|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
|
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
|
rs149266909
|
0.00116
|
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00065
|
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
|
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter)
|
rs8133955
|
0.00021
|
|
NM_000136.3(FANCC):c.355_358del (p.Ser119fs)
|
rs750003253
|
0.00019
|
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
|
NM_020661.4(AICDA):c.416T>C (p.Met139Thr)
|
rs200858797
|
0.00019
|
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
|
NM_005142.3(CBLIF):c.79+1G>A
|
rs147785187
|
0.00017
|
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
|
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter)
|
rs145661597
|
0.00016
|
|
NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter)
|
rs137998687
|
0.00016
|
|
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)
|
rs72553879
|
0.00016
|
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
|
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)
|
rs753325454
|
0.00014
|
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
|
NM_000312.4(PROC):c.889G>C (p.Asp297His)
|
rs199469471
|
0.00013
|
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
0.00013
|
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
|
NM_000631.5(NCF4):c.758+50C>T
|
rs201021542
|
0.00011
|
|
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)
|
rs140404896
|
0.00011
|
|
NM_005373.3(MPL):c.769C>T (p.Arg257Cys)
|
rs121913611
|
0.00011
|
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
|
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)
|
rs368728266
|
0.00009
|
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
|
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter)
|
rs368697251
|
0.00008
|
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
|
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr)
|
rs370011798
|
0.00008
|
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
|
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
|
rs374538208
|
0.00007
|
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00007
|
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
|
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)
|
rs179363892
|
0.00006
|
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
|
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)
|
rs137852618
|
0.00006
|
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
|
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)
|
rs76811038
|
0.00006
|
|
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter)
|
rs141472681
|
0.00006
|
|
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)
|
rs763568293
|
0.00006
|
|
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)
|
rs72553882
|
0.00006
|
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
|
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
|
rs200478425
|
0.00006
|
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
|
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)
|
rs200956636
|
0.00006
|
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
|
NM_000312.4(PROC):c.541T>G (p.Phe181Val)
|
rs199469470
|
0.00005
|
|
NM_000355.4(TCN2):c.428-2_428-1del
|
rs955351335
|
0.00005
|
|
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
|
rs121909547
|
0.00005
|
|
NM_000631.5(NCF4):c.118-1G>A
|
rs28445840
|
0.00005
|
|
NM_001018115.3(FANCD2):c.990-1G>A
|
rs112832879
|
0.00005
|
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
|
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
|
rs121918164
|
0.00005
|
|
NM_005373.3(MPL):c.235_236del (p.Leu79fs)
|
rs587778514
|
0.00005
|
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
|
NM_020937.4(FANCM):c.1491dup (p.Gln498fs)
|
rs797045116
|
0.00005
|
|
NM_182916.3(TRNT1):c.608+1G>T
|
rs529290186
|
0.00005
|
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
|
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter)
|
rs1043139127
|
0.00004
|
|
NM_000130.5(F5):c.2862del (p.Ser955fs)
|
rs765982916
|
0.00004
|
|
NM_000133.4(F9):c.316G>A (p.Gly106Ser)
|
rs137852233
|
0.00004
|
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00004
|
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
|
NM_000211.5(ITGB2):c.897+1G>A
|
rs201752283
|
0.00004
|
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
|
NM_000312.4(PROC):c.814C>T (p.Arg272Cys)
|
rs121918154
|
0.00004
|
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
|
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)
|
rs387906808
|
0.00004
|
|
NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter)
|
rs185689791
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)
|
rs766567785
|
0.00004
|
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
|
NM_004629.2(FANCG):c.832dup (p.Ala278fs)
|
rs1290655946
|
0.00004
|
|
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)
|
rs148434485
|
0.00004
|
|
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)
|
rs369156948
|
0.00004
|
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
|
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)
|
rs727504145
|
0.00004
|
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
|
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter)
|
rs144718007
|
0.00004
|
|
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter)
|
rs72553885
|
0.00004
|
|
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter)
|
rs773014744
|
0.00004
|
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
|
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)
|
rs199931785
|
0.00004
|
|
NM_182916.3(TRNT1):c.538A>T (p.Lys180Ter)
|
rs762873423
|
0.00004
|
|
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter)
|
rs370699359
|
0.00004
|
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
|
NM_000135.4(FANCA):c.3828+1G>C
|
rs1432988639
|
0.00003
|
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
|
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)
|
rs137852616
|
0.00003
|
|
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)
|
rs138695265
|
0.00003
|
|
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter)
|
rs536238004
|
0.00003
|
|
NM_000313.4(PROS1):c.1681C>T (p.Arg561Trp)
|
rs121918476
|
0.00003
|
|
NM_000313.4(PROS1):c.77-1G>C
|
rs759677822
|
0.00003
|
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
|
NM_000419.5(ITGA2B):c.2602-3C>G
|
rs763330792
|
0.00003
|
|
NM_000433.4(NCF2):c.550C>T (p.Arg184Ter)
|
rs766745748
|
0.00003
|
|
NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter)
|
rs374536805
|
0.00003
|
|
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)
|
rs751868289
|
0.00003
|
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)
|
rs193302892
|
0.00003
|
|
NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter)
|
rs770266168
|
0.00003
|
|
NM_001805.4(CEBPE):c.391C>T (p.Arg131Ter)
|
rs760325316
|
0.00003
|
|
NM_001814.6(CTSC):c.815G>A (p.Arg272His)
|
rs587777534
|
0.00003
|
|
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)
|
rs137854445
|
0.00003
|
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
|
NM_005373.3(MPL):c.230del (p.Cys77fs)
|
rs1291157023
|
0.00003
|
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00003
|
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
|
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)
|
rs121908626
|
0.00003
|
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
|
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)
|
rs775380378
|
0.00003
|
|
NM_006363.6(SEC23B):c.689+1G>A
|
rs398124226
|
0.00003
|
|
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)
|
rs121918224
|
0.00003
|
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
|
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
|
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter)
|
rs751954386
|
0.00003
|
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
|
NM_138387.4(G6PC3):c.207dup (p.Ile70fs)
|
rs1191239079
|
0.00003
|
|
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)
|
rs745582203
|
0.00003
|
|
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)
|
rs748931188
|
0.00003
|
|
NM_152564.5(VPS13B):c.4569T>A (p.Tyr1523Ter)
|
rs1361356353
|
0.00003
|
|
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter)
|
rs140217223
|
0.00003
|
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
|
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)
|
rs587783037
|
0.00002
|
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
|
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)
|
rs587779888
|
0.00002
|
|
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)
|
rs918752814
|
0.00002
|
|
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)
|
rs776936158
|
0.00002
|
|
NM_000133.4(F9):c.163T>A (p.Phe55Ile)
|
rs759987427
|
0.00002
|
|
NM_000133.4(F9):c.301C>G (p.Pro101Ala)
|
rs137852232
|
0.00002
|
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
|
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)
|
rs773159223
|
0.00002
|
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
|
NM_000211.5(ITGB2):c.2070del (p.Asp690fs)
|
rs1466186480
|
0.00002
|
|
NM_000312.4(PROC):c.1015G>A (p.Val339Met)
|
rs121918158
|
0.00002
|
|
NM_000312.4(PROC):c.169C>T (p.Arg57Trp)
|
rs757583846
|
0.00002
|
|
NM_000312.4(PROC):c.925G>A (p.Ala309Thr)
|
rs121918146
|
0.00002
|
|
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys)
|
rs387906674
|
0.00002
|
|
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)
|
rs766423432
|
0.00002
|
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
0.00002
|
|
NM_000433.4(NCF2):c.304C>T (p.Arg102Ter)
|
rs374402066
|
0.00002
|
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
0.00002
|
|
NM_000631.5(NCF4):c.143_152dup (p.Lys52fs)
|
rs869025585
|
0.00002
|
|
NM_001006658.3(CR2):c.1078C>T (p.Arg360Ter)
|
rs772481080
|
0.00002
|
|
NM_001006658.3(CR2):c.424C>T (p.Arg142Ter)
|
rs201017642
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)
|
rs771869385
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
|
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)
|
rs144484373
|
0.00002
|
|
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)
|
rs756614749
|
0.00002
|
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
|
NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter)
|
rs557208468
|
0.00002
|
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
|
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
|
rs773847168
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)
|
rs902775927
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)
|
rs769726248
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
|
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)
|
rs782090947
|
0.00002
|
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
|
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)
|
rs750126005
|
0.00002
|
|
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter)
|
rs777997657
|
0.00002
|
|
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)
|
rs375908206
|
0.00002
|
|
NM_004629.2(FANCG):c.1077-2A>G
|
rs769547477
|
0.00002
|
|
NM_004629.2(FANCG):c.1144-1G>T
|
rs755363896
|
0.00002
|
|
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter)
|
rs776122485
|
0.00002
|
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
|
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)
|
rs779834525
|
0.00002
|
|
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)
|
rs758428763
|
0.00002
|
|
NM_005476.7(GNE):c.1130del (p.Ile377fs)
|
rs982936794
|
0.00002
|
|
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
|
rs121908632
|
0.00002
|
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
|
NM_005476.7(GNE):c.32G>A (p.Arg11Gln)
|
rs1401082365
|
0.00002
|
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
|
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter)
|
rs121908165
|
0.00002
|
|
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)
|
rs201921350
|
0.00002
|
|
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)
|
rs199939108
|
0.00002
|
|
NM_012452.3(TNFRSF13B):c.62-1G>A
|
rs759649059
|
0.00002
|
|
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)
|
rs556977618
|
0.00002
|
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
|
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)
|
rs1431992617
|
0.00002
|
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
|
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter)
|
rs1011870043
|
0.00002
|
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
|
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)
|
rs730881939
|
0.00002
|
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
|
NM_058216.3(RAD51C):c.837+1G>A
|
rs760235677
|
0.00002
|
|
NM_080911.3(UNG):c.685C>T (p.Arg229Ter)
|
rs772214871
|
0.00002
|
|
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter)
|
rs148559256
|
0.00002
|
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
|
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)
|
rs763909903
|
0.00002
|
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
|
NM_182916.3(TRNT1):c.1019del (p.Ser339_Ser340insTer)
|
rs755536381
|
0.00002
|
|
NM_183235.3(RAB27A):c.227C>T (p.Ala76Val)
|
rs766632505
|
0.00002
|
|
NM_183235.3(RAB27A):c.239+1G>T
|
rs761810607
|
0.00002
|
|
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr)
|
rs765369750
|
0.00002
|
|
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter)
|
rs369583279
|
0.00001
|
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
|
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)
|
rs1400231534
|
0.00001
|
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
|
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter)
|
rs1472603091
|
0.00001
|
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
|
NM_000057.4(BLM):c.3727dup (p.Thr1243fs)
|
rs367543021
|
0.00001
|
|
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp)
|
rs1477466218
|
0.00001
|
|
NM_000081.4(LYST):c.1507C>T (p.Arg503Ter)
|
rs1558282769
|
0.00001
|
|
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)
|
rs80338652
|
0.00001
|
|
NM_000096.4(CP):c.2498C>G (p.Ser833Ter)
|
rs369900671
|
0.00001
|
|
NM_000096.4(CP):c.2701C>T (p.Arg901Ter)
|
rs386134156
|
0.00001
|
|
NM_000096.4(CP):c.643C>T (p.Arg215Ter)
|
rs386134155
|
0.00001
|
|
NM_000101.4(CYBA):c.287+2T>C
|
rs747774702
|
0.00001
|
|
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)
|
rs28941476
|
0.00001
|
|
NM_000130.5(F5):c.1600C>T (p.Arg534Ter)
|
rs770011773
|
0.00001
|
|
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys)
|
rs118203907
|
0.00001
|
|
NM_000133.4(F9):c.-35G>A
|
rs1166164399
|
0.00001
|
|
NM_000133.4(F9):c.1150C>T (p.Arg384Ter)
|
rs137852261
|
0.00001
|
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
|
NM_000133.4(F9):c.354G>A (p.Trp118Ter)
|
rs1234002716
|
0.00001
|
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
|
NM_000133.4(F9):c.572G>A (p.Arg191His)
|
rs137852238
|
0.00001
|
|
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)
|
rs772858764
|
0.00001
|
|
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
|
rs755018069
|
0.00001
|
|
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter)
|
rs769718381
|
0.00001
|
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
|
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
|
rs779745863
|
0.00001
|
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
|
NM_000135.4(FANCA):c.184del (p.Glu63fs)
|
rs1260966020
|
0.00001
|
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
|
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)
|
rs2039278551
|
0.00001
|
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
|
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)
|
rs762804216
|
0.00001
|
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
|
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
|
rs779480428
|
0.00001
|
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
|
NM_000135.4(FANCA):c.3813dup (p.His1272fs)
|
rs1555534521
|
0.00001
|
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
|
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)
|
rs747892390
|
0.00001
|
|
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
|
rs745688750
|
0.00001
|
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
|
NM_000135.4(FANCA):c.793-3C>G
|
rs749688050
|
0.00001
|
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
|
NM_000136.3(FANCC):c.108_109dup (p.His37fs)
|
rs1057517131
|
0.00001
|
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
|
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)
|
rs867319477
|
0.00001
|
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
|
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)
|
rs1831179586
|
0.00001
|
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
|
NM_000136.3(FANCC):c.916_917del (p.Asp306fs)
|
rs779806106
|
0.00001
|
|
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys)
|
rs137852609
|
0.00001
|
|
NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn)
|
rs137852615
|
0.00001
|
|
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter)
|
rs148877937
|
0.00001
|
|
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter)
|
rs121913580
|
0.00001
|
|
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys)
|
rs150058137
|
0.00001
|
|
NM_000254.3(MTR):c.2101del (p.Tyr701fs)
|
rs762727293
|
0.00001
|
|
NM_000254.3(MTR):c.2474-1G>C
|
rs757963570
|
0.00001
|
|
NM_000254.3(MTR):c.340-166A>G
|
rs1661117141
|
0.00001
|
|
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter)
|
rs201718371
|
0.00001
|
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
|
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
|
rs41291965
|
0.00001
|
|
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
|
rs138893744
|
0.00001
|
|
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser)
|
rs121918150
|
0.00001
|
|
NM_000312.4(PROC):c.1019C>T (p.Thr340Met)
|
rs766261022
|
0.00001
|
|
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu)
|
rs1211098698
|
0.00001
|
|
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn)
|
rs142742242
|
0.00001
|
|
NM_000312.4(PROC):c.1218G>A (p.Met406Ile)
|
rs780456728
|
0.00001
|
|
NM_000312.4(PROC):c.400+5G>C
|
rs199469478
|
0.00001
|
|
NM_000312.4(PROC):c.400G>T (p.Glu134Ter)
|
rs1257816310
|
0.00001
|
|
NM_000312.4(PROC):c.445dup (p.His149fs)
|
rs772629538
|
0.00001
|
|
NM_000312.4(PROC):c.595C>T (p.Arg199Ter)
|
rs1456533664
|
0.00001
|
|
NM_000312.4(PROC):c.629C>T (p.Pro210Leu)
|
rs121918145
|
0.00001
|
|
NM_000312.4(PROC):c.631C>T (p.Arg211Trp)
|
rs121918143
|
0.00001
|
|
NM_000312.4(PROC):c.659G>A (p.Arg220Gln)
|
rs121918153
|
0.00001
|
|
NM_000312.4(PROC):c.811C>T (p.Arg271Trp)
|
rs767112991
|
0.00001
|
|
NM_000312.4(PROC):c.935C>T (p.Ser312Leu)
|
rs121918160
|
0.00001
|
|
NM_000312.4(PROC):c.962C>T (p.Pro321Leu)
|
rs1321566264
|
0.00001
|
|
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter)
|
rs199469503
|
0.00001
|
|
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu)
|
rs121918474
|
0.00001
|
|
NM_000355.4(TCN2):c.1099G>T (p.Gly367Ter)
|
rs1057520098
|
0.00001
|
|
NM_000355.4(TCN2):c.1106+1G>A
|
rs766478911
|
0.00001
|
|
NM_000377.3(WAS):c.223G>A (p.Val75Met)
|
rs782290433
|
0.00001
|
|
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)
|
rs137854592
|
0.00001
|
|
NM_000402.4(G6PD):c.1451G>A (p.Arg484His)
|
rs137852324
|
0.00001
|
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
|
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)
|
rs137852343
|
0.00001
|
|
NM_000419.5(ITGA2B):c.1752+2T>C
|
rs769156315
|
0.00001
|
|
NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter)
|
rs79657230
|
0.00001
|
|
NM_000433.4(NCF2):c.366+1G>A
|
rs796065032
|
0.00001
|
|
NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr)
|
rs1487411568
|
0.00001
|
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
|
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter)
|
rs1657743081
|
0.00001
|
|
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)
|
rs193922608
|
0.00001
|
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
|
NM_000551.4(VHL):c.492G>C (p.Gln164His)
|
rs1352275281
|
0.00001
|
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
|
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter)
|
rs756667927
|
0.00001
|
|
NM_000760.4(CSF3R):c.799del (p.Glu267fs)
|
rs759302795
|
0.00001
|
|
NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter)
|
rs1334688271
|
0.00001
|
|
NM_001006658.3(CR2):c.784G>T (p.Gly262Ter)
|
rs1030733127
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)
|
rs770686014
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
|
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)
|
rs764507146
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)
|
rs775517107
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3888+2T>G
|
rs1419879344
|
0.00001
|
|
NM_001018115.3(FANCD2):c.696-1G>A
|
rs954555240
|
0.00001
|
|
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)
|
rs374328858
|
0.00001
|
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
0.00001
|
|
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter)
|
rs769881615
|
0.00001
|
|
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
|
rs1461982823
|
0.00001
|
|
NM_001081.4(CUBN):c.7802G>A (p.Trp2601Ter)
|
rs1841554531
|
0.00001
|
|
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)
|
rs759203841
|
0.00001
|
|
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)
|
rs1347292940
|
0.00001
|
|
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)
|
rs551399966
|
0.00001
|
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
|
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)
|
rs748000458
|
0.00001
|
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
|
NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter)
|
rs1303324683
|
0.00001
|
|
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs)
|
rs756691827
|
0.00001
|
|
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter)
|
rs771312042
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter)
|
rs1444468055
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+1G>T
|
rs782630676
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)
|
rs786204740
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter)
|
rs782313064
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
|
rs80356489
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)
|
rs193302879
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)
|
rs193302890
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)
|
rs782172072
|
0.00001
|
|
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)
|
rs1557229572
|
0.00001
|
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
|
NM_001364905.1(LRBA):c.5980C>T (p.Arg1994Ter)
|
rs760342862
|
0.00001
|
|
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter)
|
rs1206185362
|
0.00001
|
|
NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter)
|
rs1268711491
|
0.00001
|
|
NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter)
|
rs1004337827
|
0.00001
|
|
NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter)
|
rs759068561
|
0.00001
|
|
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)
|
rs1569061762
|
0.00001
|
|
NM_001805.4(CEBPE):c.70C>T (p.Arg24Ter)
|
rs1396196056
|
0.00001
|
|
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)
|
rs104894211
|
0.00001
|
|
NM_001814.6(CTSC):c.1A>G (p.Met1Val)
|
rs886048742
|
0.00001
|
|
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)
|
rs104894208
|
0.00001
|
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
|
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)
|
rs1421007019
|
0.00001
|
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
|
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)
|
rs1293600145
|
0.00001
|
|
NM_002454.3(MTRR):c.230del (p.Gln77fs)
|
rs1408257020
|
0.00001
|
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
|
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)
|
rs1353165398
|
0.00001
|
|
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)
|
rs121434425
|
0.00001
|
|
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter)
|
rs1209807088
|
0.00001
|
|
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)
|
rs149721361
|
0.00001
|
|
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
|
rs754484649
|
0.00001
|
|
NM_005050.4(ABCD4):c.542+1G>T
|
rs769364566
|
0.00001
|
|
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)
|
rs762738968
|
0.00001
|
|
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)
|
rs397509404
|
0.00001
|
|
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)
|
rs2020959
|
0.00001
|
|
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)
|
rs1355966040
|
0.00001
|
|
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)
|
rs751975712
|
0.00001
|
|
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter)
|
rs753018650
|
0.00001
|
|
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)
|
rs1169744090
|
0.00001
|
|
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter)
|
rs755447085
|
0.00001
|
|
NM_005373.3(MPL):c.605dup (p.Ala203fs)
|
rs1441276119
|
0.00001
|
|
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)
|
rs747199032
|
0.00001
|
|
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)
|
rs966918577
|
0.00001
|
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
|
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)
|
rs752286512
|
0.00001
|
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
|
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)
|
rs1191857860
|
0.00001
|
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
|
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)
|
rs759945787
|
0.00001
|
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
|
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter)
|
rs374758765
|
0.00001
|
|
NM_006118.4(HAX1):c.407del (p.His136fs)
|
rs748595772
|
0.00001
|
|
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)
|
rs1568617456
|
0.00001
|
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
|
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter)
|
rs201348482
|
0.00001
|
|
NM_012388.4(BLOC1S6):c.335dup (p.His112fs)
|
rs762974622
|
0.00001
|
|
NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs)
|
rs72553878
|
0.00001
|
|
NM_012452.3(TNFRSF13B):c.497del (p.Thr166fs)
|
rs2087501902
|
0.00001
|
|
NM_012452.3(TNFRSF13B):c.552C>A (p.Cys184Ter)
|
rs1286642936
|
0.00001
|
|
NM_012452.3(TNFRSF13B):c.61+2T>A
|
rs760885614
|
0.00001
|
|
NM_012452.3(TNFRSF13B):c.62-2A>G
|
rs1286673507
|
0.00001
|
|
NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter)
|
rs1554894837
|
0.00001
|
|
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)
|
rs758477536
|
0.00001
|
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
|
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)
|
rs759188647
|
0.00001
|
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
|
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)
|
rs779893448
|
0.00001
|
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
|
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)
|
rs145741622
|
0.00001
|
|
NM_018062.4(FANCL):c.1A>T (p.Met1Leu)
|
rs772037896
|
0.00001
|
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
|
NM_018062.4(FANCL):c.565C>T (p.Gln189Ter)
|
rs1191111879
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)
|
rs1380343985
|
0.00001
|
|
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter)
|
rs766512058
|
0.00001
|
|
NM_020661.4(AICDA):c.259T>C (p.Cys87Arg)
|
rs762590894
|
0.00001
|
|
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys)
|
rs1057520542
|
0.00001
|
|
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter)
|
rs104894323
|
0.00001
|
|
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter)
|
rs1156577591
|
0.00001
|
|
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter)
|
rs1034818403
|
0.00001
|
|
NM_020937.4(FANCM):c.1717C>T (p.Arg573Ter)
|
rs140760056
|
0.00001
|
|
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)
|
rs374626826
|
0.00001
|
|
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter)
|
rs903442271
|
0.00001
|
|
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter)
|
rs1383262366
|
0.00001
|
|
NM_020937.4(FANCM):c.2831_2832insAATATTCAATTATATTATTACAT (p.Gly945fs)
|
rs1888623566
|
0.00001
|
|
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs)
|
rs757391108
|
0.00001
|
|
NM_020937.4(FANCM):c.4003_4004insG (p.Lys1335fs)
|
rs1566766719
|
0.00001
|
|
NM_020937.4(FANCM):c.4401del (p.Ser1468fs)
|
rs1405059699
|
0.00001
|
|
NM_020937.4(FANCM):c.5221dup (p.Thr1741fs)
|
rs758498345
|
0.00001
|
|
NM_020937.4(FANCM):c.5530del (p.Gln1844fs)
|
rs778451008
|
0.00001
|
|
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter)
|
rs1379375089
|
0.00001
|
|
NM_020937.4(FANCM):c.679C>T (p.Gln227Ter)
|
rs1209536013
|
0.00001
|
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
|
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)
|
rs121434505
|
0.00001
|
|
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)
|
rs760150539
|
0.00001
|
|
NM_022051.3(EGLN1):c.461C>A (p.Ser154Ter)
|
rs1018129986
|
0.00001
|
|
NM_022725.4(FANCF):c.2T>G (p.Met1Arg)
|
rs745495865
|
0.00001
|
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
0.00001
|
|
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs)
|
rs2061477722
|
0.00001
|
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
0.00001
|
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
|
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)
|
rs760126773
|
0.00001
|
|
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)
|
rs1267428175
|
0.00001
|
|
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)
|
rs200715208
|
0.00001
|
|
NM_032444.4(SLX4):c.2808_2809del (p.Ala938fs)
|
rs767631456
|
0.00001
|
|
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs)
|
rs763914156
|
0.00001
|
|
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)
|
rs1291935778
|
0.00001
|
|
NM_032444.4(SLX4):c.860del (p.Ser287fs)
|
rs752720263
|
0.00001
|
|
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)
|
rs1426175410
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
|
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)
|
rs1060502588
|
0.00001
|
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2del
|
rs876658652
|
0.00001
|
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
|
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)
|
rs587781287
|
0.00001
|
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
|
NM_138387.4(G6PC3):c.210del (p.Phe71fs)
|
rs769441127
|
0.00001
|
|
NM_138387.4(G6PC3):c.218+1G>A
|
rs772298089
|
0.00001
|
|
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)
|
rs118203968
|
0.00001
|
|
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln)
|
rs113994137
|
0.00001
|
|
NM_139276.3(STAT3):c.833G>A (p.Arg278His)
|
rs2082128828
|
0.00001
|
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
|
NM_152564.5(VPS13B):c.11131C>T (p.Gln3711Ter)
|
rs1451352816
|
0.00001
|
|
NM_152564.5(VPS13B):c.11216-1G>C
|
rs1057517441
|
0.00001
|
|
NM_152564.5(VPS13B):c.11364del (p.Ala3789fs)
|
rs1485428182
|
0.00001
|
|
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter)
|
rs774376104
|
0.00001
|
|
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)
|
rs1394681818
|
0.00001
|
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
|
NM_152564.5(VPS13B):c.11746-1G>A
|
rs372327659
|
0.00001
|
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
|
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
|
rs120074152
|
0.00001
|
|
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter)
|
rs567092790
|
0.00001
|
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
|
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter)
|
rs1156390688
|
0.00001
|
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
|
NM_152564.5(VPS13B):c.4745+1G>A
|
rs1469729130
|
0.00001
|
|
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)
|
rs386834093
|
0.00001
|
|
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)
|
rs1057516633
|
0.00001
|
|
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs)
|
rs1829394659
|
0.00001
|
|
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)
|
rs886041586
|
0.00001
|
|
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)
|
rs386834099
|
0.00001
|
|
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)
|
rs754016783
|
0.00001
|
|
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter)
|
rs1293372026
|
0.00001
|
|
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)
|
rs371364257
|
0.00001
|
|
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)
|
rs748404277
|
0.00001
|
|
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter)
|
rs120074150
|
0.00001
|
|
NM_152564.5(VPS13B):c.7429+1G>A
|
rs386834106
|
0.00001
|
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
|
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter)
|
rs766484806
|
0.00001
|
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
|
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter)
|
rs386834112
|
0.00001
|
|
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter)
|
rs755996065
|
0.00001
|
|
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter)
|
rs121913161
|
0.00001
|
|
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter)
|
rs1230037871
|
0.00001
|
|
NM_182916.3(TRNT1):c.1010del (p.Thr337fs)
|
rs772805677
|
0.00001
|
|
NM_182916.3(TRNT1):c.218_219insGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA (p.Val73_Lys74insArgAspLeuLeuAsnTyrLysPheIleLysTrpIleTyrTer)
|
rs746154279
|
0.00001
|
|
NM_182916.3(TRNT1):c.33_46del (p.Leu13fs)
|
rs763685455
|
0.00001
|
|
NM_182916.3(TRNT1):c.442dup (p.Ala148fs)
|
rs1410048027
|
0.00001
|
|
NM_182916.3(TRNT1):c.609-26T>C
|
rs876661299
|
0.00001
|
|
NM_182916.3(TRNT1):c.622_623del (p.Ile208fs)
|
rs1259648157
|
0.00001
|
|
NM_183235.3(RAB27A):c.149del (p.Arg50fs)
|
rs770601673
|
0.00001
|
|
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)
|
rs755338751
|
0.00001
|
|
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)
|
rs372598000
|
0.00001
|
|
NM_203447.4(DOCK8):c.1498C>T (p.Arg500Ter)
|
rs770748316
|
0.00001
|
|
NM_203447.4(DOCK8):c.2971-1G>A
|
rs777066716
|
0.00001
|
|
NM_203447.4(DOCK8):c.850_851del (p.Leu284fs)
|
rs762990689
|
0.00001
|
|
NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter)
|
rs113432057
|
0.00001
|
|
G6PD Amsterdam
|
rs2070404412
|
|
|
NC_000001.10:g.(?_145414782)_(145610584_?)del
|
|
|
|
NC_000001.10:g.(?_145507647)_(145509231_?)del
|
|
|
|
NC_000001.10:g.(?_153963273)_(154580482_?)del
|
|
|
|
NC_000001.10:g.(?_169497133)_(169497352_?)del
|
|
|
|
NC_000001.10:g.(?_173873027)_(173962123_?)del
|
|
|
|
NC_000001.10:g.(?_173880917)_(173886568_?)del
|
|
|
|
NC_000001.10:g.(?_173883671)_(173886568_?)del
|
|
|
|
NC_000001.10:g.(?_183529360)_(183586672_?)del
|
|
|
|
NC_000001.10:g.(?_183536035)_(183536500_?)dup
|
|
|
|
NC_000001.10:g.(?_183538257)_(183543776_?)del
|
|
|
|
NC_000001.10:g.(?_183542300)_(183542447_?)del
|
|
|
|
NC_000001.10:g.(?_183543602)_(183543776_?)del
|
|
|
|
NC_000001.10:g.(?_183546714)_(183546862_?)del
|
|
|
|
NC_000001.10:g.(?_183556010)_(183556132_?)del
|
|
|
|
NC_000001.10:g.(?_183559271)_(183559464_?)del
|
|
|
|
NC_000001.10:g.(?_23395012)_(24673151_?)del
|
|
|
|
NC_000001.10:g.(?_235275379)_(236899040_?)del
|
|
|
|
NC_000001.10:g.(?_235543365)_(235922919_?)del
|
|
|
|
NC_000001.10:g.(?_235826240)_(235976381_?)del
|
|
|
|
NC_000001.10:g.(?_235827745)_(235827941_?)del
|
|
|
|
NC_000001.10:g.(?_235840371)_(235860592_?)del
|
|
|
|
NC_000001.10:g.(?_235850229)_(235872628_?)del
|
|
|
|
NC_000001.10:g.(?_235937122)_(235944375_?)del
|
|
|
|
NC_000001.10:g.(?_237054413)_(237057877_?)del
|
|
|
|
NC_000001.10:g.(?_24021140)_(24022863_?)del
|
|
|
|
NC_000001.10:g.(?_43800988)_(43803797_?)del
|
|
|
|
NC_000001.10:g.(?_43803510)_(43806194_?)del
|
|
|
|
NC_000001.10:g.(?_45965995)_(45966095_?)del
|
|
|
|
NC_000001.10:g.(?_45973008)_(45977106_?)del
|
|
|
|
NC_000001.10:g.(?_45974458)_(45974897_?)del
|
|
|
|
NC_000001.10:g.(?_93297672)_(93307422_?)del
|
|
|
|
NC_000001.11:g.(?_173903804)_(173917378_?)del
|
|
|
|
NC_000001.11:g.(?_235662920)_(235782107_?)del
|
|
|
|
NC_000001.11:g.(?_236795684)_(236897664_?)del
|
|
|
|
NC_000001.11:g.(?_23691814)_(23696383_?)del
|
|
|
|
NC_000001.11:g.(?_23691824)_(23696373_?)del
|
|
|
|
NC_000001.11:g.(?_23695788)_(23696383_?)del
|
|
|
|
NC_000001.11:g.(?_43349253)_(43349369_?)del
|
|
|
|
NC_000001.11:g.(?_45500323)_(45509225_?)del
|
|
|
|
NC_000001.11:g.(?_92832109)_(92833666_?)del
|
|
|
|
NC_000001.11:g.183563586del
|
|
|
|
NC_000001.11:g.183586978del
|
rs2102934597
|
|
|
NC_000002.11:g.(?_113817016)_(113890448_?)del
|
|
|
|
NC_000002.11:g.(?_113875596)_(113875625_?)del
|
|
|
|
NC_000002.11:g.(?_127806102)_(129076137_?)del
|
|
|
|
NC_000002.11:g.(?_128175983)_(128184818_?)del
|
|
|
|
NC_000002.11:g.(?_150426488)_(150426702_?)del
|
|
|
|
NC_000002.11:g.(?_150426488)_(150443611_?)del
|
|
|
|
NC_000002.11:g.(?_150438631)_(150438795_?)del
|
|
|
|
NC_000002.11:g.(?_150443583)_(150443611_?)del
|
|
|
|
NC_000002.11:g.(?_150443583)_(150443631_?)del
|
|
|
|
NC_000002.11:g.(?_201943606)_(204824322_?)del
|
|
|
|
NC_000002.11:g.(?_204730944)_(204824322_?)del
|
|
|
|
NC_000002.11:g.(?_58386900)_(58453929_?)del
|
|
|
|
NC_000002.11:g.(?_58386900)_(58459267_?)del
|
|
|
|
NC_000002.11:g.(?_58425719)_(58433394_?)del
|
|
|
|
NC_000002.11:g.(?_58431245)_(58433394_?)del
|
|
|
|
NC_000002.11:g.(?_58431245)_(58468448_?)del
|
|
|
|
NC_000002.11:g.(?_58449057)_(58453929_?)del
|
|
|
|
NC_000002.11:g.(?_58449057)_(58468448_?)del
|
|
|
|
NC_000002.11:g.(?_58456939)_(58457019_?)del
|
|
|
|
NC_000002.11:g.(?_58459169)_(58468448_?)del
|
|
|
|
NC_000002.11:g.(?_58468333)_(58468448_?)del
|
|
|
|
NC_000002.12:g.(?_113116893)_(113135016_?)del
|
|
|
|
NC_000002.12:g.(?_149569954)_(149587117_?)del
|
|
|
|
NC_000002.12:g.(?_149569964)_(149587107_?)del
|
|
|
|
NC_000002.12:g.(?_203866796)_(203959619_?)del
|
|
|
|
NC_000002.12:g.(?_58159755)_(58241323_?)del
|
|
|
|
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
|
|
|
|
NC_000002.12:g.58232113del
|
|
|
|
NC_000003.11:g.(?_10070342)_(10070425_?)del
|
|
|
|
NC_000003.11:g.(?_10070342)_(10074666_?)del
|
|
|
|
NC_000003.11:g.(?_10070342)_(10085296_?)del
|
|
|
|
NC_000003.11:g.(?_10070342)_(10094191_?)del
|
|
|
|
NC_000003.11:g.(?_10070342)_(10094201_?)del
|
|
|
|
NC_000003.11:g.(?_10070342)_(10109021_?)del
|
|
|
|
NC_000003.11:g.(?_10070342)_(10140634_?)del
|
|
|
|
NC_000003.11:g.(?_10070342)_(10191719_?)del
|
|
|
|
NC_000003.11:g.(?_10074510)_(10085282_?)del
|
|
|
|
NC_000003.11:g.(?_10080953)_(10085558_?)del
|
|
|
|
NC_000003.11:g.(?_10083287)_(10085296_?)del
|
|
|
|
NC_000003.11:g.(?_10083287)_(10085568_?)del
|
|
|
|
NC_000003.11:g.(?_10084223)_(10094201_?)del
|
|
|
|
NC_000003.11:g.(?_10105456)_(10107198_?)del
|
|
|
|
NC_000003.11:g.(?_10105466)_(10107188_?)del
|
|
|
|
NC_000003.11:g.(?_10108063)_(10114567_?)del
|
|
|
|
NC_000003.11:g.(?_10114535)_(10115066_?)del
|
|
|
|
NC_000003.11:g.(?_10114535)_(10119901_?)del
|
|
|
|
NC_000003.11:g.(?_10127476)_(10136978_?)del
|
|
|
|
NC_000003.11:g.(?_10130113)_(10133956_?)del
|
|
|
|
NC_000003.11:g.(?_10131956)_(10132089_?)del
|
|
|
|
NC_000003.11:g.(?_10180443)_(10183830_?)del
|
|
|
|
NC_000003.11:g.(?_10183532)_(10188330_?)del
|
|
|
|
NC_000003.11:g.(?_10183579)_(10185909_?)del
|
|
|
|
NC_000003.11:g.(?_10183598)_(10206573_?)del
|
|
|
|
NC_000003.11:g.(?_10184445)_(10188340_?)del
|
|
|
|
NC_000003.11:g.(?_127771396)_(128205874_?)del
|
|
|
|
NC_000003.11:g.(?_148447967)_(149678891_?)del
|
|
|
|
NC_000003.11:g.(?_148939414)_(148939579_?)del
|
|
|
|
NC_000003.11:g.(?_197401889)_(197682644_?)del
|
|
|
|
NC_000003.11:g.(?_3170725)_(3189838_?)del
|
|
|
|
NC_000003.11:g.(?_3186248)_(3189838_?)del
|
|
|
|
NC_000003.11:g.(?_93593089)_(93845334_?)del
|
|
|
|
NC_000003.11:g.(?_93595790)_(93596055_?)del
|
|
|
|
NC_000003.11:g.(?_93597987)_(93598178_?)del
|
|
|
|
NC_000003.11:g.(?_93605147)_(93617433_?)del
|
|
|
|
NC_000003.11:g.(?_93615400)_(93617433_?)del
|
|
|
|
NC_000003.11:g.(?_93629453)_(93692783_?)del
|
|
|
|
NC_000003.11:g.10094065-?_10191654+?del
|
|
|
|
NC_000003.11:g.10106407-?_10191654+?del
|
|
|
|
NC_000003.12:g.(?_10028648)_(10043874_?)del
|
|
|
|
NC_000003.12:g.(?_10028648)_(10046733_?)del
|
|
|
|
NC_000003.12:g.(?_10052377)_(10149975_?)del
|
|
|
|
NC_000003.12:g.(?_10052377)_(10150035_?)del
|
|
|
|
NC_000003.12:g.(?_10064723)_(10146642_?)del
|
|
|
|
NC_000003.12:g.(?_10064723)_(10149971_?)del
|
|
|
|
NC_000003.12:g.(?_10072861)_(10150035_?)del
|
|
|
|
NC_000003.12:g.(?_10141635)_(10142187_?)del
|
|
|
|
NC_000003.12:g.(?_10141635)_(10153670_?)del
|
|
|
|
NC_000003.12:g.(?_10141828)_(10146656_?)del
|
|
|
|
NC_000003.12:g.(?_10141838)_(10142197_?)del
|
|
|
|
NC_000003.12:g.(?_10141838)_(10149975_?)del
|
|
|
|
NC_000003.12:g.(?_10141848)_(10142197_?)del
|
|
|
|
NC_000003.12:g.(?_10141848)_(10143024_?)del
|
|
|
|
NC_000003.12:g.(?_10146504)_(10146646_?)del
|
|
|
|
NC_000003.12:g.(?_10146504)_(10149975_?)del
|
|
|
|
NC_000003.12:g.(?_10146504)_(10150035_?)del
|
|
|
|
NC_000003.12:g.(?_10146508)_(10149971_?)del
|
|
|
|
NC_000003.12:g.(?_10146514)_(10146636_?)del
|
|
|
|
NC_000003.12:g.(?_10149777)_(10149975_?)del
|
|
|
|
NC_000003.12:g.(?_10149777)_(10150035_?)del
|
|
|
|
NC_000003.12:g.(?_128479422)_(128487076_?)del
|
|
|
|
NC_000003.12:g.(?_128480999)_(128912627_?)del
|
|
|
|
NC_000003.12:g.(?_128486793)_(128487041_?)del
|
|
|
|
NC_000003.12:g.(?_149206148)_(149206359_?)del
|
|
|
|
NC_000003.12:g.(?_197950958)_(197955783_?)del
|
|
|
|
NC_000003.12:g.(?_197950962)_(197955779_?)del
|
|
|
|
NC_000003.12:g.(?_93874239)_(94053268_?)del
|
|
|
|
NC_000003.12:g.(?_93879163)_(93879314_?)del
|
|
|
|
NC_000003.12:g.(?_93924230)_(93973939_?)del
|
|
|
|
NC_000004.11:g.(?_151336570)_(151520303_?)del
|
|
|
|
NC_000004.11:g.(?_151388805)_(151392911_?)del
|
|
|
|
NC_000004.11:g.(?_151504182)_(151656538_?)del
|
|
|
|
NC_000004.11:g.(?_151604683)_(151604889_?)del
|
|
|
|
NC_000004.11:g.(?_151682915)_(151719314_?)del
|
|
|
|
NC_000004.11:g.(?_151719213)_(151749793_?)del
