ClinVar Miner

List of variants in gene ATM studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 871
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HGVS dbSNP
NC_000011.10:g.108279640_108279642del
NC_000011.10:g.108334219del
NM_000051.3(ATM):c.-14T>C
NM_000051.3(ATM):c.-18G>A rs374303671
NM_000051.3(ATM):c.-30-180C>T
NM_000051.3(ATM):c.-30-1G>T rs869312754
NM_000051.3(ATM):c.-34A>G rs563999137
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.3(ATM):c.1019C>G (p.Ala340Gly) rs730881387
NM_000051.3(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.3(ATM):c.1021G>A (p.Val341Ile) rs200601781
NM_000051.3(ATM):c.1025A>C (p.Lys342Thr) rs1064794119
NM_000051.3(ATM):c.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>T (p.Leu348Phe) rs879254039
NM_000051.3(ATM):c.1047G>A (p.Met349Ile) rs768480943
NM_000051.3(ATM):c.1048G>A (p.Ala350Thr) rs371713984
NM_000051.3(ATM):c.1051G>A (p.Asp351Asn) rs876659092
NM_000051.3(ATM):c.1051G>C (p.Asp351His) rs876659092
NM_000051.3(ATM):c.1052A>T (p.Asp351Val) rs1057521618
NM_000051.3(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.3(ATM):c.1055T>C (p.Ile352Thr) rs369203092
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-2A>T rs1555069514
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1079A>T (p.Asp360Val)
NM_000051.3(ATM):c.1080T>G (p.Asp360Glu) rs199869975
NM_000051.3(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.3(ATM):c.1099T>C (p.Ser367Pro) rs879254236
NM_000051.3(ATM):c.1104A>C (p.Gln368His) rs560691658
NM_000051.3(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.3(ATM):c.1110C>A (p.Tyr370Ter)
NM_000051.3(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.3(ATM):c.1112C>T (p.Thr371Ile) rs879254289
NM_000051.3(ATM):c.1124_1125GA[1] (p.Glu376fs) rs1064795624
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.1139_1142dup (p.Ser381fs) rs886041340
NM_000051.3(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.3(ATM):c.115A>G (p.Thr39Ala) rs779297339
NM_000051.3(ATM):c.1165A>G (p.Ile389Val) rs1060501704
NM_000051.3(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.3(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.3(ATM):c.119_122del (p.Ile40fs) rs876659116
NM_000051.3(ATM):c.1208C>A (p.Ser403Ter) rs747563556
NM_000051.3(ATM):c.1210C>G (p.Gln404Glu) rs730881340
NM_000051.3(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.3(ATM):c.1226T>C (p.Leu409Pro) rs1064793442
NM_000051.3(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1234T>C (p.Trp412Arg) rs587779812
NM_000051.3(ATM):c.1235+1delG rs886039640
NM_000051.3(ATM):c.1235+4_1235+5delAA rs770033355
NM_000051.3(ATM):c.1235+5A>T rs1064793679
NM_000051.3(ATM):c.1235G>A (p.Trp412Ter) rs587779813
NM_000051.3(ATM):c.1236-193C>T
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.3(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.3(ATM):c.1261T>C (p.Ser421Pro) rs376196220
NM_000051.3(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.3(ATM):c.1268A>G (p.Tyr423Cys) rs1064796159
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.1285_1288del (p.Asn429fs) rs1555070694
NM_000051.3(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.3(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.3(ATM):c.1300C>T (p.Pro434Ser) rs1064795171
NM_000051.3(ATM):c.1304T>C (p.Leu435Ser) rs1565382166
NM_000051.3(ATM):c.1310T>C (p.Met437Thr) rs587779814
NM_000051.3(ATM):c.1314A>C (p.Ile438=) rs770573462
NM_000051.3(ATM):c.1319C>T (p.Ser440Phe) rs773895161
NM_000051.3(ATM):c.131A>G (p.Asp44Gly) rs150143957
NM_000051.3(ATM):c.1325T>C (p.Leu442Pro) rs1064794732
NM_000051.3(ATM):c.1332C>A (p.Pro444=) rs763361384
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.1348G>T (p.Glu450Ter) rs1555070786
NM_000051.3(ATM):c.134G>A (p.Arg45Gln) rs762382111
NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) rs201719927
NM_000051.3(ATM):c.1352G>A (p.Arg451His) rs554805703
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1364T>C (p.Val455Ala) rs876658772
NM_000051.3(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.3(ATM):c.1368A>G (p.Leu456=) rs750579940
NM_000051.3(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.3(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.3(ATM):c.1373G>C (p.Cys458Ser) rs1064796013
NM_000051.3(ATM):c.1375C>G (p.Leu459Val) rs1064794635
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>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.3(ATM):c.1396C>T (p.Gln466Ter) rs876660485
NM_000051.3(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_000051.3(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.3(ATM):c.1436A>G (p.Asp479Gly) rs1555070958
