ClinVar Miner

List of variants in gene ATM reported as pathogenic for ataxia telangiectasia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1230
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1236-2A>T rs80159221 0.00008
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.2466+1552G>C rs963653732 0.00002
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1235+3A>G rs1417190414 0.00001
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter) rs786202195 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3747-16A>G rs1555093241 0.00001
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3994-159A>G rs864622543 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter) rs766438805 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.4909+1G>A rs756987454 0.00001
NM_000051.4(ATM):c.4909+4C>T rs587782125 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter) rs2083444895 0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs) rs1214541502 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.680C>T (p.Ser227Leu) rs762998620 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000051.4(ATM):c.943_944del (p.Leu315fs) rs768024233 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NC_000011.10:g.(?_108223043)_(108249112_?)del
NC_000011.10:g.(?_108227615)_(108229333_?)del
NC_000011.10:g.(?_108227619)_(108227894_?)del
NC_000011.10:g.(?_108227625)_(108245036_?)del
NC_000011.10:g.(?_108227625)_(108365508_?)del
NC_000011.10:g.(?_108235660)_(108284483_?)del
NC_000011.10:g.(?_108246954)_(108247137_?)del
NC_000011.10:g.(?_108248923)_(108249112_?)del
NC_000011.10:g.(?_108248923)_(108272862_?)del
NC_000011.10:g.(?_108250691)_(108254049_?)del
NC_000011.10:g.(?_108250691)_(108257616_?)del
NC_000011.10:g.(?_108267161)_(108307994_?)del
NC_000011.10:g.(?_108279481)_(108281178_?)del
NC_000011.10:g.(?_108280985)_(108287725_?)del
NC_000011.10:g.(?_108280995)_(108289801_?)del
NC_000011.10:g.(?_108282700)_(108287725_?)del
NC_000011.10:g.(?_108289582)_(108289821_?)del
NC_000011.10:g.(?_108289592)_(108289811_?)del
NC_000011.10:g.(?_108289602)_(108289801_?)del
NC_000011.10:g.(?_108292609)_(108293487_?)del
NC_000011.10:g.(?_108307887)_(108365508_?)del
NC_000011.10:g.(?_108325300)_(108347375_?)del
NC_000011.10:g.(?_108325300)_(108365508_?)del
NC_000011.10:g.(?_108353756)_(108354884_?)del
NC_000011.10:g.(?_108365010)_(108365542_?)del
NC_000011.10:g.(?_108365072)_(108365508_?)del
NC_000011.10:g.108246997_108246998insAlu
NC_000011.10:g.108271077_108271078insTTTTTTTTTTTTTTTTTTGANNNNNNNNNNTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTATCTAATGCTTTT rs2135547194
NC_000011.10:g.108272532del rs2135564943
NC_000011.9:g.(108129803_108137897)_(108239830_?)del
NC_000011.9:g.(?_107992314)_108236255del
NC_000011.9:g.(?_108093770)_(108098625_?)del
NC_000011.9:g.(?_108093770)_(108100060_?)del
NC_000011.9:g.(?_108093770)_(108114855_?)del
NC_000011.9:g.(?_108093770)_(108164214_?)del
NC_000011.9:g.(?_108093770)_108128343del
NC_000011.9:g.(?_108098171)_(108124564_?)del
NC_000011.9:g.(?_108098342)_(108098625_?)del
NC_000011.9:g.(?_108098346)_(108138075_?)del
NC_000011.9:g.(?_108098346)_(108236241_?)del
NC_000011.9:g.(?_108098352)_(108098615_?)del
NC_000011.9:g.(?_108098352)_(108100060_?)del
NC_000011.9:g.(?_108098352)_(108106571_?)del
NC_000011.9:g.(?_108098352)_(108124786_?)del
NC_000011.9:g.(?_108098352)_(108128343_?)del
NC_000011.9:g.(?_108098352)_(108129822_?)del
NC_000011.9:g.(?_108098352)_(108159850_?)del
NC_000011.9:g.(?_108098352)_(108164214_?)del
NC_000011.9:g.(?_108098352)_(108196972_?)del
NC_000011.9:g.(?_108098352)_(108206708_?)del
NC_000011.9:g.(?_108098522)_(108105597_?)del
NC_000011.9:g.(?_108098539)_(108099937_?)del
NC_000011.9:g.(?_108099885)_(108225621_?)del
NC_000011.9:g.(?_108101030)_(108121474_?)del
NC_000011.9:g.(?_108106377)_(108236235_?)del
NC_000011.9:g.(?_108111148)_(108117795_?)del
NC_000011.9:g.(?_108113844)_(108175455_?)del
NC_000011.9:g.(?_108114660)_(108181062_?)del
NC_000011.9:g.(?_108114660)_(108236235_?)del
NC_000011.9:g.(?_108114662)_(108114855_?)del
NC_000011.9:g.(?_108114662)_(108115763_?)del
NC_000011.9:g.(?_108114670)_(108164214_?)del
NC_000011.9:g.(?_108117670)_(108118721_?)del
NC_000011.9:g.(?_108119640)_(108122778_?)del
NC_000011.9:g.(?_108124486)_(108225611_?)del
NC_000011.9:g.(?_108137878)_(108236235_?)del
NC_000011.9:g.(?_108137888)_(108142143_?)del
NC_000011.9:g.(?_108137888)_(108155210_?)del
NC_000011.9:g.(?_108137888)_(108196962_?)del
NC_000011.9:g.(?_108137888)_(108218102_?)del
NC_000011.9:g.(?_108141210)_(108143589_?)del
NC_000011.9:g.(?_108141781)_(108158452_?)del
NC_000011.9:g.(?_108141781)_(108236235_?)del
NC_000011.9:g.(?_108142107)_(108149132_?)del
NC_000011.9:g.(?_108150212)_(108216641_?)del
NC_000011.9:g.(?_108151710)_(108160538_?)del
NC_000011.9:g.(?_108151712)_(108183245_?)del
NC_000011.9:g.(?_108151712)_(108236288_?)del
NC_000011.9:g.(?_108153427)_(108160538_?)del
NC_000011.9:g.(?_108153427)_(108236235_?)del
NC_000011.9:g.(?_108154944)_(108155210_?)del
NC_000011.9:g.(?_108155171)_(108204924_?)del
NC_000011.9:g.(?_108156908)_(108160358_?)del
NC_000011.9:g.(?_108156908)_108160358del
NC_000011.9:g.(?_108156909)_(108160359_?)del
NC_000011.9:g.(?_108158168)_(108158452_?)del
NC_000011.9:g.(?_108158168)_(108160538_?)del
NC_000011.9:g.(?_108158168)_(108165796_?)del
NC_000011.9:g.(?_108158168)_(108218112_?)del
NC_000011.9:g.(?_108163326)_(108168129_?)del
NC_000011.9:g.(?_108163336)_(108165796_?)del
NC_000011.9:g.(?_108164020)_(108236235_?)del
NC_000011.9:g.(?_108168008)_(108206694_?)del
NC_000011.9:g.(?_108170431)_(108170622_?)del
NC_000011.9:g.(?_108170431)_(108206698_?)del
NC_000011.9:g.(?_108170564)_(108179827_?)del
NC_000011.9:g.(?_108172365)_(108175589_?)del
NC_000011.9:g.(?_108173570)_(108175589_?)del
NC_000011.9:g.(?_108178604)_(108192167_?)del
NC_000011.9:g.(?_108178614)_(108178721_?)del
NC_000011.9:g.(?_108178614)_(108188258_?)del
NC_000011.9:g.(?_108178618)_(108236241_?)del
NC_000011.9:g.(?_108180877)_(108181052_?)del
NC_000011.9:g.(?_108183089)_(108186850_?)del
NC_000011.9:g.(?_108186540)_(108188258_?)del
NC_000011.9:g.(?_108186540)_(108196281_?)del
NC_000011.9:g.(?_108186540)_(108196962_?)del
NC_000011.9:g.(?_108186540)_(108218102_?)del
NC_000011.9:g.(?_108190671)_(108225611_?)del
NC_000011.9:g.(?_108190675)_(108190791_?)del
NC_000011.9:g.(?_108196027)_(108196281_?)del
NC_000011.9:g.(?_108199738)_(108203637_?)del
NC_000011.9:g.(?_108200931)_(108236235_?)del
NC_000011.9:g.(?_108204603)_(108204705_?)del
NC_000011.9:g.(?_108206562)_(108206698_?)del
NC_000011.9:g.(?_108213939)_(108218102_?)del
NC_000011.9:g.(?_108213939)_(108236235_?)del
NC_000011.9:g.(?_108215207)_(108216339_?)del
NC_000011.9:g.(?_108216450)_(108236235_?)del
NC_000011.9:g.(?_108216460)_(108218102_?)del
NC_000011.9:g.(?_108225528)_(108225611_?)del
NC_000011.9:g.(?_108225592)_(108229424_?)del
NC_000011.9:g.(?_108235810)_108237715del
NC_000011.9:g.108163403_108163404insLINE