|
|
|
|
NC_000004.11:g.(?_151769950)_(151793927_?)del
|
|
|
|
NC_000004.11:g.(?_151792477)_(151793927_?)del
|
|
|
|
NC_000004.11:g.(?_151814184)_(151814321_?)del
|
|
|
|
NC_000004.12:g.(?_150310209)_(150350179_?)del
|
|
|
|
NC_000004.12:g.(?_150415418)_(150817277_?)del
|
|
|
|
NC_000004.12:g.(?_150588028)_(150735386_?)del
|
|
|
|
NC_000004.12:g.(?_150683531)_(150761867_?)del
|
|
|
|
NC_000004.12:g.(?_150735238)_(150735386_?)del
|
|
|
|
NC_000004.12:g.(?_150761763)_(150761867_?)del
|
|
|
|
NC_000004.12:g.(?_150893032)_(150897838_?)del
|
|
|
|
NC_000005.10:g.(?_78089373)_(78141339_?)del
|
|
|
|
NC_000005.10:g.(?_7869114)_(7900078_?)del
|
|
|
|
NC_000005.10:g.(?_7877934)_(7878332_?)del
|
|
|
|
NC_000005.9:g.(?_147443360)_(147484583_?)del
|
|
|
|
NC_000005.9:g.(?_147443608)_(147484583_?)del
|
|
|
|
NC_000005.9:g.(?_76115008)_(78281071_?)del
|
|
|
|
NC_000005.9:g.(?_77590256)_(77590403_?)del
|
|
|
|
NC_000005.9:g.(?_7870908)_(7871056_?)del
|
|
|
|
NC_000005.9:g.(?_7870908)_(7900171_?)del
|
|
|
|
NC_000005.9:g.(?_7875361)_(7875498_?)del
|
|
|
|
NC_000005.9:g.(?_7891465)_(7891547_?)del
|
|
|
|
NC_000005.9:g.(?_7892820)_(7893046_?)del
|
|
|
|
NC_000006.11:g.(?_35420323)_(35420590_?)del
|
|
|
|
NC_000006.11:g.(?_70386050)_(71012627_?)del
|
|
|
|
NC_000006.11:g.(?_70459213)_(70462268_?)del
|
|
|
|
NC_000006.12:g.69780555del
|
|
|
|
NC_000008.10:g.(?_100025484)_(100026173_?)del
|
|
|
|
NC_000008.10:g.(?_100026017)_(100026183_?)del
|
|
|
|
NC_000008.10:g.(?_100026017)_(100887894_?)del
|
|
|
|
NC_000008.10:g.(?_100050631)_(100115368_?)del
|
|
|
|
NC_000008.10:g.(?_100050631)_(100155413_?)del
|
|
|
|
NC_000008.10:g.(?_100050631)_(100205305_?)del
|
|
|
|
NC_000008.10:g.(?_100108520)_(100108680_?)del
|
|
|
|
NC_000008.10:g.(?_100108520)_(100115368_?)del
|
|
|
|
NC_000008.10:g.(?_100108520)_(100155413_?)dup
|
|
|
|
NC_000008.10:g.(?_100108520)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100128112_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100155403_?)dup
|
|
|
|
NC_000008.10:g.(?_100108530)_(100182401_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100205295_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100494040_?)del
|
|
|
|
NC_000008.10:g.(?_100115161)_(100123527_?)del
|
|
|
|
NC_000008.10:g.(?_100115944)_(100711757_?)del
|
|
|
|
NC_000008.10:g.(?_100123306)_(100168991_?)del
|
|
|
|
NC_000008.10:g.(?_100123306)_(100182411_?)del
|
|
|
|
NC_000008.10:g.(?_100123306)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100123316)_(100123517_?)del
|
|
|
|
NC_000008.10:g.(?_100127908)_(100287502_?)del
|
|
|
|
NC_000008.10:g.(?_100133385)_(100133693_?)del
|
|
|
|
NC_000008.10:g.(?_100133395)_(100134000_?)del
|
|
|
|
NC_000008.10:g.(?_100146840)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100146850)_(100221906_?)del
|
|
|
|
NC_000008.10:g.(?_100146850)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100146850)_(100533248_?)del
|
|
|
|
NC_000008.10:g.(?_100147223)_(100155413_?)del
|
|
|
|
NC_000008.10:g.(?_100155192)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100160049)_(100160258_?)del
|
|
|
|
NC_000008.10:g.(?_100160049)_(100168991_?)del
|
|
|
|
NC_000008.10:g.(?_100168757)_(100205305_?)del
|
|
|
|
NC_000008.10:g.(?_100182247)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100182247)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100182257)_(100221906_?)del
|
|
|
|
NC_000008.10:g.(?_100182257)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100182257)_(100479872_?)del
|
|
|
|
NC_000008.10:g.(?_100205084)_(100205305_?)del
|
|
|
|
NC_000008.10:g.(?_100205084)_(100454883_?)del
|
|
|
|
NC_000008.10:g.(?_100205084)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100205094)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100205094)_(100733285_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100494050_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100515198_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100520159_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100523760_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100533258_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100874194_?)del
|
|
|
|
NC_000008.10:g.(?_100286416)_(100454873_?)del
|
|
|
|
NC_000008.10:g.(?_100286416)_(100568891_?)del
|
|
|
|
NC_000008.10:g.(?_100286416)_(100673729_?)del
|
|
|
|
NC_000008.10:g.(?_100286416)_(100821768_?)del
|
|
|
|
NC_000008.10:g.(?_100396416)_(100396565_?)del
|
|
|
|
NC_000008.10:g.(?_100396416)_(100443912_?)del
|
|
|
|
NC_000008.10:g.(?_100396416)_(100479882_?)del
|
|
|
|
NC_000008.10:g.(?_100396416)_(100515198_?)del
|
|
|
|
NC_000008.10:g.(?_100396426)_(100403942_?)del
|
|
|
|
NC_000008.10:g.(?_100396426)_(100454873_?)del
|
|
|
|
NC_000008.10:g.(?_100396426)_(100523750_?)del
|
|
|
|
NC_000008.10:g.(?_100396426)_(100589871_?)del
|
|
|
|
NC_000008.10:g.(?_100403765)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100443745)_(100443912_?)del
|
|
|
|
NC_000008.10:g.(?_100443745)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100443755)_(100568891_?)del
|
|
|
|
NC_000008.10:g.(?_100454609)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100454619)_(100533248_?)del
|
|
|
|
NC_000008.10:g.(?_100454619)_(100673729_?)del
|
|
|
|
NC_000008.10:g.(?_100479619)_(100533258_?)del
|
|
|
|
NC_000008.10:g.(?_100479622)_(100479882_?)del
|
|
|
|
NC_000008.10:g.(?_100479622)_(100533258_?)del
|
|
|
|
NC_000008.10:g.(?_100479622)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100479632)_(100494040_?)del
|
|
|
|
NC_000008.10:g.(?_100493807)_(100533258_?)del
|
|
|
|
NC_000008.10:g.(?_100493807)_(100729621_?)del
|
|
|
|
NC_000008.10:g.(?_100493817)_(100588022_?)del
|
|
|
|
NC_000008.10:g.(?_100513905)_(100514096_?)del
|
|
|
|
NC_000008.10:g.(?_100523312)_(100779218_?)del
|
|
|
|
NC_000008.10:g.(?_100533107)_(100588032_?)del
|
|
|
|
NC_000008.10:g.(?_100533107)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100533107)_(100733295_?)del
|
|
|
|
NC_000008.10:g.(?_100533117)_(100568891_?)del
|
|
|
|
NC_000008.10:g.(?_100568668)_(100568891_?)del
|
|
|
|
NC_000008.10:g.(?_100568668)_(100589871_?)del
|
|
|
|
NC_000008.10:g.(?_100568668)_(100654736_?)del
|
|
|
|
NC_000008.10:g.(?_100568668)_(100673729_?)del
|
|
|
|
NC_000008.10:g.(?_100587866)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100587866)_(100589881_?)dup
|
|
|
|
NC_000008.10:g.(?_100587866)_(100712180_?)del
|
|
|
|
NC_000008.10:g.(?_100654019)_(100673739_?)del
|
|
|
|
NC_000008.10:g.(?_100654019)_(100887894_?)del
|
|
|
|
NC_000008.10:g.(?_100654029)_(100654736_?)del
|
|
|
|
NC_000008.10:g.(?_100654029)_(100673729_?)del
|
|
|
|
NC_000008.10:g.(?_100654029)_(100712170_?)del
|
|
|
|
NC_000008.10:g.(?_100654029)_(100733285_?)del
|
|
|
|
NC_000008.10:g.(?_100711733)_(100796724_?)del
|
|
|
|
NC_000008.10:g.(?_100711743)_(100733285_?)del
|
|
|
|
NC_000008.10:g.(?_100778992)_(100779208_?)del
|
|
|
|
NC_000008.10:g.(?_100788983)_(100791279_?)del
|
|
|
|
NC_000008.10:g.(?_100830669)_(100833720_?)del
|
|
|
|
NC_000008.10:g.(?_100860984)_(100866504_?)del
|
|
|
|
NC_000008.10:g.(?_100880497)_(100887894_?)del
|
|
|
|
NC_000008.10:g.(?_100882993)_(100883945_?)del
|
|
|
|
NC_000008.10:g.(?_100883666)_(100883935_?)del
|
|
|
|
NC_000008.10:g.(?_99346108)_(100589843_?)del
|
|
|
|
NC_000008.10:g.(?_99594279)_(100513908_?)del
|
|
|
|
NC_000008.11:g.(?_99013769)_(99209688_?)del
|
|
|
|
NC_000008.11:g.(?_99096292)_(99193077_?)del
|
|
|
|
NC_000008.11:g.(?_99096292)_(99577653_?)del
|
|
|
|
NC_000008.11:g.(?_99096302)_(99136762_?)del
|
|
|
|
NC_000008.11:g.(?_99096302)_(99556663_?)del
|
|
|
|
NC_000008.11:g.(?_99102953)_(99170163_?)del
|
|
|
|
NC_000008.11:g.(?_99111088)_(99170173_?)del
|
|
|
|
NC_000008.11:g.(?_99115680)_(99193077_?)del
|
|
|
|
NC_000008.11:g.(?_99121157)_(99193077_?)del
|
|
|
|
NC_000008.11:g.(?_99121167)_(99721057_?)del
|
|
|
|
NC_000008.11:g.(?_99134612)_(99136772_?)del
|
|
|
|
NC_000008.11:g.(?_99135005)_(99143175_?)del
|
|
|
|
NC_000008.11:g.(?_99135015)_(99143165_?)del
|
|
|
|
NC_000008.11:g.(?_99170039)_(99170163_?)del
|
|
|
|
NC_000008.11:g.(?_99209572)_(99391724_?)del
|
|
|
|
NC_000008.11:g.(?_99274178)_(99577653_?)del
|
|
|
|
NC_000008.11:g.(?_99274178)_(99721067_?)del
|
|
|
|
NC_000008.11:g.(?_99384188)_(99511532_?)del
|
|
|
|
NC_000008.11:g.(?_99384188)_(99721067_?)del
|
|
|
|
NC_000008.11:g.(?_99391537)_(99521030_?)del
|
|
|
|
NC_000008.11:g.(?_99391557)_(99556653_?)del
|
|
|
|
NC_000008.11:g.(?_99431517)_(99721067_?)del
|
|
|
|
NC_000008.11:g.(?_99467404)_(99521020_?)del
|
|
|
|
NC_000008.11:g.(?_99481579)_(99721067_?)del
|
|
|
|
NC_000008.11:g.(?_99501677)_(99502960_?)del
|
|
|
|
NC_000008.11:g.(?_99520889)_(99521020_?)del
|
|
|
|
NC_000008.11:g.(?_99520899)_(99584089_?)del
|
|
|
|
NC_000008.11:g.(?_99556430)_(99577653_?)del
|
|
|
|
NC_000008.11:g.(?_99556430)_(99642518_?)del
|
|
|
|
NC_000008.11:g.(?_99661334)_(99661511_?)del
|
|
|
|
NC_000008.11:g.(?_99661344)_(99784486_?)del
|
|
|
|
NC_000009.11:g.(?_214957)_(286656_?)del
|
|
|
|
NC_000009.11:g.(?_214977)_(215049_?)del
|
|
|
|
NC_000009.11:g.(?_214977)_(340341_?)del
|
|
|
|
NC_000009.11:g.(?_214977)_(368155_?)del
|
|
|
|
NC_000009.11:g.(?_214977)_(377231_?)del
|
|
|
|
NC_000009.11:g.(?_214977)_(399279_?)del
|
|
|
|
NC_000009.11:g.(?_214977)_(464219_?)del
|
|
|
|
NC_000009.11:g.(?_216117)_(399130_?)del
|
|
|
|
NC_000009.11:g.(?_271607)_(289601_?)del
|
|
|
|
NC_000009.11:g.(?_271607)_(328191_?)del
|
|
|
|
NC_000009.11:g.(?_271607)_(332498_?)del
|
|
|
|
NC_000009.11:g.(?_271607)_(334404_?)del
|
|
|
|
NC_000009.11:g.(?_271607)_(370320_?)del
|
|
|
|
NC_000009.11:g.(?_271607)_(382705_?)del
|
|
|
|
NC_000009.11:g.(?_271607)_(434995_?)del
|
|
|
|
NC_000009.11:g.(?_289490)_(399279_?)del
|
|
|
|
NC_000009.11:g.(?_304561)_(414971_?)del
|
|
|
|
NC_000009.11:g.(?_311934)_(317148_?)del
|
|
|
|
NC_000009.11:g.(?_322388)_(376266_?)del
|
|
|
|
NC_000009.11:g.(?_325651)_(332498_?)del
|
|
|
|
NC_000009.11:g.(?_325651)_(336738_?)del
|
|
|
|
NC_000009.11:g.(?_325651)_(386446_?)del
|
|
|
|
NC_000009.11:g.(?_334205)_(334404_?)del
|
|
|
|
NC_000009.11:g.(?_334205)_(452137_?)del
|
|
|
|
NC_000009.11:g.(?_36227225)_(36276941_?)del
|
|
|
|
NC_000009.11:g.(?_36227235)_(36227465_?)del
|
|
|
|
NC_000009.11:g.(?_36245958)_(36249414_?)del
|
|
|
|
NC_000009.11:g.(?_36246008)_(36276941_?)del
|
|
|
|
NC_000009.11:g.(?_36246018)_(36246489_?)del
|
|
|
|
NC_000009.11:g.(?_367998)_(464219_?)del
|
|
|
|
NC_000009.11:g.(?_376190)_(377231_?)del
|
|
|
|
NC_000009.11:g.(?_386311)_(407089_?)del
|
|
|
|
NC_000009.11:g.(?_386311)_(422155_?)del
|
|
|
|
NC_000009.11:g.(?_390451)_(422155_?)del
|
|
|
|
NC_000009.11:g.(?_396765)_(407089_?)del
|
|
|
|
NC_000009.11:g.(?_399126)_(422155_?)del
|
|
|
|
NC_000009.11:g.(?_426865)_(427001_?)del
|
|
|
|
NC_000009.11:g.(?_426865)_(429874_?)del
|
|
|
|
NC_000009.11:g.(?_97861619)_(97869538_?)del
|
|
|
|
NC_000009.11:g.(?_97863979)_(97934439_?)del
|
|
|
|
NC_000009.11:g.(?_97863989)_(97864152_?)del
|
|
|
|
NC_000009.11:g.(?_97873735)_(97897794_?)del
|
|
|
|
NC_000009.11:g.(?_97876901)_(97879682_?)del
|
|
|
|
NC_000009.11:g.(?_97887348)_(97887487_?)del
|
|
|
|
NC_000009.11:g.(?_97897618)_(97912379_?)del
|
|
|
|
NC_000009.11:g.(?_98002921)_(98011661_?)del
|
|
|
|
NC_000009.11:g.(?_98009694)_(98011661_?)del
|
|
|
|
NC_000009.11:g.(?_98009704)_(98009808_?)del
|
|
|
|
NC_000009.12:g.(?_214957)_(215049_?)del
|
|
|
|
NC_000009.12:g.(?_214957)_(328191_?)del
|
|
|
|
NC_000009.12:g.(?_214957)_(422155_?)del
|
|
|
|
NC_000009.12:g.(?_214957)_(464239_?)del
|
|
|
|
NC_000009.12:g.(?_271607)_(340341_?)del
|
|
|
|
NC_000009.12:g.(?_271607)_(452137_?)del
|
|
|
|
NC_000009.12:g.(?_286441)_(464239_?)del
|
|
|
|
NC_000009.12:g.(?_304561)_(399279_?)del
|
|
|
|
NC_000009.12:g.(?_304561)_(464239_?)del
|
|
|
|
NC_000009.12:g.(?_332378)_(334404_?)del
|
|
|
|
NC_000009.12:g.(?_334205)_(340341_?)del
|
|
|
|
NC_000009.12:g.(?_336562)_(386446_?)del
|
|
|
|
NC_000009.12:g.(?_35076714)_(35077111_?)del
|
|
|
|
NC_000009.12:g.(?_36276884)_(36277052_?)del
|
|
|
|
NC_000009.12:g.(?_370210)_(452137_?)del
|
|
|
|
NC_000009.12:g.(?_95101700)_(95508367_?)del
|
|
|
|
NC_000009.12:g.(?_95101707)_(95317709_?)del
|
|
|
|
NC_000009.12:g.(?_95114619)_(95114720_?)del
|
|
|
|
NC_000009.12:g.(?_95135336)_(95135512_?)del
|
|
|
|
NC_000009.12:g.(?_95135336)_(95249379_?)del
|
|
|
|
NC_000009.12:g.(?_95149913)_(95172157_?)del
|
|
|
|
NC_000009.12:g.(?_95240639)_(95240753_?)del
|
|
|
|
NC_000009.12:g.35079242del
|
|
|
|
NC_000010.10:g.(?_16961942)_(16970322_?)del
|
|
|
|
NC_000010.10:g.(?_17151619)_(17157616_?)del
|
|
|
|
NC_000010.11:g.(?_78033902)_(78033914_?)del
|
|
|
|
NC_000010.11:g.(?_96271332)_(96271418_?)del
|
|
|
|
NC_000010.11:g.96242785del
|
rs1554906579
|
|
|
NC_000011.10:g.(?_119024900)_(119029379_?)del
|
|
|
|
NC_000011.10:g.(?_119028174)_(119029389_?)del
|
|
|
|
NC_000011.10:g.(?_3856251)_(4091818_?)del
|
|
|
|
NC_000011.10:g.(?_4059271)_(4059406_?)del
|
|
|
|
NC_000011.9:g.(?_118897293)_(118897825_?)del
|
|
|
|
NC_000011.9:g.(?_118899922)_(118900089_?)del
|
|
|
|
NC_000011.9:g.(?_22646232)_(22647356_?)del
|
|
|
|
NC_000011.9:g.(?_3988762)_(4113028_?)del
|
|
|
|
NC_000011.9:g.(?_4076736)_(4076887_?)del
|
|
|
|
NC_000011.9:g.(?_45827353)_(47804770_?)del
|
|
|
|
NC_000011.9:g.(?_88027174)_(88033833_?)del
|
|
|
|
NC_000011.9:g.(?_88027174)_(88070840_?)del
|
|
|
|
NC_000011.9:g.(?_88027619)_(88030969_?)del
|
|
|
|
NC_000011.9:g.(?_88033678)_(88033833_?)del
|
|
|
|
NC_000011.9:g.(?_88040961)_(88042398_?)del
|
|
|
|
NC_000011.9:g.(?_88045475)_(88071056_?)del
|
|
|
|
NC_000011.9:g.(?_88045536)_(88045742_?)del
|
|
|
|
NC_000011.9:g.(?_88045536)_(88070840_?)del
|
|
|
|
NC_000012.11:g.(?_48535509)_(48538245_?)del
|
|
|
|
NC_000012.11:g.(?_56396006)_(56437938_?)del
|
|
|
|
NC_000012.11:g.(?_8756880)_(8765363_?)del
|
|
|
|
NC_000012.11:g.(?_8765336)_(8765363_?)del
|
|
|
|
NC_000012.12:g.(?_8456112)_(8612767_?)del
|
|
|
|
NC_000012.12:g.(?_8604264)_(8612787_?)del
|
|
|
|
NC_000014.8:g.(?_103389228)_(103394842_?)del
|
|
|
|
NC_000014.8:g.(?_23586696)_(23902941_?)del
|
|
|
|
NC_000014.8:g.(?_44820816)_(45645917_?)del
|
|
|
|
NC_000014.8:g.(?_45605235)_(45609922_?)del
|
|
|
|
NC_000014.8:g.(?_45618030)_(45646189_?)del
|
|
|
|
NC_000014.8:g.(?_45636143)_(45665760_?)del
|
|
|
|
NC_000014.8:g.(?_45639782)_(45669211_?)del
|
|
|
|
NC_000014.8:g.(?_45642248)_(45669211_?)del
|
|
|
|
NC_000014.8:g.(?_74766231)_(74769615_?)del
|
|
|
|
NC_000014.9:g.(?_102870182)_(102930700_?)del
|
|
|
|
NC_000014.9:g.(?_45136032)_(45200008_?)del
|
|
|
|
NC_000014.9:g.(?_45166940)_(45167173_?)del
|
|
|
|
NC_000015.10:g.(?_55223869)_(55224032_?)del
|
|
|
|
NC_000015.10:g.(?_55223869)_(55234954_?)del
|
|
|
|
NC_000015.10:g.(?_55228589)_(55234954_?)del
|
|
|
|
NC_000015.10:g.(?_55234762)_(55234954_?)del
|
|
|
|
NC_000015.10:g.(?_89247629)_(89317131_?)del
|
|
|
|
NC_000015.10:g.(?_90747383)_(90751956_?)del
|
|
|
|
NC_000015.10:g.(?_90747393)_(90815279_?)del
|
|
|
|
NC_000015.10:g.(?_90749357)_(90765424_?)del
|
|
|
|
NC_000015.10:g.(?_90754801)_(90754948_?)del
|
|
|
|
NC_000015.10:g.(?_90769123)_(90769596_?)del
|
|
|
|
NC_000015.10:g.(?_90782812)_(90785091_?)del
|
|
|
|
NC_000015.10:g.(?_90790639)_(90790854_?)del
|
|
|
|
NC_000015.10:g.(?_90790643)_(90790850_?)del
|
|
|
|
NC_000015.10:g.(?_90811195)_(90811416_?)del
|
|
|
|
NC_000015.10:g.55224013del
|
|
|
|
NC_000015.9:g.(?_45884313)_(45898712_?)del
|
|
|
|
NC_000015.9:g.(?_55497685)_(55527152_?)del
|
|
|
|
NC_000015.9:g.(?_55520787)_(55522704_?)del
|
|
|
|
NC_000015.9:g.(?_55522579)_(55522704_?)del
|
|
|
|
NC_000015.9:g.(?_55526960)_(55613608_?)del
|
|
|
|
NC_000015.9:g.(?_89379429)_(91312836_?)del
|
|
|
|
NC_000015.9:g.(?_89790873)_(89876991_?)del
|
|
|
|
NC_000015.9:g.(?_89790879)_(89805129_?)del
|
|
|
|
NC_000015.9:g.(?_89790879)_(89807858_?)del
|
|
|
|
NC_000015.9:g.(?_89790879)_(89811776_?)del
|
|
|
|
NC_000015.9:g.(?_89801915)_(89802027_?)del
|
|
|
|
NC_000015.9:g.(?_89801915)_(89805129_?)del
|
|
|
|
NC_000015.9:g.(?_89804796)_(89807858_?)del
|
|
|
|
NC_000015.9:g.(?_89824391)_(89828459_?)del
|
|
|
|
NC_000015.9:g.(?_89828307)_(89876985_?)del
|
|
|
|
NC_000015.9:g.(?_89840554)_(89848657_?)del
|
|
|
|
NC_000015.9:g.(?_89847877)_(89848838_?)del
|
|
|
|
NC_000015.9:g.(?_89858493)_(89860078_?)del
|
|
|
|
NC_000015.9:g.(?_91289802)_(91292950_?)del
|
|
|
|
NC_000015.9:g.(?_91290613)_(91312826_?)del
|
|
|
|
NC_000015.9:g.(?_91290613)_(91354646_?)del
|
|
|
|
NC_000015.9:g.(?_91290623)_(91290730_?)del
|
|
|
|
NC_000015.9:g.(?_91290623)_(91293317_?)del
|
|
|
|
NC_000015.9:g.(?_91290623)_(91298188_?)del
|
|
|
|
NC_000015.9:g.(?_91290623)_(91308654_?)del
|
|
|
|
NC_000015.9:g.(?_91290623)_(91341587_?)del
|
|
|
|
NC_000015.9:g.(?_91295007)_(91295186_?)del
|
|
|
|
NC_000015.9:g.(?_91298021)_(91298188_?)del
|
|
|
|
NC_000015.9:g.(?_91303357)_(91312836_?)del
|
|
|
|
NC_000015.9:g.(?_91312656)_(91316451_?)del
|
|
|
|
NC_000015.9:g.(?_91326032)_(91326178_?)del
|
|
|
|
NC_000015.9:g.(?_91333859)_(91334094_?)del
|
|
|
|
NC_000015.9:g.(?_91333859)_(91337607_?)del
|
|
|
|
NC_000015.9:g.(?_91337387)_(91354646_?)del
|
|
|
|
NC_000015.9:g.(?_91341410)_(91341577_?)del
|
|
|
|
NC_000016.10:g.(?_13920156)_(13948357_?)del
|
|
|
|
NC_000016.10:g.(?_13928022)_(13928241_?)del
|
|
|
|
NC_000016.10:g.(?_3606464)_(3608974_?)del
|
|
|
|
NC_000016.10:g.(?_3608430)_(3609566_?)del
|
|
|
|
NC_000016.10:g.(?_88643329)_(88643581_?)del
|
|
|
|
NC_000016.10:g.(?_88643329)_(88648134_?)del
|
|
|
|
NC_000016.10:g.(?_88646106)_(88647185_?)del
|
|
|
|
NC_000016.10:g.(?_89738591)_(89742948_?)del
|
|
|
|
NC_000016.10:g.(?_89738591)_(89762032_?)del
|
|
|
|
NC_000016.10:g.(?_89738591)_(89816625_?)del
|
|
|
|
NC_000016.10:g.(?_89738591)_(89920222_?)del
|
|
|
|
NC_000016.10:g.(?_89748641)_(89758720_?)del
|
|
|
|
NC_000016.10:g.(?_89748641)_(89765076_?)del
|
|
|
|
NC_000016.10:g.(?_89748649)_(89758715_?)del
|
|
|
|
NC_000016.10:g.(?_89748649)_(89765076_?)del
|
|
|
|
NC_000016.10:g.(?_89752128)_(89792557_?)del
|
|
|
|
NC_000016.10:g.(?_89752128)_(89808377_?)del
|
|
|
|
NC_000016.10:g.(?_89752128)_(89816625_?)del
|
|
|
|
NC_000016.10:g.(?_89752138)_(89792547_?)del
|
|
|
|
NC_000016.10:g.(?_89758567)_(89784974_?)del
|
|
|
|
NC_000016.10:g.(?_89758567)_(89808377_?)del
|
|
|
|
NC_000016.10:g.(?_89758571)_(89784970_?)del
|
|
|
|
NC_000016.10:g.(?_89761939)_(89765076_?)del
|
|
|
|
NC_000016.10:g.(?_89761939)_(89816616_?)del
|
|
|
|
NC_000016.10:g.(?_89761943)_(89920218_?)del
|
|
|
|
NC_000016.10:g.(?_89764807)_(89775825_?)del
|
|
|
|
NC_000016.10:g.(?_89764807)_(89805402_?)del
|
|
|
|
NC_000016.10:g.(?_89764880)_(89773394_?)del
|
|
|
|
NC_000016.10:g.(?_89767131)_(89784974_?)del
|
|
|
|
NC_000016.10:g.(?_89767131)_(89799648_?)del
|
|
|
|
NC_000016.10:g.(?_89767135)_(89816621_?)del
|
|
|
|
NC_000016.10:g.(?_89775736)_(89775821_?)del
|
|
|
|
NC_000016.10:g.(?_89778791)_(89779967_?)del
|
|
|
|
NC_000016.10:g.(?_89778791)_(89816625_?)del
|
|
|
|
NC_000016.10:g.(?_89782849)_(89796028_?)del
|
|
|
|
NC_000016.10:g.(?_89782853)_(89784970_?)del
|
|
|
|
NC_000016.10:g.(?_89784844)_(89784974_?)del
|
|
|
|
NC_000016.10:g.(?_89791393)_(89796028_?)del
|
|
|
|
NC_000016.10:g.(?_89791393)_(89811081_?)del
|
|
|
|
NC_000016.10:g.(?_89791397)_(89792553_?)del
|
|
|
|
NC_000016.10:g.(?_89791402)_(89816615_?)del
|
|
|
|
NC_000016.10:g.(?_89791403)_(89796018_?)del
|
|
|
|
NC_000016.10:g.(?_89798246)_(89799648_?)del
|
|
|
|
NC_000016.10:g.(?_89799156)_(89799648_?)del
|
|
|
|
NC_000016.10:g.(?_89803249)_(89808377_?)del
|
|
|
|
NC_000016.10:g.(?_89803249)_(89811081_?)del
|
|
|
|
NC_000016.10:g.(?_89808284)_(89816616_?)del
|
|
|
|
NC_000016.10:g.(?_89808284)_(89816625_?)del
|
|
|
|
NC_000016.10:g.(?_89810697)_(89816616_?)del
|
|
|
|
NC_000016.10:g.(?_89810701)_(89816621_?)del
|
|
|
|
NC_000016.10:g.(?_89814510)_(89816625_?)del
|
|
|
|
NC_000016.10:g.(?_89814514)_(89816621_?)del
|
|
|
|
NC_000016.10:g.(?_89815867)_(89816625_?)del
|
|
|
|
NC_000016.10:g.89746689dup
|
|
|
|
NC_000016.9:g.(?_14020398)_(14022112_?)del
|
|
|
|
NC_000016.9:g.(?_14028029)_(14031735_?)del
|
|
|
|
NC_000016.9:g.(?_14038570)_(14038702_?)del
|
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)del
|
|
|
|
NC_000016.9:g.(?_3632343)_(3633531_?)del
|
|
|
|
NC_000016.9:g.(?_3632343)_(3658965_?)del
|
|
|
|
NC_000016.9:g.(?_3634760)_(3634882_?)del
|
|
|
|
NC_000016.9:g.(?_3658425)_(3658971_?)del
|
|
|
|
NC_000016.9:g.(?_88709737)_(89220635_?)del
|
|
|
|
NC_000016.9:g.(?_88709761)_(88717421_?)del
|
|
|
|
NC_000016.9:g.(?_88712514)_(88718096_?)del
|
|
|
|
NC_000016.9:g.(?_88713143)_(88717421_?)del
|
|
|
|
NC_000016.9:g.(?_88713499)_(88714532_?)del
|
|
|
|
NC_000016.9:g.(?_88713499)_(88718353_?)del
|
|
|
|
NC_000016.9:g.(?_88717354)_(88718353_?)del
|
|
|
|
NC_000016.9:g.(?_89712474)_(89866066_?)del
|
|
|
|
NC_000016.9:g.(?_89730828)_(89858975_?)del
|
|
|
|
NC_000016.9:g.(?_89730828)_(89877489_?)del
|
|
|
|
NC_000016.9:g.(?_89804999)_(89825128_?)del
|
|
|
|
NC_000016.9:g.(?_89804999)_(89874785_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89806517_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89807294_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89816330_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89818822_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89825123_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89825133_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89833665_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89849520_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89851382_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89862436_?)del
|
|
|
|
NC_000016.9:g.(?_89805009)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89805097)_(89808330_?)del
|
|
|
|
NC_000016.9:g.(?_89805866)_(89831494_?)del
|
|
|
|
NC_000016.9:g.(?_89806382)_(89807294_?)del
|
|
|
|
NC_000016.9:g.(?_89807192)_(89809366_?)del
|
|
|
|
NC_000016.9:g.(?_89807202)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89809188)_(89825133_?)del
|
|
|
|
NC_000016.9:g.(?_89809188)_(89846385_?)del
|
|
|
|
NC_000016.9:g.(?_89809198)_(89809356_?)del
|
|
|
|
NC_000016.9:g.(?_89809198)_(89833655_?)del
|
|
|
|
NC_000016.9:g.(?_89809198)_(89842233_?)del
|
|
|
|
NC_000016.9:g.(?_89809264)_(89834808_?)del
|
|
|
|
NC_000016.9:g.(?_89811347)_(89818822_?)del
|
|
|
|
NC_000016.9:g.(?_89811347)_(89833665_?)del
|
|
|
|
NC_000016.9:g.(?_89811347)_(89849530_?)del
|
|
|
|
NC_000016.9:g.(?_89811347)_(89862446_?)del
|
|
|
|
NC_000016.9:g.(?_89811347)_(89877499_?)del
|
|
|
|
NC_000016.9:g.(?_89811357)_(89815185_?)del
|
|
|
|
NC_000016.9:g.(?_89811357)_(89842233_?)del
|
|
|
|
NC_000016.9:g.(?_89815047)_(89816330_?)del
|
|
|
|
NC_000016.9:g.(?_89815047)_(89828450_?)del
|
|
|
|
NC_000016.9:g.(?_89815047)_(89862446_?)del
|
|
|
|
NC_000016.9:g.(?_89815049)_(89815185_?)del
|
|
|
|
NC_000016.9:g.(?_89815049)_(89883033_?)del
|
|
|
|
NC_000016.9:g.(?_89815057)_(89846375_?)del
|
|
|
|
NC_000016.9:g.(?_89816056)_(89816320_?)del
|
|
|
|
NC_000016.9:g.(?_89816056)_(89849520_?)del
|
|
|
|
NC_000016.9:g.(?_89818526)_(89828450_?)del
|
|
|
|
NC_000016.9:g.(?_89818526)_(89831494_?)del
|
|
|
|
NC_000016.9:g.(?_89818526)_(89851392_?)del
|
|
|
|
NC_000016.9:g.(?_89818526)_(89874795_?)del
|
|
|
|
NC_000016.9:g.(?_89818536)_(89818822_?)del
|
|
|
|
NC_000016.9:g.(?_89818536)_(89825128_?)del
|
|
|
|
NC_000016.9:g.(?_89818536)_(89839802_?)del
|
|
|
|
NC_000016.9:g.(?_89818536)_(89846375_?)del
|
|
|
|
NC_000016.9:g.(?_89818536)_(89877489_?)del
|
|
|
|
NC_000016.9:g.(?_89824965)_(89825133_?)del
|
|
|
|
NC_000016.9:g.(?_89824965)_(89833665_?)del
|
|
|
|
NC_000016.9:g.(?_89824975)_(89828440_?)del
|
|
|
|
NC_000016.9:g.(?_89824975)_(89831484_?)del
|
|
|
|
NC_000016.9:g.(?_89824975)_(89839802_?)del
|
|
|
|
NC_000016.9:g.(?_89824975)_(89842233_?)del
|
|
|
|
NC_000016.9:g.(?_89824975)_(89883033_?)del
|
|
|
|
NC_000016.9:g.(?_89825110)_(89923062_?)del
|
|
|
|
NC_000016.9:g.(?_89828179)_(89838178_?)del
|
|
|
|
NC_000016.9:g.(?_89828337)_(89828450_?)del
|
|
|
|
NC_000016.9:g.(?_89828337)_(89877499_?)del
|
|
|
|
NC_000016.9:g.(?_89828347)_(89839802_?)del
|
|
|
|
NC_000016.9:g.(?_89828347)_(89842233_?)del
|
|
|
|
NC_000016.9:g.(?_89828347)_(89862436_?)del
|
|
|
|
NC_000016.9:g.(?_89828347)_(89874785_?)del
|
|
|
|
NC_000016.9:g.(?_89831215)_(89831494_?)del
|
|
|
|
NC_000016.9:g.(?_89831215)_(89839812_?)del
|
|
|
|
NC_000016.9:g.(?_89831215)_(89849520_?)del
|
|
|
|
NC_000016.9:g.(?_89831215)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89831292)_(89833651_?)del
|
|
|
|
NC_000016.9:g.(?_89833529)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89833539)_(89833655_?)del
|
|
|
|
NC_000016.9:g.(?_89833539)_(89839802_?)del
|
|
|
|
NC_000016.9:g.(?_89833539)_(89842233_?)del
|
|
|
|
NC_000016.9:g.(?_89833539)_(89858965_?)del
|
|
|
|
NC_000016.9:g.(?_89833539)_(89862436_?)del
|
|
|
|
NC_000016.9:g.(?_89836111)_(89839802_?)del
|
|
|
|
NC_000016.9:g.(?_89836111)_(89858965_?)del
|
|
|
|
NC_000016.9:g.(?_89836111)_(89883033_?)del
|
|
|
|
NC_000016.9:g.(?_89836225)_(89851392_?)del
|
|
|
|
NC_000016.9:g.(?_89836225)_(89869769_?)del
|
|
|
|
NC_000016.9:g.(?_89836225)_(89874795_?)del
|
|
|
|
NC_000016.9:g.(?_89836805)_(89883033_?)del
|
|
|
|
NC_000016.9:g.(?_89836962)_(89838232_?)del
|
|
|
|
NC_000016.9:g.(?_89838076)_(89842233_?)del
|
|
|
|
NC_000016.9:g.(?_89838076)_(89858965_?)del
|
|
|
|
NC_000016.9:g.(?_89838076)_(89874785_?)del
|
|
|
|
NC_000016.9:g.(?_89838076)_(89883033_?)del
|
|
|
|
NC_000016.9:g.(?_89839659)_(89845431_?)del
|
|
|
|
NC_000016.9:g.(?_89839659)_(89851392_?)del
|
|
|
|
NC_000016.9:g.(?_89839669)_(89866056_?)del
|
|
|
|
NC_000016.9:g.(?_89842130)_(89874795_?)del
|
|
|
|
NC_000016.9:g.(?_89842140)_(89842233_?)del
|
|
|
|
NC_000016.9:g.(?_89842140)_(89845421_?)del
|
|
|
|
NC_000016.9:g.(?_89842140)_(89846375_?)del
|
|
|
|
NC_000016.9:g.(?_89842140)_(89851382_?)del
|
|
|
|
NC_000016.9:g.(?_89842140)_(89866056_?)del
|
|
|
|
NC_000016.9:g.(?_89845189)_(89851392_?)del
|
|
|
|
NC_000016.9:g.(?_89845189)_(89877499_?)del
|
|
|
|
NC_000016.9:g.(?_89845199)_(89849520_?)del
|
|
|
|
NC_000016.9:g.(?_89845199)_(89866056_?)del
|
|
|
|
NC_000016.9:g.(?_89845199)_(89871810_?)del
|
|
|
|
NC_000016.9:g.(?_89845199)_(89874785_?)del
|
|
|
|
NC_000016.9:g.(?_89846267)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89849247)_(89849530_?)del
|
|
|
|
NC_000016.9:g.(?_89849247)_(89851392_?)del
|
|
|
|
NC_000016.9:g.(?_89849247)_(89858975_?)del
|
|
|
|
NC_000016.9:g.(?_89849247)_(89866066_?)del
|
|
|
|
NC_000016.9:g.(?_89849257)_(89871810_?)del
|
|
|
|
NC_000016.9:g.(?_89849257)_(89874785_?)del
|
|
|
|
NC_000016.9:g.(?_89849257)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89851242)_(89871820_?)del
|
|
|
|
NC_000016.9:g.(?_89855566)_(89858898_?)del
|
|
|
|
NC_000016.9:g.(?_89857791)_(89862446_?)del
|
|
|
|
NC_000016.9:g.(?_89857791)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89857801)_(89858965_?)del
|
|
|
|
NC_000016.9:g.(?_89857801)_(89874785_?)del
|
|
|
|
NC_000016.9:g.(?_89858869)_(89883033_?)del
|
|
|
|
NC_000016.9:g.(?_89862294)_(89862446_?)del
|
|
|
|
NC_000016.9:g.(?_89862294)_(89883023_?)del
|
|
|
|
NC_000016.9:g.(?_89862294)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89862304)_(89866056_?)del
|
|
|
|
NC_000016.9:g.(?_89862304)_(89869759_?)del
|
|
|
|
NC_000016.9:g.(?_89864654)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89864654)_(89883033_?)del
|
|
|
|
NC_000016.9:g.(?_89865554)_(90109753_?)del
|
|
|
|
NC_000016.9:g.(?_89869647)_(89869769_?)del
|
|
|
|
NC_000016.9:g.(?_89869647)_(89883023_?)del
|
|
|
|
NC_000016.9:g.(?_89869657)_(89871810_?)del
|
|
|
|
NC_000016.9:g.(?_89871668)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89871672)_(89880557_?)del
|
|
|
|
NC_000016.9:g.(?_89871678)_(89877489_?)del
|
|
|
|
NC_000016.9:g.(?_89871693)_(89878808_?)del
|
|
|
|
NC_000016.9:g.(?_89874682)_(89874795_?)del
|
|
|
|
NC_000016.9:g.(?_89874682)_(90002212_?)del
|
|
|
|
NC_000016.9:g.(?_89874692)_(89881031_?)del
|
|
|
|
NC_000016.9:g.(?_89877095)_(89883024_?)del
|
|
|
|
NC_000016.9:g.(?_89877105)_(89877489_?)del
|
|
|
|
NC_000016.9:g.(?_89880908)_(89883023_?)del
|
|
|
|
NC_000016.9:g.(?_89880918)_(89881031_?)del
|
|
|
|
NC_000017.10:g.(?_16842861)_(16843845_?)del
|
|
|
|
NC_000017.10:g.(?_16852032)_(16852317_?)del
|
|
|
|
NC_000017.10:g.(?_16875309)_(16875389_?)del
|
|
|
|
NC_000017.10:g.(?_42151508)_(42153411_?)del
|
|
|
|
NC_000017.10:g.(?_42454357)_(42456098_?)del
|
|
|
|
NC_000017.10:g.(?_56769920)_(56811662_?)del
|
|
|
|
NC_000017.10:g.(?_56769986)_(56772560_?)del
|
|
|
|
NC_000017.10:g.(?_56769986)_(56774230_?)del
|
|
|
|
NC_000017.10:g.(?_56769999)_(56787357_?)del
|
|
|
|
NC_000017.10:g.(?_56770005)_(56787371_?)del
|
|
|
|
NC_000017.10:g.(?_56770005)_(56811583_?)del
|
|
|
|
NC_000017.10:g.(?_56772282)_(56772560_?)del
|
|
|
|
NC_000017.10:g.(?_56774044)_(56774230_?)del
|
|
|
|
NC_000017.10:g.(?_56780537)_(56780710_?)del
|
|
|
|
NC_000017.10:g.(?_56780537)_(56787371_?)del
|
|
|
|
NC_000017.10:g.(?_56780547)_(56787361_?)del
|
|
|
|
NC_000017.10:g.(?_56780551)_(56787357_?)del
|
|
|
|
NC_000017.10:g.(?_56787200)_(56787371_?)del
|
|
|
|
NC_000017.10:g.(?_56787200)_(56811583_?)del
|
|
|
|
NC_000017.10:g.(?_56798097)_(56798183_?)del
|
|
|
|
NC_000017.10:g.(?_56798097)_(56801482_?)del
|
|
|
|
NC_000017.10:g.(?_56809825)_(56809925_?)del
|
|
|
|
NC_000017.10:g.(?_56809825)_(56811583_?)del
|
|
|
|
NC_000017.10:g.(?_56809835)_(56809915_?)del
|
|
|
|
NC_000017.10:g.(?_59722701)_(59807862_?)del
|
|
|
|
NC_000017.10:g.(?_59760657)_(59761511_?)del
|
|
|
|
NC_000017.10:g.(?_59760657)_(59761521_?)del
|
|
|
|
NC_000017.10:g.(?_59760657)_(59763536_?)del
|
|
|
|
NC_000017.10:g.(?_59760657)_(59770883_?)del
|
|
|
|
NC_000017.10:g.(?_59760657)_(59821962_?)del
|
|
|
|
NC_000017.10:g.(?_59760657)_(59861805_?)del
|
|
|
|
NC_000017.10:g.(?_59760657)_(59871100_?)del
|
|
|
|
NC_000017.10:g.(?_59760657)_(59934602_?)del
|
|
|
|
NC_000017.10:g.(?_59770781)_(59770883_?)del
|
|
|
|
NC_000017.10:g.(?_59770781)_(59938900_?)del
|
|
|
|
NC_000017.10:g.(?_59820364)_(59886128_?)del
|
|
|
|
NC_000017.10:g.(?_59853752)_(59858376_?)del
|
|
|
|
NC_000017.10:g.(?_59857602)_(59861805_?)del
|
|
|
|
NC_000017.10:g.(?_59857612)_(59857772_?)del
|
|
|
|
NC_000017.10:g.(?_59857612)_(59858376_?)del
|
|
|
|
NC_000017.10:g.(?_59858191)_(59858864_?)del
|
|
|
|
NC_000017.10:g.(?_59858191)_(59938900_?)del
|
|
|
|
NC_000017.10:g.(?_59861611)_(59861805_?)del
|
|
|
|
NC_000017.10:g.(?_59861621)_(59861795_?)del
|
|
|
|
NC_000017.10:g.(?_59861717)_(59987228_?)del
|
|
|
|
NC_000017.10:g.(?_59861718)_(59940920_?)del
|
|
|
|
NC_000017.10:g.(?_59870948)_(59871100_?)del
|
|
|
|
NC_000017.10:g.(?_59876451)_(59886128_?)del
|
|
|
|
NC_000017.10:g.(?_59878594)_(59878855_?)del
|
|
|
|
NC_000017.10:g.(?_59878795)_(59946639_?)del
|
|
|
|
NC_000017.10:g.(?_59924442)_(59926637_?)del
|
|
|
|
NC_000017.10:g.(?_59924452)_(59938900_?)del
|
|
|
|
NC_000017.10:g.(?_59926480)_(59926627_?)del
|
|
|
|
NC_000017.10:g.(?_59926480)_(59934602_?)del
|
|
|
|
NC_000017.10:g.(?_59937147)_(59937278_?)del
|
|
|
|
NC_000017.10:g.(?_59937147)_(59938900_?)del
|
|
|
|
NC_000017.10:g.(?_59937175)_(59940147_?)del
|
|
|
|
NC_000017.10:g.(?_8136214)_(8285628_?)del
|
|
|
|
NC_000017.11:g.(?_58692625)_(58710000_?)del
|
|
|
|
NC_000017.11:g.(?_58692625)_(58734222_?)del
|
|
|
|
NC_000017.11:g.(?_58692634)_(58692798_?)del
|
|
|
|
NC_000017.11:g.(?_58692634)_(58703339_?)del
|
|
|
|
NC_000017.11:g.(?_58692634)_(58710000_?)del
|
|
|
|
NC_000017.11:g.(?_58692634)_(58734232_?)del
|
|
|
|
NC_000017.11:g.(?_58692638)_(58734228_?)del
|
|
|
|
NC_000017.11:g.(?_58696687)_(58696865_?)del
|
|
|
|
NC_000017.11:g.(?_58703186)_(58703339_?)del
|
|
|
|
NC_000017.11:g.(?_58703186)_(58734222_?)del
|
|
|
|
NC_000017.11:g.(?_58703186)_(58734232_?)del
|
|
|
|
NC_000017.11:g.(?_58703196)_(58709990_?)del
|
|
|
|
NC_000017.11:g.(?_58709849)_(58734222_?)del
|
|
|
|
NC_000017.11:g.(?_58709849)_(58734232_?)del
|
|
|
|
NC_000017.11:g.(?_58720736)_(58734222_?)del
|
|
|
|
NC_000017.11:g.(?_58720736)_(58734232_?)del
|
|
|
|
NC_000017.11:g.(?_58720736)_(58734352_?)del
|
|
|
|
NC_000017.11:g.(?_58720740)_(58720818_?)del
|
|
|
|
NC_000017.11:g.(?_58720740)_(58724106_?)del
|
|
|
|
NC_000017.11:g.(?_58720746)_(58734342_?)del
|
|
|
|
NC_000017.11:g.(?_58732474)_(58734222_?)del
|
|
|
|
NC_000017.11:g.(?_58732474)_(58734232_?)del
|
|
|
|
NC_000017.11:g.(?_61683286)_(61693522_?)del
|
|
|
|
NC_000017.11:g.(?_61683286)_(61716073_?)del
|
|
|
|
NC_000017.11:g.(?_61683290)_(61684146_?)del
|
|
|
|
NC_000017.11:g.(?_61683296)_(61716073_?)del
|
|
|
|
NC_000017.11:g.(?_61715941)_(61716073_?)del
|
|
|
|
NC_000017.11:g.(?_61715941)_(61808767_?)del
|
|
|
|
NC_000017.11:g.(?_61743007)_(61808763_?)del
|
|
|
|
NC_000017.11:g.(?_61744422)_(61744601_?)del
|
|
|
|
NC_000017.11:g.(?_61776391)_(61784434_?)del
|
|
|
|
NC_000017.11:g.(?_61776391)_(61808767_?)del
|
|
|
|
NC_000017.11:g.(?_61776395)_(61801480_?)del
|
|
|
|
NC_000017.11:g.(?_61776395)_(61861545_?)del
|
|
|
|
NC_000017.11:g.(?_61780255)_(61781011_?)del
|
|
|
|
NC_000017.11:g.(?_61799090)_(61801484_?)del
|
|
|
|
NC_000017.11:g.(?_61808457)_(61808767_?)del
|
|
|
|
NC_000017.11:g.(?_61847091)_(61849266_?)del
|
|
|
|
NC_000017.11:g.(?_61847091)_(61861549_?)del
|
|
|
|
NC_000017.11:g.(?_61847101)_(61849256_?)del
|
|
|
|
NC_000017.11:g.(?_61857048)_(61861539_?)del
|
|
|
|
NC_000017.11:g.(?_61857048)_(61861549_?)del
|
|
|
|
NC_000017.11:g.(?_61857052)_(61861545_?)del
|
|
|
|
NC_000017.11:g.(?_61859786)_(61861549_?)del
|
|
|
|
NC_000017.11:g.(?_7669603)_(8382316_?)del
|
|
|
|
NC_000018.10:g.(?_2920273)_(2960860_?)del
|
|
|
|
NC_000018.10:g.(?_2926703)_(2929178_?)del
|
|
|
|
NC_000018.10:g.(?_2931236)_(2951376_?)del
|
|
|
|
NC_000018.9:g.(?_2656075)_(2960838_?)del
|
|
|
|
NC_000019.10:g.41878996_41879009del
|
|
|
|
NC_000019.9:g.(?_42363988)_(42364925_?)del
|
|
|
|
NC_000019.9:g.(?_42363988)_(42375445_?)del
|
|
|
|
NC_000019.9:g.(?_42373081)_(42373843_?)del
|
|
|
|
NC_000019.9:g.(?_42373091)_(42375455_?)del
|
|
|
|
NC_000020.10:g.(?_17603729)_(18541384_?)del
|
|
|
|
NC_000020.10:g.(?_18491480)_(18496400_?)del
|
|
|
|
NC_000020.10:g.(?_18491480)_(18505684_?)del
|
|
|
|
NC_000020.10:g.(?_18491480)_(18535837_?)del
|
|
|
|
NC_000020.10:g.(?_18522920)_(18523066_?)del
|
|
|
|
NC_000020.11:g.(?_18512225)_(18515736_?)del
|
|
|
|
NC_000020.11:g.18512225_18512228del
|
|
|
|
NC_000021.8:g.(?_36079578)_(37133458_?)del
|
|
|
|
NC_000021.8:g.(?_36164426)_(36171765_?)del
|
|
|
|
NC_000021.8:g.(?_36164426)_(36421202_?)del
|
|
|
|
NC_000021.8:g.(?_36164432)_(37834775_?)del
|
|
|
|
NC_000021.8:g.(?_36182049)_(36231885_?)del
|
|
|
|
NC_000021.8:g.(?_36231761)_(36231885_?)del
|
|
|
|
NC_000021.8:g.(?_36231761)_(36253020_?)del
|
|
|
|
NC_000021.8:g.(?_36252834)_(36421595_?)del
|
|
|
|
NC_000021.8:g.(?_36421133)_(36421202_?)del
|
|
|
|
NC_000021.8:g.(?_46308588)_(46310157_?)del
|
|
|
|
NC_000021.8:g.(?_46309171)_(46310157_?)del
|
|
|
|
NC_000021.8:g.(?_47565311)_(47575437_?)del
|
|
|
|
NC_000021.8:g.35742772-?_36421202+?del
|
|
|
|
NC_000021.9:g.(?_34787801)_(34799462_?)del
|
|
|
|
NC_000021.9:g.(?_34787801)_(35048958_?)del
|
|
|
|
NC_000021.9:g.(?_34792125)_(34892973_?)del
|
|
|
|
NC_000021.9:g.(?_34799291)_(35049298_?)del
|
|
|
|
NC_000021.9:g.(?_34880547)_(34880723_?)del
|
|
|
|
NC_000021.9:g.(?_35048832)_(35049298_?)del
|
|
|
|
NC_000021.9:g.(?_35048836)_(35048905_?)del
|
|
|
|
NC_000022.10:g.(?_31003319)_(31003402_?)del
|
|
|
|
NC_000022.10:g.(?_31003319)_(31022508_?)del
|
|
|
|
NC_000022.10:g.(?_31008840)_(31019090_?)del
|
|
|
|
NC_000022.10:g.(?_31010316)_(31013502_?)del
|
|
|
|
NC_000022.10:g.(?_31018935)_(31019090_?)del
|
|
|
|
NC_000022.11:g.(?_30612853)_(30615807_?)del
|
|
|
|
NC_000023.10:g.(?_135067662)_(136652229_?)del
|
|
|
|
NC_000023.10:g.(?_135730388)_(135737600_?)del
|
|
|
|
NC_000023.10:g.(?_135730408)_(135732576_?)del
|
|
|
|
NC_000023.10:g.(?_138612860)_(138613021_?)del
|
|
|
|
NC_000023.10:g.(?_138612860)_(139587225_?)del
|
|
|
|
NC_000023.10:g.(?_138633201)_(138633443_?)del
|
|
|
|
NC_000023.10:g.(?_14861689)_(14891184_?)del
|
|
|
|
NC_000023.10:g.(?_14875974)_(14891184_?)del
|
|
|
|
NC_000023.10:g.(?_152014869)_(154563736_?)del
|
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
|
NC_000023.10:g.(?_152954030)_(154005142_?)del
|
|
|
|
NC_000023.10:g.(?_153639844)_(153642537_?)del
|
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)del
|
|
|
|
NC_000023.10:g.(?_153647872)_(153650075_?)del
|
|
|
|
NC_000023.10:g.(?_37545215)_(37664441_?)del
|
|
|
|
NC_000023.10:g.(?_37545215)_(37670170_?)del
|
|
|
|
NC_000023.10:g.(?_37639262)_(37660621_?)del
|
|
|
|
NC_000023.10:g.(?_37658188)_(37670170_?)del
|
|
|
|
NC_000023.10:g.(?_46618120)_(48549553_?)del
|
|
|
|
NC_000023.10:g.(?_48542233)_(48542384_?)del
|
|
|
|
NC_000023.10:g.(?_48542243)_(48652571_?)del
|
|
|
|
NC_000023.11:g.(?_136648058)_(136654450_?)del
|
|
|
|
NC_000023.11:g.(?_136648058)_(136659435_?)del
|
|
|
|
NC_000023.11:g.(?_136654353)_(136654450_?)del
|
|
|
|
NC_000023.11:g.(?_139530701)_(139563439_?)del
|
|
|
|
NC_000023.11:g.(?_139530759)_(139562076_?)del
|
|
|
|
NC_000023.11:g.(?_139541049)_(139563439_?)del
|
|
|
|
NC_000023.11:g.(?_37780009)_(37782203_?)del
|
|
|
|
NC_000023.11:g.(?_37780009)_(37783620_?)del
|
|
|
|
NC_000023.11:g.(?_37780009)_(37810937_?)del
|
|
|
|
NC_000023.11:g.(?_37780009)_(38421102_?)del
|
|
|
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
|
NM_000057.4(BLM):c.1043dup (p.Met348fs)
|
rs1567038003
|
|
|
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)
|
|
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
|
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)
|
|
|
|
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer)
|
rs2151157115
|
|
|
NM_000057.4(BLM):c.1129del (p.Glu377fs)
|
rs1555419710
|
|
|
NM_000057.4(BLM):c.1154del (p.Thr385fs)
|
|
|
|
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter)
|
rs1596228957
|
|
|
NM_000057.4(BLM):c.1176dup (p.Leu393fs)
|
rs1358266880
|
|
|
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs)
|
rs758132052
|
|
|
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)
|
|
|
|
NM_000057.4(BLM):c.1204dup (p.Gln402fs)
|
|
|
|
NM_000057.4(BLM):c.1220+3A>G
|
rs1429490877
|
|
|
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
|
rs1350192744
|
|
|
NM_000057.4(BLM):c.1231_1232delinsTA (p.Leu411Ter)
|
|
|
|
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)
|
rs887921909
|
|
|
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer)
|
|
|
|
NM_000057.4(BLM):c.124_127del (p.Ser42fs)
|
|
|
|
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer)
|
rs1895946786
|
|
|
NM_000057.4(BLM):c.1255del (p.Ser419fs)
|
rs1895946786
|
|
|
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter)
|
rs749512704
|
|
|
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
|
|
|
|
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer)
|
rs1555419806
|
|
|
NM_000057.4(BLM):c.1316del (p.Met439fs)
|
rs1555419829
|
|
|
NM_000057.4(BLM):c.1341del (p.Asn448fs)
|
rs2151158046
|
|
|
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)
|
rs730881428
|
|
|
NM_000057.4(BLM):c.1361del (p.Asn454fs)
|
rs2151158091
|
|
|
NM_000057.4(BLM):c.1374del (p.Ser460fs)
|
|
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
|
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs)
|
rs2151158165
|
|
|
NM_000057.4(BLM):c.1427del (p.Lys476fs)
|
|
|
|
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)
|
rs1555419873
|
|
|
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
|
|
|
|
NM_000057.4(BLM):c.1440dup (p.Ala481fs)
|
rs1596229894
|
|
|
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
|
|
|
|
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter)
|
rs1477193473
|
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
|
NM_000057.4(BLM):c.1487del (p.Leu496fs)
|
rs2151158316
|
|
|
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter)
|
rs2151158321
|
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
|
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
|
|
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter)
|
rs1596230118
|
|
|
NM_000057.4(BLM):c.1549dup (p.Ser517fs)
|
rs1555419902
|
|
|
NM_000057.4(BLM):c.1565del (p.Gly522fs)
|
rs1895965271
|
|
|
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)
|
|
|
|
NM_000057.4(BLM):c.1622del (p.Asn541fs)
|
|
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
|
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter)
|
rs367543038
|
|
|
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)
|
rs1205301894
|
|
|
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer)
|
rs2151158659
|
|
|
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2151158629
|
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
|
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)
|
rs1057516361
|
|
|
NM_000057.4(BLM):c.1732A>T (p.Lys578Ter)
|
rs2151158869
|
|
|
NM_000057.4(BLM):c.1752del (p.Gln585fs)
|
rs1555419961
|
|
|
NM_000057.4(BLM):c.1763del (p.Lys588fs)
|
|
|
|
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)
|
rs1057516956
|
|
|
NM_000057.4(BLM):c.1765del (p.Glu589fs)
|
|
|
|
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter)
|
rs138943954
|
|
|
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs)
|
rs2151158979
|
|
|
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)
|
|
|
|
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs)
|
|
|
|
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs)
|
rs2151159067
|
|
|
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
|
|
|
|
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)
|
|
|
|
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs)
|
rs2151159180
|
|
|
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
|
|
|
|
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)
|
rs2151160492
|
|
|
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
|
|
|
|
NM_000057.4(BLM):c.1921del (p.His641fs)
|
|
|
|
NM_000057.4(BLM):c.1928del (p.Arg643fs)
|
rs2151160567
|
|
|
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer)
|
|
|
|
NM_000057.4(BLM):c.1977del (p.His660fs)
|
|
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
|
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs)
|
|
|
|
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)
|
|
|
|