NM_000051.3(ATM):c.1438T>G (p.Leu480Val) rs879254243
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.1463G>A (p.Trp488Ter) rs879254093
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.1471A>G (p.Thr491Ala) rs1555071008
NM_000051.3(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.3(ATM):c.1487_1495delinsTTTCTGAGT (p.Ser496_Gln499delinsIleSerGluTer) rs1064795556
NM_000051.3(ATM):c.1505C>G (p.Ala502Gly) rs766595156
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.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1538A>C (p.Gln513Pro) rs753109010
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.154G>T (p.Gly52Ter) rs730881362
NM_000051.3(ATM):c.1562_1563GA[1] (p.Glu522fs) rs587779817
NM_000051.3(ATM):c.1575G>T (p.Lys525Asn) rs587780613
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1624T>G (p.Leu542Val) rs587781366
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1631T>C (p.Leu544Ser) rs375754332
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1651G>T (p.Val551Phe) rs1555071742
NM_000051.3(ATM):c.1658del (p.Gly553fs) rs1064796556
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>T (p.Gly558Val) rs1064795257
NM_000051.3(ATM):c.1685A>G (p.Asn562Ser) rs368209025
NM_000051.3(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.3(ATM):c.1695A>G (p.Glu565=) rs780932013
NM_000051.3(ATM):c.1697_1706del (p.Val566fs) rs1064794468
NM_000051.3(ATM):c.1700A>G (p.Asn567Ser) rs786203230
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.170G>A (p.Trp57Ter) rs587779818
NM_000051.3(ATM):c.1726A>G (p.Ile576Val) rs1064795170
NM_000051.3(ATM):c.1727T>C (p.Ile576Thr) rs730881342
NM_000051.3(ATM):c.172G>C (p.Asp58His) rs876660661
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.1745T>A (p.Phe582Tyr) rs1064794747
NM_000051.3(ATM):c.1748A>G (p.Tyr583Cys) rs587780614
NM_000051.3(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer) rs1064796083
NM_000051.3(ATM):c.1759G>A (p.Gly587Ser) rs879254227
NM_000051.3(ATM):c.1772A>G (p.Asn591Ser) rs1064794804
NM_000051.3(ATM):c.1773T>C (p.Asn591=) rs61734356
NM_000051.3(ATM):c.1779A>G (p.Thr593=) rs876660493
NM_000051.3(ATM):c.1790C>T (p.Pro597Leu) rs765847854
NM_000051.3(ATM):c.1792A>G (p.Ile598Val) rs730881343
NM_000051.3(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.3(ATM):c.1803-154G>A
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1814A>G (p.His605Arg) rs771877351
NM_000051.3(ATM):c.1837G>T (p.Val613Leu) rs200124136
NM_000051.3(ATM):c.1841G>C (p.Ser614Thr) rs770377706
NM_000051.3(ATM):c.184A>G (p.Arg62Gly) rs876659407
NM_000051.3(ATM):c.185+16T>C rs1343329254
NM_000051.3(ATM):c.1855A>C (p.Asn619His) rs140882609
NM_000051.3(ATM):c.186-7C>T rs55674039
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+2T>G rs587782124
NM_000051.3(ATM):c.1898+3_1898+4delAT rs879254094
NM_000051.3(ATM):c.1901A>T (p.Glu634Val) rs1555073069
NM_000051.3(ATM):c.1905C>T (p.His635=) rs1020808836
NM_000051.3(ATM):c.1905_1910del (p.His635_His636del) rs587781635
NM_000051.3(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_000051.3(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610
NM_000051.3(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.3(ATM):c.1921_1923GAA[1] (p.Glu642del) rs876659575
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.3(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.3(ATM):c.1943T>C (p.Val648Ala) rs141175037
NM_000051.3(ATM):c.1953A>G (p.Leu651=) rs730881283
NM_000051.3(ATM):c.1960C>A (p.Gln654Lys) rs528165789
NM_000051.3(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.3(ATM):c.1966A>G (p.Thr656Ala) rs1064793032
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.1994T>C (p.Ile665Thr) rs1064793789
NM_000051.3(ATM):c.2005T>C (p.Cys669Arg) rs587782141
NM_000051.3(ATM):c.2011A>G (p.Ile671Val) rs730881344
NM_000051.3(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2036G>C (p.Gly679Ala) rs544123518
NM_000051.3(ATM):c.2051A>G (p.Gln684Arg) rs772393149
NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) rs765965513
NM_000051.3(ATM):c.2080_2081del (p.Leu694fs) rs886039591
NM_000051.3(ATM):c.2085G>A (p.Leu695=) rs786202229
NM_000051.3(ATM):c.2086G>A (p.Gly696Arg) rs879254178
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2115C>G (p.Tyr705Ter) rs876659149
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2124+1G>T rs1555073553
NM_000051.3(ATM):c.2125-4T>C rs1064795623
NM_000051.3(ATM):c.2125A>T (p.Ile709Phe) rs864622259
NM_000051.3(ATM):c.2147T>A (p.Val716Asp) rs864622294
