NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
|
rs80357498
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter)
|
rs80357472
|
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.1623dup (p.Asn542fs)
|
rs397508891
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter)
|
rs80357118
|
0.00001
|
NM_007294.4(BRCA1):c.1840A>T (p.Lys614Ter)
|
rs80357282
|
0.00001
|
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)
|
rs80357064
|
0.00001
|
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter)
|
rs80357355
|
0.00001
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
NM_007294.4(BRCA1):c.213-11T>G
|
rs80358061
|
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.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
NM_007294.4(BRCA1):c.302-2del
|
rs273899695
|
0.00001
|
NM_007294.4(BRCA1):c.3412G>T (p.Gly1138Ter)
|
rs886040126
|
0.00001
|
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)
|
rs80357509
|
0.00001
|
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)
|
rs80357134
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
NM_007294.4(BRCA1):c.3675C>A (p.Cys1225Ter)
|
rs879254023
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4097-2A>G
|
rs80358019
|
0.00001
|
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)
|
rs80356989
|
0.00001
|
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs)
|
rs80357981
|
0.00001
|
NM_007294.4(BRCA1):c.4357+1G>A
|
rs80358027
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)
|
rs80357437
|
0.00001
|
NM_007294.4(BRCA1):c.4573C>T (p.Gln1525Ter)
|
rs886040237
|
0.00001
|
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)
|
rs80357366
|
0.00001
|
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
|
rs80356988
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile)
|
rs80357043
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter)
|
rs80357418
|
0.00001
|
NM_007294.4(BRCA1):c.514del (p.Gln172fs)
|
rs80357872
|
0.00001
|
NM_007294.4(BRCA1):c.5277G>A (p.Lys1759=)
|
rs80356854
|
0.00001
|
NM_007294.4(BRCA1):c.5278-1G>C
|
rs80358099
|
0.00001
|
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)
|
rs41293463
|
0.00001
|
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)
|
rs80357069
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5467+1G>A
|
rs80358145
|
0.00001
|
NM_007294.4(BRCA1):c.5467+2T>C
|
rs80358009
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs)
|
rs80357707
|
0.00001
|
NG_005905.2:g.(102259_111450)_(172307_?)del
|
|
|
NG_005905.2:g.(113863_118103)_(172307_?)del
|
|
|
NG_005905.2:g.(122139_123344)_(126550_126951)dup
|
|
|
NG_005905.2:g.(147057_150288)_(172307_?)del
|
|
|
NG_005905.2:g.(150290_154032)_(172307_?)del
|
|
|
NG_005905.2:g.(154652_160848)_(172307_?)del
|
|
|
NG_005905.2:g.(160933_166866)_(172307_?)del
|
|
|
NG_005905.2:g.(168864_170280)_(172307_?)del
|
|
|
NG_005905.2:g.(170342_172181)_(172307_?)del
|
|
|
NG_005905.2:g.(92714_93868)_(172307_?)del
|
|
|
NG_005905.2:g.(?_92501)_(102259_111450)del
|
|
|
NG_005905.2:g.(?_92501)_(113863_118103)del
|
|
|
NG_005905.2:g.(?_92501)_(126550_126951)del
|
|
|
NG_005905.2:g.(?_92501)_(127041_135408)del
|
|
|
NG_005905.2:g.(?_92501)_(135581_1441370)del
|
|
|
NG_005905.2:g.(?_92501)_(135581_1441370)del(;)(147057_150288)_(160933_166866)del
|
|
|
NG_005905.2:g.(?_92501)_(141497_143462)del
|
|
|
NG_005905.2:g.(?_92501)_(150377_154032)del
|
|
|
NG_005905.2:g.(?_92501)_(154652_160848)del
|
|
|
NG_005905.2:g.(?_92501)_(160933_166866)del
|
|
|
NG_005905.2:g.(?_92501)_(166922_168789)del
|
|
|
NG_005905.2:g.(?_92501)_(168862_170280)del
|
|
|
NG_005905.2:g.(?_92501)_(168862_170280)dup
|
|
|
NG_005905.2:g.(?_92501)_(170342_172181)del
|
|
|
NG_005905.2:g.(?_92501)_(172307_?)del
|
|
|
NG_005905.2:g.(?_92501)_(92714_93868)del
|
|
|
NG_005905.2:g.(?_92501)_(93968_102204)del
|
|
|
NG_005905.2:g.(?_92501)_(93968_102204)dup
|
|
|
NG_005905.2:g.110966_142550del
|
|
|
NG_005905.2:g.116321_140085del
|
|
|
NG_005905.2:g.118449_154829del
|
|
|
NG_005905.2:g.133626_139705dup
|
|
|
NG_005905.2:g.152586_159830delins27
|
|
|
NG_005905.2:g.152940_163021dup
|
|
|
NG_005905.2:g.61068_98138del
|
|
|
NM_007294.3(BRCA1):c.-19-48_80+248delins[U77841.1:g.2145_2536]
|
|
|
NM_007294.3(BRCA1):c.-19-?_80+?del
|
|
|
NM_007294.3(BRCA1):c.-19-?_80+?dup
|
|
|
NM_007294.3(BRCA1):c.-7620_80+468delins8
|
|
|
NM_007294.3(BRCA1):c.135-?_212+?del
|
|
|
NM_007294.3(BRCA1):c.135-?_301+?del
|
|
|
NM_007294.3(BRCA1):c.135-?_4185+?del
|
|
|
NM_007294.3(BRCA1):c.135-?_441+?del
|
|
|
NM_007294.3(BRCA1):c.135-?_441+?dup
|
|
|
NM_007294.3(BRCA1):c.135-?_4484+?del
|
|
|
NM_007294.3(BRCA1):c.135-?_547+?del
|
|
|
NM_007294.3(BRCA1):c.135-?_547+?dup
|
|
|
NM_007294.3(BRCA1):c.135-?_670+?del
|
|
|
NM_007294.3(BRCA1):c.1393_1394ins10 (p.?)
|
|
|
NM_007294.3(BRCA1):c.1604_1612delGAACTAACCins13 (p.?)
|
|
|
NM_007294.3(BRCA1):c.213-?_441+?del
|
|
|
NM_007294.3(BRCA1):c.2504_2505ins17 (p.?)
|
|
|
NM_007294.3(BRCA1):c.288_292delCACAGins7
|
|
|
NM_007294.3(BRCA1):c.302-?_593+?del
|
|
|
NM_007294.3(BRCA1):c.3052_3053ins5
|
|
|
NM_007294.3(BRCA1):c.3075_3076ins76 (p.?)
|
|
|
NM_007294.3(BRCA1):c.3076_3077ins76 (p.?)
|
|
|
NM_007294.3(BRCA1):c.3388_3408del21ins16 (p.?)
|
|
|
NM_007294.3(BRCA1):c.4186-?_4357+?del
|
|
|
NM_007294.3(BRCA1):c.4186-?_4357+?dup172
|
|
|
NM_007294.3(BRCA1):c.4186-?_4484+?del
|
|
|
NM_007294.3(BRCA1):c.4186-?_4675+?del
|
|
|
NM_007294.3(BRCA1):c.4186-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.4186-?_5277+?del
|
|
|
NM_007294.3(BRCA1):c.4358-?_4484+?del
|
|
|
NM_007294.3(BRCA1):c.4358-?_4484+?dup
|
|
|
NM_007294.3(BRCA1):c.4358-?_4986+?del
|
|
|
NM_007294.3(BRCA1):c.4358-?_4986+?dup
|
|
|
NM_007294.3(BRCA1):c.4358-?_5074+?del
|
|
|
NM_007294.3(BRCA1):c.4358-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.4358-?_5277+?del
|
|
|
NM_007294.3(BRCA1):c.438_439ins25 (p.?)
|
|
|
NM_007294.3(BRCA1):c.442-?_4185+?del
|
|
|
NM_007294.3(BRCA1):c.442-?_4357+?del
|
|
|
NM_007294.3(BRCA1):c.442-?_5277+?dup
|
|
|
NM_007294.3(BRCA1):c.442-?_5467+?del
|
|
|
NM_007294.3(BRCA1):c.442-?_547+?del
|
|
|
NM_007294.3(BRCA1):c.442-?_547+?dup
|
|
|
NM_007294.3(BRCA1):c.442-?_593+?del
|
|
|
NM_007294.3(BRCA1):c.442-?_670+?del
|
|
|
NM_007294.3(BRCA1):c.4485-?_4675+?del
|
|
|
NM_007294.3(BRCA1):c.4485-?_4675+?dup
|
|
|
NM_007294.3(BRCA1):c.4485-?_4986+?del
|
|
|
NM_007294.3(BRCA1):c.4485-?_5074+?del
|
|
|
NM_007294.3(BRCA1):c.4676-?_4986+?del
|
|
|
NM_007294.3(BRCA1):c.4676-?_5074+?del
|
|
|
NM_007294.3(BRCA1):c.4676-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.4676-?_5467+?del
|
|
|
NM_007294.3(BRCA1):c.4986+1_4986+2ins65
|
|
|
NM_007294.3(BRCA1):c.4987-?_5074+?del
|
|
|
NM_007294.3(BRCA1):c.4987-?_5152+?del
|
|
|
NM_007294.3(BRCA1):c.4987-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.4987-?_5277+?del
|
|
|
NM_007294.3(BRCA1):c.5033_5034ins4
|
|
|
NM_007294.3(BRCA1):c.5075-?_5152+?del
|
|
|
NM_007294.3(BRCA1):c.5075-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.5075-?_5193+?dup
|
|
|
NM_007294.3(BRCA1):c.5075-?_5277+?del
|
|
|
NM_007294.3(BRCA1):c.5075-?_5277+?dup203
|
|
|
NM_007294.3(BRCA1):c.5153-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.5155delG
|
rs80357743
|
|
NM_007294.3(BRCA1):c.5194-1699_5277+1996delins236
|
|
|
NM_007294.3(BRCA1):c.5194-1730_5277+1996delins268
|
|
|
NM_007294.3(BRCA1):c.5194-?_5277+?delinsG
|
|
|
NM_007294.3(BRCA1):c.5194-?_5277+?dup
|
|
|
NM_007294.3(BRCA1):c.5277+833_5277+1671delins141
|
|
|
NM_007294.3(BRCA1):c.5278-?_5332+?del
|
|
|
NM_007294.3(BRCA1):c.5278-?_5406+?del
|
|
|
NM_007294.3(BRCA1):c.5278-?_5406+?dup
|
|
|
NM_007294.3(BRCA1):c.5278-?_5467+?del
|
|
|
NM_007294.3(BRCA1):c.5278-?_5467+?dup
|
|
|
NM_007294.3(BRCA1):c.5333-?_5406+?del
|
|
|
NM_007294.3(BRCA1):c.5407-?_5467+?del
|
|
|
NM_007294.3(BRCA1):c.5407-?_5467+?dup
|
|
|
NM_007294.3(BRCA1):c.5468-285_*4016delinsCA
|
|
|
NM_007294.3(BRCA1):c.548-?_4185+?del
|
|
|
NM_007294.3(BRCA1):c.548-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.594-?_4484+?del
|
|
|
NM_007294.3(BRCA1):c.671-?_4185+?del
|
|
|
NM_007294.3(BRCA1):c.671-?_4484+?del
|
|
|
NM_007294.3(BRCA1):c.671-?_4675+?del
|
|
|
NM_007294.3(BRCA1):c.81-?_134+?del
|
|
|
NM_007294.3(BRCA1):c.81-?_134+?dup
|
|
|
NM_007294.3(BRCA1):c.81-?_4185+?del
|
|
|
NM_007294.3(BRCA1):c.81-?_441+?del
|
|
|
NM_007294.3(BRCA1):c.81-?_4986+?del
|
|
|
NM_007294.3(BRCA1):c.81-?_5152+?dup
|
|
|
NM_007294.3(BRCA1):c.81-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.81-?_547+?dup
|
|
|
NM_007294.3(BRCA1):c.851_852ins7
|
|
|
NM_007294.3(BRCA1):c.[5243_5277+2788del;5277+2916_5277+2946delinsGG]
|
|
|
NM_007294.3:c.(671_4096)ins(300)
|
|
|
NM_007294.3:c.1642_1650delins2
|
|
|
NM_007294.3:c.2954_2958delins3
|
|
|
NM_007294.3:c.3049_3050ins7
|
|
|
NM_007294.4(BRCA1):c.(5193+1_5194-1)_(5277+1_5278-1)del
|
|
|
NM_007294.4(BRCA1):c.-19-2A>G
|
rs886040902
|
|
NM_007294.4(BRCA1):c.1008dup (p.Glu337fs)
|
rs67284603
|
|
NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter)
|
rs397508826
|
|
NM_007294.4(BRCA1):c.1016_1017insC (p.Lys339fs)
|
rs1555592653
|
|
NM_007294.4(BRCA1):c.1016del (p.Lys339fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1017_1018insA (p.Val340fs)
|
rs886039921
|
|
NM_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer)
|
rs80357774
|
|
NM_007294.4(BRCA1):c.101_105del (p.Pro34fs)
|
rs886039920
|
|
NM_007294.4(BRCA1):c.102del (p.Val35fs)
|
rs886039922
|
|
NM_007294.4(BRCA1):c.1039_1040del (p.Leu347fs)
|
rs397508827
|
|
NM_007294.4(BRCA1):c.1044_1045insTCAC (p.Glu349fs)
|
rs886039923
|
|
NM_007294.4(BRCA1):c.1044_1047del (p.Leu347_Cys348insTer)
|
rs886039924
|
|
NM_007294.4(BRCA1):c.1045G>T (p.Glu349Ter)
|
rs80357338
|
|
NM_007294.4(BRCA1):c.1049_1050del (p.Arg350fs)
|
rs886039925
|
|
NM_007294.4(BRCA1):c.1054del (p.Glu352fs)
|
rs886039926
|
|
NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter)
|
rs80356908
|
|
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)
|
rs80356935
|
|
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)
|
rs80357215
|
|
NM_007294.4(BRCA1):c.1067del (p.Gln356fs)
|
rs80357796
|
|
NM_007294.4(BRCA1):c.1068_1077del (p.Gln356fs)
|
rs397508830
|
|
NM_007294.4(BRCA1):c.1072del (p.Leu358fs)
|
rs80357836
|
|
NM_007294.4(BRCA1):c.1080C>A (p.Cys360Ter)
|
rs886037986
|
|
NM_007294.4(BRCA1):c.1082C>G (p.Ser361Ter)
|
rs397508833
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1086_1087del (p.Asn363fs)
|
rs80357897
|
|
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)
|
rs80359875
|
|
NM_007294.4(BRCA1):c.1088del (p.Asn363fs)
|
rs80357954
|
|
NM_007294.4(BRCA1):c.1091del (p.Pro364fs)
|
rs397508834
|
|
NM_007294.4(BRCA1):c.1101_1102insC (p.Glu368fs)
|
rs80357665
|
|
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter)
|
rs80357139
|
|
NM_007294.4(BRCA1):c.1104del (p.Asp369fs)
|
rs886039927
|
|
NM_007294.4(BRCA1):c.1105dup (p.Asp369fs)
|
rs1555592498
|
|
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)
|
rs80357468
|
|
NM_007294.4(BRCA1):c.1121_1123delinsT (p.Thr374fs)
|
rs273897652
|
|
NM_007294.4(BRCA1):c.1121del (p.Thr374fs)
|
rs80357612
|
|
NM_007294.4(BRCA1):c.1125_1132del (p.Asn376fs)
|
rs886039928
|
|
NM_007294.4(BRCA1):c.1127del (p.Asn376fs)
|
rs80357821
|
|
NM_007294.4(BRCA1):c.1129dup (p.Ser377fs)
|
rs80357776
|
|
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)
|
rs80357949
|
|
NM_007294.4(BRCA1):c.1138C>T (p.Gln380Ter)
|
rs397508840
|
|
NM_007294.4(BRCA1):c.1140del (p.Val382fs)
|
rs886039929
|
|
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)
|
rs80357385
|
|
NM_007294.4(BRCA1):c.1148_1149del (p.Asn383fs)
|
rs431825384
|
|
NM_007294.4(BRCA1):c.1150G>T (p.Glu384Ter)
|
rs878853288
|
|
NM_007294.4(BRCA1):c.1152dup (p.Trp385fs)
|
rs397508841
|
|
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.1165del (p.Ser389fs)
|
rs80357985
|
|
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)
