NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)
|
rs9282681
|
0.05868
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
NM_022725.4(FANCF):c.825G>A (p.Leu275=)
|
rs36045913
|
0.01879
|
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)
|
rs61761068
|
0.00859
|
NM_004628.5(XPC):c.1001C>A (p.Pro334His)
|
rs74737358
|
0.00806
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)
|
rs104894103
|
0.00044
|
NM_005732.4(RAD50):c.687del (p.Ser229fs)
|
rs760146707
|
0.00042
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_000380.4(XPA):c.682C>T (p.Arg228Ter)
|
rs104894132
|
0.00033
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)
|
rs56307355
|
0.00028
|
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
|
rs185142838
|
0.00025
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000136.3(FANCC):c.355_358del (p.Ser119fs)
|
rs750003253
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)
|
rs753325454
|
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_000122.2(ERCC3):c.1757del (p.Gln586fs)
|
rs753182861
|
0.00012
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)
|
rs140404896
|
0.00011
|
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)
|
rs376556895
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)
|
rs368728266
|
0.00009
|
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_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_000082.4(ERCC8):c.173+1119G>C
|
rs1043679457
|
0.00006
|
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)
|
rs121434326
|
0.00006
|
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)
|
rs587778281
|
0.00006
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
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.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)
|
rs121913020
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_004628.5(XPC):c.2251-1G>C
|
rs754673606
|
0.00006
|
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs)
|
rs587782895
|
0.00006
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
0.00005
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_000400.4(ERCC2):c.1867dup (p.Val623fs)
|
rs756630156
|
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_004628.5(XPC):c.877C>T (p.Arg293Ter)
|
rs373519125
|
0.00005
|
NM_020937.4(FANCM):c.1491dup (p.Gln498fs)
|
rs797045116
|
0.00005
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)
|
rs143367518
|
0.00004
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val)
|
rs774078839
|
0.00004
|
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr)
|
rs121434576
|
0.00004
|
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)
|
rs121917904
|
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_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_000380.4(XPA):c.555+8A>G
|
rs756967163
|
0.00004
|
NM_000400.4(ERCC2):c.183+2T>A
|
rs201127596
|
0.00004
|
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)
|
rs121913024
|
0.00004
|
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)
|
rs121913021
|
0.00004
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
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_004628.5(XPC):c.1243C>T (p.Arg415Ter)
|
rs757958943
|
0.00004
|
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)
|
rs374117852
|
0.00004
|
NM_004629.2(FANCG):c.832dup (p.Ala278fs)
|
rs1290655946
|
0.00004
|
NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter)
|
rs778555849
|
0.00004
|
NM_005732.4(RAD50):c.3G>A (p.Met1Ile)
|
rs377260382
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
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_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
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_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000082.4(ERCC8):c.650del (p.Arg217fs)
|
rs1561502158
|
0.00003
|
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val)
|
rs121434571
|
0.00003
|
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)
|
rs121434570
|
0.00003
|
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)
|
rs376526037
|
0.00003
|
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)
|
rs1026438103
|
0.00003
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
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_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000380.4(XPA):c.331G>T (p.Glu111Ter)
|
rs769255883
|
0.00003
|
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)
|
rs41556519
|
0.00003
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
NM_001033855.3(DCLRE1C):c.109+1G>T
|
rs143144732
|
0.00003
|
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)
|
rs121908156
|
0.00003
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
NM_004628.5(XPC):c.622-2A>C
|
rs201940931
|
0.00003
|
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)
|
rs121912628
|
0.00003
|
NM_006502.3(POLH):c.1078dup (p.Asp360fs)
|
rs1277794845
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
|
rs80357914
|
0.00003
|
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
|
rs121434379
|
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_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_000107.3(DDB2):c.818G>A (p.Arg273His)
|
rs121434640
|
0.00002
|
NM_000124.4(ERCC6):c.2287-2A>G
|
rs754978734
|
0.00002
|
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)
|
rs772801089
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)
|
rs751838040
|
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_000135.4(FANCA):c.3746T>C (p.Leu1249Pro)
|
rs753316789
|
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_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000380.4(XPA):c.555G>C (p.Gln185His)
|
rs746617574
|
0.00002
|
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)
|
rs104894133
|
0.00002
|
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter)
|
rs199643821
|
0.00002
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
NM_000400.4(ERCC2):c.2005del (p.Arg669fs)
|
rs1233791234
|
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_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
|
rs773847168
|
0.00002
|
NM_001195248.2(APTX):c.596del (p.Arg199fs)
|
rs770007531
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)
|
rs1450238352
|
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_005732.4(RAD50):c.2014C>T (p.Gln672Ter)
|
rs142947311
|
0.00002
|
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter)
|
rs772468452
|
0.00002
|
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter)
|
rs368980595
|
0.00002
|
NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter)
|
rs876658770
|
0.00002
|
NM_005732.4(RAD50):c.832C>T (p.Arg278Ter)
|
rs766315644
|
0.00002
|
NM_006502.3(POLH):c.490G>T (p.Glu164Ter)
|
rs767433001
|
0.00002
|
NM_006502.3(POLH):c.672_673insT (p.Leu225fs)
|
rs772778835
|
0.00002
|
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)
|
rs553512431
|
0.00002
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)
|
rs119467003
|
0.00002
|
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter)
|
rs1011870043
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
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_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)
|
rs121434364
|
0.00002
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)
|
rs80358695
|
0.00001
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
NM_000082.4(ERCC8):c.1042-1G>A
|
rs897535441
|
0.00001
|
NM_000082.4(ERCC8):c.1042-2A>G
|
rs372237310
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)
|
rs1468231556
|
0.00001
|
NM_000082.4(ERCC8):c.618-1G>A
|
rs201464610
|
0.00001
|
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)
|
rs770499406
|
0.00001
|
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)
|
rs370657735
|
0.00001
|
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter)
|
rs121913048
|
0.00001
|
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)
|
rs121434573
|
0.00001
|
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter)
|
rs121434572
|
0.00001
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp)
|
rs202080674
|
0.00001
|
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter)
|
rs780538788
|
0.00001
|
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)
|
rs121917903
|
0.00001
|
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)
|
rs751448793
|
0.00001
|
NM_000124.4(ERCC6):c.2830-2A>G
|
rs373227647
|
0.00001
|
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)
|
rs786205171
|
0.00001
|
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)
|
rs765825423
|
0.00001
|
NM_000124.4(ERCC6):c.543+4del
|
rs527236039
|
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.1153C>T (p.His385Tyr)
|
rs757760966
|
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.1776+1G>A
|
rs756140957
|
0.00001
|
NM_000135.4(FANCA):c.184del (p.Glu63fs)
|
rs1260966020
|
0.00001
|
NM_000135.4(FANCA):c.190-1G>C
|
rs765277254
|
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.2051T>C (p.Leu684Pro)
|
rs762526878
|
0.00001
|
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)
|
rs2039278551
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.2348G>T (p.Gly783Val)
|
rs935069258
|
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.2601+1G>T
|
rs1188581065
|
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.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)
|
rs1439817346
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.3766-2A>G
|
rs1219402916
|
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.596G>C (p.Ser199Thr)
|
rs764157478
|
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.166-2A>G
|
rs587777945
|
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.844-1G>C
|
rs774209201
|
0.00001
|
NM_000136.3(FANCC):c.916_917del (p.Asp306fs)
|
rs779806106
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)
|
rs1553408388
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000380.4(XPA):c.390-1G>C
|
rs750218942
|
0.00001
|
NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr)
|
rs1411740455
|
0.00001
|
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)
|
rs778479250
|
0.00001
|
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)
|
rs752510317
|
0.00001
|
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)
|
rs121913023
|
0.00001
|
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)
|
rs758439420
|
0.00001
|
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg)
|
rs121913022
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
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.1948-6C>A
|
rs779350241
|
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.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)
|
rs764507146
|
0.00001
|
NM_001018115.3(FANCD2):c.3777+1G>T
|
rs1434069831
|
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.491+1G>A
|
rs943009372
|
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.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
0.00001
|
NM_001033855.3(DCLRE1C):c.464+1G>A
|
rs1162344514
|
0.00001
|
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)
|
rs1317003987
|
0.00001
|
NM_001113378.2(FANCI):c.157+78G>A
|
rs963339667
|
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.3006+3A>G
|
rs1294973649
|
0.00001
|
NM_001113378.2(FANCI):c.3058+1G>A
|
rs149464307
|
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_001195248.2(APTX):c.617C>T (p.Pro206Leu)
|
rs121908131
|
0.00001
|
NM_001195248.2(APTX):c.689dup (p.Glu232fs)
|
rs587776593
|
0.00001
|
NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter)
|
rs867518898
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)
|
rs1394437421
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
NM_002485.5(NBN):c.1716dup (p.Glu573fs)
|
rs1060503483
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)
|
rs779098734
|
0.00001
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)
|
rs121965088
|
0.00001
|
NM_004628.5(XPC):c.2420+2T>C
|
rs778987248
|
0.00001
|
NM_004628.5(XPC):c.658C>T (p.Arg220Ter)
|
rs745679643
|
0.00001
|
NM_004628.5(XPC):c.739C>T (p.Arg247Ter)
|
rs764321665
|
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.976G>T (p.Glu326Ter)
|
rs754484649
|