NM_000051.3(ATM):c.2149C>T (p.Arg717Trp) rs147515380
NM_000051.3(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.3(ATM):c.2150G>C (p.Arg717Pro) rs768874297
NM_000051.3(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.3(ATM):c.2159G>A (p.Arg720His) rs55830714
NM_000051.3(ATM):c.2167_2173del (p.Val723fs) rs1064793033
NM_000051.3(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.3(ATM):c.2181C>T (p.Gly727=) rs876658836
NM_000051.3(ATM):c.2192A>T (p.Tyr731Phe) rs730881345
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.3(ATM):c.2222A>G (p.Tyr741Cys) rs878853492
NM_000051.3(ATM):c.2238C>T (p.Phe746=) rs786203595
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2251-4A>G rs786202935
NM_000051.3(ATM):c.2251-7A>G rs879254103
NM_000051.3(ATM):c.2251T>A (p.Ser751Thr) rs1064793558
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.2269G>A (p.Gly757Arg) rs587779819
NM_000051.3(ATM):c.2275A>G (p.Ser759Gly) rs148705269
NM_000051.3(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) rs2235011
NM_000051.3(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_000051.3(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.229A>G (p.Ile77Val) rs1064796032
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.233C>G (p.Ala78Gly) rs876659669
NM_000051.3(ATM):c.2341C>G (p.Gln781Glu) rs1555075781
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
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.2376+1G>T rs730881347
NM_000051.3(ATM):c.2377-15_2377-12delTTGT rs730881298
NM_000051.3(ATM):c.2377-6T>A rs876660963
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
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.238C>T (p.Pro80Ser) rs750597831
NM_000051.3(ATM):c.2396C>T (p.Ala799Val) rs199954262
NM_000051.3(ATM):c.2403C>A (p.Gly801=)
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.241A>G (p.Asn81Asp) rs758962678
NM_000051.3(ATM):c.2425T>G (p.Ser809Ala) rs926246315
NM_000051.3(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.3(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.3(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.3(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.3(ATM):c.2449G>A (p.Asp817Asn) rs587778067
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.2450A>G (p.Asp817Gly) rs587779821
NM_000051.3(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.3(ATM):c.2466+5G>C rs1064795969
NM_000051.3(ATM):c.2466+8T>A rs765619483
NM_000051.3(ATM):c.2467-7C>T rs768850329
NM_000051.3(ATM):c.2471C>T (p.Ser824Phe) rs1555082060
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.3(ATM):c.2492A>G (p.Asp831Gly) rs587781352
NM_000051.3(ATM):c.2494C>A (p.Arg832Ser) rs2229022
NM_000051.3(ATM):c.2494C>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.2500_2501delinsCT (p.Glu834Leu) rs879254208
NM_000051.3(ATM):c.2501A>G (p.Glu834Gly) rs730881349
NM_000051.3(ATM):c.2501A>T (p.Glu834Val) rs730881349
NM_000051.3(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.3(ATM):c.2506G>A (p.Glu836Lys) rs141054982
NM_000051.3(ATM):c.2519A>T (p.Asp840Val) rs786202605
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.3(ATM):c.2532A>G (p.Gly844=) rs755261743
NM_000051.3(ATM):c.2539A>G (p.Met847Val) rs587779823
NM_000051.3(ATM):c.2542G>A (p.Glu848Lys) rs879254046
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.2561C>A (p.Ser854Tyr) rs778123895
NM_000051.3(ATM):c.2564T>C (p.Met855Thr) rs587779824
NM_000051.3(ATM):c.2564dup (p.Met855fs) rs730881299
NM_000051.3(ATM):c.2569C>G (p.Leu857Val) rs876659486
NM_000051.3(ATM):c.2571_2572del (p.Leu857_Phe858insTer) rs1555082257
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.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.3(ATM):c.2598T>G (p.Val866=) rs730881350
NM_000051.3(ATM):c.2606C>G (p.Ala869Gly) rs145513717
NM_000051.3(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2610C>T (p.Asn870=) rs587780618
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2630G>C (p.Ser877Thr) rs370269552
NM_000051.3(ATM):c.2634C>G (p.Thr878=) rs771444818
NM_000051.3(ATM):c.2635A>G (p.Ile879Val) rs556598169
NM_000051.3(ATM):c.2636T>C (p.Ile879Thr) rs746265230
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2638+6T>C rs768305533
NM_000051.3(ATM):c.2655A>T (p.Leu885Phe) rs730881351
NM_000051.3(ATM):c.2662G>C (p.Glu888Gln) rs879254083
NM_000051.3(ATM):c.2662G>T (p.Glu888Ter) rs879254083
NM_000051.3(ATM):c.2666A>G (p.Tyr889Cys) rs1064793034
NM_000051.3(ATM):c.2672C>G (p.Ser891Ter) rs876660780
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.2699T>C (p.Met900Thr) rs863224558
