NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)
|
rs144908351
|
0.00282
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
NM_005236.3(ERCC4):c.1812-5T>C
|
rs2020952
|
0.00215
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)
|
rs74977201
|
0.00176
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)
|
rs147826749
|
0.00115
|
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)
|
rs142008398
|
0.00114
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)
|
rs149097636
|
0.00098
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)
|
rs1800068
|
0.00082
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)
|
rs141567438
|
0.00069
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)
|
rs141141752
|
0.00052
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His)
|
rs140452766
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg)
|
rs139865448
|
0.00045
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
|
rs141367100
|
0.00042
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)
|
rs138484365
|
0.00034
|
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)
|
rs61751578
|
0.00029
|
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)
|
rs758238449
|
0.00026
|
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)
|
rs56369086
|
0.00025
|
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)
|
rs991748781
|
0.00025
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)
|
rs139547269
|
0.00020
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)
|
rs112387610
|
0.00019
|
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)
|
rs200649435
|
0.00019
|
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val)
|
rs372921011
|
0.00019
|
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)
|
rs140357734
|
0.00018
|
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)
|
rs952309844
|
0.00017
|
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
|
rs151089298
|
0.00016
|
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg)
|
rs375827113
|
0.00016
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg)
|
rs146040966
|
0.00016
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)
|
rs138618354
|
0.00015
|
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys)
|
rs371020401
|
0.00014
|
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val)
|
rs200178217
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)
|
rs201192909
|
0.00011
|
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)
|
rs140687953
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)
|
rs199652831
|
0.00009
|
NM_018062.4(FANCL):c.-3G>C
|
rs766104531
|
0.00009
|
NM_022725.4(FANCF):c.911G>C (p.Trp304Ser)
|
rs372140217
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys)
|
rs368711186
|
0.00008
|
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)
|
rs563513081
|
0.00008
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00007
|
NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr)
|
rs370663234
|
0.00007
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys)
|
rs143701205
|
0.00006
|
NM_004629.2(FANCG):c.766C>T (p.His256Tyr)
|
rs753955326
|
0.00006
|
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)
|
rs765454246
|
0.00006
|
NM_005236.3(ERCC4):c.257G>A (p.Arg86His)
|
rs187435008
|
0.00006
|
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg)
|
rs546628836
|
0.00006
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
|
rs201589909
|
0.00005
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
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.3055C>T (p.Arg1019Trp)
|
rs149167939
|
0.00005
|
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
|
rs121918164
|
0.00005
|
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys)
|
rs759314410
|
0.00005
|
NM_032444.4(SLX4):c.1379G>A (p.Arg460His)
|
rs369994733
|
0.00005
|
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)
|
rs140529288
|
0.00005
|
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys)
|
rs762619200
|
0.00005
|
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)
|
rs537923341
|
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_000135.4(FANCA):c.445T>G (p.Leu149Val)
|
rs372814783
|
0.00004
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
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_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)
|
rs572439259
|
0.00004
|
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)
|
rs762052950
|
0.00004
|
NM_005431.2(XRCC2):c.271C>T (p.Arg91Trp)
|
rs730882043
|
0.00004
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg)
|
rs201528578
|
0.00004
|
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly)
|
rs540547787
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg)
|
rs1481598103
|
0.00003
|
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln)
|
rs750421982
|
0.00003
|
NM_000135.4(FANCA):c.3828+1G>C
|
rs1432988639
|
0.00003
|
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile)
|
rs1254151716
|
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_000136.3(FANCC):c.127G>A (p.Glu43Lys)
