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_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)
|
rs104894103
|
0.00044
|
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_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
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_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)
|
rs121434326
|
0.00006
|
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)
|
rs587778281
|
0.00006
|
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)
|
rs121913020
|
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.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
|
rs121918164
|
0.00005
|
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_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_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
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_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)
|
rs41556519
|
0.00003
|
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)
|
rs121908156
|
0.00003
|
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)
|
rs121912628
|
0.00003
|
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
|
rs121434379
|
0.00003
|
NM_000107.3(DDB2):c.818G>A (p.Arg273His)
|
rs121434640
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)
|
rs104894133
|
0.00002
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)
|
rs119467003
|
0.00002
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)
|
rs121434364
|
0.00002
|
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)
|
rs80358695
|
0.00001
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
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.229C>T (p.Arg77Ter)
|
rs121917903
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000380.4(XPA):c.390-1G>C
|
rs750218942
|
0.00001
|
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)
|
rs121913023
|
0.00001
|
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg)
|
rs121913022
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
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.904C>T (p.Arg302Trp)
|
rs121917787
|
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_004628.5(XPC):c.1735C>T (p.Arg579Ter)
|
rs121965088
|
0.00001
|
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)
|
rs121434425
|
0.00001
|
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)
|
rs397509404
|
0.00001
|
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)
|
rs397509403
|
0.00001
|
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr)
|
rs121912629
|
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_007294.4(BRCA1):c.1115G>A (p.Trp372Ter)
|
rs397508838
|
0.00001
|
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)
|
rs121434376
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)
|
rs29001665
|
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_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)
|
rs121434505
|
0.00001
|
NM_023077.3(COA7):c.410A>G (p.Tyr137Cys)
|
rs961876891
|
0.00001
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_032444.4(SLX4):c.1163+2T>A
|
rs773642409
|
0.00001
|
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile)
|
rs369958038
|
0.00001
|
FANCB, 3314-BP DEL
|
|
|
FANCC, 250-BP DEL
|
|
|
MLH1, EX16DEL
|
|
|
MSH6, 4-BP DEL, NT3609
|
|
|
Multiple alleles
|
|
|
NC_000009.12:g.(?_32973498)_(33001604_?)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
|
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
NM_000059.4(BRCA2):c.631+1G>A
|
rs81002897
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
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.8219T>A (p.Leu2740Ter)
|
rs80359070
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8732C>A (p.Ala2911Glu)
|
rs80359130
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000082.3:c.844_1122del
|
|
|
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys)
|
rs281875221
|
|
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)
|
rs121434323
|
|
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.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.471+1G>A
|
rs1558964705
|
|
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.1975del (p.Ser659fs)
|
rs1882806435
|
|
NM_000123.4(ERCC5):c.215C>A (p.Pro72His)
|
rs121434574
|
|
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro)
|
rs121434575
|
|
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_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)
|
rs1590474873
|
|
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.1971_1974dup (p.Thr659fs)
|
rs2132552521
|
|
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)
|
rs1590413260
|
|
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro)
|
rs121917905
|
|
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs)
|
rs758341467
|
|
NM_000124.4(ERCC6):c.972dup (p.Glu325fs)
|
rs387906262
|
|
NM_000135.2(FANCA):c.1007_3066del
|
|
|
NM_000135.2:c.1471_1626del
|
|
|
NM_000135.2:c.1627_1900del
|
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1606del (p.Ser536fs)
|
rs587776570
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter)
|
rs121907930
|
|
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
|
|
|
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg)
|
rs121917785
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000179.3(MSH6):c.1596dup (p.Glu533Ter)
|
rs587779217
|
|