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_005236.3(ERCC4):c.706T>C (p.Cys236Arg)
|
rs397509403
|
0.00001
|
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)
|
rs1247689593
|
0.00001
|
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)
|
rs373428259
|
0.00001
|
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter)
|
rs587781904
|
0.00001
|
NM_005732.4(RAD50):c.213+1G>T
|
rs765484171
|
0.00001
|
NM_005732.4(RAD50):c.2165_2166insT (p.Lys722fs)
|
rs587781454
|
0.00001
|
NM_005732.4(RAD50):c.2517dup (p.Asp840fs)
|
rs786201897
|
0.00001
|
NM_005732.4(RAD50):c.2770C>T (p.Gln924Ter)
|
rs1554099320
|
0.00001
|
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter)
|
rs750586158
|
0.00001
|
NM_005732.4(RAD50):c.3655G>T (p.Glu1219Ter)
|
rs587781569
|
0.00001
|
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr)
|
rs121912629
|
0.00001
|
NM_005732.4(RAD50):c.552-1G>A
|
rs1236278956
|
0.00001
|
NM_005732.4(RAD50):c.94dup (p.Thr32fs)
|
rs587781625
|
0.00001
|
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr)
|
rs121908565
|
0.00001
|
NM_006502.3(POLH):c.207del (p.Lys70fs)
|
rs1176350430
|
0.00001
|
NM_006502.3(POLH):c.764+1G>A
|
rs772570523
|
0.00001
|
NM_006502.3(POLH):c.907C>T (p.Arg303Ter)
|
rs759607901
|
0.00001
|
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter)
|
rs397508838
|
0.00001
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)
|
rs121434376
|
0.00001
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
0.00001
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val)
|
rs1564482221
|
0.00001
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
0.00001
|
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)
|
rs29001665
|
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_020894.4(UVSSA):c.367A>T (p.Lys123Ter)
|
rs387907163
|
0.00001
|
NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg)
|
rs387907164
|
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.1510-1G>A
|
rs772678337
|
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_022725.4(FANCF):c.2T>G (p.Met1Arg)
|
rs745495865
|
0.00001
|
NM_023077.3(COA7):c.410A>G (p.Tyr137Cys)
|
rs961876891
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.395del (p.Val132fs)
|
rs180177085
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
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.206-2A>G
|
rs786203700
|
0.00001
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
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.1163+2T>A
|
rs773642409
|
0.00001
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
NM_032444.4(SLX4):c.1538G>A (p.Trp513Ter)
|
rs761314760
|
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_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_182649.2(PCNA):c.683G>T (p.Ser228Ile)
|
rs369958038
|
0.00001
|
FANCB, 3314-BP DEL
|
|
|
FANCC, 250-BP DEL
|
|
|
GRCh37/hg19 10p13(chr10:14983910-15065646)
|
|
|
GRCh37/hg19 16q24.3(chr16:89620873-89881041)
|
|
|
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
|
|
|
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
|
|
|
GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1
|
|
|
MLH1, EX16DEL
|
|
|
MSH6, 4-BP DEL, NT3609
|
|
|
Multiple alleles
|
|
|
NC_000002.11:g.(?_58386900)_(58459267_?)del
|
|
|
NC_000002.11:g.(?_58425719)_(58433394_?)del
|
|
|
NC_000002.11:g.(?_58459169)_(58468448_?)del
|
|
|
NC_000002.11:g.(?_58468333)_(58468448_?)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)_(10074666_?)del
|
|
|
NC_000003.11:g.(?_10070342)_(10094191_?)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.(?_10105466)_(10107188_?)del
|
|
|
NC_000003.11:g.(?_10108063)_(10114567_?)del
|
|
|
NC_000003.11:g.(?_10127476)_(10136978_?)del
|
|
|
NC_000003.11:g.(?_10130113)_(10133956_?)del
|
|
|
NC_000003.12:g.(10028722_10032831)_(10049506_10052386)del
|
|
|
NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup
|
|
|
NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del
|
|
|
NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del
|
|
|
NC_000003.12:g.(?_10028648)_(10043874_?)del
|
|
|
NC_000003.12:g.(?_10028648)_(10046733_?)del
|
|
|
NC_000003.12:g.(?_10064723)_(10146642_?)del
|
|
|
NC_000005.9:g.60164820_60244992del
|
|
|
NC_000008.10:g.(?_90955471)_(90976745_?)del
|
|
|
NC_000008.10:g.(?_90958358)_(90960130_?)del
|
|
|
NC_000008.10:g.(?_90960042)_(90976745_?)del
|
|
|
NC_000008.10:g.(?_90982582)_(90990561_?)del
|
|
|
NC_000008.10:g.(?_90990438)_(90990561_?)del
|
|
|
NC_000008.10:g.(?_90996743)_(90996789_?)del
|
|
|
NC_000008.11:g.(?_89921080)_(89984561_?)del
|
|
|
NC_000008.11:g.(?_89935572)_(89984571_?)del
|
|
|
NC_000008.11:g.(?_89935576)_(89981529_?)del
|
|
|
NC_000008.11:g.(?_89935582)_(89984561_?)del
|
|
|
NC_000008.11:g.(?_89978210)_(89984571_?)del
|
|
|
NC_000008.11:g.(?_89980724)_(89984571_?)del
|
|
|
NC_000008.11:g.(?_89980734)_(89984671_?)del
|
|
|
NC_000008.11:g.89955556del
|
rs2129722387
|
|
NC_000009.11:g.(?_135201691)_(135210134_?)del
|
|
|
NC_000009.11:g.(?_97861619)_(97869538_?)del
|
|
|
NC_000009.11:g.(?_97863979)_(97934439_?)del
|
|
|
NC_000009.11:g.(?_97873735)_(97897794_?)del
|
|
|
NC_000009.11:g.(?_97876901)_(97879682_?)del
|
|
|
NC_000009.11:g.(?_97897618)_(97912379_?)del
|
|
|
NC_000009.11:g.(?_98002921)_(98011661_?)del
|
|
|
NC_000009.11:g.(?_98009704)_(98009808_?)del
|
|
|
NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del
|
|
|
NC_000009.12:g.(95240744_95247431)_(95317709_?)del
|
|
|
NC_000009.12:g.(?_32973498)_(33001604_?)del
|
|
|
NC_000009.12:g.(?_35076714)_(35077111_?)del
|
|
|
NC_000009.12:g.(?_95101700)_(95508367_?)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.(?_14946600)_(14951339_?)del
|
|
|
NC_000010.10:g.(?_14953179)_(14961841_?)del
|
|
|
NC_000010.10:g.(?_14976692)_(14996009_?)del
|
|
|
NC_000010.10:g.(?_14977442)_(14996029_?)del
|
|
|
NC_000010.10:g.(?_14977452)_(14978602_?)del
|
|
|
NC_000010.10:g.(?_14977452)_(14996009_?)del
|
|
|
NC_000010.10:g.(?_14978527)_(14978602_?)del
|
|
|
NC_000010.10:g.(?_14981789)_(14996029_?)del
|
|
|
NC_000010.10:g.(?_14981799)_(14996009_?)del
|
|
|
NC_000010.10:g.(?_14989514)_(14996441_?)del
|
|
|
NC_000010.10:g.(?_14991015)_(14991106_?)del
|
|
|
NC_000010.10:g.(?_14995891)_(14996441_?)del
|
|
|
NC_000010.10:g.14983601_15065700del
|
|
|
NC_000010.11:g.(?_14935443)_(14936613_?)del
|
|
|
NC_000010.11:g.(?_14939800)_(14945199_?)del
|
|
|
NC_000010.11:g.(?_14945085)_(14945209_?)del
|
|
|
NC_000010.11:g.(?_14945085)_(14954030_?)del
|
|
|
NC_000010.11:g.(?_14945095)_(14945199_?)del
|
|
|
NC_000010.11:g.(?_14945095)_(14954442_?)del
|
|
|
NC_000010.11:g.14935443_14954030del
|
|
|
NC_000011.9:g.(?_22644078)_(22647388_?)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_000014.9:g.(?_45136032)_(45200008_?)del
|
|
|
NC_000014.9:g.(?_45166940)_(45167173_?)del
|
|
|
NC_000015.10:g.(?_89247629)_(89317131_?)del
|
|
|
NC_000015.9:g.(?_89790873)_(89876991_?)del
|
|
|
NC_000015.9:g.(?_89801915)_(89802027_?)del
|
|
|
NC_000015.9:g.(?_89858493)_(89860078_?)del
|
|
|
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
|
|
|
NC_000016.10:g.(89739290_89739477)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89740100_89740803)_(89740867_89742799)del
|
|
|
NC_000016.10:g.(89740100_89740803)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89740867_89742799)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89740867_89742799)_(89816657_?)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89748768_89749729)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89767238_89769836)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89816657_?)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89752223_89758576)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89748768_89749729)_(89758706_89761948)del
|
|
|
NC_000016.10:g.(89749903_89752137)_(89792548_89795905)del
|
|
|
NC_000016.10:g.(89749903_89752137)_(89816657_?)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89762023_89764889)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89767238_89769836)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89773385_89775741)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89816657_?)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89773385_89775741)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89770635_89771677)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89773385_89775741)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89765067_89767140)_(89803342_89805279)del
|
|
|
NC_000016.10:g.(89767238_89769836)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89767238_89769836)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89792548_89795905)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89784965_89791402)dup
|
|
|
NC_000016.10:g.(89773385_89775741)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89816657_?)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89816657_?)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89782919_89783006)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89783103_89784853)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89792069_89792470)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89792548_89795905)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89816657_?)del
|
|
|
NC_000016.10:g.(89791537_89791926)_(89792069_89792470)del
|
|
|
NC_000016.10:g.(89791537_89791926)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89792069_89792470)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89792069_89792470)_(89816657_?)del
|
|
|
NC_000016.10:g.(89792548_89795905)_(89803342_89805279)del
|
|
|
NC_000016.10:g.(89792548_89795905)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89792548_89795905)_(89816657_?)del
|
|
|
NC_000016.10:g.(89799639_89803258)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89803342_89805279)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89803342_89805279)_(89816657_?)del
|
|
|
NC_000016.10:g.(89805279_89805393)_(89816657_?)del
|
|
|
NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del
|
|
|
NC_000016.10:g.(89805393_89808293)_(89816657_?)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89810803_89810928)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89815987_89816536)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89816657_?)del
|
|
|
NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del
|
|
|
NC_000016.10:g.(89814614_89815876)_(89816657_?)del
|
|
|
NC_000016.10:g.(89815987_89816536)_(89816657_?)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.(?_89737551)_(89740867_89742799)del
|
|
|
NC_000016.10:g.(?_89737551)_(89752222_89758576)del
|
|
|
NC_000016.10:g.(?_89737551)_(89752223_89758576)del
|
|
|
NC_000016.10:g.(?_89737551)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(?_89737551)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(?_89737551)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(?_89737551)_(89814614_89815876)del
|
|
|
NC_000016.10:g.(?_89737551)_(89816657_?)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.88317551_88325754del
|
|
|
NC_000016.10:g.88322074_88332073del
|
|
|
NC_000016.10:g.88334974_88341919del
|
|
|
NC_000016.10:g.88335235_88340023del
|
|
|
NC_000016.10:g.88341728_88343606del
|
|
|
NC_000016.10:g.88342678_88348626del
|
|
|
NC_000016.10:g.89746689dup
|
|
|
NC_000016.10:g.89748659_89762022del
|
|
|
NC_000016.10:g.89752141_89762025del
|
|
|
NC_000016.10:g.89754008_89816657del
|
|
|
NC_000016.10:g.89807755_89816658del
|
|
|
NC_000016.9:g.(89816311_89818545)_(89871801_89874701)del
|
|
|
NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del
|
|
|
NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
|
|
|
NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
|
|
|
NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
|
|
|
NC_000016.9:g.(89877480_89880927)_(89883066_?)del
|
|
|
NC_000016.9:g.(?_14020398)_(14022112_?)del
|
|
|
NC_000016.9:g.(?_14038570)_(14038702_?)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.(?_89712474)_(89866066_?)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)_(89825123_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89833665_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89851382_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89883024_?)del
|
|
|