|
rs374836770
|
0.00003
|
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)
|
rs730881724
|
0.00003
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
NM_001113378.2(FANCI):c.1891-2A>G
|
rs776329920
|
0.00003
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala)
|
rs375757497
|
0.00003
|
NM_004629.2(FANCG):c.730G>A (p.Val244Met)
|
rs746248064
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn)
|
rs149470704
|
0.00003
|
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)
|
rs199683722
|
0.00003
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
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.1672G>T (p.Val558Phe)
|
rs758866109
|
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_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)
|
rs771869385
|
0.00002
|
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu)
|
rs760823688
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser)
|
rs781605384
|
0.00002
|
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr)
|
rs751126921
|
0.00002
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
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_005236.3(ERCC4):c.2087C>T (p.Pro696Leu)
|
rs752894496
|
0.00002
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
NM_018062.4(FANCL):c.500T>C (p.Val167Ala)
|
rs1338440311
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu)
|
rs369805557
|
0.00002
|
NM_032444.4(SLX4):c.2157G>T (p.Gln719His)
|
rs768316000
|
0.00002
|
NM_032444.4(SLX4):c.796G>A (p.Ala266Thr)
|
rs543071212
|
0.00002
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
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.1279A>G (p.Met427Val)
|
rs368103890
|
0.00001
|
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys)
|
rs1012809189
|
0.00001
|
NM_000135.4(FANCA):c.1776+1G>A
|
rs756140957
|
0.00001
|
NM_000135.4(FANCA):c.189+1G>T
|
rs891323617
|
0.00001
|
NM_000135.4(FANCA):c.190-1G>C
|
rs765277254
|
0.00001
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
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.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala)
|
rs764893807
|
0.00001
|
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg)
|
rs1437529209
|
0.00001
|
NM_000135.4(FANCA):c.3513+1G>A
|
rs1188082371
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu)
|
rs777313447
|
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.4098G>C (p.Gln1366His)
|
rs1041491550
|
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.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.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
NM_000136.3(FANCC):c.1329+1G>T
|
rs1554829441
|
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.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
NM_000136.3(FANCC):c.583G>C (p.Asp195His)
|
rs774140528
|
0.00001
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro)
|
rs864622191
|
0.00001
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)
|
rs1181436417
|
0.00001
|
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser)
|
rs911843298
|
0.00001
|
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp)
|
rs752621186
|
0.00001
|
NM_001018115.3(FANCD2):c.2494+2T>C
|
rs779552164
|
0.00001
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
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.4233G>C (p.Glu1411Asp)
|
rs61753270
|
0.00001
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)
|
rs374328858
|
0.00001
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
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.233C>T (p.Ser78Leu)
|
rs754443451
|
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.25G>A (p.Ala9Thr)
|
rs770499988
|
0.00001
|
NM_001113378.2(FANCI):c.3006+3A>G
|
rs1294973649
|
0.00001
|
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs)
|
rs756691827
|
0.00001
|
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg)
|
rs757964620
|
0.00001
|
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)
|
rs767443643
|
0.00001
|
NM_004629.2(FANCG):c.175+1G>A
|
rs927868500
|
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.85-2A>T
|
rs759590778
|
0.00001
|
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile)
|
rs61757386
|
0.00001
|
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
|
rs754484649
|
0.00001
|
NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp)
|
rs1234856735
|
0.00001
|
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met)
|
rs746106147
|
0.00001
|
NM_005431.2(XRCC2):c.97G>C (p.Ala33Pro)
|
rs774296079
|
0.00001
|
NM_018062.4(FANCL):c.273+1G>C
|
rs144729980
|
0.00001
|
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile)
|
rs377429618
|
0.00001
|
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg)
|
rs770063294
|
0.00001
|
NM_018062.4(FANCL):c.992A>C (p.Gln331Pro)
|
rs746967598
|
0.00001
|
NM_021922.3(FANCE):c.104C>T (p.Ala35Val)
|
rs570498238
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.1238-1G>C
|
rs1767507722
|
0.00001
|
NM_021922.3(FANCE):c.1510-1G>A
|
rs772678337