|
rs80357498
|
|
NM_007294.4(BRCA1):c.1171G>T (p.Glu391Ter)
|
rs562553169
|
|
NM_007294.4(BRCA1):c.1174del (p.Leu392fs)
|
rs886039930
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1179_1180insT (p.Gly394fs)
|
rs886039931
|
|
NM_007294.4(BRCA1):c.117T>G (p.Cys39Trp)
|
rs886040898
|
|
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer)
|
rs80357972
|
|
NM_007294.4(BRCA1):c.1190del (p.Asp397fs)
|
rs748714307
|
|
NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter)
|
rs273897655
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1209_1210del (p.Glu404fs)
|
rs886039932
|
|
NM_007294.4(BRCA1):c.1209dup (p.Glu404Ter)
|
rs886039933
|
|
NM_007294.4(BRCA1):c.1210_1211insCT (p.Glu404fs)
|
rs886039934
|
|
NM_007294.4(BRCA1):c.1222A>T (p.Lys408Ter)
|
rs80357253
|
|
NM_007294.4(BRCA1):c.1227_1230dup (p.Asp411delinsSerTer)
|
rs886039935
|
|
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.1232_1233del (p.Asp411fs)
|
rs397508848
|
|
NM_007294.4(BRCA1):c.1241dup (p.Asp414fs)
|
rs80357514
|
|
NM_007294.4(BRCA1):c.124del (p.Ile42fs)
|
rs80357943
|
|
NM_007294.4(BRCA1):c.1251_1252delinsA (p.Asn417fs)
|
rs886040899
|
|
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter)
|
rs80357083
|
|
NM_007294.4(BRCA1):c.1252dup (p.Glu418fs)
|
rs886039936
|
|
NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer)
|
rs80357535
|
|
NM_007294.4(BRCA1):c.1257del (p.Asp420fs)
|
rs886037988
|
|
NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter)
|
rs80357046
|
|
NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter)
|
rs80357417
|
|
NM_007294.4(BRCA1):c.1273dup (p.Ser425fs)
|
rs886039938
|
|
NM_007294.4(BRCA1):c.1277C>A (p.Ser426Ter)
|
rs886039939
|
|
NM_007294.4(BRCA1):c.1277C>G (p.Ser426Ter)
|
rs886039939
|
|
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)
|
rs80357576
|
|
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)
|
rs80357346
|
|
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1297del (p.Ala433fs)
|
rs80357794
|
|
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.130del (p.Cys44fs)
|
rs80357951
|
|
NM_007294.4(BRCA1):c.1319del (p.Ala439_Leu440insTer)
|
rs80357683
|
|
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.1323_1324del (p.Ile441fs)
|
rs80357570
|
|
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter)
|
rs397508854
|
|
NM_007294.4(BRCA1):c.1327_1345del (p.Lys443fs)
|
rs886039942
|
|
NM_007294.4(BRCA1):c.132C>T (p.Cys44=)
|
rs876658362
|
|
NM_007294.4(BRCA1):c.1333G>T (p.Glu445Ter)
|
rs80356915
|
|
NM_007294.4(BRCA1):c.1333del (p.Glu445fs)
|
rs886039943
|
|
NM_007294.4(BRCA1):c.1335_1336del (p.Arg446fs)
|
rs80357978
|
|
NM_007294.4(BRCA1):c.1336del (p.Arg446fs)
|
rs80357978
|
|
NM_007294.4(BRCA1):c.133_134+3delinsT
|
rs397508856
|
|
NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs)
|
rs397508857
|
|
NM_007294.4(BRCA1):c.134+1G>A
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+1G>T
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+2T>C
|
rs80358131
|
|
NM_007294.4(BRCA1):c.134+2T>G
|
rs80358131
|
|
NM_007294.4(BRCA1):c.134+2del
|
rs273897657
|
|
NM_007294.4(BRCA1):c.134+3A>C
|
rs80358064
|
|
NM_007294.4(BRCA1):c.134+3_134+4insT
|
rs886041002
|
|
NM_007294.4(BRCA1):c.134+3_134+6del
|
rs397508858
|
|
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs)
|
rs80357597
|
|
NM_007294.4(BRCA1):c.1347del (p.Lys450fs)
|
rs886039945
|
|
NM_007294.4(BRCA1):c.135-1004_441+1609del
|
|
|
NM_007294.4(BRCA1):c.135-1206_441+1607del
|
|
|
NM_007294.4(BRCA1):c.135-1G>C
|
rs80358158
|
|
NM_007294.4(BRCA1):c.135-2A>G
|
rs80358065
|
|
NM_007294.4(BRCA1):c.1352C>A (p.Ser451Ter)
|
rs80356891
|
|
NM_007294.4(BRCA1):c.1354del (p.Ser451_Val452insTer)
|
rs886039946
|
|
NM_007294.4(BRCA1):c.1356del (p.Glu453fs)
|
rs80357939
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1371del (p.Asp458fs)
|
rs397508861
|
|
NM_007294.4(BRCA1):c.1374del (p.Asp458fs)
|
rs397508862
|
|
NM_007294.4(BRCA1):c.1375A>T (p.Lys459Ter)
|
rs886039947
|
|
NM_007294.4(BRCA1):c.1378dup (p.Ile460fs)
|
rs398122633
|
|
NM_007294.4(BRCA1):c.1379del (p.Ile460fs)
|
rs886039949
|
|
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)
|
rs80357714
|
|
NM_007294.4(BRCA1):c.1386del (p.Thr464fs)
|
rs80357722
|
|
NM_007294.4(BRCA1):c.1390del (p.Thr464fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1390dup (p.Thr464fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1392del (p.Tyr465fs)
|
rs80357592
|
|
NM_007294.4(BRCA1):c.139T>A (p.Cys47Ser)
|
rs80357370
|
|
NM_007294.4(BRCA1):c.1403del (p.Lys468fs)
|
rs397508870
|
|
NM_007294.4(BRCA1):c.1405del (p.Ala469fs)
|
rs397508871
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.140_141insT (p.Met48fs)
|
rs886039950
|
|
NM_007294.4(BRCA1):c.1412dup (p.Asn473fs)
|
rs886039951
|
|
NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter)
|
rs80357490
|
|
NM_007294.4(BRCA1):c.1428_1437del (p.His476fs)
|
rs886039953
|
|
NM_007294.4(BRCA1):c.1439dup (p.Asn480fs)
|
rs80357505
|
|
NM_007294.4(BRCA1):c.143del (p.Met48fs)
|
rs80357637
|
|
NM_007294.4(BRCA1):c.1440_1441insA (p.Leu481fs)
|
rs80357778
|
|
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer)
|
rs80357801
|
|
NM_007294.4(BRCA1):c.1444del (p.Ile482fs)
|
rs80357648
|
|
NM_007294.4(BRCA1):c.144del (p.Met48fs)
|
rs80357682
|
|
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter)
|
rs80357304
|
|
NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter)
|
rs80357167
|
|
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)
|
rs62625303
|
|
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)
|
rs80357010
|
|
NM_007294.4(BRCA1):c.1483_1498del (p.Glu495fs)
|
rs397508872
|
|
NM_007294.4(BRCA1):c.1488del (p.Leu498fs)
|
rs587782251
|
|
NM_007294.4(BRCA1):c.1492del (p.Leu498fs)
|
rs80357527
|
|
NM_007294.4(BRCA1):c.1499del (p.Asn500fs)
|
rs397508874
|
|
NM_007294.4(BRCA1):c.1504_1507del (p.Leu502fs)
|
rs886039955
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1505T>G (p.Leu502Ter)
|
rs886039957
|
|
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)
|
rs876659139
|
|
NM_007294.4(BRCA1):c.1508del (p.Lys503fs)
|
rs80357506
|
|
NM_007294.4(BRCA1):c.150del (p.Lys50fs)
|
rs273897662
|
|
NM_007294.4(BRCA1):c.1510del (p.Arg504fs)
|
rs80357908
|
|
NM_007294.4(BRCA1):c.1511dup (p.Arg504_Lys505insTer)
|
rs80357817
|
|
NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter)
|
rs398122636
|
|
NM_007294.4(BRCA1):c.1513A>T (p.Lys505Ter)
|
rs397508877
|
|
NM_007294.4(BRCA1):c.1513_1514insT (p.Lys505fs)
|
rs397508878
|
|
NM_007294.4(BRCA1):c.1523del (p.Pro508fs)
|
rs80357782
|
|
NM_007294.4(BRCA1):c.1529C>A (p.Ser510Ter)
|
rs80357427
|
|
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter)
|
rs80357427
|
|
NM_007294.4(BRCA1):c.1530del (p.Gly511fs)
|
rs80357735
|
|
NM_007294.4(BRCA1):c.1551del (p.Phe517fs)
|
rs80357630
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1575del (p.Gln526fs)
|
rs879255478
|
|
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter)
|
rs80356984
|
|
NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs)
|
rs431825387
|
|
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter)
|
rs142074233
|
|
NM_007294.4(BRCA1):c.1601_1602del (p.Gln534fs)
|
rs878854933
|
|
NM_007294.4(BRCA1):c.1601dup (p.Thr536fs)
|
rs397508889
|
|
NM_007294.4(BRCA1):c.1608_1611del (p.Asn537fs)
|
rs80357698
|
|
NM_007294.4(BRCA1):c.160C>T (p.Gln54Ter)
|
rs80356864
|
|
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)
|
rs80356893
|
|
NM_007294.4(BRCA1):c.1616_1625del (p.Thr539fs)
|
rs886039959
|
|
NM_007294.4(BRCA1):c.1618G>T (p.Glu540Ter)
|
rs730881471
|
|
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)
|
rs80356904
|
|
NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter)
|
rs80356952
|
|
NM_007294.4(BRCA1):c.1637_1685delinsGAAAG (p.Met546fs)
|
rs483353085
|
|
NM_007294.4(BRCA1):c.1642_1643del (p.Ile548fs)
|
rs886039960
|
|
NM_007294.4(BRCA1):c.1649del (p.Asn550fs)
|
rs80357619
|
|
NM_007294.4(BRCA1):c.1651_1652insC (p.Ser551fs)
|
rs886039961
|
|
NM_007294.4(BRCA1):c.1669del (p.Thr557fs)
|
rs886039962
|
|
NM_007294.4(BRCA1):c.1673_1674del (p.Lys558fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1693G>T (p.Glu565Ter)
|
rs886039963
|
|
NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs)
|
rs80357640
|
|
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)
|
rs730881473
|
|
NM_007294.4(BRCA1):c.1716del (p.Glu572fs)
|
rs397508900
|
|
NM_007294.4(BRCA1):c.171del (p.Pro58fs)
|
rs80357660
|
|
NM_007294.4(BRCA1):c.171dup (p.Pro58fs)
|
rs80357660
|
|
NM_007294.4(BRCA1):c.1723G>T (p.Glu575Ter)
|
rs397508902
|
|
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter)
|
rs397508903
|
|
NM_007294.4(BRCA1):c.1733_1734del (p.Ser578fs)
|
rs886037991
|
|
NM_007294.4(BRCA1):c.1747A>T (p.Lys583Ter)
|
rs80356928
|
|
NM_007294.4(BRCA1):c.1757del (p.Pro586fs)
|
rs80357723
|
|
NM_007294.4(BRCA1):c.1762dup (p.Ser588fs)
|
rs886039966
|
|
NM_007294.4(BRCA1):c.176C>A (p.Ser59Ter)
|
rs199522616
|
|
NM_007294.4(BRCA1):c.1772del (p.Ile591fs)
|
rs80357901
|
|
NM_007294.4(BRCA1):c.1779_1785del (p.Met594fs)
|
rs886039967
|
|
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)
|
rs80357471
|
|
NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter)
|
rs80357118
|
|
NM_007294.4(BRCA1):c.1795_1798del (p.Asn599fs)
|
rs886039968
|
|
NM_007294.4(BRCA1):c.179dup (p.Cys61fs)
|
rs886039969
|
|
NM_007294.4(BRCA1):c.1803del (p.His601fs)
|
rs886039970
|
|
NM_007294.4(BRCA1):c.1805del (p.Asn602fs)
|
rs397508908
|
|
NM_007294.4(BRCA1):c.1808C>G (p.Ser603Ter)
|
rs397508909
|
|
NM_007294.4(BRCA1):c.1812del (p.Ala605fs)
|
rs80357927
|
|
NM_007294.4(BRCA1):c.1819A>T (p.Lys607Ter)
|
rs80357220
|
|
NM_007294.4(BRCA1):c.181T>A (p.Cys61Ser)
|
rs28897672
|
|
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)
|
rs28897672
|
|
NM_007294.4(BRCA1):c.1820_1823del (p.Lys607fs)
|
rs397508911
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.1823del (p.Lys608fs)
|
rs397508911
|
|
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)
|
rs80357093
|
|
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs)
|
rs397508912
|
|
NM_007294.4(BRCA1):c.182_183insGCGC (p.Cys61fs)
|
rs886039971
|
|
NM_007294.4(BRCA1):c.1831del (p.Arg610_Leu611insTer)
|
rs397508913
|
|
NM_007294.4(BRCA1):c.1844_1845insG (p.Ser616fs)
|
rs886039973
|
|
NM_007294.4(BRCA1):c.1860del (p.His621fs)
|
rs730881459
|
|
NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter)
|
rs80356950
|
|
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)
|
rs80357516
|
|
NM_007294.4(BRCA1):c.1878_1879insTAGT (p.Val627Ter)
|
rs886039975
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
NM_007294.4(BRCA1):c.1885del (p.Arg629fs)
|
rs886039976
|
|
NM_007294.4(BRCA1):c.1887_1900dup (p.Pro634delinsGlnIleTer)
|
rs886039977
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.1892dup (p.Ser632fs)
|
rs80357932
|
|
NM_007294.4(BRCA1):c.1893_1894insT (p.Ser632Ter)
|
rs80357768
|
|
NM_007294.4(BRCA1):c.1898del (p.Pro633fs)
|
rs80357851
|
|
NM_007294.4(BRCA1):c.1905_1909del (p.Asn635_Cys636insTer)
|
rs886039979
|
|
NM_007294.4(BRCA1):c.1906del (p.Cys636fs)
|
rs397508916
|
|
NM_007294.4(BRCA1):c.1908_1911del (p.Cys636fs)
|
rs886039980
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.1912G>T (p.Glu638Ter)
|
rs80357005
|
|
NM_007294.4(BRCA1):c.1912del (p.Glu638fs)
|
rs80357933
|
|
NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter)
|
rs80357267
|
|
NM_007294.4(BRCA1):c.1918C>T (p.Gln640Ter)
|
rs886039981
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)
|
rs397507194
|
|
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)
|
rs587781632
|
|
NM_007294.4(BRCA1):c.1930del (p.Cys644fs)
|
rs886039982
|
|
NM_007294.4(BRCA1):c.1936del (p.Ser646fs)
|
rs397508919
|
|
NM_007294.4(BRCA1):c.1938_1945del (p.Ser646fs)
|
rs886039983
|
|
NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs)