NC_000016.9:g.(?_89807202)_(89883024_?)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.(?_89811347)_(89849530_?)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.(?_89815049)_(89883033_?)del
|
|
|
NC_000016.9:g.(?_89816056)_(89816320_?)del
|
|
|
NC_000016.9:g.(?_89816056)_(89849520_?)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.(?_89824975)_(89828440_?)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.(?_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)_(89849520_?)del
|
|
|
NC_000016.9:g.(?_89831292)_(89833651_?)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.(?_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)_(89851392_?)del
|
|
|
NC_000016.9:g.(?_89839669)_(89866056_?)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.(?_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)_(89866066_?)del
|
|
|
NC_000016.9:g.(?_89849257)_(89871810_?)del
|
|
|
NC_000016.9:g.(?_89849257)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89857801)_(89858965_?)del
|
|
|
NC_000016.9:g.(?_89857801)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89862294)_(89883023_?)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.(?_89869657)_(89871810_?)del
|
|
|
NC_000016.9:g.(?_89871678)_(89877489_?)del
|
|
|
NC_000016.9:g.(?_89874692)_(89881031_?)del
|
|
|
NC_000016.9:g.(?_89877105)_(89877489_?)del
|
|
|
NC_000016.9:g.(?_89880908)_(89883023_?)del
|
|
|
NC_000016.9:g.(?_89880918)_(89881031_?)del
|
|
|
NC_000016.9:g.88172538_88337600del
|
|
|
NC_000016.9:g.88224066_88408991del
|
|
|
NC_000016.9:g.88257445_88409236del
|
|
|
NC_000016.9:g.89839142_89867355del
|
|
|
NC_000016.9:g.89840944_89876535del
|
|
|
NC_000016.9:g.89840966_89866228del
|
|
|
NC_000016.9:g.89844985_89869211del
|
|
|
NC_000016.9:g.89857046_89867362del
|
|
|
NC_000016.9:g.89863188_89878500del
|
|
|
NC_000017.10:g.(?_56769920)_(56811662_?)del
|
|
|
NC_000017.10:g.(?_56769986)_(56774230_?)del
|
|
|
NC_000017.10:g.(?_56769999)_(56787357_?)del
|
|
|
NC_000017.10:g.(?_56772282)_(56772560_?)del
|
|
|
NC_000017.10:g.(?_56774044)_(56774230_?)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.(?_56798097)_(56798183_?)del
|
|
|
NC_000017.10:g.(?_56798097)_(56801482_?)del
|
|
|
NC_000017.10:g.(?_59760657)_(59761511_?)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.(?_59857612)_(59858376_?)del
|
|
|
NC_000017.10:g.(?_59858191)_(59858864_?)del
|
|
|
NC_000017.10:g.(?_59861621)_(59861795_?)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.(?_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_000017.11: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)_(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.(?_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_000023.10:g.(?_14861689)_(14891184_?)del
|
|
|
NC_000023.10:g.(?_14875974)_(14891184_?)del
|
|
|
NC_012920.1:m.8993T>C
|
rs199476133
|
|
NG_007276.1:g.(19287_22502)_(23634_24320)del
|
|
|
NG_007276.1:g.(?_5047)_(19287_22502)del
|
|
|
NG_007406.1:g.(5249_8228)_(17155_19960)del
|
|
|
NG_011706.1:g.10587_63081del
|
|
|
NG_011706.1:g.13291_71928del
|
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)
|
rs80359271
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)
|
rs863224827
|
|
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)
|
rs1593903422
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
NM_000059.4(BRCA2):c.486del (p.Ser163fs)
|
rs587780653
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)
|
rs1566232471
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.631+1G>A
|
rs81002897
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.658dup (p.Val220fs)
|
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7464_7465insTA (p.Asp2489Ter)
|
rs886038169
|
|
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)
|
rs80358979
|
|
NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer)
|
rs1555286294
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter)
|
rs80359070
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8732C>A (p.Ala2911Glu)
|
rs80359130
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000059.4(BRCA2):c.9693del (p.Leu3232fs)
|
rs1566260827
|
|
NM_000082.3:c.844_1122del
|
|
|
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys)
|
rs281875221
|
|
NM_000082.4(ERCC8):c.141del (p.Asn47fs)
|
rs786205176
|
|
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)
|
rs1749618632
|
|
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)
|
rs1749617646
|
|
NM_000082.4(ERCC8):c.275+1G>A
|
|
|
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)
|
rs1131691783
|
|
NM_000082.4(ERCC8):c.313_314del (p.Val105fs)
|
rs1404477615
|
|
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)
|
rs1580023012
|
|
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)
|
rs774542633
|
|
NM_000082.4(ERCC8):c.481+1G>C
|
rs1580007152
|
|
NM_000082.4(ERCC8):c.551-1G>A
|
rs1554073316
|
|
NM_000082.4(ERCC8):c.78-2A>T
|
rs748379243
|
|
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)
|
rs121434323
|
|
NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]
|
|
|
NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter)
|
rs781655324
|
|
NM_000107.3(DDB2):c.730A>G (p.Lys244Glu)
|
rs121434639
|
|
NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr)
|
rs121434642
|
|
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter)
|
rs121434641
|
|
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)
|
rs121913047
|
|
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
|
|
|
NM_000122.2(ERCC3):c.2218-6C>A
|
rs200733704
|
|
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)
|
rs121913045
|
|
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro)
|
rs121913046
|
|
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)
|
rs1404293670
|
|
NM_000122.2(ERCC3):c.471+1G>A
|
rs1558964705
|
|
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)
|
rs138385061
|
|
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer)
|
rs866379139
|
|
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs)
|
rs786200919
|
|
NM_000123.4(ERCC5):c.1494del (p.Asp499fs)
|
rs786200920
|
|
NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter)
|
rs1882701423
|
|
NM_000123.4(ERCC5):c.1975del (p.Ser659fs)
|
rs1882806435
|
|
NM_000123.4(ERCC5):c.215C>A (p.Pro72His)
|
rs121434574
|
|
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)
|
rs1244074570
|
|
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)
|
rs777455688
|
|
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro)
|
rs121434575
|
|
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs)
|
rs779078202
|
|
NM_000123.4(ERCC5):c.2751del (p.Lys917fs)
|
rs752661599
|
|
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs)
|
rs760232640
|
|
NM_000123.4(ERCC5):c.2775del (p.Gly926fs)
|
rs2140538834
|
|
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys)
|
rs267607280
|
|
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter)
|
rs121434577
|
|
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp)
|
rs267607281
|
|
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs)
|
rs1595382501
|
|
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs)
|
rs1882641004
|
|
NM_000124.3(ERCC6):c.1684_1705del
|
|
|
NM_000124.4(ERCC6):c.1004del (p.Leu335fs)
|
rs1554793305
|
|
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)
|
rs1198241866
|
|
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)
|
rs1590474873
|
|
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs)
|
rs786205166
|
|
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)
|
rs121917902
|
|
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)
|
rs786205168
|
|
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)
|
rs121917900
|
|
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs)
|
rs786205167
|
|
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)
|
rs767247987
|
|
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs)
|
rs2132552521
|
|
NM_000124.4(ERCC6):c.1999del (p.Thr667fs)
|
rs786205169
|
|
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)
|
rs751292948
|
|
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)
|
rs1439211546
|
|
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)
|
|
|
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)
|
rs1590413260
|
|
NM_000124.4(ERCC6):c.22del (p.His8fs)
|
|
|
NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)
|
|
|
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)
|
rs1554787509
|
|
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro)
|
rs121917905
|
|
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)
|
rs786205170
|
|
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)
|
rs786205172
|
|
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs)
|
rs758341467
|
|
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)
|
rs786205174
|
|
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter)
|
rs1564725764
|
|
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs)
|
rs786205175
|
|
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter)
|
rs2132621608
|
|
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs)
|
rs797045562
|
|
NM_000124.4(ERCC6):c.972dup (p.Glu325fs)
|
rs387906262
|
|
NM_000124.4(ERCC6):c.[1727C>G;1834C>T]
|
|
|
NM_000135.2(FANCA):c.(?_-1)_522+?del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_3066+281del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_523-663del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_523-818del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_523-828del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_597-800del
|
|
|
NM_000135.2(FANCA):c.1006+539_3066+898del
|
|
|
NM_000135.2(FANCA):c.1006+727_1626+1288del
|
|
|
NM_000135.2(FANCA):c.1007-10_2504+209del
|
|
|
NM_000135.2(FANCA):c.1007_3066del
|
|
|
NM_000135.2(FANCA):c.1359+1138_1900+1140del
|
|
|
NM_000135.2(FANCA):c.1470+801_(*1050_?)del
|
|
|
NM_000135.2(FANCA):c.1471-191_1626+740del
|
|
|
NM_000135.2(FANCA):c.1471-275_1626+656del
|
|
|
NM_000135.2(FANCA):c.1626+1433_3349-564del
|
|
|
NM_000135.2(FANCA):c.1626+588_2778+888del
|
|
|
NM_000135.2(FANCA):c.1626+637_2778+1111del
|
|
|
NM_000135.2(FANCA):c.1716-215_2779-1067del
|
|
|
NM_000135.2(FANCA):c.1827-835_2779-1050del
|
|
|
NM_000135.2(FANCA):c.1901-1154_2779-889del
|
|
|
NM_000135.2(FANCA):c.2151+328_2778+1066del
|
|
|
NM_000135.2(FANCA):c.2505-976_(*1050_?)del
|
|
|
NM_000135.2(FANCA):c.2779_2852del
|
rs2038967116
|
|
NM_000135.2(FANCA):c.284del
|
rs2040861554
|
|
NM_000135.2(FANCA):c.2852+553_(*1050_?)del
|
|
|
NM_000135.2(FANCA):c.2852+734_3067-376del
|
|
|
NM_000135.2(FANCA):c.2853-1360_2982-2296del
|
|
|
NM_000135.2(FANCA):c.2853-382_*1312del
|
|
|
NM_000135.2(FANCA):c.2981+611_*1153del
|
|
|
NM_000135.2(FANCA):c.2982-1580_3067-209del
|
|
|
NM_000135.2:c.1471-490_3627-655del
|
|
|
NM_000135.2:c.1471_1626del
|
|
|
NM_000135.2:c.1627_1900del
|
|
|
NM_000135.2:c.522+715_2852+656del
|
|
|
NM_000135.4(FANCA):c.-1_2del (p.Met1del)
|
rs2143732272
|
|
NM_000135.4(FANCA):c.1006+2_1006+5del
|
rs2040229450
|
|
NM_000135.4(FANCA):c.1007-1G>A
|
|
|
NM_000135.4(FANCA):c.1007-1del
|
rs2040110823
|
|
NM_000135.4(FANCA):c.1007-2A>G
|
rs2040110878
|
|
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.1073T>G (p.Leu358Arg)
|
rs1045404649
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1084-1G>A
|
rs2040094761
|
|
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro)
|
rs2040094645
|
|
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.1159C>T (p.Gln387Ter)
|
|
|
NM_000135.4(FANCA):c.1164_1165del (p.Arg388fs)
|
rs2040091643
|
|
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs)
|
rs2143529729
|
|
NM_000135.4(FANCA):c.118dup (p.Ala40fs)
|
rs2143724113
|
|
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs)
|
rs2040090895
|
|
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.1220T>G (p.Leu407Arg)
|
rs2040089994
|
|
NM_000135.4(FANCA):c.1226-1G>C
|
rs1417768931
|
|
NM_000135.4(FANCA):c.1226-6_1226-2del
|
rs2040076730
|
|
NM_000135.4(FANCA):c.1259del (p.Glu420fs)
|
|
|
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)
|
rs774026652
|
|
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.1343A>G (p.Tyr448Cys)
|
rs769203048
|
|
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs)