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs)
|
|
|
|
NM_000057.4(BLM):c.2074+5G>A
|
rs587779880
|
|
|
NM_000057.4(BLM):c.2078del (p.Gly693fs)
|
rs1896091563
|
|
|
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer)
|
|
|
|
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter)
|
rs753973474
|
|
|
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter)
|
rs1896092339
|
|
|
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
|
|
|
|
NM_000057.4(BLM):c.2131_2132del (p.Val711fs)
|
rs2151162445
|
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
|
NM_000057.4(BLM):c.2160_2163dup (p.Asp722fs)
|
rs2151162486
|
|
|
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter)
|
rs2151162501
|
|
|
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs)
|
|
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
|
NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs)
|
rs2151163791
|
|
|
NM_000057.4(BLM):c.2206dup (p.Tyr736fs)
|
rs886051551
|
|
|
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)
|
|
|
|
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer)
|
rs1596235791
|
|
|
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
|
|
|
|
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter)
|
rs1896146578
|
|
|
NM_000057.4(BLM):c.2225del (p.Thr742fs)
|
|
|
|
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs)
|
|
|
|
NM_000057.4(BLM):c.2268del (p.Asp757fs)
|
rs747341586
|
|
|
NM_000057.4(BLM):c.227del (p.Pro76fs)
|
rs1299272913
|
|
|
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs)
|
rs2151163995
|
|
|
NM_000057.4(BLM):c.2284del (p.Leu762fs)
|
rs2151164000
|
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
|
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter)
|
rs2151164019
|
|
|
NM_000057.4(BLM):c.230dup (p.Pro78fs)
|
|
|
|
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs)
|
|
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
|
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
|
|
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs)
|
rs1567045130
|
|
|
NM_000057.4(BLM):c.2385del (p.Asp795fs)
|
rs2151165798
|
|
|
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter)
|
rs2151165848
|
|
|
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
|
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter)
|
rs1896235438
|
|
|
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)
|
rs1412341951
|
|
|
NM_000057.4(BLM):c.2411del (p.Gly804fs)
|
rs2151166065
|
|
|
NM_000057.4(BLM):c.2420_2424del (p.Phe807fs)
|
|
|
|
NM_000057.4(BLM):c.2448del (p.Met816fs)
|
rs1896237929
|
|
|
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs)
|
|
|
|
NM_000057.4(BLM):c.2456del (p.Gln819fs)
|
|
|
|
NM_000057.4(BLM):c.2493del (p.Thr832fs)
|
rs2151166250
|
|
|
NM_000057.4(BLM):c.2506del (p.Arg836fs)
|
rs1567045531
|
|
|
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs)
|
|
|
|
NM_000057.4(BLM):c.2539del (p.Ile847fs)
|
rs770751979
|
|
|
NM_000057.4(BLM):c.2559del (p.Phe853fs)
|
rs2151178019
|
|
|
NM_000057.4(BLM):c.2579del (p.His860fs)
|
rs2151178044
|
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
|
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter)
|
rs1896651394
|
|
|
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs)
|
|
|
|
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)
|
rs1060503989
|
|
|
NM_000057.4(BLM):c.2620del (p.Val874fs)
|
|
|
|
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)
|
rs367543039
|
|
|
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)
|
|
|
|
NM_000057.4(BLM):c.2721dup (p.Leu908fs)
|
|
|
|
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter)
|
rs1456964727
|
|
|
NM_000057.4(BLM):c.2781del (p.Asp928fs)
|
|
|
|
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)
|
|
|
|
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs)
|
|
|
|
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter)
|
rs2151179928
|
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
|
NM_000057.4(BLM):c.2818dup (p.Cys940fs)
|
rs2151179952
|
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
|
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs)
|
|
|
|
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)
|
rs762354041
|
|
|
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)
|
|
|
|
NM_000057.4(BLM):c.2900del (p.Pro967fs)
|
rs2151184555
|
|
|
NM_000057.4(BLM):c.2917del (p.Tyr973fs)
|
rs2151184585
|
|
|
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)
|
|
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
|
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)
|
|
|
|
NM_000057.4(BLM):c.2957del (p.Ile986fs)
|
|
|
|
NM_000057.4(BLM):c.2980del (p.Thr994fs)
|
rs1164844135
|
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
|
NM_000057.4(BLM):c.2991_2995del (p.Val998fs)
|
rs2151184718
|
|
|
NM_000057.4(BLM):c.299dup (p.Arg101fs)
|
|
|
|
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
|
|
|
|
NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs)
|
rs2151184759
|
|
|
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)
|
rs1555423119
|
|
|
NM_000057.4(BLM):c.301_304del (p.Arg101fs)
|
rs1489224386
|
|
|
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs)
|
|
|
|
NM_000057.4(BLM):c.3068del (p.Leu1023fs)
|
|
|
|
NM_000057.4(BLM):c.3069del (p.Leu1023fs)
|
|
|
|
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)
|
|
|
|
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter)
|
rs1896974524
|
|
|
NM_000057.4(BLM):c.3095dup (p.Asn1032fs)
|
|
|
|
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter)
|
|
|
|
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)
|
|
|
|
NM_000057.4(BLM):c.3125del (p.Leu1042fs)
|
rs1896976755
|
|
|
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter)
|
rs1188753950
|
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
|
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs)
|
|
|
|
NM_000057.4(BLM):c.320dup (p.Leu107fs)
|
rs781221411
|
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
|
NM_000057.4(BLM):c.3261del (p.Phe1087fs)
|
rs1319786857
|
|
|
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter)
|
rs367543017
|
|
|
NM_000057.4(BLM):c.3299del (p.Ile1100fs)
|
|
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
|
|
NM_000057.4(BLM):c.3367_3368del (p.Ser1123fs)
|
rs2151194158
|
|
|
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter)
|
rs1897212605
|
|
|
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
|
|
|
|
NM_000057.4(BLM):c.3467del (p.Asp1156fs)
|
|
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
|
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)
|
rs1596267627
|
|
|
NM_000057.4(BLM):c.3499del (p.Ala1167fs)
|
rs1555424305
|
|
|
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)
|
rs1555424311
|
|
|
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
|
|
|
|
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
|
|
|
|
NM_000057.4(BLM):c.3558+1G>A
|
rs148969222
|
|
|
NM_000057.4(BLM):c.3558+2T>C
|
rs1897222054
|
|
|
NM_000057.4(BLM):c.3564del (p.Phe1189fs)
|
rs1486692931
|
|
|
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)
|
rs1555424372
|
|
|
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs)
|
rs1567063125
|
|
|
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs)
|
|
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
|
NM_000057.4(BLM):c.3589del (p.Ser1197fs)
|
rs1555424376
|
|
|
NM_000057.4(BLM):c.358_359dup (p.Thr121fs)
|
|
|
|
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
|
|
|
|
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer)
|
|
|
|
NM_000057.4(BLM):c.3616del (p.Ala1206fs)
|
rs2151194859
|
|
|
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)
|
|
|
|
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter)
|
rs1897234496
|
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
|
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)
|
rs2151194897
|
|
|
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)
|
rs1897236255
|
|
|
NM_000057.4(BLM):c.3681dup (p.Ser1228fs)
|
rs367543020
|
|
|
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)
|
rs1234064430
|
|
|
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs)
|
rs1897238597
|
|
|
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
|
rs1275708646
|
|
|
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs)
|
rs2151198261
|
|
|
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter)
|
rs2151198266
|
|
|
NM_000057.4(BLM):c.375_376del (p.Pro126fs)
|
rs1895612617
|
|
|
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)
|
|
|
|
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)
|
|
|
|
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
|
|
|
|
NM_000057.4(BLM):c.3845del (p.Leu1282fs)
|
rs1897350204
|
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
|
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs)
|
rs2151198369
|
|
|
NM_000057.4(BLM):c.3860_3863del (p.Glu1287fs)
|
rs2151198382
|
|
|
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)
|
rs2151198389
|
|
|
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)
|
rs2151198391
|
|
|
NM_000057.4(BLM):c.3869del (p.Ser1290fs)
|
rs2151198402
|
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
|
NM_000057.4(BLM):c.390del (p.Lys130fs)
|
rs2151147261
|
|
|
NM_000057.4(BLM):c.3960dup (p.Val1321fs)
|
rs1567066891
|
|
|
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)
|
|
|
|
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter)
|
|
|
|
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter)
|
rs2151199939
|
|
|
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer)
|
rs1895617043
|
|
|
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
|
|
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
|
NM_000057.4(BLM):c.487del (p.Ser163fs)
|
|
|
|
NM_000057.4(BLM):c.497C>G (p.Ser166Ter)
|
rs896357448
|
|
|
NM_000057.4(BLM):c.511dup (p.Thr171fs)
|
|
|
|
NM_000057.4(BLM):c.522_523del (p.His176fs)
|
|
|
|
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)
|
|
|
|
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)
|
rs367543035
|
|
|
NM_000057.4(BLM):c.566del (p.Gly189fs)
|
rs2151147614
|
|
|
NM_000057.4(BLM):c.572_573del (p.Arg191fs)
|
rs2151147628
|
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
|
NM_000057.4(BLM):c.582_595del (p.Phe194fs)
|
|
|
|
NM_000057.4(BLM):c.583A>T (p.Lys195Ter)
|
rs2151147654
|
|
|
NM_000057.4(BLM):c.589C>T (p.Gln197Ter)
|
rs2151147666
|
|
|
NM_000057.4(BLM):c.604_607del (p.Asn202fs)
|
rs774777021
|
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
|
NM_000057.4(BLM):c.619del (p.Asp207fs)
|
rs1596218981
|
|
|
NM_000057.4(BLM):c.623del (p.Leu208fs)
|
rs2151147765
|
|
|
NM_000057.4(BLM):c.623dup (p.Leu208fs)
|
|
|
|
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer)
|
|
|
|
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
|
|
|
|
NM_000057.4(BLM):c.689G>A (p.Trp230Ter)
|
rs2151147939
|
|
|
NM_000057.4(BLM):c.700_710del (p.Asp234fs)
|
rs2151147969
|
|
|
NM_000057.4(BLM):c.700_713del (p.Asp234fs)
|
rs1567035745
|
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
|
NM_000057.4(BLM):c.729del (p.Ile243fs)
|
|
|
|
NM_000057.4(BLM):c.74T>G (p.Leu25Ter)
|
rs1895534883
|
|
|
NM_000057.4(BLM):c.757del (p.Gln253fs)
|
rs2151148137
|
|
|
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
|
|
|
|
NM_000057.4(BLM):c.760G>T (p.Glu254Ter)
|
rs181892828
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
|
NM_000057.4(BLM):c.77_87del (p.Ser26fs)
|
|
|
|
NM_000057.4(BLM):c.789dup (p.Asp264fs)
|
rs2151148207
|
|
|
NM_000057.4(BLM):c.811_815del (p.Lys271fs)
|
|
|
|
NM_000057.4(BLM):c.814A>T (p.Lys272Ter)
|
|
|
|
NM_000057.4(BLM):c.826del (p.Glu276fs)
|
rs2151149553
|
|
|
NM_000057.4(BLM):c.829G>T (p.Glu277Ter)
|
rs1596221020
|
|
|
NM_000057.4(BLM):c.835G>T (p.Glu279Ter)
|
rs1567036566
|
|
|
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer)
|
rs1567036579
|
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
|
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer)
|
rs2151145092
|
|
|
NM_000057.4(BLM):c.842del (p.His281fs)
|
rs1895692863
|
|
|
NM_000057.4(BLM):c.855del (p.Val286fs)
|
rs2151149598
|
|
|
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
|
|
|
|
NM_000057.4(BLM):c.919G>T (p.Glu307Ter)
|
rs766386787
|
|
|
NM_000057.4(BLM):c.97dup (p.Ser33fs)
|
|
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
|
NM_000057.4(BLM):c.982del (p.Ser328fs)
|
|
|
|
NM_000057.4(BLM):c.984del (p.Asp329fs)
|
rs2151152104
|
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
|
NM_000057.4(BLM):c.993del (p.Glu332fs)
|
rs2151152131
|
|
|
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)
|
rs104894774
|
|
|
NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)
|
|
|
|
NM_000074.3(CD40LG):c.133del (p.Tyr45fs)
|
rs2076095044
|
|
|
NM_000074.3(CD40LG):c.138del (p.His47fs)
|
|
|
|
NM_000074.3(CD40LG):c.156+1G>A
|
|
|
|
NM_000074.3(CD40LG):c.156+2T>C
|
rs2148550585
|
|
|
NM_000074.3(CD40LG):c.158_161del
|
|
|
|
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter)
|
rs2148550523
|
|
|
NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter)
|
|
|
|
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)
|
|
|
|
NM_000074.3(CD40LG):c.289-1G>A
|
rs2148552379
|
|
|
NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter)
|
|
|
|
NM_000074.3(CD40LG):c.304_314del (p.Lys102fs)
|
rs1569376925
|
|
|
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
|
rs193922135
|
|
|
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs)
|
rs1569376930
|
|
|
NM_000074.3(CD40LG):c.340del (p.Gln114fs)
|
|
|
|
NM_000074.3(CD40LG):c.346+1G>A
|
rs2148552407
|
|
|
NM_000074.3(CD40LG):c.346+1G>T
|
|
|
|
NM_000074.3(CD40LG):c.346+5G>A
|
rs2148552412
|
|
|
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu)
|
rs104894778
|
|
|
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)
|
rs1603321148
|
|
|
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter)
|
rs1215852570
|
|
|
NM_000074.3(CD40LG):c.386del (p.Glu129fs)
|
rs2076119100
|
|
|
NM_000074.3(CD40LG):c.401del (p.Thr134fs)
|
rs2076119189
|
|
|
NM_000074.3(CD40LG):c.409+1G>C
|
rs2148552941
|
|
|
NM_000074.3(CD40LG):c.409+2T>C
|
|
|
|
NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys)
|
|
|
|
NM_000074.3(CD40LG):c.431del (p.Gly144fs)
|
|
|
|
NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter)
|
|
|
|
NM_000074.3(CD40LG):c.43del (p.Thr15fs)
|
|
|
|
NM_000074.3(CD40LG):c.470del (p.Asn157fs)
|
rs2148553684
|
|
|
NM_000074.3(CD40LG):c.474del (p.Lys159fs)
|
rs2076126996
|
|
|
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter)
|
rs767889061
|
|
|
NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg)
|
|
|
|
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)
|
rs2076127075
|
|
|
NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter)
|
|
|
|
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter)
|
rs1603321772
|
|
|
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter)
|
rs2076127276
|
|
|
NM_000074.3(CD40LG):c.559del (p.Ala187fs)
|
rs1556143529
|
|
|
NM_000074.3(CD40LG):c.594dup (p.Gly199fs)
|
|
|
|
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter)
|
rs2148553738
|
|
|
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter)
|
rs1085307733
|
|
|
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter)
|
rs1603321834
|
|
|
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter)
|
rs2076127875
|
|
|
NM_000074.3(CD40LG):c.701del (p.Gly234fs)
|
|
|
|
NM_000074.3(CD40LG):c.756del (p.Phe253fs)
|
|
|
|
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met)
|
rs193922136
|
|
|
NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)
|
|
|
|
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
|
|
|
|
NM_000081.4(LYST):c.10083del (p.Phe3362fs)
|
|
|
|
NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter)
|
|
|
|
NM_000081.4(LYST):c.10206del (p.Thr3402_Met3403insTer)
|
|
|
|
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter)
|
rs754616030
|
|
|
NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter)
|
|
|
|
NM_000081.4(LYST):c.10568_10569del (p.Val3523fs)
|
|
|
|
NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter)
|
|
|
|
NM_000081.4(LYST):c.10654del (p.Gln3552fs)
|
|
|
|
NM_000081.4(LYST):c.106G>T (p.Glu36Ter)
|
|
|
|
NM_000081.4(LYST):c.1082_1083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCTAGAGCAGCTTT (p.Leu361delinsPhePhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuTer)
|
|
|
|
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
|
|
|
|
NM_000081.4(LYST):c.1189A>T (p.Arg397Ter)
|
|
|
|
NM_000081.4(LYST):c.1202T>G (p.Leu401Ter)
|
|
|
|
NM_000081.4(LYST):c.130C>T (p.Gln44Ter)
|
|
|
|
NM_000081.4(LYST):c.1361G>A (p.Trp454Ter)
|
|
|
|
NM_000081.4(LYST):c.1391del (p.Glu464fs)
|
|
|
|
NM_000081.4(LYST):c.1406T>A (p.Leu469Ter)
|
|
|
|
NM_000081.4(LYST):c.1467del (p.Glu489fs)
|
rs80338644
|
|
|
NM_000081.4(LYST):c.1492A>T (p.Arg498Ter)
|
|
|
|
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)
|
rs80338645
|
|
|
NM_000081.4(LYST):c.1592dup (p.Asn531fs)
|
|
|
|
NM_000081.4(LYST):c.1599dup (p.Glu534Ter)
|
|
|
|
NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)
|
|
|
|
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
|
|
|
|
NM_000081.4(LYST):c.1902dup (p.Ala635fs)
|
rs80338646
|
|
|
NM_000081.4(LYST):c.192+1G>A
|
|
|
|
NM_000081.4(LYST):c.192+2T>C
|
|
|
|
NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)
|
|
|
|
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
|
|
|
|
NM_000081.4(LYST):c.2158C>T (p.Gln720Ter)
|
|
|
|
NM_000081.4(LYST):c.236_237del (p.Leu79fs)
|
|
|
|
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
|
|
|
|
NM_000081.4(LYST):c.2413del (p.Glu805fs)
|
rs80338647
|
|
|
NM_000081.4(LYST):c.2437C>T (p.Arg813Ter)
|
|
|
|
NM_000081.4(LYST):c.244dup (p.Leu82fs)
|
|
|
|
NM_000081.4(LYST):c.2540del (p.Lys847fs)
|
|
|
|
NM_000081.4(LYST):c.2730_2734del (p.Ser910fs)
|
|
|
|
NM_000081.4(LYST):c.2832del (p.Ser945fs)
|
|
|
|
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
|
|
|
|
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)
|
rs80338651
|
|
|
NM_000081.4(LYST):c.3301_3302insCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTATTATCTTTGGCTATAA (p.Gln1101delinsProGlyPheLysGlnAsnPheSerThrTer)
|
|
|
|
NM_000081.4(LYST):c.3433del (p.His1145fs)
|
|
|
|
NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter)
|
|
|
|
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
|
|
|
|
NM_000081.4(LYST):c.3736_3737del (p.Glu1246fs)
|
|
|
|
NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter)
|
|
|
|
NM_000081.4(LYST):c.3817_3821dup (p.Glu1275fs)
|
|
|
|
NM_000081.4(LYST):c.3910del (p.Glu1304fs)
|
|
|
|
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
|
|
|
|
NM_000081.4(LYST):c.4264del (p.Ala1422fs)
|
|
|
|
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter)
|
rs1468055437
|
|
|
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
|
|
|
|
NM_000081.4(LYST):c.433C>T (p.Arg145Ter)
|
|
|
|
NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter)
|
|
|
|
NM_000081.4(LYST):c.4469del (p.Thr1490fs)
|
|
|
|
NM_000081.4(LYST):c.4479del (p.Gly1494fs)
|
|
|
|
NM_000081.4(LYST):c.4498_4502del (p.Arg1500fs)
|
|
|
|
NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter)
|
|
|
|
NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter)
|
|
|
|
NM_000081.4(LYST):c.5351_5352insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGAGCATCTT (p.Leu1784delinsPhePhePhePhePhePhePheXaaXaaXaaXaaSerTer)
|
|
|
|
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
|
|
|
|
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
|
|
|
|
NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter)
|
|
|
|
NM_000081.4(LYST):c.575del (p.Phe191_Leu192insTer)
|
|
|
|
NM_000081.4(LYST):c.575dup (p.Leu192fs)
|
|
|
|
NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter)
|
|
|
|
NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter)
|
|
|
|
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
|
|
|
|
NM_000081.4(LYST):c.6077dup (p.Tyr2026Ter)
|
|
|
|
NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter)
|
|
|
|
NM_000081.4(LYST):c.6187del (p.Arg2063fs)
|
|
|
|
NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter)
|
|
|
|
NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter)
|
|
|
|
NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter)
|
|
|
|
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
|
|
|
|
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
|
|
|
|
NM_000081.4(LYST):c.713_714insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCGCGGACGGGGAGCCGGGCCCGGAGCCGCCGTCACGGCCGCGACCGCCCCGCGGGGCCGGCCTGGGCCGCGCTCAAACACTGACATTTT (p.Ile237_Leu238insPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgGlyAlaGlyProGlyAlaAlaValThrAlaAlaThrAlaProArgGlyArgProGlyProArgSerAsnThrAspIle)
|
|
|
|
NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)
|
|
|
|
NM_000081.4(LYST):c.7499del (p.Ile2500fs)
|
|
|
|
NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter)
|
|
|
|
NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)
|
|
|
|
NM_000081.4(LYST):c.8122dup (p.Tyr2708fs)
|
|
|
|
NM_000081.4(LYST):c.8373_8376del (p.Leu2791fs)
|
|
|
|
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
|
|
|
|
NM_000081.4(LYST):c.8536-1G>A
|
|
|
|
NM_000081.4(LYST):c.8668_8669dup (p.Thr2891fs)
|
|
|
|
NM_000081.4(LYST):c.8691_8692del (p.Gln2898fs)
|
|
|
|
NM_000081.4(LYST):c.8760del (p.Ser2920fs)
|
|
|
|
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
|
|
|
|
NM_000081.4(LYST):c.9143del (p.Ser3048fs)
|
|
|
|
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
|
|
|
|
NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
|
|
|
|
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
|
|
|
|
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
|
|
|
|
NM_000081.4(LYST):c.934del (p.Ser312fs)
|
|
|
|
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
|
|
|
|
NM_000081.4(LYST):c.9434_9435dup (p.Leu3146fs)
|
|
|
|
NM_000081.4(LYST):c.9449del (p.Asn3150fs)
|
|
|
|
NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter)
|
|
|
|
NM_000081.4(LYST):c.9600del (p.Glu3201fs)
|
|
|
|
NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter)
|
|
|
|
NM_000081.4(LYST):c.973dup (p.Arg325fs)
|
|
|
|
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
|
|
|
|
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
|
|
|
|
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
|
|
|
|
NM_000081.4(LYST):c.9893del (p.Phe3298fs)
|
rs80338668
|
|
|
NM_000081.4(LYST):c.9961dup (p.Val3321fs)
|
|
|
|
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
|
|
|
|
NM_000096.4(CP):c.1106del (p.Lys369fs)
|
|
|
|
NM_000096.4(CP):c.1149G>A (p.Trp383Ter)
|
rs772867888
|
|
|
NM_000096.4(CP):c.1306C>T (p.Arg436Ter)
|
|
|
|
NM_000096.4(CP):c.1317_1318del (p.Gly440fs)
|
rs1727369694
|
|
|
NM_000096.4(CP):c.1505_1506dup (p.Pro503fs)
|
rs1553761391
|
|
|
NM_000096.4(CP):c.1613del (p.Met538fs)
|
rs1576759850
|
|
|
NM_000096.4(CP):c.1731del (p.Glu577fs)
|
rs2108244261
|
|
|
NM_000096.4(CP):c.1843C>T (p.Gln615Ter)
|
|
|
|
NM_000096.4(CP):c.1991_1992del (p.Thr664fs)
|
|
|
|
NM_000096.4(CP):c.2066del (p.Pro689fs)
|
rs386134147
|
|
|
NM_000096.4(CP):c.2149C>T (p.Gln717Ter)
|
|
|
|
NM_000096.4(CP):c.2253G>A (p.Trp751Ter)
|
rs1559940237
|
|
|
NM_000096.4(CP):c.2322C>A (p.Tyr774Ter)
|
rs2108230432
|
|
|
NM_000096.4(CP):c.2520_2523del (p.Thr841fs)
|
|
|
|
NM_000096.4(CP):c.2702dup (p.Arg902fs)
|
rs1559935542
|
|
|
NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)
|
|
|
|
NM_000096.4(CP):c.3019-1G>A
|
rs386134142
|
|
|
NM_000096.4(CP):c.376_379del (p.Tyr126fs)
|
rs2108301637
|
|
|
NM_000096.4(CP):c.607+1del
|
rs753254095
|
|
|
NM_000101.4(CYBA):c.103C>T (p.Gln35Ter)
|
|
|
|
NM_000101.4(CYBA):c.107G>A (p.Trp36Ter)
|
|
|
|
NM_000101.4(CYBA):c.108G>A (p.Trp36Ter)
|
|
|
|
NM_000101.4(CYBA):c.109dup (p.Tyr37fs)
|
|
|
|
NM_000101.4(CYBA):c.111C>G (p.Tyr37Ter)
|
rs2142877263
|
|
|
NM_000101.4(CYBA):c.166del (p.Arg56fs)
|
rs1352931329
|
|
|
NM_000101.4(CYBA):c.166dup (p.Arg56fs)
|
rs1352931329
|
|
|
NM_000101.4(CYBA):c.17G>A (p.Trp6Ter)
|
rs2142883490
|
|
|
NM_000101.4(CYBA):c.18G>A (p.Trp6Ter)
|
|
|
|
NM_000101.4(CYBA):c.196G>T (p.Glu66Ter)
|
|
|
|
NM_000101.4(CYBA):c.204-2A>G
|
rs113932941
|
|
|
NM_000101.4(CYBA):c.21del (p.Met8fs)
|
rs1597374562
|
|
|
NM_000101.4(CYBA):c.246_273del (p.Phe83fs)
|
|
|
|
NM_000101.4(CYBA):c.246del (p.Phe83fs)
|
rs1439134665
|
|
|
NM_000101.4(CYBA):c.261C>A (p.Tyr87Ter)
|
rs779809359
|
|
|
NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter)
|
rs779809359
|
|
|
NM_000101.4(CYBA):c.267del (p.Arg90fs)
|
|
|
|
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln)
|
rs104894513
|
|
|
NM_000101.4(CYBA):c.26G>A (p.Trp9Ter)
|
rs535897564
|
|
|
NM_000101.4(CYBA):c.287+1G>T
|
|
|
|
NM_000101.4(CYBA):c.295_301del (p.Val99fs)
|
|
|
|
NM_000101.4(CYBA):c.295del (p.Val99fs)
|
rs1907272370
|
|
|
NM_000101.4(CYBA):c.467del (p.Pro156fs)
|
|
|
|
NM_000101.4(CYBA):c.472_484del (p.Pro160fs)
|
rs1272232395
|
|
|
NM_000101.4(CYBA):c.58+4_58+7del
|
rs771926427
|
|
|
NM_000101.4(CYBA):c.59-2A>T
|
rs1907355667
|
|
|
NM_000101.4(CYBA):c.68_76del (p.Thr23_Gly25del)
|
|
|
|
NM_000101.4(CYBA):c.77del (p.Ile26fs)
|
rs1326361967
|
|
|
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)
|
rs104894511
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
|
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
|
rs2148186224
|
|
|
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
|
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
|
|
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
|
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
|
NM_000130.5(F5):c.1258G>T (p.Gly420Cys)
|
|
|
|
NM_000130.5(F5):c.155C>G (p.Ser52Ter)
|
|
|
|
NM_000130.5(F5):c.2021del (p.Lys674fs)
|
|
|
|
NM_000130.5(F5):c.2218C>T (p.Arg740Ter)
|
rs757953549
|
|
|
NM_000130.5(F5):c.2228C>A (p.Ser743Ter)
|
|
|
|
NM_000130.5(F5):c.2521del (p.Gln841fs)
|
|
|
|
NM_000130.5(F5):c.2539del (p.Ile847fs)
|
rs1571575520
|
|
|
NM_000130.5(F5):c.2743_2744del (p.Thr915fs)
|
|
|
|
NM_000130.5(F5):c.2780del (p.Pro927fs)
|
|
|
|
NM_000130.5(F5):c.286G>C (p.Asp96His)
|
|
|
|
NM_000130.5(F5):c.2946G>A (p.Trp982Ter)
|
|
|
|
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
|
|
|
|
NM_000130.5(F5):c.3322del (p.Thr1108fs)
|
|
|
|
NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)
|
|
|
|
NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)
|
|
|
|
NM_000130.5(F5):c.3799del (p.Leu1267fs)
|
|
|
|
NM_000130.5(F5):c.4083dup (p.Ser1362fs)
|
|
|
|
NM_000130.5(F5):c.4317_4318del (p.Pro1440fs)
|
|
|
|
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
|
|
|
|
NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)
|
|
|
|
NM_000130.5(F5):c.4705_4706delinsTA (p.Ala1569Ter)
|
|
|
|
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
|
|
|
|
NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)
|
|
|
|
NM_000130.5(F5):c.5037dup (p.Ser1680fs)
|
rs754982088
|
|
|
NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)
|
|
|
|
NM_000130.5(F5):c.5261del (p.Gly1754fs)
|
|
|
|
NM_000130.5(F5):c.5403dup (p.Ser1802fs)
|
rs757917115
|
|
|
NM_000130.5(F5):c.5453del (p.Leu1818fs)
|
|
|
|
NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)
|
|
|
|
NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)
|
|
|
|
NM_000130.5(F5):c.597_598del (p.Glu200fs)
|
|
|
|
NM_000130.5(F5):c.653T>C (p.Phe218Ser)
|
|
|
|
NM_000130.5(F5):c.987C>A (p.Cys329Ter)
|
|
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
|
NM_000133.4(F9):c.1025C>T (p.Thr342Met)
|
rs137852254
|
|
|
NM_000133.4(F9):c.1058T>C (p.Val353Ala)
|
rs137852255
|
|
|
NM_000133.4(F9):c.1062T>A (p.Ser354Arg)
|
rs2148367882
|
|
|
NM_000133.4(F9):c.1067G>A (p.Trp356Ter)
|
|
|
|
NM_000133.4(F9):c.1094C>G (p.Ser365Ter)
|
|
|
|
NM_000133.4(F9):c.1108C>T (p.Gln370Ter)
|
|
|
|
NM_000133.4(F9):c.1135C>T (p.Arg379Ter)
|
rs137852258
|
|
|
NM_000133.4(F9):c.1136G>A (p.Arg379Gln)
|
rs137852259
|
|
|
NM_000133.4(F9):c.1144T>C (p.Cys382Arg)
|
rs137852260
|
|
|
NM_000133.4(F9):c.1148T>A (p.Leu383His)
|
|
|
|
NM_000133.4(F9):c.1161del (p.Lys387fs)
|
|
|
|
NM_000133.4(F9):c.1182G>A (p.Met394Ile)
|
|
|
|
NM_000133.4(F9):c.1183T>A (p.Phe395Ile)
|
rs1175050951
|
|
|
NM_000133.4(F9):c.1187G>A (p.Cys396Tyr)
|
|
|
|
NM_000133.4(F9):c.1190C>T (p.Ala397Val)
|
|
|
|
NM_000133.4(F9):c.1231A>G (p.Ser411Gly)
|
rs137852277
|
|
|
NM_000133.4(F9):c.127C>T (p.Arg43Trp)
|
rs1603264205
|
|
|
NM_000133.4(F9):c.128G>A (p.Arg43Gln)
|
rs1275708479
|
|
|
NM_000133.4(F9):c.1293G>T (p.Trp431Cys)
|
|
|
|
NM_000133.4(F9):c.1294G>A (p.Gly432Ser)
|
|
|
|
NM_000133.4(F9):c.1328T>C (p.Ile443Thr)
|
rs137852268
|
|
|
NM_000133.4(F9):c.1358G>A (p.Trp453Ter)
|
rs2148368332
|
|
|
NM_000133.4(F9):c.142A>G (p.Asn48Asp)
|
|
|
|
NM_000133.4(F9):c.148G>A (p.Gly50Ser)
|
rs1556435940
|
|
|
NM_000133.4(F9):c.191G>A (p.Cys64Tyr)
|
rs1330779541
|
|
|
NM_000133.4(F9):c.223C>T (p.Arg75Ter)
|
rs137852227
|
|
|
NM_000133.4(F9):c.237_247del (p.Thr81fs)
|
rs2148356221
|
|
|
NM_000133.4(F9):c.253-1G>C
|
rs1434866164
|
|
|
NM_000133.4(F9):c.278-3A>G
|
rs398122990
|
|
|
NM_000133.4(F9):c.344A>G (p.Tyr115Cys)
|
rs1603264727
|
|
|
NM_000133.4(F9):c.356G>A (p.Cys119Tyr)
|
|
|
|
NM_000133.4(F9):c.384T>A (p.Cys128Ter)
|
rs780435919
|
|
|
NM_000133.4(F9):c.412A>C (p.Asn138His)
|
|
|
|
NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs)
|
|
|
|
NM_000133.4(F9):c.478G>A (p.Gly160Arg)
|
|
|
|
NM_000133.4(F9):c.484C>T (p.Arg162Ter)
|
rs137852272
|
|
|
NM_000133.4(F9):c.499C>T (p.Gln167Ter)
|
rs2148361240
|
|
|
NM_000133.4(F9):c.520+13A>G
|
rs1603265507
|
|
|
NM_000133.4(F9):c.532T>C (p.Cys178Arg)
|
rs2148362390
|
|
|
NM_000133.4(F9):c.545_546del (p.Ser182fs)
|
rs1433656857
|
|
|
NM_000133.4(F9):c.659C>A (p.Ser220Ter)
|
|
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
|
NM_000133.4(F9):c.723G>A (p.Gln241=)
|
|
|
|
NM_000133.4(F9):c.742del (p.Val248fs)
|
|
|
|
NM_000133.4(F9):c.755G>A (p.Cys252Tyr)
|
|
|
|
NM_000133.4(F9):c.782G>A (p.Trp261Ter)
|
rs2148367245
|
|
|
NM_000133.4(F9):c.82T>C (p.Cys28Arg)
|
rs387906481
|
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
|
NM_000133.4(F9):c.838+1_838+16del
|
rs2148367304
|
|
|
NM_000133.4(F9):c.839-1G>A
|
rs1439169192
|
|
|
NM_000133.4(F9):c.839G>A (p.Gly280Asp)
|
rs1275842849
|
|
|
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
|
|
|
|
NM_000133.4(F9):c.88+2T>C
|
rs2148353009
|
|
|
NM_000133.4(F9):c.880C>T (p.Arg294Ter)
|
rs137852248
|
|
|
NM_000133.4(F9):c.881G>A (p.Arg294Gln)
|
rs137852249
|
|
|
NM_000133.4(F9):c.881G>T (p.Arg294Leu)
|
|
|
|
NM_000133.4(F9):c.88G>A (p.Val30Ile)
|
rs1603263395
|
|
|
NM_000133.4(F9):c.892C>T (p.Arg298Ter)
|
rs137852250
|
|
|
NM_000133.4(F9):c.944A>G (p.Asp315Gly)
|
|
|
|
NM_000133.4(F9):c.990C>A (p.Tyr330Ter)
|
rs1928109999
|
|
|
NM_000135.2(FANCA):c.(?_-1)_522+?del
|
|
|
|
NM_000135.4(FANCA):c.-1_2del (p.Met1del)
|
rs2143732272
|
|
|
NM_000135.4(FANCA):c.1007-1G>A
|
|
|
|
NM_000135.4(FANCA):c.102dup (p.Tyr35fs)
|
|
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
|
NM_000135.4(FANCA):c.1034_1040del (p.Glu345fs)
|
rs2143534611
|
|
|
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)
|
|
|
|
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter)
|
rs773687142
|
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
|
NM_000135.4(FANCA):c.1084-1G>A
|
rs2040094761
|
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
|
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)
|
|
|
|
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)
|
rs2040092520
|
|
|
NM_000135.4(FANCA):c.1147del (p.Glu383fs)
|
rs2040092247
|
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
|
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs)
|
rs2143529729
|
|
|
NM_000135.4(FANCA):c.118dup (p.Ala40fs)
|
rs2143724113
|
|
|
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
|
rs2040090995
|
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
|
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
|
rs2040090741
|
|
|
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)
|
|
|
|
NM_000135.4(FANCA):c.1226-1G>C
|
rs1417768931
|
|
|
NM_000135.4(FANCA):c.1259del (p.Glu420fs)
|
|
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
|
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter)
|
rs1158456786
|
|
|
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)
|
rs1158456786
|
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
|
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)
|
rs2040074214
|
|
|
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
|
rs2040073991
|
|
|
NM_000135.4(FANCA):c.1339del (p.Ser447fs)
|
rs2143525756
|
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
|
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs)
|
rs2143525701
|
|
|
NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter)
|
rs2143525603
|
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
|
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)
|
rs1438828232
|
|
|
NM_000135.4(FANCA):c.137C>G (p.Ser46Ter)
|
rs2041098068
|
|
|
NM_000135.4(FANCA):c.1417del (p.Leu473fs)
|
rs2039846326
|
|
|
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
|
rs1432415523
|
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
|
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
|
|
|
|
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
|
|
|
|
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)
|
|
|
|
NM_000135.4(FANCA):c.1590_1591del (p.Tyr531fs)
|
rs2143459144
|
|
|
NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter)
|
rs762342197
|
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
|
NM_000135.4(FANCA):c.1615dup (p.Asp539fs)
|
|
|
|
NM_000135.4(FANCA):c.1630dup (p.His544fs)
|
rs1598129626
|
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
|
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)
|
rs2041096125
|
|
|
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)
|
|
|
|
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
|
|
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
|
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)
|
rs759899153
|
|
|
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs)
|
rs2143422286
|
|
|
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter)
|
rs2039604081
|
|
|
NM_000135.4(FANCA):c.1824dup (p.Arg609fs)
|
rs1598127082
|
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
|
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter)
|
rs747994845
|
|
|
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)
|
|
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
|
NM_000135.4(FANCA):c.190-2A>G
|
|
|
|
NM_000135.4(FANCA):c.1900+1del
|
|
|
|
NM_000135.4(FANCA):c.1948dup (p.Leu650fs)
|
|
|
|
NM_000135.4(FANCA):c.1953del (p.Gln652fs)
|
|
|
|
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter)
|
rs1060501878
|
|
|
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)
|
rs772751654
|
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
|
NM_000135.4(FANCA):c.1del (p.Met1fs)
|
|
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
|
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)
|
rs2039386741
|
|
|
NM_000135.4(FANCA):c.200del (p.Pro67fs)
|
|
|
|
NM_000135.4(FANCA):c.2014+1del
|
rs2143366415
|
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
|
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs)
|
rs2143351554
|
|
|
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
|
|
|
|
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs)
|
rs2143351188
|
|
|
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
|
rs941660593
|
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
|
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)
|
rs781436006
|
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
|
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
|
|
|
|
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs)
|
rs1394491958
|
|
|
NM_000135.4(FANCA):c.221_222del (p.Leu74fs)
|
rs2041026878
|
|
|
NM_000135.4(FANCA):c.2242del (p.Leu748fs)
|
rs2143336491
|
|
|
NM_000135.4(FANCA):c.2244del (p.Phe749fs)
|
rs2143336461
|
|
|
NM_000135.4(FANCA):c.2253dup (p.Thr752fs)
|
rs2143336354
|
|
|
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs)
|
|
|
|
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)
|
rs751572448
|
|
|
NM_000135.4(FANCA):c.2293del (p.Leu765fs)
|
|
|
|
NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter)
|
rs947786901
|
|
|
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
|
rs761725308
|
|
|
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)
|
rs2041026343
|
|
|
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
|
rs1336033143
|
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
|
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
|
|
|
|
NM_000135.4(FANCA):c.2482dup (p.Asp828fs)
|
rs2143331597
|
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
|
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)
|
rs763378933
|
|
|
NM_000135.4(FANCA):c.2546del (p.Ser849fs)
|
rs1060501876
|
|
|
NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter)
|
rs1406289451
|
|
|
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
|
rs761469030
|
|
|
NM_000135.4(FANCA):c.2563dup (p.Thr855fs)
|
|
|
|
NM_000135.4(FANCA):c.2564del (p.Thr855fs)
|
rs2143308216
|
|
|
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs)
|
rs1567616135
|
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
|
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
|
rs2039156731
|
|
|
NM_000135.4(FANCA):c.2602-1G>A
|
rs747823528
|
|
|
NM_000135.4(FANCA):c.2602-1G>T
|
rs747823528
|
|
|
NM_000135.4(FANCA):c.2602-2A>C
|
rs1555545592
|
|
|
NM_000135.4(FANCA):c.2602-2A>T
|
rs1555545592
|
|
|
NM_000135.4(FANCA):c.2604_2609del
|
|
|
|
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly)
|
rs762804216
|
|
|
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)
|
rs2039078843
|
|
|
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter)
|
rs1487360770
|
|
|
NM_000135.4(FANCA):c.2667del (p.Ser890fs)
|
rs1555545517
|
|
|
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter)
|
rs2039077331
|
|
|
NM_000135.4(FANCA):c.2707dup (p.Trp903fs)
|
rs1225564406
|
|
|
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)
|
rs1354272260
|
|
|
NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)
|
|
|
|
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)
|
rs2039076227
|
|
|
NM_000135.4(FANCA):c.2717del (p.Ala906fs)
|
rs2143288542
|
|
|
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)
|
rs878853663
|
|
|
NM_000135.4(FANCA):c.2739_2740del (p.His913fs)
|
rs1186669727
|
|
|
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)
|
rs1060501880
|
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
|
NM_000135.4(FANCA):c.2778+1G>C
|
rs140180549
|
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
|
NM_000135.4(FANCA):c.279del (p.Phe93fs)
|
|
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
|
NM_000135.4(FANCA):c.283+2T>C
|
|
|
|
NM_000135.4(FANCA):c.283+2T>G
|
|
|
|
NM_000135.4(FANCA):c.283+3A>C
|
rs786204204
|
|
|
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs)
|
|
|
|
NM_000135.4(FANCA):c.2832dup (p.Ala945fs)
|
rs2143260759
|
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
|
NM_000135.4(FANCA):c.284-1328_705del
|
|
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
|
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)
|
rs927630499
|
|
|
NM_000135.4(FANCA):c.2885_2888dup (p.Phe963fs)
|
|
|
|
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs)
|
|
|
|
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter)
|
rs1192724266
|
|
|
NM_000135.4(FANCA):c.291_295del (p.Leu98fs)
|
|
|
|
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs)
|
|
|
|
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
|
|
|
|
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
|
rs1598191053
|
|
|
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
|
|
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
|
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)
|
|
|
|
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
|
|
|
|
NM_000135.4(FANCA):c.2T>G (p.Met1Arg)
|
rs769479800
|
|
|
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs)
|
rs2143163813
|
|
|
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
|
|
|
|
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)
|
rs2143163267
|
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
|
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter)
|
rs1555538740
|
|
|
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter)
|
rs1270910813
|
|
|
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs)
|
rs2143139284
|
|
|
NM_000135.4(FANCA):c.3116del (p.Gly1039fs)
|
|
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
|
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs)
|
rs2143139061
|
|
|
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs)
|
rs2143138748
|
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
|
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
|
|
NM_000135.4(FANCA):c.3164_3179del (p.Arg1055fs)
|
|
|
|
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter)
|
rs373545111
|
|
|
NM_000135.4(FANCA):c.3169del (p.Gln1057fs)
|
rs2143138814
|
|
|
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs)
|
|
|
|
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs)
|
|
|
|
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)
|
rs1166286386
|
|
|
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)
|
rs776391208
|
|
|
NM_000135.4(FANCA):c.319del (p.Val107fs)
|
rs1411237340
|
|
|
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs)
|
rs2143138138
|
|
|
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)
|
rs764030196
|
|
|
NM_000135.4(FANCA):c.3239+1G>A
|
rs2143137762
|
|
|
NM_000135.4(FANCA):c.3239+1dup
|
rs766989857
|
|
|
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs)
|
rs2143128346
|
|
|
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)
|
|
|
|
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
|
rs1035003476
|
|
|
NM_000135.4(FANCA):c.3270_3271del (p.Cys1091fs)
|
rs2143128062
|
|
|
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)
|
rs1450151864
|
|
|
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)
|
|
|
|
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)
|
