ClinVar Miner

List of variants in gene ATM reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1001
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1006T>C (p.Phe336Leu) rs1555068485
NM_000051.3(ATM):c.1008T>G (p.Phe336Leu) rs1555068492
NM_000051.3(ATM):c.1009C>A (p.Arg337Ser) rs138398778
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.100A>G (p.Ile34Val) rs1555054094
NM_000051.3(ATM):c.1015A>G (p.Ile339Val) rs876659567
NM_000051.3(ATM):c.1019C>A (p.Ala340Asp) rs730881387
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.1038T>G (p.Ile346Met) rs749950833
NM_000051.3(ATM):c.1039_1040delinsTT (p.Glu347Leu) rs1555068567
NM_000051.3(ATM):c.1044G>T (p.Leu348Phe) rs879254039
NM_000051.3(ATM):c.1048G>A (p.Ala350Thr) rs371713984
NM_000051.3(ATM):c.1049C>T (p.Ala350Val) rs375049090
NM_000051.3(ATM):c.104G>A (p.Arg35Gln) rs876659324
NM_000051.3(ATM):c.1051G>A (p.Asp351Asn) rs876659092
NM_000051.3(ATM):c.1065+3A>G rs1282724169
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1076A>G (p.Glu359Gly) rs1555069537
NM_000051.3(ATM):c.1080T>G (p.Asp360Glu) rs199869975
NM_000051.3(ATM):c.1091T>C (p.Leu364Ser) rs1555069575
NM_000051.3(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.3(ATM):c.10G>T (p.Val4Leu) rs1438588853
NM_000051.3(ATM):c.1112C>T (p.Thr371Ile) rs879254289
NM_000051.3(ATM):c.1118C>G (p.Thr373Arg) rs876659275
NM_000051.3(ATM):c.1121A>G (p.Gln374Arg) rs1555069640
NM_000051.3(ATM):c.1129T>C (p.Ser377Pro) rs876660620
NM_000051.3(ATM):c.1130C>G (p.Ser377Cys) rs1555069665
NM_000051.3(ATM):c.1138T>A (p.Tyr380Asn) rs34083085
NM_000051.3(ATM):c.1139A>G (p.Tyr380Cys) rs786203855
NM_000051.3(ATM):c.1141A>G (p.Ser381Gly) rs786203602
NM_000051.3(ATM):c.1142G>T (p.Ser381Ile) rs1462596554
NM_000051.3(ATM):c.1152C>G (p.Cys384Trp) rs777755997
NM_000051.3(ATM):c.1159A>C (p.Lys387Gln) rs786202686
NM_000051.3(ATM):c.1159A>G (p.Lys387Glu) rs786202686
NM_000051.3(ATM):c.115A>G (p.Thr39Ala) rs779297339
NM_000051.3(ATM):c.1162A>G (p.Lys388Glu) rs876659570
NM_000051.3(ATM):c.1163A>G (p.Lys388Arg) rs1060501618
NM_000051.3(ATM):c.1168G>A (p.Glu390Lys) rs876660106
NM_000051.3(ATM):c.116C>G (p.Thr39Arg) rs1555054109
NM_000051.3(ATM):c.1175G>T (p.Gly392Val) rs779035681
NM_000051.3(ATM):c.1178G>T (p.Trp393Leu) rs1025339570
NM_000051.3(ATM):c.1179G>C (p.Trp393Cys) rs876658567
NM_000051.3(ATM):c.1192G>A (p.Asp398Asn) rs876658833
NM_000051.3(ATM):c.1208C>T (p.Ser403Leu) rs747563556
NM_000051.3(ATM):c.1219_1221dup (p.Phe407dup) rs1064792998
NM_000051.3(ATM):c.1223A>G (p.Asp408Gly) rs587781582
NM_000051.3(ATM):c.1225C>T (p.Leu409Phe) rs786203815
NM_000051.3(ATM):c.1234T>C (p.Trp412Arg) rs587779812
NM_000051.3(ATM):c.1235+3A>G rs1417190414
NM_000051.3(ATM):c.1235+4A>G rs786203147
NM_000051.3(ATM):c.1235+4A>T rs786203147
NM_000051.3(ATM):c.1235+4_1235+5del rs770033355
NM_000051.3(ATM):c.1242G>T (p.Gln414His) rs786203667
NM_000051.3(ATM):c.1245T>G (p.Ile415Met) rs1060501554
NM_000051.3(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.3(ATM):c.1261T>C (p.Ser421Pro) rs376196220
NM_000051.3(ATM):c.1261_1263del (p.Ser421del) rs1555070666
NM_000051.3(ATM):c.126T>G (p.His42Gln) rs587781661
NM_000051.3(ATM):c.1271C>A (p.Pro424His) rs147472613
NM_000051.3(ATM):c.127C>G (p.Leu43Val) rs772591447
NM_000051.3(ATM):c.1292A>C (p.Glu431Ala) rs1320262218
NM_000051.3(ATM):c.1300C>T (p.Pro434Ser) rs1064795171
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.1336C>A (p.Gln446Lys) rs587782121
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.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.1363G>A (p.Val455Met) rs368879876
NM_000051.3(ATM):c.1364T>C (p.Val455Ala) rs876658772
NM_000051.3(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.3(ATM):c.1372T>C (p.Cys458Arg) rs876660619
NM_000051.3(ATM):c.1378A>C (p.Thr460Pro) rs587782729
NM_000051.3(ATM):c.1379C>T (p.Thr460Met) rs587781841
NM_000051.3(ATM):c.1392G>T (p.Leu464Phe) rs760191806
NM_000051.3(ATM):c.1394G>C (p.Cys465Ser) rs1555070888
NM_000051.3(ATM):c.1395T>G (p.Cys465Trp) rs1240144277
NM_000051.3(ATM):c.1396C>G (p.Gln466Glu) rs876660485
NM_000051.3(ATM):c.1402A>G (p.Lys468Glu) rs876660820
NM_000051.3(ATM):c.1421G>T (p.Ser474Ile) rs876659240
NM_000051.3(ATM):c.1431G>C (p.Lys477Asn) rs1555070941
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.1443A>C (p.Leu481Phe) rs753808755
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.1464G>T (p.Trp488Cys) rs377597949
NM_000051.3(ATM):c.146C>T (p.Ser49Phe) rs1800054
NM_000051.3(ATM):c.1475T>C (p.Phe492Ser) rs1555071017
NM_000051.3(ATM):c.1477C>T (p.Arg493Cys) rs750280306
NM_000051.3(ATM):c.1481G>A (p.Gly494Asp) rs786202233
NM_000051.3(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.3(ATM):c.1487G>A (p.Ser496Asn) rs778890679
NM_000051.3(ATM):c.1492G>C (p.Glu498Gln) rs1555071060
NM_000051.3(ATM):c.1505C>G (p.Ala502Gly) rs766595156
NM_000051.3(ATM):c.1514T>G (p.Phe505Cys) rs1555071109
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.1528G>A (p.Ala510Thr) rs1555071138
NM_000051.3(ATM):c.1534A>G (p.Ile512Val) rs876658180
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.157A>C (p.Lys53Gln) rs876659078
NM_000051.3(ATM):c.1582A>G (p.Thr528Ala) rs876658647
NM_000051.3(ATM):c.1591G>C (p.Ala531Pro) rs876660941
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1601C>G (p.Pro534Arg) rs587782212
NM_000051.3(ATM):c.1608-3T>C rs774196176
NM_000051.3(ATM):c.1610C>A (p.Pro537His) rs587782463
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.1640C>T (p.Thr547Ile) rs786203572
NM_000051.3(ATM):c.1642A>G (p.Thr548Ala) rs878853486
NM_000051.3(ATM):c.1649T>G (p.Ile550Arg) rs864622285
NM_000051.3(ATM):c.1661C>T (p.Thr554Met) rs1060501694
NM_000051.3(ATM):c.1670T>C (p.Met557Thr) rs786202770
NM_000051.3(ATM):c.1671G>A (p.Met557Ile) rs730881341
NM_000051.3(ATM):c.1673G>C (p.Gly558Ala) rs1064795257
NM_000051.3(ATM):c.1673G>T (p.Gly558Val) rs1064795257
NM_000051.3(ATM):c.1685A>G (p.Asn562Ser) rs368209025
NM_000051.3(ATM):c.1688T>G (p.Met563Arg) rs750815208
NM_000051.3(ATM):c.169T>C (p.Trp57Arg) rs1555054238
NM_000051.3(ATM):c.1700A>G (p.Asn567Ser) rs786203230
NM_000051.3(ATM):c.1702A>G (p.Arg568Gly) rs876659425