|
rs397508920
|
|
NM_007294.4(BRCA1):c.1942G>T (p.Glu648Ter)
|
rs886039984
|
|
NM_007294.4(BRCA1):c.1945G>T (p.Glu649Ter)
|
rs80356907
|
|
NM_007294.4(BRCA1):c.1949_1950del (p.Ile650fs)
|
rs397508921
|
|
NM_007294.4(BRCA1):c.1949_1952del (p.Ile650fs)
|
rs886039985
|
|
NM_007294.4(BRCA1):c.1952del (p.Lys651fs)
|
rs80357885
|
|
NM_007294.4(BRCA1):c.1952dup (p.Lys652fs)
|
rs80357885
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.1953del (p.Lys654fs)
|
rs886039986
|
|
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs)
|
rs80357753
|
|
NM_007294.4(BRCA1):c.1958_1961del (p.Lys653fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.195del (p.Asn66fs)
|
rs80357869
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter)
|
rs886039987
|
|
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)
|
rs397508926
|
|
NM_007294.4(BRCA1):c.1972del (p.Met658fs)
|
rs397507195
|
|
NM_007294.4(BRCA1):c.1978del (p.Val660fs)
|
rs886039988
|
|
NM_007294.4(BRCA1):c.1996del (p.Leu666fs)
|
rs80357922
|
|
NM_007294.4(BRCA1):c.19_47del (p.Arg7fs)
|
rs80359871
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)
|
rs80357521
|
|
NM_007294.4(BRCA1):c.2012dup (p.Gly671_Lys672insTer)
|
rs886039989
|
|
NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter)
|
rs397508929
|
|
NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter)
|
rs80357391
|
|
NM_007294.4(BRCA1):c.2019del (p.Glu673fs)
|
rs80357626
|
|
NM_007294.4(BRCA1):c.202dup (p.Ile68fs)
|
rs886039990
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs)
|
rs397508932
|
|
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)
|
rs863224510
|
|
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)
|
rs273898674
|
|
NM_007294.4(BRCA1):c.2063_2066del (p.Thr688fs)
|
rs397508935
|
|
NM_007294.4(BRCA1):c.2066_2069del (p.Ser689fs)
|
rs886037994
|
|
NM_007294.4(BRCA1):c.2068A>T (p.Lys690Ter)
|
rs587781448
|
|
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2074del (p.His692fs)
|
rs80357554
|
|
NM_007294.4(BRCA1):c.2077_2078insTA (p.Asp693fs)
|
rs80357595
|
|
NM_007294.4(BRCA1):c.2077delinsATA (p.Asp693fs)
|
rs886039991
|
|
NM_007294.4(BRCA1):c.2078_2079insTA (p.Ser694fs)
|
rs886039992
|
|
NM_007294.4(BRCA1):c.2080dup (p.Ser694fs)
|
rs886039993
|
|
NM_007294.4(BRCA1):c.2086_2089del (p.Thr696fs)
|
rs886039994
|
|
NM_007294.4(BRCA1):c.2086dup (p.Thr696fs)
|
rs886039995
|
|
NM_007294.4(BRCA1):c.2090dup (p.Glu699fs)
|
rs886039996
|
|
NM_007294.4(BRCA1):c.2105del (p.Lys701_Leu702insTer)
|
rs80357880
|
|
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)
|
rs80357880
|
|
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)
|
rs80357814
|
|
NM_007294.4(BRCA1):c.2112_2131dup (p.Lys711fs)
|
rs886039998
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.211del (p.Arg71fs)
|
rs397508938
|
|
NM_007294.4(BRCA1):c.212+1G>A
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+1G>C
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+2T>C
|
rs80358026
|
|
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs)
|
rs80357871
|
|
NM_007294.4(BRCA1):c.2125_2126insAGT (p.Phe709Ter)
|
rs1555590428
|
|
NM_007294.4(BRCA1):c.2126_2127del (p.Phe709fs)
|
rs397508939
|
|
NM_007294.4(BRCA1):c.2127_2128insGA (p.Thr710fs)
|
rs886039999
|
|
NM_007294.4(BRCA1):c.2127del (p.Phe709fs)
|
rs397508939
|
|
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.213-15A>G
|
rs886040903
|
|
NM_007294.4(BRCA1):c.213-1G>A
|
rs80358146
|
|
NM_007294.4(BRCA1):c.213-1G>T
|
rs80358146
|
|
NM_007294.4(BRCA1):c.213-2A>C
|
rs397508940
|
|
NM_007294.4(BRCA1):c.213-2A>G
|
rs397508940
|
|
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)
|
rs398122653
|
|
NM_007294.4(BRCA1):c.2135_2136del (p.Cys712fs)
|
rs886040001
|
|
NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter)
|
rs80357233
|
|
NM_007294.4(BRCA1):c.2138_2139dup (p.Asn714fs)
|
rs886040002
|
|
NM_007294.4(BRCA1):c.2142_2144delinsAG (p.Asn714fs)
|
rs886040003
|
|
NM_007294.4(BRCA1):c.2142del (p.Asn714fs)
|
rs273898679
|
|
NM_007294.4(BRCA1):c.2149G>T (p.Glu717Ter)
|
rs886040004
|
|
NM_007294.4(BRCA1):c.2155A>T (p.Lys719Ter)
|
rs80357147
|
|
NM_007294.4(BRCA1):c.2155_2168del (p.Lys719fs)
|
rs397508941
|
|
NM_007294.4(BRCA1):c.2155_2221dup (p.Ser741Ter)
|
rs1555590136
|
|
NM_007294.4(BRCA1):c.2157_2160del (p.Lys719fs)
|
rs886040005
|
|
NM_007294.4(BRCA1):c.2157dup (p.Glu720fs)
|
rs80357715
|
|
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)
|
rs80356875
|
|
NM_007294.4(BRCA1):c.2161_2162insG (p.Phe721fs)
|
rs886040006
|
|
NM_007294.4(BRCA1):c.2176_2177del (p.Leu726fs)
|
rs397508945
|
|
NM_007294.4(BRCA1):c.2185_2189del (p.Glu729fs)
|
rs886040007
|
|
NM_007294.4(BRCA1):c.2188_2195delinsAAAAAGG (p.Glu730fs)
|
rs886040008
|
|
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)
|
rs273898681
|
|
NM_007294.4(BRCA1):c.2192_2196del (p.Lys731fs)
|
rs397508946
|
|
NM_007294.4(BRCA1):c.2193del (p.Glu732fs)
|
rs886040009
|
|
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter)
|
rs80357426
|
|
NM_007294.4(BRCA1):c.2194delinsAA (p.Glu732fs)
|
rs886040010
|
|
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter)
|
rs397508949
|
|
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)
|
rs80357507
|
|
NM_007294.4(BRCA1):c.2198dup (p.Lys734fs)
|
rs886040012
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2202dup (p.Leu735fs)
|
rs80357982
|
|
NM_007294.4(BRCA1):c.2205del (p.Glu736fs)
|
rs886040015
|
|
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter)
|
rs80357234
|
|
NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs)
|
rs80357654
|
|
NM_007294.4(BRCA1):c.2210del (p.Thr737fs)
|
rs80357793
|
|
NM_007294.4(BRCA1):c.2211dup (p.Val738fs)
|
rs886040016
|
|
NM_007294.4(BRCA1):c.2212_2215del (p.Val738fs)
|
rs397508951
|
|
NM_007294.4(BRCA1):c.2213_2214dup (p.Lys739fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2214_2218delinsAAA (p.Lys739fs)
|
rs886040017
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter)
|
rs56329598
|
|
NM_007294.4(BRCA1):c.2215_2216insCT (p.Lys739fs)
|
rs80357930
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2217dup (p.Val740fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2218del (p.Val740fs)
|
rs886040018
|
|
NM_007294.4(BRCA1):c.2222_2223del (p.Val740_Ser741insTer)
|
rs886040019
|
|
NM_007294.4(BRCA1):c.2223dup (p.Asn742Ter)
|
rs886040020
|
|
NM_007294.4(BRCA1):c.2241del (p.Asp749fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2242_2251del (p.Lys748fs)
|
rs886037997
|
|
NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs)
|
rs80357602
|
|
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)
|
rs41286296
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
NM_007294.4(BRCA1):c.2273del (p.Leu758fs)
|
rs80357681
|
|
NM_007294.4(BRCA1):c.2283_2284del (p.Arg762fs)
|
rs80357657
|
|
NM_007294.4(BRCA1):c.2292_2310dup (p.Leu771delinsArgGluTer)
|
rs397508955
|
|
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter)
|
rs80357449
|
|
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer)
|
rs80357780
|
|
NM_007294.4(BRCA1):c.2298dup (p.Ser767Ter)
|
rs786204264
|
|
NM_007294.4(BRCA1):c.2299del (p.Ser767fs)
|
rs80357786
|
|
NM_007294.4(BRCA1):c.22_50del (p.Val8fs)
|
rs886040013
|
|
NM_007294.4(BRCA1):c.2307_2313del (p.Ile769fs)
|
rs886040022
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2309C>G (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2311_2312insC (p.Leu771fs)
|
rs886040023
|
|
NM_007294.4(BRCA1):c.2314_2315del (p.Val772fs)
|
rs886040024
|
|
NM_007294.4(BRCA1):c.2322del (p.Thr775fs)
|
rs886040025
|
|
NM_007294.4(BRCA1):c.2329del (p.Tyr777fs)
|
rs80357725
|
|
NM_007294.4(BRCA1):c.232del (p.Arg78fs)
|
rs80357884
|
|
NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter)
|
rs80357444
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2340_2343del (p.Glu781fs)
|
rs886040026
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2350_2351del (p.Ser784fs)
|
rs397508960
|
|
NM_007294.4(BRCA1):c.2354T>A (p.Leu785Ter)
|
rs397508961
|
|
NM_007294.4(BRCA1):c.2355dup (p.Leu786fs)
|
rs80357990
|
|
NM_007294.4(BRCA1):c.2357del (p.Leu786fs)
|
rs397508963
|
|
NM_007294.4(BRCA1):c.2359dup (p.Glu787fs)
|
rs80357739
|
|
NM_007294.4(BRCA1):c.2361del (p.Val788fs)
|
rs886040028
|
|
NM_007294.4(BRCA1):c.2368_2369del (p.Thr790fs)
|
rs886040029
|
|
NM_007294.4(BRCA1):c.237del (p.Phe79fs)
|
rs886040030
|
|
NM_007294.4(BRCA1):c.2386_2387delinsT (p.Lys795_Thr796insTer)
|
rs876660305
|
|
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)
|
rs62625306
|
|
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs)
|
rs80357695
|
|
NM_007294.4(BRCA1):c.2396del (p.Asn799fs)
|
rs886040033
|
|
NM_007294.4(BRCA1):c.2398_2411del (p.Lys800fs)
|
rs886040034
|
|
NM_007294.4(BRCA1):c.239_241delinsTT (p.Ser80fs)
|
rs886040032
|
|
NM_007294.4(BRCA1):c.2403T>A (p.Cys801Ter)
|
rs80357381
|
|
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
|
rs80357706
|
|
NM_007294.4(BRCA1):c.2406_2409del (p.Gln804fs)
|
rs80357674
|
|
NM_007294.4(BRCA1):c.2410C>T (p.Gln804Ter)
|
rs80356982
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.2411del (p.Gln804fs)
|
rs886040035
|
|
NM_007294.4(BRCA1):c.2418del (p.Ala807fs)
|
rs879255281
|
|
NM_007294.4(BRCA1):c.2418dup (p.Ala807fs)
|
rs886040036
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2424del (p.Phe808fs)
|
rs397507200
|
|
NM_007294.4(BRCA1):c.2429del (p.Asn810fs)
|
rs397508967
|
|
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)
|
rs397508967
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2434A>T (p.Lys812Ter)
|
rs397508968
|
|
NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter)
|
rs80357186
|
|
NM_007294.4(BRCA1):c.2442_2443insT (p.Ile815fs)
|
rs886040038
|
|
NM_007294.4(BRCA1):c.2445_2448del (p.Ile815fs)
|
rs886038000
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.246del (p.Val83fs)
|
rs886040039
|
|
NM_007294.4(BRCA1):c.2473del (p.Asp825fs)
|
rs886040040
|
|
NM_007294.4(BRCA1):c.2474dup (p.Asp825fs)
|
rs80357830
|
|
NM_007294.4(BRCA1):c.2476del (p.Thr826fs)
|
rs80357631
|
|
NM_007294.4(BRCA1):c.2477_2478del (p.Thr826fs)
|
rs80357800
|
|
NM_007294.4(BRCA1):c.2477_2492delinsTG (p.Thr826fs)
|
rs886040041
|
|
NM_007294.4(BRCA1):c.2481del (p.Gly828fs)
|
rs886040042
|
|
NM_007294.4(BRCA1):c.2487_2488insCCCCT (p.Lys830fs)
|
rs397508972
|
|
NM_007294.4(BRCA1):c.2487del (p.Phe829fs)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2487dup (p.Lys830Ter)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2488_2497dup (p.Leu833Ter)
|
rs397508973
|
|
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs)
|
rs886040043
|
|
NM_007294.4(BRCA1):c.2490_2497dup (p.Leu833fs)
|
rs1555589539
|
|
NM_007294.4(BRCA1):c.2501del (p.Gly834fs)
|
rs886040044
|
|
NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs)
|
rs273899686
|
|
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter)
|
rs398122661
|
|
NM_007294.4(BRCA1):c.2515del (p.His839fs)
|
rs80357607
|
|
NM_007294.4(BRCA1):c.2517_2518del (p.His839fs)
|
rs397508974
|
|
NM_007294.4(BRCA1):c.2518del (p.Ser840fs)
|
rs397508975
|
|
NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter)
|
rs876658552
|
|
NM_007294.4(BRCA1):c.2524dup (p.Glu842fs)
|
rs886040045
|
|
NM_007294.4(BRCA1):c.2529_2530del (p.Ser844fs)
|
rs886040046
|
|
NM_007294.4(BRCA1):c.2532_2536del (p.Ser844fs)
|
rs886040047
|
|
NM_007294.4(BRCA1):c.2536G>T (p.Glu846Ter)
|
rs786203523
|
|
NM_007294.4(BRCA1):c.2538_2540delinsG (p.Met847fs)
|
rs886040048
|
|
NM_007294.4(BRCA1):c.2542_2545del (p.Glu848fs)
|
rs886040049
|
|
NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter)
|
rs80356951
|
|
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter)
|
rs398122662
|
|
NM_007294.4(BRCA1):c.2552_2553del (p.Glu851fs)
|
rs886040050
|
|
NM_007294.4(BRCA1):c.2552_2553dup (p.Leu852fs)
|
rs886040051
|
|
NM_007294.4(BRCA1):c.2558dup (p.Asp853fs)