|
|
|
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)
|
|
|
|
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)
|
|
|
|
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter)
|
rs777825824
|
|
|
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer)
|
|
|
|
NM_000135.4(FANCA):c.3328del (p.His1110fs)
|
|
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
|
NM_000135.4(FANCA):c.3348+2T>G
|
|
|
|
NM_000135.4(FANCA):c.3349-1G>C
|
|
|
|
NM_000135.4(FANCA):c.3349-2A>G
|
rs2038409874
|
|
|
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
|
|
|
|
NM_000135.4(FANCA):c.3397del (p.His1133fs)
|
rs758917273
|
|
|
NM_000135.4(FANCA):c.3398del (p.His1133fs)
|
rs2038407878
|
|
|
NM_000135.4(FANCA):c.339_340del (p.Ala114fs)
|
|
|
|
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)
|
rs786204246
|
|
|
NM_000135.4(FANCA):c.3401dup (p.Phe1135fs)
|
|
|
|
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)
|
rs1555537347
|
|
|
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs)
|
rs2143106522
|
|
|
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs)
|
rs2143106211
|
|
|
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)
|
|
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
|
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)
|
rs1555536446
|
|
|
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
|
|
|
|
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
|
rs1598067532
|
|
|
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)
|
rs770393751
|
|
|
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)
|
rs1185165443
|
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
|
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)
|
rs2062210802
|
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
|
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
|
|
|
|
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
|
|
|
|
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)
|
rs1313006784
|
|
|
NM_000135.4(FANCA):c.3627-1G>C
|
rs2062172440
|
|
|
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
|
rs2062172394
|
|
|
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
|
rs1304878514
|
|
|
NM_000135.4(FANCA):c.3638dup (p.Pro1213_Glu1214insTer)
|
rs1567598488
|
|
|
NM_000135.4(FANCA):c.3639del (p.Glu1214fs)
|
rs2062172051
|
|
|
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter)
|
rs2143062233
|
|
|
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs)
|
|
|
|
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
|
|
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
|
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)
|
|
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
|
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)
|
|
|
|
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs)
|
rs2143060935
|
|
|
NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)
|
|
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
|
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)
|
rs2062169243
|
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
|
NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
|
|
|
|
NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
|
|
|
|
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
|
|
NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter)
|
rs752800577
|
|
|
NM_000135.4(FANCA):c.3818dup (p.Thr1274fs)
|
|
|
|
NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)
|
|
|
|
NM_000135.4(FANCA):c.3828+1G>A
|
rs1432988639
|
|
|
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)
|
rs2062089336
|
|
|
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
|
rs986710868
|
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
|
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs)
|
rs2151714692
|
|
|
NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
|
|
|
|
NM_000135.4(FANCA):c.3910del (p.Ala1304fs)
|
rs2151714666
|
|
|
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs)
|
rs748453841
|
|
|
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
|
rs1281446470
|
|
|
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
|
rs2151714613
|
|
|
NM_000135.4(FANCA):c.3920del (p.Gln1307fs)
|
rs1228394297
|
|
|
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs)
|
rs2151714603
|
|
|
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
|
|
|
|
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)
|
rs1403231932
|
|
|
NM_000135.4(FANCA):c.3934+2T>C
|
rs771775516
|
|
|
NM_000135.4(FANCA):c.3935-1G>A
|
rs1555533693
|
|
|
NM_000135.4(FANCA):c.3935-1G>T
|
rs1555533693
|
|
|
NM_000135.4(FANCA):c.3935-2A>T
|
rs1189106357
|
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
|
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
|
|
|
|
NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
|
|
|
|
NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
|
NM_000135.4(FANCA):c.4011-1G>C
|
rs761988162
|
|
|
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)
|
rs773113065
|
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
|
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
|
|
|
|
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)
|
rs1336834251
|
|
|
NM_000135.4(FANCA):c.4110dup (p.Gly1371fs)
|
|
|
|
NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
|
|
|
|
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs)
|
rs1567592815
|
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
|
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)
|
rs199599393
|
|
|
NM_000135.4(FANCA):c.4168-1G>A
|
|
|
|
NM_000135.4(FANCA):c.4168-2A>G
|
rs1220672299
|
|
|
NM_000135.4(FANCA):c.416_417del (p.Val139fs)
|
rs864622188
|
|
|
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs)
|
rs2062046121
|
|
|
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
|
rs2040853528
|
|
|
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter)
|
rs2151710810
|
|
|
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)
|
rs2062043035
|
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
|
NM_000135.4(FANCA):c.4250_4251del (p.His1417fs)
|
|
|
|
NM_000135.4(FANCA):c.4255del (p.Ala1419fs)
|
rs2151710687
|
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
|
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)
|
rs2062027006
|
|
|
NM_000135.4(FANCA):c.4279dup (p.Asp1427fs)
|
|
|
|
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)
|
rs539460201
|
|
|
NM_000135.4(FANCA):c.443del (p.Leu148fs)
|
|
|
|
NM_000135.4(FANCA):c.447dup (p.Glu150fs)
|
rs2040846500
|
|
|
NM_000135.4(FANCA):c.44_69del (p.Pro15fs)
|
rs2041137887
|
|
|
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter)
|
rs774448881
|
|
|
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)
|
|
|
|
NM_000135.4(FANCA):c.50del (p.Gly17fs)
|
rs748624754
|
|
|
NM_000135.4(FANCA):c.542dup (p.Val182fs)
|
|
|
|
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
|
rs1598184500
|
|
|
NM_000135.4(FANCA):c.555del (p.His186fs)
|
|
|
|
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
|
|
|
|
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter)
|
rs776471397
|
|
|
NM_000135.4(FANCA):c.597-2A>T
|
|
|
|
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter)
|
rs2143632171
|
|
|
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
|
|
|
|
NM_000135.4(FANCA):c.643_644del (p.Cys215fs)
|
rs1338138752
|
|
|
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)
|
|
|
|
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
|
rs2040599267
|
|
|
NM_000135.4(FANCA):c.709+1G>A
|
rs753211631
|
|
|
NM_000135.4(FANCA):c.709+1G>C
|
rs753211631
|
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
|
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)
|
rs1311396994
|
|
|
NM_000135.4(FANCA):c.710-5T>C
|
rs2040523640
|
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
|
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)
|
rs868620166
|
|
|
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)
|
|
|
|
NM_000135.4(FANCA):c.737del (p.Gly246fs)
|
rs2143615845
|
|
|
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter)
|
rs878853666
|
|
|
NM_000135.4(FANCA):c.770_771del (p.Val257fs)
|
|
|
|
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
|
rs1353992080
|
|
|
NM_000135.4(FANCA):c.792+1G>A
|
rs2143615250
|
|
|
NM_000135.4(FANCA):c.792+1G>C
|
|
|
|
NM_000135.4(FANCA):c.793-1G>C
|
rs1567642367
|
|
|
NM_000135.4(FANCA):c.800_801dup (p.Asp268fs)
|
rs2143585362
|
|
|
NM_000135.4(FANCA):c.806_807del (p.Val269fs)
|
|
|
|
NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)
|
|
|
|
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter)
|
|
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
|
NM_000135.4(FANCA):c.84_87del (p.Arg29fs)
|
|
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
|
NM_000135.4(FANCA):c.893+1G>T
|
rs2040352832
|
|
|
NM_000135.4(FANCA):c.897del (p.Phe299fs)
|
|
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
|
NM_000135.4(FANCA):c.916dup (p.Thr306fs)
|
|
|
|
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
|
rs2041101553
|
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
|
NM_000135.4(FANCA):c.972del (p.Thr325fs)
|
|
|
|
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
|
|
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
|
NM_000135.4(FANCA):c.985dup (p.Thr329fs)
|
|
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
|
NM_000136.2(FANCC):c.-78-?_250+?del
|
|
|
|
NM_000136.2(FANCC):c.997-?_1154+?del
|
|
|
|
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs)
|
rs1064795597
|
|
|
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)
|
|
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
|
NM_000136.3(FANCC):c.1073-1G>C
|
rs1554830249
|
|
|
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)
|
rs1057516919
|
|
|
NM_000136.3(FANCC):c.1106del (p.Lys369fs)
|
|
|
|
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)
|
rs1554829561
|
|
|
NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter)
|
rs2134551203
|
|
|
NM_000136.3(FANCC):c.1199del (p.Phe400fs)
|
rs2134550787
|
|
|
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
|
|
|
|
NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)
|
|
|
|
NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)
|
|
|
|
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
|
|
|
|
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
|
rs765551897
|
|
|
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)
|
rs765551897
|
|
|
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)
|
rs2134548133
|
|
|
NM_000136.3(FANCC):c.1285_1297del (p.Tyr429fs)
|
|
|
|
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)
|
rs766105286
|
|
|
NM_000136.3(FANCC):c.129_142del (p.Glu43fs)
|
|
|
|
NM_000136.3(FANCC):c.1312_1329+68dup
|
rs1554829415
|
|
|
NM_000136.3(FANCC):c.1321_1322del (p.Gln441fs)
|
rs2071928804
|
|
|
NM_000136.3(FANCC):c.1327_1328del (p.Met443fs)
|
rs2134546063
|
|
|
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)
|
rs1057516298
|
|
|
NM_000136.3(FANCC):c.1351_1352del (p.Gly451fs)
|
|
|
|
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)
|
rs2134456127
|
|
|
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)
|
rs730881710
|
|
|
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)
|
rs1564641485
|
|
|
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
|
rs1035139114
|
|
|
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter)
|
rs1831172189
|
|
|
NM_000136.3(FANCC):c.140_143dup (p.Met48fs)
|
rs1831171802
|
|
|
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs)
|
rs1588029220
|
|
|
NM_000136.3(FANCC):c.1440dup (p.Ala481fs)
|
rs2071512726
|
|
|
NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter)
|
rs762501862
|
|
|
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)
|
rs1057516488
|
|
|
NM_000136.3(FANCC):c.1533+1G>A
|
|
|
|
NM_000136.3(FANCC):c.1533+1G>T
|
rs753885687
|
|
|
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs)
|
rs1554827159
|
|
|
NM_000136.3(FANCC):c.1551_1552del (p.Glu517fs)
|
|
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
|
NM_000136.3(FANCC):c.1563dup (p.Ile522fs)
|
|
|
|
NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter)
|
|
|
|
NM_000136.3(FANCC):c.1630_1631insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTANNNNNNNNNNAAAAAAAAAAGAAAGCCCTAGATCAG (p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer)
|
rs2134382573
|
|
|
NM_000136.3(FANCC):c.165+1G>A
|
|
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
|
NM_000136.3(FANCC):c.1655_1658dup (p.Leu554fs)
|
|
|
|
NM_000136.3(FANCC):c.16_23del (p.Val6fs)
|
|
|
|
NM_000136.3(FANCC):c.201del (p.Ile67fs)
|
rs2136091157
|
|
|
NM_000136.3(FANCC):c.220del (p.Ala74fs)
|
rs1588350264
|
|
|
NM_000136.3(FANCC):c.226del (p.Trp76fs)
|
rs2136090871
|
|
|
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter)
|
rs1189888124
|
|
|
NM_000136.3(FANCC):c.228del (p.Cys75_Trp76insTer)
|
rs2136090829
|
|
|
NM_000136.3(FANCC):c.251-2A>C
|
rs1057517219
|
|
|
NM_000136.3(FANCC):c.251-2A>G
|
rs1057517219
|
|
|
NM_000136.3(FANCC):c.251-2A>T
|
|
|
|
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
|
|
|
|
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)
|
rs777918411
|
|
|
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
|
|
|
|
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)
|
rs2136049324
|
|
|
NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)
|
|
|
|
NM_000136.3(FANCC):c.293_296del (p.Ile98fs)
|
rs754779102
|
|
|
NM_000136.3(FANCC):c.294_297del (p.Asn99fs)
|
|
|
|
NM_000136.3(FANCC):c.29dup (p.Cys10fs)
|
rs878853671
|
|
|
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)
|
rs730881731
|
|
|
NM_000136.3(FANCC):c.319_340dup (p.Ile114delinsThrIleLysThrTer)
|
rs2136048818
|
|
|
NM_000136.3(FANCC):c.323C>G (p.Ser108Ter)
|
rs1830581816
|
|
|
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)
|
rs1064793405
|
|
|
NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)
|
|
|
|
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter)
|
rs1825725461
|
|
|
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)
|
rs587779904
|
|
|
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)
|
rs1588220728
|
|
|
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)
|
rs1564720637
|
|
|
NM_000136.3(FANCC):c.381del (p.Phe127fs)
|
rs2135588524
|
|
|
NM_000136.3(FANCC):c.389_390del (p.Glu130fs)
|
rs1564720605
|
|
|
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter)
|
rs1825714345
|
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
|
NM_000136.3(FANCC):c.460del (p.Val154fs)
|
rs1825653076
|
|
|
NM_000136.3(FANCC):c.485dup (p.Glu163fs)
|
rs1554842611
|
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
|
NM_000136.3(FANCC):c.49_56del (p.Gln17fs)
|
|
|
|
NM_000136.3(FANCC):c.507del (p.Phe169fs)
|
rs1588218493
|
|
|
NM_000136.3(FANCC):c.532G>T (p.Glu178Ter)
|
|
|
|
NM_000136.3(FANCC):c.574dup (p.Thr192fs)
|
rs2135428096
|
|
|
NM_000136.3(FANCC):c.595del (p.Leu199fs)
|
rs1057519366
|
|
|
NM_000136.3(FANCC):c.5dup (p.Gln3fs)
|
rs1268491295
|
|
|
NM_000136.3(FANCC):c.612del (p.Ile205fs)
|
|
|
|
NM_000136.3(FANCC):c.635del (p.Gln212fs)
|
rs2135427018
|
|
|
NM_000136.3(FANCC):c.640dup (p.Ile214fs)
|
rs1057517203
|
|
|
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
|
|
|
|
NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)
|
|
|
|
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)
|
rs374176091
|
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
|
NM_000136.3(FANCC):c.705del (p.Met236fs)
|
rs2135168243
|
|
|
NM_000136.3(FANCC):c.723C>A (p.Cys241Ter)
|
rs2135167716
|
|
|
NM_000136.3(FANCC):c.76dup (p.Ser26fs)
|
|
|
|
NM_000136.3(FANCC):c.797_798dup (p.Asn267fs)
|
|
|
|
NM_000136.3(FANCC):c.839C>A (p.Ser280Ter)
|
rs749230615
|
|
|
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter)
|
rs1564667865
|
|
|
NM_000136.3(FANCC):c.863del (p.Pro288fs)
|
rs2134968283
|
|
|
NM_000136.3(FANCC):c.883dup (p.Asp295fs)
|
rs1826007748
|
|
|
NM_000136.3(FANCC):c.935_936del (p.Ile312fs)
|
|
|
|
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)
|
rs776529713
|
|
|
NM_000136.3(FANCC):c.957_958delinsTT (p.Gln320Ter)
|
rs2134922671
|
|
|
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
|
rs1825775052
|
|
|
NM_000136.3(FANCC):c.992_995dup (p.Leu333fs)
|
|
|
|
NM_000136.3(FANCC):c.994C>T (p.Gln332Ter)
|
|
|
|
NM_000211.5(ITGB2):c.1057del (p.Val353fs)
|
rs2146511363
|
|
|
NM_000211.5(ITGB2):c.1168_1180del (p.Val390fs)
|
|
|
|
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter)
|
rs1568883795
|
|
|
NM_000211.5(ITGB2):c.1275del (p.Phe426fs)
|
|
|
|
NM_000211.5(ITGB2):c.1367dup (p.Ser457fs)
|
rs2146504324
|
|
|
NM_000211.5(ITGB2):c.1471C>T (p.Gln491Ter)
|
|
|
|
NM_000211.5(ITGB2):c.1491C>A (p.Cys497Ter)
|
rs774228764
|
|
|
NM_000211.5(ITGB2):c.1537_1538del (p.Val513fs)
|
rs1230903176
|
|
|
NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter)
|
rs748574145
|
|
|
NM_000211.5(ITGB2):c.1759del (p.Arg587fs)
|
rs2146498117
|
|
|
NM_000211.5(ITGB2):c.185del (p.Cys62fs)
|
|
|
|
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)
|
|
|
|
NM_000211.5(ITGB2):c.2036del (p.Gln679fs)
|
rs1227331406
|
|
|
NM_000211.5(ITGB2):c.2051_2055dup (p.Leu686fs)
|
rs2083735130
|
|
|
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)
|
rs1464015799
|
|
|
NM_000211.5(ITGB2):c.239del (p.Asp80fs)
|
|
|
|
NM_000211.5(ITGB2):c.295del (p.Ser99fs)
|
|
|
|
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter)
|
rs772471533
|
|
|
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr)
|
rs137852615
|
|
|
NM_000211.5(ITGB2):c.433_436del (p.Asn145fs)
|
|
|
|
NM_000211.5(ITGB2):c.59-10C>A
|
|
|
|
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr)
|
rs179363873
|
|
|
NM_000211.5(ITGB2):c.742-14C>A
|
rs183204825
|
|
|
NM_000211.5(ITGB2):c.753del (p.Trp252fs)
|
rs1349812924
|
|
|
NM_000211.5(ITGB2):c.786del (p.Thr263fs)
|
rs1601302490
|
|
|
NM_000211.5(ITGB2):c.851_854dup (p.Cys286fs)
|
|
|
|
NM_000211.5(ITGB2):c.949C>T (p.Gln317Ter)
|
|
|
|
NM_000211.5(ITGB2):c.954del (p.Ile319fs)
|
|
|
|
NM_000254.3(MTR):c.1200dup (p.Val401fs)
|
|
|
|
NM_000254.3(MTR):c.12_13del (p.Leu5fs)
|
|
|
|
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
|
|
|
|
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
|
|
|
|
NM_000254.3(MTR):c.1512del (p.Gln505fs)
|
|
|
|
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
|
|
|
|
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
|
|
|
|
NM_000254.3(MTR):c.1812_1812+1insATAC
|
|
|
|
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)
|
rs1572278166
|
|
|
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
|
|
|
|
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
|
|
|
|
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
|
|
|
|
NM_000254.3(MTR):c.2139del (p.Met713fs)
|
|
|
|
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
|
|
|
|
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
|
|
|
|
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
|
|
|
|
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer)
|
rs1572309822
|
|
|
NM_000254.3(MTR):c.2669_2670del (p.Val890fs)
|
rs794727395
|
|
|
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
|
|
|
|
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
|
|
|
|
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
|
|
|
|
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
|
|
|
|
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
|
|
|
|
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
|
|
|
|
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
|
|
|
|
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
|
|
|
|
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
|
|
|
|
NM_000254.3(MTR):c.3600del (p.Ile1201fs)
|
rs1346847201
|
|
|
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter)
|
rs121913581
|
|
|
NM_000254.3(MTR):c.381del (p.Ala128fs)
|
|
|
|
NM_000254.3(MTR):c.573dup (p.Leu192fs)
|
|
|
|
NM_000254.3(MTR):c.609+1088G>A
|
rs752526782
|
|
|
NM_000254.3(MTR):c.610-1_613dup
|
|
|
|
NM_000254.3(MTR):c.617del (p.Leu206fs)
|
|
|
|
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
|
|
|
|
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
|
NM_000254.3(MTR):c.899dup (p.Pro301fs)
|
|
|
|
NM_000254.3(MTR):c.920dup (p.His307fs)
|
|
|
|
NM_000289.6(PFKM):c.103dup (p.Arg35fs)
|
|
|
|
NM_000289.6(PFKM):c.1053del (p.Cys351fs)
|
|
|
|
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)
|
|
|
|
NM_000289.6(PFKM):c.1091del (p.Glu364fs)
|
|
|
|
NM_000289.6(PFKM):c.1159del (p.Leu387fs)
|
|
|
|
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)
|
rs1064795749
|
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
|
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
|
|
|
|
NM_000289.6(PFKM):c.1338del (p.Gln447fs)
|
rs2135995131
|
|
|
NM_000289.6(PFKM):c.1344_1345insAA (p.Glu449fs)
|
|
|
|
NM_000289.6(PFKM):c.1413-64A>G
|
rs1202417178
|
|
|
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)
|
|
|
|
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
|
|
|
|
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
|
rs866260025
|
|
|
NM_000289.6(PFKM):c.1656del (p.Cys553fs)
|
|
|
|
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)
|
rs2135856711
|
|
|
NM_000289.6(PFKM):c.1704del (p.Phe568fs)
|
rs2136019667
|
|
|
NM_000289.6(PFKM):c.1761del (p.Ala588fs)
|
rs2136020407
|
|
|
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
|
|
|
|
NM_000289.6(PFKM):c.1827del (p.Glu610fs)
|
|
|
|
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs)
|
|
|
|
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
|
rs1592818641
|
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
|
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs)
|
rs2136049056
|
|
|
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)
|
rs1233958453
|
|
|
NM_000289.6(PFKM):c.21dup (p.Ala8fs)
|
|
|
|
NM_000289.6(PFKM):c.237+1G>C
|
rs202143236
|
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
|
NM_000289.6(PFKM):c.290del (p.Gly97fs)
|
|
|
|
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs)
|
rs2135886253
|
|
|
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)
|
|
|
|
NM_000289.6(PFKM):c.646dup (p.Ala216fs)
|
rs2135915377
|
|
|
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)
|
rs866904446
|
|
|
NM_000289.6(PFKM):c.74del (p.Gly25fs)
|
rs2137862074
|
|
|
NM_000289.6(PFKM):c.780_783del (p.Ile260fs)
|
|
|
|
NM_000289.6(PFKM):c.874del (p.Arg292fs)
|
rs1369841345
|
|
|
NM_000312.4(PROC):c.1042C>T (p.Arg348Ter)
|
rs121918141
|
|
|
NM_000312.4(PROC):c.1212dup (p.Pro405fs)
|
rs1333329860
|
|
|
NM_000312.4(PROC):c.303C>A (p.Cys101Ter)
|
rs764808999
|
|
|
NM_000312.4(PROC):c.326_330dup (p.Cys111fs)
|
rs1688218776
|
|
|
NM_000312.4(PROC):c.400+1G>A
|
rs1189377845
|
|
|
NM_000312.4(PROC):c.400+5G>T
|
|
|
|
NM_000312.4(PROC):c.41G>A (p.Trp14Ter)
|
rs758576042
|
|
|
NM_000312.4(PROC):c.520C>T (p.Gln174Ter)
|
rs1434042239
|
|
|
NM_000312.4(PROC):c.552_553insTT (p.Arg185fs)
|
rs1558715857
|
|
|
NM_000312.4(PROC):c.560G>A (p.Trp187Ter)
|
|
|
|
NM_000312.4(PROC):c.561G>A (p.Trp187Ter)
|
rs1558715877
|
|
|
NM_000312.4(PROC):c.632G>A (p.Arg211Gln)
|
rs199469476
|
|
|
NM_000312.4(PROC):c.658C>T (p.Arg220Trp)
|
rs121918152
|
|
|
NM_000312.4(PROC):c.675G>A (p.Trp225Ter)
|
rs757925208
|
|
|
NM_000312.4(PROC):c.698dup (p.Lys234fs)
|
|
|
|
NM_000312.4(PROC):c.6G>A (p.Trp2Ter)
|
|
|
|
NM_000312.4(PROC):c.907_908del (p.Leu303fs)
|
|
|
|
NM_000312.4(PROC):c.982C>T (p.Arg328Cys)
|
rs201907715
|
|
|
NM_000313.4(PROS1):c.1084C>T (p.Gln362Ter)
|
rs1559931820
|
|
|
NM_000313.4(PROS1):c.1149G>A (p.Trp383Ter)
|
rs1708453639
|
|
|
NM_000313.4(PROS1):c.1155+5G>A
|
rs199469494
|
|
|
NM_000313.4(PROS1):c.1179_1180dup (p.Ser394fs)
|
|
|
|
NM_000313.4(PROS1):c.1185_1188dup (p.Ile397Ter)
|
|
|
|
NM_000313.4(PROS1):c.1253dup (p.Asn418fs)
|
|
|
|
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter)
|
rs5017717
|
|
|
NM_000313.4(PROS1):c.1424G>T (p.Cys475Phe)
|
|
|
|
NM_000313.4(PROS1):c.1465G>T (p.Gly489Ter)
|
|
|
|
NM_000313.4(PROS1):c.1518G>A (p.Trp506Ter)
|
|
|
|
NM_000313.4(PROS1):c.1726G>T (p.Glu576Ter)
|
|
|
|
NM_000313.4(PROS1):c.181G>T (p.Glu61Ter)
|
rs2107202868
|
|
|
NM_000313.4(PROS1):c.1871-1G>A
|
rs2107120223
|
|
|
NM_000313.4(PROS1):c.1871-2A>G
|
rs2107120227
|
|
|
NM_000313.4(PROS1):c.1919T>C (p.Met640Thr)
|
rs1708152510
|
|
|
NM_000313.4(PROS1):c.194AAG[2] (p.Glu67del)
|
rs1709033502
|
|
|
NM_000313.4(PROS1):c.1977del (p.Asn659fs)
|
|
|
|
NM_000313.4(PROS1):c.1991dup (p.His664fs)
|
rs1553808038
|
|
|
NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter)
|
rs1559926604
|
|
|
NM_000313.4(PROS1):c.1A>C (p.Met1Leu)
|
rs2107279275
|
|
|
NM_000313.4(PROS1):c.1A>G (p.Met1Val)
|
|
|
|
NM_000313.4(PROS1):c.252del (p.Lys84fs)
|
rs1241365457
|
|
|
NM_000313.4(PROS1):c.3G>C (p.Met1Ile)
|
rs1403076049
|
|
|
NM_000313.4(PROS1):c.470-2A>T
|
rs1708668246
|
|
|
NM_000313.4(PROS1):c.557G>A (p.Cys186Tyr)
|
rs779391826
|
|
|
NM_000313.4(PROS1):c.581C>A (p.Ser194Ter)
|
rs1708666412
|
|
|
NM_000313.4(PROS1):c.708del (p.Lys237fs)
|
|
|
|
NM_000313.4(PROS1):c.760C>T (p.Gln254Ter)
|
|
|
|
NM_000313.4(PROS1):c.77-2A>G
|
|
|
|
NM_000313.4(PROS1):c.793dup (p.Cys265fs)
|
rs2107158205
|
|
|
NM_000313.4(PROS1):c.820A>T (p.Lys274Ter)
|
rs1708536031
|
|
|
NM_000313.4(PROS1):c.835C>T (p.Gln279Ter)
|
rs121918475
|
|
|
NM_000313.4(PROS1):c.864C>A (p.Cys288Ter)
|
rs554787241
|
|
|
NM_000313.4(PROS1):c.967delinsGG (p.Phe323fs)
|
rs863224838
|
|
|
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)
|
rs778381859
|
|
|
NM_000355.4(TCN2):c.1033C>T (p.Gln345Ter)
|
|
|
|
NM_000355.4(TCN2):c.1090G>T (p.Glu364Ter)
|
|
|
|
NM_000355.4(TCN2):c.1117C>T (p.Gln373Ter)
|
rs1279321570
|
|
|
NM_000355.4(TCN2):c.1127dup (p.Leu376fs)
|
|
|
|
NM_000355.4(TCN2):c.1139dup (p.Tyr380Ter)
|
rs2087720794
|
|
|
NM_000355.4(TCN2):c.117dup (p.Pro40fs)
|
|
|
|
NM_000355.4(TCN2):c.134_155del (p.Leu45fs)
|
|
|
|
NM_000355.4(TCN2):c.236del (p.Gly79fs)
|
rs2087532435
|
|
|
NM_000355.4(TCN2):c.324C>A (p.Tyr108Ter)
|
|
|
|
NM_000355.4(TCN2):c.324C>G (p.Tyr108Ter)
|
|
|
|
NM_000355.4(TCN2):c.344del (p.Asn115fs)
|
|
|
|
NM_000355.4(TCN2):c.350_351insAC (p.Phe118fs)
|
|
|
|
NM_000355.4(TCN2):c.358_359del (p.Arg120fs)
|
|
|
|
NM_000355.4(TCN2):c.380del (p.Leu127fs)
|
|
|
|
NM_000355.4(TCN2):c.38del (p.Val13fs)
|
|
|
|
NM_000355.4(TCN2):c.420_421del (p.Arg140fs)
|
|
|
|
NM_000355.4(TCN2):c.426del (p.Ile142fs)
|
rs2087564577
|
|
|
NM_000355.4(TCN2):c.463dup (p.Tyr155fs)
|
|
|
|
NM_000355.4(TCN2):c.466C>T (p.Gln156Ter)
|
|
|
|
NM_000355.4(TCN2):c.494_495del (p.Cys165fs)
|
|
|
|
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter)
|
rs1456983114
|
|
|
NM_000355.4(TCN2):c.632dup (p.Asn212fs)
|
|
|
|
NM_000355.4(TCN2):c.649_650del (p.Gln217fs)
|
|
|
|
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
|
|
|
|
NM_000355.4(TCN2):c.766dup (p.Ser256fs)
|
rs1555895066
|
|
|
NM_000355.4(TCN2):c.86_87del (p.His29fs)
|
rs2087528394
|
|
|
NM_000355.4(TCN2):c.882del (p.Val295fs)
|
rs2145545140
|
|
|
NM_000355.4(TCN2):c.927_930del (p.Cys309fs)
|
rs1157135425
|
|
|
NM_000355.4(TCN2):c.937C>T (p.Arg313Ter)
|
|
|
|
NM_000355.4(TCN2):c.962dup (p.Thr322fs)
|
|
|
|
NM_000355.4(TCN2):c.964dup (p.Thr322fs)
|
|
|
|
NM_000355.4(TCN2):c.997dup (p.Thr333fs)
|
rs2145548128
|
|
|
NM_000377.3(WAS):c.-37_132+35del
|
rs1602176146
|
|
|
NM_000377.3(WAS):c.1001del (p.Gly334fs)
|
rs1569494025
|
|
|
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer)
|
rs1569494025
|
|
|
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)
|
rs132630271
|
|
|
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs)
|
rs2147266379
|
|
|
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
|
|
|
|
NM_000377.3(WAS):c.1058dup (p.Pro354fs)
|
rs1557007165
|
|
|
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
|
|
|
|
NM_000377.3(WAS):c.1085del (p.Pro362fs)
|
rs2147266474
|
|
|
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)
|
rs2062429013
|
|
|
NM_000377.3(WAS):c.1157del (p.Pro386fs)
|
rs886041379
|
|
|
NM_000377.3(WAS):c.11del (p.Gly4fs)
|
rs587776745
|
|
|
NM_000377.3(WAS):c.1203del (p.Pro402fs)
|
|
|
|
NM_000377.3(WAS):c.121C>T (p.Arg41Ter)
|
rs11545907
|
|
|
NM_000377.3(WAS):c.1221del (p.Asn408fs)
|
|
|
|
NM_000377.3(WAS):c.1266del (p.Gly424fs)
|
|
|
|
NM_000377.3(WAS):c.1271del (p.Gly424fs)
|
|
|
|
NM_000377.3(WAS):c.1271dup (p.Leu425fs)
|
rs1557007312
|
|
|
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
|
|
|
|
NM_000377.3(WAS):c.134C>T (p.Thr45Met)
|
rs132630273
|
|
|
NM_000377.3(WAS):c.1453+2T>G
|
rs2147267350
|
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
|
NM_000377.3(WAS):c.167C>T (p.Ala56Val)
|
rs132630269
|
|
|
NM_000377.3(WAS):c.172C>A (p.Pro58Thr)
|
rs2062412365
|
|
|
NM_000377.3(WAS):c.176del (p.Pro59fs)
|
rs2147262809
|
|
|
NM_000377.3(WAS):c.192G>A (p.Trp64Ter)
|
rs2147262855
|
|
|
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
|
|
|
|
NM_000377.3(WAS):c.238C>T (p.Gln80Ter)
|
rs2062412730
|
|
|
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)
|
rs2062412810
|
|
|
NM_000377.3(WAS):c.256del (p.Arg86fs)
|
|
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
|
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
|
|
|
|
NM_000377.3(WAS):c.271C>T (p.Gln91Ter)
|
rs1557006354
|
|
|
NM_000377.3(WAS):c.295del (p.Gln99fs)
|
|
|
|
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
|
|
|
|
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs)
|
rs2062416187
|
|
|
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs)
|
rs2062416272
|
|
|
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
|
|
|
|
NM_000377.3(WAS):c.355G>T (p.Gly119Ter)
|
rs1602177243
|
|
|
NM_000377.3(WAS):c.35dup (p.Arg13fs)
|
rs2062410421
|
|
|
NM_000377.3(WAS):c.360+1G>A
|
rs1057520700
|
|
|
NM_000377.3(WAS):c.361-1G>C
|
|
|
|
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)
|
rs193922415
|
|
|
NM_000377.3(WAS):c.382T>C (p.Phe128Leu)
|
rs2147263906
|
|
|
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
|
|
|
|
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
|
|
|
|
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
|
|
|
|
NM_000377.3(WAS):c.412dup (p.Arg138fs)
|
|
|
|
NM_000377.3(WAS):c.436del (p.Gln146fs)
|
rs2062417558
|
|
|
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
|
|
|
|
NM_000377.3(WAS):c.466del (p.Arg156fs)
|
|
|
|
NM_000377.3(WAS):c.470_471del (p.Arg157fs)
|
rs1602177562
|
|
|
NM_000377.3(WAS):c.539dup (p.His180fs)
|
rs2147264299
|
|
|
NM_000377.3(WAS):c.559+5G>A
|
rs886039451
|
|
|
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
|
|
|
|
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
|
|
|
|
NM_000377.3(WAS):c.631C>T (p.Arg211Ter)
|
rs1602178165
|
|
|
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer)
|
rs1602178184
|
|
|
NM_000377.3(WAS):c.692del (p.Lys231fs)
|
rs2062422078
|
|
|
NM_000377.3(WAS):c.701del (p.Ser234fs)
|
|
|
|
NM_000377.3(WAS):c.723del (p.Ser242fs)
|
rs2147264981
|
|
|
NM_000377.3(WAS):c.734+1G>C
|
|
|
|
NM_000377.3(WAS):c.734+2T>A
|
rs1569493877
|
|
|
NM_000377.3(WAS):c.735-2A>T
|
|
|
|
NM_000377.3(WAS):c.753dup (p.Trp252fs)
|
rs2147265693
|
|
|
NM_000377.3(WAS):c.777+1G>A
|
rs1057517845
|
|
|
NM_000377.3(WAS):c.778-6G>A
|
rs1557007011
|
|
|
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs)
|
rs1602178952
|
|
|
NM_000377.3(WAS):c.809T>C (p.Leu270Pro)
|
rs132630274
|
|
|
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs)
|
rs2147265917
|
|
|
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
|
|
|
|
NM_000377.3(WAS):c.858del (p.Ser287fs)
|
rs1602179000
|
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
|
NM_000377.3(WAS):c.91G>A (p.Glu31Lys)
|
rs1557006239
|
|
|
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)
|
rs1557007123
|
|
|
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
|
|
|
|
NM_000377.3(WAS):c.969del (p.Asn324fs)
|
|
|
|
NM_000397.4(CYBB):c.1010G>A (p.Trp337Ter)
|
rs1929500338
|
|
|
NM_000397.4(CYBB):c.1011G>A (p.Trp337Ter)
|
rs1569479943
|
|
|
NM_000397.4(CYBB):c.1012C>T (p.His338Tyr)
|
rs151344484
|
|
|
NM_000397.4(CYBB):c.1014C>G (p.His338Gln)
|
|
|
|
NM_000397.4(CYBB):c.1016C>A (p.Pro339His)
|
rs151344470
|
|
|
NM_000397.4(CYBB):c.1038del (p.Glu347fs)
|
|
|
|
NM_000397.4(CYBB):c.1082G>A (p.Trp361Ter)
|
rs2146817207
|
|
|
NM_000397.4(CYBB):c.1121del (p.Gln374fs)
|
|
|
|
NM_000397.4(CYBB):c.1139_1140delinsAA (p.Trp380Ter)
|
rs2146817260
|
|
|
NM_000397.4(CYBB):c.1140dup (p.Lys381fs)
|
rs193922445
|
|
|
NM_000397.4(CYBB):c.1150_1151+2del
|
|
|
|
NM_000397.4(CYBB):c.1151+1G>A
|
rs2146817275
|
|
|
NM_000397.4(CYBB):c.11G>A (p.Trp4Ter)
|
|
|
|
NM_000397.4(CYBB):c.1222G>A (p.Gly408Arg)
|
rs151344473
|
|
|
NM_000397.4(CYBB):c.1234G>A (p.Gly412Arg)
|
|
|
|
NM_000397.4(CYBB):c.1237dup (p.Val413fs)
|
rs1569480031
|
|
|
NM_000397.4(CYBB):c.123C>G (p.Tyr41Ter)
|
rs1928965653
|
|
|
NM_000397.4(CYBB):c.1244C>A (p.Pro415His)
|
rs137854585
|
|
|
NM_000397.4(CYBB):c.1244C>T (p.Pro415Leu)
|
rs137854585
|
|
|
NM_000397.4(CYBB):c.1245del (p.Phe416fs)
|
rs1929531349
|
|
|
NM_000397.4(CYBB):c.12G>A (p.Trp4Ter)
|
rs2146801959
|
|
|
NM_000397.4(CYBB):c.1313dup (p.Ile439fs)
|
rs1602183698
|
|
|
NM_000397.4(CYBB):c.1314+1G>A
|
rs2146818103
|
|
|
NM_000397.4(CYBB):c.1315-1G>A
|
rs1556471620
|
|
|
NM_000397.4(CYBB):c.1315-1G>C
|
rs1556471620
|
|
|
NM_000397.4(CYBB):c.1320C>G (p.Tyr440Ter)
|
rs200129367
|
|
|
NM_000397.4(CYBB):c.1328G>A (p.Trp443Ter)
|
|
|
|
NM_000397.4(CYBB):c.141+1G>C
|
rs1556464581
|
|
|
NM_000397.4(CYBB):c.141+1del
|
rs1928965951
|
|
|
NM_000397.4(CYBB):c.1414_1420del (p.Gly472fs)
|
|
|
|
NM_000397.4(CYBB):c.1466_1467del (p.Asn489fs)
|
rs1569480333
|
|
|
NM_000397.4(CYBB):c.1498G>T (p.Asp500Tyr)
|
|
|
|
NM_000397.4(CYBB):c.1500T>G (p.Asp500Glu)
|
|
|
|
NM_000397.4(CYBB):c.1519C>T (p.Gln507Ter)
|
rs2146821175
|
|
|
NM_000397.4(CYBB):c.1546T>A (p.Trp516Arg)
|
|
|
|
NM_000397.4(CYBB):c.1586+1G>A
|
|
|
|
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg)
|
rs151344454
|
|
|
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter)
|
rs2146822029
|
|
|
NM_000397.4(CYBB):c.1645C>T (p.Gln549Ter)
|
rs1929658430
|
|
|
NM_000397.4(CYBB):c.1673del (p.Pro558fs)
|
rs2146822068
|
|
|
NM_000397.4(CYBB):c.1689del (p.Phe563fs)
|
rs1602186299
|
|
|
NM_000397.4(CYBB):c.1702G>A (p.Glu568Lys)
|
rs1556473119
|
|
|
NM_000397.4(CYBB):c.170C>A (p.Ala57Glu)
|
rs151344481
|
|
|
NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)
|
rs137854588
|
|
|
NM_000397.4(CYBB):c.252+5G>A
|
rs1602175016
|
|
|
NM_000397.4(CYBB):c.252G>A (p.Ala84=)
|
rs387906485
|
|
|
NM_000397.4(CYBB):c.271C>T (p.Arg91Ter)
|
rs886041192
|
|
|
NM_000397.4(CYBB):c.318G>A (p.Trp106Ter)
|
|
|
|
NM_000397.4(CYBB):c.37_45+2del
|
rs1556464116
|
|
|
NM_000397.4(CYBB):c.388C>T (p.Arg130Ter)
|
rs180899069
|
|
|
NM_000397.4(CYBB):c.389G>C (p.Arg130Pro)
|
rs193922448
|
|
|
NM_000397.4(CYBB):c.3G>A (p.Met1Ile)
|
rs2146801939
|
|
|
NM_000397.4(CYBB):c.40del (p.Val14fs)
|
|
|
|
NM_000397.4(CYBB):c.446del (p.Asn149fs)
|
rs1929244686
|
|
|
NM_000397.4(CYBB):c.45+1G>T
|
|
|
|
NM_000397.4(CYBB):c.45+2dup
|
|
|
|
NM_000397.4(CYBB):c.45+6T>C
|
rs1569478551
|
|
|
NM_000397.4(CYBB):c.46-2A>T
|
rs2146803092
|
|
|
NM_000397.4(CYBB):c.466G>A (p.Ala156Thr)
|
rs137854590
|
|
|
NM_000397.4(CYBB):c.469C>T (p.Arg157Ter)
|
rs886039335
|
|
|
NM_000397.4(CYBB):c.483+1G>A
|
rs1131691828
|
|
|
NM_000397.4(CYBB):c.525dup (p.Gly176fs)
|
|
|
|
NM_000397.4(CYBB):c.565del (p.Ile189fs)
|
rs2146811730
|
|
|
NM_000397.4(CYBB):c.58G>A (p.Gly20Arg)
|
rs151344455
|
|
|
NM_000397.4(CYBB):c.603C>G (p.Tyr201Ter)
|
rs2146811786
|
|
|
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter)
|
rs193922449
|
|
|
NM_000397.4(CYBB):c.643TTC[1] (p.Phe216del)
|
rs1929302971
|
|
|
NM_000397.4(CYBB):c.665A>G (p.His222Arg)
|
rs151344462
|
|
|
NM_000397.4(CYBB):c.666T>A (p.His222Gln)
|
rs2146811863
|
|
|
NM_000397.4(CYBB):c.674+1G>A
|
rs1929304640
|
|
|
NM_000397.4(CYBB):c.675-2A>G
|
rs2146813622
|
|
|
NM_000397.4(CYBB):c.693_694del (p.Gln231fs)
|
rs1929376118
|
|
|
NM_000397.4(CYBB):c.703_704del (p.Ser235fs)
|
|
|
|
NM_000397.4(CYBB):c.736C>T (p.Gln246Ter)
|
rs782756433
|
|
|
NM_000397.4(CYBB):c.742dup (p.Ile248fs)
|
rs886041194
|
|
|
NM_000397.4(CYBB):c.755del (p.Gly252fs)
|
|
|
|
NM_000397.4(CYBB):c.75del (p.Phe26fs)
|
|
|
|
NM_000397.4(CYBB):c.781C>T (p.Gln261Ter)
|
rs1556469197
|
|
|
NM_000397.4(CYBB):c.80_83del (p.Val27fs)
|
rs1556464554
|
|
|
NM_000397.4(CYBB):c.840T>A (p.Tyr280Ter)
|
rs1929432929
|
|
|
NM_000397.4(CYBB):c.840T>G (p.Tyr280Ter)
|
rs1929432929
|
|
|
NM_000397.4(CYBB):c.866G>A (p.Trp289Ter)
|
|
|
|
NM_000397.4(CYBB):c.868C>T (p.Arg290Ter)
|
rs886039337
|
|
|
NM_000397.4(CYBB):c.886del (p.Val296fs)
|
|
|
|
NM_000397.4(CYBB):c.906_909del (p.His303fs)
|
rs1929497736
|
|
|
NM_000397.4(CYBB):c.921_931del (p.Ile308fs)
|
rs2146817045
|
|
|
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys)
|
rs151344466
|
|
|
NM_000397.4(CYBB):c.960del (p.Val321fs)
|
rs1556470775
|
|
|
NM_000397.4(CYBB):c.965G>A (p.Gly322Glu)
|
rs151344467
|
|
|
NM_000397.4(CYBB):c.978del (p.Phe326fs)
|
rs2146817094
|
|
|
NM_000397.4(CYBB):c.987C>A (p.Cys329Ter)
|
rs1929499524
|
|
|
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser)
|
rs137852333
|
|
|
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)
|
rs387906468
|
|
|
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)
|
rs137852334
|
|
|
NM_000402.4(G6PD):c.1250G>A (p.Arg417His)
|
rs137852321
|
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
|
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
|
rs72554665
|
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
|
NM_000402.4(G6PD):c.683G>A (p.Arg228His)
|
rs137852332
|
|
|
NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter)
|
|
|
|
NM_000419.5(ITGA2B):c.1253del (p.Gly418fs)
|
rs2143465205
|
|
|
NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter)
|
|
|
|
NM_000419.5(ITGA2B):c.1590del (p.Gln531fs)
|
|
|
|
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter)
|
rs137852906
|
|
|
NM_000419.5(ITGA2B):c.2094+2T>C
|
rs1555613692
|
|
|
NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs)
|
rs1598377980
|
|
|
NM_000419.5(ITGA2B):c.2290del (p.Ser764fs)
|
|
|
|
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)
|
rs1598377051
|
|
|
NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter)
|
rs200846140
|
|
|
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs)
|
rs2048523750
|
|
|
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)
|
rs766503255
|
|
|
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)
|
rs2048642260
|
|
|
NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)
|
|
|
|
NM_000419.5(ITGA2B):c.559del (p.Val187fs)
|
rs1469711487
|
|
|
NM_000433.4(NCF2):c.1038_1039del (p.Ser347fs)
|
|
|
|
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)
|
|
|
|
NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter)
|
rs1572151178
|
|
|
NM_000433.4(NCF2):c.1162G>T (p.Glu388Ter)
|
rs1349405769
|
|
|
NM_000433.4(NCF2):c.1165_1171del (p.His389fs)
|
|
|
|
NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs)
|
rs796065031
|
|
|
NM_000433.4(NCF2):c.1321_1325del (p.Lys440_Glu441insTer)
|
rs1472146831
|
|
|
NM_000433.4(NCF2):c.172A>T (p.Lys58Ter)
|
|
|
|
NM_000433.4(NCF2):c.196C>T (p.Arg66Ter)
|
rs750782115
|
|
|
NM_000433.4(NCF2):c.1A>T (p.Met1Leu)
|
rs780810631
|
|
|
NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)
|
|
|
|
NM_000433.4(NCF2):c.236del (p.Met79fs)
|
|
|
|
NM_000433.4(NCF2):c.246C>A (p.Tyr82Ter)
|
|
|
|
NM_000433.4(NCF2):c.251_254del (p.Thr84fs)
|
rs2102934288
|
|
|
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter)
|
rs119103276
|
|
|
NM_000433.4(NCF2):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000433.4(NCF2):c.30G>A (p.Trp10Ter)
|
rs2102942512
|
|
|
NM_000433.4(NCF2):c.343C>T (p.Gln115Ter)
|
|
|
|
NM_000433.4(NCF2):c.40del (p.Val14fs)
|
rs1290169467
|
|
|
NM_000433.4(NCF2):c.417del (p.Ala140fs)
|
|
|
|
NM_000433.4(NCF2):c.475del (p.Ile159fs)
|
|
|
|
NM_000433.4(NCF2):c.482del (p.Lys161fs)
|
rs1558098982
|
|
|
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
|
|
|
|
NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del)
|
rs796065033
|
|
|
NM_000433.4(NCF2):c.574C>T (p.Gln192Ter)
|
|
|
|
NM_000433.4(NCF2):c.65G>A (p.Trp22Ter)
|
|
|
|
NM_000433.4(NCF2):c.728del (p.Glu243fs)
|
|
|
|
NM_000433.4(NCF2):c.830G>A (p.Trp277Ter)
|
rs2102890652
|
|
|
NM_000433.4(NCF2):c.835_836del (p.Thr279fs)
|
rs1064794299
|
|
|
NM_000433.4(NCF2):c.873C>A (p.Cys291Ter)
|
|
|
|
NM_000433.4(NCF2):c.904del (p.His302fs)
|
rs777621636
|
|
|
NM_000433.4(NCF2):c.910C>T (p.Gln304Ter)
|
rs774932046
|
|
|
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)
|
|
|
|
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter)
|
rs483352856
|
|
|
NM_000488.4(SERPINC1):c.1060del (p.Arg354fs)
|
rs863224495
|
|
|
NM_000488.4(SERPINC1):c.1154-14G>A
|
rs542881762
|
|
|
NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)
|
|
|
|
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter)
|
rs2102778910
|
|
|
NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)
|
|
|
|
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr)
|
rs121909557
|
|
|
NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro)
|
rs121909548
|
|
|
NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys)
|
rs121909554
|
|
|
NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His)
|
rs121909549
|
|
|
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr)
|
rs121909546
|
|
|
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)
|
|
|
|
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)
|
|
|
|
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter)
|
|
|
|
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter)
|
|
|
|
NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)
|
|
|
|
NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn)
|
rs1657909645
|
|
|
NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp)
|
|
|
|
NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter)
|
rs2102789590
|
|
|
NM_000488.4(SERPINC1):c.409-1G>C
|
|
|
|
NM_000488.4(SERPINC1):c.409-1G>T
|
|
|
|
NM_000488.4(SERPINC1):c.415_420del (p.Lys139_Phe140del)
|
rs1572090368
|
|
|
NM_000488.4(SERPINC1):c.448dup (p.Gln150fs)
|
rs1572090305
|
|
|
NM_000488.4(SERPINC1):c.456CTT[2] (p.Phe155del)
|
rs786204063
|
|
|
NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter)