NM_000051.3(ATM):c.2705A>C (p.Lys902Thr) rs730881352
NM_000051.3(ATM):c.2705A>G (p.Lys902Arg) rs730881352
NM_000051.3(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.3(ATM):c.2717T>C (p.Leu906Ser) rs1064794688
NM_000051.3(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.3(ATM):c.2727del (p.Thr910fs) rs1555083267
NM_000051.3(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
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.2770C>T (p.Arg924Trp) rs55723361
NM_000051.3(ATM):c.2771G>A (p.Arg924Gln) rs587782298
NM_000051.3(ATM):c.2797T>A (p.Ser933Thr) rs1060501698
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.3(ATM):c.2818A>G (p.Lys940Glu) rs1064795896
NM_000051.3(ATM):c.2824C>T (p.Leu942Phe) rs3218688
NM_000051.3(ATM):c.2829_2838+16delinsA rs1565420196
NM_000051.3(ATM):c.2836A>G (p.Met946Val) rs587781992
NM_000051.3(ATM):c.2839-337G>A
NM_000051.3(ATM):c.2839-384T>A
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
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.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.2867G>A (p.Gly956Glu) rs752099312
NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.3(ATM):c.2879C>T (p.Pro960Leu) 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.2893G>C (p.Asp965His) rs1064793035
NM_000051.3(ATM):c.2897_2899delinsGCCAA (p.Val966fs) rs730881301
NM_000051.3(ATM):c.290T>C (p.Ile97Thr) rs786203011
NM_000051.3(ATM):c.2917C>T (p.Leu973=) rs535646511
NM_000051.3(ATM):c.2919A>G (p.Leu973=) rs587779829
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.3(ATM):c.2921C>T (p.Ser974Phe) rs538105098
NM_000051.3(ATM):c.2922-2A>T
NM_000051.3(ATM):c.2922-8T>A 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.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.2939A>T (p.Tyr980Phe) rs1064794211
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.2954A>T (p.Asp985Val) rs864622159
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.2983C>T (p.Leu995Phe) rs587779831
NM_000051.3(ATM):c.2999A>T (p.Asn1000Ile) rs1555085128
NM_000051.3(ATM):c.299_307del (p.Leu100_Lys102del) rs879254161
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3001C>G (p.Leu1001Val) rs377244521
NM_000051.3(ATM):c.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.3025G>C (p.Glu1009Gln) rs1064794039
NM_000051.3(ATM):c.3045A>C (p.Gln1015His) rs1064796404
NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.3(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.3(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.3(ATM):c.3077+209C>G
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3077+5G>A rs777003996
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3085A>T (p.Thr1029Ser) rs730881355
NM_000051.3(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3128T>G (p.Val1043Gly) rs730881356
NM_000051.3(ATM):c.3146dup (p.Leu1049fs) rs1565427961
NM_000051.3(ATM):c.3151G>C (p.Glu1051Gln) rs774935453
NM_000051.3(ATM):c.3154-2A>G rs730881357
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.3154G>A (p.Ala1052Thr) rs1064793036
NM_000051.3(ATM):c.3161C>A (p.Pro1054His) rs1800057
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.3174G>C (p.Trp1058Cys) rs1064796080
NM_000051.3(ATM):c.3175G>A (p.Ala1059Thr) rs370282831
NM_000051.3(ATM):c.3194G>A (p.Gly1065Glu) rs762810180
NM_000051.3(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687
NM_000051.3(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.3(ATM):c.3237T>C (p.Ala1079=) rs564238520
NM_000051.3(ATM):c.3240C>A (p.Asp1080Glu) rs149911447
NM_000051.3(ATM):c.3242A>G (p.Asn1081Ser) rs368111672
NM_000051.3(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.3(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.3(ATM):c.3256C>T (p.Arg1086Cys) rs201780199
NM_000051.3(ATM):c.3257G>A (p.Arg1086His) rs769857066
NM_000051.3(ATM):c.3265G>T (p.Ala1089Ser) rs730881358
NM_000051.3(ATM):c.3273G>A (p.Glu1091=) rs762860946
NM_000051.3(ATM):c.3275_3278CAAT[1] (p.Asn1094fs) rs879254281
NM_000051.3(ATM):c.3283A>C (p.Arg1095=) rs876660302
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3285-9_3285-5delTGTTTinsGTTC rs1064796108
NM_000051.3(ATM):c.3285-9delT rs1799757
NM_000051.3(ATM):c.3291C>G (p.Phe1097Leu) rs876658491
NM_000051.3(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.3(ATM):c.3295G>A (p.Asp1099Asn) rs372966951
NM_000051.3(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951
NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.3(ATM):c.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.332-158T>A
NM_000051.3(ATM):c.332-158delT
