NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
|
rs80357498
|
0.00003
|
NM_007294.4(BRCA1):c.4358-2786G>A
|
rs374435098
|
0.00003
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
NM_007294.4(BRCA1):c.5332+4A>G
|
rs80358166
|
0.00002
|
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg)
|
rs80356880
|
0.00001
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
NM_007294.4(BRCA1):c.301+1G>T
|
rs587782173
|
0.00001
|
NM_007294.4(BRCA1):c.4097-2A>G
|
rs80358019
|
0.00001
|
NM_007294.4(BRCA1):c.4185+4105C>T
|
rs1597853155
|
0.00001
|
NM_007294.4(BRCA1):c.442-1G>T
|
rs1351019392
|
0.00001
|
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
|
rs80356988
|
0.00001
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro)
|
rs80357474
|
0.00001
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
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
|
GRCh37/hg19 17q21.31(chr17:41199581-41231493)x4
|
|
|
GRCh37/hg19 17q21.31(chr17:41251742-41267846)x3
|
|
|
NC_000017.10:g.(41199721_41201137)_(41203135_41209068)dup
|
|
|
NC_000017.10:g.(41209153_41215349)_(41228632_41234420)dup
|
|
|
NC_000017.10:g.(41223256_41226347)_(41258551_41267742)del
|
|
|
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
|
|
|
NC_000017.10:g.(41247940_41249260)_(41256279_41256884)del
|
|
|
NC_000017.10:g.(41247940_41249260)_41251831del
|
|
|
NC_000017.10:g.(?_41199640)_(41203154_?)dup
|
|
|
NC_000017.10:g.(?_41201118)_(41203154_?)dup
|
|
|
NC_000017.10:g.(?_41209048)_(41209172_?)dup
|
|
|
NC_000017.10:g.(?_41209048)_(41215988_?)dup
|
|
|
NC_000017.10:g.(?_41209049)_(41215988_?)dup
|
|
|
NC_000017.10:g.(?_41209063)_(41209158_?)dup
|
|
|
NC_000017.10:g.(?_41215330)_(41223340_?)dup
|
|
|
NC_000017.10:g.(?_41226531)_(41230159_?)del
|
|
|
NC_000017.10:g.(?_41228505)_(41234592_?)dup
|
|
|
NC_000017.10:g.(?_41242941)_(41249326_?)dup
|
|
|
NC_000017.10:g.(?_41245526)_(41252711_?)del
|
|
|
NC_000017.10:g.(?_41247857)_(41251903_?)del
|
|
|
NC_000017.10:g.(?_41249241)_(41251921_?)dup
|
|
|
NC_000017.10:g.(?_41251772)_(41251917_?)dup
|
|
|
NC_000017.10:g.(?_41251772)_(41251921_?)dup
|
|
|
NC_000017.10:g.(?_41251772)_(41258570_?)dup
|
|
|
NC_000017.10:g.(?_41251772)_(41267816_?)dup
|
|
|
NC_000017.10:g.(?_41256119)_(41258570_?)dup
|
|
|
NC_000017.10:g.(?_41256119)_(41267816_?)dup
|
|
|
NC_000017.10:g.(?_41267737)_(41267802_?)dup
|
|
|
NC_000017.11:g.(?_43070908)_(43071258_?)dup
|
|
|
NC_000017.11:g.(?_43074311)_(43082595_?)dup
|
|
|
NC_000017.11:g.(?_43076468)_(43082595_?)dup
|
|
|
NC_000017.11:g.(?_43090924)_(43099904_?)del
|
|
|
NC_000017.11:g.(?_43090924)_(43115799_?)dup
|
|
|
NC_000017.11:g.(?_43106450)_(43106539_?)del
|
|
|
NC_000017.11:g.(?_43115706)_(43115799_?)dup
|
|
|
NG_005905.2:g.(111529_113027)_(147057_150288)del
|
|
|
NG_005905.2:g.(141497_143462)_(154111_154610)dup
|
|
|
NG_005905.2:g.(92714_93868)_(173690_?)del
|
|
|
NM_007294.3(BRCA1):c.135-?_441+?dup
|
|
|
NM_007294.3(BRCA1):c.4358-?_5074+?del
|
|
|
NM_007294.3(BRCA1):c.442-?_547+?(2)
|
|
|
NM_007294.3(BRCA1):c.5075-?_5277+?dup203
|
|
|
NM_007294.3(BRCA1):c.5193+3_5193+15del
|
rs273901752
|
|
NM_007294.3(BRCA1):c.5278-?_5406+?dup129
|
|
|
NM_007294.3(BRCA1):c.5408delG
|
|
|
NM_007294.3(BRCA1):c.5543_5545delAGGins43 (p.?)