|
rs121909562
|
|
|
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
|
|
|
|
NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter)
|
rs2102785788
|
|
|
NM_000488.4(SERPINC1):c.766del (p.Leu256fs)
|
rs1572088865
|
|
|
NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs)
|
rs1657694750
|
|
|
NM_000488.4(SERPINC1):c.98dup (p.His33fs)
|
|
|
|
NM_000506.5(F2):c.1015C>T (p.Arg339Ter)
|
|
|
|
NM_000506.5(F2):c.1159C>T (p.Gln387Ter)
|
rs2064886777
|
|
|
NM_000506.5(F2):c.13C>T (p.Arg5Ter)
|
|
|
|
NM_000506.5(F2):c.1499G>A (p.Arg500Gln)
|
rs202003146
|
|
|
NM_000506.5(F2):c.1678C>T (p.Arg560Ter)
|
|
|
|
NM_000506.5(F2):c.1786C>T (p.Arg596Trp)
|
|
|
|
NM_000506.5(F2):c.1787G>A (p.Arg596Gln)
|
rs387907201
|
|
|
NM_000506.5(F2):c.349C>T (p.Arg117Ter)
|
|
|
|
NM_000506.5(F2):c.392dup (p.Trp132fs)
|
|
|
|
NM_000506.5(F2):c.923_926del (p.Asp308fs)
|
|
|
|
NM_000506.5(F2):c.954dup (p.Glu319Ter)
|
|
|
|
NM_000551.3(VHL):c.464-?_*3705del
|
|
|
|
NM_000551.4(VHL):c.163dup (p.Glu55fs)
|
rs869025615
|
|
|
NM_000551.4(VHL):c.164_171dup (p.Arg60fs)
|
rs886041345
|
|
|
NM_000551.4(VHL):c.179_192del (p.Arg60fs)
|
rs1064796408
|
|
|
NM_000551.4(VHL):c.180del (p.Val62fs)
|
rs730882037
|
|
|
NM_000551.4(VHL):c.182_183del (p.Pro61fs)
|
|
|
|
NM_000551.4(VHL):c.184del (p.Val62fs)
|
|
|
|
NM_000551.4(VHL):c.189_193dup (p.Ser65fs)
|
|
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
|
NM_000551.4(VHL):c.191dup (p.Ser65fs)
|
|
|
|
NM_000551.4(VHL):c.193T>A (p.Ser65Thr)
|
rs869025616
|
|
|
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)
|
rs5030826
|
|
|
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)
|
rs5030826
|
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
|
NM_000551.4(VHL):c.202T>C (p.Ser68Pro)
|
|
|
|
NM_000551.4(VHL):c.203C>A (p.Ser68Ter)
|
rs869025617
|
|
|
NM_000551.4(VHL):c.204dup (p.Arg69fs)
|
|
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
|
NM_000551.4(VHL):c.209A>G (p.Glu70Gly)
|
rs786202857
|
|
|
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)
|
rs869025618
|
|
|
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)
|
rs869025619
|
|
|
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)
|
rs5030648
|
|
|
NM_000551.4(VHL):c.226_227del (p.Phe76fs)
|
rs1060503552
|
|
|
NM_000551.4(VHL):c.231C>A (p.Cys77Ter)
|
|
|
|
NM_000551.4(VHL):c.232A>G (p.Asn78Asp)
|
rs869025621
|
|
|
NM_000551.4(VHL):c.233A>C (p.Asn78Thr)
|
rs5030804
|
|
|
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)
|
rs5030804
|
|
|
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)
|
rs786202787
|
|
|
NM_000551.4(VHL):c.239G>A (p.Ser80Asn)
|
rs5030805
|
|
|
NM_000551.4(VHL):c.239G>T (p.Ser80Ile)
|
rs5030805
|
|
|
NM_000551.4(VHL):c.241_244dup (p.Arg82fs)
|
rs2125125103
|
|
|
NM_000551.4(VHL):c.244C>G (p.Arg82Gly)
|
rs1214305423
|
|
|
NM_000551.4(VHL):c.244_259dup (p.Val87fs)
|
rs2125125105
|
|
|
NM_000551.4(VHL):c.245G>T (p.Arg82Leu)
|
rs794726890
|
|
|
NM_000551.4(VHL):c.250G>A (p.Val84Met)
|
rs5030827
|
|
|
NM_000551.4(VHL):c.250G>C (p.Val84Leu)
|
rs5030827
|
|
|
NM_000551.4(VHL):c.250G>T (p.Val84Leu)
|
rs5030827
|
|
|
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)
|
rs398123481
|
|
|
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)
|
rs398123481
|
|
|
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)
|
rs730882034
|
|
|
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)
|
rs730882034
|
|
|
NM_000551.4(VHL):c.258del (p.Val87fs)
|
rs864622545
|
|
|
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)
|
rs1553619431
|
|
|
NM_000551.4(VHL):c.262T>C (p.Trp88Arg)
|
rs1553619431
|
|
|
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)
|
rs119103277
|
|
|
NM_000551.4(VHL):c.264G>A (p.Trp88Ter)
|
rs869025622
|
|
|
NM_000551.4(VHL):c.264G>C (p.Trp88Cys)
|
rs869025622
|
|
|
NM_000551.4(VHL):c.264G>T (p.Trp88Cys)
|
rs869025622
|
|
|
NM_000551.4(VHL):c.264_267dup (p.Asn90fs)
|
rs1696134947
|
|
|
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)
|
rs5030807
|
|
|
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)
|
rs5030808
|
|
|
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)
|
rs1553619440
|
|
|
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)
|
rs5030829
|
|
|
NM_000551.4(VHL):c.291_292delinsAC (p.Tyr98His)
|
|
|
|
NM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del)
|
rs1575922296
|
|
|
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)
|
rs864321643
|
|
|
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)
|
rs864321643
|
|
|
NM_000551.4(VHL):c.298del (p.Thr100fs)
|
rs2125125269
|
|
|
NM_000551.4(VHL):c.305dup (p.Pro103fs)
|
|
|
|
NM_000551.4(VHL):c.310_311insC (p.Gly104fs)
|
|
|
|
NM_000551.4(VHL):c.314dup (p.Arg107fs)
|
rs2125125325
|
|
|
NM_000551.4(VHL):c.319C>A (p.Arg107Ser)
|
|
|
|
NM_000551.4(VHL):c.320G>A (p.Arg107His)
|
rs193922609
|
|
|
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)
|
rs193922609
|
|
|
NM_000551.4(VHL):c.329del (p.His110fs)
|
rs1559426199
|
|
|
NM_000551.4(VHL):c.329dup (p.His110fs)
|
|
|
|
NM_000551.4(VHL):c.330_331delinsTT (p.Ser111Cys)
|
|
|
|
NM_000551.4(VHL):c.331A>G (p.Ser111Gly)
|
rs1559426203
|
|
|
NM_000551.4(VHL):c.331A>T (p.Ser111Cys)
|
rs1559426203
|
|
|
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)
|
rs869025631
|
|
|
NM_000551.4(VHL):c.333C>G (p.Ser111Arg)
|
rs765978945
|
|
|
NM_000551.4(VHL):c.334T>C (p.Tyr112His)
|
rs104893824
|
|
|
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)
|
rs869025633
|
|
|
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)
|
rs751232153
|
|
|
NM_000551.4(VHL):c.337C>T (p.Arg113Ter)
|
rs5030810
|
|
|
NM_000551.4(VHL):c.339_340+5del
|
rs1575922562
|
|
|
NM_000551.4(VHL):c.340+1G>A
|
rs730882032
|
|
|
NM_000551.4(VHL):c.340+1G>C
|
rs730882032
|
|
|
NM_000551.4(VHL):c.340+2T>G
|
|
|
|
NM_000551.4(VHL):c.340G>A (p.Gly114Ser)
|
rs869025636
|
|
|
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)
|
rs869025636
|
|
|
NM_000551.4(VHL):c.341-11T>A
|
rs2125128187
|
|
|
NM_000551.4(VHL):c.341-2A>G
|
rs869025637
|
|
|
NM_000551.4(VHL):c.341-2A>T
|
|
|
|
NM_000551.4(VHL):c.344A>G (p.His115Arg)
|
rs5030812
|
|
|
NM_000551.4(VHL):c.349T>C (p.Trp117Arg)
|
|
|
|
NM_000551.4(VHL):c.349T>G (p.Trp117Gly)
|
rs1696261074
|
|
|
NM_000551.4(VHL):c.352_353insA (p.Leu118fs)
|
rs869025641
|
|
|
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)
|
rs5030830
|
|
|
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)
|
rs1553619948
|
|
|
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)
|
rs1559428077
|
|
|
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)
|
|
|
|
NM_000551.4(VHL):c.363dup (p.Ala122fs)
|
rs1575927767
|
|
|
NM_000551.4(VHL):c.370A>G (p.Thr124Ala)
|
rs1559428091
|
|
|
NM_000551.4(VHL):c.372_375del (p.His125fs)
|
|
|
|
NM_000551.4(VHL):c.374_375del (p.His125fs)
|
rs869025644
|
|
|
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs)
|
rs1696262643
|
|
|
NM_000551.4(VHL):c.377del (p.Asp126fs)
|
rs1553619952
|
|
|
NM_000551.4(VHL):c.382_388del (p.Leu129fs)
|
|
|
|
NM_000551.4(VHL):c.383T>C (p.Leu128Pro)
|
rs2125128327
|
|
|
NM_000551.4(VHL):c.386T>C (p.Leu129Pro)
|
rs1559428119
|
|
|
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
|
|
|
|
NM_000551.4(VHL):c.388G>C (p.Val130Leu)
|
rs104893830
|
|
|
NM_000551.4(VHL):c.392A>G (p.Asn131Ser)
|
rs1553619963
|
|
|
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)
|
rs1064794272
|
|
|
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)
|
rs5030813
|
|
|
NM_000551.4(VHL):c.397del (p.Thr133fs)
|
rs1559428134
|
|
|
NM_000551.4(VHL):c.400G>T (p.Glu134Ter)
|
rs2125128363
|
|
|
NM_000551.4(VHL):c.406T>G (p.Phe136Val)
|
|
|
|
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)
|
rs5030833
|
|
|
NM_000551.4(VHL):c.408dup (p.Val137fs)
|
|
|
|
NM_000551.4(VHL):c.414A>G (p.Pro138=)
|
rs869025648
|
|
|
NM_000551.4(VHL):c.419_420del (p.Leu140fs)
|
rs869025649
|
|
|
NM_000551.4(VHL):c.422dup (p.Asn141fs)
|
rs1553619976
|
|
|
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)
|
rs869025650
|
|
|
NM_000551.4(VHL):c.435_436del (p.Gln145fs)
|
rs869025652
|
|
|
NM_000551.4(VHL):c.444del (p.Phe148fs)
|
rs869025653
|
|
|
NM_000551.4(VHL):c.445G>C (p.Ala149Pro)
|
rs587780077
|
|
|
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)
|
rs587780077
|
|
|
NM_000551.4(VHL):c.448_449del (p.Asn150fs)
|
rs1696266605
|
|
|
NM_000551.4(VHL):c.449del (p.Asn150fs)
|
rs794727253
|
|
|
NM_000551.4(VHL):c.452T>C (p.Ile151Thr)
|
rs869025655
|
|
|
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)
|
rs1553619993
|
|
|
NM_000551.4(VHL):c.461C>T (p.Pro154Leu)
|
rs1399097617
|
|
|
NM_000551.4(VHL):c.463+1G>A
|
rs869025657
|
|
|
NM_000551.4(VHL):c.463+1G>T
|
rs869025657
|
|
|
NM_000551.4(VHL):c.463+2T>C
|
rs5030814
|
|
|
NM_000551.4(VHL):c.463G>A (p.Val155Met)
|
rs869025659
|
|
|
NM_000551.4(VHL):c.464-1G>A
|
rs5030817
|
|
|
NM_000551.4(VHL):c.464-1G>T
|
rs5030817
|
|
|
NM_000551.4(VHL):c.464-2A>C
|
|
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
|
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)
|
rs397516441
|
|
|
NM_000551.4(VHL):c.472C>G (p.Leu158Val)
|
rs1559429613
|
|
|
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)
|
rs121913346
|
|
|
NM_000551.4(VHL):c.475A>T (p.Lys159Ter)
|
rs1575932011
|
|
|
NM_000551.4(VHL):c.477del (p.Glu160fs)
|
rs730882020
|
|
|
NM_000551.4(VHL):c.481C>G (p.Arg161Gly)
|
rs5030818
|
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
|
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)
|
rs730882035
|
|
|
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)
|
rs1553620313
|
|
|
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)
|
rs397516444
|
|
|
NM_000551.4(VHL):c.485_486delinsTT (p.Cys162Phe)
|
|
|
|
NM_000551.4(VHL):c.486C>A (p.Cys162Ter)
|
rs5030622
|
|
|
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)
|
rs5030622
|
|
|
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)
|
rs1553620318
|
|
|
NM_000551.4(VHL):c.488T>G (p.Leu163Arg)
|
rs28940297
|
|
|
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)
|
rs5030819
|
|
|
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)
|
rs267607170
|
|
|
NM_000551.4(VHL):c.492G>T (p.Gln164His)
|
rs1352275281
|
|
|
NM_000551.4(VHL):c.493del (p.Val165fs)
|
|
|
|
NM_000551.4(VHL):c.496G>T (p.Val166Phe)
|
rs104893825
|
|
|
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)
|
rs5030820
|
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
|
NM_000551.4(VHL):c.500G>T (p.Arg167Leu)
|
rs5030821
|
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
|
NM_000551.4(VHL):c.504_519del (p.Ser168fs)
|
rs2125130543
|
|
|
NM_000551.4(VHL):c.505dup (p.Leu169fs)
|
rs1696357569
|
|
|
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)
|
rs193922613
|
|
|
NM_000551.4(VHL):c.524dup (p.Tyr175Ter)
|
|
|
|
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)
|
rs5030835
|
|
|
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)
|
rs5030822
|
|
|
NM_000551.4(VHL):c.533_534del (p.Leu178fs)
|
rs1559429736
|
|
|
NM_000551.4(VHL):c.540_543del (p.Val181fs)
|
rs869025664
|
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
|
NM_000551.4(VHL):c.555C>A (p.Tyr185Ter)
|
|
|
|
NM_000551.4(VHL):c.563T>C (p.Leu188Pro)
|
rs1559429824
|
|
|
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)
|
rs902694906
|
|
|
NM_000551.4(VHL):c.581T>G (p.Val194Gly)
|
rs1131690963
|
|
|
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)
|
rs281860296
|
|
|
NM_000631.5(NCF4):c.256del (p.Leu86fs)
|
|
|
|
NM_000631.5(NCF4):c.367del (p.Val123fs)
|
|
|
|
NM_000631.5(NCF4):c.456del (p.Arg153fs)
|
|
|
|
NM_000631.5(NCF4):c.758+28_758+29insA
|
|
|
|
NM_000631.5(NCF4):c.758+36_758+81del
|
|
|
|
NM_000631.5(NCF4):c.759-19C>T
|
|
|
|
NM_000631.5(NCF4):c.759-24T>G
|
|
|
|
NM_000631.5(NCF4):c.759-40C>T
|
|
|
|
NM_000760.4(CSF3R):c.1003del (p.Thr335fs)
|
|
|
|
NM_000760.4(CSF3R):c.1072-1G>A
|
|
|
|
NM_000760.4(CSF3R):c.1072-1G>C
|
rs992318824
|
|
|
NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter)
|
|
|
|
NM_000760.4(CSF3R):c.1216dup (p.Val406fs)
|
rs890101650
|
|
|
NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs)
|
|
|
|
NM_000760.4(CSF3R):c.1404del (p.Ser469fs)
|
rs747437399
|
|
|
NM_000760.4(CSF3R):c.1488del (p.Gln498fs)
|
|
|
|
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter)
|
rs1236469336
|
|
|
NM_000760.4(CSF3R):c.203_221del (p.Glu68fs)
|
rs757401069
|
|
|
NM_000760.4(CSF3R):c.218dup (p.Arg74fs)
|
rs765536522
|
|
|
NM_000760.4(CSF3R):c.296_299del (p.Leu99fs)
|
|
|
|
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter)
|
rs2124152665
|
|
|
NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer)
|
rs2124127693
|
|
|
NM_000760.4(CSF3R):c.690dup (p.Met231fs)
|
|
|
|
NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter)
|
|
|
|
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter)
|
rs767458386
|
|
|
NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter)
|
rs1650834725
|
|
|
NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer)
|
rs1570588220
|
|
|
NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
|
|
|
|
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)
|
rs1060503527
|
|
|
NM_000969.5(RPL5):c.153del (p.Met51fs)
|
rs2100677043
|
|
|
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
|
rs1571024385
|
|
|
NM_000969.5(RPL5):c.15dup (p.Val6fs)
|
rs1686990676
|
|
|
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)
|
rs1558284033
|
|
|
NM_000969.5(RPL5):c.173del (p.Arg58fs)
|
|
|
|
NM_000969.5(RPL5):c.175_176del (p.Asp59fs)
|
rs1571024430
|
|
|
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter)
|
rs1558284062
|
|
|
NM_000969.5(RPL5):c.1A>C (p.Met1Leu)
|
rs2100672432
|
|
|
NM_000969.5(RPL5):c.215_218del (p.Asp72fs)
|
|
|
|
NM_000969.5(RPL5):c.256dup (p.Tyr86fs)
|
rs1553121909
|
|
|
NM_000969.5(RPL5):c.272del (p.Gly91fs)
|
|
|
|
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000969.5(RPL5):c.4-7_4-4del
|
rs1558283792
|
|
|
NM_000969.5(RPL5):c.479_480del (p.Phe160fs)
|
|
|
|
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
|
rs148673599
|
|
|
NM_000969.5(RPL5):c.500dup (p.Asp168fs)
|
rs2100685034
|
|
|
NM_000969.5(RPL5):c.608dup (p.Asn203fs)
|
rs2100688383
|
|
|
NM_000969.5(RPL5):c.634dup (p.Met212fs)
|
rs1687178005
|
|
|
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)
|
rs121434405
|
|
|
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)
|
rs1558283853
|
|
|
NM_000969.5(RPL5):c.71del (p.Arg24fs)
|
|
|
|
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
|
|
|
|
NM_000969.5(RPL5):c.9_12del (p.Phe3fs)
|
rs1686990557
|
|
|
NM_000975.5(RPL11):c.100dup (p.Thr34fs)
|
|
|
|
NM_000975.5(RPL11):c.107del (p.Ala36fs)
|
rs2124429127
|
|
|
NM_000975.5(RPL11):c.111del (p.Lys38fs)
|
rs1553121684
|
|
|
NM_000975.5(RPL11):c.121G>T (p.Glu41Ter)
|
rs2124429140
|
|
|
NM_000975.5(RPL11):c.151dup (p.Ser51fs)
|
rs2124429183
|
|
|
NM_000975.5(RPL11):c.158-1G>A
|
rs151155897
|
|
|
NM_000975.5(RPL11):c.160dup (p.Arg54fs)
|
rs1644516691
|
|
|
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)
|
rs121434389
|
|
|
NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
|
|
|
|
NM_000975.5(RPL11):c.311del (p.Asn104fs)
|
|
|
|
NM_000975.5(RPL11):c.508-2A>G
|
rs1570569383
|
|
|
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)
|
rs1570566590
|
|
|
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
|
rs1570566592
|
|
|
NM_000975.5(RPL11):c.96_109del (p.Arg32fs)
|
|
|
|
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)
|
rs1560120302
|
|
|
NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)
|
|
|
|
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)
|
rs1553811551
|
|
|
NM_001006658.3(CR2):c.1102C>T (p.Arg368Ter)
|
|
|
|
NM_001006658.3(CR2):c.1174C>T (p.Arg392Ter)
|
|
|
|
NM_001006658.3(CR2):c.1191del (p.Thr398fs)
|
rs1658223688
|
|
|
NM_001006658.3(CR2):c.1225+1G>C
|
rs398122864
|
|
|
NM_001006658.3(CR2):c.1231C>T (p.Gln411Ter)
|
|
|
|
NM_001006658.3(CR2):c.1458del (p.Phe486fs)
|
|
|
|
NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter)
|
|
|
|
NM_001006658.3(CR2):c.1646del (p.Gly549fs)
|
rs1658320297
|
|
|
NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs)
|
rs1558192723
|
|
|
NM_001006658.3(CR2):c.1877_1878del (p.Val626fs)
|
|
|
|
NM_001006658.3(CR2):c.1893T>A (p.Tyr631Ter)
|
rs1331358695
|
|
|
NM_001006658.3(CR2):c.2176_2177dup (p.Gln726fs)
|
rs1658357615
|
|
|
NM_001006658.3(CR2):c.2244C>A (p.Tyr748Ter)
|
|
|
|
NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter)
|
|
|
|
NM_001006658.3(CR2):c.2423del (p.Asp808fs)
|
|
|
|
NM_001006658.3(CR2):c.243del (p.Lys81fs)
|
rs1572950925
|
|
|
NM_001006658.3(CR2):c.2518C>T (p.Arg840Ter)
|
rs766671758
|
|
|
NM_001006658.3(CR2):c.2864_2865del (p.His955fs)
|
rs2102308703
|
|
|
NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs)
|
|
|
|
NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter)
|
rs369363360
|
|
|
NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter)
|
|
|
|
NM_001006658.3(CR2):c.40dup (p.Val14fs)
|
|
|
|
NM_001006658.3(CR2):c.412del (p.Trp138fs)
|
|
|
|
NM_001006658.3(CR2):c.592_595del (p.Ser199fs)
|
rs868255776
|
|
|
NM_001006658.3(CR2):c.593dup (p.Leu198fs)
|
rs763336891
|
|
|
NM_001006658.3(CR2):c.623_624del (p.Pro208fs)
|
rs747832403
|
|
|
NM_001006658.3(CR2):c.624dup (p.Thr209fs)
|
rs747832403
|
|
|
NM_001006658.3(CR2):c.717del (p.Phe241fs)
|
rs1468427986
|
|
|
NM_001006658.3(CR2):c.721_722del (p.Phe241fs)
|
rs749636258
|
|
|
NM_001011.4(RPS7):c.-19+1G>T
|
|
|
|
NM_001011.4(RPS7):c.-19+2T>A
|
|
|
|
NM_001014.5(RPS10):c.1A>G (p.Met1Val)
|
rs2113806114
|
|
|
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
|
rs1581931439
|
|
|
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)
|
rs267607022
|
|
|
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)
|
|
|
|
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)
|
rs2147404831
|
|
|
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)
|
|
|
|
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter)
|
rs2147445599
|
|
|
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter)
|
rs531943246
|
|
|
NM_001018115.3(FANCD2):c.1078del (p.Ile360fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1102_1103insCC (p.Ile368fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1116del (p.Ser373fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer)
|
rs2125000318
|
|
|
NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1577dup (p.Gln527fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)
|
|
|
|
NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter)
|
rs1247410343
|
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
|
NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)
|
rs757567225
|
|
|
NM_001018115.3(FANCD2):c.1916del (p.Ile639fs)
|
|
|
|
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs)
|
rs1221526082
|
|
|
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2109_2110insGAGGT (p.Phe704fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2138del (p.Gly713fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2158dup (p.Ser720fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
|
|
|
|
NM_001018115.3(FANCD2):c.230del (p.Lys77fs)
|
rs770835633
|
|
|
NM_001018115.3(FANCD2):c.2333_2334del (p.Glu778fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2354_2355del (p.Leu785fs)
|
|
|
|
NM_001018115.3(FANCD2):c.235dup (p.Leu79fs)
|
rs2124974621
|
|
|
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)
|
rs1374735618
|
|
|
NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)
|
rs1289665675
|
|
|
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2809del (p.His937fs)
|
|
|
|
NM_001018115.3(FANCD2):c.280del (p.Glu94fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2837T>G (p.Leu946Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)
|
|
|
|
NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter)
|
rs762724830
|
|
|
NM_001018115.3(FANCD2):c.2854del (p.Thr952fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3044del (p.Cys1015fs)
|
|
|
|
NM_001018115.3(FANCD2):c.308_312del (p.Ser102_Tyr103insTer)
|
|
|
|
NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs)
|
rs2125060144
|
|
|
NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter)
|
rs2125072527
|
|
|
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)
|
rs1559403654
|
|
|
NM_001018115.3(FANCD2):c.347_351del (p.Leu115_Ser116insTer)
|
|
|
|
NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3501del (p.Trp1167fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3502_3503insT (p.Pro1168fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter)
|
rs1694376599
|
|
|
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)
|
rs757499508
|
|
|
NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter)
|
rs148471911
|
|
|
NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.400_401del (p.Leu135fs)
|
|
|
|
NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
|
|
|
|
NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter)
|
rs954149471
|
|
|
NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.553dup (p.Arg185fs)
|
rs1553607671
|
|
|
NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.694del (p.Ser232fs)
|
|
|
|
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs)
|
rs2086865775
|
|
|
NM_001018115.3(FANCD2):c.723_737delinsTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGCCTCCGACTGGATGTC (p.Thr242fs)
|
|
|
|
NM_001018115.3(FANCD2):c.775del (p.Leu259fs)
|
rs2124989402
|
|
|
NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)
|
|
|
|
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)
|
rs121917788
|
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
|
NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)
|
|
|
|
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)
|
rs1283566463
|
|
|
NM_001022.4(RPS19):c.101del (p.Val34fs)
|
|
|
|
NM_001022.4(RPS19):c.13dup (p.Thr5fs)
|
rs149420497
|
|
|
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
|
|
|
|
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer)
|
rs2074020491
|
|
|
NM_001022.4(RPS19):c.173-1G>T
|
rs2123283622
|
|
|
NM_001022.4(RPS19):c.173-2A>G
|
rs111833764
|
|
|
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)
|
rs104894711
|
|
|
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)
|
rs1555841301
|
|
|
NM_001022.4(RPS19):c.185G>C (p.Arg62Pro)
|
rs1555841301
|
|
|
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
|
|
|
|
NM_001022.4(RPS19):c.257dup (p.Val87fs)
|
rs2074118749
|
|
|
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs)
|
rs1555841356
|
|
|
NM_001022.4(RPS19):c.347del (p.Asp116fs)
|
|
|
|
NM_001022.4(RPS19):c.357-2A>G
|
|
|
|
NM_001022.4(RPS19):c.384_385del (p.Asp130fs)
|
rs869066130
|
|
|
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
|
|
|
|
NM_001022.4(RPS19):c.3G>A (p.Met1Ile)
|
rs138938035
|
|
|
NM_001022.4(RPS19):c.3G>T (p.Met1Ile)
|
rs138938035
|
|
|
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)
|
rs144337183
|
|
|
NM_001022.4(RPS19):c.412-2A>G
|
|
|
|
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)
|
rs2074021310
|
|
|
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs)
|
rs2123256254
|
|
|
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)
|
|
|
|
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)
|
rs104894716
|
|
|
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)
|
rs2074026880
|
|
|
NM_001029.5(RPS26):c.196A>T (p.Lys66Ter)
|
rs1895918140
|
|
|
NM_001029.5(RPS26):c.1A>G (p.Met1Val)
|
rs143951267
|
|
|
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)
|
rs148942765
|
|
|
NM_001029.5(RPS26):c.2T>G (p.Met1Arg)
|
rs1895894261
|
|
|
NM_001029.5(RPS26):c.73_76del (p.Asn25fs)
|
rs2136753850
|
|
|
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)
|
|
|
|
NM_001029.5(RPS26):c.9_12del (p.Lys4fs)
|
rs2136753785
|
|
|
NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter)
|
rs147730705
|
|
|
NM_001081.4(CUBN):c.10311dup (p.His3438fs)
|
|
|
|
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)
|
rs201426128
|
|
|
NM_001081.4(CUBN):c.10520C>A (p.Ser3507Ter)
|
|
|
|
NM_001081.4(CUBN):c.10557_10558del (p.Gly3520fs)
|
|
|
|
NM_001081.4(CUBN):c.1892del (p.Thr631fs)
|
rs2131869439
|
|
|
NM_001081.4(CUBN):c.2191_2192del (p.Thr731fs)
|
rs2131863686
|
|
|
NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter)
|
rs776704427
|
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
|
NM_001081.4(CUBN):c.3138del (p.Ala1047fs)
|
|
|
|
NM_001081.4(CUBN):c.3578G>A (p.Trp1193Ter)
|
|
|
|
NM_001081.4(CUBN):c.382C>T (p.Gln128Ter)
|
rs374695194
|
|
|
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)
|
rs774493547
|
|
|
NM_001081.4(CUBN):c.424C>T (p.Gln142Ter)
|
rs765941616
|
|
|
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)
|
rs2131697094
|
|
|
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs)
|
rs1168074679
|
|
|
NM_001081.4(CUBN):c.5530C>T (p.Gln1844Ter)
|
rs1564435943
|
|
|
NM_001081.4(CUBN):c.5701G>T (p.Glu1901Ter)
|
|
|
|
NM_001081.4(CUBN):c.5856del (p.Lys1954fs)
|
|
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
|
NM_001081.4(CUBN):c.6118C>T (p.Arg2040Ter)
|
|
|
|
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)
|
|
|
|
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
|
NM_001081.4(CUBN):c.7013del (p.Gly2338fs)
|
rs1588646655
|
|
|
NM_001081.4(CUBN):c.7051G>T (p.Gly2351Ter)
|
rs2131458386
|
|
|
NM_001081.4(CUBN):c.7145_7146del (p.Asp2381_Phe2382insTer)
|
|
|
|
NM_001081.4(CUBN):c.7471dup (p.Thr2491fs)
|
|
|
|
NM_001081.4(CUBN):c.794dup (p.Asp265fs)
|
|
|
|
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter)
|
rs1554790861
|
|
|
NM_001081.4(CUBN):c.8049del (p.Lys2683fs)
|
|
|
|
NM_001081.4(CUBN):c.8126_8127del (p.Ala2708_Tyr2709insTer)
|
|
|
|
NM_001081.4(CUBN):c.8165del (p.Pro2722fs)
|
|
|
|
NM_001081.4(CUBN):c.8393G>A (p.Trp2798Ter)
|
rs1841332247
|
|
|
NM_001081.4(CUBN):c.8684_8687del (p.Ser2895fs)
|
rs2131400036
|
|
|
NM_001081.4(CUBN):c.9783del (p.Thr3261_Leu3262insTer)
|
|
|
|
NM_001082486.2(ACD):c.250_252del (p.Lys84del)
|
rs797045144
|
|
|
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1152dup (p.Leu385fs)
|
|
|
|
NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1202del (p.Gly401fs)
|
|
|
|
NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs)
|
|
|
|
NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter)
|
rs2151549770
|
|
|
NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
|
|
|
|
NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2151580463
|
|
|
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs)
|
rs2053682638
|
|
|
NM_001113378.2(FANCI):c.1816del (p.Tyr606fs)
|
|
|
|
NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs)
|
|
|
|
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)
|
|
|
|
NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs)
|
|
|
|
NM_001113378.2(FANCI):c.1986dup (p.Pro663fs)
|
|
|
|
NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2029del (p.Trp677fs)
|
rs2151724213
|
|
|
NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs)
|
|
|
|
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs)
|
rs1567165630
|
|
|
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
|
|
|
|
NM_001113378.2(FANCI):c.2340dup (p.Leu781fs)
|
|
|
|
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)
|
rs758062617
|
|
|
NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs)
|
rs2151740576
|
|
|
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
|
|
|
|
NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)
|
|
|
|
NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs)
|
rs745893292
|
|
|
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
|
|
|
|
NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs)
|
|
|
|
NM_001113378.2(FANCI):c.2838del (p.Asp946fs)
|
|
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
|
NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)
|
|
|
|
NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer)
|
|
|
|
NM_001113378.2(FANCI):c.2933del (p.Asn978fs)
|
|
|
|
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs)
|
|
|
|
NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs)
|
rs1596318782
|
|
|
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
|
|
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
|
NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
|
|
|
|
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)
|
|
|
|
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter)
|
rs2151924296
|
|
|
NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs)
|
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
|
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)
|
|
|
|
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
|
|
|
|
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs)
|
rs1567175626
|
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
|
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs)
|
rs1567179036
|
|
|
NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs)
|
|
|
|
NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs)
|
rs1596336945
|
|
|
NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs)
|
|
|
|
NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs)
|
|
|
|
NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter)
|
rs1060501900
|
|
|
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)
|
rs2152017390
|
|
|
NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)
|
|
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
|
NM_001113378.2(FANCI):c.474dup (p.Gln159fs)
|
|
|
|
NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)
|
|
|
|
NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)
|
|
|
|
NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter)
|
rs878854181
|
|
|
NM_001113378.2(FANCI):c.508del (p.Asp170fs)
|
|
|
|
NM_001113378.2(FANCI):c.509del (p.Asp170fs)
|
|
|
|
NM_001113378.2(FANCI):c.630dup (p.Pro211fs)
|
|
|
|
NM_001113378.2(FANCI):c.632del (p.Pro211fs)
|
|
|
|
NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)
|
|
|
|
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
|
|
|
|
NM_001113378.2(FANCI):c.834del (p.Ile279fs)
|
rs748961800
|
|
|
NM_001113378.2(FANCI):c.876_879del (p.His292fs)
|
rs2053066105
|
|
|
NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)
|
|
|
|
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)
|
rs754986558
|
|
|
NM_001113378.2(FANCI):c.912_916del (p.Asn304fs)
|
|
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
|
NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)
|
|
|
|
NM_001128227.3(GNE):c.55_62del (p.Glu18_Leu19insTer)
|
rs2133126724
|
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
|
NM_001128227.3(GNE):c.7del (p.Thr3fs)
|
rs1563966097
|
|
|
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs)
|
rs1554664095
|
|
|
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)
|
rs1554664090
|
|
|
NM_001164277.1(SLC37A4):c.529_533del
|
rs2089891548
|
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
|
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)
|
rs1943525176
|
|
|
NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs)
|
rs2134628172
|
|
|
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)
|
rs121908975
|
|
|
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+1G>C
|
rs782630676
|
|
|
NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)
|
rs2134626765
|
|
|
NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs)
|
rs2134644472
|
|
|
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
|
NM_001164277.2(SLC37A4):c.148+2T>C
|
rs1449998297
|
|
|
NM_001164277.2(SLC37A4):c.149-2A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)
|
rs782501672
|
|
|
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter)
|
rs374848317
|
|
|
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)
|
rs1555191604
|
|
|
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs)
|
rs2134639714
|
|
|
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)
|
rs782604758
|
|
|
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)
|
rs782604758
|
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
|
NM_001164277.2(SLC37A4):c.381+1G>A
|
rs786204637
|
|
|
NM_001164277.2(SLC37A4):c.381+1G>T
|
rs786204637
|
|
|
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)
|
rs2134638421
|
|
|
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)
|
rs1943618079
|
|
|
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter)
|
rs1233639372
|
|
|
NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp)
|
rs2134637643
|
|
|
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg)
|
rs193302893
|
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
|
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)
|
rs1474282972
|
|
|
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)
|
rs1943676862
|
|
|
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter)
|
rs996440530
|
|
|
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)
|
rs2134644045
|
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
|
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)
|
|
|
|
NM_001164277.2(SLC37A4):c.786-3_787del
|
rs2134633858
|
|
|
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs)
|
rs1592111172
|
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
|
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)
|
rs2134631619
|
|
|
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs)
|
rs1943557200
|
|
|
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs)
|
rs1943556915
|
|
|
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer)
|
rs1943554955
|
|
|
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)
|
rs2134631242
|
|
|
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)
|
rs1001301633
|
|
|
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)
|
|
|
|
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)
|
rs2151019295
|
|
|
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)
|
|
|
|
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
|
NM_001322934.2(NFKB2):c.2602_2605dup (p.Gly869fs)
|
rs2135443636
|
|
|
NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter)
|
rs2061279365
|
|
|
NM_001330540.2(MMACHC):c.-90del
|
|
|
|
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
|
|
|
|
NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs)
|
|
|
|
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
|
|
|
|
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
|
rs78365220
|
|
|
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)
|
rs782322505
|
|
|
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
|
|
|
|
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
|
|
|
|
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
|
|
|
|
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
|
|
|
NM_001364905.1(LRBA):c.1661_1662insGATA (p.Tyr554Ter)
|
|
|
|
NM_001364905.1(LRBA):c.1697del (p.Lys566fs)
|
rs2127154885
|
|
|
NM_001364905.1(LRBA):c.1736G>A (p.Trp579Ter)
|
rs2127154743
|
|
|
NM_001364905.1(LRBA):c.1931dup (p.Arg645fs)
|
rs745453685
|
|
|
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
|
|
|
|
NM_001364905.1(LRBA):c.1963C>T (p.Arg655Ter)
|
rs199750191
|
|
|
NM_001364905.1(LRBA):c.205_206del (p.Val69fs)
|
rs1745202896
|
|
|
NM_001364905.1(LRBA):c.2204_2205dup (p.Arg736fs)
|
|
|
|
NM_001364905.1(LRBA):c.2240T>A (p.Leu747Ter)
|
|
|
|
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
|
|
|
|
NM_001364905.1(LRBA):c.2559_2560del (p.Ser853fs)
|
|
|
|
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter)
|
rs1560938296
|
|
|
NM_001364905.1(LRBA):c.2614del (p.Ser872fs)
|
rs2126988253
|
|
|
NM_001364905.1(LRBA):c.2625T>A (p.Tyr875Ter)
|
|
|
|
NM_001364905.1(LRBA):c.2717G>A (p.Trp906Ter)
|
|
|
|
NM_001364905.1(LRBA):c.2722_2738del (p.Gly908fs)
|
|
|
|
NM_001364905.1(LRBA):c.2736G>A (p.Trp912Ter)
|
|
|
|
NM_001364905.1(LRBA):c.2836_2839del (p.Glu945_Glu946insTer)
|
rs777413769
|
|
|
NM_001364905.1(LRBA):c.2963del (p.Asn988fs)
|
rs1750760771
|
|
|
NM_001364905.1(LRBA):c.3048T>G (p.Tyr1016Ter)
|
|
|
|
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
|
rs1578999313
|
|
|
NM_001364905.1(LRBA):c.3156del (p.Asp1053fs)
|
|
|
|
NM_001364905.1(LRBA):c.3286_3287del (p.Phe1096fs)
|
rs1750723817
|
|
|
NM_001364905.1(LRBA):c.3461_3464del (p.Leu1154fs)
|
|
|
|
NM_001364905.1(LRBA):c.3487_3488del (p.Val1162_Thr1163insTer)
|
rs1750701604
|
|
|
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter)
|
rs1560914625
|
|
|
NM_001364905.1(LRBA):c.3830C>G (p.Ser1277Ter)
|
rs1319094744
|
|
|
NM_001364905.1(LRBA):c.3989_3990dup (p.Gln1331fs)
|
|
|
|
NM_001364905.1(LRBA):c.448+1G>T
|
rs1032290659
|
|
|
NM_001364905.1(LRBA):c.4750dup (p.Ser1584fs)
|
|
|
|
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter)
|
rs1484948342
|
|
|
NM_001364905.1(LRBA):c.488del (p.Asn163fs)
|
rs2149508349
|
|
|
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer)
|
rs1554020278
|
|
|
NM_001364905.1(LRBA):c.5024del (p.Asn1675fs)
|
|
|
|
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter)
|
rs199469662
|
|
|
NM_001364905.1(LRBA):c.5060_5067del (p.Asn1687fs)
|
rs2126810852
|
|
|
NM_001364905.1(LRBA):c.5125_5152dup (p.Gln1718delinsArgTer)
|
rs2126810458
|
|
|
NM_001364905.1(LRBA):c.5231dup (p.Pro1745fs)
|
|
|
|
NM_001364905.1(LRBA):c.5254del (p.Val1752fs)
|
|
|
|
NM_001364905.1(LRBA):c.5586G>A (p.Trp1862Ter)
|
|
|
|
NM_001364905.1(LRBA):c.5903G>A (p.Trp1968Ter)
|
|
|
|
NM_001364905.1(LRBA):c.6234_6238delinsTTTT (p.Ser2079fs)
|
rs1772348297
|
|
|
NM_001364905.1(LRBA):c.6235del (p.Ser2079fs)
|
rs1051619342
|
|
|
NM_001364905.1(LRBA):c.6269_6270delinsAA (p.Ser2090Ter)
|
rs2126438478
|
|
|
NM_001364905.1(LRBA):c.6319del (p.Ile2107fs)
|
rs34237929
|
|
|
NM_001364905.1(LRBA):c.6551+1del
|
rs1320366310
|
|
|
NM_001364905.1(LRBA):c.6909G>A (p.Trp2303Ter)
|
rs2151995373
|
|
|
NM_001364905.1(LRBA):c.6979C>T (p.Arg2327Ter)
|
|
|
|
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter)
|
rs1581303476
|
|
|
NM_001364905.1(LRBA):c.7282C>T (p.Arg2428Ter)
|
|
|
|
NM_001364905.1(LRBA):c.7405C>T (p.Gln2469Ter)
|
|
|
|
NM_001364905.1(LRBA):c.7928del (p.Asn2643fs)
|
rs2126848251
|
|
|
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser)
|
rs199469663
|
|
|
NM_001364905.1(LRBA):c.8205dup (p.Gln2736fs)
|
|
|
|
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)
|
rs1580875488
|
|
|
NM_001364905.1(LRBA):c.893del (p.Lys298fs)
|
rs2149489346
|
|
|
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
|
|
|
|
NM_001375808.2(LPIN2):c.1042_1045delinsGTA (p.Pro348fs)
|
rs2077310320
|
|
|
NM_001375808.2(LPIN2):c.1160_1163del (p.Lys387fs)
|
rs2144194297
|
|
|
NM_001375808.2(LPIN2):c.132_135dup (p.Ser46fs)
|
rs876660982
|
|
|
NM_001375808.2(LPIN2):c.1673G>A (p.Trp558Ter)
|
|
|
|
NM_001375808.2(LPIN2):c.1684C>T (p.Arg562Ter)
|
|
|
|
NM_001375808.2(LPIN2):c.1826dup (p.Ser610fs)
|
rs2144133348
|
|
|
NM_001375808.2(LPIN2):c.1843G>T (p.Glu615Ter)
|
rs2144133234
|
|
|
NM_001375808.2(LPIN2):c.1924_1928del (p.Ser642fs)
|
rs2077113045
|
|
|
NM_001375808.2(LPIN2):c.2125A>T (p.Lys709Ter)
|
|
|
|
NM_001375808.2(LPIN2):c.2342_2346del (p.Lys781fs)
|
rs762442011
|
|
|
NM_001375808.2(LPIN2):c.2495_2496dup (p.Asn833Ter)
|
rs2144112462
|
|
|
NM_001375808.2(LPIN2):c.469C>T (p.Arg157Ter)
|
rs916009547
|
|
|
NM_001375808.2(LPIN2):c.475A>T (p.Arg159Ter)
|
|
|
|
NM_001375808.2(LPIN2):c.689del (p.Pro230fs)
|
|
|
|
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter)
|
rs759667494
|
|
|
NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)
|
|
|
|
NM_001382567.1(STIM1):c.1189del (p.Ala397fs)
|
rs2133224258
|
|
|
NM_001382567.1(STIM1):c.1285C>T (p.Arg429Cys)
|
rs397514671
|
|
|
NM_001382567.1(STIM1):c.1452del (p.Ile484fs)
|
rs1565171115
|
|
|
NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)
|
|
|
|
NM_001382567.1(STIM1):c.163_164del (p.Leu55fs)
|
rs2135736277
|
|
|
NM_001382567.1(STIM1):c.326A>G (p.His109Arg)
|
rs397514677
|
|
|
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe)
|
rs527236030
|
|
|
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs)
|
rs1590688717
|
|
|
NM_001382567.1(STIM1):c.869_887del (p.Ile290fs)
|
rs751733169
|
|
|
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp)
|
rs483352867
|
|
|
NM_001754.4(RUNX1):c.352-1G>T
|
rs587776809
|
|
|
NM_001754.5(RUNX1):c.1203del (p.Ser402fs)
|
|
|
|
NM_001754.5(RUNX1):c.132dup (p.Thr45fs)
|
|
|
|
NM_001754.5(RUNX1):c.140_150del (p.Leu47fs)
|
rs2146413726
|
|
|
NM_001754.5(RUNX1):c.146del (p.Pro49fs)
|
|
|
|
NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs)
|
rs2146413580
|
|
|
NM_001754.5(RUNX1):c.166_193dup (p.Ala65fs)
|
rs1569084530
|
|
|
NM_001754.5(RUNX1):c.215_216dup (p.Ser73fs)
|
rs1555899813
|
|
|
NM_001754.5(RUNX1):c.228dup (p.Ser77fs)
|
|
|
|
NM_001754.5(RUNX1):c.247dup (p.Ala83fs)
|
rs2146410761
|
|
|
NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs)
|
rs2146410489
|
|
|
NM_001754.5(RUNX1):c.285del (p.Asn96fs)
|
|
|
|
NM_001754.5(RUNX1):c.289_299delinsCTCCTTCCGCTG (p.Phe97fs)
|
rs1601528701
|
|
|
NM_001754.5(RUNX1):c.292_334dup (p.Leu112fs)
|
|
|
|
NM_001754.5(RUNX1):c.292del (p.Leu98fs)
|
rs1569084170
|
|
|
NM_001754.5(RUNX1):c.318G>A (p.Trp106Ter)
|
|
|
|
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu)
|
rs121912498
|
|
|
NM_001754.5(RUNX1):c.330G>T (p.Lys110Asn)
|
rs1569084082
|
|
|
NM_001754.5(RUNX1):c.334del (p.Leu112fs)
|
rs2057997486
|
|
|
NM_001754.5(RUNX1):c.351+1G>A
|
rs1060502579
|
|
|
NM_001754.5(RUNX1):c.351+1G>C
|
rs1060502579
|
|
|
NM_001754.5(RUNX1):c.351+2T>A
|
rs2057997150
|
|
|
NM_001754.5(RUNX1):c.351+2T>C
|
|
|
|
NM_001754.5(RUNX1):c.356dup (p.Ala120fs)
|
|
|
|
NM_001754.5(RUNX1):c.385_395del (p.Leu129fs)
|
|
|
|
NM_001754.5(RUNX1):c.391_392insATCG (p.Thr131fs)
|
|
|
|
NM_001754.5(RUNX1):c.411dup (p.Glu138Ter)
|
|
|
|
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
|
|
|
|
NM_001754.5(RUNX1):c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142fs)
|
|
|
|
NM_001754.5(RUNX1):c.424del (p.Ala142fs)
|
|
|
|
NM_001754.5(RUNX1):c.458del (p.Asn153fs)
|
|
|
|
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)
|
rs1060499616
|
|
|
NM_001754.5(RUNX1):c.503del (p.Gly168fs)
|
rs2146360319
|
|
|
NM_001754.5(RUNX1):c.505dup (p.Arg169fs)
|
|
|
|
NM_001754.5(RUNX1):c.508+3del
|
rs587776810
|
|
|
NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs)
|
rs2146236515
|
|
|
NM_001754.5(RUNX1):c.528del (p.Ile177fs)
|
|
|
|