|
0.00001
|
NM_021922.3(FANCE):c.248+1del
|
rs1767163932
|
0.00001
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
NM_021922.3(FANCE):c.297del (p.Met99fs)
|
rs754850404
|
0.00001
|
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)
|
rs121434505
|
0.00001
|
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln)
|
rs777849670
|
0.00001
|
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg)
|
rs757993614
|
0.00001
|
NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp)
|
rs1052888437
|
0.00001
|
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)
|
rs760126773
|
0.00001
|
NM_032444.4(SLX4):c.2208G>C (p.Gln736His)
|
rs1293011888
|
0.00001
|
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser)
|
rs779426291
|
0.00001
|
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe)
|
rs556682517
|
0.00001
|
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)
|
rs763539738
|
0.00001
|
NM_032444.4(SLX4):c.5384G>A (p.Arg1795His)
|
rs926700658
|
0.00001
|
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)
|
rs587781680
|
0.00001
|
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp)
|
rs538884532
|
0.00001
|
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)
|
rs779834376
|
0.00001
|
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr)
|
rs863224590
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
NM_000135.4(FANCA):c.1006+1G>A
|
|
|
NM_000135.4(FANCA):c.1007-2A>G
|
rs2040110878
|
|
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
|
|
|
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
|
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1084-1G>T
|
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
|
|
|
NM_000135.4(FANCA):c.1226-2A>C
|
|
|
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
|
|
|
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
|
|
|
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
|
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
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.1326del (p.Ser443fs)
|
|
|
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
|
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)
|
rs1438828232
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
NM_000135.4(FANCA):c.1471-1G>T
|
rs2039777078
|
|
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)
|
rs925457555
|
|
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
|
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys)
|
rs753719658
|
|
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)
|
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
NM_000135.4(FANCA):c.1630del (p.His544fs)
|
|
|
NM_000135.4(FANCA):c.16dup (p.Val6fs)
|
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
|
|
|
NM_000135.4(FANCA):c.1826+2T>C
|
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
|
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
NM_000135.4(FANCA):c.1900+1G>T
|
rs1598120768
|
|
NM_000135.4(FANCA):c.1901-3C>A
|
rs17226526
|
|
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)
|
rs2039386741
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val)
|
rs986889143
|
|
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs)
|
rs754104046
|
|
NM_000135.4(FANCA):c.2151+1dup
|
rs777971510
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
NM_000135.4(FANCA):c.2222+1G>T
|
rs775388912
|
|
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
|
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
|
|
|
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)
|
rs751572448
|
|
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
|
rs761725308
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr)
|
rs2039267533
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
|
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2529C>G (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.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
|
|
|
NM_000135.4(FANCA):c.2602-2A>C
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2604_2609del
|
|
|
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
|
|
|
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)
|
rs1017086086
|
|
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg)
|
rs2039079300
|
|
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)
|
rs2039078843
|
|
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
|
|
|
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
|
|
|
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)
|
rs1060501880
|
|
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
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+2T>C
|
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
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.2981+1G>A
|
rs1555542860
|
|
NM_000135.4(FANCA):c.2982-1G>C
|
rs1555540076
|
|
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
|
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter)
|
rs147176389
|
|
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
|
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