NM_000051.3(ATM):c.332-1G>A rs747855862
NM_000051.3(ATM):c.332-3T>C rs376116157
NM_000051.3(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.3(ATM):c.3324G>C (p.Leu1108=) rs762269034
NM_000051.3(ATM):c.3331C>G (p.Leu1111Val) rs587779832
NM_000051.3(ATM):c.3334C>G (p.Pro1112Ala) rs876658963
NM_000051.3(ATM):c.3335C>G (p.Pro1112Arg) rs1064795850
NM_000051.3(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer) rs1064796055
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3365A>G (p.Asn1122Ser) rs745863765
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.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3402+16A>G rs763382531
NM_000051.3(ATM):c.3402+70A>G
NM_000051.3(ATM):c.3403-14_3403-13dupAA
NM_000051.3(ATM):c.3403-15dup rs1555091083
NM_000051.3(ATM):c.3407A>G (p.His1136Arg) rs768490475
NM_000051.3(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.3(ATM):c.3420C>T (p.Asn1140=) rs1329688204
NM_000051.3(ATM):c.3431T>C (p.Leu1144Ser) rs879253949
NM_000051.3(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
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.3478G>C (p.Val1160Leu) rs567344545
NM_000051.3(ATM):c.3505G>A (p.Glu1169Lys) rs200765255
NM_000051.3(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.3(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.3(ATM):c.3532A>T (p.Lys1178Ter) rs1555091359
NM_000051.3(ATM):c.3544G>C (p.Glu1182Gln) rs377349886
NM_000051.3(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.3(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.3577-6G>A rs56006345
NM_000051.3(ATM):c.3577-7C>A rs558667657
NM_000051.3(ATM):c.3577G>A (p.Val1193Ile) rs779148780
NM_000051.3(ATM):c.3589G>C (p.Val1197Leu) rs879254024
NM_000051.3(ATM):c.3601T>A (p.Phe1201Ile) rs576884305
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.3619G>T (p.Glu1207Ter) rs772724024
NM_000051.3(ATM):c.361T>A (p.Leu121Ile) rs587782178
NM_000051.3(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
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.3631del (p.Ala1211fs) rs1064795885
NM_000051.3(ATM):c.3634T>G (p.Ser1212Ala) rs1131691390
NM_000051.3(ATM):c.3635_3646del (p.Ser1212_Asp1215del) rs1064795717
NM_000051.3(ATM):c.3637C>T (p.His1213Tyr) rs1064793387
NM_000051.3(ATM):c.364_368del (p.Asn122fs) rs1555059095
NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter) rs864622490
NM_000051.3(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.3(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis) rs1064795822
NM_000051.3(ATM):c.3689A>G (p.Asn1230Ser) rs587782195
NM_000051.3(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.3(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389
NM_000051.3(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.3(ATM):c.3703_3708del (p.Pro1235_Phe1236del)
NM_000051.3(ATM):c.3707_3711TTATT[1] (p.Leu1238fs) rs786201675
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.3(ATM):c.3728A>T (p.Asn1243Ile) rs730881363
NM_000051.3(ATM):c.3740T>C (p.Phe1247Ser) rs1064793581
NM_000051.3(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370
NM_000051.3(ATM):c.3746+4A>G
NM_000051.3(ATM):c.3747-1G>C rs730881364
NM_000051.3(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.3(ATM):c.3772C>A (p.His1258Asn) rs587782741
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.37C>T (p.Arg13Cys) rs141586345
NM_000051.3(ATM):c.3802G>A (p.Val1268Met) rs863224564
NM_000051.3(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.3(ATM):c.3832G>A (p.Asp1278Asn) rs730881365
NM_000051.3(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.3(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.3(ATM):c.3842G>A (p.Ser1281Asn) rs1064797161
NM_000051.3(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.3(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.3(ATM):c.3857G>T (p.Cys1286Phe) rs876660770
NM_000051.3(ATM):c.3873T>G (p.Leu1291=) rs1565447438
NM_000051.3(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.3(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.3(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.3(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185
NM_000051.3(ATM):c.38G>A (p.Arg13His) rs778201041
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3926_3927CA[4] (p.Gln1310fs) rs1555093659
NM_000051.3(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.3(ATM):c.3931C>T (p.Gln1311Ter) rs200976093
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3943G>T (p.Ala1315Ser) rs1064794757
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.3963G>A (p.Met1321Ile) rs35184530