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2839-?_4109+?del
NM_000051.3(ATM):c.8269-?_8671+?del
NM_000051.3:c.8844_8845insLINE1
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1008del (p.Arg337fs) rs2079886452
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1036del (p.Ile346fs) rs1565375710
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs) rs2135268548
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1044_1045del (p.Leu348fs) rs2079890365
NM_000051.4(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1054_1055del (p.Ile352fs)
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter) rs1555068615
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1066-2A>G
NM_000051.4(ATM):c.1073dup (p.Asn358fs) rs1591517182
NM_000051.4(ATM):c.1078del (p.Asp360fs) rs2135290302
NM_000051.4(ATM):c.1089del (p.Leu364fs)
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.4(ATM):c.1108dup (p.Tyr370fs)
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer) rs1591517456
NM_000051.4(ATM):c.1111_1115del (p.Thr371fs)
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1124del (p.Arg375fs) rs1555069653
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter) rs1555069657
NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer) rs1555069677
NM_000051.4(ATM):c.1151dup (p.Cys384fs) rs2079995970
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter) rs876660106
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter) rs1025339570
NM_000051.4(ATM):c.1179G>A (p.Trp393Ter) rs876658567
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1189A>T (p.Lys397Ter) rs2079999064
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs) rs2079998938
NM_000051.4(ATM):c.1191del (p.Asp398fs)
NM_000051.4(ATM):c.1210C>T (p.Gln404Ter) rs730881340
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.4(ATM):c.1214del (p.Asn405fs) rs2080001212
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1221dup (p.Asp408Ter) rs1064792998
NM_000051.4(ATM):c.122_123del (p.Lys41fs)
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1236-1G>A rs1408719214
NM_000051.4(ATM):c.1236-1G>C rs1408719214
NM_000051.4(ATM):c.1236-1G>T rs1408719214
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.4(ATM):c.1254_1258del (p.Gln418fs) rs2135316258
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter) rs2135316531
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs) rs1591523010
NM_000051.4(ATM):c.1276del (p.Ser426fs) rs2135316980
NM_000051.4(ATM):c.1280T>A (p.Leu427Ter) rs2135317116
NM_000051.4(ATM):c.1284_1291del (p.Asn429fs) rs863224460
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs) rs1555070694
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1304T>G (p.Leu435Ter) rs1565382166
NM_000051.4(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.4(ATM):c.1320_1321del (p.Gln441fs) rs1555070745
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter) rs1565382267
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter) rs2080097197
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter) rs587782121
NM_000051.4(ATM):c.1348del (p.Glu450fs) rs758004668
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.135dup (p.His46fs) rs1591447147
NM_000051.4(ATM):c.1362T>A (p.Tyr454Ter)
NM_000051.4(ATM):c.1368dup (p.Arg457fs) rs1565382593
NM_000051.4(ATM):c.1378dup (p.Thr460fs) rs2080101851
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs) rs2080103035
NM_000051.4(ATM):c.1406_1413del (p.Arg469fs) rs2135321724
NM_000051.4(ATM):c.1408_1423del (p.Ser470fs) rs2080104347
NM_000051.4(ATM):c.1409C>G (p.Ser470Ter) rs1591523878
NM_000051.4(ATM):c.140C>G (p.Ser47Ter) rs774185390
NM_000051.4(ATM):c.1420_1423delinsTCTGAC (p.Ser475fs) rs2080105212
NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter) rs2080106350
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.4(ATM):c.1438_1442del (p.Leu480fs)
NM_000051.4(ATM):c.1446del (p.Lys482fs) rs1060501670
NM_000051.4(ATM):c.1459del (p.Ile487fs)
NM_000051.4(ATM):c.145del (p.Ser49fs)
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1466_1467del (p.Cys489fs) rs2080108960
NM_000051.4(ATM):c.1467dup (p.Ile490fs) rs1555071002
NM_000051.4(ATM):c.1471dup (p.Thr491fs) rs2080109832
NM_000051.4(ATM):c.1479del (p.Gly494fs)
NM_000051.4(ATM):c.1483dup (p.Ile495fs) rs2135324290
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
NM_000051.4(ATM):c.1491del (p.Glu498fs) rs2135324604
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs) rs1060501529
NM_000051.4(ATM):c.151C>T (p.Gln51Ter) rs786203888
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) rs2135325561
NM_000051.4(ATM):c.1520_1524del (p.Leu507fs) rs2080114187
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1530del (p.Ala510_Ile511insTer) rs2080115284
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter) rs865985297
NM_000051.4(ATM):c.1547T>A (p.Leu516Ter) rs786202195
NM_000051.4(ATM):c.1547_1551del (p.Ser515_Leu516insTer)
NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter) rs2080118610
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1571G>A (p.Trp524Ter) rs2080119161
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter) rs1565383766
NM_000051.4(ATM):c.1578_1579insAA (p.Phe527fs)
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.1607+162A>G
NM_000051.4(ATM):c.1607+1G>A rs772926890
NM_000051.4(ATM):c.1608T>A (p.Cys536Ter)
NM_000051.4(ATM):c.1614_1645del (p.Val539fs) rs2135338847
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer) rs2080164484
NM_000051.4(ATM):c.1635dup (p.Leu546fs) rs2135339476
NM_000051.4(ATM):c.164del (p.Tyr54_Leu55insTer)
NM_000051.4(ATM):c.1653del (p.Pro552fs) rs2080167483
NM_000051.4(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.4(ATM):c.1658del (p.Gly553fs) rs1064796556
NM_000051.4(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.4(ATM):c.1663_1669del (p.Val555fs)
NM_000051.4(ATM):c.1685del (p.Asn562fs)
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.4(ATM):c.1692_1693del (p.Cys564_Glu565delinsTer) rs2080171293
NM_000051.4(ATM):c.1695del (p.Glu565_Val566insTer) rs2135341489
NM_000051.4(ATM):c.1702A>T (p.Arg568Ter) rs876659425
NM_000051.4(ATM):c.1715_1716insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCTTTCTTT (p.Ser571_Leu572insPhePhePhePhePhePhePheXaaXaaXaaXaaTyrMetCysHisAlaGlyAlaLeuHisProLeuMetCysHisLeuAlaLeuGlyIleSerProAsnAlaIleLeuSer)
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter) rs2135342200
NM_000051.4(ATM):c.1724C>G (p.Ser575Ter)
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.4(ATM):c.172del (p.Asp58fs) rs1555054243
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter) rs786201689
NM_000051.4(ATM):c.1740_1741del (p.Leu581fs) rs1131691151
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter) rs2080176523
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.4(ATM):c.1762del (p.Asp588fs) rs2135343498
NM_000051.4(ATM):c.1772dup (p.Asn591fs) rs1591528248
NM_000051.4(ATM):c.1780G>T (p.Glu594Ter) rs2080178937
