NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs)
|
rs587780262
|
0.00006
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_000038.6(APC):c.1779G>A (p.Trp593Ter)
|
rs1554083132
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000059.3(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del
|
|
|
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)
|
rs1555284465
|
|
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)
|
rs398122618
|
|
NM_000179.2(MSH6):c.878_880delinsT (p.Pro293Leufs)
|
rs1558659626
|
|
NM_000179.3(MSH6):c.2137del (p.Asp713fs)
|
rs864622257
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
NM_000249.3(MLH1):c.(453+1_454-1)_(545+1_546-1)del
|
|
|
NM_000251.2(MSH2):c.(1661+1_1662-1)_(*1_?)del
|
|
|
NM_000251.2(MSH2):c.(?-1)_(1276+1_1277-1)del
|
|
|
NM_000535.6(PMS2):c.(?-1)_(*1_?)del
|
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000546.6(TP53):c.673-1G>A
|
rs878854073
|
|
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)
|
rs5030829
|
|
NM_001042492.3(NF1):c.2455del (p.His819fs)
|
rs1567848761
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_002354.2(EPCAM):c.(903+1_904-1)_(*1_?)del
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)
|
rs149201802
|
|
NM_005732.4(RAD50):c.2260_2266del (p.Leu754fs)
|
rs864622393
|
|
NM_005732.4(RAD50):c.326_329del (p.Thr109fs)
|
rs587780155
|
|
NM_005732.4(RAD50):c.3779_3791dup (p.Leu1264_Leu1265insTer)
|
rs1561661777
|
|
NM_007194.4(CHEK2):c.(908+1_909-1)_(1095+1_1096-1)del
|
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007294.3(BRCA1):c.(441+1_442-1)_(547+1_548-1)del
|
|
|
NM_007294.3(BRCA1):c.(5074+1-5075-1)_(5193+1_5194-1)del
|
|
|
NM_007294.3(BRCA1):c.(5467+1_5468-1)_(*1_?)del
|
|
|
NM_007294.3(BRCA1):c.(80+1_81-1)_(134+1_135-1)del
|
|
|
NM_007294.3(BRCA1):c.(?_-1)_(80+1_81-1)del
|
|
|
NM_007294.4(BRCA1):c.2504dup (p.His835fs)
|
rs1555589513
|
|
NM_007294.4(BRCA1):c.5194-10_5236dup
|
rs1555576921
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)
|
rs1567206756
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)
|
rs1567222143
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_032043.3(BRIP1):c.747del (p.Thr250fs)
|
rs1567838174
|
|
NM_058216.3(RAD51C):c.905-2A>G
|
rs779582317
|
|