NM_000051.3(ATM):c.3964C>A (p.Leu1322Ile) rs144535256
NM_000051.3(ATM):c.3965T>A (p.Leu1322His) rs786203306
NM_000051.3(ATM):c.3978C>A (p.Asn1326Lys) rs778123057
NM_000051.3(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.3(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3993+3A>G rs771789242
NM_000051.3(ATM):c.3993+40G>A
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.3(ATM):c.3994-111C>G
NM_000051.3(ATM):c.3994-121delC rs56013141
NM_000051.3(ATM):c.3994-50C>T
NM_000051.3(ATM):c.3994-9C>T rs767111803
NM_000051.3(ATM):c.3994A>C (p.Ile1332Leu) rs1064793534
NM_000051.3(ATM):c.3995T>G (p.Ile1332Ser) rs1064793805
NM_000051.3(ATM):c.3996del (p.Ile1332fs) rs1555095807
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.4040T>A (p.Leu1347Ter) rs1565452621
NM_000051.3(ATM):c.4049C>T (p.Thr1350Met) rs587781785
NM_000051.3(ATM):c.4052del (p.Leu1351fs) rs786202350
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.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.3(ATM):c.4071T>C (p.Ser1357=) rs767516955
NM_000051.3(ATM):c.4078A>T (p.Ser1360Cys) rs761123780
NM_000051.3(ATM):c.4082A>G (p.Gln1361Arg) rs141921797
NM_000051.3(ATM):c.4082_4083AG[1] (p.Ser1362fs) rs886039488
NM_000051.3(ATM):c.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.3(ATM):c.4091A>G (p.Asp1364Gly) rs751169467
NM_000051.3(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4109+1G>T rs879254034
NM_000051.3(ATM):c.4109+6T>C rs368606937
NM_000051.3(ATM):c.4110-9C>A rs730881367
NM_000051.3(ATM):c.4110-9C>G rs730881367
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.3(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.3(ATM):c.4151A>C (p.His1384Pro) rs757172522
NM_000051.3(ATM):c.4153G>T (p.Val1385Leu) rs1064794484
NM_000051.3(ATM):c.4158T>G (p.Ile1386Met) rs879254026
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4196C>A (p.Thr1399Asn) rs786203761
NM_000051.3(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.3(ATM):c.4198A>T (p.Lys1400Ter) rs587781950
NM_000051.3(ATM):c.4201T>A (p.Leu1401Ile) rs587779838
NM_000051.3(ATM):c.4226C>A (p.Ser1409Tyr) rs730881368
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
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.4303A>C (p.Lys1435Gln) rs876660964
NM_000051.3(ATM):c.4303A>T (p.Lys1435Ter) rs876660964
NM_000051.3(ATM):c.4304A>C (p.Lys1435Thr) rs769980220
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.4323A>G (p.Ile1441Met) rs587779839
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4329C>A (p.His1443Gln) rs377065665
NM_000051.3(ATM):c.432dup (p.Leu145fs) rs1555059330
NM_000051.3(ATM):c.4332G>A (p.Leu1444=) rs753570046
NM_000051.3(ATM):c.4332_4337delinsTAAAA (p.Phe1445fs) rs1064795394
NM_000051.3(ATM):c.4358T>C (p.Ile1453Thr) rs587782126
NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.3(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.3(ATM):c.4375G>A (p.Gly1459Arg) rs145667735
NM_000051.3(ATM):c.4377A>C (p.Gly1459=) rs1565456710
NM_000051.3(ATM):c.4379C>T (p.Ala1460Val) rs376165779
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4396C>G (p.Arg1466Gly) rs730881369
NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.3(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.3(ATM):c.4400A>G (p.Asp1467Gly) rs730881392
NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4404T>C (p.Val1468=) rs1555097801
NM_000051.3(ATM):c.4405del (p.Ile1469fs) rs886041938
NM_000051.3(ATM):c.4414T>G (p.Leu1472Val) rs539676759
NM_000051.3(ATM):c.4416del (p.Ile1473fs) rs886039697
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.4437-1G>A rs759520465
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4440_4441delinsGC (p.Ser1481Pro) rs1064793037
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.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.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.4494A>C (p.Leu1498Phe) rs1064793476
NM_000051.3(ATM):c.4505G>T (p.Cys1502Phe) rs759340881
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.4514C>T (p.Ala1505Val) rs1064795883
NM_000051.3(ATM):c.4516G>A (p.Val1506Met) rs760542469
NM_000051.3(ATM):c.4520C>T (p.Thr1507Ile) rs1064793811
NM_000051.3(ATM):c.4525T>C (p.Cys1509Arg) rs1064795574
NM_000051.3(ATM):c.4561G>C (p.Val1521Leu) rs141329176
NM_000051.3(ATM):c.4564G>A (p.Gly1522Ser) rs1064795495
NM_000051.3(ATM):c.4606A>G (p.Lys1536Glu) rs587779841
NM_000051.3(ATM):c.4610A>T (p.Gln1537Leu) rs1064794041
NM_000051.3(ATM):c.4611+9C>G rs760704159
NM_000051.3(ATM):c.4612-122G>T
NM_000051.3(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.3(ATM):c.4626G>A (p.Leu1542=) rs786202784