NM_000051.3(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1704A>C (p.Arg568Ser) rs878853488
NM_000051.3(ATM):c.171G>T (p.Trp57Cys) rs1555054249
NM_000051.3(ATM):c.1722A>C (p.Glu574Asp) rs372334891
NM_000051.3(ATM):c.1727T>C (p.Ile576Thr) rs730881342
NM_000051.3(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.3(ATM):c.1732A>C (p.Lys578Gln) rs1555071926
NM_000051.3(ATM):c.1741T>G (p.Leu581Val) rs876659822
NM_000051.3(ATM):c.1748A>G (p.Tyr583Cys) rs587780614
NM_000051.3(ATM):c.1751A>C (p.Gln584Pro) rs876660149
NM_000051.3(ATM):c.1757A>T (p.Glu586Val) rs587781907
NM_000051.3(ATM):c.175G>T (p.Ala59Ser) rs752527112
NM_000051.3(ATM):c.176C>T (p.Ala59Val) rs760880388
NM_000051.3(ATM):c.1775G>A (p.Ser592Asn) rs776911505
NM_000051.3(ATM):c.1776C>A (p.Ser592Arg) rs1057524304
NM_000051.3(ATM):c.1792A>G (p.Ile598Val) rs730881343
NM_000051.3(ATM):c.179T>C (p.Val60Ala) rs988441570
NM_000051.3(ATM):c.1803-4G>A rs876659300
NM_000051.3(ATM):c.1803-5T>C rs786203034
NM_000051.3(ATM):c.1813C>T (p.His605Tyr) rs786202928
NM_000051.3(ATM):c.182T>C (p.Phe61Ser) rs786203063
NM_000051.3(ATM):c.1834C>G (p.Leu612Val) rs747242300
NM_000051.3(ATM):c.1837G>T (p.Val613Leu) rs200124136
NM_000051.3(ATM):c.1838T>G (p.Val613Gly) rs762018538
NM_000051.3(ATM):c.1841G>C (p.Ser614Thr) rs770377706
NM_000051.3(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.3(ATM):c.1846A>G (p.Thr616Ala) rs587780615
NM_000051.3(ATM):c.1849A>G (p.Met617Val) rs1555072530
NM_000051.3(ATM):c.184A>G (p.Arg62Gly) rs876659407
NM_000051.3(ATM):c.185+4T>A rs1060501685
NM_000051.3(ATM):c.1852A>G (p.Lys618Glu) rs1555072538
NM_000051.3(ATM):c.1855A>C (p.Asn619His) rs140882609
NM_000051.3(ATM):c.1870A>G (p.Met624Val) rs863224557
NM_000051.3(ATM):c.1880T>G (p.Phe627Cys) rs546087885
NM_000051.3(ATM):c.1888G>A (p.Val630Met) rs148191382
NM_000051.3(ATM):c.1889T>C (p.Val630Ala) rs587782226
NM_000051.3(ATM):c.1892C>T (p.Pro631Leu) rs756782634
NM_000051.3(ATM):c.1898+3A>G rs200169643
NM_000051.3(ATM):c.1899-3A>G rs1555073062
NM_000051.3(ATM):c.1899T>G (p.Cys633Trp) rs1040176168
NM_000051.3(ATM):c.1903C>T (p.His635Tyr) rs761491947
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.1914A>C (p.Lys638Asn) rs587781753
NM_000051.3(ATM):c.1921_1923GAA[1] (p.Glu642del) rs876659575
NM_000051.3(ATM):c.1926A>T (p.Glu642Asp) rs786201469
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>C (p.Leu651Pro) rs1555073179
NM_000051.3(ATM):c.1956T>G (p.Phe652Leu) rs587782544
NM_000051.3(ATM):c.1960C>A (p.Gln654Lys) rs528165789
NM_000051.3(ATM):c.1961A>C (p.Gln654Pro) rs876659966
NM_000051.3(ATM):c.1966A>G (p.Thr656Ala) rs1064793032
NM_000051.3(ATM):c.1977G>T (p.Lys659Asn) rs1060501565
NM_000051.3(ATM):c.1979T>C (p.Met660Thr) rs1298234172
NM_000051.3(ATM):c.2002G>A (p.Glu668Lys) rs876659808
NM_000051.3(ATM):c.2005T>C (p.Cys669Arg) rs587782141
NM_000051.3(ATM):c.2009G>A (p.Gly670Asp) rs887944555
NM_000051.3(ATM):c.200A>G (p.Tyr67Cys) rs754033733
NM_000051.3(ATM):c.2012T>A (p.Ile671Lys) rs750897021
NM_000051.3(ATM):c.2019_2020insGACAAG (p.His674_Gln675insAspLys) rs876659686
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>T (p.Gly679Val) rs544123518
NM_000051.3(ATM):c.2042C>T (p.Ser681Phe) rs1060501585
NM_000051.3(ATM):c.2048A>G (p.His683Arg) rs1421091487
NM_000051.3(ATM):c.2051A>G (p.Gln684Arg) rs772393149
NM_000051.3(ATM):c.2054A>T (p.Asn685Ile) rs1412443702
NM_000051.3(ATM):c.2057T>A (p.Leu686His) rs1239416977
NM_000051.3(ATM):c.2062G>A (p.Glu688Lys) rs769338089
NM_000051.3(ATM):c.2075G>T (p.Arg692Leu) rs751515818
NM_000051.3(ATM):c.2108A>G (p.Asn703Ser) rs587781304
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.2125-4T>C rs1064795623
NM_000051.3(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.3(ATM):c.2131A>G (p.Asn711Asp) rs587781654
NM_000051.3(ATM):c.2141C>T (p.Thr714Ile) rs1555074846
NM_000051.3(ATM):c.2143C>T (p.Leu715Phe) rs758864982
NM_000051.3(ATM):c.2149C>T (p.Arg717Trp) rs147515380
NM_000051.3(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.3(ATM):c.2150G>C (p.Arg717Pro) rs768874297
NM_000051.3(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.3(ATM):c.2159G>A (p.Arg720His) rs55830714
NM_000051.3(ATM):c.215C>T (p.Thr72Ile) rs876658893
NM_000051.3(ATM):c.2166G>A (p.Leu722=) rs1555074886
NM_000051.3(ATM):c.2168T>C (p.Val723Ala) rs745399310
NM_000051.3(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.3(ATM):c.2171G>A (p.Gly724Asp) rs1555074904
NM_000051.3(ATM):c.2176C>T (p.Leu726Phe) rs775266056
NM_000051.3(ATM):c.2186A>G (p.Tyr729Cys) rs1555074940
NM_000051.3(ATM):c.2188T>G (p.Cys730Gly) rs1555074947
NM_000051.3(ATM):c.2189G>A (p.Cys730Tyr) rs587781595
NM_000051.3(ATM):c.2192A>T (p.Tyr731Phe) rs730881345
NM_000051.3(ATM):c.2218G>A (p.Ala740Thr) rs786201866
NM_000051.3(ATM):c.2245G>A (p.Ala749Thr) rs876660163
NM_000051.3(ATM):c.2250+5G>A rs1555075047
NM_000051.3(ATM):c.2251-4A>G rs786202935
NM_000051.3(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.3(ATM):c.2258T>C (p.Met753Thr) rs587781607
NM_000051.3(ATM):c.2260C>A (p.Gln754Lys) rs3205809
NM_000051.3(ATM):c.2263T>C (p.Cys755Arg) rs1060501646
NM_000051.3(ATM):c.2264G>A (p.Cys755Tyr) rs876660916
NM_000051.3(ATM):c.2264G>T (p.Cys755Phe) rs876660916
NM_000051.3(ATM):c.2269G>A (p.Gly757Arg) rs587779819
NM_000051.3(ATM):c.2275A>G (p.Ser759Gly) rs148705269
NM_000051.3(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.3(ATM):c.2278A>G (p.Ile760Val) rs1555075672
NM_000051.3(ATM):c.2281A>G (p.Thr761Ala) rs2235011
NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) rs2235011
NM_000051.3(ATM):c.2284C>G (p.Leu762Val) rs876659401
NM_000051.3(ATM):c.2296A>G (p.Lys766Glu) rs748125666
NM_000051.3(ATM):c.229A>G (p.Ile77Val) rs1064796032
NM_000051.3(ATM):c.2306A>G (p.Glu769Gly) rs1377126475
NM_000051.3(ATM):c.2317A>C (p.Ile773Leu) rs876659084
NM_000051.3(ATM):c.2321G>A (p.Gly774Asp) rs1555075727
NM_000051.3(ATM):c.232G>A (p.Ala78Thr) rs878853493
NM_000051.3(ATM):c.2330G>A (p.Arg777Lys) rs876660432
NM_000051.3(ATM):c.2333A>G (p.Asn778Ser) rs587779820
NM_000051.3(ATM):c.2335_2337ATG[1] (p.Met780del) rs1555075763
NM_000051.3(ATM):c.2336T>C (p.Met779Thr) rs587778066
NM_000051.3(ATM):c.2338A>G (p.Met780Val) rs587781446
NM_000051.3(ATM):c.2338A>T (p.Met780Leu) rs587781446
