A>G (p.His1624Arg) rs56354559
NM_000051.3(ATM):c.4880A>T (p.Gln1627Leu) rs786203857
NM_000051.3(ATM):c.4885G>C (p.Val1629Leu) rs876660748
NM_000051.3(ATM):c.4889_4901dup (p.Ser1635fs) rs1565466585
NM_000051.3(ATM):c.48A>G (p.Glu16=) rs774768437
NM_000051.3(ATM):c.4900G>A (p.Ala1634Thr) rs1565466632
NM_000051.3(ATM):c.4909+20T>C rs1401279002
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.4910-16A>T rs866500582
NM_000051.3(ATM):c.4910-20T>G rs773731240
NM_000051.3(ATM):c.4910-2A>T rs1555103156
NM_000051.3(ATM):c.4910-7T>C rs3092872
NM_000051.3(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.3(ATM):c.4915C>G (p.Pro1639Ala) rs1565469722
NM_000051.3(ATM):c.4916C>T (p.Pro1639Leu) rs752459491
NM_000051.3(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.3(ATM):c.4917G>T (p.Pro1639=) rs140425622
NM_000051.3(ATM):c.4921G>C (p.Asp1641His) rs587782896
NM_000051.3(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.3(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.3(ATM):c.4945G>A (p.Val1649Ile) rs1565469893
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.495A>C (p.Leu165Phe) rs1555059544
NM_000051.3(ATM):c.496+18T>A rs762171014
NM_000051.3(ATM):c.496+18T>C rs762171014
NM_000051.3(ATM):c.496+20G>C rs751245102
NM_000051.3(ATM):c.496+3A>G rs876658311
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.4963T>C (p.Ser1655Pro) rs1376280581
NM_000051.3(ATM):c.497-14_497-13insC rs776788385
NM_000051.3(ATM):c.497-18T>C rs1555066191
NM_000051.3(ATM):c.497-3A>G rs1046559213
NM_000051.3(ATM):c.497-4T>A rs876659621
NM_000051.3(ATM):c.4976T>C (p.Ile1659Thr) rs1555103271
NM_000051.3(ATM):c.4980C>T (p.Asn1660=) rs144338238
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.5002C>G (p.Leu1668Val) rs747317946
NM_000051.3(ATM):c.5002C>T (p.Leu1668=) rs747317946
NM_000051.3(ATM):c.5005+13C>T rs1192513529
NM_000051.3(ATM):c.5005+14A>T rs374337879
NM_000051.3(ATM):c.5005+15T>A rs377355762
NM_000051.3(ATM):c.5005+15T>C rs377355762
NM_000051.3(ATM):c.5005+17C>G rs200688912
NM_000051.3(ATM):c.5005+17C>T rs200688912
NM_000051.3(ATM):c.5005+18G>A rs76290788
NM_000051.3(ATM):c.5005+19C>G rs1064794787
NM_000051.3(ATM):c.5005+7_5005+8delTA rs587780626
NM_000051.3(ATM):c.5005+8A>G rs1204604787
NM_000051.3(ATM):c.5005+9C>T rs730881291
NM_000051.3(ATM):c.5006-18T>A rs768321973
NM_000051.3(ATM):c.5006-3T>A rs761297488
NM_000051.3(ATM):c.5006-9T>C rs1565473375
NM_000051.3(ATM):c.5009C>T (p.Ala1670Val) rs375131360
NM_000051.3(ATM):c.5018_5020GCT[1] (p.Cys1674del) rs1555104505
NM_000051.3(ATM):c.5020T>C (p.Cys1674Arg) rs1555104511
NM_000051.3(ATM):c.5034G>C (p.Val1678=) rs1555104548
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.504C>G (p.Phe168Leu) rs1060504312
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.5062A>G (p.Ile1688Val) rs766053182
NM_000051.3(ATM):c.5063T>C (p.Ile1688Thr) rs199836342
NM_000051.3(ATM):c.5070T>C (p.His1690=) rs1555104631
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.507T>C (p.Ser169=) rs758619186
