NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
|
rs146975341
|
0.00017
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
NM_001113525.2(ZNF276):c.*471G>C
|
rs368506826
|
0.00012
|
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)
|
rs199652831
|
0.00009
|
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)
|
rs139478274
|
0.00009
|
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)
|
rs374649848
|
0.00006
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)
|
rs374984587
|
0.00006
|
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
|
rs144171225
|
0.00005
|
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu)
|
rs576079738
|
0.00004
|
NM_001113525.2(ZNF276):c.*189C>T
|
rs886052479
|
0.00004
|
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr)
|
rs925649874
|
0.00003
|
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile)
|
rs1254151716
|
0.00003
|
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)
|
rs201886956
|
0.00002
|
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val)
|
rs766710139
|
0.00002
|
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)
|
rs753944130
|
0.00002
|
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe)
|
rs752245802
|
0.00002
|
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr)
|
rs767206558
|
0.00002
|
NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn)
|
rs772122405
|
0.00002
|
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)
|
rs769243354
|
0.00002
|
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu)
|
rs752800577
|
0.00001
|
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
|
rs759514393
|
0.00001
|
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn)
|
rs914045767
|
0.00001
|
NM_000135.4(FANCA):c.3849G>T (p.Lys1283Asn)
|
rs749869884
|
0.00001
|
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr)
|
rs1261384324
|
0.00001
|
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp)
|
rs200215131
|
0.00001
|
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg)
|
rs1439125894
|
0.00001
|
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe)
|
rs112734327
|
0.00001
|
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln)
|
rs761934804
|
0.00001
|
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
|
rs745688750
|
0.00001
|
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His)
|
rs1041491550
|
0.00001
|
NM_000135.4(FANCA):c.4099C>G (p.Leu1367Val)
|
rs2062056417
|
0.00001
|
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)
|
rs1060501882
|
0.00001
|
NM_000135.4(FANCA):c.4159A>G (p.Lys1387Glu)
|
rs1436768029
|
0.00001
|
NM_000135.4(FANCA):c.4167+2C>T
|
rs374765708
|
0.00001
|
NM_000135.4(FANCA):c.4186A>G (p.Ile1396Val)
|
rs1376923890
|
0.00001
|
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)
|
rs1441175300
|
0.00001
|
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)
|
rs147406377
|
0.00001
|
NM_000135.4(FANCA):c.4298G>A (p.Ser1433Asn)
|
rs747310276
|
0.00001
|
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val)
|
rs2062029094
|
0.00001
|
NM_001113525.2(ZNF276):c.*1228G>A
|
rs1206285832
|
0.00001
|
NM_001113525.2(ZNF276):c.*739A>G
|
rs753475025
|
0.00001
|
NM_001113525.2(ZNF276):c.*883C>T
|
rs370080063
|
0.00001
|
NC_000016.10:g.(?_89738601)_(89816616_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89809366_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89813308_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89831484_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89858965_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89866066_?)dup
|
|
|
NC_000016.9:g.(?_89805270)_(89806527_?)dup
|
|
|
NC_000016.9:g.(?_89805270)_(89807294_?)dup
|
|
|
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val)
|
|
|
NM_000135.4(FANCA):c.3771G>T (p.Leu1257Phe)
|
rs1402327994
|
|
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del)
|
rs1157717956
|
|
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu)
|
|
|
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr)
|
|
|
NM_000135.4(FANCA):c.3788T>C (p.Phe1263Ser)
|
rs2062115558
|
|
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del)
|
rs2151716800
|
|
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
|
|
|
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr)
|
rs2062114648