NM_000051.3(ATM):c.233C>G (p.Ala78Gly) rs876659669
NM_000051.3(ATM):c.2353C>T (p.Arg785Cys) rs587778065
NM_000051.3(ATM):c.2354G>A (p.Arg785His) rs587782128
NM_000051.3(ATM):c.2368T>C (p.Cys790Arg) rs1555075810
NM_000051.3(ATM):c.2369G>C (p.Cys790Ser) rs764538548
NM_000051.3(ATM):c.2371A>G (p.Thr791Ala) rs1555075814
NM_000051.3(ATM):c.2374A>G (p.Lys792Glu) rs1423446897
NM_000051.3(ATM):c.2376+3A>G rs758083563
NM_000051.3(ATM):c.2377-5T>C rs754206007
NM_000051.3(ATM):c.2377A>G (p.Lys793Glu) rs587781583
NM_000051.3(ATM):c.2380A>C (p.Ser794Arg) rs876658149
NM_000051.3(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.3(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
NM_000051.3(ATM):c.2387A>T (p.Asn796Ile) rs1555076612
NM_000051.3(ATM):c.238C>T (p.Pro80Ser) rs750597831
NM_000051.3(ATM):c.239C>T (p.Pro80Leu) rs876659996
NM_000051.3(ATM):c.23T>G (p.Leu8Arg) rs1555053885
NM_000051.3(ATM):c.2414G>A (p.Arg805Gln) rs587782255
NM_000051.3(ATM):c.2418G>T (p.Leu806Phe) rs587781296
NM_000051.3(ATM):c.241A>G (p.Asn81Asp) rs758962678
NM_000051.3(ATM):c.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.2436G>A (p.Met812Ile) rs876658688
NM_000051.3(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.2450A>G (p.Asp817Gly) rs587779821
NM_000051.3(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.2462G>C (p.Ser821Thr) rs1555076748
NM_000051.3(ATM):c.2466+4A>C rs563482577
NM_000051.3(ATM):c.2466+4A>G rs563482577
NM_000051.3(ATM):c.2466A>G (p.Leu822=) rs747108452
NM_000051.3(ATM):c.2467G>T (p.Ala823Ser) rs786202895
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2480A>G (p.Lys827Arg) rs372230498
NM_000051.3(ATM):c.2492A>G (p.Asp831Gly) rs587781352
NM_000051.3(ATM):c.2492A>T (p.Asp831Val) rs587781352
NM_000051.3(ATM):c.2495G>A (p.Arg832His) rs199875915
NM_000051.3(ATM):c.2495G>C (p.Arg832Pro) rs199875915
NM_000051.3(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.3(ATM):c.2501A>T (p.Glu834Val) rs730881349
NM_000051.3(ATM):c.2503G>T (p.Val835Leu) rs757151992
NM_000051.3(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.3(ATM):c.2519A>G (p.Asp840Gly) rs786202605
NM_000051.3(ATM):c.2519A>T (p.Asp840Val) rs786202605
NM_000051.3(ATM):c.251C>T (p.Ala84Val) rs587781937
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2522A>G (p.Asp841Gly) rs587781812
NM_000051.3(ATM):c.2525C>G (p.Thr842Ser) rs1555082164
NM_000051.3(ATM):c.2530_2535del (p.Gly844_Asn845del) rs956305036
NM_000051.3(ATM):c.2531G>C (p.Gly844Ala) rs587781808
NM_000051.3(ATM):c.2536C>G (p.Leu846Val) rs1555082186
NM_000051.3(ATM):c.2539A>T (p.Met847Leu) rs587779823
NM_000051.3(ATM):c.2549A>G (p.Glu850Gly) rs876660456
NM_000051.3(ATM):c.2551G>A (p.Asp851Asn) rs1555082218
NM_000051.3(ATM):c.2552A>G (p.Asp851Gly) rs748203812
NM_000051.3(ATM):c.2553T>G (p.Asp851Glu) rs1064793513
NM_000051.3(ATM):c.2555A>C (p.Gln852Pro) rs1265258461
NM_000051.3(ATM):c.2557T>C (p.Ser853Pro) rs876658913
NM_000051.3(ATM):c.2561C>A (p.Ser854Tyr) rs778123895
NM_000051.3(ATM):c.2561C>G (p.Ser854Cys) rs778123895
NM_000051.3(ATM):c.2564T>C (p.Met855Thr) rs587779824
NM_000051.3(ATM):c.2569C>G (p.Leu857Val) rs876659486
NM_000051.3(ATM):c.2579A>G (p.Asp860Gly) rs761251711
NM_000051.3(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.3(ATM):c.2584C>A (p.Pro862Thr) rs876660537
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.2606C>G (p.Ala869Gly) rs145513717
NM_000051.3(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.3(ATM):c.2615C>T (p.Pro872Leu) rs786202977
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.2647A>G (p.Asn883Asp) rs587782382
NM_000051.3(ATM):c.2649T>G (p.Asn883Lys) rs1555083093
NM_000051.3(ATM):c.2655A>T (p.Leu885Phe) rs730881351
NM_000051.3(ATM):c.266C>T (p.Ser89Phe) rs375605135
NM_000051.3(ATM):c.2678A>G (p.Gln893Arg) rs876659776
NM_000051.3(ATM):c.2679A>T (p.Gln893His) rs139316519
NM_000051.3(ATM):c.2681A>T (p.Asp894Val) rs113482790
NM_000051.3(ATM):c.2689T>A (p.Phe897Ile) rs147122522
NM_000051.3(ATM):c.2690T>C (p.Phe897Ser) rs876658373
NM_000051.3(ATM):c.2694A>T (p.Leu898Phe) rs774395596
NM_000051.3(ATM):c.2698A>G (p.Met900Val) rs138468963
NM_000051.3(ATM):c.2699T>C (p.Met900Thr) rs863224558
NM_000051.3(ATM):c.2720G>T (p.Cys907Phe) rs775371838
NM_000051.3(ATM):c.2722G>A (p.Val908Ile) rs1190648236
NM_000051.3(ATM):c.2725A>T (p.Thr909Ser) rs786203175
NM_000051.3(ATM):c.2728A>G (p.Thr910Ala) rs1265391373
NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.3(ATM):c.2743A>G (p.Thr915Ala) rs786203106
NM_000051.3(ATM):c.2744C>A (p.Thr915Asn) rs876660912
NM_000051.3(ATM):c.275A>C (p.Lys92Thr) rs200151849
NM_000051.3(ATM):c.2764G>C (p.Asp922His) rs786201670
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.2781G>T (p.Leu927Phe) rs770565353
NM_000051.3(ATM):c.2786T>C (p.Met929Thr) rs745737218
NM_000051.3(ATM):c.2802C>G (p.Ser934Arg) rs876659788
NM_000051.3(ATM):c.2803A>G (p.Thr935Ala) rs35813135
NM_000051.3(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.3(ATM):c.280A>G (p.Met94Val) rs864622758
NM_000051.3(ATM):c.2812C>G (p.Pro938Ala) rs1415567368
NM_000051.3(ATM):c.2815A>G (p.Thr939Ala) rs864622606
NM_000051.3(ATM):c.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+4A>G rs876659907
NM_000051.3(ATM):c.2839-4T>C rs1057522619
NM_000051.3(ATM):c.2839-5C>A rs876660205
NM_000051.3(ATM):c.283C>A (p.Gln95Lys) rs587781545
NM_000051.3(ATM):c.2840A>G (p.Tyr947Cys) rs587779827
NM_000051.3(ATM):c.2848C>T (p.Leu950Phe) rs763064034
NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) rs587778069
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.28A>G (p.Ile10Val) rs876660671
NM_000051.3(ATM):c.2909T>A (p.Leu970Gln) rs587782521
NM_000051.3(ATM):c.290T>C (p.Ile97Thr) rs786203011
NM_000051.3(ATM):c.2912A>T (p.Lys971Ile) rs587781855
NM_000051.3(ATM):c.2918T>C (p.Leu973Pro) rs1555084757
NM_000051.3(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.3(ATM):c.2921C>T (p.Ser974Phe) rs538105098
NM_000051.3(ATM):c.2922-4A>G rs1555084924
NM_000051.3(ATM):c.2922-5C>T rs1452462211
NM_000051.3(ATM):c.2924A>G (p.Asn975Ser) rs730881354
NM_000051.3(ATM):c.2925T>A (p.Asn975Lys) rs765848319
NM_000051.3(ATM):c.2930G>A (p.Cys977Tyr) rs876660628
NM_000051.3(ATM):c.2937G>C (p.Leu979Phe) rs1166904824