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.3188G>A (p.Trp1063Ter)
|
rs1166286386
|
|
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)
|
rs776391208
|
|
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
|
|
|
NM_000135.4(FANCA):c.3239+1dup
|
rs766989857
|
|
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter)
|
rs775799529
|
|
NM_000135.4(FANCA):c.32del (p.Ser11fs)
|
|
|
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
|
|
|
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
|
|
|
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)
|
rs786204246
|
|
NM_000135.4(FANCA):c.3409-25_3418del
|
|
|
NM_000135.4(FANCA):c.3409-2A>G
|
|
|
NM_000135.4(FANCA):c.3409-3_3417del
|
|
|
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
|
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3504_3513+55del
|
|
|
NM_000135.4(FANCA):c.3514-1G>C
|
|
|
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)
|
rs1555536446
|
|
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
|
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
|
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3626+5G>C
|
rs370801038
|
|
NM_000135.4(FANCA):c.3627-1G>A
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
|
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
|
|
|
NM_000135.4(FANCA):c.3765+1G>A
|
|
|
NM_000135.4(FANCA):c.3765+2C>T
|
rs776827467
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)
|
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
|
rs1183256870
|
|
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
|
NM_000135.4(FANCA):c.3828+1G>A
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3828+1G>T
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
|
|
|
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
|
|
|
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.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.3937del (p.Leu1313fs)
|
|
|
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
|
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)
|
rs773113065
|
|
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser)
|
rs768733593
|
|
NM_000135.4(FANCA):c.4100_4167+2del
|
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
|
|
|
NM_000135.4(FANCA):c.4168-2A>G
|
rs1220672299
|
|
NM_000135.4(FANCA):c.416_417del (p.Val139fs)
|
rs864622188
|
|
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
|
|
|
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.4254_4255delinsC (p.Ala1419fs)
|
|
|
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)
|
rs984285795
|
|
NM_000135.4(FANCA):c.426+1G>A
|
rs1343463467
|
|
NM_000135.4(FANCA):c.4260+1G>A
|
rs1060501887
|
|
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.4275del (p.Asp1427fs)
|
rs1598048941
|
|
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
|
|
|
NM_000135.4(FANCA):c.50del (p.Gly17fs)
|
rs748624754
|
|
NM_000135.4(FANCA):c.522+2T>G
|
|
|
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
|
|
|
NM_000135.4(FANCA):c.596+2T>C
|
rs1555573118
|
|
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
|
|
|
NM_000135.4(FANCA):c.709+1G>A
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.710-10G>A
|
rs2040524006
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.792+1G>C
|
|
|
NM_000135.4(FANCA):c.793-2A>T
|
|
|
NM_000135.4(FANCA):c.80-2A>G
|
|
|
NM_000135.4(FANCA):c.80-99_105del
|
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
NM_000135.4(FANCA):c.83del (p.Gly28fs)
|
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg)
|
rs1467900630
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.94del (p.Arg32fs)
|
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
|
|
|
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)
|
rs1057516919
|
|
NM_000136.3(FANCC):c.1154+1del
|
|
|
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
|
|
|
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)
|
rs2071939263
|
|
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
|
rs765551897
|
|
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
|
|
|
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
|
|
|
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
|
|
|
NM_000136.3(FANCC):c.1329+115C>T
|
rs2071912393
|
|
NM_000136.3(FANCC):c.1329+1del
|
|
|
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)
|
rs1057516298
|
|
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)
|
rs2134456127
|
|
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)
|
rs1564641485
|
|
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
|
|
|
NM_000136.3(FANCC):c.163del (p.Met55fs)
|
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
NM_000136.3(FANCC):c.169del (p.Ser57fs)
|
|
|
NM_000136.3(FANCC):c.220del (p.Ala74fs)
|
rs1588350264
|
|
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)
|
rs777918411
|
|
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter)
|
rs1830584796
|
|
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
|
|
|
NM_000136.3(FANCC):c.29dup (p.Cys10fs)
|
rs878853671
|
|
NM_000136.3(FANCC):c.345+1del
|
rs1057516247