NM_000051.4(ATM):c.1780_1781del (p.Glu594fs)
NM_000051.4(ATM):c.17_20del (p.Asn6fs)
NM_000051.4(ATM):c.17dup (p.Asn6fs) rs2135004405
NM_000051.4(ATM):c.1800del (p.His600fs)
NM_000051.4(ATM):c.1802+1G>A
NM_000051.4(ATM):c.1803-270T>G
NM_000051.4(ATM):c.1804_1808dup (p.Phe603fs)
NM_000051.4(ATM):c.1838_1839del (p.Val613fs) rs1591530854
NM_000051.4(ATM):c.1838del (p.Val613fs) rs2135353661
NM_000051.4(ATM):c.1838dup (p.Ser614fs) rs1555072492
NM_000051.4(ATM):c.1839_1842del (p.Leu615_Thr616insTer) rs1555072480
NM_000051.4(ATM):c.183del (p.Phe61fs) rs2135014976
NM_000051.4(ATM):c.1840_1841del (p.Leu615fs) rs2135353714
NM_000051.4(ATM):c.1845_1848dup (p.Met617fs) rs2080229346
NM_000051.4(ATM):c.1857del (p.Cys620fs) rs2135354155
NM_000051.4(ATM):c.1858del (p.Cys620fs) rs1565387848
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer) rs2080230745
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter) rs2135354813
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
NM_000051.4(ATM):c.1898+1G>A rs758325274
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1899-1G>A rs1555073065
NM_000051.4(ATM):c.1899-1G>T rs1555073065
NM_000051.4(ATM):c.1899-2A>C
NM_000051.4(ATM):c.1906del (p.His636fs)
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_000051.4(ATM):c.1914del (p.Asp639fs) rs2080292910
NM_000051.4(ATM):c.1914dup (p.Asp639fs) rs2080292910
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.191T>G (p.Leu64Ter) rs1591451354
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.1920dup (p.Glu641fs) rs2080294213
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1930del (p.Ser644fs)
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1937C>A (p.Ser646Ter) rs1591534005
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.1948G>T (p.Glu650Ter)
NM_000051.4(ATM):c.1956_1959del (p.Leu653fs)
NM_000051.4(ATM):c.1966del (p.Thr656fs) rs2135367757
NM_000051.4(ATM):c.196A>T (p.Lys66Ter) rs1565346656
NM_000051.4(ATM):c.1978del (p.Met660fs)
NM_000051.4(ATM):c.1988dup (p.Leu663fs)
NM_000051.4(ATM):c.198dup (p.Tyr67fs) rs2135033137
NM_000051.4(ATM):c.1992dup (p.Ile665fs) rs2135368545
NM_000051.4(ATM):c.1995del (p.Ile665fs) rs1591534382
NM_000051.4(ATM):c.1997del (p.Val666fs) rs2080303837
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2019del (p.Lys673fs) rs1591534511
NM_000051.4(ATM):c.2023del (p.Gln675fs)
NM_000051.4(ATM):c.2032del (p.Ile678fs) rs2135369537
NM_000051.4(ATM):c.2044_2057del (p.Val682fs) rs2135369731
NM_000051.4(ATM):c.2059_2065del (p.Lys687fs)
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter) rs769338089
NM_000051.4(ATM):c.2064del (p.Glu688fs)
NM_000051.4(ATM):c.2086G>T (p.Gly696Ter) rs879254178
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter) rs1591534936
NM_000051.4(ATM):c.2093C>G (p.Ser698Ter) rs2135371158
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2111_2114del (p.Asn704fs) rs2080316641
NM_000051.4(ATM):c.2113_2116del (p.Tyr705fs) rs2135371753
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter) rs2080317430
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter) rs876659149
NM_000051.4(ATM):c.2116_2117del (p.Ser706fs) rs1591535064
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs) rs1555073529
NM_000051.4(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.4(ATM):c.2134del (p.Ser712fs) rs1591541888
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2152dup (p.Cys718fs) rs2135392702
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.2170_2200del (p.Val723_Gly724insTer)
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.217del (p.Glu73fs)
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.4(ATM):c.2193del (p.Cys730_Tyr731insTer) rs2080479088
NM_000051.4(ATM):c.2195dup (p.Met732fs) rs1555074971
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.4(ATM):c.2200dup (p.Val734fs)
NM_000051.4(ATM):c.2201_2202insC (p.Ile735fs) rs1459299108
NM_000051.4(ATM):c.2205_2208del (p.Ile735fs) rs2135394014
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter) rs1057524111
NM_000051.4(ATM):c.2228C>G (p.Ser743Ter) rs2080482247
NM_000051.4(ATM):c.2239C>T (p.Gln747Ter) rs2080483369
NM_000051.4(ATM):c.2247del (p.Lys750fs)
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2250+2T>C rs1555075037
NM_000051.4(ATM):c.2251-1G>C rs876659710
NM_000051.4(ATM):c.2251-2A>G rs2135405559
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)
NM_000051.4(ATM):c.2262del (p.Gln754fs) rs2080573967
NM_000051.4(ATM):c.2270del (p.Gly757fs) rs1565397022
NM_000051.4(ATM):c.2272G>T (p.Glu758Ter) rs1555075658
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.4(ATM):c.2289_2295del (p.Phe763fs) rs1555075690
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.4(ATM):c.229dup (p.Ile77fs) rs1565346867
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs) rs1565397179
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs) rs2080577927
NM_000051.4(ATM):c.2308G>T (p.Glu770Ter) rs1555075721
NM_000051.4(ATM):c.2329A>T (p.Arg777Ter) rs1565397263
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter) rs1555075781
NM_000051.4(ATM):c.2345dup (p.Cys783fs) rs1591546645
NM_000051.4(ATM):c.2363_2364del (p.Ser788fs) rs2080584788
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2408del (p.Phe803fs)
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
NM_000051.4(ATM):c.2426del (p.Thr808_Ser809insTer) rs2135421629
NM_000051.4(ATM):c.2429del (p.Lys810fs)
NM_000051.4(ATM):c.2432del (p.Leu811fs) rs2135421772
NM_000051.4(ATM):c.2438del (p.Asn813fs) rs2135421887
NM_000051.4(ATM):c.2441del (p.Asp814fs) rs1565400045
NM_000051.4(ATM):c.2464_2465dup (p.Leu822fs) rs2135422402
NM_000051.4(ATM):c.2464_2466+2del rs2135422352
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2465T>G (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2465dup (p.Leu822fs)
NM_000051.4(ATM):c.2466+1G>A rs914092098
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.2484del (p.Lys828fs)
NM_000051.4(ATM):c.2487dup (p.Phe830fs) rs2135505571
NM_000051.4(ATM):c.248del (p.Val82_Ser83insTer) rs2135035121
NM_000051.4(ATM):c.2494dup (p.Arg832fs) rs1131691165
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.4(ATM):c.2502del (p.Glu834_Val835insTer)
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer) rs2081303007
NM_000051.4(ATM):c.2508dup (p.Ser837fs) rs770396940
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter) rs2081303434
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2524dup (p.Thr842fs) rs1555082160
NM_000051.4(ATM):c.2534del (p.Asn845fs) rs1591587673
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter) rs587782280
NM_000051.4(ATM):c.2553_2638+61del rs2135507457
NM_000051.4(ATM):c.2554dup (p.Gln852fs)
NM_000051.4(ATM):c.2564dup (p.Met855fs) rs730881299
NM_000051.4(ATM):c.2566_2569dup (p.Leu857fs) rs2135507893
NM_000051.4(ATM):c.2567dup (p.Asn856fs)
NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer) rs1555082257