NM_000051.3(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.3(ATM):c.2941C>T (p.Arg981Cys) rs587780619
NM_000051.3(ATM):c.2942G>A (p.Arg981His) rs755896387
NM_000051.3(ATM):c.2944C>T (p.Arg982Cys) rs587779830
NM_000051.3(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.3(ATM):c.2947G>A (p.Asp983Asn) rs1060501560
NM_000051.3(ATM):c.2954A>G (p.Asp985Gly) rs864622159
NM_000051.3(ATM):c.2954A>T (p.Asp985Val) rs864622159
NM_000051.3(ATM):c.2957T>C (p.Val986Ala) rs373225328
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.2972T>C (p.Leu991Ser) rs1227701474
NM_000051.3(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.3(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.3(ATM):c.2990T>C (p.Val997Ala) rs1555085101
NM_000051.3(ATM):c.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.3031A>C (p.Thr1011Pro) rs959314809
NM_000051.3(ATM):c.3031A>G (p.Thr1011Ala) rs959314809
NM_000051.3(ATM):c.3032C>T (p.Thr1011Ile) rs1387785337
NM_000051.3(ATM):c.3040G>A (p.Ala1014Thr) rs587782163
NM_000051.3(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.3(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.3(ATM):c.3062T>G (p.Val1021Gly) rs786202399
NM_000051.3(ATM):c.3064A>G (p.Ile1022Val) rs786202470
NM_000051.3(ATM):c.3071C>T (p.Ala1024Val) rs746133264
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.3(ATM):c.3080A>C (p.His1027Pro) rs786204217
NM_000051.3(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.3(ATM):c.3092A>G (p.Glu1031Gly) rs758708495
NM_000051.3(ATM):c.3106T>C (p.Phe1036Leu) rs747079458
NM_000051.3(ATM):c.310T>C (p.Phe104Leu) rs1555055306
NM_000051.3(ATM):c.3112G>C (p.Val1038Leu) rs876659877
NM_000051.3(ATM):c.3113T>A (p.Val1038Glu) rs1555085827
NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.3(ATM):c.3139A>G (p.Lys1047Glu) rs587778071
NM_000051.3(ATM):c.3147G>T (p.Leu1049Phe) rs1060501686
NM_000051.3(ATM):c.3152A>G (p.Glu1051Gly) rs876659217
NM_000051.3(ATM):c.3154-4G>T rs199543313
NM_000051.3(ATM):c.3154-5C>T rs55719759
NM_000051.3(ATM):c.3155C>T (p.Ala1052Val) rs876660350
NM_000051.3(ATM):c.3157G>C (p.Asp1053His) rs876660172
NM_000051.3(ATM):c.3172T>A (p.Trp1058Arg) rs1555085992
NM_000051.3(ATM):c.3174G>C (p.Trp1058Cys) rs1064796080
NM_000051.3(ATM):c.3175G>A (p.Ala1059Thr) rs370282831
NM_000051.3(ATM):c.3176C>T (p.Ala1059Val) rs761590782
NM_000051.3(ATM):c.3190A>G (p.Met1064Val) rs79431304
NM_000051.3(ATM):c.3196A>C (p.Lys1066Gln) rs1555086041
NM_000051.3(ATM):c.3208G>T (p.Val1070Leu) rs587780620
NM_000051.3(ATM):c.3212A>G (p.Asn1071Ser) rs755237639
NM_000051.3(ATM):c.3229T>G (p.Phe1077Val) rs1555086111
NM_000051.3(ATM):c.3236C>G (p.Ala1079Gly) rs778233602
NM_000051.3(ATM):c.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.3256C>T (p.Arg1086Cys) rs201780199
NM_000051.3(ATM):c.3257G>A (p.Arg1086His) rs769857066
NM_000051.3(ATM):c.3265G>T (p.Ala1089Ser) rs730881358
NM_000051.3(ATM):c.3277A>G (p.Ile1093Val) rs876659667
NM_000051.3(ATM):c.3281A>G (p.Asn1094Ser) rs199883473
NM_000051.3(ATM):c.3285-5T>C rs876659715
NM_000051.3(ATM):c.3291C>G (p.Phe1097Leu) rs876658491
NM_000051.3(ATM):c.3292C>G (p.Gln1098Glu) rs773964990
NM_000051.3(ATM):c.3295G>A (p.Asp1099Asn) rs372966951
NM_000051.3(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951
NM_000051.3(ATM):c.3307G>C (p.Asp1103His) rs1555090114
NM_000051.3(ATM):c.3308A>G (p.Asp1103Gly) rs1555090118
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.3331C>G (p.Leu1111Val) rs587779832
NM_000051.3(ATM):c.3332T>C (p.Leu1111Pro) rs876658363
NM_000051.3(ATM):c.3334C>G (p.Pro1112Ala) rs876658963
NM_000051.3(ATM):c.3334C>T (p.Pro1112Ser) rs876658963
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3355G>T (p.Ala1119Ser) rs786201956
NM_000051.3(ATM):c.3356C>A (p.Ala1119Asp) rs778882461
NM_000051.3(ATM):c.3356C>T (p.Ala1119Val) rs778882461
NM_000051.3(ATM):c.3362A>G (p.Glu1121Gly) rs876660607
NM_000051.3(ATM):c.3365A>G (p.Asn1122Ser) rs745863765
NM_000051.3(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498
NM_000051.3(ATM):c.337C>T (p.Pro113Ser) rs1060501678
NM_000051.3(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.3(ATM):c.3385G>A (p.Glu1129Lys) rs876658463
NM_000051.3(ATM):c.338C>T (p.Pro113Leu) rs876658324
NM_000051.3(ATM):c.3399A>C (p.Glu1133Asp) rs1555090364
NM_000051.3(ATM):c.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.3410G>A (p.Ser1137Asn) rs876659633
NM_000051.3(ATM):c.3415G>C (p.Glu1139Gln) rs786203048
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.3449G>C (p.Arg1150Thr) rs555219189
NM_000051.3(ATM):c.344T>G (p.Leu115Arg) rs876659791
NM_000051.3(ATM):c.3473T>C (p.Ile1158Thr) rs1060501588
NM_000051.3(ATM):c.3478G>C (p.Val1160Leu) rs567344545
NM_000051.3(ATM):c.3502T>C (p.Cys1168Arg) rs749933079
NM_000051.3(ATM):c.3505G>A (p.Glu1169Lys) rs200765255
NM_000051.3(ATM):c.3508A>G (p.Lys1170Glu) rs1555091295
NM_000051.3(ATM):c.350G>A (p.Cys117Tyr) rs1555059066
NM_000051.3(ATM):c.3512A>C (p.Gln1171Pro) rs1555091325
NM_000051.3(ATM):c.3514G>C (p.Ala1172Pro) rs779946941
NM_000051.3(ATM):c.3520T>G (p.Phe1174Val) rs547400704
NM_000051.3(ATM):c.3521T>C (p.Phe1174Ser) rs1416574870
NM_000051.3(ATM):c.3527T>G (p.Leu1176Arg) rs587782762
NM_000051.3(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.3(ATM):c.3532A>G (p.Lys1178Glu) rs1555091359
NM_000051.3(ATM):c.3544G>C (p.Glu1182Gln) rs377349886
NM_000051.3(ATM):c.3545A>T (p.Glu1182Val) rs1555091393
NM_000051.3(ATM):c.3550G>A (p.Gly1184Arg) rs1555091402
NM_000051.3(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.3(ATM):c.3558A>T (p.Glu1186Asp) rs12786957
NM_000051.3(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.3(ATM):c.3568G>C (p.Val1190Leu) rs876660708
NM_000051.3(ATM):c.3577-3C>A rs876659700
NM_000051.3(ATM):c.3577-5T>C rs1555092229
NM_000051.3(ATM):c.3577G>A (p.Val1193Ile) rs779148780
NM_000051.3(ATM):c.3584A>G (p.Glu1195Gly) rs1167713135
NM_000051.3(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.3(ATM):c.3601T>A (p.Phe1201Ile) rs576884305
NM_000051.3(ATM):c.3605G>C (p.Gly1202Ala) rs1555092285
NM_000051.3(ATM):c.3611G>A (p.Arg1204Lys) rs786203066
NM_000051.3(ATM):c.361T>A (p.Leu121Ile) rs587782178
NM_000051.3(ATM):c.3625T>A (p.Phe1209Ile) rs1555092334