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000136.3(FANCC):c.346-1G>C
|
|
|
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)
|
rs587779904
|
|
NM_000136.3(FANCC):c.357_358del (p.His120fs)
|
rs1588220764
|
|
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)
|
rs1588220728
|
|
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
|
|
|
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp)
|
rs1419677503
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.457-2A>G
|
|
|
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.507del (p.Phe169fs)
|
rs1588218493
|
|
NM_000136.3(FANCC):c.547del (p.Leu183fs)
|
|
|
NM_000136.3(FANCC):c.5dup (p.Gln3fs)
|
rs1268491295
|
|
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe)
|
rs1269365165
|
|
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)
|
rs374176091
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000136.3(FANCC):c.686+1G>C
|
rs1057517125
|
|
NM_000136.3(FANCC):c.705del (p.Met236fs)
|
rs2135168243
|
|
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter)
|
rs1588134571
|
|
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
|
|
|
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
|
|
|
NM_000136.3(FANCC):c.843+1G>C
|
rs587779909
|
|
NM_000136.3(FANCC):c.883dup (p.Asp295fs)
|
rs1826007748
|
|
NM_000136.3(FANCC):c.897-1G>A
|
rs1588101086
|
|
NM_000136.3(FANCC):c.8_9del (p.Gln3fs)
|
rs1831183107
|
|
NM_000136.3(FANCC):c.907del (p.Leu303fs)
|
|
|
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
|
rs1825775052
|
|
NM_000136.3(FANCC):c.996+1_996+2insGA
|
rs1825770738
|
|
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)
|
rs776802337
|
|
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg)
|
rs2092364017
|
|
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)
|
|
|
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
|
|
|
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
|
|
|
NM_001018115.3(FANCD2):c.1135-1G>C
|
|
|
NM_001018115.3(FANCD2):c.1279-2A>C
|
|
|
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
|
|
|
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly)
|
rs2087075324
|
|
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
|
|
|
NM_001018115.3(FANCD2):c.1545+1G>T
|
|
|
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
|
|
|
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
|
|
|
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
|
|
|
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
|
|
|
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
|
|
|
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
|
|
|
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
|
|
|
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)
|
rs757567225
|
|
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
|
|
|
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
|
|
|
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
|
|
|
NM_001018115.3(FANCD2):c.206-1G>T
|
rs2124974541
|
|
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
|
|
|
NM_001018115.3(FANCD2):c.2169-1G>C
|
rs141783465
|
|
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
|
|
|
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)
|
rs56041034
|
|
NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)
|
|
|
NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)
|
|
|
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)
|
rs762544228
|
|
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
|
|
|
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
|
|
|
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
|
|
|
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu)
|
rs532250395
|
|
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
|
|
|
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
|
|
|
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
|
|
|
NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr)
|
rs2125060186
|
|
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg)
|
rs759516610
|
|
NM_001018115.3(FANCD2):c.3224+1G>T
|
rs1468320596
|
|
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
|
|
|
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
|
|
|
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
|
|
|
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
|
|
|
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
|
|
|
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs)
|
rs2125072480
|
|
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)
|
rs1559403654
|
|
NM_001018115.3(FANCD2):c.3466+1G>A
|
|
|
NM_001018115.3(FANCD2):c.3560+1G>A
|
|
|
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val)
|
rs2086517367
|
|
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu)
|
rs1486214768
|
|
NM_001018115.3(FANCD2):c.378-1G>C
|
|
|
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
|
|
|
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)
|
rs757499508
|
|
NM_001018115.3(FANCD2):c.3889-2A>G
|
|
|
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
|
|
|