NM_000051.3(ATM):c.5080G>A (p.Ala1694Thr) rs756197350
NM_000051.3(ATM):c.5087A>T (p.Tyr1696Phe) rs1555104673
NM_000051.3(ATM):c.5089A>G (p.Thr1697Ala) rs142455912
NM_000051.3(ATM):c.5098del (p.Lys1701fs) rs1555104689
NM_000051.3(ATM):c.5108T>C (p.Phe1703Ser) rs772376652
NM_000051.3(ATM):c.510G>A (p.Val170=) rs375682557
NM_000051.3(ATM):c.5113G>A (p.Asp1705Asn) rs1565474013
NM_000051.3(ATM):c.5125C>A (p.Gln1709Lys) rs1341457041
NM_000051.3(ATM):c.5133C>T (p.Thr1711=) rs1357021067
NM_000051.3(ATM):c.5144T>C (p.Leu1715Pro) rs747800057
NM_000051.3(ATM):c.5153T>A (p.Leu1718Gln) rs1555104784
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.5167G>A (p.Val1723Ile) rs1565474312
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5178-20A>G rs1565476588
NM_000051.3(ATM):c.5178-4dup rs747750958
NM_000051.3(ATM):c.5185G>C (p.Val1729Leu) rs3092907
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.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.3(ATM):c.518G>T (p.Arg173Met) rs372694758
NM_000051.3(ATM):c.5195C>G (p.Ala1732Gly) rs1565476801
NM_000051.3(ATM):c.5204C>G (p.Thr1735Ser) rs1555105650
NM_000051.3(ATM):c.5226C>T (p.Ala1742=) rs750881004
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.5240A>G (p.His1747Arg) rs1555105695
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.5256T>A (p.Ile1752=) rs1555105718
NM_000051.3(ATM):c.5256T>C (p.Ile1752=) rs1555105718
NM_000051.3(ATM):c.5258A>C (p.Tyr1753Ser) rs777481236
NM_000051.3(ATM):c.5262G>T (p.Lys1754Asn) rs748900588
NM_000051.3(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.3(ATM):c.526C>G (p.Leu176Val) rs375798802
NM_000051.3(ATM):c.526C>T (p.Leu176=) rs375798802
NM_000051.3(ATM):c.5271A>G (p.Thr1757=) rs1555105759
NM_000051.3(ATM):c.5274T>A (p.Asp1758Glu) rs913665369
NM_000051.3(ATM):c.5278A>G (p.Met1760Val) rs151327241
NM_000051.3(ATM):c.5278A>T (p.Met1760Leu) rs151327241
NM_000051.3(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_000051.3(ATM):c.5300T>G (p.Phe1767Cys) rs864622125
NM_000051.3(ATM):c.5310A>G (p.Ser1770=) rs1060504282
NM_000051.3(ATM):c.5319+20T>C rs775616416
NM_000051.3(ATM):c.5319+3C>A rs371640963
NM_000051.3(ATM):c.5319+5C>G rs1565477462
NM_000051.3(ATM):c.5319+6_5319+7delTT rs777478613
NM_000051.3(ATM):c.5319+7T>A rs925428128
NM_000051.3(ATM):c.5319+8A>G rs375051697
NM_000051.3(ATM):c.5320-10T>C rs864622731
NM_000051.3(ATM):c.5320-13C>T rs1565478723
NM_000051.3(ATM):c.5320-4C>G rs1316146972
NM_000051.3(ATM):c.5320-6_5320-3delTTCT rs864622386
NM_000051.3(ATM):c.5324T>C (p.Leu1775Ser) rs1256064321
NM_000051.3(ATM):c.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.5355T>G (p.Pro1785=) rs1025083720
NM_000051.3(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.3(ATM):c.5362G>A (p.Gly1788Ser) rs730881373
NM_000051.3(ATM):c.5369A>G (p.Asp1790Gly) rs746945284
NM_000051.3(ATM):c.5374A>G (p.Ile1792Val) rs1555106405