NM_000051.4(ATM):c.2572_2573insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe858delinsTrpIleSerHisProTer)
NM_000051.4(ATM):c.2572_2575del (p.Phe858fs) rs1131691148
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.2579del (p.Asp860fs)
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.4(ATM):c.2583C>G (p.Tyr861Ter)
NM_000051.4(ATM):c.2585del (p.Pro862fs)
NM_000051.4(ATM):c.2601_2602dup (p.Asp868fs) rs2135508789
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.4(ATM):c.2613dup (p.Pro872fs) rs1591588646
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter) rs1565416901
NM_000051.4(ATM):c.2626C>T (p.Gln876Ter) rs2135509419
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2638+304C>A
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.2643dup (p.Ile882fs)
NM_000051.4(ATM):c.2654T>G (p.Leu885Ter) rs1555083096
NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer) rs1060501679
NM_000051.4(ATM):c.2665dup (p.Tyr889fs) rs2135523450
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter) rs2081381578
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter) rs1555083131
NM_000051.4(ATM):c.2686_2689del (p.Leu896fs)
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter) rs770610463
NM_000051.4(ATM):c.2700dup (p.Leu901fs) rs1555083198
NM_000051.4(ATM):c.2717del (p.Leu906fs)
NM_000051.4(ATM):c.271C>T (p.Gln91Ter) rs2078888769
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) rs786202695
NM_000051.4(ATM):c.2720del (p.Cys907fs) rs2135524751
NM_000051.4(ATM):c.2727del (p.Thr910fs) rs1555083267
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter) rs764409952
NM_000051.4(ATM):c.2749dup (p.Ser917fs) rs1555083315
NM_000051.4(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.4(ATM):c.2758del (p.Ala920fs) rs2081389278
NM_000051.4(ATM):c.2775del (p.Lys926fs) rs1060501702
NM_000051.4(ATM):c.2778_2779del (p.Lys926fs)
NM_000051.4(ATM):c.2783del (p.Leu927_Leu928insTer)
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2817del (p.Lys940fs) rs1555083435
NM_000051.4(ATM):c.2838+1del rs2081397580
NM_000051.4(ATM):c.2839-1G>A rs995271490
NM_000051.4(ATM):c.2839-1_2839del rs2135547229
NM_000051.4(ATM):c.2839-2A>C rs1060501703
NM_000051.4(ATM):c.2839-2A>G rs1060501703
NM_000051.4(ATM):c.2839-2A>T rs1060501703
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2840dup (p.Tyr947Ter) rs1308599194
NM_000051.4(ATM):c.2867del (p.Gly956fs) rs2135547839
NM_000051.4(ATM):c.2877C>A (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2890del (p.Glu964fs)
NM_000051.4(ATM):c.2899del (p.Glu968fs)
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.2902G>T (p.Glu968Ter) rs1555084723
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs) rs587781656
NM_000051.4(ATM):c.2917del (p.Leu973fs)
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2921+2T>G rs2135549026
NM_000051.4(ATM):c.2922-1G>A rs1555084931
NM_000051.4(ATM):c.2922-50_2938del rs1555084836
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs) rs1555084947
NM_000051.4(ATM):c.2938del (p.Tyr980fs) rs1565425118
NM_000051.4(ATM):c.2940T>A (p.Tyr980Ter) rs748119565
NM_000051.4(ATM):c.2950C>T (p.Gln984Ter)
NM_000051.4(ATM):c.2953_2954dup (p.Asp985fs) rs2135552095
NM_000051.4(ATM):c.2956del (p.Val986fs) rs2135552199
NM_000051.4(ATM):c.2962A>T (p.Lys988Ter) rs772327699
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)
NM_000051.4(ATM):c.296del (p.Ser99fs)
NM_000051.4(ATM):c.2972del (p.Ile990_Leu991insTer) rs2135552505
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer) rs1060501600
NM_000051.4(ATM):c.2990del (p.Val997fs) rs2135552978
NM_000051.4(ATM):c.2994dup (p.Lys999fs) rs2135553051
NM_000051.4(ATM):c.2999del (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.299T>A (p.Leu100Ter) rs761936549
NM_000051.4(ATM):c.3007C>T (p.Gln1003Ter) rs1555085143
NM_000051.4(ATM):c.3019_3025del (p.Asp1007fs)
NM_000051.4(ATM):c.3023_3024del (p.Asp1007_Ser1008insTer) rs2135553733
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs) rs2135553856
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs) rs1555085172
NM_000051.4(ATM):c.3024_3031del (p.Glu1009fs)
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.4(ATM):c.3032del (p.Thr1011fs) rs2135554073
NM_000051.4(ATM):c.3034dup (p.Arg1012fs) rs2135554107
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.4(ATM):c.3044_3045del (p.Gln1015fs) rs1555085217
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3054del (p.Thr1020fs) rs2135554539
NM_000051.4(ATM):c.3075_3077+23del
NM_000051.4(ATM):c.3076del (p.Trp1026fs) rs2135554957
NM_000051.4(ATM):c.3077+1G>T rs192810283
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter) rs587782103
NM_000051.4(ATM):c.3078-2A>C rs2135564916
NM_000051.4(ATM):c.3078-2A>G
NM_000051.4(ATM):c.3078G>A (p.Trp1026Ter) rs876660869
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3086_3090del (p.Thr1029fs) rs2135565205
NM_000051.4(ATM):c.3091del (p.Glu1031fs) rs2135565314
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.4(ATM):c.3105_3106del (p.Phe1036fs) rs2081640268
NM_000051.4(ATM):c.3105_3106dup (p.Phe1036fs) rs2081640268
NM_000051.4(ATM):c.3112_3113del (p.Val1038fs) rs2135565843
NM_000051.4(ATM):c.311del (p.Phe104fs) rs1555055309
NM_000051.4(ATM):c.3124del (p.Ala1041_Leu1042insTer)
NM_000051.4(ATM):c.3131del (p.Asn1044fs)
NM_000051.4(ATM):c.3142del (p.Thr1048fs) rs2135566568
NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs) rs1565427961
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.3154-2A>T rs730881357
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter) rs1565428419
NM_000051.4(ATM):c.3171del (p.Lys1057fs)
NM_000051.4(ATM):c.3171dup (p.Trp1058fs) rs2135570105
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
NM_000051.4(ATM):c.3174G>A (p.Trp1058Ter) rs1064796080
NM_000051.4(ATM):c.3181del (p.Asn1062fs) rs2081660777
NM_000051.4(ATM):c.3188_3192del (p.Val1063fs) rs2135570486
NM_000051.4(ATM):c.3188dup (p.Met1064fs) rs2135570632
NM_000051.4(ATM):c.318del (p.Lys106fs) rs1591452378
NM_000051.4(ATM):c.318dup (p.Cys107fs) rs1591452378
NM_000051.4(ATM):c.3198del (p.Asp1067fs)
NM_000051.4(ATM):c.3203_3204del (p.Phe1068fs) rs2135571055
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3213del (p.Asn1071fs) rs2135571395
NM_000051.4(ATM):c.3214del (p.Glu1072fs)
NM_000051.4(ATM):c.3216del (p.Val1073fs) rs2135571457
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.4(ATM):c.3226C>T (p.Gln1076Ter)
NM_000051.4(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs) rs761486324
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter) rs1386063673
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.4(ATM):c.325_326del (p.Asn109fs) rs2135038488
NM_000051.4(ATM):c.3261del (p.Met1087fs) rs1565429054
NM_000051.4(ATM):c.326dup (p.Asn109fs) rs2135038488
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs) rs1565429102
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter) rs774197372
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter) rs1131691155