|
rs80357835
|
|
NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs)
|
rs80357968
|
|
NM_007294.4(BRCA1):c.2561_2565del (p.Ala854fs)
|
rs397508981
|
|
NM_007294.4(BRCA1):c.2562_2563insGC (p.Gln855fs)
|
rs878853290
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter)
|
rs80356832
|
|
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter)
|
rs397508983
|
|
NM_007294.4(BRCA1):c.2577_2578insTT (p.Thr860fs)
|
rs886040052
|
|
NM_007294.4(BRCA1):c.2586_2593del (p.Val863fs)
|
rs80357675
|
|
NM_007294.4(BRCA1):c.2587del (p.Val863fs)
|
rs886040053
|
|
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)
|
rs886038001
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.260T>A (p.Leu87Ter)
|
rs886040054
|
|
NM_007294.4(BRCA1):c.2611_2612del (p.Pro871fs)
|
rs80357962
|
|
NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs)
|
rs80357948
|
|
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs)
|
rs397508986
|
|
NM_007294.4(BRCA1):c.2617del (p.Ser873fs)
|
rs80357912
|
|
NM_007294.4(BRCA1):c.2617dup (p.Ser873fs)
|
rs80357912
|
|
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)
|
rs80357251
|
|
NM_007294.4(BRCA1):c.2637del (p.Glu880fs)
|
rs886040056
|
|
NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter)
|
rs397508988
|
|
NM_007294.4(BRCA1):c.2643del (p.Glu881fs)
|
rs397508989
|
|
NM_007294.4(BRCA1):c.2646_2648del (p.Cys882_Ala883delinsTer)
|
rs80357513
|
|
NM_007294.4(BRCA1):c.2648_2649insGGCA (p.Thr884fs)
|
rs886040057
|
|
NM_007294.4(BRCA1):c.2649_2650del (p.Thr884fs)
|
rs886040058
|
|
NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs)
|
rs886038003
|
|
NM_007294.4(BRCA1):c.2652dup (p.Phe885fs)
|
rs886040059
|
|
NM_007294.4(BRCA1):c.2657_2658del (p.Ser886fs)
|
rs397508990
|
|
NM_007294.4(BRCA1):c.2659dup (p.Ala887fs)
|
rs1555589203
|
|
NM_007294.4(BRCA1):c.2670del (p.Ser891fs)
|
rs80357659
|
|
NM_007294.4(BRCA1):c.2675T>G (p.Leu892Ter)
|
rs397508994
|
|
NM_007294.4(BRCA1):c.2678dup (p.Lys894fs)
|
rs886040060
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2683C>T (p.Gln895Ter)
|
rs397508997
|
|
NM_007294.4(BRCA1):c.2683_2686del (p.Gln895fs)
|
rs397508998
|
|
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2686dup (p.Ser896fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2687_2693del (p.Ser896fs)
|
rs886040062
|
|
NM_007294.4(BRCA1):c.2694del (p.Val899fs)
|
rs80357549
|
|
NM_007294.4(BRCA1):c.2694dup (p.Val899fs)
|
rs80357549
|
|
NM_007294.4(BRCA1):c.269_281del (p.Ile90fs)
|
rs80359879
|
|
NM_007294.4(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer)
|
rs80357899
|
|
NM_007294.4(BRCA1):c.2704del (p.Glu902fs)
|
rs886040064
|
|
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer)
|
rs886040065
|
|
NM_007294.4(BRCA1):c.2709del (p.Cys903fs)
|
rs80357594
|
|
NM_007294.4(BRCA1):c.2710G>T (p.Glu904Ter)
|
rs80357035
|
|
NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter)
|
rs397509002
|
|
NM_007294.4(BRCA1):c.2719G>T (p.Glu907Ter)
|
rs876658593
|
|
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs)
|
rs80357731
|
|
NM_007294.4(BRCA1):c.2719del (p.Glu907fs)
|
rs879255481
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2726_2730del (p.Asn909fs)
|
rs80357712
|
|
NM_007294.4(BRCA1):c.2726dup (p.Asn909fs)
|
rs80357614
|
|
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs)
|
rs80357605
|
|
NM_007294.4(BRCA1):c.2728del (p.Gln910fs)
|
rs397509005
|
|
NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter)
|
rs80357419
|
|
NM_007294.4(BRCA1):c.2749dup (p.Ile917fs)
|
rs80357942
|
|
NM_007294.4(BRCA1):c.2750del (p.Ile917fs)
|
rs886040067
|
|
NM_007294.4(BRCA1):c.2751del (p.Lys918fs)
|
rs886040068
|
|
NM_007294.4(BRCA1):c.2753_2755delinsCA (p.Lys918fs)
|
rs886040069
|
|
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)
|
rs80357377
|
|
NM_007294.4(BRCA1):c.2762del (p.Gln921fs)
|
rs80357703
|
|
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs)
|
rs80357822
|
|
NM_007294.4(BRCA1):c.2766del (p.Val923fs)
|
rs80357812
|
|
NM_007294.4(BRCA1):c.2776_2777del (p.Thr926fs)
|
rs886040070
|
|
NM_007294.4(BRCA1):c.2776_2777insTA (p.Thr926fs)
|
rs886040071
|
|
NM_007294.4(BRCA1):c.2778dup (p.Ala927fs)
|
rs886040072
|
|
NM_007294.4(BRCA1):c.2787_2788insTTATCACTGCAGGCTTT (p.Pro930fs)
|
rs886040073
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.2805dup (p.Asp936fs)
|
rs397509012
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.2808_2811del (p.Lys937fs)
|
rs397509013
|
|
NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter)
|
rs886037972
|
|
NM_007294.4(BRCA1):c.2814del (p.Val939fs)
|
rs886040074
|
|
NM_007294.4(BRCA1):c.2823del (p.Asn941fs)
|
rs886040075
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs)
|
rs80357519
|
|
NM_007294.4(BRCA1):c.2836_2837del (p.Ile946fs)
|
rs397509016
|
|
NM_007294.4(BRCA1):c.2840_2841del (p.Lys947fs)
|
rs80357984
|
|
NM_007294.4(BRCA1):c.2843del (p.Gly948fs)
|
rs886040076
|
|
NM_007294.4(BRCA1):c.2850_2851insC (p.Arg951fs)
|
rs886040077
|
|
NM_007294.4(BRCA1):c.2850dup (p.Arg951Ter)
|
rs1555588846
|
|
NM_007294.4(BRCA1):c.2856_2857del (p.Phe952fs)
|
rs397509019
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)
|
rs80357295
|
|
NM_007294.4(BRCA1):c.2864C>G (p.Ser955Ter)
|
rs80357295
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007294.4(BRCA1):c.2868del (p.Gln957fs)
|
rs80357929
|
|
NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter)
|
rs80356973
|
|
NM_007294.4(BRCA1):c.2875del (p.Arg959fs)
|
rs886040080
|
|
NM_007294.4(BRCA1):c.2878_2879del (p.Gly960fs)
|
rs886040081
|
|
NM_007294.4(BRCA1):c.2882del (p.Asn961fs)
|
rs886040082
|
|
NM_007294.4(BRCA1):c.2887del (p.Thr963fs)
|
rs80357559
|
|
NM_007294.4(BRCA1):c.2890G>T (p.Gly964Ter)
|
rs879254027
|
|
NM_007294.4(BRCA1):c.2898del (p.Thr967fs)
|
rs886038005
|
|
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs)
|
rs398122670
|
|
NM_007294.4(BRCA1):c.2903_2904insTC (p.Asn969fs)
|
rs886040083
|
|
NM_007294.4(BRCA1):c.2906_2908delinsCT (p.Asn969fs)
|
rs886040084
|
|
NM_007294.4(BRCA1):c.2906del (p.Asn969fs)
|
rs886040085
|
|
NM_007294.4(BRCA1):c.290_291del (p.Thr97fs)
|
rs80357738
|
|
NM_007294.4(BRCA1):c.2914G>T (p.Gly972Ter)
|
rs397509023
|
|
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter)
|
rs80356872
|
|
NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter)
|
rs80357497
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2940del (p.Pro981fs)
|
rs80357876
|
|
NM_007294.4(BRCA1):c.2951_2952del (p.Phe984fs)
|
rs80357627
|
|
NM_007294.4(BRCA1):c.2952del (p.Ile986fs)
|
rs80357627
|
|
NM_007294.4(BRCA1):c.2952dup (p.Pro985fs)
|
rs80357627
|
|
NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter)
|
rs878854941
|
|
NM_007294.4(BRCA1):c.2960dup (p.Ser988fs)
|
rs886040088
|
|
NM_007294.4(BRCA1):c.2963C>A (p.Ser988Ter)
|
rs397507206
|
|
NM_007294.4(BRCA1):c.2970del (p.Thr992fs)
|
rs886040089
|
|
NM_007294.4(BRCA1):c.2971A>T (p.Lys991Ter)
|
rs886040090
|
|
NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs)
|
rs397509030
|
|
NM_007294.4(BRCA1):c.2980del (p.Cys994fs)
|
rs80357502
|
|
NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer)
|
rs397507207
|
|
NM_007294.4(BRCA1):c.2981del (p.Cys994fs)
|
rs886040091
|
|
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)
|
rs80357829
|
|
NM_007294.4(BRCA1):c.2990del (p.Asn997fs)
|
rs80357829
|
|
NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter)
|
rs273899692
|
|
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)
|
rs80357991
|
|
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)
|
rs80357111
|
|
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter)
|
rs886038007
|
|
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)
|
rs80357601
|
|
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)
|
rs80357617
|
|
NM_007294.4(BRCA1):c.301+1G>A
|
rs587782173
|
|
NM_007294.4(BRCA1):c.301+1G>C
|
rs587782173
|
|
NM_007294.4(BRCA1):c.3010G>T (p.Glu1004Ter)
|
rs786202534
|
|
NM_007294.4(BRCA1):c.3013del (p.Glu1005fs)
|
rs80357937
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.302-1G>A
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1G>T
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-2A>C
|
rs80358011
|
|
NM_007294.4(BRCA1):c.302-2A>G
|
rs80358011
|
|
NM_007294.4(BRCA1):c.302-3C>G
|
rs80358051
|
|
NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter)
|
rs80357168
|
|
NM_007294.4(BRCA1):c.3020_3023del (p.Ser1007fs)
|
rs886040093
|
|
NM_007294.4(BRCA1):c.3024dup (p.Ser1009fs)
|
rs886040094
|
|
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)
|
rs80357510
|
|
NM_007294.4(BRCA1):c.3037_3038del (p.Glu1013fs)
|
rs397507208
|
|
NM_007294.4(BRCA1):c.303T>A (p.Tyr101Ter)
|
rs80356936
|
|
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter)
|
rs80356936
|
|
NM_007294.4(BRCA1):c.3044dup (p.Asn1016fs)
|
rs80357746
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)
|
rs80357004
|
|
NM_007294.4(BRCA1):c.3053_3054insTGAGA (p.Ile1019fs)
|
rs80357547
|
|
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer)
|
rs786202906
|
|
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)
|
rs80357647
|
|
NM_007294.4(BRCA1):c.3087_3100dup (p.Asn1034fs)
|
rs80357967
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter)
|
rs80357841
|
|
NM_007294.4(BRCA1):c.3109_3110insT (p.Lys1037fs)
|
rs886040096
|
|
NM_007294.4(BRCA1):c.310del (p.Ser104fs)
|
rs886040097
|
|
NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter)
|
rs80357161
|
|
NM_007294.4(BRCA1):c.3114_3117delinsGA (p.Ala1039fs)
|
rs273899700
|
|
NM_007294.4(BRCA1):c.3115del (p.Ala1039fs)
|
rs886040098
|
|
NM_007294.4(BRCA1):c.3117_3120del (p.Ser1040fs)
|
rs886040099
|
|
NM_007294.4(BRCA1):c.3122C>G (p.Ser1041Ter)
|
rs397509035
|
|
NM_007294.4(BRCA1):c.3129_3138del (p.Asn1043fs)
|
rs730881462
|
|
NM_007294.4(BRCA1):c.3143del (p.Gly1048fs)
|
rs886040100
|
|
NM_007294.4(BRCA1):c.3145del (p.Ser1049fs)
|
rs397509038
|
|
NM_007294.4(BRCA1):c.3150_3208dup (p.Ala1070delinsValLeuMetLysTrpAlaProValLeuMetLysTer)
|
rs1555588199
|
|
NM_007294.4(BRCA1):c.3155del (p.Asn1052fs)
|
rs397509040
|
|
NM_007294.4(BRCA1):c.3168del (p.Ser1057fs)
|
rs397509044
|
|
NM_007294.4(BRCA1):c.3174del (p.Asn1059fs)
|
rs397507210
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
NM_007294.4(BRCA1):c.3182del (p.Ile1061fs)
|
rs886040101
|
|
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)
|
rs80357511
|
|
NM_007294.4(BRCA1):c.3194_3195insG (p.Asp1065fs)
|
rs80357883
|
|
NM_007294.4(BRCA1):c.3203_3206del (p.Ile1068fs)
|
rs886040102
|
|
NM_007294.4(BRCA1):c.3205del (p.Gln1069fs)
|
rs886040103
|
|
NM_007294.4(BRCA1):c.3210dup (p.Glu1071fs)
|
rs886040104
|
|
NM_007294.4(BRCA1):c.3211_3212dup (p.Leu1072fs)
|
rs886040105
|
|
NM_007294.4(BRCA1):c.3214del (p.Glu1071_Leu1072insTer)
|
rs80357923
|
|
NM_007294.4(BRCA1):c.3217_3218del (p.Leu1072_Gly1073insTer)
|
rs886040106
|
|
NM_007294.4(BRCA1):c.321del (p.Phe107fs)
|
rs80357544
|
|
NM_007294.4(BRCA1):c.3226del (p.Arg1076fs)
|
rs273899703
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3239T>A (p.Leu1080Ter)
|
rs80357145
|
|
NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer)
|
rs1555588016
|
|
NM_007294.4(BRCA1):c.3253dup (p.Arg1085fs)
|
rs80357517
|
|
NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs)
|
rs80357624
|
|
NM_007294.4(BRCA1):c.3256_3257insGA (p.Leu1086Ter)
|
rs80357764
|
|
NM_007294.4(BRCA1):c.3257T>A (p.Leu1086Ter)
|
rs80357006
|
|
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)
|
rs80357006
|
|
NM_007294.4(BRCA1):c.3258del (p.Val1088fs)
|
rs886040107
|
|
NM_007294.4(BRCA1):c.3262_3277del (p.Val1088fs)
|
rs886040108
|
|
NM_007294.4(BRCA1):c.3262del (p.Val1088fs)
|
rs397509049
|
|
NM_007294.4(BRCA1):c.3266T>A (p.Leu1089Ter)
|
rs886040110
|
|
NM_007294.4(BRCA1):c.3266del (p.Leu1089fs)
|
rs886040109
|
|
NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter)