NM_000051.3(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.3(ATM):c.5392C>T (p.Leu1798=) rs879254274
NM_000051.3(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.3(ATM):c.5405dup (p.His1802fs) rs1555106452
NM_000051.3(ATM):c.5410A>T (p.Ile1804Phe) rs769872474
NM_000051.3(ATM):c.5416A>C (p.Ile1806Leu) rs1565479163
NM_000051.3(ATM):c.5417T>C (p.Ile1806Thr) rs773546064
NM_000051.3(ATM):c.5418A>G (p.Ile1806Met) rs763020528
NM_000051.3(ATM):c.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.5470C>T (p.Leu1824Phe) rs764784077
NM_000051.3(ATM):c.5473C>A (p.Gln1825Lys) rs1555106553
NM_000051.3(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.3(ATM):c.5476_5478TTA[1] (p.Leu1827del)
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.5490G>A (p.Met1830Ile) rs779720793
NM_000051.3(ATM):c.5496+11T>C rs751491395
NM_000051.3(ATM):c.5496+13_5496+16delATTA rs1382076363
NM_000051.3(ATM):c.5496+4A>G rs1565479590
NM_000051.3(ATM):c.5497-15G>C rs3092828
NM_000051.3(ATM):c.5497-19A>G rs1555107231
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.5509T>G (p.Phe1837Val) rs876660472
NM_000051.3(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.3(ATM):c.5523A>C (p.Val1841=) rs1060504268
NM_000051.3(ATM):c.5534T>C (p.Leu1845Ser) rs1555107319
NM_000051.3(ATM):c.5550A>G (p.Leu1850=) rs35850088
NM_000051.3(ATM):c.5551C>G (p.Leu1851Val) rs200842502
NM_000051.3(ATM):c.5551C>T (p.Leu1851Phe) rs200842502
NM_000051.3(ATM):c.5554dup (p.Gln1852fs) rs1555107356
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5557_5558delinsAT (p.Asp1853Ile) rs1555107380
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5561C>T (p.Thr1854Ile) rs138710254
NM_000051.3(ATM):c.5566G>A (p.Glu1856Lys) rs1465041573
NM_000051.3(ATM):c.5575A>G (p.Arg1859Gly) rs1565481925
NM_000051.3(ATM):c.5583G>A (p.Leu1861=) rs781383087
NM_000051.3(ATM):c.5586T>G (p.Leu1862=) rs1555107431
NM_000051.3(ATM):c.5589T>C (p.Ser1863=) rs786203902
NM_000051.3(ATM):c.5591C>G (p.Thr1864Arg) rs779156037
NM_000051.3(ATM):c.5595T>C (p.His1865=) rs772261410
NM_000051.3(ATM):c.5596G>A (p.Val1866Ile) rs1468995507
NM_000051.3(ATM):c.5601G>A (p.Gln1867=) rs1555107464
NM_000051.3(ATM):c.5602G>A (p.Gly1868Arg) rs1565482078
NM_000051.3(ATM):c.5612C>T (p.Thr1871Ile) rs538452060
NM_000051.3(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239
NM_000051.3(ATM):c.5618G>T (p.Cys1873Phe) rs587782239
NM_000051.3(ATM):c.5623C>A (p.Arg1875=) rs376603775
NM_000051.3(ATM):c.5623C>T (p.Arg1875Ter) rs376603775
NM_000051.3(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.3(ATM):c.5626C>T (p.His1876Tyr) rs1060501567
NM_000051.3(ATM):c.5628C>A (p.His1876Gln) rs1237700879
NM_000051.3(ATM):c.5630T>C (p.Phe1877Ser) rs202028401
NM_000051.3(ATM):c.5633C>T (p.Ser1878Leu) rs758908522
NM_000051.3(ATM):c.5639C>T (p.Thr1880Met) rs587780628
NM_000051.3(ATM):c.5640G>A (p.Thr1880=) rs757103582
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5651C>T (p.Thr1884Ile) rs1565482352
NM_000051.3(ATM):c.5653A>G (p.Thr1885Ala) rs587779850