NM_000051.3(ATM):c.3628A>G (p.Met1210Val) rs138212452
NM_000051.3(ATM):c.3630G>A (p.Met1210Ile) rs587778073
NM_000051.3(ATM):c.3630_3631delinsTT (p.Met1210_Ala1211delinsIleSer) rs1555092353
NM_000051.3(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.3(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis) rs1064795822
NM_000051.3(ATM):c.3676G>C (p.Asp1226His) rs370974808
NM_000051.3(ATM):c.3677A>T (p.Asp1226Val) rs1555092445
NM_000051.3(ATM):c.3680C>A (p.Thr1227Asn) rs1229454563
NM_000051.3(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389
NM_000051.3(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.3(ATM):c.3702T>G (p.Phe1234Leu) rs876659605
NM_000051.3(ATM):c.3703C>T (p.Pro1235Ser) rs779095853
NM_000051.3(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.3(ATM):c.3721_3723del (p.Tyr1241del) rs1555092538
NM_000051.3(ATM):c.3722A>T (p.Tyr1241Phe) rs587782688
NM_000051.3(ATM):c.3725C>G (p.Thr1242Arg) rs1266811647
NM_000051.3(ATM):c.3728A>G (p.Asn1243Ser) rs730881363
NM_000051.3(ATM):c.373A>G (p.Met125Val) rs761137313
NM_000051.3(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370
NM_000051.3(ATM):c.3746+5G>A rs876658419
NM_000051.3(ATM):c.3748T>A (p.Ser1250Thr) rs1555093268
NM_000051.3(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.3(ATM):c.3773A>G (p.His1258Arg) rs1555093334
NM_000051.3(ATM):c.3774T>A (p.His1258Gln) rs786203114
NM_000051.3(ATM):c.3778G>A (p.Val1260Met) rs587782035
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.3793T>C (p.Phe1265Leu) rs371526361
NM_000051.3(ATM):c.3793T>G (p.Phe1265Val) rs371526361
NM_000051.3(ATM):c.379A>G (p.Thr127Ala) rs587781741
NM_000051.3(ATM):c.379A>T (p.Thr127Ser) rs587781741
NM_000051.3(ATM):c.37C>T (p.Arg13Cys) rs141586345
NM_000051.3(ATM):c.3802G>A (p.Val1268Met) rs863224564
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.3812T>G (p.Ile1271Ser) rs1308232635
NM_000051.3(ATM):c.3817A>G (p.Asn1273Asp) rs876660767
NM_000051.3(ATM):c.382G>A (p.Val128Met) rs587779835
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.3842G>A (p.Ser1281Asn) rs1064797161
NM_000051.3(ATM):c.3843T>G (p.Ser1281Arg) rs863224565
NM_000051.3(ATM):c.3844C>A (p.Leu1282Ile) rs876660568
NM_000051.3(ATM):c.3857G>T (p.Cys1286Phe) rs876660770
NM_000051.3(ATM):c.3866A>G (p.Lys1289Arg) rs876660633
NM_000051.3(ATM):c.3872T>G (p.Leu1291Arg) rs1555093536
NM_000051.3(ATM):c.3875T>C (p.Val1292Ala) rs1555093556
NM_000051.3(ATM):c.3880A>T (p.Ile1294Phe) rs1478504213
NM_000051.3(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.3(ATM):c.3886_3888delinsACA (p.Pro1296Thr) rs876660859
NM_000051.3(ATM):c.3896C>T (p.Ala1299Val) rs786203287
NM_000051.3(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185
NM_000051.3(ATM):c.389A>G (p.Asp130Gly) rs766034066
NM_000051.3(ATM):c.38G>A (p.Arg13His) rs778201041
NM_000051.3(ATM):c.38G>T (p.Arg13Leu) rs778201041
NM_000051.3(ATM):c.391T>C (p.Ser131Pro) rs876658263
NM_000051.3(ATM):c.3923T>C (p.Met1308Thr) rs1555093651
NM_000051.3(ATM):c.3937G>C (p.Glu1313Gln) rs3092841
NM_000051.3(ATM):c.3941C>T (p.Thr1314Ile) rs751678973
NM_000051.3(ATM):c.3946A>G (p.Thr1316Ala) rs1555093708
NM_000051.3(ATM):c.394T>C (p.Ser132Pro) rs786203851
NM_000051.3(ATM):c.3952G>T (p.Val1318Phe) rs587778074
NM_000051.3(ATM):c.3956A>G (p.Tyr1319Cys) rs1424433891
NM_000051.3(ATM):c.395C>T (p.Ser132Phe) rs750969764
NM_000051.3(ATM):c.3961A>G (p.Met1321Val) rs730881366
NM_000051.3(ATM):c.3962T>C (p.Met1321Thr) rs928038643
NM_000051.3(ATM):c.3965T>A (p.Leu1322His) rs786203306
NM_000051.3(ATM):c.3978C>A (p.Asn1326Lys) rs778123057
NM_000051.3(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.3(ATM):c.3992A>G (p.Gln1331Arg) rs876658669
NM_000051.3(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.3(ATM):c.3996T>G (p.Ile1332Met) rs1180449859
NM_000051.3(ATM):c.3998A>T (p.Asp1333Val) rs746709782
NM_000051.3(ATM):c.399T>A (p.Asn133Lys) rs1555059218
NM_000051.3(ATM):c.4001A>G (p.His1334Arg) rs780865776
NM_000051.3(ATM):c.400G>A (p.Gly134Ser) rs2234998
NM_000051.3(ATM):c.401G>A (p.Gly134Asp) rs771166271
NM_000051.3(ATM):c.4049C>T (p.Thr1350Met) rs587781785
NM_000051.3(ATM):c.4055A>G (p.His1352Arg) rs925124248
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4070C>A (p.Ser1357Tyr) rs730881390
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.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.3(ATM):c.4091A>G (p.Asp1364Gly) rs751169467
NM_000051.3(ATM):c.4092C>A (p.Asp1364Glu) rs876660956
NM_000051.3(ATM):c.4109+4T>C rs754706599
NM_000051.3(ATM):c.410A>T (p.Tyr137Phe) rs547082881
NM_000051.3(ATM):c.4110-4T>C rs777186156
NM_000051.3(ATM):c.4120C>T (p.Pro1374Ser) rs749215545
NM_000051.3(ATM):c.4127C>G (p.Pro1376Arg) rs786202406
NM_000051.3(ATM):c.4133C>T (p.Pro1378Leu) rs750771205
NM_000051.3(ATM):c.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.3(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.3(ATM):c.4150C>A (p.His1384Asn) rs876660576
NM_000051.3(ATM):c.4151A>C (p.His1384Pro) rs757172522
NM_000051.3(ATM):c.4151A>G (p.His1384Arg) rs757172522
NM_000051.3(ATM):c.4153G>T (p.Val1385Leu) rs1064794484
NM_000051.3(ATM):c.4175A>G (p.Tyr1392Cys) rs876658239
NM_000051.3(ATM):c.4195A>G (p.Thr1399Ala) rs1555096955
NM_000051.3(ATM):c.4196C>A (p.Thr1399Asn) rs786203761
NM_000051.3(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.3(ATM):c.4201T>A (p.Leu1401Ile) rs587779838
NM_000051.3(ATM):c.4210A>G (p.Ile1404Val) rs786201832
NM_000051.3(ATM):c.4235C>T (p.Pro1412Leu) rs776581499
NM_000051.3(ATM):c.4237G>A (p.Asp1413Asn) rs1337392659
NM_000051.3(ATM):c.4237G>T (p.Asp1413Tyr) rs1337392659
NM_000051.3(ATM):c.4241C>G (p.Ser1414Cys) rs876659292
NM_000051.3(ATM):c.4244A>G (p.Tyr1415Cys) rs876660540
NM_000051.3(ATM):c.4247A>G (p.Gln1416Arg) rs758180727
NM_000051.3(ATM):c.4255_4257CTT[1] (p.Leu1420del) rs876659842
NM_000051.3(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.425G>A (p.Ser142Asn) rs755618506
NM_000051.3(ATM):c.4265T>C (p.Ile1422Thr) rs876659764
NM_000051.3(ATM):c.4267T>A (p.Cys1423Ser) rs587782442
NM_000051.3(ATM):c.4267T>C (p.Cys1423Arg) rs587782442
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.427A>G (p.Asn143Asp) rs587781688