|
rs2143525701
|
|
NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter)
|
rs1199670660
|
|
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.1430del (p.Leu477fs)
|
rs2039845956
|
|
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.1470+1G>T
|
rs1555556175
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
NM_000135.4(FANCA):c.1470G>A (p.Gln490=)
|
rs2039844218
|
|
NM_000135.4(FANCA):c.1471-1G>T
|
rs2039777078
|
|
NM_000135.4(FANCA):c.1472_1566+1del
|
rs1567628967
|
|
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
NM_000135.4(FANCA):c.14G>A (p.Trp5Ter)
|
rs2041143697
|
|
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
|
|
|
NM_000135.4(FANCA):c.1508dup (p.Tyr503Ter)
|
rs2039775751
|
|
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
|
|
|
NM_000135.4(FANCA):c.1566+3A>C
|
rs2039773398
|
|
NM_000135.4(FANCA):c.1567-1G>C
|
rs1464032361
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
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.15G>A (p.Trp5Ter)
|
|
|
NM_000135.4(FANCA):c.1606del (p.Ser536fs)
|
rs587776570
|
|
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.1626+967_2015-679del
|
|
|
NM_000135.4(FANCA):c.1627-1G>T
|
rs2039644862
|
|
NM_000135.4(FANCA):c.1630dup (p.His544fs)
|
rs1598129626
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
NM_000135.4(FANCA):c.1703del (p.Val568fs)
|
rs2039642419
|
|
NM_000135.4(FANCA):c.1709_1715+4del
|
rs2039641869
|
|
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)
|
rs2041096125
|
|
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)
|
|
|
NM_000135.4(FANCA):c.173dup (p.Asn58fs)
|
rs2041095962
|
|
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
|
|
|
NM_000135.4(FANCA):c.1750del (p.Leu584fs)
|
rs2143424348
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1777-3_1783del
|
rs2039605605
|
|
NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn)
|
rs2039605345
|
|
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.182_184delinsGG (p.Leu61fs)
|
|
|
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.190-146_284-1082del
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.190-2A>G
|
|
|
NM_000135.4(FANCA):c.190-494_597-592del
|
|
|
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.1979T>C (p.Leu660Pro)
|
rs1567621042
|
|
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+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2014+1del
|
rs2143366415
|
|
NM_000135.4(FANCA):c.2015-1G>T
|
rs1555548632
|
|
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.2054G>C (p.Arg685Thr)
|
rs1183781456
|
|
NM_000135.4(FANCA):c.2066del (p.Gly689fs)
|
rs2039334639
|
|
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer)
|
rs2143711627
|
|
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.2121del (p.Asn707fs)
|
rs2039331837
|
|
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)
|
rs781436006
|
|
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
|
|
|
NM_000135.4(FANCA):c.2151+1G>A
|
rs1555548428
|
|
NM_000135.4(FANCA):c.2151+2_2151+3insG
|
rs2039330307
|
|
NM_000135.4(FANCA):c.2151+328_2778+1085del
|
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro)
|
rs2039290343
|
|
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.2189T>C (p.Leu730Pro)
|
rs2039289431
|
|
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.2222+1G>C
|
rs775388912
|
|
NM_000135.4(FANCA):c.2222+1G>T
|
rs775388912
|
|
NM_000135.4(FANCA):c.2223-3C>G
|
rs2039278966
|
|
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys)
|
rs1239354393
|
|
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.2265dup (p.Arg756fs)
|
rs2143336220
|
|
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu)
|
rs2039276663
|
|
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.2316+1G>T
|
rs2039275333
|
|
NM_000135.4(FANCA):c.2317-2A>G
|
rs1567618264
|
|
NM_000135.4(FANCA):c.2327dup (p.Ser777fs)
|
rs2039267300
|
|
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)
|
rs2041026343
|
|
NM_000135.4(FANCA):c.2351dup (p.Leu784fs)
|
rs2039266434
|
|
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro)
|
rs1036897594
|
|
NM_000135.4(FANCA):c.2368del (p.His790fs)
|
rs2143333169
|
|
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.2450T>C (p.Leu817Pro)
|
rs1307805145
|
|
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
|
|
|
NM_000135.4(FANCA):c.2482dup (p.Asp828fs)
|
rs2143331597
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)
|
rs2039260856
|
|
NM_000135.4(FANCA):c.2504+134A>G
|
rs2039254077
|
|
NM_000135.4(FANCA):c.2504+2T>C
|
rs2039260502
|
|
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg)
|
rs1216922486
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp)
|
rs374030577
|
|
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.2533_2536del (p.Leu845fs)
|
rs763378933
|
|
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.2571C>A (p.Cys857Ter)
|
|
|
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.2602T>G (p.Phe868Val)
|
rs1555545588
|
|
NM_000135.4(FANCA):c.2604_2609del
|
|
|
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)
|
rs1017086086
|
|
NM_000135.4(FANCA):c.2636C>T (p.Ala879Val)
|
rs375919830
|
|
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.2674del (p.Ser892fs)
|
rs2039077507
|
|
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter)
|
rs2039077331
|
|
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter)
|
rs2143288874
|
|
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.2723T>C (p.Leu908Pro)
|
rs2039075542
|
|
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)
|
rs878853663
|
|
NM_000135.4(FANCA):c.2736dup (p.His913fs)
|
rs2039074823
|
|
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.275C>A (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)
|
rs1183559927
|
|
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+1G>T
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg)
|
rs2038969261
|
|
NM_000135.4(FANCA):c.279del (p.Phe93fs)
|
|
|
NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys)
|
rs2038968872
|
|
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.2827_2845dup (p.Thr949delinsSerTer)
|
rs2038967521
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1del
|
rs2041024132
|
|
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+1del
|
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter)
|
rs2038844790
|
|
NM_000135.4(FANCA):c.285_522+1del
|
rs2040843894
|
|
NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter)
|
rs2038844292
|
|
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.2982-192A>G
|
rs2038628210
|
|
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)
|
rs769479800
|
|
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.3021_3027del (p.Phe1008fs)
|
rs2038617702
|
|
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
|
|
|
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)
|
rs2143163267
|
|
NM_000135.4(FANCA):c.3066+1G>A
|
rs587783028
|
|
NM_000135.4(FANCA):c.3066+1G>T
|
rs587783028
|
|
NM_000135.4(FANCA):c.3067-1G>A
|
rs2038522097
|
|
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.3130C>T (p.Gln1044Ter)
|
rs1172710952
|
|
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.3164G>T (p.Arg1055Leu)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3164_3179del (p.Arg1055fs)
|
|
|
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer)
|
rs2038517512
|
|
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.3239+82T>G
|
rs2038511531
|
|
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3241_3626+1del
|
|
|
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.3266T>G (p.Val1089Gly)
|
rs2038476999
|
|
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.3282C>G (p.Ser1094Arg)
|
rs761244757
|
|
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter)
|
rs775799529
|
|
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.331_334dup (p.Leu112fs)
|
rs2040859131
|
|
NM_000135.4(FANCA):c.3328del (p.His1110fs)
|
|
|
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro)
|
rs752837228
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3348+2T>G
|
|
|
NM_000135.4(FANCA):c.3348+5G>A
|
rs1343799019
|
|
NM_000135.4(FANCA):c.3349-1G>C
|
|
|
NM_000135.4(FANCA):c.3349-2A>G
|
rs2038409874
|
|
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr)
|
rs2038409656
|
|
NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val)
|
rs2038408351
|
|
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
|
|
|
NM_000135.4(FANCA):c.3396_3399del (p.His1133fs)
|
rs2038407808
|
|
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.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)
|
rs2038399117
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3513G>A (p.Leu1171=)
|
rs2038398296
|
|
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)
|
rs1555536446
|
|
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
|
|
|
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.3560dup (p.His1188fs)
|
rs2062211067
|
|
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)
|
rs2062210802
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)
|
rs1381684916
|
|
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
|
|
|
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
|
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro)
|
rs770622823
|
|
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)
|
rs1313006784
|
|
NM_000135.4(FANCA):c.3627-1G>A
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3627-1G>C
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
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.3715_3729del (p.Glu1239_Arg1243del)
|
rs1375036674
|
|
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.3760G>T (p.Glu1254Ter)
|
rs375700263
|
|
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3761_3764dup (p.Leu1256fs)
|
rs2062169220
|
|
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)
|
rs2062169243
|
|
NM_000135.4(FANCA):c.3765+1G>T
|
rs2062169124
|
|
NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del)
|
rs2062115822
|
|
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)
|
|
|
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.3786C>G (p.Phe1262Leu)
|
rs2062115605
|
|
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.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.3828+1G>T
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3828+2dup
|
rs2062114186
|
|
NM_000135.4(FANCA):c.3829-1G>C
|
rs2062090760
|
|
NM_000135.4(FANCA):c.3847_3857del (p.Lys1283fs)
|
rs2062089925
|
|
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.3904T>C (p.Trp1302Arg)
|
rs878853665
|
|
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.3917_3918del (p.Phe1306fs)
|
rs1281446470
|
|
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.3926_3929del (p.Thr1309fs)
|
rs2062087915
|
|
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.396dup (p.His133fs)
|
rs2040855193
|
|
NM_000135.4(FANCA):c.3973G>C (p.Asp1325His)
|
rs2062069547
|
|
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.4009A>G (p.Ser1337Gly)
|
rs1268944859
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
NM_000135.4(FANCA):c.4010_4010+18del
|
rs2062066871
|
|
NM_000135.4(FANCA):c.4011-1G>C
|
rs761988162
|
|
NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del)
|
rs2062060149
|
|
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.4064_4065dup (p.Val1356fs)
|
rs2062057713
|
|
NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro)
|
rs1456500627
|
|
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)
|
rs1555533313
|
|
NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile)
|
rs1555533300
|
|
NM_000135.4(FANCA):c.4083_4084insG (p.Leu1362fs)
|
rs2062057035
|
|
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.4123_4139del (p.Thr1375fs)
|
rs2062054591
|
|
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.4168-1G>C
|
rs2062047006
|
|
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.4195G>C (p.Ala1399Pro)
|
rs749574677
|
|
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.426+1G>A
|
rs1343463467
|
|
NM_000135.4(FANCA):c.426+2T>G
|
rs1598190568
|
|
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.427-2A>G
|
rs765684774
|
|
NM_000135.4(FANCA):c.427-8_427-5del
|
rs2040847430
|
|