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs) rs879254281
NM_000051.4(ATM):c.3281del (p.Asn1094fs) rs776516754
NM_000051.4(ATM):c.3284+1del
NM_000051.4(ATM):c.3285-2A>G rs1591631876
NM_000051.4(ATM):c.3285-2_3285-1insAAAAAAAAAAAAAAAAAAAAAAAA rs2135642194
NM_000051.4(ATM):c.3285-2_3296dup rs1591631866
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter) rs773964990
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.3297del (p.Asp1099fs) rs2082115419
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+2T>G rs1555055358
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.331+5G>C
NM_000051.4(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3335del (p.Pro1112fs) rs876660031
NM_000051.4(ATM):c.3338T>A (p.Leu1113Ter) rs1591632166
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter) rs2135644009
NM_000051.4(ATM):c.3346del (p.Gln1116fs)
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter) rs786201957
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3352del (p.Thr1118fs) rs2082120435
NM_000051.4(ATM):c.3366del (p.Asn1122fs)
NM_000051.4(ATM):c.3369del (p.Tyr1124fs) rs587781752
NM_000051.4(ATM):c.3376_3377insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA (p.Lys1126delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2135644510
NM_000051.4(ATM):c.3376_3377insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA (p.Lys1126fs) rs2135644510
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter) rs876659825
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter) rs587781911
NM_000051.4(ATM):c.3397G>T (p.Glu1133Ter)
NM_000051.4(ATM):c.3402+3A>C rs786203688
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
NM_000051.4(ATM):c.3431del (p.Leu1144fs) rs1555091158
NM_000051.4(ATM):c.3434dup (p.Asp1145fs)
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter) rs1565441511
NM_000051.4(ATM):c.3442del (p.Tyr1148fs) rs2135666319
NM_000051.4(ATM):c.3447del (p.Asn1149fs) rs2135666442
NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter) rs786201209
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs) rs1060501676
NM_000051.4(ATM):c.3453dup (p.Ser1152fs) rs2135666539
NM_000051.4(ATM):c.3455_3456del (p.Ser1152fs) rs2135666711
NM_000051.4(ATM):c.3461T>A (p.Leu1154Ter) rs2135666960
NM_000051.4(ATM):c.3470T>A (p.Leu1157Ter)
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3485del (p.Leu1162fs) rs2082207948
NM_000051.4(ATM):c.3489dup (p.Cys1164fs) rs2082208208
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.4(ATM):c.3511_3512dup (p.Gln1171fs) rs1555091302
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs) rs1394502687
NM_000051.4(ATM):c.3523del (p.Ala1175fs) rs2135669053
NM_000051.4(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.4(ATM):c.3527del (p.Leu1176fs) rs2135669236
NM_000051.4(ATM):c.352C>T (p.Gln118Ter) rs2079235532
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter) rs1555091359
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs) rs1555091367
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs) rs768356403
NM_000051.4(ATM):c.3550G>T (p.Gly1184Ter) rs1555091402
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.4(ATM):c.3577-9_3583del rs1555092219
NM_000051.4(ATM):c.357dup (p.Leu120fs) rs1591474530
NM_000051.4(ATM):c.3587_3588del (p.Lys1196fs)
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer) rs1555092297
NM_000051.4(ATM):c.3613_3614insTTTATGTTTAGAA (p.Arg1205delinsLeuTyrValTer)
NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)
NM_000051.4(ATM):c.3617_3620del (p.Arg1205_Leu1206insTer) rs2135687676
NM_000051.4(ATM):c.3617dup (p.Leu1206fs) rs2082297073
NM_000051.4(ATM):c.3625_3626insCTCA (p.Phe1209fs) rs2135688037
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3626_3628delinsCTCATTAGAGAGTCTCATTAGATTATC (p.Phe1209_Met1210delinsSerHisTer)
NM_000051.4(ATM):c.3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.362T>A (p.Leu121Ter) rs771342315
NM_000051.4(ATM):c.3648del (p.Leu1217fs) rs2135688794
NM_000051.4(ATM):c.365del (p.Asn122fs)
NM_000051.4(ATM):c.3664_3666delinsAT (p.Leu1222fs)
NM_000051.4(ATM):c.3669_3670insTAG (p.Leu1224Ter) rs2082301397
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.4(ATM):c.3682G>T (p.Glu1228Ter) rs1334793787
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter) rs2082303743
NM_000051.4(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.4(ATM):c.3691_3692del (p.Leu1231fs)
NM_000051.4(ATM):c.3692_3716del (p.Asn1230_Leu1231insTer) rs2082304563
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs) rs1555092477
NM_000051.4(ATM):c.3693del (p.Leu1231fs)
NM_000051.4(ATM):c.3695_3713del (p.Ser1232fs)
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs) rs2082305146
NM_000051.4(ATM):c.36C>A (p.Cys12Ter)
NM_000051.4(ATM):c.3704_3708del (p.Pro1235fs) rs2135690451
NM_000051.4(ATM):c.370_374del (p.Ile124fs) rs2079237399
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3716_3717insTCCTTTTATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCT (p.Leu1239delinsPheProPheIleLeuPhePhePhePhePhePheXaaXaaXaaXaaSerAsnPheIleHisValProThrLysAspMetAsnSerSerPhePheMetAlaAlaTer) rs2135690630
NM_000051.4(ATM):c.3721_3722del (p.Tyr1241fs) rs2135690723
NM_000051.4(ATM):c.3728dup (p.Asn1243fs)
NM_000051.4(ATM):c.3732del (p.Ile1244fs)
NM_000051.4(ATM):c.3733G>T (p.Glu1245Ter) rs2082308153
NM_000051.4(ATM):c.3735_3742dup (p.Tyr1248fs)
NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)
NM_000051.4(ATM):c.3746+1G>A rs2082309297
NM_000051.4(ATM):c.3746+5G>A rs876658419
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756T>G (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs) rs1555093289
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs) rs2135704536
NM_000051.4(ATM):c.3760del (p.Val1254fs) rs786203507
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter) rs2082374257
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.3771dup (p.His1258fs)
NM_000051.4(ATM):c.3783del (p.Arg1262fs) rs2082375533
NM_000051.4(ATM):c.3784A>T (p.Arg1262Ter) rs1591645509
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer) rs2135122447
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.4(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.4(ATM):c.3843TCT[1] (p.Leu1283del)
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.3858C>A (p.Cys1286Ter) rs2082381612
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter) rs1131691160
NM_000051.4(ATM):c.3866del (p.Lys1289fs)
NM_000051.4(ATM):c.3868_3884del (p.Ile1290fs) rs2082382004
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
NM_000051.4(ATM):c.3891T>A (p.Tyr1297Ter)
NM_000051.4(ATM):c.3891T>G (p.Tyr1297Ter)
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.3895del (p.Ala1299fs) rs786203501
NM_000051.4(ATM):c.3900T>G (p.Tyr1300Ter)
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs) rs2135708324
NM_000051.4(ATM):c.391dup (p.Ser131fs) rs2079239543
NM_000051.4(ATM):c.392C>A (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter) rs200976093