NM_001754.5(RUNX1):c.551_552insTACCACAGAGCCATCTGTG (p.Gln185fs)
|
|
|
|
NM_001754.5(RUNX1):c.585del (p.Thr196fs)
|
rs2146235121
|
|
|
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)
|
rs1057519748
|
|
|
NM_001754.5(RUNX1):c.601dup (p.Arg201fs)
|
rs2146234527
|
|
|
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln)
|
rs74315450
|
|
|
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)
|
rs1569061768
|
|
|
NM_001754.5(RUNX1):c.637del (p.Gln213fs)
|
rs2146076947
|
|
|
NM_001754.5(RUNX1):c.656_674del (p.Leu219fs)
|
|
|
|
NM_001754.5(RUNX1):c.664dup (p.Ser222fs)
|
rs2146076572
|
|
|
NM_001754.5(RUNX1):c.695_696del (p.Arg232fs)
|
|
|
|
NM_001754.5(RUNX1):c.696dup (p.Arg233fs)
|
|
|
|
NM_001754.5(RUNX1):c.713_726del (p.Val238fs)
|
rs2146075609
|
|
|
NM_001754.5(RUNX1):c.723_729dup (p.Ala244fs)
|
|
|
|
NM_001754.5(RUNX1):c.777dup (p.Asn260Ter)
|
rs2146074811
|
|
|
NM_001754.5(RUNX1):c.782dup (p.Gln262fs)
|
|
|
|
NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)
|
|
|
|
NM_001754.5(RUNX1):c.814C>T (p.Gln272Ter)
|
|
|
|
NM_001754.5(RUNX1):c.820C>T (p.Gln274Ter)
|
|
|
|
NM_001754.5(RUNX1):c.847C>T (p.Gln283Ter)
|
rs374341207
|
|
|
NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter)
|
rs121912499
|
|
|
NM_001754.5(RUNX1):c.891_904del (p.Pro298fs)
|
|
|
|
NM_001754.5(RUNX1):c.911dup (p.Gly305fs)
|
|
|
|
NM_001754.5(RUNX1):c.952dup (p.Ser318fs)
|
|
|
|
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter)
|
rs1569008655
|
|
|
NM_001754.5(RUNX1):c.967+2_967+5del
|
rs2056574456
|
|
|
NM_001783.4(CD79A):c.198G>A (p.Trp66Ter)
|
rs1568801716
|
|
|
NM_001805.4(CEBPE):c.12_18dup (p.Tyr7fs)
|
rs2140292375
|
|
|
NM_001805.4(CEBPE):c.201dup (p.Gly68fs)
|
rs2140292187
|
|
|
NM_001805.4(CEBPE):c.403C>T (p.Arg135Ter)
|
|
|
|
NM_001814.6(CTSC):c.-55C>A
|
|
|
|
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
|
|
|
|
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
|
|
|
|
NM_001814.6(CTSC):c.1096del (p.His366fs)
|
|
|
|
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
|
|
|
|
NM_001814.6(CTSC):c.1141del (p.Leu381fs)
|
rs772132996
|
|
|
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
|
|
|
|
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
|
|
|
|
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
|
|
|
|
NM_001814.6(CTSC):c.124del (p.Gln42fs)
|
|
|
|
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
|
|
|
|
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
|
|
|
|
NM_001814.6(CTSC):c.189dup (p.Val64fs)
|
|
|
|
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
|
|
|
|
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)
|
rs199474831
|
|
|
NM_001814.6(CTSC):c.21del (p.Leu7fs)
|
|
|
|
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
|
|
|
|
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
|
|
|
|
NM_001814.6(CTSC):c.319-1G>A
|
|
|
|
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
|
|
|
|
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
|
|
|
|
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
|
|
|
|
NM_001814.6(CTSC):c.407del (p.Cys136fs)
|
|
|
|
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
|
|
|
|
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
|
|
|
|
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
|
|
|
|
NM_001814.6(CTSC):c.436del (p.Ser146fs)
|
|
|
|
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
|
|
|
|
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
|
|
|
|
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
|
|
|
|
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
|
|
|
|
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
|
|
|
|
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
|
|
|
|
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
|
|
|
|
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
|
|
|
|
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
|
|
|
|
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
|
|
|
|
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
|
|
|
|
NM_001814.6(CTSC):c.706del (p.Asp236fs)
|
|
|
|
NM_001814.6(CTSC):c.725del (p.Gly242fs)
|
|
|
|
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
|
|
|
|
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
|
|
|
|
NM_001814.6(CTSC):c.783del (p.Phe261fs)
|
|
|
|
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)
|
rs587777534
|
|
|
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
|
|
|
|
NM_001814.6(CTSC):c.857del (p.Gln286fs)
|
|
|
|
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
|
|
|
|
NM_001814.6(CTSC):c.889+1G>A
|
|
|
|
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
|
|
|
|
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
|
|
|
|
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
|
|
|
|
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
|
|
|
|
NM_001972.4(ELANE):c.129C>G (p.Phe43Leu)
|
|
|
|
NM_001972.4(ELANE):c.137C>T (p.Ser46Phe)
|
rs878855320
|
|
|
NM_001972.4(ELANE):c.140T>C (p.Leu47Pro)
|
rs878855319
|
|
|
NM_001972.4(ELANE):c.164G>A (p.Cys55Tyr)
|
|
|
|
NM_001972.4(ELANE):c.182C>T (p.Ala61Val)
|
rs137854447
|
|
|
NM_001972.4(ELANE):c.1A>G (p.Met1Val)
|
rs2145142832
|
|
|
NM_001972.4(ELANE):c.242G>C (p.Arg81Pro)
|
rs762470485
|
|
|
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro)
|
rs1064793108
|
|
|
NM_001972.4(ELANE):c.253G>A (p.Gly85Arg)
|
rs1405536870
|
|
|
NM_001972.4(ELANE):c.301G>A (p.Val101Met)
|
rs137854449
|
|
|
NM_001972.4(ELANE):c.308G>C (p.Arg103Pro)
|
rs745455816
|
|
|
NM_001972.4(ELANE):c.367-8C>A
|
rs200752339
|
|
|
NM_001972.4(ELANE):c.377C>G (p.Ser126Trp)
|
rs137854450
|
|
|
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)
|
rs137854450
|
|
|
NM_001972.4(ELANE):c.416C>G (p.Pro139Arg)
|
|
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
|
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr)
|
rs57246956
|
|
|
NM_001972.4(ELANE):c.461T>G (p.Met154Arg)
|
rs1429051935
|
|
|
NM_001972.4(ELANE):c.538del (p.Leu180fs)
|
|
|
|
NM_001972.4(ELANE):c.597+1G>A
|
rs1555710005
|
|
|
NM_001972.4(ELANE):c.597+1G>C
|
rs1555710005
|
|
|
NM_001972.4(ELANE):c.597+5G>A
|
rs879253882
|
|
|
NM_001972.4(ELANE):c.597+5G>T
|
rs879253882
|
|
|
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg)
|
rs201139487
|
|
|
NM_001972.4(ELANE):c.639del (p.His213fs)
|
|
|
|
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)
|
rs137854451
|
|
|
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter)
|
rs1599294750
|
|
|
NM_001972.4(ELANE):c.687del (p.Asp230fs)
|
rs2145149748
|
|
|
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter)
|
rs2035677025
|
|
|
NM_001972.4(ELANE):c.723G>A (p.Trp241Ter)
|
rs2145149815
|
|
|
NM_002049.4(GATA1):c.-4_21del (p.Met1fs)
|
|
|
|
NM_002049.4(GATA1):c.105dup (p.Ser36fs)
|
rs1273620943
|
|
|
NM_002049.4(GATA1):c.122_165del (p.Leu41fs)
|
|
|
|
NM_002049.4(GATA1):c.125_146del (p.Asp42fs)
|
|
|
|
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)
|
rs398124628
|
|
|
NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)
|
|
|
|
NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs)
|
rs2147305695
|
|
|
NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)
|
|
|
|
NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs)
|
rs1602219139
|
|
|
NM_002049.4(GATA1):c.169_170insTG (p.Ala57fs)
|
|
|
|
NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs)
|
rs2147305721
|
|
|
NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)
|
|
|
|
NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)
|
|
|
|
NM_002049.4(GATA1):c.192_196del (p.Arg64fs)
|
rs2147305736
|
|
|
NM_002049.4(GATA1):c.194_206del (p.Asp65fs)
|
|
|
|
NM_002049.4(GATA1):c.21del (p.Ser8fs)
|
rs1557020001
|
|
|
NM_002049.4(GATA1):c.220+1G>T
|
|
|
|
NM_002049.4(GATA1):c.220+1del
|
rs587776453
|
|
|
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)
|
rs587776452
|
|
|
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)
|
rs2147306077
|
|
|
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)
|
rs587776451
|
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
|
NM_002049.4(GATA1):c.3G>T (p.Met1Ile)
|
rs2147305526
|
|
|
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)
|
rs2062673523
|
|
|
NM_002049.4(GATA1):c.5_8dup (p.Phe3fs)
|
rs1602218917
|
|
|
NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)
|
|
|
|
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)
|
rs1557020021
|
|
|
NM_002049.4(GATA1):c.90_91del (p.Val32fs)
|
rs2147305615
|
|
|
NM_002049.4(GATA1):c.94dup (p.Val32fs)
|
rs1569499310
|
|
|
NM_002049.4(GATA1):c.98dup (p.Phe34fs)
|
rs2062673787
|
|
|
NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)
|
|
|
|
NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs)
|
rs2126745614
|
|
|
NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs)
|
rs2126745648
|
|
|
NM_002454.3(MTRR):c.109dup (p.Cys37fs)
|
rs1747853230
|
|
|
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter)
|
rs772547714
|
|
|
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
|
|
|
|
NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter)
|
rs1737110583
|
|
|
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs)
|
rs1561245416
|
|
|
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs)
|
rs1579758005
|
|
|
NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)
|
|
|
|
NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs)
|
rs2126772123
|
|
|
NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)
|
|
|
|
NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)
|
|
|
|
NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter)
|
rs1440404360
|
|
|
NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)
|
|
|
|
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
|
|
|
|
NM_002454.3(MTRR):c.1394dup (p.Leu466fs)
|
|
|
|
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
|
|
|
|
NM_002454.3(MTRR):c.1441dup (p.Thr481fs)
|
|
|
|
NM_002454.3(MTRR):c.1474del (p.Trp492fs)
|
|
|
|
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
|
|
|
|
NM_002454.3(MTRR):c.1476del (p.Trp492fs)
|
rs2126793645
|
|
|
NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter)
|
rs1737852706
|
|
|
NM_002454.3(MTRR):c.1612dup (p.Ile538fs)
|
rs757800887
|
|
|
NM_002454.3(MTRR):c.1631del (p.Gly544fs)
|
|
|
|
NM_002454.3(MTRR):c.1643del (p.Gly548fs)
|
|
|
|
NM_002454.3(MTRR):c.1652dup (p.Phe552fs)
|
rs2126808162
|
|
|
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)
|
rs768980918
|
|
|
NM_002454.3(MTRR):c.1728del (p.Leu576fs)
|
rs2126812977
|
|
|
NM_002454.3(MTRR):c.227del (p.Ile76fs)
|
|
|
|
NM_002454.3(MTRR):c.228dup (p.Gln77fs)
|
rs2126663415
|
|
|
NM_002454.3(MTRR):c.263del (p.His88fs)
|
|
|
|
NM_002454.3(MTRR):c.270del (p.Tyr91fs)
|
rs1579619636
|
|
|
NM_002454.3(MTRR):c.290del (p.Gly97fs)
|
|
|
|
NM_002454.3(MTRR):c.324del (p.Lys109fs)
|
rs1189298981
|
|
|
NM_002454.3(MTRR):c.340del (p.Arg114fs)
|
rs2126675629
|
|
|
NM_002454.3(MTRR):c.354_358del (p.Gly119fs)
|
rs2126675707
|
|
|
NM_002454.3(MTRR):c.397_398del (p.Val133fs)
|
|
|
|
NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)
|
|
|
|
NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)
|
|
|
|
NM_002454.3(MTRR):c.495dup (p.Ala166fs)
|
|
|
|
NM_002454.3(MTRR):c.645_648del (p.Gln216fs)
|
|
|
|
NM_002454.3(MTRR):c.718_719del (p.Leu240fs)
|
rs1207820860
|
|
|
NM_002454.3(MTRR):c.734del (p.Leu245fs)
|
rs1734927527
|
|
|
NM_002454.3(MTRR):c.740del (p.Pro247fs)
|
rs752858024
|
|
|
NM_002454.3(MTRR):c.741del (p.Glu248fs)
|
rs1734931275
|
|
|
NM_002454.3(MTRR):c.754del (p.Val252fs)
|
|
|
|
NM_002454.3(MTRR):c.815del (p.Pro272fs)
|
rs2126727585
|
|
|
NM_002454.3(MTRR):c.861dup (p.Asp288Ter)
|
|
|
|
NM_002454.3(MTRR):c.901del (p.Ser301fs)
|
|
|
|
NM_002454.3(MTRR):c.908_909del (p.Thr303fs)
|
|
|
|
NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)
|
|
|
|
NM_002454.3(MTRR):c.930_934del (p.Asp311fs)
|
|
|
|
NM_002872.5(RAC2):c.169G>A (p.Asp57Asn)
|
rs74315507
|
|
|
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)
|
rs1555908409
|
|
|
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)
|
rs104893624
|
|
|
NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter)
|
rs2104915575
|
|
|
NM_003467.3(CXCR4):c.1014del (p.Ser339fs)
|
rs2104915548
|
|
|
NM_003467.3(CXCR4):c.1025_1026del (p.Thr342fs)
|
rs2104915518
|
|
|
NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer)
|
rs2104915487
|
|
|
NM_003467.3(CXCR4):c.956_957del (p.Ser319fs)
|
rs1684841455
|
|
|
NM_003467.3(CXCR4):c.959_960del (p.Val320fs)
|
rs2104915680
|
|
|
NM_003467.3(CXCR4):c.963dup (p.Arg322fs)
|
rs2104915668
|
|
|
NM_003467.3(CXCR4):c.969dup (p.Ser324fs)
|
rs1684840786
|
|
|
NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter)
|
rs1240625960
|
|
|
NM_003664.4(AP3B1):c.1839_1842delTAGA
|
|
|
|
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs)
|
rs1744118616
|
|
|
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
|
|
|
|
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
|
|
|
|
NM_003664.5(AP3B1):c.1408del (p.Gln470fs)
|
|
|
|
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter)
|
rs121908906
|
|
|
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs)
|
rs1753129765
|
|
|
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
|
|
|
|
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
|
|
|
|
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
|
|
|
|
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
|
|
|
|
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs)
|
rs2112518616
|
|
|
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
|
|
|
|
NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)
|
|
|
|
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs)
|
rs2112100310
|
|
|
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
|
|
|
|
NM_003664.5(AP3B1):c.2738del (p.Lys913fs)
|
rs2112100217
|
|
|
NM_003664.5(AP3B1):c.2757del (p.Ile919fs)
|
rs2112100189
|
|
|
NM_003664.5(AP3B1):c.2801del (p.Asn934fs)
|
rs2112100020
|
|
|
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
|
|
|
|
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
|
|
|
|
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
|
|
|
|
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter)
|
rs1745947620
|
|
|
NM_004364.5(CEBPA):c.125del (p.Pro42fs)
|
rs2145264339
|
|
|
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter)
|
rs1967195832
|
|
|
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter)
|
rs1210600080
|
|
|
NM_004364.5(CEBPA):c.179dup (p.Ser61fs)
|
|
|
|
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs)
|
rs1060502121
|
|
|
NM_004364.5(CEBPA):c.195_198delinsACG (p.Ser65fs)
|
rs1600023950
|
|
|
NM_004364.5(CEBPA):c.206del (p.Asp69fs)
|
rs1967194243
|
|
|
NM_004364.5(CEBPA):c.320del (p.Asp107fs)
|
rs1600023511
|
|
|
NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)
|
|
|
|
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter)
|
rs1555742221
|
|
|
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)
|
rs1388478228
|
|
|
NM_004364.5(CEBPA):c.60dup (p.Ser21fs)
|
rs2145264820
|
|
|
NM_004364.5(CEBPA):c.69del (p.His24fs)
|
rs2145264731
|
|
|
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)
|
rs397507560
|
|
|
NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter)
|
rs2131055405
|
|
|
NM_004629.2(FANCG):c.1008dup (p.Pro337fs)
|
rs1829086026
|
|
|
NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter)
|
rs2131055360
|
|
|
NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter)
|
rs745928033
|
|
|
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)
|
rs121434426
|
|
|
NM_004629.2(FANCG):c.1091del (p.Ala364fs)
|
|
|
|
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)
|
rs1326382443
|
|
|
NM_004629.2(FANCG):c.1144-1G>A
|
|
|
|
NM_004629.2(FANCG):c.1144-2A>G
|
|
|
|
NM_004629.2(FANCG):c.1158del (p.Ser387fs)
|
rs757418016
|
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
|
NM_004629.2(FANCG):c.1167_1168del (p.Gly390fs)
|
|
|
|
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs)
|
rs397507559
|
|
|
NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter)
|
rs748730134
|
|
|
NM_004629.2(FANCG):c.1216del (p.Gln406fs)
|
rs758423821
|
|
|
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
|
|
|
|
NM_004629.2(FANCG):c.1246_1247del (p.Leu416fs)
|
rs2131054083
|
|
|
NM_004629.2(FANCG):c.1248_1249del (p.Leu416_Cys417insTer)
|
|
|
|
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter)
|
rs886063896
|
|
|
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs)
|
rs2131053943
|
|
|
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
|
|
|
|
NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)
|
|
|
|
NM_004629.2(FANCG):c.1428del (p.Phe476fs)
|
|
|
|
NM_004629.2(FANCG):c.1472_1473del (p.Lys491fs)
|
|
|
|
NM_004629.2(FANCG):c.1473del (p.Glu492fs)
|
|
|
|
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
|
|
|
|
NM_004629.2(FANCG):c.1483del
|
rs760738460
|
|
|
NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)
|
|
|
|
NM_004629.2(FANCG):c.156dup (p.Leu53fs)
|
rs863224506
|
|
|
NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter)
|
rs1461242610
|
|
|
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer)
|
rs753485145
|
|
|
NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter)
|
rs1157985962
|
|
|
NM_004629.2(FANCG):c.1593del (p.Ala533fs)
|
rs761519737
|
|
|
NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)
|
|
|
|
NM_004629.2(FANCG):c.1604dup (p.Asp536fs)
|
|
|
|
NM_004629.2(FANCG):c.161dup (p.His55fs)
|
rs886063898
|
|
|
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)
|
rs770263417
|
|
|
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter)
|
rs2131051951
|
|
|
NM_004629.2(FANCG):c.1653del (p.His553fs)
|
|
|
|
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)
|
rs1829041127
|
|
|
NM_004629.2(FANCG):c.182del (p.Pro61fs)
|
|
|
|
NM_004629.2(FANCG):c.214_217del (p.Thr72fs)
|
rs747660501
|
|
|
NM_004629.2(FANCG):c.21dup (p.Val8fs)
|
|
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
|
NM_004629.2(FANCG):c.319_320del (p.Gln107fs)
|
|
|
|
NM_004629.2(FANCG):c.336del (p.Arg113fs)
|
rs2131058595
|
|
|
NM_004629.2(FANCG):c.365G>A (p.Trp122Ter)
|
rs2131058553
|
|
|
NM_004629.2(FANCG):c.380_386dup (p.Leu131fs)
|
|
|
|
NM_004629.2(FANCG):c.395dup (p.Pro133fs)
|
rs2131058481
|
|
|
NM_004629.2(FANCG):c.552dup (p.Ser185fs)
|
rs1412207017
|
|
|
NM_004629.2(FANCG):c.560del (p.Pro187fs)
|
rs2131057213
|
|
|
NM_004629.2(FANCG):c.565G>T (p.Glu189Ter)
|
rs1829104194
|
|
|
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)
|
rs755361015
|
|
|
NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)
|
|
|
|
NM_004629.2(FANCG):c.604G>T (p.Gly202Ter)
|
rs1449918930
|
|
|
NM_004629.2(FANCG):c.620del (p.Leu207fs)
|
rs753727461
|
|
|
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)
|
rs587776640
|
|
|
NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)
|
|
|
|
NM_004629.2(FANCG):c.684del (p.Ala228_Leu229insTer)
|
|
|
|
NM_004629.2(FANCG):c.689del (p.Ser230fs)
|
rs2131056614
|
|
|
NM_004629.2(FANCG):c.692del (p.Ser231fs)
|
|
|
|
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
|
|
|
|
NM_004629.2(FANCG):c.713dup (p.Leu239fs)
|
rs2131056549
|
|
|
NM_004629.2(FANCG):c.76C>T (p.Gln26Ter)
|
rs2131060266
|
|
|
NM_004629.2(FANCG):c.787_788del (p.Gln263fs)
|
|
|
|
NM_004629.2(FANCG):c.824_825del (p.Glu275fs)
|
rs867467817
|
|
|
NM_004629.2(FANCG):c.825_828del (p.Glu275fs)
|
|
|
|
NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)
|
|
|
|
NM_004629.2(FANCG):c.883dup (p.Asp295fs)
|
rs1829092483
|
|
|
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
|
|
|
|
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)
|
rs1563986439
|
|
|
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
|
|
|
|
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
|
|
|
|
NM_004629.2(FANCG):c.941del (p.Cys314fs)
|
|
|
|
NM_004629.2(FANCG):c.981dup (p.Leu328fs)
|
rs2131055463
|
|
|
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys)
|
rs28730670
|
|
|
NM_005026.5(PIK3CD):c.1570T>A (p.Tyr524Asn)
|
rs2100954909
|
|
|
NM_005026.5(PIK3CD):c.1571A>C (p.Tyr524Ser)
|
rs2100954945
|
|
|
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)
|
rs587777389
|
|
|
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)
|
rs1557669079
|
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
|
NM_005026.5(PIK3CD):c.3074A>G (p.Glu1025Gly)
|
rs1064795762
|
|
|
NM_005050.4(ABCD4):c.1125del (p.Trp377fs)
|
rs1440898011
|
|
|
NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)
|
|
|
|
NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)
|
|
|
|
NM_005050.4(ABCD4):c.1294del (p.Arg432fs)
|
rs1435760575
|
|
|
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)
|
|
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
|
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)
|
|
|
|
NM_005050.4(ABCD4):c.373del (p.Arg125fs)
|
|
|
|
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)
|
|
|
|
NM_005050.4(ABCD4):c.7dup (p.Val3fs)
|
|
|
|
NM_005142.3(CBLIF):c.183_186del (p.Met61fs)
|
rs765896727
|
|
|
NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter)
|
|
|
|
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)
|
rs779091652
|
|
|
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
|
|
|
|
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
|
|
|
|
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
|
|
|
|
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
|
|
|
|
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer)
|
rs1555468482
|
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
|
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
|
rs772899497
|
|
|
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
|
rs774510191
|
|
|
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs)
|
rs1419167361
|
|
|
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)
|
rs1355878901
|
|
|
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
|
|
|
|
NM_005236.3(ERCC4):c.68del (p.Val23fs)
|
|
|
|
NM_005236.3(ERCC4):c.793-2A>G
|
rs2032155264
|
|
|
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
|
|
|
|
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
|
|
|
|
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
|
|
|
|
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
|
|
|
|
NM_005236.3(ERCC4):c.915del (p.Asn308fs)
|
rs772432152
|
|
|
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
|
|
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
|
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)
|
|
|
|
NM_005373.3(MPL):c.1025del (p.Pro342fs)
|
rs1286303912
|
|
|
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
|
|
|
|
NM_005373.3(MPL):c.1145del (p.Pro382fs)
|
|
|
|
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter)
|
rs1570470199
|
|
|
NM_005373.3(MPL):c.11G>A (p.Trp4Ter)
|
|
|
|
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter)
|
rs2153918764
|
|
|
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)
|
|
|
|
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)
|
rs1647059649
|
|
|
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter)
|
rs2153918792
|
|
|
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs)
|
rs2153918800
|
|
|
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)
|
rs1647060064
|
|
|
NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer)
|
rs2153918831
|
|
|
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
|
rs1292577132
|
|
|
NM_005373.3(MPL):c.1320del (p.Pro441fs)
|
|
|
|
NM_005373.3(MPL):c.1346dup (p.Glu450fs)
|
rs2153919240
|
|
|
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)
|
rs1647073222
|
|
|
NM_005373.3(MPL):c.1368_1369del (p.Tyr457fs)
|
|
|
|
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter)
|
rs1469739934
|
|
|
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)
|
|
|
|
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter)
|
rs1302209849
|
|
|
NM_005373.3(MPL):c.1463_1466dup (p.Ala490fs)
|
rs2153919318
|
|
|
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs)
|
rs1647077635
|
|
|
NM_005373.3(MPL):c.1489_1490del (p.Ala497fs)
|
rs2153919403
|
|
|
NM_005373.3(MPL):c.1523dup (p.Leu510fs)
|
|
|
|
NM_005373.3(MPL):c.1532_1535del (p.Leu511fs)
|
rs1332801952
|
|
|
NM_005373.3(MPL):c.1546C>T (p.Gln516Ter)
|
rs2153919438
|
|
|
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter)
|
rs1392072769
|
|
|
NM_005373.3(MPL):c.1653+1del
|
rs755257605
|
|
|
NM_005373.3(MPL):c.1671dup (p.Asp558fs)
|
rs1647100516
|
|
|
NM_005373.3(MPL):c.1678del (p.Cys560fs)
|
|
|
|
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)
|
|
|
|
NM_005373.3(MPL):c.1725dup (p.Glu576fs)
|
|
|
|
NM_005373.3(MPL):c.1745del (p.Leu582fs)
|
|
|
|
NM_005373.3(MPL):c.1748_1749del (p.Cys583fs)
|
|
|
|
NM_005373.3(MPL):c.1810dup (p.Leu604fs)
|
|
|
|
NM_005373.3(MPL):c.1814_1817del (p.Ser605fs)
|
rs1402847914
|
|
|
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
|
rs1373623383
|
|
|
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter)
|
rs1373623383
|
|
|
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)
|
rs121913612
|
|
|
NM_005373.3(MPL):c.190C>T (p.Gln64Ter)
|
rs2153916273
|
|
|
NM_005373.3(MPL):c.209del (p.Pro70fs)
|
|
|
|
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)
|
rs1406715863
|
|
|
NM_005373.3(MPL):c.236del (p.Leu79fs)
|
|
|
|
NM_005373.3(MPL):c.252del (p.Met84fs)
|
rs2153916450
|
|
|
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)
|
rs763144679
|
|
|
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)
|
rs759361904
|
|
|
NM_005373.3(MPL):c.278_285dup (p.Pro96fs)
|
|
|
|
NM_005373.3(MPL):c.308del (p.Leu103fs)
|
rs1361003749
|
|
|
NM_005373.3(MPL):c.311del (p.Phe104fs)
|
rs2153916495
|
|
|
NM_005373.3(MPL):c.313_316del (p.Phe105fs)
|
rs2153916498
|
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
|
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
|
rs1443655691
|
|
|
NM_005373.3(MPL):c.378del (p.Phe126fs)
|
rs587778515
|
|
|
NM_005373.3(MPL):c.388_389del (p.Val130fs)
|
|
|
|
NM_005373.3(MPL):c.407C>T (p.Pro136Leu)
|
|
|
|
NM_005373.3(MPL):c.413del (p.Ile138fs)
|
rs1343123940
|
|
|
NM_005373.3(MPL):c.417dup (p.Lys140fs)
|
|
|
|
NM_005373.3(MPL):c.432dup (p.Ser145fs)
|
|
|
|
NM_005373.3(MPL):c.455del (p.Ile152fs)
|
rs1647014461
|
|
|
NM_005373.3(MPL):c.478G>T (p.Glu160Ter)
|
rs768536266
|
|
|
NM_005373.3(MPL):c.582C>A (p.Cys194Ter)
|
|
|
|
NM_005373.3(MPL):c.603_606del (p.His201fs)
|
rs1438181248
|
|
|
NM_005373.3(MPL):c.655dup (p.Gln219fs)
|
rs1647016174
|
|
|
NM_005373.3(MPL):c.709G>T (p.Glu237Ter)
|
|
|
|
NM_005373.3(MPL):c.744_747dup (p.Asn250fs)
|
rs587778518
|
|
|
NM_005373.3(MPL):c.793del (p.Leu265fs)
|
rs1647020172
|
|
|
NM_005373.3(MPL):c.807G>A (p.Trp269Ter)
|
rs1647020318
|
|
|
NM_005373.3(MPL):c.840del (p.Pro281fs)
|
|
|
|
NM_005373.3(MPL):c.842del (p.Pro281fs)
|
rs2153917100
|
|
|
NM_005373.3(MPL):c.873C>A (p.Cys291Ter)
|
|
|
|
NM_005373.3(MPL):c.89T>A (p.Leu30Ter)
|
|
|
|
NM_005373.3(MPL):c.916C>T (p.Gln306Ter)
|
|
|
|
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)
|
|
|
|
NM_005373.3(MPL):c.94del (p.Ala32fs)
|
rs2153916214
|
|
|
NM_005373.3(MPL):c.972_973del (p.Asp326fs)
|
rs2153917276
|
|
|
NM_005373.3(MPL):c.972del (p.Arg325fs)
|
rs770457041
|
|
|
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter)
|
rs983424324
|
|
|
NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs)
|
rs1829026390
|
|
|
NM_005476.7(GNE):c.1048C>T (p.Gln350Ter)
|
rs1276168825
|
|
|
NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)
|
|
|
|
NM_005476.7(GNE):c.1112del (p.Ile370_Leu371insTer)
|
rs2133042191
|
|
|
NM_005476.7(GNE):c.1139_1140insTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAATACCTTTTTGAAAAAGTCATGGAGGCCATGGGGTTGGCTTGAAACCAGCTTTGGGGGGTTCGATTCCTTCCTTTTTTGTCTAGATTTTATGTATACGGGTTCTTCGAATGTGTGGTTCA (p.Gln380delinsHisSerLeuTer)
|
|
|
|
NM_005476.7(GNE):c.1220dup (p.Ser408fs)
|
rs2133041569
|
|
|
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)
|
rs786204558
|
|
|
NM_005476.7(GNE):c.1417del (p.Ser473fs)
|
rs1057516965
|
|
|
NM_005476.7(GNE):c.1468A>T (p.Lys490Ter)
|
rs1554658955
|
|
|
NM_005476.7(GNE):c.1501_1529del (p.Arg501fs)
|
rs1554658924
|
|
|
NM_005476.7(GNE):c.1510dup (p.Leu504fs)
|
rs1828669338
|
|
|
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
|
|
|
|
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
|
|
|
|
NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer)
|
rs1828665576
|
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
|
NM_005476.7(GNE):c.1643del (p.Gly548fs)
|
rs2133007268
|
|
|
NM_005476.7(GNE):c.1686del (p.Cys563fs)
|
rs886044449
|
|
|
NM_005476.7(GNE):c.1690del (p.Ala564fs)
|
rs2133007032
|
|
|
NM_005476.7(GNE):c.1740del (p.Cys581fs)
|
rs1554658453
|
|
|
NM_005476.7(GNE):c.174_177dup (p.Met60fs)
|
rs2133114222
|
|
|
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)
|
rs111302956
|
|
|
NM_005476.7(GNE):c.1789C>T (p.Gln597Ter)
|
rs2133006228
|
|
|
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs)
|
rs1436850036
|
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
|
NM_005476.7(GNE):c.1816+5G>A
|
rs2133005844
|
|
|
NM_005476.7(GNE):c.182_185del (p.Ile61fs)
|
|
|
|
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)
|
rs886042195
|
|
|
NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer)
|
|
|
|
NM_005476.7(GNE):c.1933+1G>C
|
|
|
|
NM_005476.7(GNE):c.1973del (p.His658fs)
|
|
|
|
NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)
|
|
|
|
NM_005476.7(GNE):c.2005_2011del (p.Gly669fs)
|
rs2132993345
|
|
|
NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)
|
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
|
NM_005476.7(GNE):c.2135del (p.Met712fs)
|
|
|
|
NM_005476.7(GNE):c.221_222del (p.Thr74fs)
|
rs2133113896
|
|
|
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)
|
rs766420673
|
|
|
NM_005476.7(GNE):c.31C>T (p.Arg11Trp)
|
rs769716748
|
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
|
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)
|
rs748704459
|
|
|
NM_005476.7(GNE):c.388del (p.Ile130fs)
|
rs1423445315
|
|
|
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
|
rs1209266607
|
|
|
NM_005476.7(GNE):c.397_398dup (p.Glu134fs)
|
rs1829869628
|
|
|
NM_005476.7(GNE):c.454_616+70delinsTAG
|
rs2133111012
|
|
|
NM_005476.7(GNE):c.470_471del (p.His157fs)
|
rs1554663368
|
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
|
|
NM_005476.7(GNE):c.540_553del (p.Leu180fs)
|
|
|
|
NM_005476.7(GNE):c.556T>C (p.Tyr186His)
|
|
|
|
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)
|
rs1830025657
|
|
|
NM_005476.7(GNE):c.601_604dup (p.Arg202fs)
|
rs886042120
|
|
|
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del)
|
rs1554661574
|
|
|
NM_005476.7(GNE):c.636dup (p.Asp213fs)
|
rs1057517094
|
|
|
NM_005476.7(GNE):c.655C>T (p.Gln219Ter)
|
rs1057516906
|
|
|
NM_005476.7(GNE):c.680dup (p.His228fs)
|
rs1554661552
|
|
|
NM_005476.7(GNE):c.694del (p.Met232fs)
|
rs1554661549
|
|
|
NM_005476.7(GNE):c.711G>A (p.Leu237=)
|
rs724159957
|
|
|
NM_005476.7(GNE):c.712del (p.Asp238fs)
|
|
|
|
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer)
|
rs2133078032
|
|
|
NM_005476.7(GNE):c.769+4A>G
|
rs886063926
|
|
|
NM_005476.7(GNE):c.787C>T (p.Arg263Ter)
|
rs200643106
|
|
|
NM_005476.7(GNE):c.797G>A (p.Arg266Gln)
|
rs121908622
|
|
|
NM_005476.7(GNE):c.798del (p.Lys267fs)
|
|
|
|
NM_005476.7(GNE):c.79C>T (p.Pro27Ser)
|
rs1554664064
|
|
|
NM_005476.7(GNE):c.856C>T (p.Gln286Ter)
|
rs1057516746
|
|
|
NM_005476.7(GNE):c.865C>T (p.Gln289Ter)
|
|
|
|
NM_005476.7(GNE):c.869T>A (p.Leu290Ter)
|
|
|
|
NM_005476.7(GNE):c.952_953del (p.Leu318fs)
|
rs2133068002
|
|
|
NM_005476.7(GNE):c.997dup (p.His333fs)
|
rs2133049724
|
|
|
NM_006118.4(HAX1):c.103_106del (p.Glu35fs)
|
|
|
|
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)
|
|
|
|
NM_006118.4(HAX1):c.125dup (p.Ser43fs)
|
rs745666437
|
|
|
NM_006118.4(HAX1):c.146del (p.Pro49fs)
|
rs2149139668
|
|
|
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)
|
|
|
|
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)
|
|
|
|
NM_006118.4(HAX1):c.166del (p.His56fs)
|
rs2149139706
|
|
|
NM_006118.4(HAX1):c.16del (p.Leu6fs)
|
|
|
|
NM_006118.4(HAX1):c.173del (p.Pro58fs)
|
|
|
|
NM_006118.4(HAX1):c.214_217dup (p.Ile73fs)
|
rs2149139793
|
|
|
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)
|
|
|
|
NM_006118.4(HAX1):c.235_236del (p.Phe79fs)
|
rs2149139817
|
|
|
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)
|
|
|
|
NM_006118.4(HAX1):c.349G>T (p.Glu117Ter)
|
rs1487742962
|
|
|
NM_006118.4(HAX1):c.368_381del (p.Gln123fs)
|
rs1425877227
|
|
|
NM_006118.4(HAX1):c.430dup (p.Val144fs)
|
rs770288337
|
|
|
NM_006118.4(HAX1):c.432del (p.Leu145fs)
|
|
|
|
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)
|
|
|
|
NM_006118.4(HAX1):c.480G>A (p.Trp160Ter)
|
rs1392118289
|
|
|
NM_006118.4(HAX1):c.487C>T (p.Gln163Ter)
|
rs2149140056
|
|
|
NM_006118.4(HAX1):c.505-1G>C
|
|
|
|
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)
|
|
|
|
NM_006118.4(HAX1):c.556+1del
|
rs2149140495
|
|
|
NM_006118.4(HAX1):c.58dup (p.Arg20fs)
|
rs2149139493
|
|
|
NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)
|
|
|
|
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
|
|
|
|
NM_006363.6(SEC23B):c.1079del (p.Leu360fs)
|
rs1600244935
|
|
|
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
|
|
|
|
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)
|
rs1403456625
|
|
|
NM_006363.6(SEC23B):c.1243del (p.Glu415fs)
|
|
|
|
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)
|
|
|
|
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)
|
|
|
|
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
|
|
|
|
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
|
|
|
|
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)
|
|
|
|
NM_006363.6(SEC23B):c.1831del (p.Arg611fs)
|
|
|
|
NM_006363.6(SEC23B):c.1909del (p.Val637fs)
|
|
|
|
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter)
|
|
|
|
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)
|
|
|
|
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs)
|
|
|
|
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
|
|
|
|
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
|
|
|
|
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
|
|
|
|
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
|
|
|
|
NM_006363.6(SEC23B):c.337del (p.Gln113fs)
|
|
|
|
NM_006363.6(SEC23B):c.490del (p.Val164fs)
|
|
|
|
NM_006363.6(SEC23B):c.545del (p.Gly182fs)
|
|
|
|
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
|
|
|
|
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer)
|
rs1555788144
|
|
|
NM_006363.6(SEC23B):c.584dup (p.Leu195fs)
|
|
|
|
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)
|
|
|
|
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
|
|
|
|
NM_006363.6(SEC23B):c.689+1G>C
|
|
|
|
NM_006363.6(SEC23B):c.689+1G>T
|
|
|
|
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
|
|
|
|
NM_006363.6(SEC23B):c.816del (p.Ile272fs)
|
rs1568606490
|
|
|
NM_006363.6(SEC23B):c.835-2A>G
|
|
|
|
NM_006363.6(SEC23B):c.873del (p.Phe291fs)
|
|
|
|
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
|
|
|
|
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
|
|
|
|
NM_006363.6(SEC23B):c.983dup (p.Ala329fs)
|
|
|
|
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter)
|
rs201674667
|
|
|
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs)
|
rs565782662
|
|
|
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
|
|
|
|
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)
|
rs879255237
|
|
|
NM_012092.4(ICOS):c.17G>A (p.Trp6Ter)
|
|
|
|
NM_012092.4(ICOS):c.181del (p.Ile61fs)
|
rs1690066397
|
|
|
NM_012092.4(ICOS):c.189C>A (p.Cys63Ter)
|
rs537195517
|
|
|
NM_012092.4(ICOS):c.291C>A (p.Tyr97Ter)
|
|
|
|
NM_012092.4(ICOS):c.294del (p.Leu99fs)
|
|
|
|
NM_012092.4(ICOS):c.318T>G (p.Tyr106Ter)
|
rs2105754294
|
|
|
NM_012092.4(ICOS):c.357del (p.Phe119fs)
|
|
|
|
NM_012092.4(ICOS):c.61G>T (p.Glu21Ter)
|
rs1015881666
|
|
|
NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)
|
|
|
|
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)
|
rs772475341
|
|
|
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)
|
|
|
|
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)
|
|
|
|
NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)
|
|
|
|
NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)
|
|
|
|
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)
|
rs2140918991
|
|
|
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)
|
|
|
|
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)
|
|
|
|
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)
|
|
|
|
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)
|
|
|
|
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)
|
rs121908379
|
|
|
NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs)
|
rs1265262160
|
|
|
NM_012452.3(TNFRSF13B):c.25C>T (p.Arg9Ter)
|
rs1383649750
|
|
|
NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter)
|
|
|
|
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs)
|
rs1293048695
|
|
|
NM_012452.3(TNFRSF13B):c.355del (p.Arg119fs)
|
|
|
|
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter)
|
rs104894650
|
|
|
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter)
|
rs104894650
|
|
|
NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs)
|
rs1555550717
|
|
|
NM_012452.3(TNFRSF13B):c.61+1G>A
|
rs1016142312
|
|
|
NM_012452.3(TNFRSF13B):c.61+1G>T
|
rs1016142312
|
|
|
NM_012452.3(TNFRSF13B):c.61+2T>C
|
rs760885614
|
|
|
NM_012452.3(TNFRSF13B):c.91_92del (p.Met31fs)
|
|
|
|
NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs)
|
rs1303637368
|
|
|
NM_013314.4(BLNK):c.1031del (p.Lys344fs)
|
rs2133946382
|
|
|
NM_013314.4(BLNK):c.26del (p.Val9fs)
|
|
|
|
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
|
rs2149323203
|
|
|
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
|
|
|
|
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
|
|
|
|
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
|
|
|
|
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)
|
rs1570829757
|
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
|
NM_015506.3(MMACHC):c.187del (p.Leu63fs)
|
rs1343936481
|
|
|
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
|
|
|
|
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
|
|
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
|
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)
|
rs574983400
|
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
|
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter)
|
rs528744719
|
|
|
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)
|
rs528744719
|
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
|
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
|
|
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
|
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter)
|
rs2149323618
|
|
|
NM_015506.3(MMACHC):c.429+1G>C
|
rs1643668441
|
|
|
NM_015506.3(MMACHC):c.433del (p.Ile145fs)
|
|
|
|
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)
|
rs2149323799
|
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
|
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys)
|
rs756413692
|
|
|
NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)
|
|
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
|
NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
|
|
|
|
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs)
|
rs2149323826
|
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
|
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)
|
rs765960386
|
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
|
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)
|
rs2149323855
|
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
|
NM_015506.3(MMACHC):c.534del (p.Lys178fs)
|
rs2149323872
|
|
|
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
|
|
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
|
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)
|
rs1553162934
|
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
|
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
|
rs200895671
|
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
|
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)
|
rs1233135084
|
|
|
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)
|
rs1399932916
|
|
|
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter)
|
rs796051997
|
|
|
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs)
|
rs1643682280
|
|
|
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
|
|
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
|
NM_015506.3(MMACHC):c.619del (p.Asp207fs)
|
rs765913293
|
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
|
NM_015506.3(MMACHC):c.626dup (p.Thr210fs)
|
rs1570833527
|
|
|
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
|
|
|
|
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
|
rs755843695
|
|
|
NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer)
|
rs2149323994
|
|
|
NM_015506.3(MMACHC):c.648dup (p.Glu217fs)
|
|
|
|
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs)
|
rs1363738186
|
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
|
NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs)
|
|
|
|
NM_015506.3(MMACHC):c.81+1G>A
|
rs745366624
|
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
|
|
|
NM_015506.3(MMACHC):c.81+1G>T
|
|
|
|
NM_015506.3(MMACHC):c.81+2T>C
|
|
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
|
NM_015506.3(MMACHC):c.82-2A>G
|
|
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
|
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer)
|
rs1289618918
|
|
|
NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)
|
|
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
|
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
|
|
|
|
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
|
|
|
|
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
|
|
|
|
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
|
|
|
|
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
|
|
|
|
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
|
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
|
rs1573878695
|
|
|
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter)
|
rs2105048127
|
|
|
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
|
|