|
|
|
NM_007294.3(BRCA1):c.81-?_134+?del
|
|
|
NM_007294.3(BRCA1):c.[-1A>G;3G>A]
|
|
|
NM_007294.3:c.(134+1_135-1)_(593+1_594-1)dup
|
|
|
NM_007294.3:c.(4986+1_4987-1)_(5074+1_5075-1)dup
|
|
|
NM_007294.3:c.1569_1570insSVA
|
|
|
NM_007294.3:c.2692_2693insALU
|
|
|
NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs)
|
rs1555592671
|
|
NM_007294.4(BRCA1):c.100C>T (p.Pro34Ser)
|
rs1064793357
|
|
NM_007294.4(BRCA1):c.1015A>T (p.Lys339Ter)
|
rs55842957
|
|
NM_007294.4(BRCA1):c.1015_1016del (p.Lys339fs)
|
|
|
NM_007294.4(BRCA1):c.101C>G (p.Pro34Arg)
|
rs786203319
|
|
NM_007294.4(BRCA1):c.101C>T (p.Pro34Leu)
|
rs786203319
|
|
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)
|
rs886037985
|
|
NM_007294.4(BRCA1):c.104T>C (p.Val35Ala)
|
rs1235706456
|
|
NM_007294.4(BRCA1):c.1061del (p.Asn354fs)
|
rs2154478354
|
|
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs)
|
rs1555592526
|
|
NM_007294.4(BRCA1):c.1095del (p.Asp366fs)
|
rs2154476432
|
|
NM_007294.4(BRCA1):c.109A>G (p.Thr37Ala)
|
rs2055253295
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs)
|
rs2154475092
|
|
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)
|
rs876659327
|
|
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)
|
rs80357498
|
|
NM_007294.4(BRCA1):c.1194dup (p.His399fs)
|
rs1555592264
|
|
NM_007294.4(BRCA1):c.121C>A (p.His41Asn)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.121C>G (p.His41Asp)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.121dup (p.His41fs)
|
rs1555599226
|
|
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.122_134delinsT (p.His41_Lys45delinsLeu)
|
rs1555599205
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)
|
rs1597911705
|
|
NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)
|
rs876658362
|
|
NM_007294.4(BRCA1):c.132C>T (p.Cys44=)
|
rs876658362
|
|
NM_007294.4(BRCA1):c.134+1G>C
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+1G>T
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+2T>G
|
rs80358131
|
|
NM_007294.4(BRCA1):c.134+3A>T
|
rs80358064
|
|
NM_007294.4(BRCA1):c.134+3_134+6del
|
rs397508858
|
|
NM_007294.4(BRCA1):c.134+5G>A
|
rs80358038
|
|
NM_007294.4(BRCA1):c.134+5G>C
|
rs80358038
|
|
NM_007294.4(BRCA1):c.134+5G>T
|
rs80358038
|
|
NM_007294.4(BRCA1):c.135-1G>A
|
rs80358158
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
NM_007294.4(BRCA1):c.1386dup (p.Lys463fs)
|
rs80357722
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1399_1453dup (p.Ala485delinsGluGluGlyLysProProGlnLeuLysProCysAsnTer)
|
rs2053936273
|
|
NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly)
|
rs80357370
|
|
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)
|
rs80357734
|
|
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.1440_1441insA (p.Leu481fs)
|
rs80357778
|
|
NM_007294.4(BRCA1):c.1442dup (p.Ile482fs)
|
rs1555591746
|
|
NM_007294.4(BRCA1):c.1468_1513dup (p.Lys505delinsThrThrAspAsnThrArgAlaSerProHisLysTer)
|
rs2154441580
|
|
NM_007294.4(BRCA1):c.1485del (p.Glu495fs)
|
rs1555591703
|
|
NM_007294.4(BRCA1):c.1498_1499del (p.Thr499_Asn500insTer)
|
|
|
NM_007294.4(BRCA1):c.1499del (p.Asn500fs)
|
rs397508874
|
|
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)
|
rs876659139
|
|
NM_007294.4(BRCA1):c.1600del (p.Gln534fs)
|
rs869320776
|
|
NM_007294.4(BRCA1):c.1604del (p.Gly535fs)
|
rs2154434302
|
|
NM_007294.4(BRCA1):c.1641_1642insG (p.Ile548fs)
|
rs1597874930
|
|
NM_007294.4(BRCA1):c.166_169del (p.Lys56fs)
|
rs2154555258
|
|
NM_007294.4(BRCA1):c.1670_1673del (p.Thr557fs)
|
rs1555591390
|
|
NM_007294.4(BRCA1):c.1670_1674del (p.Thr557fs)
|
rs2053902770
|
|
NM_007294.4(BRCA1):c.1687del (p.Gln563fs)
|
|
|
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)
|
rs730881473
|
|
NM_007294.4(BRCA1):c.1723dup (p.Glu575fs)
|
rs1555591335
|
|
NM_007294.4(BRCA1):c.1728_1731del (p.Lys576fs)
|
rs2154427544
|
|
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter)
|
rs55650082
|
|
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)
|
rs28897672
|
|
NM_007294.4(BRCA1):c.1825_1829del (p.Asn609fs)
|
rs1555591170
|
|
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs)