|
rs80357402
|
|
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs)
|
rs397509050
|
|
NM_007294.4(BRCA1):c.3282T>G (p.Tyr1094Ter)
|
rs886040111
|
|
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)
|
rs397509051
|
|
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
|
rs80357485
|
|
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.3296del (p.Pro1099fs)
|
rs80357815
|
|
NM_007294.4(BRCA1):c.329del (p.Lys110fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.3308_3309insC (p.Cys1103_Lys1104insTer)
|
rs886040113
|
|
NM_007294.4(BRCA1):c.3309T>A (p.Cys1103Ter)
|
rs80357317
|
|
NM_007294.4(BRCA1):c.330_331insA (p.Glu111fs)
|
rs886040112
|
|
NM_007294.4(BRCA1):c.3314del (p.His1105fs)
|
rs397509054
|
|
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter)
|
rs80357106
|
|
NM_007294.4(BRCA1):c.331del (p.Glu111fs)
|
rs886040114
|
|
NM_007294.4(BRCA1):c.3326_3329del (p.Lys1109fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3329_3330del (p.Lys1110fs)
|
rs80357525
|
|
NM_007294.4(BRCA1):c.3329del (p.Lys1110fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3329dup (p.Gln1111fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3330del (p.Lys1110fs)
|
rs886038011
|
|
NM_007294.4(BRCA1):c.3331C>T (p.Gln1111Ter)
|
rs80357089
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3331_3335del (p.Gln1111fs)
|
rs886040115
|
|
NM_007294.4(BRCA1):c.3331del (p.Gln1111fs)
|
rs886040116
|
|
NM_007294.4(BRCA1):c.3333_3336del (p.Gln1111fs)
|
rs397509057
|
|
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs)
|
rs80357966
|
|
NM_007294.4(BRCA1):c.3339T>G (p.Tyr1113Ter)
|
rs80357421
|
|
NM_007294.4(BRCA1):c.3339_3341del (p.Tyr1113_Glu1114delinsTer)
|
rs886040117
|
|
NM_007294.4(BRCA1):c.3340G>T (p.Glu1114Ter)
|
rs80357278
|
|
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer)
|
rs397509058
|
|
NM_007294.4(BRCA1):c.3343del (p.Glu1115fs)
|
rs273899705
|
|
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs)
|
rs80357785
|
|
NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter)
|
rs397507215
|
|
NM_007294.4(BRCA1):c.3354_3355del (p.Gln1118fs)
|
rs397509059
|
|
NM_007294.4(BRCA1):c.3357del (p.Val1120fs)
|
rs80357827
|
|
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)
|
rs80357945
|
|
NM_007294.4(BRCA1):c.3359_3360del (p.Val1120fs)
|
rs80357843
|
|
NM_007294.4(BRCA1):c.335del (p.Asn112fs)
|
rs886040119
|
|
NM_007294.4(BRCA1):c.3360dup (p.Asn1121Ter)
|
rs886040120
|
|
NM_007294.4(BRCA1):c.3362del (p.Asn1121fs)
|
rs80357865
|
|
NM_007294.4(BRCA1):c.3365_3366del (p.Thr1122fs)
|
rs80357892
|
|
NM_007294.4(BRCA1):c.3373dup (p.Ser1125fs)
|
rs886040121
|
|
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs)
|
rs80357828
|
|
NM_007294.4(BRCA1):c.3377del (p.Pro1126fs)
|
rs397509061
|
|
NM_007294.4(BRCA1):c.3381T>G (p.Tyr1127Ter)
|
rs781319410
|
|
NM_007294.4(BRCA1):c.3384_3391del (p.Leu1128_Ile1129insTer)
|
rs886040122
|
|
NM_007294.4(BRCA1):c.3388del (p.Ser1130fs)
|
rs886040123
|
|
NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter)
|
rs80357405
|
|
NM_007294.4(BRCA1):c.3390del (p.Asp1131fs)
|
rs80357900
|
|
NM_007294.4(BRCA1):c.3395del (p.Asn1132fs)
|
rs886040124
|
|
NM_007294.4(BRCA1):c.3396del (p.Asn1132_Leu1133insTer)
|
rs886040125
|
|
NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs)
|
rs80357577
|
|
NM_007294.4(BRCA1):c.3398T>G (p.Leu1133Ter)
|
rs80356971
|
|
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter)
|
rs80357018
|
|
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)
|
rs80357136
|
|
NM_007294.4(BRCA1):c.3413dup (p.Ser1139fs)
|
rs397509063
|
|
NM_007294.4(BRCA1):c.3416_3427delinsC (p.Ser1139fs)
|
rs886040128
|
|
NM_007294.4(BRCA1):c.3417del (p.Ser1139fs)
|
rs273899706
|
|
NM_007294.4(BRCA1):c.3428delinsTA (p.Ser1143fs)
|
rs397509066
|
|
NM_007294.4(BRCA1):c.342del (p.Pro115fs)
|
rs886040129
|
|
NM_007294.4(BRCA1):c.3430C>T (p.Gln1144Ter)
|
rs80357369
|
|
NM_007294.4(BRCA1):c.3442del (p.Glu1148fs)
|
rs80357808
|
|
NM_007294.4(BRCA1):c.3461T>G (p.Leu1154Ter)
|
rs886040130
|
|
NM_007294.4(BRCA1):c.3462dup (p.Asp1155fs)
|
rs80357857
|
|
NM_007294.4(BRCA1):c.3477_3479delinsC (p.Lys1160fs)
|
rs273899707
|
|
NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs)
|
rs80357781
|
|
NM_007294.4(BRCA1):c.3478_3479del (p.Lys1160fs)
|
rs273899707
|
|
NM_007294.4(BRCA1):c.3479_3483del (p.Lys1160fs)
|
rs886040132
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3482_3492del (p.Glu1161fs)
|
rs886040133
|
|
NM_007294.4(BRCA1):c.3485_3488del (p.Asp1162fs)
|
rs886040134
|
|
NM_007294.4(BRCA1):c.3485_3491del (p.Asp1162fs)
|
rs886040135
|
|
NM_007294.4(BRCA1):c.3489_3499del (p.Ser1164fs)
|
rs886040136
|
|
NM_007294.4(BRCA1):c.3494_3495del (p.Phe1165fs)
|
rs397509076
|
|
NM_007294.4(BRCA1):c.3498del (p.Glu1167fs)
|
rs886040137
|
|
NM_007294.4(BRCA1):c.3504_3505insA (p.Asp1169fs)
|
rs886040138
|
|
NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter)
|
rs730882164
|
|
NM_007294.4(BRCA1):c.3514G>T (p.Glu1172Ter)
|
rs397509079
|
|
NM_007294.4(BRCA1):c.3531del (p.Phe1177fs)
|
rs80357621
|
|
NM_007294.4(BRCA1):c.3534del (p.Ser1178fs)
|
rs886040140
|
|
NM_007294.4(BRCA1):c.3541del (p.Val1181fs)
|
rs886038016
|
|
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)
|
rs80357296
|
|
NM_007294.4(BRCA1):c.3549_3550delinsT (p.Lys1183fs)
|
rs273899709
|
|
NM_007294.4(BRCA1):c.3553G>T (p.Glu1185Ter)
|
rs397509081
|
|
NM_007294.4(BRCA1):c.355A>T (p.Lys119Ter)
|
rs886040142
|
|
NM_007294.4(BRCA1):c.3564dup (p.Ser1189fs)
|
rs886040143
|
|
NM_007294.4(BRCA1):c.3571del (p.Ser1191fs)
|
rs886040145
|
|
NM_007294.4(BRCA1):c.3578dup (p.Thr1194fs)
|
rs397509083
|
|
NM_007294.4(BRCA1):c.357_358delinsT (p.Lys119fs)
|
rs886040144
|
|
NM_007294.4(BRCA1):c.3580del (p.Thr1194fs)
|
rs80357663
|
|
NM_007294.4(BRCA1):c.3582_3589del (p.His1195fs)
|
rs886040146
|
|
NM_007294.4(BRCA1):c.3583_3590del (p.His1195fs)
|
rs886040147
|
|
NM_007294.4(BRCA1):c.3583del (p.His1195fs)
|
rs273900710
|
|
NM_007294.4(BRCA1):c.3586dup (p.Thr1196fs)
|
rs80357531
|
|
NM_007294.4(BRCA1):c.3587dup (p.His1197fs)
|
rs886040148
|
|
NM_007294.4(BRCA1):c.3593T>A (p.Leu1198Ter)
|
rs397509085
|
|
NM_007294.4(BRCA1):c.3596_3602del (p.Ala1199fs)
|
rs397509086
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3604del (p.Tyr1202fs)
|
rs886040150
|
|
NM_007294.4(BRCA1):c.3605dup (p.Tyr1202Ter)
|
rs886040151
|
|
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs)
|
rs80357980
|
|
NM_007294.4(BRCA1):c.361dup (p.Glu121fs)
|
rs886040152
|
|
NM_007294.4(BRCA1):c.3624del (p.Lys1208fs)
|
rs80357512
|
|
NM_007294.4(BRCA1):c.3624dup (p.Leu1209fs)
|
rs80357512
|
|
NM_007294.4(BRCA1):c.3625_3626insA (p.Leu1209fs)
|
rs886040153
|
|
NM_007294.4(BRCA1):c.3626T>G (p.Leu1209Ter)
|
rs786203884
|
|
NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer)
|
rs80357571
|
|
NM_007294.4(BRCA1):c.3628del (p.Glu1210fs)
|
rs397509090
|
|
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs)
|
rs886040154
|
|
NM_007294.4(BRCA1):c.363_364del (p.Glu121fs)
|
rs886040155
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs)
|
rs80357805
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3649_3650insA (p.Ser1217fs)
|
rs80357831
|
|
NM_007294.4(BRCA1):c.3651dup (p.Ser1218Ter)
|
rs886040157
|
|
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)
|
rs80357310
|
|
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter)
|
rs80357356
|
|
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs)
|
rs80357797
|
|
NM_007294.4(BRCA1):c.3669del (p.Cys1225fs)
|
rs886040158
|
|
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs)
|
rs398122677
|
|
NM_007294.4(BRCA1):c.3679C>T (p.Gln1227Ter)
|
rs886040159
|
|
NM_007294.4(BRCA1):c.3683del (p.His1228fs)
|
rs397507217
|
|
NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter)
|
rs80357162
|
|
NM_007294.4(BRCA1):c.3693dup (p.Gly1232fs)
|
rs397509092
|
|
NM_007294.4(BRCA1):c.3695del (p.Gly1232fs)
|
rs886038022
|
|
NM_007294.4(BRCA1):c.36_39del (p.Asn13fs)
|
rs886040149
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3704_3707del (p.Asn1235fs)
|
rs397509094
|
|
NM_007294.4(BRCA1):c.3704del (p.Asn1235fs)
|
rs397509095
|
|
NM_007294.4(BRCA1):c.3706_3707del (p.Asn1236fs)
|
rs80357666
|
|
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
|
rs80357564
|
|
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)
|
rs80356903
|
|
NM_007294.4(BRCA1):c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG (p.His1244delinsAspThrCysTyrLeuValLysTer)
|
rs886040895
|
|
NM_007294.4(BRCA1):c.372del (p.Ile125fs)
|
rs886040160
|
|
NM_007294.4(BRCA1):c.3731_3738del (p.His1244fs)
|
rs886040161
|
|
NM_007294.4(BRCA1):c.3731_3743del (p.His1244fs)
|
rs886040162
|
|
NM_007294.4(BRCA1):c.3736del (p.Thr1246fs)
|
rs80357578
|
|
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)
|
rs28897686
|
|
NM_007294.4(BRCA1):c.3750del (p.Glu1250fs)
|
rs886040163
|
|
NM_007294.4(BRCA1):c.3753T>A (p.Cys1251Ter)
|
rs397509098
|
|
NM_007294.4(BRCA1):c.3756_3757del (p.Leu1252_Ser1253insTer)
|
rs397509099
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3756_3760del (p.Ser1253fs)
|
rs886040164
|
|
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)
|
rs80357520
|
|
NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter)
|
rs80357687
|
|
NM_007294.4(BRCA1):c.375_376insT (p.Gln126fs)
|
rs397509101
|
|
NM_007294.4(BRCA1):c.3760_3761insT (p.Lys1254fs)
|
rs80357986
|
|
NM_007294.4(BRCA1):c.3761_3762insTT (p.Lys1254fs)
|
rs80357928
|
|
NM_007294.4(BRCA1):c.3762_3763del (p.Asn1255fs)
|
rs80357645
|
|
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)
|
rs80357848
|
|
NM_007294.4(BRCA1):c.3765del (p.Asn1255fs)
|
rs886040165
|
|
NM_007294.4(BRCA1):c.3767_3768del (p.Thr1256fs)
|
rs730881440
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3774_3775del (p.Asn1259fs)
|
rs397509106
|
|
NM_007294.4(BRCA1):c.3779del (p.Leu1260fs)
|
rs80357798
|
|
NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)
|
rs80357545
|
|
NM_007294.4(BRCA1):c.3785C>A (p.Ser1262Ter)
|
rs80357269
|
|
NM_007294.4(BRCA1):c.3794del (p.Asn1265fs)
|
rs80357767
|
|
NM_007294.4(BRCA1):c.3810C>A (p.Cys1270Ter)
|
rs886040166
|
|
NM_007294.4(BRCA1):c.3814_3815insT (p.Asn1272fs)
|
rs397509109
|
|
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)
|
rs80357208
|
|
NM_007294.4(BRCA1):c.3820del (p.Gln1273_Val1274insTer)
|
rs80357616
|
|
NM_007294.4(BRCA1):c.3820dup (p.Val1274fs)
|
rs80357616
|
|
NM_007294.4(BRCA1):c.3821dup (p.Ile1275fs)
|
rs886040167
|
|
NM_007294.4(BRCA1):c.3837_3840del (p.Ser1280fs)
|
rs886040168
|
|
NM_007294.4(BRCA1):c.3839_3843del (p.Ala1279_Ser1280insTer)
|
rs886040169
|
|
NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer)
|
rs273900717
|
|
NM_007294.4(BRCA1):c.3840_3850del (p.Gln1281fs)
|
rs886040170
|
|
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)
|
rs80356866
|
|
NM_007294.4(BRCA1):c.3844del (p.Glu1282fs)
|
rs397509113
|
|
NM_007294.4(BRCA1):c.3851_3852dup (p.Leu1285fs)
|
rs397507221
|
|
NM_007294.4(BRCA1):c.3856del (p.Ser1286fs)
|
rs80357855
|
|
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)
|
rs80357842
|
|
NM_007294.4(BRCA1):c.385_386delinsC (p.Gly129fs)
|
rs886040171
|
|
NM_007294.4(BRCA1):c.3862G>T (p.Glu1288Ter)
|
rs876659708
|
|
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)
|
rs80357254
|
|
NM_007294.4(BRCA1):c.3869_3870del (p.Lys1290fs)
|
rs80357918
|
|
NM_007294.4(BRCA1):c.3874del (p.Ser1292fs)
|
rs587780802
|
|
NM_007294.4(BRCA1):c.3885del (p.Leu1295fs)
|
rs886040172
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)
|
rs80357038
|
|
NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer)
|
rs80357646
|
|
NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)
|
rs80357461
|
|
NM_007294.4(BRCA1):c.3907_3908delinsGGA (p.Leu1303fs)
|
rs80357634
|
|
NM_007294.4(BRCA1):c.3908_3909dup (p.Glu1304fs)
|
rs886040174