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
|
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
|
|
|
|
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)
|
rs1308639482
|
|
|
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
|
|
|
|
NM_015702.3(MMADHC):c.556_557del (p.Met186fs)
|
rs1682706954
|
|
|
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
|
|
|
|
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs)
|
rs2105045491
|
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
|
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
|
|
|
|
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs)
|
rs2105042265
|
|
|
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)
|
rs141093638
|
|
|
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
|
|
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
|
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter)
|
rs2105042210
|
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
|
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
|
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter)
|
|
|
|
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter)
|
|
|
|
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs)
|
|
|
|
NM_017890.5(VPS13B):c.4233dup (p.Thr1412fs)
|
rs2133626786
|
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
|
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
|
|
|
|
NM_018062.4(FANCL):c.13del (p.Glu5fs)
|
|
|
|
NM_018062.4(FANCL):c.1A>C (p.Met1Leu)
|
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
|
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter)
|
rs753105795
|
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
|
NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)
|
|
|
|
NM_018062.4(FANCL):c.235del (p.Asp79fs)
|
|
|
|
NM_018062.4(FANCL):c.268del (p.Leu90fs)
|
rs869320684
|
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
|
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter)
|
rs1196510455
|
|
|
NM_018062.4(FANCL):c.2T>G (p.Met1Arg)
|
rs761291501
|
|
|
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
|
|
|
|
NM_018062.4(FANCL):c.320del (p.Pro107fs)
|
|
|
|
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
|
|
|
|
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
|
|
|
|
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
|
rs756487177
|
|
|
NM_018062.4(FANCL):c.378del (p.Val127fs)
|
|
|
|
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
|
|
|
|
NM_018062.4(FANCL):c.385_397del (p.Ala129fs)
|
rs2105148069
|
|
|
NM_018062.4(FANCL):c.3G>A (p.Met1Ile)
|
rs1694527909
|
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
|
NM_018062.4(FANCL):c.40dup (p.Leu14fs)
|
rs761039364
|
|
|
NM_018062.4(FANCL):c.426_438del (p.Asp142fs)
|
rs878855046
|
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
|
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
|
|
|
|
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
|
|
|
|
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)
|
rs1689679880
|
|
|
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
|
|
|
|
NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)
|
|
|
|
NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
|
|
|
|
NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)
|
|
|
|
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
|
|
|
|
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
|
|
|
|
NM_018062.4(FANCL):c.659del (p.Pro220fs)
|
|
|
|
NM_018062.4(FANCL):c.682del (p.Ile228fs)
|
|
|
|
NM_018062.4(FANCL):c.739_740dup (p.Met247fs)
|
rs1685514075
|
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
|
NM_018062.4(FANCL):c.813_816del (p.His272fs)
|
rs1558735946
|
|
|
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
|
|
|
|
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
|
|
|
|
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
|
|
|
|
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
|
|
|
|
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
|
|
|
|
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)
|
rs529201454
|
|
|
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)
|
rs1423411761
|
|
|
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
|
|
|
|
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)
|
|
|
|
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)
|
|
|
|
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)
|
|
|
|
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)
|
rs1562112648
|
|
|
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)
|
|
|
|
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)
|
rs779151199
|
|
|
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)
|
|
|
|
NM_018368.4(LMBRD1):c.614del (p.Met205fs)
|
|
|
|
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)
|
|
|
|
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)
|
|
|
|
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)
|
|
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
|
NM_018389.5(SLC35C1):c.367del (p.Val123fs)
|
rs2085872592
|
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
|
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)
|
rs1470970903
|
|
|
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter)
|
rs104894325
|
|
|
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)
|
rs2136431608
|
|
|
NM_020661.4(AICDA):c.415A>G (p.Met139Val)
|
rs104894322
|
|
|
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)
|
rs769399833
|
|
|
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp)
|
rs104894324
|
|
|
NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)
|
|
|
|
NM_020937.4(FANCM):c.1015del (p.Asp339fs)
|
rs1216266838
|
|
|
NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)
|
|
|
|
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter)
|
rs765686151
|
|
|
NM_020937.4(FANCM):c.1165del (p.Ile389fs)
|
|
|
|
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter)
|
rs1166587869
|
|
|
NM_020937.4(FANCM):c.1236_1237del (p.Leu412_Tyr413insTer)
|
rs1467556424
|
|
|
NM_020937.4(FANCM):c.1286del (p.Asn429fs)
|
|
|
|
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter)
|
rs1270367757
|
|
|
NM_020937.4(FANCM):c.1363_1366delinsCAAAGTTAAAGAAA (p.Glu455_Val456delinsGlnSerTer)
|
|
|
|
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter)
|
rs552052505
|
|
|
NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter)
|
rs2139186499
|
|
|
NM_020937.4(FANCM):c.1506_1507insTA (p.Ile503Ter)
|
|
|
|
NM_020937.4(FANCM):c.1508_1515del (p.Ile503fs)
|
|
|
|
NM_020937.4(FANCM):c.1560del (p.Phe520fs)
|
rs2139186964
|
|
|
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter)
|
rs1447482674
|
|
|
NM_020937.4(FANCM):c.1677_1678del (p.Ile559fs)
|
rs1887822022
|
|
|
NM_020937.4(FANCM):c.1786_1787insTTAC (p.Arg596fs)
|
rs1887832125
|
|
|
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter)
|
rs778744393
|
|
|
NM_020937.4(FANCM):c.1827_1828dup (p.Lys610fs)
|
rs1888023074
|
|
|
NM_020937.4(FANCM):c.1844del (p.Asn615fs)
|
rs2139214355
|
|
|
NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)
|
|
|
|
NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs)
|
rs777996811
|
|
|
NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)
|
|
|
|
NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)
|
|
|
|
NM_020937.4(FANCM):c.2108dup (p.Thr704fs)
|
|
|
|
NM_020937.4(FANCM):c.2138del (p.Leu713fs)
|
rs1594792135
|
|
|
NM_020937.4(FANCM):c.2199_2202del (p.Ser734fs)
|
rs762570903
|
|
|
NM_020937.4(FANCM):c.2201_2202del (p.Leu733_Ser734insTer)
|
|
|
|
NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter)
|
|
|
|
NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter)
|
rs1888447684
|
|
|
NM_020937.4(FANCM):c.2255del (p.His751_Ser752insTer)
|
|
|
|
NM_020937.4(FANCM):c.2260C>T (p.Arg754Ter)
|
|
|
|
NM_020937.4(FANCM):c.2336dup (p.Leu779fs)
|
rs1404537579
|
|
|
NM_020937.4(FANCM):c.2359del (p.Met787fs)
|
|
|
|
NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)
|
|
|
|
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs)
|
rs768006618
|
|
|
NM_020937.4(FANCM):c.2589del (p.Asp864fs)
|
rs768006618
|
|
|
NM_020937.4(FANCM):c.2590del (p.Asp864fs)
|
rs1566762159
|
|
|
NM_020937.4(FANCM):c.2605_2606del (p.Glu869fs)
|
|
|
|
NM_020937.4(FANCM):c.2629dup (p.Ser877fs)
|
rs1888605629
|
|
|
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer)
|
rs2139244126
|
|
|
NM_020937.4(FANCM):c.2953del (p.Glu985fs)
|
|
|
|
NM_020937.4(FANCM):c.2982dup (p.Ser995fs)
|
|
|
|
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)
|
|
|
|
NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter)
|
|
|
|
NM_020937.4(FANCM):c.3190del (p.Ser1064fs)
|
rs778191984
|
|
|
NM_020937.4(FANCM):c.3235_3238del (p.Leu1080fs)
|
|
|
|
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter)
|
rs1555364837
|
|
|
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs)
|
rs1888681090
|
|
|
NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs)
|
rs2139248770
|
|
|
NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter)
|
rs2139249281
|
|
|
NM_020937.4(FANCM):c.3603del (p.Phe1201fs)
|
|
|
|
NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter)
|
rs372276411
|
|
|
NM_020937.4(FANCM):c.3639dup (p.Val1214fs)
|
|
|
|
NM_020937.4(FANCM):c.3732_3735dup (p.Leu1246fs)
|
rs1159078705
|
|
|
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter)
|
rs1888718087
|
|
|
NM_020937.4(FANCM):c.3844_3856del (p.Pro1282fs)
|
|
|
|
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter)
|
rs751795256
|
|
|
NM_020937.4(FANCM):c.3950dup (p.Asn1317fs)
|
rs2139252496
|
|
|
NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)
|
|
|
|
NM_020937.4(FANCM):c.3985del (p.Ser1329fs)
|
|
|
|
NM_020937.4(FANCM):c.4005del (p.Val1336fs)
|
rs746983128
|
|
|
NM_020937.4(FANCM):c.4005dup (p.Val1336fs)
|
rs746983128
|
|
|
NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)
|
|
|
|
NM_020937.4(FANCM):c.4060_4064del (p.Arg1354fs)
|
|
|
|
NM_020937.4(FANCM):c.4101dup (p.Val1368fs)
|
rs747974206
|
|
|
NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter)
|
rs776133776
|
|
|
NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter)
|
rs1235515288
|
|
|
NM_020937.4(FANCM):c.4279_4283del (p.Val1427fs)
|
|
|
|
NM_020937.4(FANCM):c.4281_4287del (p.Lys1428fs)
|
|
|
|
NM_020937.4(FANCM):c.4285del (p.Arg1429fs)
|
rs1227066484
|
|
|
NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)
|
|
|
|
NM_020937.4(FANCM):c.4304_4305insSVAelement
|
|
|
|
NM_020937.4(FANCM):c.4456del (p.Val1486fs)
|
rs1478392446
|
|
|
NM_020937.4(FANCM):c.4475_4485del (p.Arg1492fs)
|
|
|
|
NM_020937.4(FANCM):c.4477del (p.Arg1493fs)
|
rs1889219103
|
|
|
NM_020937.4(FANCM):c.448C>T (p.Gln150Ter)
|
|
|
|
NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)
|
|
|
|
NM_020937.4(FANCM):c.4504_4505del (p.His1503fs)
|
rs1566775922
|
|
|
NM_020937.4(FANCM):c.4574_4575del (p.Tyr1525fs)
|
|
|
|
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter)
|
rs1594810556
|
|
|
NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer)
|
rs1594810654
|
|
|
NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter)
|
|
|
|
NM_020937.4(FANCM):c.466C>T (p.Gln156Ter)
|
rs1885521004
|
|
|
NM_020937.4(FANCM):c.4779+1del
|
rs764534989
|
|
|
NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)
|
|
|
|
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs)
|
rs1566782962
|
|
|
NM_020937.4(FANCM):c.5097_5100del (p.Lys1699fs)
|
|
|
|
NM_020937.4(FANCM):c.516dup (p.Gln173fs)
|
rs2139106255
|
|
|
NM_020937.4(FANCM):c.5199_5200del (p.Gln1733fs)
|
|
|
|
NM_020937.4(FANCM):c.5201del (p.Thr1734fs)
|
rs2139297782
|
|
|
NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)
|
|
|
|
NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)
|
|
|
|
NM_020937.4(FANCM):c.5315_5316del (p.Asp1771_Cys1772insTer)
|
rs1566783809
|
|
|
NM_020937.4(FANCM):c.5364_5367dup (p.Thr1790Ter)
|
rs1324635932
|
|
|
NM_020937.4(FANCM):c.5380del (p.Ser1794fs)
|
rs1890046687
|
|
|
NM_020937.4(FANCM):c.538del (p.Ile180fs)
|
rs2139106358
|
|
|
NM_020937.4(FANCM):c.5446A>T (p.Lys1816Ter)
|
rs1594481199
|
|
|
NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter)
|
rs1354153410
|
|
|
NM_020937.4(FANCM):c.547_548delinsCTTA (p.Ser183fs)
|
|
|
|
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs)
|
rs1566790465
|
|
|
NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)
|
|
|
|
NM_020937.4(FANCM):c.567_568insGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGCAGACGGGAGAGGGAGAGGGAGACGGGAGCTTTTTTTGAGAGTGCTTTTTCTT (p.Thr190fs)
|
|
|
|
NM_020937.4(FANCM):c.5687_5688dup (p.Ile1897Ter)
|
|
|
|
NM_020937.4(FANCM):c.5707_5708del (p.Glu1903fs)
|
|
|
|
NM_020937.4(FANCM):c.5749_5750del (p.Ser1917fs)
|
rs1203346034
|
|
|
NM_020937.4(FANCM):c.5766_5769del (p.Thr1923fs)
|
|
|
|
NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)
|
|
|
|
NM_020937.4(FANCM):c.708_714del (p.Asn237fs)
|
rs1885850135
|
|
|
NM_020937.4(FANCM):c.710del (p.Asn237fs)
|
rs1340295590
|
|
|
NM_020937.4(FANCM):c.81del (p.Gly28fs)
|
rs2139099848
|
|
|
NM_020937.4(FANCM):c.855del (p.Val286fs)
|
rs2139151883
|
|
|
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer)
|
|
|
|
NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)
|
|
|
|
NM_020937.4(FANCM):c.909_910del (p.Ile305fs)
|
rs1886630094
|
|
|
NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)
|
|
|
|
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
|
|
|
|
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)
|
|
|
|
NM_021922.3(FANCE):c.1096del (p.Ser366fs)
|
rs1272613429
|
|
|
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA
|
rs1767491456
|
|
|
NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)
|
|
|
|
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs)
|
rs2150896309
|
|
|
NM_021922.3(FANCE):c.118del (p.Ala40fs)
|
|
|
|
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)
|
rs1561792535
|
|
|
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)
|
|
|
|
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)
|
|
|
|
NM_021922.3(FANCE):c.1363del (p.Gln455fs)
|
rs1767552099
|
|
|
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)
|
rs2150885915
|
|
|
NM_021922.3(FANCE):c.209del (p.Glu70fs)
|
|
|
|
NM_021922.3(FANCE):c.334del (p.Ser112fs)
|
rs1479445348
|
|
|
NM_021922.3(FANCE):c.339del (p.Leu114fs)
|
|
|
|
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
|
|
|
|
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)
|
|
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
|
NM_021922.3(FANCE):c.4_13del (p.Ala2fs)
|
|
|
|
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
|
|
|
|
NM_021922.3(FANCE):c.538del (p.Ser180fs)
|
|
|
|
NM_021922.3(FANCE):c.614_615del (p.Glu205fs)
|
|
|
|
NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)
|
|
|
|
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
|
|
|
|
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)
|
|
|
|
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)
|
|
|
|
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)
|
rs1767152512
|
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
|
NM_021922.3(FANCE):c.931dup (p.Val311fs)
|
|
|
|
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter)
|
rs1767417868
|
|
|
NM_022051.3(EGLN1):c.494del (p.Pro165fs)
|
|
|
|
NM_022051.3(EGLN1):c.774G>A (p.Trp258Ter)
|
|
|
|
NM_022051.3(EGLN1):c.950C>G (p.Pro317Arg)
|
rs80358193
|
|
|
NM_022725.4(FANCF):c.123dup (p.Arg42fs)
|
rs1858636931
|
|
|
NM_022725.4(FANCF):c.133_136del (p.His45fs)
|
|
|
|
NM_022725.4(FANCF):c.219del (p.Arg74fs)
|
rs1858634363
|
|
|
NM_022725.4(FANCF):c.230_252del (p.Val77fs)
|
rs730880277
|
|
|
NM_022725.4(FANCF):c.236del (p.Gly79fs)
|
|
|
|
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs)
|
rs2133798885
|
|
|
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
|
|
|
|
NM_022725.4(FANCF):c.2T>C (p.Met1Thr)
|
rs745495865
|
|
|
NM_022725.4(FANCF):c.326dup (p.Tyr109Ter)
|
rs2133798073
|
|
|
NM_022725.4(FANCF):c.351_397del (p.Gly120fs)
|
rs730880278
|
|
|
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
|
|
|
|
NM_022725.4(FANCF):c.3G>A (p.Met1Ile)
|
rs2133798927
|
|
|
NM_022725.4(FANCF):c.484_485del (p.Leu162fs)
|
rs587778340
|
|
|
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)
|
|
|
|
NM_022725.4(FANCF):c.538del (p.Ala180fs)
|
|
|
|
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)
|
rs1479457172
|
|
|
NM_022725.4(FANCF):c.63del (p.Tyr22fs)
|
|
|
|
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
|
|
|
|
NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)
|
|
|
|
NM_022725.4(FANCF):c.84del (p.Ala29fs)
|
rs1275961745
|
|
|
NM_022725.4(FANCF):c.88dup (p.Thr30fs)
|
|
|
|
NM_030943.4(AMN):c.1006+34_1007-31del
|
rs386834161
|
|
|
NM_030943.4(AMN):c.1114dup (p.Ala372fs)
|
|
|
|
NM_030943.4(AMN):c.1161dup (p.Arg388fs)
|
|
|
|
NM_030943.4(AMN):c.1173G>A (p.Trp391Ter)
|
|
|
|
NM_030943.4(AMN):c.1255dup (p.Leu419fs)
|
|
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
|
NM_030943.4(AMN):c.170C>G (p.Ser57Ter)
|
|
|
|
NM_030943.4(AMN):c.208-1G>C
|
rs386834169
|
|
|
NM_030943.4(AMN):c.34C>T (p.Gln12Ter)
|
|
|
|
NM_030943.4(AMN):c.411C>A (p.Cys137Ter)
|
|
|
|
NM_030943.4(AMN):c.534_535dup (p.Leu179fs)
|
|
|
|
NM_030943.4(AMN):c.545del (p.Phe182fs)
|
|
|
|
NM_030943.4(AMN):c.587del (p.Gly196fs)
|
|
|
|
NM_030943.4(AMN):c.58del (p.Val20fs)
|
|
|
|
NM_030943.4(AMN):c.663G>A (p.Trp221Ter)
|
rs386834174
|
|
|
NM_030943.4(AMN):c.669C>A (p.Cys223Ter)
|
|
|
|
NM_030943.4(AMN):c.683_705dup (p.Gln236fs)
|
|
|
|
NM_030943.4(AMN):c.73del (p.Val25fs)
|
|
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
|
NM_030943.4(AMN):c.78del (p.Asn27fs)
|
|
|
|
NM_030943.4(AMN):c.791dup (p.Phe265fs)
|
rs2139311251
|
|
|
NM_030943.4(AMN):c.862C>T (p.Gln288Ter)
|
|
|
|
NM_030943.4(AMN):c.890C>A (p.Ser297Ter)
|
|
|
|
NM_030943.4(AMN):c.968_975del (p.Arg323fs)
|
|
|
|
NM_031471.6(FERMT3):c.1029+2T>C
|
rs1591038507
|
|
|
NM_031471.6(FERMT3):c.540del (p.Met181fs)
|
rs2134845306
|
|
|
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs)
|
rs1591028090
|
|
|
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs)
|
rs1591037806
|
|
|
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs)
|
|
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
|
NM_032043.3(BRIP1):c.-31+498_187del
|
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
|
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
|
|
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
|
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs)
|
rs1603343235
|
|
|
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)
|
rs2145335621
|
|
|
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)
|
rs769081927
|
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
|
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)
|
rs2145334953
|
|
|
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)
|
rs2145334576
|
|
|
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
|
|
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
|
NM_032043.3(BRIP1):c.112dup (p.Ser38fs)
|
rs2078951497
|
|
|
NM_032043.3(BRIP1):c.1138del (p.Ser380fs)
|
rs2077985927
|
|
|
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
|
rs1603342339
|
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
|
NM_032043.3(BRIP1):c.1158del (p.Glu387fs)
|
rs2145309797
|
|
|
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)
|
rs1304655615
|
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
|
|
|
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
|
|
|
|
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs)
|
rs2145307730
|
|
|
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs)
|
rs2077951770
|
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
|
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs)
|
rs2077949826
|
|
|
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer)
|
rs2077948208
|
|
|
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs)
|
rs2145303552
|
|
|
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
|
|
|
|
NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter)
|
rs2145302423
|
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
|
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
|
|
|
|
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
|
|
|
|
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)
|
rs1555607070
|
|
|
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs)
|
rs2077947183
|
|
|
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)
|
rs2145300052
|
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)
|
rs2145243883
|
|
|
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)
|
rs2145243385
|
|
|
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)
|
rs587780875
|
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
|
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
|
NM_032043.3(BRIP1):c.1417del (p.Met473fs)
|
rs2145241576
|
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
|
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
|
|
|
|
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs)
|
rs2077853451
|
|
|
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
|
|
|
|
NM_032043.3(BRIP1):c.1457del (p.Thr486fs)
|
rs2145239498
|
|
|
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs)
|
rs2145239459
|
|
|
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs)
|
rs1603340281
|
|
|
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
|
|
|
|
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
|
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
|
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)
|
rs1555618738
|
|
|
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
|
|
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
|
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)
|
rs1603336980
|
|
|
NM_032043.3(BRIP1):c.1537del (p.Ala513fs)
|
rs1567816997
|
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
|
|
|
|
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)
|
rs2078973424
|
|
|
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs)
|
rs2145135739
|
|
|
NM_032043.3(BRIP1):c.1608del (p.Leu537fs)
|
rs2145135618
|
|
|
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
|
rs2077667669
|
|
|
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)
|
rs1603336897
|
|
|
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)
|
rs2078949879
|
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
|
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs)
|
rs2077611091
|
|
|
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)
|
rs2145095898
|
|
|
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)
|
rs2077610620
|
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
|
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)
|
rs1603334619
|
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
|
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
|
rs2077609777
|
|
|
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)
|
rs2145094630
|
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
|
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)
|
rs2077609103
|
|
|
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
|
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
|
NM_032043.3(BRIP1):c.1791del (p.Val598fs)
|
rs1567813223
|
|
|
NM_032043.3(BRIP1):c.1801del (p.Ser601fs)
|
rs2145081748
|
|
|
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs)
|
rs2145850255
|
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
|
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
|
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
|
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
|
|
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
|
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)
|
rs1603367647
|
|
|
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)
|
rs2145849937
|
|
|
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs)
|
rs1555602127
|
|
|
NM_032043.3(BRIP1):c.1935+1del
|
rs2077594062
|
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs)
|
rs2077537479
|
|
|
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs)
|
rs2145033356
|
|
|
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
|
rs2077537050
|
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
|
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs)
|
rs2145032405
|
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
|
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter)
|
rs2145031089
|
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
|
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs)
|
rs2145030551
|
|
|
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs)
|
rs2145029870
|
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
|
NM_032043.3(BRIP1):c.2038_2039del (p.Leu680fs)
|
rs587778134
|
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
|
NM_032043.3(BRIP1):c.2053del (p.Gln685fs)
|
rs2145028011
|
|
|
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
|
|
|
|
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer)
|
rs2145027657
|
|
|
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
|
|
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
|
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter)
|
rs1603328406
|
|
|
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
|
NM_032043.3(BRIP1):c.2109del (p.Lys703fs)
|
rs2144701307
|
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
|
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)
|
rs1057517643
|
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
|
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
|
|
|
|
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
|
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
|
|
|
|
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
|
|
|
|
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)
|
rs1296238058
|
|
|
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
|
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
|
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)
|
rs1555591385
|
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
|
NM_032043.3(BRIP1):c.2221dup (p.Val741fs)
|
rs1567781169
|
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
|
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)
|
rs2144696024
|
|
|
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)
|
rs2077030288
|
|
|
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
|
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
|
|
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
|
NM_032043.3(BRIP1):c.2258-1G>T
|
rs1064793887
|
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
|
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
|
|
|
|
NM_032043.3(BRIP1):c.237del (p.Ala80fs)
|
rs2145830843
|
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
|
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
|
|
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs)
|
rs2144381014
|
|
|
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)
|
rs786204250
|
|
|
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs)
|
rs2144380398
|
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2491del (p.Arg831fs)
|
rs1555580769
|
|
|
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
|
rs2061478781
|
|
|
NM_032043.3(BRIP1):c.2510del (p.Asn837fs)
|
rs2144187480
|
|
|
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
|
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
|
|
|
|
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)
|
rs2145830278
|
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
|
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)
|
rs587781830
|
|
|
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)
|
rs370175724
|
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
|
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs)
|
rs1603277005
|
|
|
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
|
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
|
|
|
|
NM_032043.3(BRIP1):c.2640del (p.Leu881fs)
|
rs1567731917
|
|
|
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2670del (p.Val891fs)
|
rs2144115743
|
|
|
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
|
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
|
NM_032043.3(BRIP1):c.2690del (p.Lys897fs)
|
rs2061358219
|
|
|
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
|
|
|
|
NM_032043.3(BRIP1):c.26del (p.Thr9fs)
|
rs2145865744
|
|
|
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
|
|
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
|
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)
|
rs759080195
|
|
|
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs)
|
rs2144113535
|
|
|
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
|
|
|
|
NM_032043.3(BRIP1):c.2737del (p.Ser913fs)
|
rs1555573386
|
|
|
NM_032043.3(BRIP1):c.2741del (p.Ser913_Leu914insTer)
|
rs2144113001
|
|
|
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs)
|
rs2144112699
|
|
|
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs)
|
rs1603276728
|
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
|
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs)
|
rs1295703239
|
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2792del (p.Pro931fs)
|
rs1555573327
|
|
|
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)
|
rs199643061
|
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
|
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
|
|
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
|
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)
|
rs2061353270
|
|
|
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
|
|
|
|
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)
|
rs761639530
|
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
|
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
|
|
|
|
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
|
|
|
|
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
|
|
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
|
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
|
|
|
|
NM_032043.3(BRIP1):c.308del (p.Gly103fs)
|
rs1555617834
|
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
|
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
|
|
|
|
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs)
|
rs1603366250
|
|
|
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs)
|
rs2145826463
|
|
|
NM_032043.3(BRIP1):c.356del (p.Asn119fs)
|
rs2145826750
|
|
|
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs)
|
rs1567874485
|
|
|
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
|
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
|
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)
|
rs876660080
|
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
|
NM_032043.3(BRIP1):c.440del (p.Tyr147fs)
|
rs1555616176
|
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
|
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter)
|
rs1603362622
|
|
|
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter)
|
rs1603362622
|
|
|
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer)
|
rs2078779429
|
|
|
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs)
|
rs2145763904
|
|
|
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)
|
rs762701532
|
|
|
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
|
|
|
|
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs)
|
rs1567868477
|
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
|
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
|
|
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
|
NM_032043.3(BRIP1):c.478del (p.Arg160fs)
|
rs1555616150
|
|
|
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
|
|
|
|
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
|
|
|
|
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2145761401
|
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
|
NM_032043.3(BRIP1):c.508-2A>G
|
rs876659707
|
|
|
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
|
|
|
|
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)
|
rs1060501765
|
|
|
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
|
|
|
|
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
|
|
|
|
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
|
|
|
|
NM_032043.3(BRIP1):c.548del (p.Leu183fs)
|
rs1060501778
|
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
|
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)
|
rs1555615763
|
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
|
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
|
|
|
|
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer)
|
rs1603361577
|
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
|
NM_032043.3(BRIP1):c.632del (p.Pro211fs)
|
rs1060501779
|
|
|
NM_032043.3(BRIP1):c.637del (p.His213fs)
|
|
|
|
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
|
|
|
|
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
|
rs2078117088
|
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
|
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)
|
rs786201733
|
|
|
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)
|
rs1603368431
|
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
|
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
|
|
|
|
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
|
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
|
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
|
rs2078971612
|
|
|
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs)
|
rs2078112240
|
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
|
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
|
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
|
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs)
|
rs1603368490
|
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
|
NM_032043.3(BRIP1):c.866del (p.Val289fs)
|
rs864622166
|
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
|
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)
|
rs878855159
|
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
|
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)
|
rs1555609121
|
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
|
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
|
|
|
|
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)
|
rs1436085018
|
|
|
NM_032043.3(BRIP1):c.94-7_178dup
|
rs1555618396
|
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
|
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)
|
rs587778139
|
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
|
NM_032043.3(BRIP1):c.96del (p.Leu33fs)
|
rs1603367753
|
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|
|
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)
|
rs2077991700
|
|
|
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
|
|
|
|
NM_032444.4(SLX4):c.1029del (p.Thr345fs)
|
|
|
|
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
|
|
|
|
NM_032444.4(SLX4):c.1093del (p.Gln365fs)
|
rs1218169126
|
|
|
NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter)
|
rs1171341642
|
|
|
NM_032444.4(SLX4):c.1163+2dup
|
rs2040719850
|
|
|
NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)
|
|
|
|
NM_032444.4(SLX4):c.1406dup (p.Leu470fs)
|
|
|
|
NM_032444.4(SLX4):c.1533del (p.Trp513fs)
|
|
|
|
NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)
|
|
|
|
NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)
|
|
|
|
NM_032444.4(SLX4):c.1731dup (p.Glu578fs)
|
|
|
|
NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)
|
|
|
|
NM_032444.4(SLX4):c.1868del (p.Leu623fs)
|
|
|
|
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs)
|
rs1266198754
|
|
|
NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)
|
|
|
|
NM_032444.4(SLX4):c.1957_1960del (p.Thr653fs)
|
|
|
|
NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)
|
|
|
|
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter)
|
rs2151126006
|
|
|
NM_032444.4(SLX4):c.2449del (p.Glu817fs)
|
rs1567170994
|
|
|
NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)
|
|
|
|
NM_032444.4(SLX4):c.2594_2595del (p.Leu865fs)
|
|
|
|
NM_032444.4(SLX4):c.2635_2636insA (p.Trp879Ter)
|
rs2151125489
|
|
|
NM_032444.4(SLX4):c.2793_2805del (p.Gln934fs)
|
|
|
|
NM_032444.4(SLX4):c.2800del (p.Gln934fs)
|
|
|
|
NM_032444.4(SLX4):c.2974_2977del (p.Gly992fs)
|
rs2151124655
|
|
|
NM_032444.4(SLX4):c.307del (p.Leu103fs)
|
|
|
|
NM_032444.4(SLX4):c.3144_3148del (p.His1050fs)
|
|
|
|
NM_032444.4(SLX4):c.3239C>G (p.Ser1080Ter)
|
rs2151123968
|
|
|
NM_032444.4(SLX4):c.3282del (p.Glu1094fs)
|
rs2151123906
|
|
|
NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)
|
|
|
|
NM_032444.4(SLX4):c.3619_3643del (p.Pro1207fs)
|
rs1440022090
|
|
|
NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)
|
|
|
|
NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter)
|
rs770687847
|
|
|
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs)
|
rs878855162
|
|
|
NM_032444.4(SLX4):c.3731del (p.Ser1244fs)
|
|
|
|
NM_032444.4(SLX4):c.383G>A (p.Trp128Ter)
|
rs1193906930
|
|
|
NM_032444.4(SLX4):c.3906del (p.Asn1302fs)
|
|
|
|
NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter)
|
rs2040557100
|
|
|
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)
|
rs2040556390
|
|
|
NM_032444.4(SLX4):c.3961_3962dup (p.Ser1322fs)
|
|
|
|
NM_032444.4(SLX4):c.3983_4115del (p.Val1328fs)
|
rs2151122078
|
|
|
NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)
|
|
|
|
NM_032444.4(SLX4):c.4024del (p.Ser1342fs)
|
|
|
|
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
|
rs1596520443
|
|
|
NM_032444.4(SLX4):c.4133del (p.Pro1378fs)
|
rs1174332682
|
|
|
NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)
|
rs1374549534
|
|
|
NM_032444.4(SLX4):c.4258_4259dup (p.Ile1421fs)
|
rs781663547
|
|
|
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs)
|
rs781663547
|
|
|
NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter)
|
rs1028935047
|
|
|
NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)
|
|
|
|
NM_032444.4(SLX4):c.4336_4340del (p.Thr1446fs)
|
|
|
|
NM_032444.4(SLX4):c.4381_4391del (p.Ala1461fs)
|
rs751653739
|
|
|
NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)
|
|
|
|
NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)
|
|
|
|
NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)
|
|
|
|
NM_032444.4(SLX4):c.4668del (p.Val1558fs)
|
|
|
|
NM_032444.4(SLX4):c.4668dup (p.Lys1557fs)
|
|
|
|
NM_032444.4(SLX4):c.4693dup (p.Gln1565fs)
|
|
|
|
NM_032444.4(SLX4):c.4764del (p.Lys1588fs)
|
rs1567166655
|
|
|
NM_032444.4(SLX4):c.4798C>T (p.Gln1600Ter)
|
rs143026968
|
|
|
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)
|
rs200628199
|
|
|
NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter)
|
rs761469284
|
|
|
NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)
|
|
|
|
NM_032444.4(SLX4):c.4862del (p.Leu1621fs)
|
rs1567166544
|
|
|
NM_032444.4(SLX4):c.4921dup (p.Val1641fs)
|
rs770425994
|
|
|
NM_032444.4(SLX4):c.5055_5058dup (p.Pro1687fs)
|
rs2151116570
|
|
|
NM_032444.4(SLX4):c.514del (p.Leu172fs)
|
rs1567178071
|
|
|
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)
|
rs2040788600
|
|
|
NM_032444.4(SLX4):c.59del (p.Leu20fs)
|
rs1315905872
|
|
|
NM_032444.4(SLX4):c.619_623dup (p.Leu208fs)
|
|
|
|
NM_032444.4(SLX4):c.86_89del (p.Arg29fs)
|
rs2151139911
|
|
|
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter)
|
rs387906632
|
|
|
NM_032638.5(GATA2):c.1017+572C>T
|
rs1559985787
|
|
|
NM_032638.5(GATA2):c.1018-1G>T
|
rs869320668
|
|
|
NM_032638.5(GATA2):c.1018-2A>G
|
rs1576745322
|
|
|
NM_032638.5(GATA2):c.1019C>A (p.Ser340Ter)
|
rs745439347
|
|
|
NM_032638.5(GATA2):c.1024dup (p.Ala342fs)
|
rs2068635607
|
|
|
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter)
|
rs1313081073
|
|
|
NM_032638.5(GATA2):c.1038dup (p.Thr347fs)
|
|
|
|
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)
|
rs387906631
|
|
|
NM_032638.5(GATA2):c.1082_1083dup (p.Arg362fs)
|
|
|
|
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)
|
rs1553770510
|
|
|
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys)
|
rs376003468
|
|
|
NM_032638.5(GATA2):c.1126_1143+54del
|
|
|
|
NM_032638.5(GATA2):c.1148dup (p.Asn383fs)
|
|
|
|
NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter)
|
|
|
|
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)
|
rs1576744529
|
|
|
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln)
|
rs1553770434
|
|
|
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)
|
rs387906629
|
|
|
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln)
|
rs1420609104
|
|
|
NM_032638.5(GATA2):c.1196_1197insAG (p.Met400fs)
|
|
|
|
NM_032638.5(GATA2):c.1217del (p.Lys406fs)
|
|
|
|
NM_032638.5(GATA2):c.202del (p.Ala68fs)
|
|
|
|
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter)
|
rs1254938356
|
|
|
NM_032638.5(GATA2):c.288_289del (p.Trp97fs)
|
|
|
|
NM_032638.5(GATA2):c.305_309del (p.Lys102fs)
|
|
|
|
NM_032638.5(GATA2):c.384dup (p.Ser129fs)
|
|
|
|
NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter)
|
|
|
|
NM_032638.5(GATA2):c.437dup (p.Gly147fs)
|
rs2107672654
|
|
|
NM_032638.5(GATA2):c.476_479dup (p.Pro161fs)
|
rs2107672568
|
|
|
NM_032638.5(GATA2):c.522del (p.Thr176fs)
|
|
|
|
NM_032638.5(GATA2):c.599del (p.Gly200fs)
|
rs768767517
|
|
|
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer)
|
rs768767517
|
|
|
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer)
|
rs1553770949
|
|
|
NM_032638.5(GATA2):c.656_675del (p.Glu219fs)
|
|
|
|
NM_032638.5(GATA2):c.751_752dup (p.Tyr252fs)
|
rs2107672019
|
|
|
NM_032638.5(GATA2):c.783_787dup (p.Gly263fs)
|
|
|
|
NM_032638.5(GATA2):c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC (p.Gly268fs)
|
|
|
|
NM_032638.5(GATA2):c.812dup (p.Pro274fs)
|
rs2107671906
|
|
|
NM_032638.5(GATA2):c.818dup (p.Pro274fs)
|
rs1559986946
|
|
|
NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer)
|
rs1576748366
|
|
|
NM_032638.5(GATA2):c.890_903dup (p.Ala302fs)
|
rs1559986109
|
|
|
NM_032638.5(GATA2):c.971del (p.Lys324fs)
|
rs1576746862
|
|
|
NM_032638.5(GATA2):c.988C>T (p.Arg330Ter)
|
rs1576746847
|
|
|
NM_032638.5(GATA2):c.99C>A (p.Tyr33Ter)
|
|
|
|
NM_033022.4(RPS24):c.13_14del (p.Val5fs)
|
rs1589326484
|
|
|
NM_033022.4(RPS24):c.1A>G (p.Met1Val)
|
rs886039545
|
|
|
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