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)
|
rs587779252
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3386_3388del (p.Cys1129_Val1130delinsLeu)
|
rs587776705
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn)
|
rs121912965
|
|
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.218T>G (p.Leu73Arg)
|
rs397514684
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000251.2(MSH2):c.-125_1076+?del
|
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
NM_000251.3(MSH2):c.2006-5T>A
|
rs267607990
|
|
NM_000251.3(MSH2):c.454del (p.Met152fs)
|
rs63751449
|
|
NM_000380.4(XPA):c.172+2T>G
|
rs1587755557
|
|
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_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.2176C>T (p.Gln726Ter)
|
rs121913017
|
|
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer)
|
rs767747355
|
|
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
|
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)
|
rs63750106
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
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.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
|
|
|
NM_001018113.3(FANCB):c.1496+5G>A
|
rs1569085810
|
|
NM_001018113.3(FANCB):c.1668del (p.Asp557fs)
|
rs1569083679
|
|
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.2150T>G (p.Leu717Ter)
|
rs1569083185
|
|
NM_001018113.3(FANCB):c.829dup (p.Cys277fs)
|
rs1602005335
|
|
NM_001018115.1:c.1414_1545del
|
|
|
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)
|
rs121917788
|
|
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)
|
rs886037924
|
|
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)
|
rs886037925
|
|
NM_001033855.3(DCLRE1C):c.362+1G>T
|
rs1564446526
|
|
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)
|
rs121908157
|
|
NM_001033855.3(DCLRE1C):c.780+1del
|
rs786205074
|
|
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.2T>C (p.Met1Thr)
|
rs2052048258
|
|
NM_001113378.2(FANCI):c.3350-88A>G
|
rs2054700381
|
|
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln)
|
rs121918163
|
|
NM_001195248.2(APTX):c.602A>G (p.His201Arg)
|
rs121908133
|
|
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro)
|
rs267606665
|
|
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_001983.4(ERCC1):c.472C>T (p.Gln158Ter)
|
rs121913027
|
|
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)
|
rs121913028
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
NM_002485.5(NBN):c.836_839del (p.Gln279fs)
|
rs864309668
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
NM_002875.5(RAD51):c.391A>C (p.Thr131Pro)
|
rs1895530875
|
|
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)
|
rs1057519413
|
|
NM_004628.4(XPC):c.621_622ins83 (p.?)
|
|
|
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.2033+2T>G
|
rs794729655
|
|
NM_004628.5(XPC):c.413-24A>G
|
rs794729657
|
|
NM_004628.5(XPC):c.413-9T>A
|
rs794729656
|
|
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)
|
rs752088918
|
|
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)
|
rs397507560
|
|
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)
|
rs121434426
|
|
NM_004629.2(FANCG):c.1761-1G>C
|
rs1829035889
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)
|
rs587776640
|
|
NM_004629.2(FANCG):c.925-2A>G
|
rs397507561
|
|
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs)
|
rs397509400
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)
|
rs149364215
|
|
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.689T>C (p.Leu230Pro)
|
rs397509402
|
|
NM_005732.4(RAD50):c.2524G>A (p.Val842Ile)
|
rs2149847342
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu)
|
rs1057517674
|
|
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.663_764+2del
|
rs2127799895
|
|
NM_006502.3(POLH):c.916G>T (p.Glu306Ter)
|
rs121908562
|
|
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)
|
rs80357346
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)
|
rs1555589094
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.594_597delTGTG
|
rs797045175
|
|
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_015046.7(SETX):c.1027G>T (p.Glu343Ter)
|
rs121434381
|
|
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.340CTT[1] (p.Leu115del)
|
rs587776537
|
|
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu)
|
rs28940290
|
|
NM_018062.3(FANCL):c.822-15_822-9delins177
|
|
|
NM_018062.4(FANCL):c.268del (p.Leu90fs)
|
rs869320684
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
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_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter)
|
rs104894221
|
|
NM_022725.4(FANCF):c.219del (p.Arg74fs)
|
rs1858634363
|
|
NM_022725.4(FANCF):c.230_252del (p.Val77fs)
|
rs730880277
|
|
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.438_451del (p.Leu146_Arg147insTer)
|
rs778546226
|
|
NM_022725.4(FANCF):c.484_485del (p.Leu162fs)
|
rs587778340
|
|
NM_022725.4(FANCF):c.534del (p.Lys179fs)
|
rs2133797515
|
|
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_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_032444.4(SLX4):c.1093del (p.Gln365fs)
|
rs1218169126
|
|
NM_032444.4(SLX4):c.1163+2dup
|
rs2040719850
|
|
NM_032444.4(SLX4):c.2013+225_3147delinsCC
|
|
|
NM_032444.4(SLX4):c.286del (p.Thr96fs)
|
rs1596534281
|
|
NM_032444.4(SLX4):c.514del (p.Leu172fs)
|
rs1567178071
|
|
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
|
|
|