NM_000051.3(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362
NM_000051.3(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) rs587778075
NM_000051.3(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
NM_000051.3(ATM):c.4666T>C (p.Tyr1556His) rs587781320
NM_000051.3(ATM):c.4673C>T (p.Thr1558Met) rs587781712
NM_000051.3(ATM):c.4674G>A (p.Thr1558=) rs876658474
NM_000051.3(ATM):c.4683_4689del (p.Asp1563fs) rs886039515
NM_000051.3(ATM):c.4691C>A (p.Pro1564His) rs1064793971
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.4724G>A (p.Arg1575His) rs550552791
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.3(ATM):c.4768C>T (p.Leu1590Phe) rs35962982
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.4776+2_4776+13delTAATAAAAATTT rs762838462
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.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4792C>A (p.Leu1598Ile) rs375190373
NM_000051.3(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.3(ATM):c.483G>C (p.Gln161His) rs864622742
NM_000051.3(ATM):c.4852C>T (p.Arg1618Ter) rs762083530
NM_000051.3(ATM):c.4856G>A (p.Arg1619Lys) rs730881393
NM_000051.3(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.3(ATM):c.4871A>G (p.His1624Arg) rs56354559
NM_000051.3(ATM):c.4873A>G (p.Lys1625Glu) rs1060501693
NM_000051.3(ATM):c.4878T>C (p.Asp1626=) rs755687834
NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.3(ATM):c.4910-156T>A
NM_000051.3(ATM):c.4921G>C (p.Asp1641His) rs587782896
NM_000051.3(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.3(ATM):c.493T>C (p.Leu165=) rs878853514
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.4953G>T (p.Leu1651Phe) rs786201297
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.4964C>A (p.Ser1655Tyr) rs786201215
NM_000051.3(ATM):c.4980C>T (p.Asn1660=) rs144338238
NM_000051.3(ATM):c.5005+19C>G rs1064794787
NM_000051.3(ATM):c.5006-14delA rs879254277
NM_000051.3(ATM):c.5009C>T (p.Ala1670Val) rs375131360
NM_000051.3(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.3(ATM):c.502T>C (p.Phe168Leu) rs1565369177
NM_000051.3(ATM):c.5036G>T (p.Gly1679Val) rs1064794124
NM_000051.3(ATM):c.5039C>T (p.Pro1680Leu) rs587782153
NM_000051.3(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.3(ATM):c.5054C>T (p.Thr1685Ile) rs879254191
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.5069A>G (p.His1690Arg) rs863224574
NM_000051.3(ATM):c.506C>G (p.Ser169Cys) rs587779843
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5072G>C (p.Ser1691Thr) rs1064795911
NM_000051.3(ATM):c.5076A>C (p.Lys1692Asn) rs767841041
NM_000051.3(ATM):c.5080G>A (p.Ala1694Thr) rs756197350
NM_000051.3(ATM):c.5089A>G (p.Thr1697Ala) rs142455912
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5144T>C (p.Leu1715Pro) rs747800057
NM_000051.3(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.3(ATM):c.5178-150T>C
NM_000051.3(ATM):c.5179G>A (p.Val1727Ile) rs1064793458
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.5191T>C (p.Ser1731Pro) rs1064793038
NM_000051.3(ATM):c.5192C>G (p.Ser1731Ter) rs886039627
NM_000051.3(ATM):c.5194G>A (p.Ala1732Thr) rs730881372
NM_000051.3(ATM):c.5201_5202insAT (p.Thr1735fs) rs730881305
NM_000051.3(ATM):c.5209_5210del (p.Leu1737fs) rs1555105660
NM_000051.3(ATM):c.5212A>G (p.Lys1738Glu) rs1064793957
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5237G>T (p.Gly1746Val) rs879254135
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.5278A>G (p.Met1760Val) rs151327241
NM_000051.3(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_000051.3(ATM):c.5319+6_5319+7delTT rs777478613
NM_000051.3(ATM):c.5319_5319+8delGGTCTCTTAinsTGTTTG rs1064792939
NM_000051.3(ATM):c.5320-171C>A
NM_000051.3(ATM):c.5320-74T>C
NM_000051.3(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
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.5353C>G (p.Pro1785Ala) rs587779848
NM_000051.3(ATM):c.5358T>A (p.Phe1786Leu) rs876659725
NM_000051.3(ATM):c.5362G>A (p.Gly1788Ser) rs730881373
NM_000051.3(ATM):c.5377A>C (p.Asn1793His) rs730881374
NM_000051.3(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.3(ATM):c.538C>T (p.Gln180Ter) rs730881333
NM_000051.3(ATM):c.5392C>G (p.Leu1798Val) rs879254274
NM_000051.3(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.3(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.3(ATM):c.5432G>C (p.Cys1811Ser) rs149569091
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.3(ATM):c.5470C>T (p.Leu1824Phe) rs764784077
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.5496+1G>A rs879254180