NM_000051.3(ATM):c.5653A>T (p.Thr1885Ser) rs587779850
NM_000051.3(ATM):c.5658T>C (p.Pro1886=) rs940182945
NM_000051.3(ATM):c.5661A>G (p.Ala1887=) rs876658939
NM_000051.3(ATM):c.5666T>G (p.Leu1889Trp) rs1555107606
NM_000051.3(ATM):c.5674+13A>G rs1555107618
NM_000051.3(ATM):c.5674+1G>T rs1565482453
NM_000051.3(ATM):c.5674+6C>G rs780204400
NM_000051.3(ATM):c.5674G>A (p.Glu1892Lys) rs730881375
NM_000051.3(ATM):c.5675-13T>A rs373219694
NM_000051.3(ATM):c.5675-15A>G rs1565485867
NM_000051.3(ATM):c.5675-4T>A rs56075338
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>C (p.Cys1899Arg) rs373213507
NM_000051.3(ATM):c.56G>C (p.Arg19Thr) rs1064793029
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.5728C>A (p.Leu1910Ile) rs143577586
NM_000051.3(ATM):c.5732_5748del (p.Ala1911fs) rs1565486174
NM_000051.3(ATM):c.5734G>A (p.Val1912Ile) rs1064794105
NM_000051.3(ATM):c.5747T>C (p.Met1916Thr) rs1060501557
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.5757A>G (p.Gln1919=) rs1555109182
NM_000051.3(ATM):c.5758_5759del (p.Lys1920fs) rs1555109177
NM_000051.3(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.3(ATM):c.5761_5762del rs1565486341
NM_000051.3(ATM):c.5762+10T>G rs1276744102
NM_000051.3(ATM):c.5762+19C>T rs1170960696
NM_000051.3(ATM):c.5762+6G>A rs776532221
NM_000051.3(ATM):c.590G>A (p.Gly197Glu) rs753806542
NM_000051.3(ATM):c.591A>T (p.Gly197=) rs587780630
NM_000051.3(ATM):c.5G>A (p.Ser2Asn) rs730881360
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
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.616A>C (p.Asn206His) rs587781829
NM_000051.3(ATM):c.620C>G (p.Ser207Cys) rs876660296
NM_000051.3(ATM):c.622A>C (p.Lys208Gln) rs1292617227
NM_000051.3(ATM):c.632A>T (p.Asp211Val) rs1387925127
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.649_651dup (p.Ile217dup) rs1565369864
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.660G>A (p.Ala220=) rs763669136
NM_000051.3(ATM):c.662+13C>G rs1565369998
NM_000051.3(ATM):c.662+14T>A rs1450503203
NM_000051.3(ATM):c.662+18del rs1565370014
NM_000051.3(ATM):c.662+6C>G rs1565369978
NM_000051.3(ATM):c.662+8_662+12delAATCT rs864622475
NM_000051.3(ATM):c.663-20G>C rs1555066898
NM_000051.3(ATM):c.665A>C (p.Gln222Pro) rs1565370993
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>T (p.Lys224Asn) rs769731317
NM_000051.3(ATM):c.67C>G (p.Arg23Gly) rs746235533
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>C (p.Leu229=) rs3218706
NM_000051.3(ATM):c.687A>G (p.Leu229=) rs3218706
NM_000051.3(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.3(ATM):c.692A>C (p.His231Pro) rs587782229
NM_000051.3(ATM):c.692A>G (p.His231Arg) rs587782229
NM_000051.3(ATM):c.699_701AGC[1] (p.Ala235del)
NM_000051.3(ATM):c.69A>G (p.Arg23=) rs876659304
NM_000051.3(ATM):c.702A>G (p.Ala234=) rs752751588
NM_000051.3(ATM):c.706C>G (p.Leu236Val) rs886042866
NM_000051.3(ATM):c.709A>G (p.Thr237Ala) rs376529329
NM_000051.3(ATM):c.70A>G (p.Lys24Glu) rs1469464426