NM_000051.3(ATM):c.4284A>C (p.Glu1428Asp) rs1555097441
NM_000051.3(ATM):c.4289A>G (p.Asn1430Ser) rs876658870
NM_000051.3(ATM):c.4295T>G (p.Val1432Gly) rs1131691150
NM_000051.3(ATM):c.4297T>G (p.Tyr1433Asp) rs876659559
NM_000051.3(ATM):c.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.4329C>A (p.His1443Gln) rs377065665
NM_000051.3(ATM):c.4333T>C (p.Phe1445Leu) rs1060501683
NM_000051.3(ATM):c.433C>A (p.Leu145Ile) rs587782328
NM_000051.3(ATM):c.4347A>C (p.Leu1449Phe) rs764787081
NM_000051.3(ATM):c.4354G>C (p.Asp1452His) rs1012695949
NM_000051.3(ATM):c.4358T>G (p.Ile1453Arg) rs587782126
NM_000051.3(ATM):c.4361A>G (p.Lys1454Arg) rs1451928082
NM_000051.3(ATM):c.4365T>A (p.Ser1455Arg) rs527471560
NM_000051.3(ATM):c.4375G>A (p.Gly1459Arg) rs145667735
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.439A>G (p.Lys147Glu) rs587782509
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.4420C>A (p.His1474Asn) rs587779840
NM_000051.3(ATM):c.4420C>G (p.His1474Asp) rs587779840
NM_000051.3(ATM):c.4428C>G (p.Ile1476Met) rs876659370
NM_000051.3(ATM):c.4431C>A (p.Asn1477Lys) rs571989748
NM_000051.3(ATM):c.4437-5A>G rs876658290
NM_000051.3(ATM):c.4439_4441CTT[1] (p.Ser1481del) rs786202338
NM_000051.3(ATM):c.4442C>T (p.Ser1481Phe) rs863224572
NM_000051.3(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352
NM_000051.3(ATM):c.4445G>C (p.Cys1482Ser) rs201277352
NM_000051.3(ATM):c.4451T>C (p.Met1484Thr) rs786203785
NM_000051.3(ATM):c.4454A>G (p.Asp1485Gly) rs1555099762
NM_000051.3(ATM):c.4456G>C (p.Val1486Leu) rs786203352
NM_000051.3(ATM):c.4456G>T (p.Val1486Leu) rs786203352
NM_000051.3(ATM):c.4465C>T (p.Arg1489Cys) rs754181173
NM_000051.3(ATM):c.4466G>A (p.Arg1489His) rs201594549
NM_000051.3(ATM):c.4468A>G (p.Ser1490Gly) rs876658711
NM_000051.3(ATM):c.446T>A (p.Ile149Asn) rs587782353
NM_000051.3(ATM):c.4471T>C (p.Phe1491Leu) rs587781944
NM_000051.3(ATM):c.4477C>T (p.Leu1493Phe) rs377595814
NM_000051.3(ATM):c.4480T>C (p.Cys1494Arg) rs1060501576
NM_000051.3(ATM):c.448C>G (p.Leu150Val) rs1555059404
NM_000051.3(ATM):c.4493T>C (p.Leu1498Ser) rs1329359780
NM_000051.3(ATM):c.4496G>C (p.Ser1499Thr) rs1222314846
NM_000051.3(ATM):c.4499A>G (p.Gln1500Arg) rs786203789
NM_000051.3(ATM):c.4501G>T (p.Val1501Phe) rs370574283
NM_000051.3(ATM):c.4505G>T (p.Cys1502Phe) rs759340881
NM_000051.3(ATM):c.4529A>G (p.Lys1510Arg) rs1208799683
NM_000051.3(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.3(ATM):c.4549C>T (p.Leu1517Phe) rs754058482
NM_000051.3(ATM):c.4553A>C (p.His1518Pro) rs762132832
NM_000051.3(ATM):c.4559T>C (p.Ile1520Thr) rs375654664
NM_000051.3(ATM):c.4561G>C (p.Val1521Leu) rs141329176
NM_000051.3(ATM):c.4562T>C (p.Val1521Ala) rs786202673
NM_000051.3(ATM):c.4564G>A (p.Gly1522Ser) rs1064795495
NM_000051.3(ATM):c.4570C>G (p.Leu1524Val) rs780603110
NM_000051.3(ATM):c.4570C>T (p.Leu1524Phe) rs780603110
NM_000051.3(ATM):c.4574T>C (p.Ile1525Thr) rs755274980
NM_000051.3(ATM):c.4577C>A (p.Pro1526His) rs770590652
NM_000051.3(ATM):c.4579C>G (p.Leu1527Val) rs1555099997
NM_000051.3(ATM):c.4612-4T>G rs569983068
NM_000051.3(ATM):c.4623G>T (p.Leu1541Phe) rs3092849
NM_000051.3(ATM):c.4630T>C (p.Tyr1544His) rs771554153
NM_000051.3(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362
NM_000051.3(ATM):c.4639A>G (p.Ile1547Val) rs537377433
NM_000051.3(ATM):c.463T>G (p.Tyr155Asp) rs1555059450
NM_000051.3(ATM):c.4640T>C (p.Ile1547Thr) rs1555100432
NM_000051.3(ATM):c.4648A>G (p.Lys1550Glu) rs1555100449
NM_000051.3(ATM):c.4650G>T (p.Lys1550Asn) rs876660003
NM_000051.3(ATM):c.4652A>G (p.Asp1551Gly) rs1555100455
NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) rs587778075
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.467G>C (p.Trp156Ser) rs876658159
NM_000051.3(ATM):c.4687G>A (p.Asp1563Asn) rs1464587365
NM_000051.3(ATM):c.4699G>A (p.Asp1567Asn) rs876659069
NM_000051.3(ATM):c.469T>G (p.Cys157Gly) rs1248850168
NM_000051.3(ATM):c.4702C>T (p.His1568Tyr) rs753269143
NM_000051.3(ATM):c.4703A>G (p.His1568Arg) rs368830730
NM_000051.3(ATM):c.4706T>A (p.Val1569Asp) rs1555100549
NM_000051.3(ATM):c.4716G>C (p.Lys1572Asn) rs786203953
NM_000051.3(ATM):c.4724G>A (p.Arg1575His) rs550552791
NM_000051.3(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.3(ATM):c.4759C>G (p.Pro1587Ala) rs786202473
NM_000051.3(ATM):c.4768C>T (p.Leu1590Phe) rs35962982
NM_000051.3(ATM):c.4773G>C (p.Leu1591Phe) rs1345760669
NM_000051.3(ATM):c.4776G>C (p.Glu1592Asp) rs786202973
NM_000051.3(ATM):c.4777-3T>C rs1468242174
NM_000051.3(ATM):c.4777-4T>C rs756025941
NM_000051.3(ATM):c.477A>G (p.Ile159Met) rs786202644
NM_000051.3(ATM):c.4780A>G (p.Ile1594Val) rs1555101615
NM_000051.3(ATM):c.4781T>C (p.Ile1594Thr) rs1555101621
NM_000051.3(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.3(ATM):c.4786C>G (p.His1596Asp) rs1555101635
NM_000051.3(ATM):c.4792C>A (p.Leu1598Ile) rs375190373
NM_000051.3(ATM):c.479C>T (p.Ser160Phe) rs35858242
NM_000051.3(ATM):c.4801A>G (p.Ser1601Gly) rs876660520
NM_000051.3(ATM):c.4807T>C (p.Tyr1603His) rs994121421
NM_000051.3(ATM):c.4814C>T (p.Ala1605Val) rs786203520
NM_000051.3(ATM):c.4817T>G (p.Leu1606Arg) rs1555101727
NM_000051.3(ATM):c.4819C>A (p.Pro1607Thr) rs1178015475
NM_000051.3(ATM):c.4825A>G (p.Thr1609Ala) rs761197886
NM_000051.3(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.3(ATM):c.4845G>T (p.Lys1615Asn) rs888498126
NM_000051.3(ATM):c.4853G>A (p.Arg1618Gln) rs765759912
NM_000051.3(ATM):c.4853G>T (p.Arg1618Leu) rs765759912
NM_000051.3(ATM):c.4855A>G (p.Arg1619Gly) rs1555101835
NM_000051.3(ATM):c.4856G>A (p.Arg1619Lys) rs730881393
NM_000051.3(ATM):c.4865A>G (p.Glu1622Gly) rs1555101872
NM_000051.3(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.3(ATM):c.4871A>G (p.His1624Arg) rs56354559
NM_000051.3(ATM):c.4880A>T (p.Gln1627Leu) rs786203857
NM_000051.3(ATM):c.4885G>C (p.Val1629Leu) rs876660748
NM_000051.3(ATM):c.4888G>A (p.Asp1630Asn) rs1555101921
NM_000051.3(ATM):c.488A>G (p.Gln163Arg) rs876660598
NM_000051.3(ATM):c.4892T>G (p.Ile1631Ser) rs1060501674
NM_000051.3(ATM):c.4896G>A (p.Met1632Ile) rs933030670
NM_000051.3(ATM):c.4898G>T (p.Arg1633Ile) rs1555101943
NM_000051.3(ATM):c.4909+3G>A rs778685122
NM_000051.3(ATM):c.4909+4C>T rs587782125