|
|
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg)
|
|
|
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)
|
rs142919010
|
|
NM_000135.4(FANCA):c.3851C>A (p.Ala1284Asp)
|
|
|
NM_000135.4(FANCA):c.3853T>C (p.Phe1285Leu)
|
rs1470679036
|
|
NM_000135.4(FANCA):c.3855C>A (p.Phe1285Leu)
|
|
|
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln)
|
rs761705192
|
|
NM_000135.4(FANCA):c.3863G>T (p.Cys1288Phe)
|
rs2062089641
|
|
NM_000135.4(FANCA):c.3865G>C (p.Ala1289Pro)
|
rs2151714785
|
|
NM_000135.4(FANCA):c.3869C>T (p.Ala1290Val)
|
|
|
NM_000135.4(FANCA):c.3871A>G (p.Ile1291Val)
|
rs547572315
|
|
NM_000135.4(FANCA):c.3876_3877delinsAA (p.Glu1293Lys)
|
|
|
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys)
|
rs1015729981
|
|
NM_000135.4(FANCA):c.3884T>C (p.Leu1295Ser)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3889A>G (p.Lys1297Glu)
|
|
|
NM_000135.4(FANCA):c.3896_3898del (p.Lys1299del)
|
|
|
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn)
|
|
|
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val)
|
rs1232415717
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg)
|
rs878853665
|
|
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro)
|
rs1598055304
|
|
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu)
|
|
|
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu)
|
|
|
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe)
|
rs775127240
|
|
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp)
|
rs2151714594
|
|
NM_000135.4(FANCA):c.3932G>A (p.Ser1311Asn)
|
rs2062087829
|
|
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe)
|
rs551306400
|
|
NM_000135.4(FANCA):c.3952C>G (p.Leu1318Val)
|
rs2151712993
|
|
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)
|
rs927201841
|
|
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe)
|
|
|
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser)
|
rs755375493
|
|
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro)
|
rs374649848
|
|
NM_000135.4(FANCA):c.3970C>T (p.Pro1324Ser)
|
rs2151712907
|
|
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu)
|
rs962823945
|
|
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu)
|
|
|
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met)
|
|
|
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu)
|
rs774576283
|
|
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser)
|
|
|
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val)
|
|
|
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser)
|
rs768733593
|
|
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys)
|
|
|
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys)
|
|
|
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu)
|
|
|
NM_000135.4(FANCA):c.4029T>G (p.His1343Gln)
|
rs745577614
|
|
NM_000135.4(FANCA):c.4033G>C (p.Asp1345His)
|
|
|
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr)
|
rs751928369
|
|
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
|
rs1477796994
|
|
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro)
|
|
|
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro)
|
|
|
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg)
|
|
|
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val)
|
|
|
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His)
|
rs1555533313
|
|
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val)
|
|
|
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val)
|
rs775351812
|
|
NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg)
|
rs773947543
|
|
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu)
|
rs529210242
|
|
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe)
|
|
|
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met)
|
rs201225325
|
|
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu)
|
rs201225325
|
|
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg)
|
|
|
NM_000135.4(FANCA):c.4118C>G (p.Thr1373Arg)
|
rs1277481284
|
|
NM_000135.4(FANCA):c.4124C>T (p.Thr1375Ile)
|
rs2062055389
|
|
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile)
|
|
|
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser)
|
rs2062055110
|
|
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr)
|
|
|
NM_000135.4(FANCA):c.4138G>A (p.Ala1380Thr)
|
rs775234845
|
|