NM_000051.3(ATM):c.712A>G (p.Ile238Val) rs754275014
NM_000051.3(ATM):c.71A>T (p.Lys24Met) rs1060501710
NM_000051.3(ATM):c.72+16A>C rs1565344289
NM_000051.3(ATM):c.72+1G>A rs786204088
NM_000051.3(ATM):c.73-15C>A rs1216989217
NM_000051.3(ATM):c.73-3del rs1565344403
NM_000051.3(ATM):c.73-4T>C rs1565344387
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.3(ATM):c.741dup (p.Arg248fs) rs1131691161
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.3(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.3(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.753G>A (p.Val251=) rs876658806
NM_000051.3(ATM):c.75_78del rs1565344409
NM_000051.3(ATM):c.762A>G (p.Leu254=) rs1313709939
NM_000051.3(ATM):c.763G>C (p.Gly255Arg)
NM_000051.3(ATM):c.76G>C (p.Glu26Gln) rs730881361
NM_000051.3(ATM):c.773T>A (p.Ile258Asn) rs730881337
NM_000051.3(ATM):c.776T>A (p.Leu259His) rs1565371619
NM_000051.3(ATM):c.787C>T (p.Leu263Phe) rs876659531
NM_000051.3(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.3(ATM):c.801T>C (p.Thr267=) rs1555067173
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>T (p.Leu271Phe) rs730881339
NM_000051.3(ATM):c.814A>C (p.Asn272His) rs1565371810
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.838A>G (p.Ile280Val) rs764048041
NM_000051.3(ATM):c.844T>C (p.Leu282=) rs1565371944
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.858A>G (p.Gln286=) rs145301478
NM_000051.3(ATM):c.862T>C (p.Tyr288His) rs1565372057
NM_000051.3(ATM):c.864del (p.Ile287_Tyr288insTer) rs1565372075
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.894A>C (p.Gln298His) rs1555067327
NM_000051.3(ATM):c.896A>G (p.Glu299Gly) rs587779876
NM_000051.3(ATM):c.901+12A>G rs759379354
NM_000051.3(ATM):c.901+17T>C rs774302699
NM_000051.3(ATM):c.901+18A>G rs1555067368
NM_000051.3(ATM):c.901+2T>C rs1218815157
NM_000051.3(ATM):c.901+3A>T rs786203070
NM_000051.3(ATM):c.901+7A>G rs1057523569
NM_000051.3(ATM):c.901G>A (p.Gly301Ser) rs1064797160
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.912A>G (p.Glu304=) rs1286754263
NM_000051.3(ATM):c.917C>G (p.Thr306Arg) rs1565374923
NM_000051.3(ATM):c.921A>T (p.Lys307Asn) rs1555068322
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.941A>G (p.Asn314Ser) rs886047610
NM_000051.3(ATM):c.944del (p.Leu315fs) rs1565375035
NM_000051.3(ATM):c.946T>C (p.Tyr316His) rs142317485
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000051.3(ATM):c.95G>A (p.Arg32His) rs368161489
NM_000051.3(ATM):c.962A>G (p.Asn321Ser) rs1555068398
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.3(ATM):c.977T>C (p.Ile326Thr) rs768720856
NM_000051.3(ATM):c.97C>T (p.Leu33=) rs1057522542
NM_000051.3(ATM):c.982A>C (p.Ser328Arg) rs1555068433
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.998C>T (p.Ser333Phe) rs28904919
NM_000051.3(ATM):c.9A>G (p.Leu3=) rs1555053869
NM_001351834.2(ATM):c.3403-13dup rs3218681

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