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
|
|
|
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
|
|
|
NM_001018115.3(FANCD2):c.4186-2A>G
|
|
|
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)
|
rs2086805219
|
|
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
|
|
|
NM_001018115.3(FANCD2):c.65-2A>G
|
|
|
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
|
|
|
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
|
|
|
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
|
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
|
|
|
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala)
|
rs2053319905
|
|
NM_001113378.2(FANCI):c.1112+2T>C
|
|
|
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
|
|
|
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
|
|
|
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
|
|
|
NM_001113378.2(FANCI):c.1293+1G>T
|
|
|
NM_001113378.2(FANCI):c.1382-5T>C
|
rs2151549574
|
|
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
|
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
|
NM_001113378.2(FANCI):c.1584-1G>A
|
|
|
NM_001113378.2(FANCI):c.1584-1G>C
|
|
|
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
|
|
|
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
|
|
|
NM_001113378.2(FANCI):c.1699-2A>C
|
|
|
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
|
|
|
NM_001113378.2(FANCI):c.1890+1G>T
|
|
|
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
|
|
|
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
|
|
|
NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile)
|
|
|
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
|
|
|
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
|
|
|
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
|
|
|
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
|
|
|
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
|
|
|
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
|
|
|
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
|
|
|
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
|
|
|
NM_001113378.2(FANCI):c.2291+2T>A
|
rs1400441798
|
|
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs)
|
rs1567165630
|
|
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)
|
rs758062617
|
|
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
|
|
|
NM_001113378.2(FANCI):c.2456+1G>A
|
|
|
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
|
|
|
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
|
|
|
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
|
|
|
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
|
|
|
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
|
|
|
NM_001113378.2(FANCI):c.2637-1G>T
|
|
|
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
|
|
|
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
|
|
|
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
|
|
|
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs)
|
rs745893292
|
|
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
|
|
|
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
|
|
|
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)
|
rs1359408831
|
|
NM_001113378.2(FANCI):c.2804-2A>G
|
|
|
NM_001113378.2(FANCI):c.2804-2A>T
|
|
|
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
|
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
NM_001113378.2(FANCI):c.2889+1G>A
|
|
|
NM_001113378.2(FANCI):c.2890-2A>C
|
|
|
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
|
|
|
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
|
|
|
NM_001113378.2(FANCI):c.3007-1G>C
|
|
|
NM_001113378.2(FANCI):c.3007-1G>T
|
|
|
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
|
|
|
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
|
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
|
|
|
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
|
|
|
NM_001113378.2(FANCI):c.3255+1G>C
|
rs779079622
|
|
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
|
|
|
NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly)
|
rs548947826
|
|
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
|
|
|
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
|
|
|
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
|
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs)
|
rs1567179036
|
|
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
|
|
|
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)
|
rs2152017390
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.3924+2T>C
|
|
|
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys)
|
rs1411317487
|
|
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
|
|
|
NM_001113378.2(FANCI):c.446del
|
|
|
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
|
|
|
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
|
|
|
NM_001113378.2(FANCI):c.546-5C>T
|
rs2052826764
|
|
NM_001113378.2(FANCI):c.669+1G>T
|
|
|
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
|
|
|
NM_001113378.2(FANCI):c.775G>A (p.Val259Met)
|
rs2053062704
|
|