NM_000051.3(ATM):c.4909G>T (p.Asp1637Tyr) rs753870656
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.4910-5T>C rs1309478967
NM_000051.3(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.3(ATM):c.4916C>T (p.Pro1639Leu) rs752459491
NM_000051.3(ATM):c.4919A>C (p.Gln1640Pro) rs1555103190
NM_000051.3(ATM):c.4921G>C (p.Asp1641His) rs587782896
NM_000051.3(ATM):c.4928T>A (p.Ile1643Asn) rs1555103201
NM_000051.3(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.3(ATM):c.4949A>C (p.Asn1650Thr) rs55870064
NM_000051.3(ATM):c.4952T>C (p.Leu1651Ser) rs1555103237
NM_000051.3(ATM):c.496+3A>G rs876658311
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.496+4T>G rs587781375
NM_000051.3(ATM):c.4961T>C (p.Leu1654Ser) rs587781679
NM_000051.3(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215
NM_000051.3(ATM):c.497-3A>T rs1046559213
NM_000051.3(ATM):c.497-4T>A rs876659621
NM_000051.3(ATM):c.4970T>A (p.Met1657Lys) rs1555103260
NM_000051.3(ATM):c.4982A>G (p.His1661Arg) rs1555103285
NM_000051.3(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.3(ATM):c.4990G>A (p.Glu1664Lys) rs1555103301
NM_000051.3(ATM):c.4994_4996AAG[1] (p.Glu1666del) rs876660918
NM_000051.3(ATM):c.49C>A (p.His17Asn) rs876658161
NM_000051.3(ATM):c.5006-5T>A rs1555104475
NM_000051.3(ATM):c.5009C>T (p.Ala1670Val) rs375131360
NM_000051.3(ATM):c.5036G>A (p.Gly1679Asp) rs1064794124
NM_000051.3(ATM):c.5039C>T (p.Pro1680Leu) rs587782153
NM_000051.3(ATM):c.5042T>C (p.Ile1681Thr) rs1307715383
NM_000051.3(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.3(ATM):c.5056A>G (p.Ile1686Val) rs145453814
NM_000051.3(ATM):c.5059G>T (p.Ala1687Ser) rs1555104597
NM_000051.3(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.3(ATM):c.5063T>C (p.Ile1688Thr) rs199836342
NM_000051.3(ATM):c.5069A>G (p.His1690Arg) rs863224574
NM_000051.3(ATM):c.5076A>C (p.Lys1692Asn) rs767841041
NM_000051.3(ATM):c.5081C>G (p.Ala1694Gly) rs587782551
NM_000051.3(ATM):c.5087A>G (p.Tyr1696Cys) rs1555104673
NM_000051.3(ATM):c.5089A>G (p.Thr1697Ala) rs142455912
NM_000051.3(ATM):c.508G>T (p.Val170Leu) rs786202781
NM_000051.3(ATM):c.5101A>G (p.Lys1701Glu) rs746220021
NM_000051.3(ATM):c.5122C>T (p.Leu1708Phe) rs1555104730
NM_000051.3(ATM):c.5125C>A (p.Gln1709Lys) rs1341457041
NM_000051.3(ATM):c.5130G>T (p.Trp1710Cys) rs780816003
NM_000051.3(ATM):c.514T>C (p.Phe172Leu) rs786201608
NM_000051.3(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.3(ATM):c.5162C>T (p.Thr1721Ile) rs786203910
NM_000051.3(ATM):c.5168T>C (p.Val1723Ala) rs915337829
NM_000051.3(ATM):c.5178-3C>G rs876658558
NM_000051.3(ATM):c.5178-4dup rs747750958
NM_000051.3(ATM):c.5183A>G (p.Lys1728Arg) rs1060501613
NM_000051.3(ATM):c.5186T>C (p.Val1729Ala) rs1179068103
NM_000051.3(ATM):c.5188C>G (p.Arg1730Gly) rs764389018
NM_000051.3(ATM):c.5189G>A (p.Arg1730Gln) rs373789346
NM_000051.3(ATM):c.518G>T (p.Arg173Met) rs372694758
NM_000051.3(ATM):c.519G>T (p.Arg173Ser) rs587781391
NM_000051.3(ATM):c.5228C>G (p.Thr1743Arg) 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.5242A>C (p.Ser1748Arg) rs876658175
NM_000051.3(ATM):c.5250G>T (p.Trp1750Cys) rs587779845
NM_000051.3(ATM):c.5262G>T (p.Lys1754Asn) rs748900588
NM_000051.3(ATM):c.5263A>G (p.Met1755Val) rs876659150
NM_000051.3(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.3(ATM):c.5270C>T (p.Thr1757Ile) rs587781575
NM_000051.3(ATM):c.5278A>G (p.Met1760Val) rs151327241
NM_000051.3(ATM):c.527T>A (p.Leu176Gln) rs1555066315
NM_000051.3(ATM):c.527T>C (p.Leu176Pro) rs1555066315
NM_000051.3(ATM):c.5288A>G (p.Tyr1763Cys) rs1555105780
NM_000051.3(ATM):c.5312G>C (p.Arg1771Thr) rs1416930012
NM_000051.3(ATM):c.5319+3C>A rs371640963
NM_000051.3(ATM):c.5319+3C>T rs371640963
NM_000051.3(ATM):c.5319+4T>C rs1170957197
NM_000051.3(ATM):c.5320-5T>C rs1555106308
NM_000051.3(ATM):c.5323T>G (p.Leu1775Val) rs768820804
NM_000051.3(ATM):c.5326G>A (p.Glu1776Lys) rs1555106321
NM_000051.3(ATM):c.532C>T (p.Pro178Ser) rs786201807
NM_000051.3(ATM):c.5330T>C (p.Val1777Ala) rs1555106328
NM_000051.3(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.3(ATM):c.5362G>A (p.Gly1788Ser) rs730881373
NM_000051.3(ATM):c.5368G>A (p.Asp1790Asn) rs876658890
NM_000051.3(ATM):c.5369A>T (p.Asp1790Val) rs746945284
NM_000051.3(ATM):c.5370T>A (p.Asp1790Glu) rs1555106395
NM_000051.3(ATM):c.5374A>G (p.Ile1792Val) rs1555106405
NM_000051.3(ATM):c.5392C>G (p.Leu1798Val) rs879254274
NM_000051.3(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.3(ATM):c.5410A>T (p.Ile1804Phe) rs769872474
NM_000051.3(ATM):c.5417T>C (p.Ile1806Thr) rs773546064
NM_000051.3(ATM):c.5418A>G (p.Ile1806Met) rs763020528
NM_000051.3(ATM):c.5428A>G (p.Thr1810Ala) rs876659748
NM_000051.3(ATM):c.5435C>T (p.Ala1812Val) rs199885813
NM_000051.3(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.3(ATM):c.5473C>A (p.Gln1825Lys) rs1555106553
NM_000051.3(ATM):c.5474A>C (p.Gln1825Pro) rs587782655
NM_000051.3(ATM):c.5489T>C (p.Met1830Thr) rs145812395
NM_000051.3(ATM):c.548A>C (p.His183Pro) rs786204219
NM_000051.3(ATM):c.5492G>A (p.Cys1831Tyr) rs1555106575
NM_000051.3(ATM):c.5496+5G>T rs786202708
NM_000051.3(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.3(ATM):c.550A>G (p.Arg184Gly) rs1555066377
NM_000051.3(ATM):c.5512T>C (p.Cys1838Arg) rs587781390
NM_000051.3(ATM):c.5512T>G (p.Cys1838Gly) rs587781390
NM_000051.3(ATM):c.5531A>G (p.Tyr1844Cys) rs876658907
NM_000051.3(ATM):c.5533T>A (p.Leu1845Met) rs1555107311
NM_000051.3(ATM):c.5543A>G (p.Asp1848Gly) rs1555107329
NM_000051.3(ATM):c.5551C>T (p.Leu1851Phe) 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.5566G>A (p.Glu1856Lys) rs1465041573
NM_000051.3(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
NM_000051.3(ATM):c.5576G>T (p.Arg1859Ile) rs1060501568
NM_000051.3(ATM):c.5582T>C (p.Leu1861Pro) rs1555107411
NM_000051.3(ATM):c.5585T>A (p.Leu1862His) rs1555107424
NM_000051.3(ATM):c.5590A>G (p.Thr1864Ala) rs1240167425
NM_000051.3(ATM):c.5594A>G (p.His1865Arg) rs876659963
NM_000051.3(ATM):c.5595T>A (p.His1865Gln) rs772261410
NM_000051.3(ATM):c.5600A>G (p.Gln1867Arg) rs1555107457
NM_000051.3(ATM):c.5605T>C (p.Phe1869Leu) rs975721205
NM_000051.3(ATM):c.5612C>T (p.Thr1871Ile) rs538452060