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
|
rs1598048941
|
|
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.448G>T (p.Glu150Ter)
|
rs947111024
|
|
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.470C>T (p.Ala157Val)
|
rs1251792942
|
|
NM_000135.4(FANCA):c.487del (p.Arg163fs)
|
rs2040845588
|
|
NM_000135.4(FANCA):c.495del (p.Phe166fs)
|
rs2143677288
|
|
NM_000135.4(FANCA):c.505G>T (p.Glu169Ter)
|
rs372691338
|
|
NM_000135.4(FANCA):c.50del (p.Gly17fs)
|
rs748624754
|
|
NM_000135.4(FANCA):c.50dup (p.Arg18fs)
|
|
|
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter)
|
rs121907930
|
|
NM_000135.4(FANCA):c.522+507_793-1273del
|
|
|
NM_000135.4(FANCA):c.542dup (p.Val182fs)
|
|
|
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
|
rs1598184500
|
|
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)
|
rs758528624
|
|
NM_000135.4(FANCA):c.555del (p.His186fs)
|
|
|
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
|
|
|
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs)
|
rs2143657184
|
|
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter)
|
rs776471397
|
|
NM_000135.4(FANCA):c.596+548_793-219del
|
|
|
NM_000135.4(FANCA):c.597-2A>G
|
rs2040602804
|
|
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.629T>G (p.Leu210Arg)
|
rs2040601073
|
|
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.66G>A (p.Trp22Ter)
|
rs2041138210
|
|
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly)
|
rs1354884515
|
|
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.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)
|
rs1311396994
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
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.784del (p.Met262fs)
|
rs2040520715
|
|
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.792G>A (p.Gln264=)
|
rs2040520107
|
|
NM_000135.4(FANCA):c.793-1G>C
|
rs1567642367
|
|
NM_000135.4(FANCA):c.793-2A>C
|
rs2040372065
|
|
NM_000135.4(FANCA):c.795_808del (p.Thr266fs)
|
rs2040370883
|
|
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.820C>T (p.Leu274=)
|
rs2040370137
|
|
NM_000135.4(FANCA):c.826+4del
|
rs2040369776
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
NM_000135.4(FANCA):c.84_87del (p.Arg29fs)
|
|
|
NM_000135.4(FANCA):c.851dup (p.Val285fs)
|
rs1369685302
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.88del (p.Val30fs)
|
rs2041101804
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
NM_000135.4(FANCA):c.893+1G>T
|
rs2040352832
|
|
NM_000135.4(FANCA):c.893+920C>A
|
rs1174586234
|
|
NM_000135.4(FANCA):c.894-1137_1359+1837del
|
|
|
NM_000135.4(FANCA):c.894-1G>A
|
rs2040234338
|
|
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
|
|
|
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.933_936delinsCT (p.Ser312fs)
|
rs2040232900
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.972del (p.Thr325fs)
|
|
|
NM_000135.4(FANCA):c.978_979del (p.Gln326fs)
|
rs2040231133
|
|
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_000135.4:c.1019_*580del
|
|
|
NM_000135.4:c.1471_2853del
|
|
|
NM_000135.4:c.1626_2602del
|
|
|
NM_000135.4:c.284_1627del
|
|
|
NM_000135.4:c.2853_*580del
|
|
|
NM_000135.4:c.874_2982del
|
|
|
NM_000135.4:c.894_2015del
|
|
|
NM_000136.2(FANCC):c.-78-?_250+?del
|
|
|
NM_000136.2(FANCC):c.997-?_1154+?del
|
|
|
NM_000136.3(FANCC):c.-262_-79+3686del
|
|
|
NM_000136.3(FANCC):c.1002del (p.Phe335fs)
|
rs2134694075
|
|
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.1154+1del
|
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
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.1208G>A (p.Trp403Ter)
|
rs2071939263
|
|
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.1487T>G (p.Leu496Arg)
|
rs121917785
|
|
NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter)
|
rs762501862
|
|
NM_000136.3(FANCC):c.1494T>G (p.Ala498=)
|
rs76895298
|
|
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.1550dup (p.Ile518fs)
|
rs2071089000
|
|
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.1598_1599insAG (p.Trp533Ter)
|
rs2071086256
|
|
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.1653dup (p.Lys552Ter)
|
rs2134382250
|
|
NM_000136.3(FANCC):c.1655_1658dup (p.Leu554fs)
|
|
|
NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT
|
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
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.259C>T (p.Gln87Ter)
|
rs2136049646
|
|
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.346-1G>A
|
rs1484503633
|
|
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.356_360del (p.Ser119fs)
|
rs1060499606
|
|
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.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.467del (p.Ser156fs)
|
rs1825652623
|
|
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.519del (p.Arg173fs)
|
rs1564719070
|
|
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.662del (p.Glu221fs)
|
rs1830058898
|
|
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.70C>T (p.Gln24Ter)
|
rs2136101386
|
|
NM_000136.3(FANCC):c.723C>A (p.Cys241Ter)
|
rs2135167716
|
|
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter)
|
rs1588134571
|
|
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.8_9del (p.Gln3fs)
|
rs1831183107
|
|
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_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_000136.3(FANCC):c.996G>A (p.Gln332=)
|
rs1825770865
|
|
NM_000179.3(MSH6):c.1438dup (p.Val480fs)
|
rs1669331597
|
|
NM_000179.3(MSH6):c.1596dup (p.Glu533Ter)
|
rs587779217
|
|
NM_000179.3(MSH6):c.2079del (p.Lys693fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)
|
rs63751419
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)
|
rs587782593
|
|
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)
|
rs587779252
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3386_3388del (p.Cys1129_Val1130delinsLeu)
|
rs587776705
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)
|
rs1800937
|
|
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn)
|
rs121912965
|
|
NM_000249.4(MLH1):c.116+1G>A
|
rs267607709
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
|
rs63750035
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)
|
rs63750899
|
|
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)
|
rs63750206
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)
|
rs397514684
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.885-1G>A
|
rs1553647894
|
|
NM_000251.2(MSH2):c.-125_1076+?del
|
|
|
NM_000251.3(MSH2):c.1076+1G>A
|
rs267607940
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.2006-5T>A
|
rs267607990
|
|
NM_000251.3(MSH2):c.454del (p.Met152fs)
|
rs63751449
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
NM_000251.3(MSH2):c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs)
|
rs2104042264
|
|
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)
|
rs63751274
|
|
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)
|
rs587779190
|
|
NM_000380.4(XPA):c.172+2T>G
|
rs1587755557
|
|
NM_000380.4(XPA):c.266_267dup (p.Val90fs)
|
rs759052378
|
|
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)
|
rs104894131
|
|
NM_000380.4(XPA):c.348T>A (p.Tyr116Ter)
|
rs104894134
|
|
NM_000380.4(XPA):c.349_353del (p.Leu117fs)
|
rs1200172747
|
|
NM_000380.4(XPA):c.374del (p.Thr125fs)
|
rs1828818571
|
|
NM_000380.4(XPA):c.389+1G>A
|
rs1554701931
|
|
NM_000380.4(XPA):c.428_429del (p.Glu143fs)
|
rs1554701540
|
|
NM_000380.4(XPA):c.520C>T (p.Gln174Ter)
|
|
|
NM_000380.4(XPA):c.540_541del (p.Tyr181fs)
|
rs2131396482
|
|
NM_000380.4(XPA):c.545_546insTA (p.Leu182fs)
|
rs786205205
|
|
NM_000380.4(XPA):c.553C>T (p.Gln185Ter)
|
rs1828741490
|
|
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)
|
rs149226993
|
|
NM_000380.4(XPA):c.640dup (p.Met214fs)
|
|
|
NM_000380.4(XPA):c.648_649del (p.Lys217fs)
|
rs1057519018
|
|
NM_000380.4(XPA):c.759dup (p.Asp254fs)
|
|
|
NM_000380.4(XPA):c.772_785del (p.Arg258fs)
|
rs778543124
|
|
NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter)
|
rs1568546252
|
|
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro)
|
rs121913025
|
|
NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg)
|
rs121913019
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000400.4(ERCC2):c.1745_1747delinsTTTCGG (p.Glu582_Lys583delinsValSerGlu)
|
rs2123229159
|
|
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
|
|
|
NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)
|
|
|
NM_000400.4(ERCC2):c.184-1G>T
|
rs1568546120
|
|
NM_000400.4(ERCC2):c.1997G>A (p.Arg666Gln)
|
rs1971845337
|
|
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)
|
rs1971844960
|
|
NM_000400.4(ERCC2):c.2009del (p.Gly670fs)
|
rs1971844830
|
|
NM_000400.4(ERCC2):c.2074A>G (p.Lys692Glu)
|
|
|
NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter)
|
rs121913017
|
|
NM_000400.4(ERCC2):c.2190+1del
|
rs1476160722
|
|
NM_000400.4(ERCC2):c.2191-1G>A
|
|
|
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
|
|
|
NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)
|
rs964247601
|
|
NM_000400.4(ERCC2):c.361-1G>A
|
|
|
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer)
|
rs767747355
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000400.4(ERCC2):c.851del (p.Glu284fs)
|
rs2123288444
|
|
NM_000400.4(ERCC2):c.949+5G>A
|
rs899469885
|
|
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]
|
|
|
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
|
|
|
NM_000535.6:c.(988+1_989-1)_(1144+1_1145-1)del
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)
|
rs63750106
|
|
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)
|
rs1554297488
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1903G>T (p.Glu635Ter)
|
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.219T>A (p.Cys73Ter)
|
rs121434630
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.24-2A>C
|
rs1583419860
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)
|
rs761134229
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
|
|
|
NM_001018113.1(FANCB):c.(?_-268)_(*160_?)del
|
|
|
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)
|
rs143585647
|
|
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)
|
|
|
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser)
|
rs1602006737
|
|
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)
|
rs2147404831
|
|
NM_001018113.3(FANCB):c.1496+5G>A
|
rs1569085810
|
|
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)
|
|
|
NM_001018113.3(FANCB):c.1668del (p.Asp557fs)
|
rs1569083679
|
|
NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs)
|
rs1601977912
|
|
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs)
|
rs1601977844
|
|
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs)
|
rs1569083464
|
|
NM_001018113.3(FANCB):c.195dup (p.Thr66fs)
|
rs1602006627
|
|
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter)
|
rs1569083185
|
|
NM_001018113.3(FANCB):c.2165+1G>T
|
rs1601977379
|
|
NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs)
|
rs1601976655
|
|
NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs)
|
rs1601976527
|
|
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)
|
|
|
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs)
|
rs1602005463
|
|
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter)
|
rs2147445599
|
|
NM_001018113.3(FANCB):c.829dup (p.Cys277fs)
|
rs1602005335
|
|
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
|
|
|
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)
|
rs1602005062
|
|
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)
|
rs1161918267
|
|
NM_001018115.1:c.1414_1545del
|
|
|
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.1092G>A (p.Trp364Ter)
|
rs2086921262
|
|
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.1201del (p.Arg401fs)
|
rs1553608812
|
|
NM_001018115.3(FANCD2):c.1279-1G>A
|
rs1294791314
|
|
NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs)
|
rs2087073639
|
|
NM_001018115.3(FANCD2):c.1414-69_1545+258del
|
rs2087125303
|
|
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.1948-16T>G
|
rs2087653225
|
|
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
|
|
|
NM_001018115.3(FANCD2):c.206-2A>T
|
rs771573600
|
|
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.2160del (p.Gly721fs)