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
|
|
|
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
|
|
|
NM_001113378.2(FANCI):c.834del (p.Ile279fs)
|
rs748961800
|
|
NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly)
|
|
|
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)
|
rs754986558
|
|
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
|
|
|
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
|
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
NM_001113525.2(ZNF276):c.*474_*481del
|
rs1567591276
|
|
NM_001113525.2(ZNF276):c.*732G>A
|
rs775180524
|
|
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)
|
rs397507560
|
|
NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)
|
|
|
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)
|
rs121434426
|
|
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)
|
rs1326382443
|
|
NM_004629.2(FANCG):c.1144-1G>A
|
|
|
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.1182_1192delinsC (p.Glu395fs)
|
rs397507559
|
|
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
|
|
|
NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)
|
|
|
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs)
|
rs2131053943
|
|
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
|
|
|
NM_004629.2(FANCG):c.1434-2A>C
|
rs1829062071
|
|
NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)
|
|
|
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
|
|
|
NM_004629.2(FANCG):c.1480+1G>A
|
|
|
NM_004629.2(FANCG):c.1483del
|
rs760738460
|
|
NM_004629.2(FANCG):c.156dup (p.Leu53fs)
|
rs863224506
|
|
NM_004629.2(FANCG):c.1593del (p.Ala533fs)
|
rs761519737
|
|
NM_004629.2(FANCG):c.1636+1G>C
|
|
|
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)
|
rs770263417
|
|
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter)
|
rs2131051951
|
|
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)
|
rs1829041127
|
|
NM_004629.2(FANCG):c.176-6_190del
|
|
|
NM_004629.2(FANCG):c.1771dup (p.Leu591fs)
|
rs746392434
|
|
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
|
|
|
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)
|
rs1829130135
|
|
NM_004629.2(FANCG):c.272del (p.Asp91fs)
|
|
|
NM_004629.2(FANCG):c.306_307del (p.Arg102fs)
|
|
|
NM_004629.2(FANCG):c.307+1G>A
|
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
NM_004629.2(FANCG):c.308-1G>A
|
|
|
NM_004629.2(FANCG):c.336del (p.Arg113fs)
|
rs2131058595
|
|
NM_004629.2(FANCG):c.347_348del (p.Gln116fs)
|
|
|
NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)
|
|
|
NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)
|
|
|
NM_004629.2(FANCG):c.510+1G>A
|
|
|
NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)
|
|
|
NM_004629.2(FANCG):c.552dup (p.Ser185fs)
|
rs1412207017
|
|
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)
|
rs755361015
|
|
NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)
|
|
|
NM_004629.2(FANCG):c.619del (p.Leu207fs)
|
|
|
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)
|
rs587776640
|
|
NM_004629.2(FANCG):c.646+1G>T
|
rs1028569753
|
|
NM_004629.2(FANCG):c.682del (p.Ala228fs)
|
|
|
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
|
|
|
NM_004629.2(FANCG):c.713dup (p.Leu239fs)
|
rs2131056549
|
|
NM_004629.2(FANCG):c.721_733del (p.Pro241fs)
|
|
|
NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
|
|
|
NM_004629.2(FANCG):c.797dup (p.Leu267fs)
|
|
|
NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)
|
|
|
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
|
|
|
NM_004629.2(FANCG):c.907del (p.Leu303fs)
|
|
|
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)
|
rs1563986439
|
|
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
|
|
|
NM_004629.2(FANCG):c.941del (p.Cys314fs)
|
|
|
NM_004629.2(FANCG):c.99_103del (p.Gly34fs)
|
|
|
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)
|
rs145851520
|
|
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
|
|
|
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val)
|
rs376216413
|
|
NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu)
|
rs2031938186
|
|
NM_005236.3(ERCC4):c.207+5G>C
|
rs766355378
|
|
NM_005236.3(ERCC4):c.2249G>A (p.Arg750His)
|
rs748870665
|
|
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)
|
rs2020961
|
|
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)
|
rs2020961
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
|
|
|
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
|
|
|
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
|
|
|
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
|
|
|
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)
|
rs750871999
|
|
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
|
|
|
NM_018062.4(FANCL):c.1092+1G>C
|
|
|
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
|
|
|
NM_018062.4(FANCL):c.217-2A>G
|
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.273+1G>A
|
rs144729980
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
|
|
|
NM_018062.4(FANCL):c.375-2033C>G
|
rs1690571577
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