NM_000051.3(ATM):c.5618G>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.562G>T (p.Ala188Ser) rs1555066392
NM_000051.3(ATM):c.5633C>T (p.Ser1878Leu) rs758908522
NM_000051.3(ATM):c.5636A>G (p.Gln1879Arg) rs786203086
NM_000051.3(ATM):c.5637A>C (p.Gln1879His) rs587781993
NM_000051.3(ATM):c.5639C>T (p.Thr1880Met) rs587780628
NM_000051.3(ATM):c.563C>G (p.Ala188Gly) rs1555066393
NM_000051.3(ATM):c.5645G>A (p.Arg1882Gln) rs587782236
NM_000051.3(ATM):c.5645G>C (p.Arg1882Pro) rs587782236
NM_000051.3(ATM):c.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>C (p.Arg189Thr) rs79075295
NM_000051.3(ATM):c.5675-3C>G rs876658545
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.5683C>A (p.His1895Asn) rs766901049
NM_000051.3(ATM):c.5683C>T (p.His1895Tyr) rs766901049
NM_000051.3(ATM):c.5685C>A (p.His1895Gln) rs889445709
NM_000051.3(ATM):c.5690T>G (p.Phe1897Cys) rs587782516
NM_000051.3(ATM):c.5695T>A (p.Cys1899Ser) rs373213507
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>G (p.Met1909Arg) rs542378165
NM_000051.3(ATM):c.5727G>A (p.Met1909Ile) rs1555109119
NM_000051.3(ATM):c.5728C>A (p.Leu1910Ile) rs143577586
NM_000051.3(ATM):c.5737G>A (p.Val1913Met) rs876659487
NM_000051.3(ATM):c.5746A>G (p.Met1916Val) rs910274159
NM_000051.3(ATM):c.5747T>C (p.Met1916Thr) rs1060501557
NM_000051.3(ATM):c.5748_5750del (p.Met1916_Arg1917delinsIle) rs876659524
NM_000051.3(ATM):c.574C>G (p.His192Asp) rs587780629
NM_000051.3(ATM):c.574C>T (p.His192Tyr) rs587780629
NM_000051.3(ATM):c.5750G>C (p.Arg1917Thr) rs377289524
NM_000051.3(ATM):c.5753G>C (p.Arg1918Thr) rs148064985
NM_000051.3(ATM):c.575A>G (p.His192Arg) rs1555066411
NM_000051.3(ATM):c.577G>C (p.Ala193Pro) rs876659832
NM_000051.3(ATM):c.584C>T (p.Thr195Ile) rs1196611507
NM_000051.3(ATM):c.589G>A (p.Gly197Arg) rs764080545
NM_000051.3(ATM):c.58G>A (p.Ala20Thr) rs1555053946
NM_000051.3(ATM):c.590G>A (p.Gly197Glu) rs753806542
NM_000051.3(ATM):c.590G>T (p.Gly197Val) rs753806542
NM_000051.3(ATM):c.605C>T (p.Thr202Ile) rs1555066438
NM_000051.3(ATM):c.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.611G>T (p.Gly204Val) rs1555066451
NM_000051.3(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.3(ATM):c.620C>G (p.Ser207Cys) rs876660296
NM_000051.3(ATM):c.631G>A (p.Asp211Asn) rs1555066481
NM_000051.3(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.3(ATM):c.634T>C (p.Phe212Leu) rs876659912
NM_000051.3(ATM):c.640T>C (p.Ser214Pro) rs747053710
NM_000051.3(ATM):c.644A>C (p.Lys215Thr) rs755074633
NM_000051.3(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.3(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.3(ATM):c.649A>G (p.Ile217Val) rs547045780
NM_000051.3(ATM):c.653A>G (p.Gln218Arg) rs1198686265
NM_000051.3(ATM):c.654G>T (p.Gln218His) rs1555066555
NM_000051.3(ATM):c.655T>C (p.Cys219Arg) rs771685059
NM_000051.3(ATM):c.659C>T (p.Ala220Val) rs145355104
NM_000051.3(ATM):c.662+4A>G rs1555066570
NM_000051.3(ATM):c.668A>G (p.Glu223Gly) rs776227830
NM_000051.3(ATM):c.670A>G (p.Lys224Glu) rs145053092
NM_000051.3(ATM):c.672G>C (p.Lys224Asn) rs769731317
NM_000051.3(ATM):c.675C>G (p.Ser225Arg) rs1555066940
NM_000051.3(ATM):c.680C>T (p.Ser227Leu) rs762998620
NM_000051.3(ATM):c.689A>G (p.Asn230Ser) rs876659494
NM_000051.3(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.3(ATM):c.692A>G (p.His231Arg) rs587782229
NM_000051.3(ATM):c.695T>C (p.Ile232Thr) rs786203502
NM_000051.3(ATM):c.695T>G (p.Ile232Ser) rs786203502
NM_000051.3(ATM):c.707T>C (p.Leu236Pro) rs876659813
NM_000051.3(ATM):c.712A>G (p.Ile238Val) rs754275014
NM_000051.3(ATM):c.713T>C (p.Ile238Thr) rs149116878
NM_000051.3(ATM):c.716T>C (p.Phe239Ser) rs143198946
NM_000051.3(ATM):c.718C>T (p.Leu240Phe) rs1210038351
NM_000051.3(ATM):c.719T>G (p.Leu240Arg) rs876658753
NM_000051.3(ATM):c.728T>C (p.Leu243Ser) rs786202096
NM_000051.3(ATM):c.73-3C>T rs1555054039
NM_000051.3(ATM):c.737_742del (p.Asn246_Phe247del) rs1555067088
NM_000051.3(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.3(ATM):c.767A>T (p.Asp256Val) rs907941927
NM_000051.3(ATM):c.76G>C (p.Glu26Gln) rs730881361
NM_000051.3(ATM):c.779C>T (p.Pro260Leu) rs961262202
NM_000051.3(ATM):c.781A>T (p.Thr261Ser) rs786203410
NM_000051.3(ATM):c.785T>G (p.Leu262Trp) rs864622163
NM_000051.3(ATM):c.787C>T (p.Leu263Phe) rs876659531
NM_000051.3(ATM):c.78A>T (p.Glu26Asp) rs786202953
NM_000051.3(ATM):c.793A>G (p.Ile265Val) rs587781973
NM_000051.3(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.3(ATM):c.79G>A (p.Val27Ile) rs754770960
NM_000051.3(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.3(ATM):c.811C>A (p.Leu271Ile) rs730881339
NM_000051.3(ATM):c.826A>G (p.Lys276Glu) rs587782902
NM_000051.3(ATM):c.839T>C (p.Ile280Thr) rs587782080
NM_000051.3(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.3(ATM):c.884C>A (p.Ala295Asp) rs1044092081
NM_000051.3(ATM):c.887A>C (p.Lys296Thr) rs1064795297
NM_000051.3(ATM):c.889A>G (p.Thr297Ala) rs1340517984
NM_000051.3(ATM):c.896A>G (p.Glu299Gly) rs587779876
NM_000051.3(ATM):c.89T>A (p.Phe30Tyr) rs876658520
NM_000051.3(ATM):c.901+3A>T rs786203070
NM_000051.3(ATM):c.902G>A (p.Gly301Asp) rs202208861
NM_000051.3(ATM):c.905C>T (p.Ala302Val) rs778442248
NM_000051.3(ATM):c.916A>G (p.Thr306Ala) rs1555068304
NM_000051.3(ATM):c.925A>G (p.Arg309Gly) rs876659841
NM_000051.3(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000051.3(ATM):c.931A>G (p.Ile311Val) rs876658322
NM_000051.3(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000051.3(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000051.3(ATM):c.946T>C (p.Tyr316His) rs142317485
NM_000051.3(ATM):c.949G>T (p.Asp317Tyr) rs1445292591
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000051.3(ATM):c.951T>G (p.Asp317Glu) rs876659199
NM_000051.3(ATM):c.95G>A (p.Arg32His) rs368161489
NM_000051.3(ATM):c.962A>G (p.Asn321Ser) rs1555068398
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.3(ATM):c.977T>C (p.Ile326Thr) rs768720856
NM_000051.3(ATM):c.978A>G (p.Ile326Met) rs1555068424
NM_000051.3(ATM):c.984_986del (p.Ser328del) rs876659593
NM_000051.3(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000051.3(ATM):c.989G>C (p.Gly330Ala) rs762179829
NM_000051.3(ATM):c.991A>G (p.Lys331Glu) rs1555068451

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