|
rs2125035511
|
|
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.2661del (p.Glu888fs)
|
rs762544228
|
|
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)
|
|
|
NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter)
|
rs1693433379
|
|
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.2835dup (p.Asp947fs)
|
rs1693439048
|
|
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.2977-2A>G
|
rs1206160345
|
|
NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr)
|
rs2086516483
|
|
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.3294del (p.Lys1099fs)
|
|
|
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.3500G>A (p.Trp1167Ter)
|
rs2125076610
|
|
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.3599del (p.Ile1200fs)
|
rs1694404041
|
|
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)
|
|
|
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
|
|
|
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser)
|
rs771078251
|
|
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.692T>G (p.Leu231Arg)
|
rs2086819957
|
|
NM_001018115.3(FANCD2):c.694del (p.Ser232fs)
|
|
|
NM_001018115.3(FANCD2):c.696-121C>G
|
rs2086862509
|
|
NM_001018115.3(FANCD2):c.696-2A>T
|
rs2086865333
|
|
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.810GTC[1] (p.Ser272del)
|
rs748327074
|
|
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_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)
|
rs121908159
|
|
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1156+1G>C
|
|
|
NM_001033855.3(DCLRE1C):c.1156+2T>G
|
|
|
NM_001033855.3(DCLRE1C):c.1221C>G (p.Tyr407Ter)
|
rs1296189593
|
|
NM_001033855.3(DCLRE1C):c.1246_1247insCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAG (p.Phe416fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1248delinsAATCATATTTACCAAATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTAGTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAGTA (p.Phe416delinsLeuIleIlePheThrLysCysProSerPheThrTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1259_1266dup (p.Glu423fs)
|
rs755447150
|
|
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter)
|
rs1354336544
|
|
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter)
|
rs1354336544
|
|
NM_001033855.3(DCLRE1C):c.1270A>T (p.Lys424Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1286_1287del (p.Leu429fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1299_1306dup (p.Cys436Ter)
|
rs2131778656
|
|
NM_001033855.3(DCLRE1C):c.1313_1317del (p.Ala438fs)
|
rs2131778479
|
|
NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter)
|
rs753674918
|
|
NM_001033855.3(DCLRE1C):c.1316_1317del (p.Glu439fs)
|
rs1200768694
|
|
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs)
|
rs786200884
|
|
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1438C>T (p.Gln480Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs)
|
rs2131776743
|
|
NM_001033855.3(DCLRE1C):c.1467G>A (p.Trp489Ter)
|
rs2131776422
|
|
NM_001033855.3(DCLRE1C):c.1467_1468del (p.Trp489_Glu490delinsTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1489_1490insCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAATG (p.Asp497delinsAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrThrValLysProArgLeuTyrTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter)
|
rs372597855
|
|
NM_001033855.3(DCLRE1C):c.1502_1503dup (p.Glu502fs)
|
rs2131776130
|
|
NM_001033855.3(DCLRE1C):c.1502_1508del (p.Asp501fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1507_1508del (p.Ser503fs)
|
rs2131775994
|
|
NM_001033855.3(DCLRE1C):c.1543G>T (p.Gly515Ter)
|
rs1419439468
|
|
NM_001033855.3(DCLRE1C):c.1545dup (p.Ser516fs)
|
rs2131775605
|
|
NM_001033855.3(DCLRE1C):c.1549C>T (p.Gln517Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1558_1559del (p.Lys520fs)
|
rs2131775466
|
|
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1585_1588dup (p.Thr530fs)
|
rs1834776385
|
|
NM_001033855.3(DCLRE1C):c.161+2T>G
|
|
|
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs)
|
rs767758218
|
|
NM_001033855.3(DCLRE1C):c.1636C>T (p.Gln546Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1665_1666del (p.Asp556fs)
|
rs2131774270
|
|
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)
|
rs886037924
|
|
NM_001033855.3(DCLRE1C):c.178_179dup (p.Cys61fs)
|
|
|
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)
|
rs2131108640
|
|
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
|
|
|
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)
|
rs886037925
|
|
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)
|
rs1589136659
|
|
NM_001033855.3(DCLRE1C):c.310_313del
|
rs2130974126
|
|
NM_001033855.3(DCLRE1C):c.318dup (p.Val107fs)
|
|
|
NM_001033855.3(DCLRE1C):c.328del (p.Leu110fs)
|
|
|
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
|
|
|
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)
|
|
|
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)
|
rs1839957089
|
|
NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.362+1G>T
|
rs1564446526
|
|
NM_001033855.3(DCLRE1C):c.362+2T>A
|
|
|
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs)
|
rs1589070600
|
|
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)
|
rs1404214090
|
|
NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs)
|
rs1839622622
|
|
NM_001033855.3(DCLRE1C):c.484_487dup (p.Tyr163fs)
|
|
|
NM_001033855.3(DCLRE1C):c.511_512delinsTG (p.Pro171Ter)
|
rs2130943393
|
|
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)
|
rs1340132582
|
|
NM_001033855.3(DCLRE1C):c.565del (p.Leu189fs)
|
|
|
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)
|
rs752655158
|
|
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)
|
rs121908157
|
|
NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs)
|
rs1839558393
|
|
NM_001033855.3(DCLRE1C):c.629del (p.Tyr210fs)
|
rs2130938370
|
|
NM_001033855.3(DCLRE1C):c.655del (p.Ser220fs)
|
|
|
NM_001033855.3(DCLRE1C):c.668T>G (p.Leu223Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs)
|
rs1407251815
|
|
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)
|
rs1589050343
|
|
NM_001033855.3(DCLRE1C):c.780+1del
|
rs786205074
|
|
NM_001033855.3(DCLRE1C):c.787G>T (p.Glu263Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.801G>A (p.Trp267Ter)
|
rs2130853055
|
|
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter)
|
rs1346260747
|
|
NM_001033855.3(DCLRE1C):c.822del (p.Thr275fs)
|
|
|
NM_001033855.3(DCLRE1C):c.917+1G>A
|
rs1564418254
|
|
NM_001033855.3(DCLRE1C):c.972+1G>C
|
rs1564414523
|
|
NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)
|
|
|
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.1264G>C (p.Gly422Arg)
|
rs146040966
|
|
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.158-2A>G
|
rs762128147
|
|
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.2248T>C (p.Cys750Arg)
|
rs2054124504
|
|
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.2572C>T (p.His858Tyr)
|
rs1361710673
|
|
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.2737C>T (p.Gln913Ter)
|
rs1359408831
|
|
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.2957_2969del (p.Val986fs)
|
|
|
NM_001113378.2(FANCI):c.295del (p.His99fs)
|
rs759398314
|
|
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)
|
rs2052048258
|
|
NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs)
|
rs1596318782
|
|
NM_001113378.2(FANCI):c.3058+4A>G
|
rs2054616468
|
|
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.3350-88A>G
|
rs2054700381
|
|
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
|
|
|
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs)
|
rs2054707218
|
|
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.3521C>T (p.Thr1174Ile)
|
rs757106031
|
|
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
|
|
|
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg)
|
rs747326740
|
|
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.3854G>A (p.Arg1285Gln)
|
rs121918163
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs)
|
rs2055186253
|
|
NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter)
|
rs544848412
|
|
NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del)
|
rs2055264556
|
|
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.756-25_756-19del
|
rs2053061271
|
|
NM_001113378.2(FANCI):c.834del (p.Ile279fs)
|
rs748961800
|
|
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)
|
rs1210148997
|
|
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_001113525.2(ZNF276):c.*465G>C
|
rs765478990
|
|
NM_001113525.2(ZNF276):c.*474_*481del
|
rs1567591276
|
|
NM_001195248.2(APTX):c.484-1G>T
|
rs1563963464
|
|
NM_001195248.2(APTX):c.544-1G>C
|
rs2118688818
|
|
NM_001195248.2(APTX):c.587dup (p.Ala198fs)
|
rs2118686800
|
|
NM_001195248.2(APTX):c.602A>G (p.His201Arg)
|
rs121908133
|
|
NM_001195248.2(APTX):c.638del (p.Leu213fs)
|
|
|
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro)
|
rs267606665
|
|
NM_001195248.2(APTX):c.697A>T (p.Lys233Ter)
|
rs1114167423
|
|
NM_001195248.2(APTX):c.776del (p.Val259fs)
|
rs1563945076
|
|
NM_001195248.2(APTX):c.788T>G (p.Val263Gly)
|
rs121908132
|
|
NM_001195248.2(APTX):c.841del (p.Ser281fs)
|
rs587776594
|
|
NM_001195248.2(APTX):c.875-1G>A
|
rs1587330671
|
|
NM_001195248.2(APTX):c.875-2A>G
|
rs904293109
|
|
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter)
|
rs121913027
|
|
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)
|
rs121913028
|
|
NM_002485.4(NBN):c.897-?_2184+?del
|
|
|
NM_002485.4(NBN):c.[1030C>T];[842T>G]
|
|
|
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)
|
rs1810856747
|
|
NM_002485.5(NBN):c.1038_1039dup (p.Ser347fs)
|
rs1554560432
|
|
NM_002485.5(NBN):c.1044del (p.Asp349fs)
|
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1071dup (p.Val358fs)
|
rs2129745554
|
|
NM_002485.5(NBN):c.1072del (p.Pro357_Val358insTer)
|
rs2129745511
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1107dup (p.Glu370fs)
|
rs2129744712
|
|
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)
|
rs1057519588
|
|
NM_002485.5(NBN):c.113_114insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGA (p.Asp38delinsGluAlaGlyArgGlyGlySerArgLeuTer)
|
rs2129925072
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1146del (p.Glu383fs)
|
rs1586059584
|
|
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)
|
rs772909239
|
|
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.1155dup (p.Val386fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.115C>T (p.Gln39Ter)
|
rs377730553
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
NM_002485.5(NBN):c.1165dup (p.Met389fs)
|
rs2129721709
|
|
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)
|
rs2129721628
|
|
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)
|
rs1554559323
|
|
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1190C>G (p.Ser397Ter)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1192C>T (p.Gln398Ter)
|
rs2129721263
|
|
NM_002485.5(NBN):c.1203_1206dup (p.Val403fs)
|
rs1810667631
|
|
NM_002485.5(NBN):c.1203del (p.Thr402fs)
|
|
|
NM_002485.5(NBN):c.1221C>A (p.Cys407Ter)
|
|
|
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
|
|
|
NM_002485.5(NBN):c.1225del (p.Thr409fs)
|
rs2129720423
|
|
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer)
|
rs2129720196
|
|
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter)
|
rs1554559212
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
|
|
|
NM_002485.5(NBN):c.1314del (p.Ser438fs)
|
|
|
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)
|
rs1554559094
|
|
NM_002485.5(NBN):c.1332dup (p.Arg445Ter)
|
rs1586058444
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
NM_002485.5(NBN):c.1362dup (p.Ile455fs)
|
rs2129717307
|
|
NM_002485.5(NBN):c.1366del (p.Arg456fs)
|
rs1554559038
|
|
NM_002485.5(NBN):c.1374C>G (p.Tyr458Ter)
|
|
|
NM_002485.5(NBN):c.1377dup (p.Gln460fs)
|
rs1554559028
|
|
NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)
|
rs1563530658
|
|
NM_002485.5(NBN):c.1396del (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
NM_002485.5(NBN):c.1405del (p.Asp469fs)
|
rs2129704309
|
|
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)
|
rs755805461
|
|
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs)
|
rs864622333