NM_000051.4(ATM):c.3933_3934del (p.Glu1313fs) rs2082385904
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.3955_3958dup (p.Asp1320delinsValTer) rs1591646379
NM_000051.4(ATM):c.3964dup (p.Leu1322fs) rs2135709622
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.3987_3993+1del rs2135710049
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter) rs2082389962
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3993+2T>C rs2135710273
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.4000_4006del (p.His1334fs) rs2135735093
NM_000051.4(ATM):c.4003_4004del (p.Leu1335fs)
NM_000051.4(ATM):c.4004T>A (p.Leu1335Ter) rs2082558148
NM_000051.4(ATM):c.4004dup (p.Leu1335fs)
NM_000051.4(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.4(ATM):c.4007dup (p.Ile1337fs) rs1555095841
NM_000051.4(ATM):c.4011del (p.Ser1338fs) rs1591655633
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter) rs2082559544
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4023del (p.Glu1342fs)
NM_000051.4(ATM):c.4028_4034del (p.Ile1343fs) rs2135735834
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter) rs1060501528
NM_000051.4(ATM):c.403del (p.Ala135fs) rs2135123204
NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter) rs1565452621
NM_000051.4(ATM):c.4052T>A (p.Leu1351Ter) rs1565452687
NM_000051.4(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.4(ATM):c.4056_4065del (p.His1352fs) rs1555095955
NM_000051.4(ATM):c.4080_4083del (p.Ser1360fs)
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter) rs121434222
NM_000051.4(ATM):c.4087del (p.Thr1363fs) rs1555096035
NM_000051.4(ATM):c.4093del (p.Leu1365fs) rs2135737651
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.40C>T (p.Gln14Ter)
NM_000051.4(ATM):c.4101del (p.Ser1369fs) rs1565453029
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4105del (p.Ser1369fs)
NM_000051.4(ATM):c.4107del (p.Asp1371fs)
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4110-1G>C rs1060501692
NM_000051.4(ATM):c.4110-2A>G rs2135750262
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4115del (p.Leu1372fs) rs2082638431
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000051.4(ATM):c.4125del (p.Pro1376fs)
NM_000051.4(ATM):c.4133del (p.Pro1378fs) rs2135751048
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4158_4175delinsC (p.Lys1387fs) rs2082642299
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
NM_000051.4(ATM):c.4173del (p.Tyr1392fs)
NM_000051.4(ATM):c.4188_4189del (p.Cys1396_His1397delinsTer) rs2135752682
NM_000051.4(ATM):c.4189dup (p.His1397fs) rs2082644891
NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter) rs1555096975
NM_000051.4(ATM):c.4214del (p.Ile1404_Leu1405insTer) rs2082646632
NM_000051.4(ATM):c.4222_4236+5del rs2135753552
NM_000051.4(ATM):c.4225del (p.Ser1409fs) rs2082647388
NM_000051.4(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.4(ATM):c.422dup (p.Cys141fs) rs2079242252
NM_000051.4(ATM):c.4231del (p.Ser1411fs)
NM_000051.4(ATM):c.4236del (p.Asp1413fs) rs1565455297
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs) rs1591662606
NM_000051.4(ATM):c.4270G>T (p.Glu1424Ter)
NM_000051.4(ATM):c.4280del (p.Ala1427fs) rs1591662758
NM_000051.4(ATM):c.4282del (p.Glu1428fs) rs2082672268
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter) rs876660964
NM_000051.4(ATM):c.4303_4304insTT (p.Lys1435fs) rs2082673829
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4325dup (p.Tyr1442Ter) rs2135762072
NM_000051.4(ATM):c.4326T>A (p.Tyr1442Ter)
NM_000051.4(ATM):c.432del (p.Leu145fs) rs1555059333
NM_000051.4(ATM):c.432dup (p.Leu145fs) rs1555059330
NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer) rs1064792938
NM_000051.4(ATM):c.4332del (p.Phe1445fs) rs2135762420
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs) rs2135762355
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs) rs1591663236
NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter) rs1591663285
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter) rs1591663285
NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs) rs1565456465
NM_000051.4(ATM):c.4344dup (p.Leu1449fs) rs1555097604
NM_000051.4(ATM):c.434_444del (p.Leu145fs)
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4363del (p.Ser1455fs) rs1591663478
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter) rs1294578913
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.4(ATM):c.4402_4403delinsA (p.Val1468fs) rs1591663850
NM_000051.4(ATM):c.440_443dup (p.Asp148fs)
NM_000051.4(ATM):c.4413_4431del (p.Leu1472fs)
NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter) rs772555314
NM_000051.4(ATM):c.441dup (p.Asp148fs) rs1427164968
NM_000051.4(ATM):c.4430dup (p.Asn1477fs)
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4436+1G>A rs1555097894
NM_000051.4(ATM):c.4436+2T>C rs1555097898
NM_000051.4(ATM):c.4445del (p.Cys1482fs)
NM_000051.4(ATM):c.444_450del (p.Ile149fs) rs2079244120
NM_000051.4(ATM):c.4450_4451del (p.Met1484fs) rs1565460896
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4452_4462del (p.Met1484fs)
NM_000051.4(ATM):c.4458_4459del (p.Ser1487fs) rs2135797740
NM_000051.4(ATM):c.4461_4464del (p.Leu1488fs)
NM_000051.4(ATM):c.4466_4467insAG (p.Ser1490fs) rs2135798107
NM_000051.4(ATM):c.4467del (p.Ser1490fs) rs2135798153
NM_000051.4(ATM):c.4483del (p.Cys1495fs) rs2135798648
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter) rs1329359780
NM_000051.4(ATM):c.4493_4494insSVAelement rs2082862502
NM_000051.4(ATM):c.4493_4494insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTTCTGTTGTGACTTATT (p.Leu1498delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuValArgTer)
NM_000051.4(ATM):c.4497_4519dup (p.Thr1507delinsIleArgPheAlaArgGlnProTer) rs2135799107
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4517_4518insCTTACTTACTTAAGGATGCT (p.Val1506_Thr1507insLeuLeuThrTer) rs2135799845
NM_000051.4(ATM):c.451_452insSVAelement rs2079244988
NM_000051.4(ATM):c.4522dup (p.Tyr1508fs) rs1555099888
NM_000051.4(ATM):c.4523dup (p.Tyr1508Ter) rs2135800044
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter) rs1555099892
NM_000051.4(ATM):c.4544dup (p.Asn1515fs) rs2082867555
NM_000051.4(ATM):c.4552_4556del (p.His1518fs) rs2082868647
NM_000051.4(ATM):c.4555del (p.Val1519fs) rs2135801094
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs) rs1591674707
NM_000051.4(ATM):c.4579del (p.Val1528fs) rs1565461674
NM_000051.4(ATM):c.4584_4585del (p.Val1528_Tyr1529insTer) rs2135802014
NM_000051.4(ATM):c.4587T>A (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4603C>T (p.Gln1535Ter) rs771549673
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter) rs1555100037
NM_000051.4(ATM):c.4610_4611del (p.Gln1537fs)
NM_000051.4(ATM):c.4622del (p.Leu1541fs) rs2135809766
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.4626_4632del (p.Leu1542fs) rs2135810015
NM_000051.4(ATM):c.4632C>A (p.Tyr1544Ter)