NM_000135.4(FANCA):c.4138G>C (p.Ala1380Pro)
|
rs775234845
|
|
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr)
|
rs367970303
|
|
NM_000135.4(FANCA):c.4147A>G (p.Ser1383Gly)
|
rs2062054242
|
|
NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg)
|
|
|
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp)
|
rs770551622
|
|
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His)
|
rs1598051449
|
|
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val)
|
rs2062046761
|
|
NM_000135.4(FANCA):c.4186A>T (p.Ile1396Leu)
|
rs1376923890
|
|
NM_000135.4(FANCA):c.4187T>A (p.Ile1396Lys)
|
|
|
NM_000135.4(FANCA):c.4187T>C (p.Ile1396Thr)
|
|
|
NM_000135.4(FANCA):c.4190C>A (p.Thr1397Lys)
|
|
|
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)
|
|
|
NM_000135.4(FANCA):c.4195G>A (p.Ala1399Thr)
|
rs749574677
|
|
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val)
|
rs1457671800
|
|
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln)
|
rs201494304
|
|
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr)
|
rs772122405
|
|
NM_000135.4(FANCA):c.4253T>C (p.Val1418Ala)
|
|
|
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp)
|
rs2151710661
|
|
NM_000135.4(FANCA):c.4264C>A (p.Leu1422Met)
|
|
|
NM_000135.4(FANCA):c.4264C>G (p.Leu1422Val)
|
|
|
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly)
|
rs587778321
|
|
NM_000135.4(FANCA):c.4274G>C (p.Arg1425Pro)
|
rs147406377
|
|
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg)
|
|
|
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val)
|
rs1350768758
|
|
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser)
|
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer)
|
|
|
NM_000135.4(FANCA):c.4288C>G (p.Pro1430Ala)
|
|
|
NM_000135.4(FANCA):c.4291G>A (p.Glu1431Lys)
|
rs1567591125
|
|
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln)
|
rs1567591125
|
|
NM_000135.4(FANCA):c.4293G>C (p.Glu1431Asp)
|
rs1235881790
|
|
NM_000135.4(FANCA):c.4294G>A (p.Val1432Met)
|
|
|
NM_000135.4(FANCA):c.4295T>G (p.Val1432Gly)
|
|
|
NM_000135.4(FANCA):c.4299C>G (p.Ser1433Arg)
|
rs568293451
|
|
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His)
|
|
|
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn)
|
|
|
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)
|
rs587778322
|
|
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter)
|
rs767234774
|
|
NM_000135.4(FANCA):c.4319del (p.Gln1440fs)
|
rs2151709763
|
|
NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)
|
|
|
NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala)
|
|
|
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn)
|
rs769025633
|
|
NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu)
|
|
|
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)
|
|
|
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)
|
|
|
NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg)
|
rs1223154937
|
|
NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs)
|
|
|
NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys)
|
rs779236651
|
|
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg)
|
rs757549007
|
|
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln)
|
rs1043241541
|
|
NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser)
|
rs1489574740
|
|
NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg)
|
|
|
NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr)
|
rs1338647532
|
|
NM_000135.4(FANCA):c.4358del (p.His1453fs)
|
rs2151709638
|
|
NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro)
|
rs2151709628
|
|
NM_001113525.2(ZNF276):c.*1046A>G
|
rs1257557473
|
|
NM_001113525.2(ZNF276):c.*1227G>A
|
rs1353285713
|
|
NM_001113525.2(ZNF276):c.*1310G>C
|
|
|
NM_001113525.2(ZNF276):c.*1743C>T
|
|
|
NM_001113525.2(ZNF276):c.*1744T>C
|
rs2062087707
|
|
NM_001113525.2(ZNF276):c.*1867G>C
|
|
|
NM_001113525.2(ZNF276):c.*2623G>A
|
|
|
NM_001113525.2(ZNF276):c.*468AG[2]
|
|
|
NM_001113525.2(ZNF276):c.*469G>C
|
|
|
NM_001113525.2(ZNF276):c.*471GAG[1]
|
rs2151710048
|
|
NM_001113525.2(ZNF276):c.*474_*481del
|
rs1567591276
|
|
NM_001113525.2(ZNF276):c.*475A>T
|
rs2151710077
|
|
NM_001113525.2(ZNF276):c.*630C>A
|
rs374793201
|
|
NM_001113525.2(ZNF276):c.*630C>G
|
rs374793201
|
|
NM_001113525.2(ZNF276):c.*630C>T
|
rs374793201
|
|
NM_001113525.2(ZNF276):c.*631G>A
|
|
|