|
|
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)
|
rs80356888
|
|
NM_007294.4(BRCA1):c.390C>G (p.Tyr130Ter)
|
rs80356888
|
|
NM_007294.4(BRCA1):c.3910del (p.Glu1304fs)
|
rs397509117
|
|
NM_007294.4(BRCA1):c.3914del (p.Asp1305fs)
|
rs397509118
|
|
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)
|
rs80357678
|
|
NM_007294.4(BRCA1):c.3917del (p.Asp1305_Leu1306insTer)
|
rs886040175
|
|
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)
|
rs80357207
|
|
NM_007294.4(BRCA1):c.3926del (p.Asn1309fs)
|
rs397509119
|
|
NM_007294.4(BRCA1):c.3928dup (p.Thr1310fs)
|
rs886040176
|
|
NM_007294.4(BRCA1):c.3931_3934del (p.Asn1311fs)
|
rs80357864
|
|
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)
|
rs80357318
|
|
NM_007294.4(BRCA1):c.3947_3950del (p.Pro1315_Phe1316insTer)
|
rs886040177
|
|
NM_007294.4(BRCA1):c.3952_3955del (p.Ile1318fs)
|
rs886040178
|
|
NM_007294.4(BRCA1):c.3959del (p.Ser1320fs)
|
rs886040179
|
|
NM_007294.4(BRCA1):c.3961del (p.Ser1321fs)
|
rs886040180
|
|
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)
|
rs80357262
|
|
NM_007294.4(BRCA1):c.3967del (p.Gln1323fs)
|
rs397509122
|
|
NM_007294.4(BRCA1):c.3968_3971del (p.Gln1323fs)
|
rs886040181
|
|
NM_007294.4(BRCA1):c.3972_3974delinsAA (p.Met1324fs)
|
rs886040182
|
|
NM_007294.4(BRCA1):c.3973del (p.Arg1325fs)
|
rs80357904
|
|
NM_007294.4(BRCA1):c.3981del (p.Gln1327fs)
|
rs397509123
|
|
NM_007294.4(BRCA1):c.3985_3987delinsTTTC (p.Glu1329fs)
|
rs886040183
|
|
NM_007294.4(BRCA1):c.3990_3993del (p.Ser1330fs)
|
rs886040184
|
|
NM_007294.4(BRCA1):c.3991C>T (p.Gln1331Ter)
|
rs397507224
|
|
NM_007294.4(BRCA1):c.3995_4001del (p.Gly1332fs)
|
rs886040185
|
|
NM_007294.4(BRCA1):c.3G>C (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.4001del (p.Gly1334fs)
|
rs397509127
|
|
NM_007294.4(BRCA1):c.4002_4005del (p.Leu1335fs)
|
rs397509128
|
|
NM_007294.4(BRCA1):c.4013del (p.Lys1338fs)
|
rs886038029
|
|
NM_007294.4(BRCA1):c.4016_4017insTT (p.Glu1339fs)
|
rs886040187
|
|
NM_007294.4(BRCA1):c.4033G>T (p.Glu1345Ter)
|
rs886040188
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4038_4041del (p.Arg1347fs)
|
rs431825404
|
|
NM_007294.4(BRCA1):c.4039dup (p.Arg1347fs)
|
rs273900721
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4042G>T (p.Gly1348Ter)
|
rs886040191
|
|
NM_007294.4(BRCA1):c.4043del (p.Gly1348fs)
|
rs397509130
|
|
NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs)
|
rs483353092
|
|
NM_007294.4(BRCA1):c.4052T>A (p.Leu1351Ter)
|
rs397509132
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer)
|
rs397509133
|
|
NM_007294.4(BRCA1):c.4062_4066del (p.Asn1354fs)
|
rs886040192
|
|
NM_007294.4(BRCA1):c.4062_4068del (p.Asn1354fs)
|
rs397509134
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter)
|
rs886040193
|
|
NM_007294.4(BRCA1):c.4066_4069del (p.Gln1356fs)
|
rs397509135
|
|
NM_007294.4(BRCA1):c.4066del (p.Gln1356fs)
|
rs886040194
|
|
NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter)
|
rs886040195
|
|
NM_007294.4(BRCA1):c.406del (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.406dup (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.4071del (p.Glu1358fs)
|
rs886040197
|
|
NM_007294.4(BRCA1):c.4072G>T (p.Glu1358Ter)
|
rs397509136
|
|
NM_007294.4(BRCA1):c.4074_4090del (p.Gln1359fs)
|
rs886040198
|
|
NM_007294.4(BRCA1):c.4075C>T (p.Gln1359Ter)
|
rs80357456
|
|
NM_007294.4(BRCA1):c.4079del (p.Ser1360fs)
|
rs886040199
|
|
NM_007294.4(BRCA1):c.407del (p.Arg136fs)
|
rs886040200
|
|
NM_007294.4(BRCA1):c.4088C>G (p.Ser1363Ter)
|
rs398122680
|
|
NM_007294.4(BRCA1):c.4092_4093del (p.Leu1365fs)
|
rs397509137
|
|
NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter)
|
rs398122681
|
|
NM_007294.4(BRCA1):c.4097-78_4185+69del
|
rs1555586010
|
|
NM_007294.4(BRCA1):c.40del (p.Val14fs)
|
rs886040201
|
|
NM_007294.4(BRCA1):c.4107_4108insATCT (p.Ser1370fs)
|
rs886040202
|
|
NM_007294.4(BRCA1):c.4107_4110dup (p.Gly1371fs)
|
rs397509139
|
|
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)
|
rs80357861
|
|
NM_007294.4(BRCA1):c.4116del (p.Cys1372fs)
|
rs886040204
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
NM_007294.4(BRCA1):c.411_414del (p.Leu138fs)
|
rs886040203
|
|
NM_007294.4(BRCA1):c.411del (p.Leu138fs)
|
rs886040205
|
|
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer)
|
rs80357787
|
|
NM_007294.4(BRCA1):c.4122_4123del (p.Ser1374fs)
|
rs80357691
|
|
NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter)
|
rs80357397
|
|
NM_007294.4(BRCA1):c.4126_4129del (p.Thr1376fs)
|
rs886040206
|
|
NM_007294.4(BRCA1):c.4127del (p.Thr1376fs)
|
rs886040207
|
|
NM_007294.4(BRCA1):c.4129del (p.Ser1377fs)
|
rs886040208
|
|
NM_007294.4(BRCA1):c.4136_4137del (p.Val1378_Ser1379insTer)
|
rs397509141
|
|
NM_007294.4(BRCA1):c.4137_4138del (p.Glu1380fs)
|
rs886040209
|
|
NM_007294.4(BRCA1):c.4139_4140del (p.Glu1380fs)
|
rs886038032
|
|
NM_007294.4(BRCA1):c.4146_4155dup (p.Ser1386fs)
|
rs483353079
|
|
NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)
|
rs80357071
|
|
NM_007294.4(BRCA1):c.4158_4162del (p.Ser1387fs)
|
rs397509142
|
|
NM_007294.4(BRCA1):c.415C>T (p.Gln139Ter)
|
rs80357372
|
|
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs)
|
rs80357565
|
|
NM_007294.4(BRCA1):c.4162_4163del (p.Gln1388fs)
|
rs886040210
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.4165_4166dup (p.Ser1389fs)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.4167_4168del (p.Ser1389fs)
|
rs397509144
|
|
NM_007294.4(BRCA1):c.416dup (p.Ser140fs)
|
rs786203432
|
|
NM_007294.4(BRCA1):c.4175del (p.Ile1391_Leu1392insTer)
|
rs886040211
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185+1G>T
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4185+2T>C
|
rs431825406
|
|
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA
|
rs273900724
|
|
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4185_4185+3del
|
rs397509149
|
|
NM_007294.4(BRCA1):c.4186-1643_4357+2020del
|
|
|
NM_007294.4(BRCA1):c.4186-1787_4358-1668dup
|
|
|
NM_007294.4(BRCA1):c.4186-832_4357+1955del
|
|
|
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter)
|
rs80357011
|
|
NM_007294.4(BRCA1):c.418dup (p.Ser140fs)
|
rs886040212
|
|
NM_007294.4(BRCA1):c.4195_4196del (p.Thr1399fs)
|
rs80357649
|
|
NM_007294.4(BRCA1):c.4197del (p.Met1400fs)
|
rs886040213
|
|
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)
|
rs397509151
|
|
NM_007294.4(BRCA1):c.4205del (p.His1402fs)
|
rs886040214
|
|
NM_007294.4(BRCA1):c.4206_4207del (p.His1402fs)
|
rs886040215
|
|
NM_007294.4(BRCA1):c.4210del (p.Asn1403_Leu1404insTer)
|
rs80357765
|
|
NM_007294.4(BRCA1):c.4214del (p.Ile1405fs)
|
rs273900728
|
|
NM_007294.4(BRCA1):c.4216A>T (p.Lys1406Ter)
|
rs886040216
|
|
NM_007294.4(BRCA1):c.4218del (p.Lys1406fs)
|
rs886040217
|
|
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)
|
rs886040218
|
|
NM_007294.4(BRCA1):c.4228G>T (p.Glu1410Ter)
|
rs397509152
|
|
NM_007294.4(BRCA1):c.4239del (p.Glu1413fs)
|
rs886040219
|
|
NM_007294.4(BRCA1):c.4240dup (p.Leu1414fs)
|
rs397509154
|
|
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs)
|
rs80357977
|
|
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter)
|
rs80357305
|
|
NM_007294.4(BRCA1):c.4266dup (p.Ser1423fs)
|
rs397509158
|
|
NM_007294.4(BRCA1):c.4270C>T (p.Gln1424Ter)
|
rs886040220
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (p.Ser1428Ter)
|
rs886040896
|
|
NM_007294.4(BRCA1):c.4284_4285delinsG (p.Ser1428fs)
|
rs886040221
|
|
NM_007294.4(BRCA1):c.4285dup (p.Tyr1429fs)
|
rs1555584118
|
|
NM_007294.4(BRCA1):c.4289dup (p.Ser1431fs)
|
rs80357556
|
|
NM_007294.4(BRCA1):c.4290_4296del (p.Pro1430_Ser1431insTer)
|
rs886040222
|
|
NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs)
|
rs80357790
|
|
NM_007294.4(BRCA1):c.4309del (p.Ser1437fs)
|
rs886040223
|
|
NM_007294.4(BRCA1):c.431del (p.Asn144fs)
|
rs397509162
|
|
NM_007294.4(BRCA1):c.431dup (p.Asn144fs)
|
rs397509162
|
|
NM_007294.4(BRCA1):c.4321dup (p.Asp1441fs)
|
rs80357748
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4331_4332del (p.Asn1444fs)
|
rs397509163
|
|
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs)
|
rs397509164
|
|
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter)
|
rs80357067
|
|
NM_007294.4(BRCA1):c.4342dup (p.Ser1448fs)
|
rs886040225
|
|
NM_007294.4(BRCA1):c.4349C>G (p.Ser1450Ter)
|
rs886040226
|
|
NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter)
|
rs398122685
|
|
NM_007294.4(BRCA1):c.4357+1514_4484+547del
|
|
|
NM_007294.4(BRCA1):c.4357+1G>T
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4357+1_4357+10del
|
rs886040907
|
|
NM_007294.4(BRCA1):c.4357+1del
|
rs397509165
|
|
NM_007294.4(BRCA1):c.4357+6T>C
|
rs80358143
|
|
NM_007294.4(BRCA1):c.4358-1729_4986+736dup
|
|
|
NM_007294.4(BRCA1):c.4364T>G (p.Leu1455Ter)
|
rs886040227
|
|
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter)
|
rs80356932
|
|
NM_007294.4(BRCA1):c.4373_4389del (p.Gln1458fs)
|
rs80359885
|
|
NM_007294.4(BRCA1):c.4375A>T (p.Lys1459Ter)
|
rs886040228
|
|
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)
|
rs80356997
|
|
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)
|
rs273900730
|
|
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs)
|
rs80357916
|
|
NM_007294.4(BRCA1):c.4393del (p.Pro1464_Ile1465insTer)
|
rs397507230
|
|
NM_007294.4(BRCA1):c.4397_4398insA (p.Ser1466fs)
|
rs886040229
|
|
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter)
|
rs397509171
|
|
NM_007294.4(BRCA1):c.4401del (p.Asn1468fs)
|
rs587781611
|
|
NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter)
|
rs886040230
|
|
NM_007294.4(BRCA1):c.441+1G>A
|
rs397509172
|
|
NM_007294.4(BRCA1):c.441+2T>G
|
rs397509173
|
|
NM_007294.4(BRCA1):c.4416_4417delinsG (p.Ser1473fs)
|
rs397509174
|
|
NM_007294.4(BRCA1):c.4417del (p.Ser1473fs)
|
rs886040231
|
|
NM_007294.4(BRCA1):c.442-1129_547+223del
|
|
|
NM_007294.4(BRCA1):c.442-1235_976del
|
|
|
NM_007294.4(BRCA1):c.442-7T>A
|
rs886040909
|
|
NM_007294.4(BRCA1):c.442-822_593+506del
|
|
|
NM_007294.4(BRCA1):c.442-952_547dup
|
|
|
NM_007294.4(BRCA1):c.4453_4474del (p.Thr1485fs)
|
rs886040232
|
|
NM_007294.4(BRCA1):c.4456del (p.Ser1486fs)
|
rs397509179
|
|
NM_007294.4(BRCA1):c.4457del (p.Ser1486fs)
|
rs397509180
|
|
NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter)
|
rs80357148
|
|
NM_007294.4(BRCA1):c.4482_4483del (p.Arg1495fs)
|
rs80357854
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484+1G>T
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484+1del
|
rs397509181
|
|
NM_007294.4(BRCA1):c.4484+5G>C
|
rs886040910
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>C (p.Arg1495Thr)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4485-1G>C
|
rs80358189
|
|
NM_007294.4(BRCA1):c.4485-1G>T
|
rs80358189
|
|
NM_007294.4(BRCA1):c.4485-2A>G
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)
|
rs398122687
|
|
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)
|
rs747539984
|
|
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs)
|
rs273900736
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4527C>A (p.Tyr1509Ter)
|
rs886040233
|
|
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs)
|
rs80357534
|
|
NM_007294.4(BRCA1):c.4566C>A (p.Tyr1522Ter)
|
rs886040234
|
|
NM_007294.4(BRCA1):c.4566C>G (p.Tyr1522Ter)
|
rs886040234
|
|
NM_007294.4(BRCA1):c.4569_4570insCC (p.Ser1524fs)
|
rs886040235
|
|
NM_007294.4(BRCA1):c.4569_4572del (p.Ser1524fs)
|
rs886040236
|
|
NM_007294.4(BRCA1):c.4570del (p.Ser1524fs)
|
rs878853293
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.4575_4585del (p.Gln1525fs)
|
rs397509184
|
|
NM_007294.4(BRCA1):c.4576G>T (p.Glu1526Ter)
|
rs878853294
|
|
NM_007294.4(BRCA1):c.4591del (p.Val1531fs)
|
rs886040238
|
|
NM_007294.4(BRCA1):c.4593dup (p.Val1532fs)
|
rs886040239
|
|
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)
|
rs80357229
|
|
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs)