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.4653_4672dup (p.Thr1558fs) rs2082915385
NM_000051.4(ATM):c.465C>G (p.Tyr155Ter)
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter) rs766438805
NM_000051.4(ATM):c.4669del (p.Ile1557fs) rs1591677254
NM_000051.4(ATM):c.467G>A (p.Trp156Ter) rs876658159
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs) rs886039515
NM_000051.4(ATM):c.4685del (p.Leu1561_Leu1562insTer)
NM_000051.4(ATM):c.468G>A (p.Trp156Ter) rs1591475457
NM_000051.4(ATM):c.468del (p.Trp156fs) rs2079245902
NM_000051.4(ATM):c.46G>T (p.Glu16Ter)
NM_000051.4(ATM):c.4728del (p.Thr1577fs)
NM_000051.4(ATM):c.4730_4733del (p.Thr1577fs)
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4749C>A (p.Tyr1583Ter)
NM_000051.4(ATM):c.4758_4759del (p.Pro1587fs)
NM_000051.4(ATM):c.475del (p.Ile159fs) rs1555059464
NM_000051.4(ATM):c.4761dup (p.Phe1588fs) rs1591677757
NM_000051.4(ATM):c.4766_4772del (p.Ser1589fs)
NM_000051.4(ATM):c.4774del (p.Glu1592fs) rs2135814096
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.4775A>T (p.Glu1592Val)
NM_000051.4(ATM):c.4776+1G>A
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.4777-2A>G
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4798del (p.Ser1599_Val1600insTer) rs2135834179
NM_000051.4(ATM):c.4799dup (p.Ser1601fs) rs2135834235
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs) rs1060501659
NM_000051.4(ATM):c.4801del (p.Ser1601fs)
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4840del (p.Gly1613_Leu1614insTer) rs2083039160
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.4(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.4(ATM):c.484C>T (p.Gln162Ter) rs1565357383
NM_000051.4(ATM):c.4858C>T (p.Gln1620Ter)
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)
NM_000051.4(ATM):c.4864del (p.Glu1622fs) rs2083042256
NM_000051.4(ATM):c.486del (p.Gln162fs) rs2079247626
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.487C>T (p.Gln163Ter) rs1591475608
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter) rs1060501627
NM_000051.4(ATM):c.4909+1G>T rs756987454
NM_000051.4(ATM):c.4910-362_4960delinsCCACAGTGTTGGATAAC rs2135857103
NM_000051.4(ATM):c.4918C>T (p.Gln1640Ter)
NM_000051.4(ATM):c.491G>A (p.Trp164Ter)
NM_000051.4(ATM):c.4929del (p.Met1644fs) rs2083175858
NM_000051.4(ATM):c.492G>A (p.Trp164Ter) rs1555059530
NM_000051.4(ATM):c.492dup (p.Leu165fs) rs1555059513
NM_000051.4(ATM):c.4933del (p.Met1644_Val1645insTer) rs2135861869
NM_000051.4(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.4(ATM):c.494T>G (p.Leu165Ter) rs2079249238
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter) rs1565469955
NM_000051.4(ATM):c.4957_4958del (p.Gln1653fs) rs2135862582
NM_000051.4(ATM):c.4958_4959insTAAC (p.Gln1653fs) rs2083178407
NM_000051.4(ATM):c.495dup (p.Glu166fs)
NM_000051.4(ATM):c.496G>C (p.Glu166Gln) rs1565357473
NM_000051.4(ATM):c.496G>T (p.Glu166Ter) rs1565357473
NM_000051.4(ATM):c.497-3528_663-121del
NM_000051.4(ATM):c.4988del (p.Gly1663fs) rs1565470139
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter) rs1555103301
NM_000051.4(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.4(ATM):c.5028del (p.Glu1677fs)
NM_000051.4(ATM):c.503del (p.Phe168fs) rs2135221867
NM_000051.4(ATM):c.5048_5052del (p.Phe1683fs) rs2135889257
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.4(ATM):c.5070del (p.His1690fs) rs2083325659
NM_000051.4(ATM):c.5073_5074dup (p.Lys1692fs) rs2083326327
NM_000051.4(ATM):c.5076del (p.Asp1693fs) rs1591702340
NM_000051.4(ATM):c.5088T>G (p.Tyr1696Ter) rs786203476
NM_000051.4(ATM):c.50_51del (p.His17fs) rs775561876
NM_000051.4(ATM):c.5100dup (p.Lys1701Ter) rs2135890847
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs) rs1555104693
NM_000051.4(ATM):c.510_511del (p.Tyr171fs) rs1591499665
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter) rs1591702911
NM_000051.4(ATM):c.5156del (p.Asn1719fs) rs1591702951
NM_000051.4(ATM):c.5167del (p.Leu1722_Val1723insTer) rs2135893101
NM_000051.4(ATM):c.5172dup (p.Asp1725fs) rs2135893222
NM_000051.4(ATM):c.5177+1G>A rs1131691159
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-2A>C
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter) rs886039627
NM_000051.4(ATM):c.519_520insTG (p.Leu174fs)
NM_000051.4(ATM):c.5200del (p.Val1734fs) rs2135912272
NM_000051.4(ATM):c.5201_5202insAT (p.Thr1735fs) rs730881305
NM_000051.4(ATM):c.5209_5210del (p.Leu1737fs) rs1555105660
NM_000051.4(ATM):c.5217_5231del (p.Asn1739_Thr1743del) rs2135912726
NM_000051.4(ATM):c.5218_5225dup (p.Ala1742_Thr1743insPheTer)
NM_000051.4(ATM):c.5249G>A (p.Trp1750Ter) rs1060501669
NM_000051.4(ATM):c.5255_5256insCT (p.Tyr1753fs) rs2083441908
NM_000051.4(ATM):c.5257del (p.Tyr1753fs)
NM_000051.4(ATM):c.5279dup (p.Met1760fs) rs2135914599
NM_000051.4(ATM):c.5286_5293del (p.Tyr1763fs) rs1591709001
NM_000051.4(ATM):c.5287_5288insTTTAGAACATCAAGAAAAAACTACATCAAGAACATCAAGAAC (p.Tyr1763delinsPheTer)
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs) rs2135914733
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5314A>T (p.Lys1772Ter)
NM_000051.4(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.4(ATM):c.5318dup (p.Phe1774fs) rs876660289
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer) rs2083496327
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5346dup (p.Glu1783fs) rs2135927478
NM_000051.4(ATM):c.5347_5348dup (p.Asn1784fs)
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs) rs2135927504
NM_000051.4(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.4(ATM):c.5357_5358dup (p.Glu1787fs)
NM_000051.4(ATM):c.5382del (p.Trp1795fs)
NM_000051.4(ATM):c.5383_5384del (p.Trp1795fs) rs1474055596
NM_000051.4(ATM):c.5385G>A (p.Trp1795Ter)
NM_000051.4(ATM):c.5385del (p.Leu1794_Trp1795insTer)
NM_000051.4(ATM):c.5395dup (p.Ser1799fs) rs1591712447
NM_000051.4(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.4(ATM):c.5402del (p.Asn1801fs) rs1555106438
NM_000051.4(ATM):c.5405dup (p.His1802fs) rs1555106452
NM_000051.4(ATM):c.540del (p.Asp181fs) rs1565369355
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.5430_5431del (p.Ala1812fs) rs2135929688
NM_000051.4(ATM):c.5441dup (p.Leu1814fs) rs1555106508
NM_000051.4(ATM):c.5443del (p.Asp1815fs) rs878853522
NM_000051.4(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter) rs1555106553
NM_000051.4(ATM):c.5496+645T>G
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.5499_5509del (p.Lys1834fs)
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5511_5587dup (p.Ser1863delinsPheValArgLeuTyrPheHisThrTer)
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5516dup (p.Thr1840fs) rs879254242
NM_000051.4(ATM):c.5521_5522del (p.Val1841fs) rs1555107293
NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter) rs2135943149
NM_000051.4(ATM):c.5549T>A (p.Leu1850Ter) rs878853525
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5549dup (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5554dup (p.Gln1852fs) rs1555107356
NM_000051.4(ATM):c.5561del (p.Thr1854fs)