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)
|
|
|
NM_002485.5(NBN):c.143T>G (p.Leu48Ter)
|
rs2129924518
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs)
|
rs1586054483
|
|
NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)
|
|
|
NM_002485.5(NBN):c.1480_1481del (p.Gln494fs)
|
rs1586054483
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1488_1491dup (p.Pro498fs)
|
|
|
NM_002485.5(NBN):c.1496C>A (p.Ser499Ter)
|
rs772411713
|
|
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)
|
rs772411713
|
|
NM_002485.5(NBN):c.14_23del (p.Leu5fs)
|
rs2129938178
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)
|
rs876658535
|
|
NM_002485.5(NBN):c.1523dup (p.Ser509fs)
|
rs1586054199
|
|
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer)
|
rs1563526747
|
|
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)
|
|
|
NM_002485.5(NBN):c.1553C>G (p.Ser518Ter)
|
rs1060503480
|
|
NM_002485.5(NBN):c.1554del (p.Asp519fs)
|
rs2129701175
|
|
NM_002485.5(NBN):c.1554dup (p.Asp519fs)
|
rs1554558423
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)
|
|
|
NM_002485.5(NBN):c.1583T>G (p.Leu528Ter)
|
rs2129700612
|
|
NM_002485.5(NBN):c.1587dup (p.Ser530fs)
|
rs1057516332
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)
|
rs776417262
|
|
NM_002485.5(NBN):c.1642_1661del (p.Ser547_Asn548insTer)
|
rs2129699105
|
|
NM_002485.5(NBN):c.1644dup (p.Lys549Ter)
|
rs2129699596
|
|
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)
|
rs1810540992
|
|
NM_002485.5(NBN):c.1647_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1651dup (p.Arg551fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1654dup (p.Glu552fs)
|
rs760237820
|
|
NM_002485.5(NBN):c.1675dup (p.Glu559fs)
|
rs1563525678
|
|
NM_002485.5(NBN):c.1693C>T (p.Gln565Ter)
|
rs1586053399
|
|
NM_002485.5(NBN):c.1693_1694del (p.Gln565fs)
|
|
|
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs)
|
rs1279184426
|
|
NM_002485.5(NBN):c.1697dup (p.Leu566fs)
|
rs1586053378
|
|
NM_002485.5(NBN):c.1700_1760dup (p.Val587_Asn588insGlnGlyHisLysThrArgValArgAsnTer)
|
rs1810527499
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1726del (p.Ile576fs)
|
|
|
NM_002485.5(NBN):c.1737del (p.Val580fs)
|
rs1563525210
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.1747dup (p.Gln583fs)
|
rs1810529464
|
|
NM_002485.5(NBN):c.1750G>T (p.Glu584Ter)
|
rs1554558270
|
|
NM_002485.5(NBN):c.1769del (p.Arg590fs)
|
rs1563525004
|
|
NM_002485.5(NBN):c.1778_1779insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAAGGCC (p.Pro593_Arg594insAlaGlyArgGlyGlySerArgLeuTer)
|
rs2129696816
|
|
NM_002485.5(NBN):c.177_180del (p.Thr60fs)
|
|
|
NM_002485.5(NBN):c.1780del (p.Arg594fs)
|
rs1586052920
|
|
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs)
|
rs1586052851
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)
|
rs1554558199
|
|
NM_002485.5(NBN):c.183del (p.Asp61fs)
|
rs587782147
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)
|
rs766602873
|
|
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs)
|
rs1060503466
|
|
NM_002485.5(NBN):c.1860del (p.Ile620fs)
|
rs1810270891
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)
|
rs1810267412
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)
|
rs2129659855
|
|
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)
|
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
NM_002485.5(NBN):c.1912del (p.Ser638fs)
|
|
|
NM_002485.5(NBN):c.1923dup (p.Lys642fs)
|
|
|
NM_002485.5(NBN):c.1939del (p.Ser647fs)
|
rs2129648967
|
|
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
|
rs780235686
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter)
|
rs1810183784
|
|
NM_002485.5(NBN):c.1986_2001del (p.Val663fs)
|
rs2129647483
|
|
NM_002485.5(NBN):c.1992dup (p.Lys665Ter)
|
rs2129647777
|
|
NM_002485.5(NBN):c.1993A>T (p.Lys665Ter)
|
rs1554556544
|
|
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)
|
rs1057516852
|
|
NM_002485.5(NBN):c.2007del (p.Arg670fs)
|
|
|
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs)
|
rs1036111786
|
|
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)
|
rs1554556485
|
|
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)
|
rs786203920
|
|
NM_002485.5(NBN):c.2059A>T (p.Lys687Ter)
|
rs2130763590
|
|
NM_002485.5(NBN):c.205_212del (p.Lys69fs)
|
rs2129915884
|
|
NM_002485.5(NBN):c.2069del (p.Lys690fs)
|
|
|
NM_002485.5(NBN):c.2071del
|
rs2130756322
|
|
NM_002485.5(NBN):c.2077dup (p.Tyr693fs)
|
|
|
NM_002485.5(NBN):c.2083G>T (p.Gly695Ter)
|
rs1554555835
|
|
NM_002485.5(NBN):c.2089G>T (p.Gly697Ter)
|
rs1038132485
|
|
NM_002485.5(NBN):c.208_209insTA (p.Asp70fs)
|
rs2129915990
|
|
NM_002485.5(NBN):c.2097_2098del (p.Pro700fs)
|
rs2130756068
|
|
NM_002485.5(NBN):c.2097_2098insA (p.Pro700fs)
|
|
|
NM_002485.5(NBN):c.2097dup (p.Pro700fs)
|
|
|
NM_002485.5(NBN):c.2099del (p.Pro700fs)
|
rs1301956720
|
|
NM_002485.5(NBN):c.2102del (p.His701fs)
|
rs1810038215
|
|
NM_002485.5(NBN):c.210_211del (p.Asp70fs)
|
rs786202494
|
|
NM_002485.5(NBN):c.210_211dup (p.Asn71fs)
|
rs786202494
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.212_215del (p.Asn71fs)
|
rs1064795634
|
|
NM_002485.5(NBN):c.2139_2140delinsCT (p.Arg714Ter)
|
|
|
NM_002485.5(NBN):c.2140_2143del (p.Lys715fs)
|
rs1810034093
|
|
NM_002485.5(NBN):c.2140del (p.Arg714fs)
|
rs1810034741
|
|
NM_002485.5(NBN):c.2145_2147delinsT (p.Lys715fs)
|
rs1810033651
|
|
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)
|
|
|
NM_002485.5(NBN):c.2152del (p.Glu718fs)
|
|
|
NM_002485.5(NBN):c.2156_2157insTT (p.Leu719_Glu720insTer)
|
|
|
NM_002485.5(NBN):c.2156dup (p.Glu720fs)
|
rs1586035111
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
NM_002485.5(NBN):c.2165G>A (p.Trp722Ter)
|
rs786204181
|
|
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)
|
rs1554568348
|
|
NM_002485.5(NBN):c.2172_2173delinsTT (p.Arg724_Gln725delinsSerTer)
|
rs2130755275
|
|
NM_002485.5(NBN):c.2173C>T (p.Gln725Ter)
|
rs1810030774
|
|
NM_002485.5(NBN):c.217A>T (p.Lys73Ter)
|
rs2129915767
|
|
NM_002485.5(NBN):c.2188C>T (p.Gln730Ter)
|
rs1554554267
|
|
NM_002485.5(NBN):c.222T>G (p.Tyr74Ter)
|
rs1563581193
|
|
NM_002485.5(NBN):c.226dup (p.Thr76fs)
|
rs1554568340
|
|
NM_002485.5(NBN):c.228_231dup (p.Val78fs)
|
rs2129915522
|
|
NM_002485.5(NBN):c.231dup (p.Val78fs)
|
rs1586108827
|
|
NM_002485.5(NBN):c.241G>T (p.Glu81Ter)
|
rs1064795037
|
|
NM_002485.5(NBN):c.247dup (p.Met83fs)
|
|
|
NM_002485.5(NBN):c.250C>T (p.Gln84Ter)
|
rs1586108714
|
|
NM_002485.5(NBN):c.269del (p.Thr90fs)
|
|
|
NM_002485.5(NBN):c.26del (p.Gly9fs)
|
rs1060503485
|
|
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer)
|
rs1586108633
|
|
NM_002485.5(NBN):c.278C>A (p.Ser93Ter)
|
rs12721593
|
|
NM_002485.5(NBN):c.283del (p.Asp95fs)
|
rs2129914556
|
|
NM_002485.5(NBN):c.292dup (p.Thr98fs)
|
|
|
NM_002485.5(NBN):c.298G>T (p.Gly100Ter)
|
rs2129914287
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.330dup (p.Glu111Ter)
|
rs2129910887
|
|
NM_002485.5(NBN):c.335del (p.Pro112fs)
|
rs2129910740
|
|
NM_002485.5(NBN):c.352del (p.Ser118fs)
|
rs2129910401
|
|
NM_002485.5(NBN):c.353del (p.Ser118fs)
|
|
|
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)
|
rs1563579387
|
|
NM_002485.5(NBN):c.377del (p.Thr126fs)
|
rs1554567972
|
|
NM_002485.5(NBN):c.38-12A>G
|
rs773524364
|
|
NM_002485.5(NBN):c.383T>G (p.Leu128Ter)
|
rs1060503463
|
|
NM_002485.5(NBN):c.393_400del (p.Ile132fs)
|
rs2129909528
|
|
NM_002485.5(NBN):c.407dup (p.Gly137fs)
|
rs747462107
|
|
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)
|
rs1812023981
|
|
NM_002485.5(NBN):c.436G>T (p.Glu146Ter)
|
rs1812023357
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
NM_002485.5(NBN):c.448del (p.Val151fs)
|
rs1563578727
|
|
NM_002485.5(NBN):c.468del (p.Val157fs)
|
rs1563578596
|
|
NM_002485.5(NBN):c.46_49del (p.Tyr16fs)
|
rs1812139426
|
|
NM_002485.5(NBN):c.474del (p.Ile159fs)
|
rs1563578540
|
|
NM_002485.5(NBN):c.481-2A>C
|
rs751567476
|
|
NM_002485.5(NBN):c.481-2A>G
|
rs751567476
|
|
NM_002485.5(NBN):c.489T>A (p.Cys163Ter)
|
|
|
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)
|
rs2129926091
|
|
NM_002485.5(NBN):c.48_49del (p.Tyr16_Arg17delinsTer)
|
|
|
NM_002485.5(NBN):c.492dup (p.Leu165fs)
|
rs1586101609
|
|
NM_002485.5(NBN):c.496_512del (p.Ile166fs)
|
rs758830069
|
|
NM_002485.5(NBN):c.499dup (p.Cys167fs)
|
rs1586101561
|
|
NM_002485.5(NBN):c.4del (p.Trp2fs)
|
rs1275657359
|
|
NM_002485.5(NBN):c.520_521insT (p.Pro174fs)
|
rs2129889298
|
|
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs)
|
rs1554566678
|
|
NM_002485.5(NBN):c.548del (p.Ala183fs)
|
|
|
NM_002485.5(NBN):c.552_556del (p.Glu185fs)
|
rs2129888420
|
|
NM_002485.5(NBN):c.55_56del (p.Leu19fs)
|
rs876659305
|
|
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)
|
rs1198614767
|
|
NM_002485.5(NBN):c.565del (p.Gln189fs)
|
rs1811864250
|
|
NM_002485.5(NBN):c.56del (p.Leu18_Leu19insTer)
|
rs876659305
|
|
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)
|
rs1554566610
|
|
NM_002485.5(NBN):c.580del (p.Glu194fs)
|
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.5G>A (p.Trp2Ter)
|
rs1812244679
|
|
NM_002485.5(NBN):c.604G>T (p.Glu202Ter)
|
rs1811506628
|
|
NM_002485.5(NBN):c.626del (p.Asn209fs)
|
rs2129838943
|
|
NM_002485.5(NBN):c.649G>T (p.Glu217Ter)
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.667_668insTTTATATTTTTATTATATAAAATATAATAAAGAAAACATTTATATTTTATAATATAAAAATATTATATTATATATAAAATATAATAAAGAAAACATTATATA (p.Lys223delinsIleTyrIlePheIleIleTer)
|
|
|
NM_002485.5(NBN):c.676del (p.Thr226fs)
|
rs1563561558
|
|
NM_002485.5(NBN):c.68del (p.Glu23fs)
|
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.6G>A (p.Trp2Ter)
|
rs876661130
|
|
NM_002485.5(NBN):c.700C>T (p.Gln234Ter)
|
|
|
NM_002485.5(NBN):c.721_722insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATTGAGTTCCG (p.Ala241delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaLysLysLysLysLysLysLysArgAsnTer)
|
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
NM_002485.5(NBN):c.742G>T (p.Glu248Ter)
|
rs1811464271
|
|
NM_002485.5(NBN):c.742dup (p.Glu248fs)
|
|
|
NM_002485.5(NBN):c.75dup (p.Val26fs)
|
rs1199711768
|
|
NM_002485.5(NBN):c.765_801del (p.Asn256fs)
|
rs2129829309
|
|
NM_002485.5(NBN):c.785_786delinsAA (p.Phe262Ter)
|
rs2129829803
|
|
NM_002485.5(NBN):c.78dup (p.Gly27fs)
|
|
|
NM_002485.5(NBN):c.794dup (p.Pro266fs)
|
|
|
NM_002485.5(NBN):c.800dup (p.Thr268fs)
|
rs1554563955
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
NM_002485.5(NBN):c.830del (p.Asn277fs)
|
|
|
NM_002485.5(NBN):c.832_835del (p.Ser278fs)
|
|
|
NM_002485.5(NBN):c.836_839del (p.Gln279fs)
|
rs864309668
|
|
NM_002485.5(NBN):c.836del (p.Gln279fs)
|
rs1554563878
|
|
NM_002485.5(NBN):c.83_89del (p.Arg28fs)
|
rs1554569106
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
NM_002485.5(NBN):c.848del (p.Pro283fs)
|
rs2129827996
|
|
NM_002485.5(NBN):c.851_854del (p.Asp284fs)
|
rs2129827880
|
|
NM_002485.5(NBN):c.855T>A (p.Cys285Ter)
|
|
|
NM_002485.5(NBN):c.857dup (p.Lys287fs)
|
|
|
NM_002485.5(NBN):c.864del (p.Lys288fs)
|
|
|
NM_002485.5(NBN):c.871C>T (p.Gln291Ter)
|
rs1554563822
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.875C>G (p.Ser292Ter)
|
|
|
NM_002485.5(NBN):c.877del (p.Ser292_Ile293insTer)
|
rs1811450828
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
NM_002485.5(NBN):c.911del (p.Pro304fs)
|
rs1563549036
|
|
NM_002485.5(NBN):c.917del (p.Pro306fs)
|
rs1554562185
|
|
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)
|
rs371480039
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.93_96dup (p.Ile33fs)
|
rs2129925355
|
|
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)
|
rs748453607
|
|
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)
|
rs748453607
|
|
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer)
|
rs1811144443
|
|
NM_002485.5(NBN):c.974del (p.Pro325fs)
|
rs1554562110
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
NM_002485.5(NBN):c.979_980del (p.Gly327fs)
|
|
|
NM_002485.5(NBN):c.992_994+3del
|
rs1563548315
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002875.5(RAD51):c.391A>C (p.Thr131Pro)
|
rs1895530875
|
|
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)
|
rs1057519413
|
|
NM_004006.2:g.(?_89845141)_(89858973_?)del
|
|
|
NM_004628.4(XPC):c.621_622ins83 (p.?)