|
rs80357915
|
|
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter)
|
rs80356992
|
|
NM_007294.4(BRCA1):c.4618_4621delinsAAA (p.Glu1540fs)
|
rs886040240
|
|
NM_007294.4(BRCA1):c.4622_4623del (p.Glu1541fs)
|
rs886040241
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter)
|
rs80357151
|
|
NM_007294.4(BRCA1):c.4668dup (p.Asp1557fs)
|
rs886040242
|
|
NM_007294.4(BRCA1):c.4674del (p.Glu1559fs)
|
rs886040911
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+1G>C
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+2T>A
|
rs879255293
|
|
NM_007294.4(BRCA1):c.4675+2T>C
|
rs879255293
|
|
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
|
NM_007294.4(BRCA1):c.4676-1420_4986+900del
|
|
|
NM_007294.4(BRCA1):c.4676-1G>A
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4676-1G>T
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter)
|
rs80357349
|
|
NM_007294.4(BRCA1):c.4681del (p.Thr1561fs)
|
rs397509187
|
|
NM_007294.4(BRCA1):c.4684_4685del (p.Pro1562fs)
|
rs397509188
|
|
NM_007294.4(BRCA1):c.4688dup (p.Tyr1563Ter)
|
rs886040243
|
|
NM_007294.4(BRCA1):c.4696_4697insA (p.Ser1566fs)
|
rs483353095
|
|
NM_007294.4(BRCA1):c.4699_4708del (p.Gly1567fs)
|
rs886040244
|
|
NM_007294.4(BRCA1):c.4700_4710delinsA (p.Gly1567fs)
|
rs886040245
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer)
|
rs80357718
|
|
NM_007294.4(BRCA1):c.4724del (p.Pro1575fs)
|
rs397509191
|
|
NM_007294.4(BRCA1):c.4741G>T (p.Glu1581Ter)
|
rs397509193
|
|
NM_007294.4(BRCA1):c.4743del (p.Asp1582fs)
|
rs886040246
|
|
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)
|
rs80357837
|
|
NM_007294.4(BRCA1):c.4758_4759insA (p.Ser1587fs)
|
rs886040247
|
|
NM_007294.4(BRCA1):c.4784del (p.Ser1595fs)
|
rs886040248
|
|
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)
|
rs80357303
|
|
NM_007294.4(BRCA1):c.4806del (p.Gln1604fs)
|
rs886038036
|
|
NM_007294.4(BRCA1):c.4810C>T (p.Gln1604Ter)
|
rs80357352
|
|
NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter)
|
rs786202064
|
|
NM_007294.4(BRCA1):c.4834del (p.Gln1612fs)
|
rs886040249
|
|
NM_007294.4(BRCA1):c.4837del (p.Ser1613fs)
|
rs397509199
|
|
NM_007294.4(BRCA1):c.4838_4839insC (p.Pro1614fs)
|
rs397509200
|
|
NM_007294.4(BRCA1):c.4843dup (p.Ala1615fs)
|
rs80357615
|
|
NM_007294.4(BRCA1):c.485_486del (p.Val162fs)
|
rs80357708
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4873_4885del (p.Tyr1625fs)
|
rs397509201
|
|
NM_007294.4(BRCA1):c.4875T>A (p.Tyr1625Ter)
|
rs886040251
|
|
NM_007294.4(BRCA1):c.4877del (p.Asn1626fs)
|
rs886040252
|
|
NM_007294.4(BRCA1):c.4878dup (p.Ala1627fs)
|
rs886040253
|
|
NM_007294.4(BRCA1):c.4885dup (p.Glu1629fs)
|
rs886040254
|
|
NM_007294.4(BRCA1):c.4887_4893del (p.Glu1629_Glu1630insTer)
|
rs886040255
|
|
NM_007294.4(BRCA1):c.4891del (p.Ser1631fs)
|
rs80357656
|
|
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter)
|
rs200432771
|
|
NM_007294.4(BRCA1):c.4905_4906del (p.Lys1636fs)
|
rs397509203
|
|
NM_007294.4(BRCA1):c.4921del (p.Ala1641fs)
|
rs886040257
|
|
NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter)
|
rs397509205
|
|
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)
|
rs80357833
|
|
NM_007294.4(BRCA1):c.4936del (p.Val1646fs)
|
rs80357653
|
|
NM_007294.4(BRCA1):c.493_494del (p.Leu165fs)
|
rs397509206
|
|
NM_007294.4(BRCA1):c.4941del (p.Asn1647fs)
|
rs80357905
|
|
NM_007294.4(BRCA1):c.4945_4947delinsTTTT (p.Arg1649fs)
|
rs397509207
|
|
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs)
|
rs80357655
|
|
NM_007294.4(BRCA1):c.494dup (p.Arg166fs)
|
rs80357762
|
|
NM_007294.4(BRCA1):c.4964_4979del (p.Val1654_Ser1655insTer)
|
rs397509209
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)
|
rs879255295
|
|
NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter)
|
rs80357401
|
|
NM_007294.4(BRCA1):c.4986+1G>A
|
rs80358162
|
|
NM_007294.4(BRCA1):c.4986+1G>T
|
rs80358162
|
|
NM_007294.4(BRCA1):c.4986+2T>C
|
rs397509210
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+4A>C
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
NM_007294.4(BRCA1):c.4986+5G>C
|
rs397509211
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
NM_007294.4(BRCA1):c.4986+725_5074+84del
|
|
|
NM_007294.4(BRCA1):c.4986+890_5075-984del
|
|
|
NM_007294.4(BRCA1):c.4986+892_5075-981del
|
|
|
NM_007294.4(BRCA1):c.4986+955_5074+751del
|
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-1G>T
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-2A>G
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-577_5074+343del
|
|
|
NM_007294.4(BRCA1):c.4987-5T>A
|
rs397509214
|
|
NM_007294.4(BRCA1):c.4987-5T>C
|
rs397509214
|
|
NM_007294.4(BRCA1):c.4987_5074del (p.Val1665Serfs)
|
|
|
NM_007294.4(BRCA1):c.4987del (p.Met1663fs)
|
rs886040912
|
|
NM_007294.4(BRCA1):c.4995_5007dup (p.Arg1670fs)
|
rs1555579747
|
|
NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter)
|
rs80357204
|
|
NM_007294.4(BRCA1):c.500_501del (p.Thr167fs)
|
rs886040258
|
|
NM_007294.4(BRCA1):c.5013dup (p.His1672fs)
|
rs886040259
|
|
NM_007294.4(BRCA1):c.5019del (p.His1673fs)
|
rs886040260
|
|
NM_007294.4(BRCA1):c.5026_5027del (p.Leu1676fs)
|
rs397509217
|
|
NM_007294.4(BRCA1):c.5026_5036del (p.Leu1676fs)
|
rs80357894
|
|
NM_007294.4(BRCA1):c.5027T>A (p.Leu1676Ter)
|
rs786203754
|
|
NM_007294.4(BRCA1):c.5027del (p.Thr1675_Leu1676insTer)
|
rs397509217
|
|
NM_007294.4(BRCA1):c.502A>T (p.Lys168Ter)
|
rs886040263
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5030_5033dup (p.Asn1678_Leu1679insTer)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)
|
rs80357623
|
|
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)
|
rs80357896
|
|
NM_007294.4(BRCA1):c.5038_5041dup (p.Thr1681fs)
|
rs1555579686
|
|
NM_007294.4(BRCA1):c.5041_5042insTTAA (p.Thr1681fs)
|
rs886040264
|
|
NM_007294.4(BRCA1):c.5042del (p.Thr1681fs)
|
rs886040265
|
|
NM_007294.4(BRCA1):c.5044_5048delinsT (p.Thr1681_Glu1682insTer)
|
rs886040266
|
|
NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter)
|
rs80356879
|
|
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
|
rs879255283
|
|
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala)
|
rs80356890
|
|
NM_007294.4(BRCA1):c.5056dup (p.His1686fs)
|
rs80357974
|
|
NM_007294.4(BRCA1):c.5058_5059insCAAC (p.Val1687fs)
|
rs886040267
|
|
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)
|
rs80358344
|
|
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)
|
rs80357133
|
|
NM_007294.4(BRCA1):c.5065dup (p.Met1689fs)
|
rs886040268
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)
|
rs397507239
|
|
NM_007294.4(BRCA1):c.5071dup (p.Thr1691fs)
|
rs80357672
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1G>C
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1G>T
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5074+991_5193+1541del
|
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5074G>T (p.Asp1692Tyr)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075-1G>C
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-2A>C
|
rs80358066
|
|
NM_007294.4(BRCA1):c.5075-2A>G
|
rs80358066
|
|
NM_007294.4(BRCA1):c.5075-2del
|
rs886040913
|
|
NM_007294.4(BRCA1):c.5075-8T>G
|
rs397509221
|
|
NM_007294.4(BRCA1):c.5076del (p.Asp1692fs)
|
rs886040269
|
|
NM_007294.4(BRCA1):c.5077_5080delinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln)
|
rs397509224
|
|
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)
|
rs80358345
|
|
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)
|
rs80356896
|
|
NM_007294.4(BRCA1):c.5083_5084insG (p.Phe1695fs)
|
rs886040270
|
|
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs)
|
rs80357760
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)
|
rs80357608
|
|
NM_007294.4(BRCA1):c.5106del (p.Lys1702fs)
|
rs80357553
|
|
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)
|
rs80356974
|
|
NM_007294.4(BRCA1):c.5114_5121del (p.Leu1705fs)
|
rs886040271
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5126del (p.Gly1709fs)
|
rs80357874
|
|
NM_007294.4(BRCA1):c.5128G>T (p.Gly1710Ter)
|
rs397509229
|
|
NM_007294.4(BRCA1):c.5131A>T (p.Lys1711Ter)
|
rs886040272
|
|
NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter)
|
rs876658672
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg)
|
rs80357222
|
|
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)
|
rs80357094
|
|
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)
|
rs80356947
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
NM_007294.4(BRCA1):c.5152+149_5193+2200delinsTTTTTTTTTTTT
|
|
|
NM_007294.4(BRCA1):c.5152+1G>A
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>C
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>T
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+2T>A
|
rs886040914
|
|
NM_007294.4(BRCA1):c.5152+2dup
|
rs397509231
|
|
NM_007294.4(BRCA1):c.5152+3A>C
|
rs80358124
|
|
NM_007294.4(BRCA1):c.5152+5G>A
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5153-1G>A
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-2A>G
|
rs786202545
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5153G>A (p.Trp1718Ter)
|
rs41293461
|
|
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5155dup
|
rs80357743
|
|
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)
|
rs878854957
|
|
NM_007294.4(BRCA1):c.5161_5165del (p.Gln1721fs)
|
rs886040274
|
|
NM_007294.4(BRCA1):c.5162del (p.Gln1721fs)
|
rs397509233
|
|
NM_007294.4(BRCA1):c.5163_5164insC (p.Ser1722fs)
|
rs886040275
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5177_5178del (p.Arg1726fs)
|
rs80357730
|
|
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)
|
rs80357867
|
|
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)
|
rs80357347
|
|
NM_007294.4(BRCA1):c.518del (p.Pro173fs)
|
rs886040276
|
|
NM_007294.4(BRCA1):c.5193+1G>A
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1G>C
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1del
|
rs397509236
|
|
NM_007294.4(BRCA1):c.5193+2628_5277+670del
|
|
|
NM_007294.4(BRCA1):c.5193+2T>G
|
rs886040915
|
|
NM_007294.4(BRCA1):c.5193+2del
|
rs273901751
|
|
NM_007294.4(BRCA1):c.5193+340_5277+2206del
|
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5194-1G>C
|
rs80358173
|
|
NM_007294.4(BRCA1):c.5194-1G>T
|
rs80358173
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5194-452_5278-2297del
|
|
|
NM_007294.4(BRCA1):c.51del (p.Met18fs)
|
rs886037967
|
|
NM_007294.4(BRCA1):c.5208_5247delinsTC (p.Arg1737fs)
|
rs886040277
|
|
NM_007294.4(BRCA1):c.5209A>T (p.Arg1737Ter)
|
rs80357496
|
|
NM_007294.4(BRCA1):c.5209dup (p.Arg1737fs)
|
rs886040278
|
|
NM_007294.4(BRCA1):c.520del (p.Gln174fs)
|
rs80357639
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5212G>T (p.Gly1738Ter)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)
|
rs80357450
|
|
NM_007294.4(BRCA1):c.5213del (p.Gly1738fs)
|
rs886040279
|
|
NM_007294.4(BRCA1):c.5221_5224del (p.Val1741fs)
|
rs886040280
|
|
NM_007294.4(BRCA1):c.5230_5237del (p.Arg1744fs)
|
rs886040281
|
|
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter)
|
rs80357367
|
|
NM_007294.4(BRCA1):c.5239del (p.Gln1747fs)
|
rs886040282
|
|
NM_007294.4(BRCA1):c.5256_5278-2757del
|
|
|
NM_007294.4(BRCA1):c.5257dup (p.Arg1753fs)
|
rs397509245
|
|
NM_007294.4(BRCA1):c.5259del (p.Glu1754fs)
|
rs80357925
|
|
NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter)
|
rs80357432
|
|
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter)
|
rs397509247
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5267_5268insC (p.Gln1756fs)
|
rs886040284
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+1del
|
rs273901754
|
|
NM_007294.4(BRCA1):c.5277+2100_5467+344dup
|
|
|
NM_007294.4(BRCA1):c.5278-1G>A
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5278-1G>T
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5278-2A>G
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-2del