NM_000051.3(ATM):c.5496+1G>T rs879254180
NM_000051.3(ATM):c.5497-168T>C
NM_000051.3(ATM):c.5497-1G>A rs876660245
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.5497-3T>G rs1064795486
NM_000051.3(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.3(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.3(ATM):c.5512T>G (p.Cys1838Gly) rs587781390
NM_000051.3(ATM):c.5516dup (p.Thr1840fs) rs879254242
NM_000051.3(ATM):c.5521_5522del (p.Val1841fs) rs1555107293
NM_000051.3(ATM):c.5534del (p.Tyr1844_Leu1845insTer) rs1555107315
NM_000051.3(ATM):c.5536A>G (p.Ile1846Val) rs587779849
NM_000051.3(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.554T>C (p.Val185Ala) rs730881335
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5561C>G (p.Thr1854Arg) rs138710254
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
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.561_562delinsT (p.Ala188fs) rs1064793031
NM_000051.3(ATM):c.5623C>T (p.Arg1875Ter) rs376603775
NM_000051.3(ATM):c.5630T>C (p.Phe1877Ser) rs202028401
NM_000051.3(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.3(ATM):c.5633C>T (p.Ser1878Leu) rs758908522
NM_000051.3(ATM):c.5636A>G (p.Gln1879Arg) rs786203086
NM_000051.3(ATM):c.5639C>T (p.Thr1880Met) rs587780628
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5653A>T (p.Thr1885Ser) rs587779850
NM_000051.3(ATM):c.5653dup (p.Thr1885fs) rs587778077
NM_000051.3(ATM):c.5674+102A>G
NM_000051.3(ATM):c.5674G>A (p.Glu1892Lys) rs730881375
NM_000051.3(ATM):c.5675-10T>G rs377599533
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.5677T>A (p.Ser1893Thr) rs730881376
NM_000051.3(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
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.5734G>C (p.Val1912Leu) rs1064794105
NM_000051.3(ATM):c.5745del (p.Asp1914_Tyr1915insTer) rs1555109147
NM_000051.3(ATM):c.5747T>C (p.Met1916Thr) rs1060501557
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.5762+119G>A
NM_000051.3(ATM):c.578C>G (p.Ala193Gly) rs1064793928
NM_000051.3(ATM):c.589G>A (p.Gly197Arg) rs764080545
NM_000051.3(ATM):c.590G>A (p.Gly197Glu) rs753806542
NM_000051.3(ATM):c.596G>A (p.Cys199Tyr) rs879254127
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.606_609del (p.Asp203_Gly204insTer) rs876658548
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.3(ATM):c.61A>G (p.Thr21Ala) rs1565344141
NM_000051.3(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
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.652C>T (p.Gln218Ter) rs1555066551
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.663-2A>G rs886041931
NM_000051.3(ATM):c.663-8C>A rs1060501661
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
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.67C>T (p.Arg23Ter) rs746235533
NM_000051.3(ATM):c.680del (p.Ser226_Ser227insTer) rs879254070
NM_000051.3(ATM):c.692A>G (p.His231Arg) rs587782229
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.712A>G (p.Ile238Val) rs754275014
NM_000051.3(ATM):c.713T>C (p.Ile238Thr) rs149116878
NM_000051.3(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.3(ATM):c.728T>C (p.Leu243Ser) rs786202096
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.3(ATM):c.751G>A (p.Val251Met) rs1057519145
NM_000051.3(ATM):c.76G>C (p.Glu26Gln) rs730881361
NM_000051.3(ATM):c.78A>T (p.Glu26Asp) rs786202953
NM_000051.3(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.3(ATM):c.791A>G (p.Tyr264Cys) rs730881338
NM_000051.3(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.3(ATM):c.79G>A (p.Val27Ile) rs754770960
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.811C>A (p.Leu271Ile) rs730881339
NM_000051.3(ATM):c.826A>C (p.Lys276Gln) rs587782902
NM_000051.3(ATM):c.826A>G (p.Lys276Glu) rs587782902
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.86A>C (p.Lys29Thr) rs147009251
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.884C>A (p.Ala295Asp) rs1044092081
NM_000051.3(ATM):c.887A>G (p.Lys296Arg) rs1064795297
NM_000051.3(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.3(ATM):c.901+1G>C rs748840480
NM_000051.3(ATM):c.901+99C>A
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.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.946T>C (p.Tyr316His) rs142317485
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
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.975T>C (p.His325=) rs746825207
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.3:c.3994-97G>A
NM_000051.3:c.4237-8T>C
NM_000051.3:c.5319+3C>A

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