|
|
|
|
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)
|
rs104894189
|
|
|
NM_033084.4(FANCD2):c.-33-?_1098+?del
|
|
|
|
NM_033084.6(FANCD2):c.2609_2613del
|
|
|
|
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
|
|
|
|
NM_058216.1(RAD51C):c.(?_-1)_837+?del
|
|
|
|
NM_058216.1(RAD51C):c.572-?_(*1_?)del
|
|
|
|
NM_058216.1(RAD51C):c.966-?_1026+?del
|
|
|
|
NM_058216.2(RAD51C):c.572-?_*120del
|
|
|
|
NM_058216.2(RAD51C):c.572-?_705+?del
|
|
|
|
NM_058216.2(RAD51C):c.706-?_*120del
|
|
|
|
NM_058216.3(RAD51C):c.109del (p.Glu37fs)
|
|
|
|
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)
|
rs1598449660
|
|
|
NM_058216.3(RAD51C):c.145+1G>A
|
rs757128712
|
|
|
NM_058216.3(RAD51C):c.145+1G>T
|
rs757128712
|
|
|
NM_058216.3(RAD51C):c.145+2T>G
|
rs1057517641
|
|
|
NM_058216.3(RAD51C):c.158del (p.Ser53fs)
|
rs587782533
|
|
|
NM_058216.3(RAD51C):c.160A>T (p.Lys54Ter)
|
rs2047940709
|
|
|
NM_058216.3(RAD51C):c.168del (p.Ala57fs)
|
rs2143717943
|
|
|
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs)
|
rs786203945
|
|
|
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs)
|
rs587782170
|
|
|
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter)
|
rs1567785872
|
|
|
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter)
|
rs1567785888
|
|
|
NM_058216.3(RAD51C):c.209_210del (p.Thr70fs)
|
|
|
|
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs)
|
rs786202563
|
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
|
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter)
|
rs1555593553
|
|
|
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs)
|
rs2143721294
|
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
|
NM_058216.3(RAD51C):c.274G>T (p.Glu92Ter)
|
rs765304898
|
|
|
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter)
|
rs1555593670
|
|
|
NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter)
|
rs1555593715
|
|
|
NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs)
|
rs2047953067
|
|
|
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter)
|
rs1567782755
|
|
|
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
|
|
|
|
NM_058216.3(RAD51C):c.353_356del (p.Met118fs)
|
|
|
|
NM_058216.3(RAD51C):c.358dup (p.Thr120fs)
|
rs2143725868
|
|
|
NM_058216.3(RAD51C):c.363_370del (p.Glu122fs)
|
|
|
|
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)
|
rs2047958236
|
|
|
NM_058216.3(RAD51C):c.37_38insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGCAGCGGG (p.Asp13fs)
|
|
|
|
NM_058216.3(RAD51C):c.394del (p.Thr132fs)
|
rs730881940
|
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
|
NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter)
|
rs1233795152
|
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
|
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)
|
rs767796996
|
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
|
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter)
|
rs2048021234
|
|
|
NM_058216.3(RAD51C):c.444del (p.Phe148fs)
|
rs1555594617
|
|
|
NM_058216.3(RAD51C):c.444dup (p.Gly149fs)
|
rs1555594617
|
|
|
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)
|
rs1598460178
|
|
|
NM_058216.3(RAD51C):c.472dup (p.Ile158fs)
|
rs2143746162
|
|
|
NM_058216.3(RAD51C):c.478del (p.Thr160fs)
|
|
|
|
NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)
|
|
|
|
NM_058216.3(RAD51C):c.485del (p.Gly162fs)
|
rs2143746632
|
|
|
NM_058216.3(RAD51C):c.491_492del (p.Phe164fs)
|
rs2143746939
|
|
|
NM_058216.3(RAD51C):c.496del (p.Val166fs)
|
rs2143747219
|
|
|
NM_058216.3(RAD51C):c.498del (p.Asp167fs)
|
rs746993675
|
|
|
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs)
|
rs587782699
|
|
|
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)
|
rs587781490
|
|
|
NM_058216.3(RAD51C):c.502dup (p.Arg168fs)
|
rs2143747561
|
|
|
NM_058216.3(RAD51C):c.508del (p.Val169_Val170insTer)
|
|
|
|
NM_058216.3(RAD51C):c.50del (p.Phe17fs)
|
rs1555591851
|
|
|
NM_058216.3(RAD51C):c.519dup (p.Thr174fs)
|
rs1598460710
|
|
|
NM_058216.3(RAD51C):c.525dup (p.Cys176fs)
|
rs768793789
|
|
|
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)
|
rs1598448896
|
|
|
NM_058216.3(RAD51C):c.535del (p.His179fs)
|
rs1555594864
|
|
|
NM_058216.3(RAD51C):c.53del (p.Pro18fs)
|
|
|
|
NM_058216.3(RAD51C):c.54del (p.Leu19fs)
|
|
|
|
NM_058216.3(RAD51C):c.556A>T (p.Lys186Ter)
|
rs1363104728
|
|
|
NM_058216.3(RAD51C):c.561_562del (p.His187fs)
|
rs1057517812
|
|
|
NM_058216.3(RAD51C):c.562_563del (p.Lys188fs)
|
rs2143749861
|
|
|
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs)
|
rs1555594912
|
|
|
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter)
|
rs1330937621
|
|
|
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter)
|
rs1555597094
|
|
|
NM_058216.3(RAD51C):c.597_603del (p.Phe199fs)
|
rs2048269550
|
|
|
NM_058216.3(RAD51C):c.612del (p.Leu205fs)
|
rs2143797889
|
|
|
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
|
|
|
|
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs)
|
rs876659497
|
|
|
NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)
|
|
|
|
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)
|
rs786201909
|
|
|
NM_058216.3(RAD51C):c.650_651del (p.Thr217fs)
|
rs2048272509
|
|
|
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs)
|
rs587782286
|
|
|
NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter)
|
rs201529791
|
|
|
NM_058216.3(RAD51C):c.675del (p.Leu226fs)
|
rs2048274544
|
|
|
NM_058216.3(RAD51C):c.688del (p.Leu230fs)
|
rs2143801496
|
|
|
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs)
|
rs2047807048
|
|
|
NM_058216.3(RAD51C):c.692del (p.Leu230_Ser231insTer)
|
rs2143801795
|
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
|
NM_058216.3(RAD51C):c.704del (p.Lys235fs)
|
rs1567794476
|
|
|
NM_058216.3(RAD51C):c.704dup (p.Val236fs)
|
rs1567794476
|
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
|
NM_058216.3(RAD51C):c.706-1G>A
|
rs1555599090
|
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
|
NM_058216.3(RAD51C):c.72_73insAT (p.Val25fs)
|
rs775482687
|
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
|
NM_058216.3(RAD51C):c.738del (p.Pro247fs)
|
|
|
|
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs)
|
rs1567782936
|
|
|
NM_058216.3(RAD51C):c.75dup (p.Lys26fs)
|
|
|
|
NM_058216.3(RAD51C):c.784_787dup (p.Asn263fs)
|
|
|
|
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
|
|
|
|
NM_058216.3(RAD51C):c.785_786insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGTACTCGGTTATT (p.Leu262delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProPheTer)
|
rs2143852568
|
|
|
NM_058216.3(RAD51C):c.795del (p.Ala266fs)
|
rs2143853617
|
|
|
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
|
|
|
|
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter)
|
rs1567799818
|
|
|
NM_058216.3(RAD51C):c.82dup (p.Val28fs)
|
rs2143677258
|
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
|
NM_058216.3(RAD51C):c.837+4_837+7del
|
rs727503760
|
|
|
NM_058216.3(RAD51C):c.837+5G>A
|
|
|
|
NM_058216.3(RAD51C):c.83dup (p.Ser29fs)
|
|
|
|
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)
|
rs1060502605
|
|
|
NM_058216.3(RAD51C):c.860del (p.Thr287fs)
|
rs2143930383
|
|
|
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)
|
rs1555602141
|
|
|
NM_058216.3(RAD51C):c.905-1G>A
|
rs2143961181
|
|
|
NM_058216.3(RAD51C):c.905-2A>G
|
rs779582317
|
|
|
NM_058216.3(RAD51C):c.905-3_906del
|
rs730881941
|
|
|
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter)
|
rs2143961266
|
|
|
NM_058216.3(RAD51C):c.910del (p.Ser304fs)
|
rs1555603011
|
|
|
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter)
|
rs2143961567
|
|
|
NM_058216.3(RAD51C):c.917del (p.Gly306fs)
|
rs2143961536
|
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|
|
NM_058216.3(RAD51C):c.961C>T (p.Gln321Ter)
|
rs2143963184
|
|
|
NM_058216.3(RAD51C):c.965+1G>A
|
rs730881933
|
|
|
NM_058216.3(RAD51C):c.965+5G>A
|
rs774586107
|
|
|
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs)
|
rs587780840
|
|
|
NM_058216.3(RAD51C):c.981C>A (p.Tyr327Ter)
|
rs2144044910
|
|
|
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)
|
|
|
|
NM_080911.3(UNG):c.162del (p.Gln55fs)
|
|
|
|
NM_080911.3(UNG):c.250dup (p.Arg84fs)
|
|
|
|
NM_080911.3(UNG):c.366_369del (p.Arg122fs)
|
rs757311287
|
|
|
NM_080911.3(UNG):c.392del (p.Pro131fs)
|
|
|
|
NM_080911.3(UNG):c.39del (p.Ser14fs)
|
|
|
|
NM_080911.3(UNG):c.569_570del (p.Ile190fs)
|
rs772764942
|
|
|
NM_080911.3(UNG):c.730C>T (p.Gln244Ter)
|
rs751126274
|
|
|
NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)
|
|
|
|
NM_138387.4(G6PC3):c.163del (p.Ile55fs)
|
|
|
|
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)
|
|
|
|
NM_138387.4(G6PC3):c.215del (p.Lys72fs)
|
|
|
|
NM_138387.4(G6PC3):c.218+2T>C
|
|
|
|
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)
|
|
|
|
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)
|
|
|
|
NM_138387.4(G6PC3):c.376del (p.Ile125_Met126insTer)
|
|
|
|
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)
|
|
|
|
NM_138387.4(G6PC3):c.464del (p.Leu155fs)
|
rs1295168770
|
|
|
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)
|
|
|
|
NM_138387.4(G6PC3):c.575dup (p.Met192fs)
|
|
|
|
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)
|
|
|
|
NM_138387.4(G6PC3):c.635del (p.Leu212fs)
|
rs769634275
|
|
|
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)
|
|
|
|
NM_138387.4(G6PC3):c.677+1G>A
|
rs778208850
|
|
|
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del)
|
rs777475388
|
|
|
NM_138387.4(G6PC3):c.765del (p.Ala257fs)
|
|
|
|
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)
|
rs193922716
|
|
|
NM_139276.3(STAT3):c.1110-2A>G
|
rs2144778323
|
|
|
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)
|
rs113994135
|
|
|
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln)
|
rs113994136
|
|
|
NM_139276.3(STAT3):c.1145G>C (p.Arg382Pro)
|
|
|
|
NM_139276.3(STAT3):c.1181T>C (p.Met394Thr)
|
|
|
|
NM_139276.3(STAT3):c.1228C>T (p.His410Tyr)
|
rs2081903545
|
|
|
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)
|
rs869312888
|
|
|
NM_139276.3(STAT3):c.1311C>A (p.His437Gln)
|
rs1598399795
|
|
|
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del)
|
rs113994138
|
|
|
NM_139276.3(STAT3):c.1397A>C (p.Asn466Thr)
|
rs1057521091
|
|
|
NM_139276.3(STAT3):c.1859C>G (p.Thr620Ser)
|
rs1567708034
|
|
|
NM_139276.3(STAT3):c.1865C>T (p.Thr622Ile)
|
|
|
|
NM_139276.3(STAT3):c.1907C>A (p.Ser636Tyr)
|
|
|
|
NM_139276.3(STAT3):c.1907C>T (p.Ser636Phe)
|
|
|
|
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)
|
rs113994139
|
|
|
NM_139276.3(STAT3):c.1915C>A (p.Pro639Thr)
|
|
|
|
NM_139276.3(STAT3):c.1915C>G (p.Pro639Ala)
|
rs2144683531
|
|
|
NM_139276.3(STAT3):c.1934T>A (p.Leu645Gln)
|
|
|
|
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)
|
rs193922721
|
|
|
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn)
|
rs1555563717
|
|
|
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)
|
rs886039434
|
|
|
NM_139276.3(STAT3):c.2116C>A (p.Leu706Met)
|
rs2144622987
|
|
|
NM_139276.3(STAT3):c.2117T>C (p.Leu706Pro)
|
rs1131691476
|
|
|
NM_139276.3(STAT3):c.2137G>T (p.Val713Leu)
|
|
|
|
NM_139276.3(STAT3):c.2141C>T (p.Thr714Ile)
|
rs2081287195
|
|
|
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)
|
rs1064794957
|
|
|
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met)
|
rs869312892
|
|
|
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp)
|
rs869312890
|
|
|
NM_139276.3(STAT3):c.986T>A (p.Met329Lys)
|
rs1555566820
|
|
|
NM_139276.3(STAT3):c.994C>T (p.His332Tyr)
|
rs2144827923
|
|
|
NM_152564.5(VPS13B):c.10000_10019dup (p.Pro3341fs)
|
rs2130902516
|
|
|
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs)
|
rs386834054
|
|
|
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)
|
rs1057516324
|
|
|
NM_152564.5(VPS13B):c.10080del (p.Thr3361fs)
|
|
|
|
NM_152564.5(VPS13B):c.10087A>T (p.Lys3363Ter)
|
rs1816395005
|
|
|
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter)
|
rs1014479884
|
|
|
NM_152564.5(VPS13B):c.10161_10170del (p.Arg3388fs)
|
|
|
|
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)
|
rs1554581267
|
|
|
NM_152564.5(VPS13B):c.10189del (p.Cys3397fs)
|
|
|
|
NM_152564.5(VPS13B):c.10209dup (p.Pro3404fs)
|
|
|
|
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10327del (p.Val3443fs)
|
rs1816408985
|
|
|
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
|
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs)
|
rs1816414644
|
|
|
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs)
|
rs1554581504
|
|
|
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter)
|
rs1847921335
|
|
|
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs)
|
rs1354326532
|
|
|
NM_152564.5(VPS13B):c.10636C>T (p.Gln3546Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter)
|
rs2130918298
|
|
|
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter)
|
rs1057520769
|
|
|
NM_152564.5(VPS13B):c.10812del (p.Arg3604fs)
|
|
|
|
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs)
|
|
|
|
NM_152564.5(VPS13B):c.10936del (p.Val3646fs)
|
rs2130933596
|
|
|
NM_152564.5(VPS13B):c.10975del (p.Arg3659fs)
|
rs1816713664
|
|
|
NM_152564.5(VPS13B):c.10982del (p.Pro3661fs)
|
rs2130933734
|
|
|
NM_152564.5(VPS13B):c.11016del (p.Thr3673fs)
|
|
|
|
NM_152564.5(VPS13B):c.11044+2T>C
|
rs587777382
|
|
|
NM_152564.5(VPS13B):c.11047del (p.Thr3683fs)
|
rs2130941591
|
|
|
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)
|
rs386834058
|
|
|
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs)
|
|
|
|
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter)
|
rs2130941863
|
|
|
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11216-2A>G
|
rs867112705
|
|
|
NM_152564.5(VPS13B):c.1122del (p.Met375fs)
|
|
|
|
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs)
|
rs1347701279
|
|
|
NM_152564.5(VPS13B):c.11252del (p.Asn3751fs)
|
rs2130962934
|
|
|
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)
|
rs1057516245
|
|
|
NM_152564.5(VPS13B):c.11275C>T (p.Gln3759Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs)
|
|
|
|
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs)
|
|
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
|
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs)
|
|
|
|
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs)
|
|
|
|
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs)
|
|
|
|
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter)
|
rs2130972411
|
|
|
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs)
|
rs1588810695
|
|
|
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs)
|
rs2130972502
|
|
|
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs)
|
|
|
|
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs)
|
rs2130972632
|
|
|
NM_152564.5(VPS13B):c.11496-2A>G
|
rs1554588353
|
|
|
NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs)
|
|
|
|
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)
|
rs1554625838
|
|
|
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs)
|
rs1588811810
|
|
|
NM_152564.5(VPS13B):c.11524_11525del (p.Glu3842fs)
|
|
|
|
NM_152564.5(VPS13B):c.11602G>T (p.Glu3868Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
|
NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs)
|
rs2130975687
|
|
|
NM_152564.5(VPS13B):c.11638C>T (p.Gln3880Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11655del (p.Val3886fs)
|
rs1212294259
|
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
|
NM_152564.5(VPS13B):c.11725dup (p.Arg3909fs)
|
rs2130976122
|
|
|
NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs)
|
rs2130976129
|
|
|
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs)
|
rs755827237
|
|
|
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11804_11808dup (p.Lys3937fs)
|
rs1263684271
|
|
|
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs)
|
rs1371736348
|
|
|
NM_152564.5(VPS13B):c.11809_11812dup (p.Thr3938fs)
|
|
|
|
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs)
|
rs1371736348
|
|
|
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs)
|
|
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
|
NM_152564.5(VPS13B):c.11832del (p.Ser3945fs)
|
|
|
|
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)
|
rs180177374
|
|
|
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)
|
rs773094891
|
|
|
NM_152564.5(VPS13B):c.11839_11842dup (p.Ser3948fs)
|
rs1817657601
|
|
|
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs)
|
rs1554590433
|
|
|
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs)
|
rs1057517328
|
|
|
NM_152564.5(VPS13B):c.11886dup (p.Ser3963fs)
|
|
|
|
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs)
|
|
|
|
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter)
|
rs1809977682
|
|
|
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)
|
rs1408744761
|
|
|
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1366del (p.Cys456fs)
|
rs2132555225
|
|
|
NM_152564.5(VPS13B):c.1378del (p.Ile460fs)
|
rs1810006084
|
|
|
NM_152564.5(VPS13B):c.1406del (p.Asn469fs)
|
|
|
|
NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs)
|
|
|
|
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter)
|
rs2132125704
|
|
|
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1482del (p.Thr495fs)
|
rs2132556658
|
|
|
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs)
|
|
|
|
NM_152564.5(VPS13B):c.1527del (p.Arg510fs)
|
rs2132556766
|
|
|
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1604del (p.Ala535fs)
|
rs1810088202
|
|
|
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs)
|
|
|
|
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)
|
rs1057517177
|
|
|
NM_152564.5(VPS13B):c.1732del (p.Val578fs)
|
rs2132581182
|
|
|
NM_152564.5(VPS13B):c.1755_1759dup (p.Asp587fs)
|
rs1810518393
|
|
|
NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter)
|
rs2132581276
|
|
|
NM_152564.5(VPS13B):c.1762del (p.Ser588fs)
|
rs2132581325
|
|
|
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs)
|
|
|
|
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs)
|
|
|
|
NM_152564.5(VPS13B):c.2107dup (p.Ser703fs)
|
rs1811379645
|
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
|
NM_152564.5(VPS13B):c.2190T>A (p.Tyr730Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2274del (p.Val759fs)
|
|
|
|
NM_152564.5(VPS13B):c.2321_2322del (p.Leu774fs)
|
rs2132663525
|
|
|
NM_152564.5(VPS13B):c.2334G>A (p.Trp778Ter)
|
rs2132727940
|
|
|
NM_152564.5(VPS13B):c.2347_2348del (p.Gln783fs)
|
rs1813682416
|
|
|
NM_152564.5(VPS13B):c.2381del (p.Pro794fs)
|
rs2132728101
|
|
|
NM_152564.5(VPS13B):c.2387_2388del (p.Leu796fs)
|
rs2132728144
|
|
|
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter)
|
rs869312923
|
|
|
NM_152564.5(VPS13B):c.2425C>T (p.Gln809Ter)
|
rs2132728269
|
|
|
NM_152564.5(VPS13B):c.2445G>A (p.Trp815Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2507del (p.Leu836fs)
|
|
|
|
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs)
|
rs2132728587
|
|
|
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs)
|
rs1818768251
|
|
|
NM_152564.5(VPS13B):c.2536del (p.Leu846fs)
|
rs1818768394
|
|
|
NM_152564.5(VPS13B):c.2558del (p.Ile853fs)
|
|
|
|
NM_152564.5(VPS13B):c.2560C>T (p.Gln854Ter)
|
rs2132994876
|
|
|
NM_152564.5(VPS13B):c.2583C>A (p.Cys861Ter)
|
rs199868590
|
|
|
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)
|
rs140936527
|
|
|
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
|
|
|
|
NM_152564.5(VPS13B):c.2651-1G>A
|
rs386834077
|
|
|
NM_152564.5(VPS13B):c.2723del (p.Lys908fs)
|
|
|
|
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs)
|
|
|
|
NM_152564.5(VPS13B):c.276del (p.Lys93fs)
|
|
|
|
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer)
|
|
|
|
NM_152564.5(VPS13B):c.2778del (p.Phe927fs)
|
rs1818830393
|
|
|
NM_152564.5(VPS13B):c.285dup (p.Ile96fs)
|
|
|
|
NM_152564.5(VPS13B):c.2879T>G (p.Leu960Ter)
|
rs775378782
|
|
|
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter)
|
rs1563700205
|
|
|
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2963dup (p.Met988fs)
|
|
|
|
NM_152564.5(VPS13B):c.2989dup (p.Glu997fs)
|
rs2133312597
|
|
|
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter)
|
rs2133312718
|
|
|
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)
|
rs1057516670
|
|
|
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs)
|
|
|
|
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs)
|
rs2133312827
|
|
|
NM_152564.5(VPS13B):c.3151G>T (p.Glu1051Ter)
|
rs2133412405
|
|
|
NM_152564.5(VPS13B):c.3194_3198del (p.Lys1065fs)
|
rs2133412472
|
|
|
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs)
|
|
|
|
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
|
|
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
|
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs)
|
|
|
|
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
|
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3461G>A (p.Trp1154Ter)
|
rs2133510708
|
|
|
NM_152564.5(VPS13B):c.3492_3493dup (p.Thr1165fs)
|
rs2133510772
|
|
|
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs)
|
|
|
|
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs)
|
|
|
|
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs)
|
|
|
|
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter)
|
rs2133511511
|
|
|
NM_152564.5(VPS13B):c.3682G>T (p.Glu1228Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3701del (p.Asn1234fs)
|
rs1820043726
|
|
|
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)
|
rs753645306
|
|
|
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)
|
rs1057516653
|
|
|
NM_152564.5(VPS13B):c.3974G>A (p.Trp1325Ter)
|
rs2133609831
|
|
|
NM_152564.5(VPS13B):c.3999del (p.Thr1334fs)
|
|
|
|
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs)
|
|
|
|
NM_152564.5(VPS13B):c.4050_4053del (p.Cys1350fs)
|
rs1821315647
|
|
|
NM_152564.5(VPS13B):c.413-2A>G
|
rs2132453775
|
|
|
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)
|
rs1057517076
|
|
|
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)
|
rs386834084
|
|
|
NM_152564.5(VPS13B):c.4267_4273del (p.Phe1423fs)
|
|
|
|
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs)
|
|
|
|
NM_152564.5(VPS13B):c.4529_4535dup (p.His1512fs)
|
rs2133637853
|
|
|
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)
|
rs1554826566
|
|
|
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs)
|
rs1554826615
|
|
|
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter)
|
|
|
|
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)
|
rs386834090
|
|
|
NM_152564.5(VPS13B):c.4717A>T (p.Arg1573Ter)
|
rs1822355402
|
|
|
NM_152564.5(VPS13B):c.4745+1G>C
|
|
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
|
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter)
|
rs2133764725
|
|
|
NM_152564.5(VPS13B):c.483del (p.Lys161fs)
|
rs2132453991
|
|
|
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)
|
rs180177360
|
|
|
NM_152564.5(VPS13B):c.4876_4877del (p.Val1626fs)
|
rs1588491595
|
|
|
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4949+2T>G
|
|
|
|
NM_152564.5(VPS13B):c.4959del (p.His1654fs)
|
rs1166814614
|
|
|
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs)
|
|
|
|
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs)
|
rs1563806122
|
|
|
NM_152564.5(VPS13B):c.5163dup (p.His1722fs)
|
|
|
|
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer)
|
rs1434257397
|
|
|
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs)
|
|
|
|
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs)
|
|
|
|
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)
|
rs752399634
|
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
|
NM_152564.5(VPS13B):c.5354_5375del (p.Gln1785fs)
|
rs1829386577
|
|
|
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs)
|
|
|
|
NM_152564.5(VPS13B):c.541dup (p.Val181fs)
|
|
|
|
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs)
|
|
|
|
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter)
|
rs1227284058
|
|
|
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs)
|
rs1176397159
|
|
|
NM_152564.5(VPS13B):c.5540dup (p.Ser1848fs)
|
rs386834095
|
|
|
NM_152564.5(VPS13B):c.5577del (p.Ala1860fs)
|
|
|
|
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs)
|
|
|
|
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs)
|
|
|
|
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs)
|
|
|
|
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer)
|
|
|
|
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs)
|
rs386834096
|
|
|
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs)
|
|
|
|
NM_152564.5(VPS13B):c.572del (p.Asp191fs)
|
rs1588038976
|
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
|
NM_152564.5(VPS13B):c.5771del (p.Leu1924fs)
|
rs2133932364
|
|
|
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs)
|
rs2133932487
|
|
|
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)
|
rs886041323
|
|
|
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)
|
rs755125969
|
|
|
NM_152564.5(VPS13B):c.5931del (p.Ala1978fs)
|
rs2129763497
|
|
|
NM_152564.5(VPS13B):c.5946C>A (p.Cys1982Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter)
|
rs1554892040
|
|
|
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
|
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs)
|
|
|
|
NM_152564.5(VPS13B):c.6118del (p.Leu2040fs)
|
rs2130179621
|
|
|
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs)
|
rs2130179734
|
|
|
NM_152564.5(VPS13B):c.6147_6148del (p.His2049fs)
|
rs1588635717
|
|
|
NM_152564.5(VPS13B):c.6183del (p.Asn2062fs)
|
|
|
|
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs)
|
rs2130180236
|
|
|
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs)
|
|
|
|
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs)
|
|
|
|
NM_152564.5(VPS13B):c.6299_6308del (p.Trp2100fs)
|
rs1554911731
|
|
|
NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG (p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg)
|
rs2130180694
|
|
|
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter)
|
rs2130181003
|
|
|
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs)
|
|
|
|
NM_152564.5(VPS13B):c.6330del (p.Val2111fs)
|
|
|
|
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)
|
rs1057516287
|
|
|
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs)
|
|
|
|
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter)
|
rs2130181483
|
|
|
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs)
|
|
|
|
NM_152564.5(VPS13B):c.6447del (p.Val2150fs)
|
rs2130181658
|
|
|
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)
|
rs1057516494
|
|
|
NM_152564.5(VPS13B):c.6470C>G (p.Ser2157Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs)
|
rs1057517318
|
|
|
NM_152564.5(VPS13B):c.6523_6526del (p.Arg2175fs)
|
|
|
|
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs)
|
|
|
|
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs)
|
rs2130317561
|
|
|
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs)
|
|
|
|
NM_152564.5(VPS13B):c.664G>T (p.Glu222Ter)
|
rs2132481787
|
|
|
NM_152564.5(VPS13B):c.6657+1G>T
|
rs180177366
|
|
|
NM_152564.5(VPS13B):c.6657+2T>C
|
rs1832966881
|
|
|
NM_152564.5(VPS13B):c.6689del (p.Cys2229_Leu2230insTer)
|
|
|
|
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs)
|
|
|
|
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs)
|
rs1833089251
|
|
|
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs)
|
|
|
|
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter)
|
rs1833092121
|
|
|
NM_152564.5(VPS13B):c.6865+1G>T
|
rs202046738
|
|
|
NM_152564.5(VPS13B):c.6882del (p.Val2296fs)
|
|
|
|
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer)
|
|
|
|
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)
|
rs767858119
|
|
|
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs)
|
|
|
|
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs)
|
rs2130621458
|
|
|
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs)
|
|
|
|
NM_152564.5(VPS13B):c.7191_7192del (p.Ser2398fs)
|
rs1811255718
|
|
|
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs)
|
rs886041184
|
|
|
NM_152564.5(VPS13B):c.7247+2T>C
|
rs1563908020
|
|
|
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)
|
rs1554952465
|
|
|
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter)
|
rs980463746
|
|
|
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs)
|
|
|
|
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter)
|
rs2130678821
|
|
|
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs)
|
|
|
|
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter)
|
rs1811869155
|
|
|
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter)
|
rs2130679206
|
|
|
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs)
|
rs2130679794
|
|
|
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs)
|
rs2130680017
|
|
|
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs)
|
rs1812158350
|
|
|
NM_152564.5(VPS13B):c.7864del (p.Val2622fs)
|
|
|
|
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter)
|
rs2130702734
|
|
|
NM_152564.5(VPS13B):c.7946T>A (p.Leu2649Ter)
|
rs2130785617
|
|
|
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)
|
rs1554622608
|
|
|
NM_152564.5(VPS13B):c.7982G>A (p.Trp2661Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter)
|
rs1813585665
|
|
|
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs)
|
|
|
|
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)
|
rs1554560735
|
|
|
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs)
|
rs2130810644
|
|
|
NM_152564.5(VPS13B):c.816dup (p.Met273fs)
|
rs1554622647
|
|
|
NM_152564.5(VPS13B):c.817_818del (p.Met273fs)
|
rs2132497770
|
|
|
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer)
|
|
|
|
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs)
|
|
|
|
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter)
|
rs2130810847
|
|
|
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs)
|
|
|
|
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs)
|
rs1554565645
|
|
|
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter)
|
rs1379711249
|
|
|
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs)
|
|
|
|
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs)
|
|
|
|
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)
|
rs1057516484
|
|
|
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs)
|
|
|
|
NM_152564.5(VPS13B):c.8421del (p.Asn2808fs)
|
rs1588743576
|
|
|
NM_152564.5(VPS13B):c.8430del (p.Val2811fs)
|
rs2130813174
|
|
|
NM_152564.5(VPS13B):c.8437C>T (p.Gln2813Ter)
|
rs2130813187
|
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
|
NM_152564.5(VPS13B):c.8461_8462del (p.Leu2821fs)
|
rs2130813849
|
|
|
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs)
|
rs2130813916
|
|
|
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs)
|
rs2130813918
|
|
|
NM_152564.5(VPS13B):c.8505_8538dup (p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer)
|
rs2130813950
|
|
|
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs)
|
|
|
|
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)
|
rs765302278
|
|
|
NM_152564.5(VPS13B):c.855C>A (p.Tyr285Ter)
|
rs1256482530
|
|
|
NM_152564.5(VPS13B):c.8560C>T (p.Gln2854Ter)
|
rs2130814064
|
|
|
NM_152564.5(VPS13B):c.8622-2A>G
|
rs386834115
|
|
|
NM_152564.5(VPS13B):c.865del (p.Glu288_Ile289insTer)
|
rs2132497933
|
|
|
NM_152564.5(VPS13B):c.8710del (p.Val2904fs)
|
|
|
|
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs)
|
|
|
|
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8855_8856del (p.Tyr2952fs)
|
rs2130817575
|
|
|
NM_152564.5(VPS13B):c.8859_8862dup (p.Thr2955Ter)
|
rs2130817608
|
|
|
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)
|
rs727504219
|
|
|
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter)
|
rs797046098
|
|
|
NM_152564.5(VPS13B):c.896del (p.Asp299fs)
|
rs2132498049
|
|
|
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs)
|
rs1057516538
|
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
|
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter)
|
|
|
|
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter)
|
|
|
|
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs)
|
rs386834117
|
|
|
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs)
|
rs1057516789
|
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
|
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs)
|
|
|
|
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs)
|
rs773945333
|
|
|
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter)
|
|
|
|
NM_152564.5(VPS13B):c.9331-1G>A
|
rs386834119
|
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
|
NM_152564.5(VPS13B):c.9331-2A>G
|
rs74485751
|
|
|
NM_152564.5(VPS13B):c.9333T>G (p.Tyr3111Ter)
|
rs1563497733
|
|
|
NM_152564.5(VPS13B):c.9416G>A (p.Trp3139Ter)
|
rs1563497844
|
|
|
NM_152564.5(VPS13B):c.9448del (p.Leu3150fs)
|
|
|
|
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)
|
rs753770252
|
|
|
NM_152564.5(VPS13B):c.9525G>A (p.Trp3175Ter)
|
rs2130858310
|
|
|
NM_152564.5(VPS13B):c.9537_9540dup (p.Val3181fs)
|
rs2130858335
|
|
|
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)
|
rs1554574028
|
|
|
NM_152564.5(VPS13B):c.9563dup (p.Ser3189fs)
|
rs2130858386
|
|
|
NM_152564.5(VPS13B):c.9565_9566del (p.Ser3189fs)
|
|
|
|
NM_152564.5(VPS13B):c.95del (p.Gly32fs)
|
|
|
|
NM_152564.5(VPS13B):c.9615-1G>A
|
rs2130865334
|
|
|
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter)
|
rs1563499381
|
|
|
NM_152564.5(VPS13B):c.9639del (p.Glu3213fs)
|
|
|
|
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)
|
rs941969577
|
|
|
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs)
|
|
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
|
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter)
|
|
|
|
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs)
|
|
|
|
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)
|
rs774357106
|
|
|
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter)
|
rs1205613982
|
|
|
NM_152564.5(VPS13B):c.9843_9862del (p.Lys3282fs)
|
rs2130866580
|
|
|
NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA (p.Val3298fs)
|
rs2130866708
|
|
|
NM_152564.5(VPS13B):c.9905G>A (p.Trp3302Ter)
|
rs2130866735
|
|
|
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs)
|
|
|
|
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)
|
rs1301330402
|
|
|
NM_152564.5(VPS13B):c.9943-1G>A
|
|
|
|
NM_152564.5(VPS13B):c.9943-2A>G
|
rs1816111137
|
|
|
NM_173841.3(IL1RN):c.25G>T (p.Glu9Ter)
|
|
|
|
NM_173841.3(IL1RN):c.52G>T (p.Glu18Ter)
|
|
|
|
NM_173842.3(IL1RN):c.133C>T (p.Gln45Ter)
|
|
|
|
NM_173842.3(IL1RN):c.156_157del (p.Asn52fs)
|
rs672601268
|
|
|
NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del)
|
rs1340890598
|
|
|
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
|
|
|
|
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)
|
rs1289537429
|
|
|
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs)
|
rs1289537429
|
|
|
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)
|
rs1057519838
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>C
|
rs587777709
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>T
|
rs587777709
|
|
|
NM_181523.3(PIK3R1):c.1425+2T>A
|
rs1554051075
|
|
|
NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys)
|
rs773686816
|
|
|
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)
|
rs1561299903
|
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
|
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter)
|
rs1339790364
|
|
|
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter)
|
rs397509384
|
|
|
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter)
|
rs367669362
|
|
|
NM_181523.3(PIK3R1):c.965del (p.Met322fs)
|
rs1580260232
|
|
|
NM_182916.3(TRNT1):c.1012_1013del (p.Thr337_Asp338insTer)
|
|
|
|
NM_182916.3(TRNT1):c.1013_1016del (p.Asp338fs)
|
|
|
|
NM_182916.3(TRNT1):c.1013_1016dup (p.Ser339delinsArgTer)
|
|
|
|
NM_182916.3(TRNT1):c.1038_1041dup (p.Asp348fs)
|
rs1706137764
|
|
|
NM_182916.3(TRNT1):c.1053_1054insT (p.Asp352Ter)
|
rs2126037181
|
|
|
NM_182916.3(TRNT1):c.1055_1056+5del
|
rs770760147
|
|
|
NM_182916.3(TRNT1):c.1056+1G>A
|
rs369179242
|
|
|
NM_182916.3(TRNT1):c.1056+1G>T
|
|
|
|
NM_182916.3(TRNT1):c.1057-7C>G
|
rs368078167
|
|
|
NM_182916.3(TRNT1):c.1150_1157del (p.Pro384fs)
|
|
|
|
NM_182916.3(TRNT1):c.1163dup (p.Ser389fs)
|
|
|
|
NM_182916.3(TRNT1):c.1178_1184del (p.Ile393fs)
|
rs2126038227
|
|
|
NM_182916.3(TRNT1):c.1190del (p.Gly397fs)
|
rs2126038249
|
|
|
NM_182916.3(TRNT1):c.1205_1206dup (p.Glu403fs)
|
rs1449106096
|
|
|
NM_182916.3(TRNT1):c.1228C>T (p.Gln410Ter)
|
|
|
|
NM_182916.3(TRNT1):c.1234C>T (p.Arg412Ter)
|
|
|
|
NM_182916.3(TRNT1):c.1252_1253insT (p.Ser418fs)
|
rs1706186945
|
|
|
NM_182916.3(TRNT1):c.1252del (p.Ser418fs)
|
rs876661298
|
|
|
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)
|
rs876661298
|
|
|
NM_182916.3(TRNT1):c.151_160del (p.Leu51fs)
|
|
|
|
NM_182916.3(TRNT1):c.176_182del (p.Glu58_Leu59insTer)
|
|
|
|
NM_182916.3(TRNT1):c.240del (p.Phe80fs)
|
rs1297648080
|
|
|
NM_182916.3(TRNT1):c.263_266del (p.Gln88fs)
|
rs772722561
|
|
|
NM_182916.3(TRNT1):c.324_330del (p.His108fs)
|
rs776199133
|
|
|
NM_182916.3(TRNT1):c.373del (p.Leu125fs)
|
rs1553554007
|
|
|
NM_182916.3(TRNT1):c.428_431del (p.Asp143fs)
|
rs1401711549
|
|
|
NM_182916.3(TRNT1):c.433C>T (p.Gln145Ter)
|
|
|
|
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs)
|
rs754883449
|
|
|
NM_182916.3(TRNT1):c.501dup (p.Asp168Ter)
|
rs1445182754
|
|
|
NM_182916.3(TRNT1):c.512dup (p.Asn171fs)
|
|
|
|
NM_182916.3(TRNT1):c.542_545del (p.Val181fs)
|
rs769317780
|
|
|
NM_182916.3(TRNT1):c.544_545insAA (p.Arg182fs)
|
|
|
|
NM_182916.3(TRNT1):c.569_570del (p.Arg190fs)
|
|
|
|
NM_182916.3(TRNT1):c.5_12del (p.Leu2fs)
|
|
|
|
NM_182916.3(TRNT1):c.608+1G>A
|
rs529290186
|
|
|
NM_182916.3(TRNT1):c.667del (p.Ile223fs)
|
|
|
|
NM_182916.3(TRNT1):c.689_693del (p.Leu230fs)
|
|
|
|
NM_182916.3(TRNT1):c.711del (p.Ile238fs)
|
rs2126034894
|
|
|
NM_182916.3(TRNT1):c.733dup (p.Ile245fs)
|
rs1706032688
|
|
|
NM_182916.3(TRNT1):c.73C>T (p.Gln25Ter)
|
rs1415152805
|
|
|
NM_182916.3(TRNT1):c.778del (p.Asp260fs)
|
rs1433432612
|
|
|
NM_182916.3(TRNT1):c.809del (p.Pro270fs)
|
rs2126036604
|
|
|
NM_182916.3(TRNT1):c.847A>T (p.Lys283Ter)
|
rs749437475
|
|
|
NM_182916.3(TRNT1):c.851dup (p.Asn284fs)
|
rs2126036713
|
|
|
NM_182916.3(TRNT1):c.865del (p.Ser289fs)
|
rs1575066836
|
|
|
NM_182916.3(TRNT1):c.971T>G (p.Leu324Ter)
|
|
|
|
NM_182916.3(TRNT1):c.974_977del (p.Leu324_Phe325insTer)
|
rs1249830698
|
|
|
NM_182916.3(TRNT1):c.996_999del (p.Asp332fs)
|
rs769331677
|
|
|
NM_183235.3(RAB27A):c.147_148del (p.Arg50fs)
|
|
|
|
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer)
|
rs1555394745
|
|
|
NM_183235.3(RAB27A):c.240-2A>C
|
|
|
|
NM_183235.3(RAB27A):c.251dup (p.Leu84fs)
|
rs1895911610
|
|
|
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)
|
rs104894497
|
|
|
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr)
|
rs141281020
|
|
|
NM_183235.3(RAB27A):c.335del (p.Asn112fs)
|
rs756644243
|
|
|
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)
|
rs104894500
|
|
|
NM_183235.3(RAB27A):c.377del (p.Pro126fs)
|
rs1895696380
|
|
|
NM_183235.3(RAB27A):c.423_424del (p.Arg141fs)
|
rs766575263
|
|
|
NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter)
|
rs75258234
|
|
|
NM_183235.3(RAB27A):c.460A>T (p.Lys154Ter)
|
rs2140958324
|
|
|
NM_183235.3(RAB27A):c.465T>A (p.Tyr155Ter)
|
|
|
|
NM_183235.3(RAB27A):c.467+1G>C
|
rs756071120
|
|
|
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)
|
rs767481076
|
|
|
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs)
|
rs1595700039
|
|
|
NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)
|
|
|
|
NM_203447.4(DOCK8):c.1125+1G>A
|
|
|
|
NM_203447.4(DOCK8):c.1134_1138del (p.Glu378fs)
|
|
|
|
NM_203447.4(DOCK8):c.1271_1274dup (p.Ser426fs)
|
rs2130879011
|
|
|
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg)
|
rs112321280
|
|
|
NM_203447.4(DOCK8):c.1470del (p.Tyr491fs)
|
|
|
|
NM_203447.4(DOCK8):c.1473del (p.Asp490_Tyr491insTer)
|
|
|
|
NM_203447.4(DOCK8):c.1497_1501del (p.Arg499fs)
|
|
|
|
NM_203447.4(DOCK8):c.1589_1614del (p.Val530fs)
|
|
|
|
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter)
|
rs1057518028
|
|
|
NM_203447.4(DOCK8):c.1878del (p.Tyr628fs)
|
|
|
|
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)
|
rs1287635563
|
|
|
NM_203447.4(DOCK8):c.2010dup (p.Leu671fs)
|
|
|
|
NM_203447.4(DOCK8):c.2464G>T (p.Glu822Ter)
|
rs372503899
|
|
|
NM_203447.4(DOCK8):c.27_28del (p.Ala11fs)
|
rs1312725371
|
|
|
NM_203447.4(DOCK8):c.310C>T (p.Gln104Ter)
|
|
|
|
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs)
|
rs748134881
|
|
|
NM_203447.4(DOCK8):c.3340dup (p.Met1114fs)
|
|
|
|
NM_203447.4(DOCK8):c.3371_3377dup (p.Ile1127fs)
|
|
|
|
NM_203447.4(DOCK8):c.3500_3507dup (p.Ala1170fs)
|
rs112659914
|
|
|
NM_203447.4(DOCK8):c.3547del (p.Arg1183fs)
|
|
|
|
NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter)
|
|
|
|
NM_203447.4(DOCK8):c.3803del (p.Phe1268fs)
|
rs2056112807
|
|
|
NM_203447.4(DOCK8):c.4070C>A (p.Ser1357Ter)
|
|
|
|
NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter)
|
rs1476130680
|
|
|
NM_203447.4(DOCK8):c.4163del (p.Arg1388fs)
|
rs2131648737
|
|
|
NM_203447.4(DOCK8):c.4215G>A (p.Trp1405Ter)
|
|
|
|
NM_203447.4(DOCK8):c.4235dup (p.Asp1413fs)
|
|
|
|
NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter)
|
|
|
|
NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter)
|
|
|
|
NM_203447.4(DOCK8):c.5161C>T (p.Gln1721Ter)
|
rs754989398
|
|
|
NM_203447.4(DOCK8):c.5261del (p.Leu1754fs)
|
rs886041815
|
|
|
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter)
|
rs775544616
|
|
|
NM_203447.4(DOCK8):c.5481dup (p.Arg1828Ter)
|
rs2131814069
|
|
|
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs)
|
rs869312169
|
|
|
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)
|
|
|
|
NM_203447.4(DOCK8):c.6115C>T (p.Gln2039Ter)
|
rs2131982095
|
|
|
NM_203447.4(DOCK8):c.760del (p.Arg254fs)
|
rs2130746906
|
|
|
NM_203447.4(DOCK8):c.851del (p.Leu284fs)
|
rs2130807292
|
|
|
NM_206965.2(FTCD):c.1366dup (p.Glu456fs)
|
rs777099958
|
|
|
NM_206965.2(FTCD):c.293dup (p.Val99fs)
|
rs1310075515
|
|
|
NM_206965.2(FTCD):c.372C>G (p.Tyr124Ter)
|
|
|
|
NM_206965.2(FTCD):c.378C>G (p.Tyr126Ter)
|
rs374724805
|
|
|
Single allele
|
|
|