|
|
|
NM_004628.5(XPC):c.103+1G>A
|
rs1423398589
|
|
NM_004628.5(XPC):c.128del (p.Pro43fs)
|
rs1260189637
|
|
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs)
|
rs794729654
|
|
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)
|
rs754532049
|
|
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)
|
rs767569346
|
|
NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter)
|
rs767569346
|
|
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter)
|
rs1695999145
|
|
NM_004628.5(XPC):c.1872+1G>C
|
rs1559374923
|
|
NM_004628.5(XPC):c.1894C>T (p.Gln632Ter)
|
rs3731139
|
|
NM_004628.5(XPC):c.2033+2T>G
|
rs794729655
|
|
NM_004628.5(XPC):c.2126_2129del (p.Gly709fs)
|
rs1574950526
|
|
NM_004628.5(XPC):c.2127del (p.Ser711fs)
|
rs1695569595
|
|
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)
|
rs754775337
|
|
NM_004628.5(XPC):c.2176_2192del (p.Glu726fs)
|
|
|
NM_004628.5(XPC):c.218_219insT (p.Lys73fs)
|
|
|
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)
|
rs1559369237
|
|
NM_004628.5(XPC):c.2250+1G>A
|
|
|
NM_004628.5(XPC):c.2262del (p.Asn754fs)
|
rs786205206
|
|
NM_004628.5(XPC):c.2287del (p.Leu763fs)
|
rs1553604559
|
|
NM_004628.5(XPC):c.342_343del (p.Ala116fs)
|
rs1228981894
|
|
NM_004628.5(XPC):c.362del (p.Asp121fs)
|
|
|
NM_004628.5(XPC):c.395_398del (p.Asp132fs)
|
rs1696563531
|
|
NM_004628.5(XPC):c.413-24A>G
|
rs794729657
|
|
NM_004628.5(XPC):c.413-9T>A
|
rs794729656
|
|
NM_004628.5(XPC):c.420_423del (p.Glu141fs)
|
rs1330667099
|
|
NM_004628.5(XPC):c.445_446del (p.Glu149fs)
|
rs1402162002
|
|
NM_004628.5(XPC):c.463C>T (p.Arg155Ter)
|
rs755825264
|
|
NM_004628.5(XPC):c.524_525dup (p.Arg176fs)
|
rs1696466639
|
|
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)
|
rs752088918
|
|
NM_004628.5(XPC):c.622-2A>G
|
rs201940931
|
|
NM_004628.5(XPC):c.669_670del (p.Ile223fs)
|
rs1696343406
|
|
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)
|
rs867461743
|
|
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.1143+5G>A
|
rs778328620
|
|
NM_004629.2(FANCG):c.1144-1G>A
|
|
|
NM_004629.2(FANCG):c.1144-1G>C
|
rs755363896
|
|
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.1182_1192delinsC (p.Glu395fs)
|
rs397507559
|
|
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.1216dup (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.1468G>T (p.Glu490Ter)
|
rs2131053417
|
|
NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)
|
|
|
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.1501C>T (p.Gln501Ter)
|
rs2131053086
|
|
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter)
|
rs1829056657
|
|
NM_004629.2(FANCG):c.1561G>T (p.Gly521Ter)
|
rs1829055945
|
|
NM_004629.2(FANCG):c.1562G>A (p.Gly521Glu)
|
rs1829055917
|
|
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.1636G>C (p.Gly546Arg)
|
rs766086210
|
|
NM_004629.2(FANCG):c.1649del (p.Thr550fs)
|
rs1829042768
|
|
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.1749del (p.Asp584fs)
|
rs1829040508
|
|
NM_004629.2(FANCG):c.1761-1G>A
|
rs1829035889
|
|
NM_004629.2(FANCG):c.1761-1G>C
|
rs1829035889
|
|
NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe)
|
rs1420316004
|
|
NM_004629.2(FANCG):c.1771dup (p.Leu591fs)
|
rs746392434
|
|
NM_004629.2(FANCG):c.179del (p.Leu60fs)
|
rs1829130643
|
|
NM_004629.2(FANCG):c.182del (p.Pro61fs)
|
|
|
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)
|
rs1829130135
|
|
NM_004629.2(FANCG):c.214_217del (p.Thr72fs)
|
rs747660501
|
|
NM_004629.2(FANCG):c.21dup (p.Val8fs)
|
|
|
NM_004629.2(FANCG):c.244dup (p.Ala82fs)
|
rs1829129696
|
|
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter)
|
rs1829129603
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
NM_004629.2(FANCG):c.307+2del
|
rs1829128546
|
|
NM_004629.2(FANCG):c.319_320del (p.Gln107fs)
|
|
|
NM_004629.2(FANCG):c.336del (p.Arg113fs)
|
rs2131058595
|
|
NM_004629.2(FANCG):c.346C>T (p.Gln116Ter)
|
rs1829123346
|
|
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.619del (p.Leu207fs)
|
|
|
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.646+1G>T
|
rs1028569753
|
|
NM_004629.2(FANCG):c.65G>C (p.Arg22Pro)
|
rs1829144428
|
|
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.778-1G>C
|
rs767518932
|
|
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.85-1G>A
|
rs1052044702
|
|
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.910G>T (p.Glu304Ter)
|
rs1829091954
|
|
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
|
|
|
NM_004629.2(FANCG):c.925-2A>G
|
rs397507561
|
|
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_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.1484_1488del (p.Thr495fs)
|
rs397509400
|
|
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.2026G>T (p.Glu676Ter)
|
|
|
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)
|
rs149364215
|
|
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
|
rs774510191
|
|
NM_005236.3(ERCC4):c.2304_2307del (p.Thr770fs)
|
rs869025184
|
|
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs)
|
rs397509401
|
|
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.689T>C (p.Leu230Pro)
|
rs397509402
|
|
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_005732.4(RAD50):c.1174_1177del (p.Gln392fs)
|
rs1554098250
|
|
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs)
|
rs1060501954
|
|
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs)
|
rs587781327
|
|
NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter)
|
rs587780150
|
|
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs)
|
rs764968413
|
|
NM_005732.4(RAD50):c.1631_1635+1del
|
rs1235022794
|
|
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)
|
rs149201802
|
|
NM_005732.4(RAD50):c.1969+1G>A
|
rs587782078
|
|
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)
|
rs397507178
|
|
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)
|
rs786201789
|
|
NM_005732.4(RAD50):c.2395C>T (p.Gln799Ter)
|
rs876658749
|
|
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter)
|
rs1060501936
|
|
NM_005732.4(RAD50):c.2524G>A (p.Val842Ile)
|
rs2149847342
|
|
NM_005732.4(RAD50):c.2620A>T (p.Lys874Ter)
|
rs2149847772
|
|
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs)
|
rs587781930
|
|
NM_005732.4(RAD50):c.2938_2942del (p.Glu979_Leu980insTer)
|
rs1060501942
|
|
NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter)
|
rs1581004859
|
|
NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs)
|
rs587780154
|
|
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)
|
rs1060501941
|
|
NM_005732.4(RAD50):c.3071del (p.Thr1023_Leu1024insTer)
|
rs753950483
|
|
NM_005732.4(RAD50):c.326_329del (p.Thr109fs)
|
rs587780155
|
|
NM_005732.4(RAD50):c.3389+1G>A
|
rs762648843
|
|
NM_005732.4(RAD50):c.3475+2T>C
|
rs761168506
|
|
NM_005732.4(RAD50):c.3763del (p.Ser1255fs)
|
rs760621534
|
|
NM_005732.4(RAD50):c.551+2T>C
|
rs1580987375
|
|
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter)
|
rs587782090
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu)
|
rs1057517674
|
|
NM_006502.2(POLH):c.1075-?_1244+?del
|
|
|
NM_006502.3(POLH):c.106_118del (p.Val36fs)
|
rs2127773185
|
|
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter)
|
rs121908564
|
|
NM_006502.3(POLH):c.222TCT[1] (p.Leu77del)
|
rs1426687865
|
|
NM_006502.3(POLH):c.376C>T (p.Gln126Ter)
|
rs121908563
|
|
NM_006502.3(POLH):c.54_57del (p.Val19fs)
|
rs2127773120
|
|
NM_006502.3(POLH):c.638C>G (p.Ser213Ter)
|
rs763654639
|
|
NM_006502.3(POLH):c.663_764+2del
|
rs2127799895
|
|
NM_006502.3(POLH):c.916G>T (p.Glu306Ter)
|
rs121908562
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
|
rs886040898
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)
|
rs80357346
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)
|
rs1555589094
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)
|
rs80357520
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)
|
rs786202631
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)
|
rs879255295
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
NM_007294.4(BRCA1):c.594_597delTGTG
|
rs797045175
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.744del (p.Thr249fs)
|
rs1060502360
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)
|
rs879255498
|
|
NM_014176.3(UBE2T):c.-65+1253_*12383del
|
|
|
NM_014176.4(UBE2T):c.110-280_468+264del
|
|
|
NM_014176.4(UBE2T):c.110-280_468+264dup
|
|
|
NM_014176.4(UBE2T):c.179+5G>A
|
rs796052212
|
|
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu)
|
rs774357609
|
|
NM_015046.5(SETX):c.[1807A>G;1957C>A]
|
|
|
NM_015046.5(SETX):c.[3880C>T;822G>H]
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter)
|
rs121434381
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro)
|
rs2131461009
|
|
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)
|
rs745775419
|
|
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter)
|
rs121434377
|
|
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs)
|
rs587776536
|
|
NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu)
|
rs2131444517
|
|
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
|
|
|
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
|
|
|
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del)
|
rs587776537
|
|
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter)
|
rs2131440608
|
|
NM_015046.7(SETX):c.387_388+2del
|
|
|
NM_015046.7(SETX):c.4679dup (p.Asn1560fs)
|
rs746973259
|
|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
|
|
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
|
|
|
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs)
|
rs2131428041
|
|
NM_015046.7(SETX):c.5019del (p.Val1674fs)
|
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
NM_015046.7(SETX):c.5264del (p.Thr1755fs)
|
rs776632212
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs)
|
rs1564492117
|
|
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter)
|
rs1844047388
|
|
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter)
|
rs879253866
|
|
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
|
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu)
|
rs28940290
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
NM_015046.7(SETX):c.719G>A (p.Gly240Asp)
|
rs1589757407
|
|
NM_015046.7(SETX):c.7292dup (p.Asn2431fs)
|
rs2131115543
|
|
NM_018062.3(FANCL):c.822-15_822-9delins177
|
|
|
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.217-2A>G
|
|
|
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.375-2033C>G
|
rs1690571577
|
|
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.746_756del (p.Pro249fs)
|
rs2104799800
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
NM_018062.4(FANCL):c.761_771del (p.Leu254fs)
|
rs2104799592
|
|
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_018124.4(RFWD3):c.1916T>A (p.Ile639Lys)
|
rs1555524842
|
|
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs)
|
rs1205970095
|
|
NM_020894.4(UVSSA):c.87del (p.Ile31fs)
|
rs778975867
|
|
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.1222C>T (p.Gln408Ter)
|
|
|
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.248+1G>A
|
rs1480350743
|
|
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.436del (p.Val146fs)
|
rs1767313373
|
|
NM_021922.3(FANCE):c.4_13del (p.Ala2fs)
|
|
|
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
|
|
|
NM_021922.3(FANCE):c.524dup (p.Arg176fs)
|
rs773363446
|
|
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_022725.4(FANCF):c.123dup (p.Arg42fs)
|
rs1858636931
|
|
NM_022725.4(FANCF):c.133_136del (p.His45fs)
|
|
|
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter)
|
rs104894221
|
|
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)
|
rs753272712
|
|
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.283_284del (p.Leu95fs)
|
rs2133798188
|
|
NM_022725.4(FANCF):c.2T>C (p.Met1Thr)
|
rs745495865
|
|
NM_022725.4(FANCF):c.326dup (p.Tyr109Ter)
|
rs2133798073
|
|
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter)
|
rs104894222
|
|
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.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.534del (p.Lys179fs)
|
rs2133797515
|
|
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)
|
|
|
NM_022725.4(FANCF):c.538del (p.Ala180fs)
|
|
|
NM_022725.4(FANCF):c.594_595del (p.Asn199fs)
|
rs2133797345
|
|
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_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)
|
|
|
NM_022836.4(DCLRE1B):c.807C>T (p.His269=)
|
|
|
NM_023077.3(COA7):c.17A>G (p.Asp6Gly)
|
rs780572767
|
|
NM_023077.3(COA7):c.247+1G>T
|
rs1197945739
|
|
NM_023077.3(COA7):c.431del (p.Gly144fs)
|
rs1558102464
|
|
NM_023077.3(COA7):c.446G>T (p.Ser149Ile)
|
rs1558102448
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)
|
rs587780817
|
|
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
rs1060502748
|
|
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs)
|
rs180177113
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2488del (p.Glu830fs)
|
rs876658813
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3114-16_3114-11del
|
rs2142300433
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs)
|
rs180177134
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
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.1186C>G (p.His396Asp)
|
rs1603342316
|
|
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.1340+1G>A
|
rs1555607022
|
|
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.1629-498A>T
|
rs1203185416
|
|
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.1936-2A>G
|
rs878855143
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
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.205+2T>C
|
rs1060501763
|
|
NM_032043.3(BRIP1):c.205+5G>T
|
rs2078948368
|
|
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.2251_2254del (p.Glu751fs)
|
rs1555591308
|
|
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.2576-1G>A
|
rs587782539
|
|
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.765G>T (p.Gln255His)
|
rs2078111971
|
|
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.100C>T (p.Gln34Ter)
|
|
|
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.1163+3dup
|
rs2040719776
|
|
NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)
|
|
|
NM_032444.4(SLX4):c.1367-2A>G
|
rs2040679706
|
|
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.2013+225_3147delinsCC
|
|
|
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.286del (p.Thr96fs)
|
rs1596534281
|
|
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.4391_4403del (p.Ser1464fs)
|
rs1596519879
|
|
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)
|
rs1596519854
|
|
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.4625T>A (p.Leu1542Ter)
|
rs2040540029
|
|
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_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.1026+5_1026+7del
|
rs587781410
|
|
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.572-1G>C
|
rs1413872299
|
|
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_138701.4(MPLKIP):c.505dup (p.Thr169fs)
|
rs768342562
|
|
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter)
|
rs1777038679
|
|
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys)
|
rs1785841426
|
|
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter)
|
rs1777036380
|
|
NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro)
|
rs121434365
|
|
POLH, 2-BP DEL, NT770
|
|
|
POLH, DEL AND TRP297TER
|
|
|
Single allele
|
|
|