NM_000380.4(XPA):c.682C>T (p.Arg228Ter)
|
rs104894132
|
0.00033
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
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_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
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_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
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_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)
|
rs143367518
|
0.00004
|
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val)
|
rs774078839
|
0.00004
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00004
|
NM_000380.4(XPA):c.555+8A>G
|
rs756967163
|
0.00004
|
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)
|
rs121913024
|
0.00004
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
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_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)
|
rs121434570
|
0.00003
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
0.00003
|
NM_000380.4(XPA):c.331G>T (p.Glu111Ter)
|
rs769255883
|
0.00003
|
NM_004628.5(XPC):c.622-2A>C
|
rs201940931
|
0.00003
|
NM_006502.3(POLH):c.1078dup (p.Asp360fs)
|
rs1277794845
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_000124.4(ERCC6):c.2287-2A>G
|
rs754978734
|
0.00002
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
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_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.2005del (p.Arg669fs)
|
rs1233791234
|
0.00002
|
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)
|
rs1450238352
|
0.00002
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)
|
rs80358695
|
0.00001
|
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)
|
rs770499406
|
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.3536del (p.Tyr1179fs)
|
rs786205171
|
0.00001
|
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)
|
rs765825423
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
NM_000380.4(XPA):c.390-1G>C
|
rs750218942
|
0.00001
|
NM_001018115.3(FANCD2):c.1948-6C>A
|
rs779350241
|
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_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
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.658C>T (p.Arg220Ter)
|
rs745679643
|
0.00001
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
NC_000008.10:g.(90990552_90992961)_(90996896_?)del
|
|
|
NC_000011.9:g.(47238024_47238408)_(47254511_47256123)del
|
|
|
NC_000011.9:g.(?_22644078)_(22647388_?)del
|
|
|
NC_000016.9:g.(89806508_89807211)_(89816311_89818545)del
|
|
|
NC_000016.9:g.(89806508_89807211)_(89851373_89857810)del
|
|
|
NC_000016.9:g.(89807275_89809207)_(89851373_89857810)del
|
|
|
NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
|
|
|
NC_000016.9:g.(89828431_89831297)_(89851373_89857810)del
|
|
|
NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
|
|
|
NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
|
|
|
NC_000016.9:g.(89871801_89874701)_(89877480_89880927)del
|
|
|
NC_000016.9:g.(89877480_89880927)_(89883066_?)del
|
|
|
NM_000082.4(ERCC8):c.176T>C (p.Met59Thr)
|
|
|
NM_000082.4(ERCC8):c.275+1G>A
|
|
|
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)
|
rs121434323
|
|
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
|
|
|
NM_000122.2(ERCC3):c.471+1G>A
|
rs1558964705
|
|
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)
|
rs138385061
|
|
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter)
|
rs1283214655
|
|
NM_000123.4(ERCC5):c.1975del (p.Ser659fs)
|
rs1882806435
|
|
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs)
|
rs779078202
|
|
NM_000123.4(ERCC5):c.2751del (p.Lys917fs)
|
rs752661599
|
|
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs)
|
rs1882641004
|
|
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)
|
rs767247987
|
|
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)
|
|
|
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)
|
rs786205172
|
|
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)
|
rs577021605
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
|
|
|
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3494T>G (p.Leu1165Ter)
|
|
|
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.4130C>G (p.Ser1377Ter)
|
rs199599393
|
|
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)
|
rs758528624
|
|
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
|
rs1035139114
|
|
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)
|
rs587779904
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)
|
rs374176091
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000380.4(XPA):c.349_353del (p.Leu117fs)
|
rs1200172747
|
|
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)
|
rs149226993
|
|
NM_000380.4(XPA):c.648_649del (p.Lys217fs)
|
rs1057519018
|
|
NM_000380.4(XPA):c.689dup (p.Arg231fs)
|
rs2131379218
|
|
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)
|
|
|
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
|
|
|
NM_000400.4(ERCC2):c.2190+1del
|
rs1476160722
|
|
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
|
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1533_1534del (p.Asn511fs)
|
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
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_004628.5(XPC):c.1643_1644del (p.Val548fs)
|
rs754532049
|
|
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter)
|
rs1695999145
|
|
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)
|
rs754775337
|
|
NM_004628.5(XPC):c.2T>G (p.Met1Arg)
|
rs760324503
|
|
NM_004628.5(XPC):c.420_423del (p.Glu141fs)
|
rs1330667099
|
|
NM_004628.5(XPC):c.463C>T (p.Arg155Ter)
|
rs755825264
|
|
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)
|
rs752088918
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)
|
rs1829130135
|
|
NM_004629.2(FANCG):c.336del (p.Arg113fs)
|
rs2131058595
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.307C>T (p.Gln103Ter)
|
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
NM_021922.3(FANCE):c.339del (p.Leu114fs)
|
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)
|
|
|