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5574G>A (p.Trp1858Ter) rs2135944112
NM_000051.4(ATM):c.557T>G (p.Leu186Ter) rs1555066388
NM_000051.4(ATM):c.5594_5595del (p.His1865fs) rs1555107450
NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)
NM_000051.4(ATM):c.5609dup (p.Thr1871fs) rs2083601046
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
NM_000051.4(ATM):c.5626_5641del (p.His1876fs)
NM_000051.4(ATM):c.5630_5639del (p.His1876_Phe1877insTer)
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5637_5638del (p.Gln1879fs)
NM_000051.4(ATM):c.5649del (p.Thr1884fs) rs2083605298
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5653dup (p.Thr1885fs) rs587778077
NM_000051.4(ATM):c.5657del (p.Pro1886fs) rs2135946188
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5677_5680del (p.Glu1894fs) rs2135975673
NM_000051.4(ATM):c.5678C>A (p.Ser1893Ter)
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs) rs1060501580
NM_000051.4(ATM):c.5690del (p.Phe1897fs) rs1591731851
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.4(ATM):c.5706del (p.Asp1902fs)
NM_000051.4(ATM):c.5706dup (p.Lys1903Ter)
NM_000051.4(ATM):c.5710A>T (p.Lys1904Ter)
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5714C>G (p.Ser1905Ter)
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter) rs2135976898
NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs) rs1555109102
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs) rs1591732123
NM_000051.4(ATM):c.5723del (p.Thr1908fs) rs2135977126
NM_000051.4(ATM):c.5736dup (p.Val1913fs) rs2135977494
NM_000051.4(ATM):c.5737_5743del (p.Val1913fs) rs2135977542
NM_000051.4(ATM):c.5741del (p.Asp1914fs) rs2083821626
NM_000051.4(ATM):c.5745C>A (p.Tyr1915Ter)
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer) rs1555109147
NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter) rs2083823146
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs) rs1591732424
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.587_602del (p.Lys196fs) rs2135224893
NM_000051.4(ATM):c.597T>A (p.Cys199Ter) rs1565369633
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer) rs876658548
NM_000051.4(ATM):c.606_615dup (p.Asn206Ter)
NM_000051.4(ATM):c.607del (p.Asp203fs) rs2135225618
NM_000051.4(ATM):c.610G>T (p.Gly204Ter) rs147915571
NM_000051.4(ATM):c.614T>G (p.Leu205Ter) rs2079705608
NM_000051.4(ATM):c.621del (p.Lys208fs) rs2079706212
NM_000051.4(ATM):c.622A>T (p.Lys208Ter)
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.640dup (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.642del (p.Lys215fs) rs876660315
NM_000051.4(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.666del (p.Glu223fs) rs2135236778
NM_000051.4(ATM):c.66del (p.Glu22fs) rs2135006691
NM_000051.4(ATM):c.680C>G (p.Ser227Ter) rs762998620
NM_000051.4(ATM):c.680del (p.Ser226_Ser227insTer) rs879254070
NM_000051.4(ATM):c.681dup (p.Gly228fs) rs1591503359
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.704del (p.Ala235fs) rs1591503565
NM_000051.4(ATM):c.706dup (p.Leu236fs) rs2135238203
NM_000051.4(ATM):c.709dup (p.Thr237fs) rs2079758064
NM_000051.4(ATM):c.710del (p.Thr237fs) rs1060501642
NM_000051.4(ATM):c.716del (p.Phe239fs) rs2079758855
NM_000051.4(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.4(ATM):c.72+1G>T rs786204088
NM_000051.4(ATM):c.72+1del
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.728dup (p.Leu243fs) rs2135238938
NM_000051.4(ATM):c.729_741del (p.Leu243fs) rs2079760023
NM_000051.4(ATM):c.72G>A (p.Lys24=)
NM_000051.4(ATM):c.72G>C (p.Lys24Asn)
NM_000051.4(ATM):c.73-1G>A rs1555054043
NM_000051.4(ATM):c.73-1G>C
NM_000051.4(ATM):c.73-2A>G
NM_000051.4(ATM):c.73-3C>G rs1555054039
NM_000051.4(ATM):c.737_738insAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGACTTTGGCTGTCAA (p.Asn246fs)
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.753del (p.Cys252fs) rs2135239839
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.757G>T (p.Glu253Ter)
NM_000051.4(ATM):c.769G>T (p.Glu257Ter) rs1565371596
NM_000051.4(ATM):c.76G>T (p.Glu26Ter)
NM_000051.4(ATM):c.76_79del (p.Glu26fs) rs2078816952
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.798G>A (p.Trp266Ter) rs2079766417
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.805_808dup (p.Arg270delinsThrTer)
NM_000051.4(ATM):c.824_825insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTATGATTCTTT (p.Leu275delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuTer) rs2135241864
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.825_849dup (p.Gln284delinsLysArgSerHisTyrTer) rs1591504396
NM_000051.4(ATM):c.828del (p.Glu277fs)
NM_000051.4(ATM):c.841G>T (p.Glu281Ter) rs1591504491
NM_000051.4(ATM):c.841_845del (p.Glu281fs)
NM_000051.4(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.4(ATM):c.855_856delinsCT (p.Gln286Ter) rs2079771517
NM_000051.4(ATM):c.855del (p.Gln286fs) rs1555067251
NM_000051.4(ATM):c.856C>T (p.Gln286Ter) rs2135242925
NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer) rs1565372075
NM_000051.4(ATM):c.86_89del (p.Lys29fs)
NM_000051.4(ATM):c.871del (p.His291fs)
NM_000051.4(ATM):c.873del (p.Pro292fs)
NM_000051.4(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.4(ATM):c.885del (p.Thr297fs)
NM_000051.4(ATM):c.892C>T (p.Gln298Ter) rs2079775247
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.900dup (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901+2delinsAA rs1555067355
NM_000051.4(ATM):c.902-1G>A rs1064793518
NM_000051.4(ATM):c.902-2A>G rs2079877131
NM_000051.4(ATM):c.907dup (p.Tyr303fs)
NM_000051.4(ATM):c.90del (p.Phe30fs) rs2135011143
NM_000051.4(ATM):c.914C>G (p.Ser305Ter)
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
NM_000051.4(ATM):c.920_921del (p.Lys307fs) rs2135264840
NM_000051.4(ATM):c.925A>T (p.Arg309Ter)
NM_000051.4(ATM):c.929del (p.Ser310fs) rs1591510597
NM_000051.4(ATM):c.933_951del (p.Leu312fs)
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTT (p.Leu312fs)
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTT (p.Ile311_Leu312insPhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaSerAlaArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaLeu) rs2079879604
NM_000051.4(ATM):c.944del (p.Leu315fs) rs1565375035
NM_000051.4(ATM):c.945dup (p.Tyr316fs) rs2135265770
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer) rs2135265742
NM_000051.4(ATM):c.947_951del (p.Tyr316fs) rs1565375055
NM_000051.4(ATM):c.964_968del (p.Glu322fs) rs1555068404
NM_000051.4(ATM):c.967del (p.Glu322_Ile323insTer) rs2135266498
NM_000051.4(ATM):c.972_979del (p.Ser324fs) rs2135266573
NM_000051.4(ATM):c.977_978del (p.Ile326fs) rs876658832
NM_000051.4(ATM):c.978del (p.Ile326fs) rs1565375308
NM_000051.4(ATM):c.980del (p.Gly327fs) rs1331064724
NM_000051.4(ATM):c.992del (p.Lys331fs) rs1060501684
NM_000051.4:c.7387_7388insAluYk11
Single allele
c.2249ins9
c.2639del200nt
c.3802delG
c.7271T>G
c.8313-2A>C

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