|
rs878853285
|
|
NM_007294.4(BRCA1):c.5282del (p.Phe1761fs)
|
rs886040285
|
|
NM_007294.4(BRCA1):c.5289del (p.Gly1763_Leu1764insTer)
|
rs80357886
|
|
NM_007294.4(BRCA1):c.5289dup (p.Leu1764fs)
|
rs80357886
|
|
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)
|
rs80357281
|
|
NM_007294.4(BRCA1):c.5297T>A (p.Ile1766Asn)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5299del (p.Cys1767fs)
|
rs886040286
|
|
NM_007294.4(BRCA1):c.529del (p.Ser177fs)
|
rs80357758
|
|
NM_007294.4(BRCA1):c.5300_5301del (p.Cys1767fs)
|
rs886040287
|
|
NM_007294.4(BRCA1):c.5301T>A (p.Cys1767Ter)
|
rs886040288
|
|
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)
|
rs886040289
|
|
NM_007294.4(BRCA1):c.5307T>A (p.Tyr1769Ter)
|
rs397509258
|
|
NM_007294.4(BRCA1):c.5310del (p.Phe1772fs)
|
rs80357581
|
|
NM_007294.4(BRCA1):c.5311_5332+1del
|
rs886040916
|
|
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)
|
rs80357823
|
|
NM_007294.4(BRCA1):c.531del (p.Val178fs)
|
rs886040290
|
|
NM_007294.4(BRCA1):c.5320_5321del (p.Asn1774fs)
|
rs80357818
|
|
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.5328dup (p.Thr1777fs)
|
rs80357751
|
|
NM_007294.4(BRCA1):c.5331_5332+6delinsCAACAT
|
rs886040917
|
|
NM_007294.4(BRCA1):c.5332+1G>A
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+1G>T
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+2T>A
|
rs80358182
|
|
NM_007294.4(BRCA1):c.5332+2T>C
|
rs80358182
|
|
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5333-198_5387del
|
rs1555575109
|
|
NM_007294.4(BRCA1):c.5333-1G>C
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-1G>T
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-2A>C
|
rs397509264
|
|
NM_007294.4(BRCA1):c.5333-36_5406+400del
|
rs1555574977
|
|
NM_007294.4(BRCA1):c.5333-3T>G
|
rs397509265
|
|
NM_007294.4(BRCA1):c.5335C>T (p.Gln1779Ter)
|
rs397509267
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
NM_007294.4(BRCA1):c.5341G>T (p.Glu1781Ter)
|
rs397509268
|
|
NM_007294.4(BRCA1):c.5341_5343delinsTG (p.Glu1781fs)
|
rs886040291
|
|
NM_007294.4(BRCA1):c.5341del (p.Glu1781fs)
|
rs80357694
|
|
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter)
|
rs80357219
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs)
|
rs80357744
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
NM_007294.4(BRCA1):c.5353_5354dup (p.Gln1785fs)
|
rs886040293
|
|
NM_007294.4(BRCA1):c.5359T>A (p.Cys1787Ser)
|
rs80357065
|
|
NM_007294.4(BRCA1):c.5361_5362del (p.Cys1787fs)
|
rs886040294
|
|
NM_007294.4(BRCA1):c.5386del (p.Ser1796fs)
|
rs80357838
|
|
NM_007294.4(BRCA1):c.5389dup (p.Ser1797fs)
|
rs886040295
|
|
NM_007294.4(BRCA1):c.5390C>G (p.Ser1797Ter)
|
rs879255492
|
|
NM_007294.4(BRCA1):c.5406+1G>A
|
rs80358028
|
|
NM_007294.4(BRCA1):c.5406+1_5406+3del
|
rs397509277
|
|
NM_007294.4(BRCA1):c.5406+2del
|
rs273901765
|
|
NM_007294.4(BRCA1):c.5406+3A>T
|
rs397509278
|
|
NM_007294.4(BRCA1):c.5406+5G>A
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5406+5G>C
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5407-1G>A
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5407-1G>C
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5407-2A>G
|
rs80358002
|
|
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)
|
rs80357558
|
|
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)
|
rs80357934
|
|
NM_007294.4(BRCA1):c.5419dup (p.Ile1807fs)
|
rs80357934
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)
|
rs397509284
|
|
NM_007294.4(BRCA1):c.5449G>T (p.Glu1817Ter)
|
rs80356868
|
|
NM_007294.4(BRCA1):c.5450_5451del (p.Glu1817fs)
|
rs397509286
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
NM_007294.4(BRCA1):c.5467+1del
|
rs886040918
|
|
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5468-11_5520dup
|
rs1555574411
|
|
NM_007294.4(BRCA1):c.5468-1G>A
|
rs80358048
|
|
NM_007294.4(BRCA1):c.5468-2A>G
|
rs398122699
|
|
NM_007294.4(BRCA1):c.5468-2A>T
|
rs398122699
|
|
NM_007294.4(BRCA1):c.547+1G>T
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007294.4(BRCA1):c.547+3A>T
|
rs886040919
|
|
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA
|
rs80357973
|
|
NM_007294.4(BRCA1):c.5478_5479dup (p.Met1827fs)
|
rs80357757
|
|
NM_007294.4(BRCA1):c.5483del (p.Cys1828fs)
|
rs397509288
|
|
NM_007294.4(BRCA1):c.5485dup (p.Glu1829fs)
|
rs768401297
|
|
NM_007294.4(BRCA1):c.5486_5510del (p.Glu1829fs)
|
rs886040297
|
|
NM_007294.4(BRCA1):c.5490del (p.Pro1831fs)
|
rs80357976
|
|
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs)
|
rs80357582
|
|
NM_007294.4(BRCA1):c.5493_5494insTT (p.Val1832fs)
|
rs886040298
|
|
NM_007294.4(BRCA1):c.5496_5499del (p.Val1833fs)
|
rs878853296
|
|
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5503_5506del (p.Arg1835fs)
|
rs886040300
|
|
NM_007294.4(BRCA1):c.5503_5564del (p.Arg1835fs)
|
rs80359883
|
|
NM_007294.4(BRCA1):c.5503del (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5506G>T (p.Glu1836Ter)
|
rs80356942
|
|
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)
|
rs80357307
|
|
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu)
|
rs80357107
|
|
NM_007294.4(BRCA1):c.5521del (p.Ser1841fs)
|
rs80357721
|
|
NM_007294.4(BRCA1):c.5535C>A (p.Tyr1845Ter)
|
rs80356977
|
|
NM_007294.4(BRCA1):c.5535C>G (p.Tyr1845Ter)
|
rs80356977
|
|
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)
|
rs80356873
|
|
NM_007294.4(BRCA1):c.5537_5556del (p.Gln1846fs)
|
rs886040302
|
|
NM_007294.4(BRCA1):c.5542C>T (p.Gln1848Ter)
|
rs886040303
|
|
NM_007294.4(BRCA1):c.5548del (p.Leu1850fs)
|
rs397509296
|
|
NM_007294.4(BRCA1):c.5551del (p.Asp1851fs)
|
rs886040304
|
|
NM_007294.4(BRCA1):c.5553dup (p.Thr1852fs)
|
rs397509297
|
|
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)
|
rs886040305
|
|
NM_007294.4(BRCA1):c.5560del (p.Tyr1853_Leu1854insTer)
|
rs886040306
|
|
NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter)
|
rs397509299
|
|
NM_007294.4(BRCA1):c.569_570insAACG (p.Val191fs)
|
rs397509300
|
|
NM_007294.4(BRCA1):c.594_597delTGTG
|
rs797045175
|
|
NM_007294.4(BRCA1):c.61del (p.Ile21fs)
|
rs273902778
|
|
NM_007294.4(BRCA1):c.626del (p.Pro209fs)
|
rs886040920
|
|
NM_007294.4(BRCA1):c.628C>T (p.Gln210Ter)
|
rs879255495
|
|
NM_007294.4(BRCA1):c.62_65del (p.Ile21fs)
|
rs886040307
|
|
NM_007294.4(BRCA1):c.640del (p.Asp214fs)
|
rs886040921
|
|
NM_007294.4(BRCA1):c.64_65dup (p.Leu22fs)
|
rs80357642
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.667_668del (p.Lys223fs)
|
rs80357537
|
|
NM_007294.4(BRCA1):c.668del (p.Lys223fs)
|
rs80357537
|
|
NM_007294.4(BRCA1):c.668dup (p.Ala224fs)
|
rs80357537
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.670+1del
|
rs886040922
|
|
NM_007294.4(BRCA1):c.671-1G>A
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-1G>T
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-215_901del
|
rs1555592870
|
|
NM_007294.4(BRCA1):c.671-26_1781del
|
|
|
NM_007294.4(BRCA1):c.671-2A>C
|
rs80358108
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
NM_007294.4(BRCA1):c.671-2A>T
|
rs80358108
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.678T>A (p.Cys226Ter)
|
rs397509308
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs)
|
rs886040308
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.68dup (p.Cys24fs)
|
rs397509309
|
|
NM_007294.4(BRCA1):c.697_698del (p.Val233fs)
|
rs80357747
|
|
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
NM_007294.4(BRCA1):c.69dup (p.Cys24fs)
|
rs1555600893
|
|
NM_007294.4(BRCA1):c.707del (p.Thr236fs)
|
rs886040311
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.70_73dup (p.Pro25fs)
|
rs397509310
|
|
NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter)
|
rs886040313
|
|
NM_007294.4(BRCA1):c.71_72del (p.Cys24fs)
|
rs886040312
|
|
NM_007294.4(BRCA1):c.743_744insA (p.Thr249fs)
|
rs886040315
|
|
NM_007294.4(BRCA1):c.750_751del (p.Lys251fs)
|
rs886040316
|
|
NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter)
|
rs80357009
|
|
NM_007294.4(BRCA1):c.778_779dup (p.Tyr261fs)
|
rs886040317
|
|
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter)
|
rs80357321
|
|
NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter)
|
rs886037979
|
|
NM_007294.4(BRCA1):c.784del (p.Gln262fs)
|
rs886040318
|
|
NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer)
|
rs886040319
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.799dup (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.80+1G>A
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+1G>C
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+1G>T
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+2T>A
|
rs80358128
|
|
NM_007294.4(BRCA1):c.80+2T>G
|
rs80358128
|
|
NM_007294.4(BRCA1):c.80+5G>A
|
rs80358045
|
|
NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter)
|
rs80357392
|
|
NM_007294.4(BRCA1):c.807_817dup (p.Pro273fs)
|
rs886040320
|
|
NM_007294.4(BRCA1):c.81-1588_134+1725del
|
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-1G>C
|
rs80358018
|
|
NM_007294.4(BRCA1):c.814G>T (p.Glu272Ter)
|
rs886040321
|
|
NM_007294.4(BRCA1):c.815_816insTCCATGTGGA (p.Glu272fs)
|
rs886040322
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007294.4(BRCA1):c.829_830del (p.Asn277fs)
|
rs886040323
|
|
NM_007294.4(BRCA1):c.829_836del (p.Asn277fs)
|
rs886040324
|
|
NM_007294.4(BRCA1):c.832dup (p.Thr278fs)
|
rs886040325
|
|
NM_007294.4(BRCA1):c.835del (p.His279fs)
|
rs80357523
|
|
NM_007294.4(BRCA1):c.83_84del (p.Leu28fs)
|
rs80357728
|
|
NM_007294.4(BRCA1):c.841_842dup (p.Ser281fs)
|
rs80357792
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)
|
rs80357989
|
|
NM_007294.4(BRCA1):c.848T>G (p.Leu283Ter)
|
rs273902792
|
|
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter)
|
rs397509330
|
|
NM_007294.4(BRCA1):c.856G>T (p.Glu286Ter)
|
rs886037980
|
|
NM_007294.4(BRCA1):c.85G>T (p.Glu29Ter)
|
rs80357443
|
|
NM_007294.4(BRCA1):c.861_862dup (p.Ser288fs)
|
rs886040326
|
|
NM_007294.4(BRCA1):c.862del (p.Ser288fs)
|
rs886040327
|
|
NM_007294.4(BRCA1):c.873dup (p.Leu292fs)
|
rs886040328
|
|
NM_007294.4(BRCA1):c.874del (p.Leu292fs)
|
rs886040329
|
|
NM_007294.4(BRCA1):c.882del (p.Asp295fs)
|
rs80357587
|
|
NM_007294.4(BRCA1):c.895_896del (p.Val299fs)
|
rs80357670
|
|
NM_007294.4(BRCA1):c.898G>T (p.Glu300Ter)
|
rs886040330
|
|
NM_007294.4(BRCA1):c.89T>A (p.Leu30Ter)
|
rs397509331
|
|
NM_007294.4(BRCA1):c.904del (p.Ala302fs)
|
rs273903793
|
|
NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer)
|
rs397509335
|
|
NM_007294.4(BRCA1):c.923_924del (p.Ser308fs)
|
rs886040331
|
|
NM_007294.4(BRCA1):c.923del (p.Ser308fs)
|
rs80357953
|
|
NM_007294.4(BRCA1):c.924del (p.Ser308fs)
|
rs397509336
|
|
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)
|
rs879255498
|
|
NM_007294.4(BRCA1):c.927del (p.Lys309fs)
|
rs397509337
|
|
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter)
|
rs397509338
|
|
NM_007294.4(BRCA1):c.929del (p.Gln310fs)
|
rs80357844
|
|
NM_007294.4(BRCA1):c.930del (p.Gln310fs)
|
rs80357689
|
|
NM_007294.4(BRCA1):c.93del (p.Lys32fs)
|
rs886040332
|
|
NM_007294.4(BRCA1):c.944_1007del (p.Arg315fs)
|
rs1555592683
|
|
NM_007294.4(BRCA1):c.949C>T (p.Gln317Ter)
|
rs80357211
|
|
NM_007294.4(BRCA1):c.952_1015del (p.His318fs)
|
rs80359872
|
|
NM_007294.4(BRCA1):c.953del (p.His318fs)
|
rs886040333
|
|
NM_007294.4(BRCA1):c.958del (p.Arg320fs)
|
rs886040334
|
|
NM_007294.4(BRCA1):c.959_960del (p.Arg320fs)
|
rs397509339
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter)
|
rs886040335
|
|
NM_007294.4(BRCA1):c.964del (p.Ala322fs)
|
rs273903794
|
|
NM_007294.4(BRCA1):c.966del (p.Gly323fs)
|
rs886040336
|
|
NM_007294.4(BRCA1):c.979del (p.Thr327fs)
|
rs886040337
|
|
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)
|
rs80357772
|
|
NM_007294.4(BRCA1):c.984_988del (p.Cys328_Asp330delinsTer)
|
rs786204262
|
|
NM_007294.4(BRCA1):c.98_105del (p.Glu33fs)
|
rs886040338
|
|
Single allele
|
|
|