|
rs199966372
|
|
NM_018062.4(FANCL):c.590del (p.Leu197fs)
|
|
|
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
|
|
|
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
|
|
|
NM_018062.4(FANCL):c.691+2_691+5del
|
|
|
NM_018062.4(FANCL):c.70del (p.Val24fs)
|
|
|
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
|
|
|
NM_018062.4(FANCL):c.738dup (p.Met247fs)
|
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
|
|
|
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
|
|
|
NM_018062.4(FANCL):c.903+1del
|
|
|
NM_018062.4(FANCL):c.904-4G>T
|
rs757211531
|
|
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)
|
rs529201454
|
|
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
|
|
|
NM_018124.4(RFWD3):c.1577G>A (p.Ser526Asn)
|
|
|
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
|
|
|
NM_021922.3(FANCE):c.1096del (p.Ser366fs)
|
rs1272613429
|
|
NM_021922.3(FANCE):c.1113+2T>A
|
|
|
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
|
|
|
NM_021922.3(FANCE):c.118del (p.Ala40fs)
|
|
|
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)
|
|
|
NM_021922.3(FANCE):c.1237+1G>A
|
|
|
NM_021922.3(FANCE):c.1238-2A>C
|
|
|
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)
|
rs1561792535
|
|
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
|
|
|
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
|
|
|
NM_021922.3(FANCE):c.1317-1G>A
|
|
|
NM_021922.3(FANCE):c.1383+2T>C
|
|
|
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile)
|
rs1767643426
|
|
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
|
|
|
NM_021922.3(FANCE):c.248+1G>A
|
rs1480350743
|
|
NM_021922.3(FANCE):c.248+1G>T
|
|
|
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
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|
|
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln)
|
rs45600543
|
|
NM_021922.3(FANCE):c.334del (p.Ser112fs)
|
rs1479445348
|
|
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
|
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
NM_021922.3(FANCE):c.505del (p.Arg169fs)
|
|
|
NM_021922.3(FANCE):c.524del (p.Gly175fs)
|
rs773363446
|
|
NM_021922.3(FANCE):c.524dup (p.Arg176fs)
|
rs773363446
|
|
NM_021922.3(FANCE):c.538del (p.Ser180fs)
|
|
|
NM_021922.3(FANCE):c.635del (p.Glu212fs)
|
|
|
NM_021922.3(FANCE):c.836del (p.Glu279fs)
|
|
|
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
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|
|
NM_021922.3(FANCE):c.929del (p.Pro310fs)
|
rs587778337
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
NM_021922.3(FANCE):c.969+1G>A
|
|
|
NM_022725.4(FANCF):c.133_136del (p.His45fs)
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|
|
NM_022725.4(FANCF):c.167del (p.Thr56fs)
|
|
|
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)
|
|
|
NM_022725.4(FANCF):c.219del (p.Arg74fs)
|
rs1858634363
|
|
NM_022725.4(FANCF):c.230_252del (p.Val77fs)
|
rs730880277
|
|
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.349C>T (p.Pro117Ser)
|
rs372625322
|
|
NM_022725.4(FANCF):c.351_397del (p.Gly120fs)
|
rs730880278
|
|
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
|
|
|
NM_022725.4(FANCF):c.434del (p.Met145fs)
|
|
|
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer)
|
rs778546226
|
|
NM_022725.4(FANCF):c.484_485del (p.Leu162fs)
|
rs587778340
|
|
NM_022725.4(FANCF):c.496C>T (p.Gln166Ter)
|
rs766279442
|
|
NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)
|
|
|
NM_022725.4(FANCF):c.530_537del (p.Val177fs)
|
|
|
NM_022725.4(FANCF):c.581A>G (p.Glu194Gly)
|
rs1274843959
|
|
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)
|
rs1479457172
|
|
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
|
|
|
NM_022725.4(FANCF):c.736del (p.Glu246fs)
|
|
|
NM_022725.4(FANCF):c.792dup (p.Ser265Ter)
|
|
|
NM_022725.4(FANCF):c.84del (p.Ala29fs)
|
rs1275961745
|
|
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)
|
|
|
NM_022725.4(FANCF):c.943dup (p.Cys315fs)
|
rs1590540654
|
|
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu)
|
rs781049663
|
|
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser)
|
rs1060502796
|
|
NM_032444.4(SLX4):c.1331A>C (p.Glu444Ala)
|
rs2040681362
|
|
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp)
|
rs372264472
|
|
NM_032444.4(SLX4):c.1699C>T (p.Pro567Ser)
|
rs765739226
|
|
NM_032444.4(SLX4):c.3209C>T (p.Ser1070Phe)
|
rs2040570774
|
|
NM_032444.4(SLX4):c.352C>G (p.Pro118Ala)
|
rs1264184614
|
|
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
|
rs142205392
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter)
|
rs1237224833
|
|
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)
|
rs199592185
|
|
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs)
|
rs2040460653
|
|
NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile)
|
rs2040449660
|
|
NM_032444.4(SLX4):c.5470C>T (p.Gln1824Ter)
|
rs1037474114
|
|
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly)
|
rs79842542
|
|
NM_033084.6(FANCD2):c.2609_2613del
|
|
|
NM_033084.6(FANCD2):c.3107_3108del
|
rs2125059924
|
|