|
rs397508912
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
NM_007294.4(BRCA1):c.190T>A (p.Cys64Ser)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter)
|
rs878854935
|
|
NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs)
|
rs886039982
|
|
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)
|
rs587781632
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1967_1985del (p.Asn656fs)
|
|
|
NM_007294.4(BRCA1):c.1978del (p.Val660fs)
|
rs886039988
|
|
NM_007294.4(BRCA1):c.1994del (p.Asn665fs)
|
rs1555590714
|
|
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs)
|
rs397508931
|
|
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg)
|
rs80357116
|
|
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)
|
rs863224510
|
|
NM_007294.4(BRCA1):c.208_212+22del
|
rs1555597152
|
|
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
|
rs80357298
|
|
NM_007294.4(BRCA1):c.211A>T (p.Arg71Trp)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.212+1del
|
rs786203526
|
|
NM_007294.4(BRCA1):c.212+2T>C
|
rs80358026
|
|
NM_007294.4(BRCA1):c.212+3A>T
|
rs80358083
|
|
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.213-15A>G
|
rs886040903
|
|
NM_007294.4(BRCA1):c.213-5T>A
|
rs886038196
|
|
NM_007294.4(BRCA1):c.213-7A>G
|
rs2054700180
|
|
NM_007294.4(BRCA1):c.2131A>T (p.Lys711Ter)
|
|
|
NM_007294.4(BRCA1):c.2133del (p.Lys711fs)
|
|
|
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)
|
rs273898681
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2214del (p.Val740fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs)
|
rs2053797991
|
|
NM_007294.4(BRCA1):c.2278dup (p.Thr760fs)
|
|
|
NM_007294.4(BRCA1):c.2295del (p.Ser766fs)
|
rs1567796243
|
|
NM_007294.4(BRCA1):c.2308_2311delinsCAC (p.Ser770fs)
|
|
|
NM_007294.4(BRCA1):c.231G>T (p.Thr77=)
|
rs80356847
|
|
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)
|
rs431825390
|
|
NM_007294.4(BRCA1):c.2346del (p.Ser782fs)
|
rs2053777106
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)
|
rs55914168
|
|
NM_007294.4(BRCA1):c.2402_2404delinsCATTTCCCCTATAGCAAAAACATGACGGCACTTACTGTATCAA (p.Cys801_Val802delinsSerPheProLeuTer)
|
rs1567795809
|
|
NM_007294.4(BRCA1):c.2405dup (p.Ser803fs)
|
|
|
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)
|
rs397508967
|
|
NM_007294.4(BRCA1):c.247G>T (p.Val83Phe)
|
rs1060502343
|
|
NM_007294.4(BRCA1):c.2569_2570del (p.Leu857fs)
|
|
|
NM_007294.4(BRCA1):c.25del (p.Glu9fs)
|
rs2154578048
|
|
NM_007294.4(BRCA1):c.2620_2621del (p.Asn874fs)
|
rs587781423
|
|
NM_007294.4(BRCA1):c.2624del (p.Pro875fs)
|
rs2154368003
|
|
NM_007294.4(BRCA1):c.2630del (p.Asn877fs)
|
rs886038002
|
|
NM_007294.4(BRCA1):c.2632_2653del (p.Ala878fs)
|
|
|
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)
|
rs80357251
|
|
NM_007294.4(BRCA1):c.2640_2643dup (p.Cys882fs)
|
rs2154367150
|
|
NM_007294.4(BRCA1):c.2643del (p.Glu881fs)
|
rs397508989
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
NM_007294.4(BRCA1):c.2693_2694dup (p.Val899fs)
|
rs80357549
|
|
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer)
|
rs886040065
|
|
NM_007294.4(BRCA1):c.2728del (p.Gln910fs)
|
rs397509005
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
NM_007294.4(BRCA1):c.2756del (p.Pro919fs)
|
rs2154361062
|
|
NM_007294.4(BRCA1):c.2806_2807del (p.Lys935_Asp936insTer)
|
rs886038004
|
|
NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter)
|
rs1555588915
|
|
NM_007294.4(BRCA1):c.2817del (p.Asp940fs)
|
|
|
NM_007294.4(BRCA1):c.2844_2845del (p.Gly949fs)
|
|
|
NM_007294.4(BRCA1):c.284T>C (p.Leu95Pro)
|
rs2054675041
|
|
NM_007294.4(BRCA1):c.2857del (p.Cys953fs)
|
rs397509019
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
NM_007294.4(BRCA1):c.286G>A (p.Asp96Asn)
|
rs80357110
|
|
NM_007294.4(BRCA1):c.286G>C (p.Asp96His)
|
rs80357110
|
|
NM_007294.4(BRCA1):c.287A>C (p.Asp96Ala)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.2905_2912del (p.Asn969fs)
|
|
|
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)
|
rs878854940
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
NM_007294.4(BRCA1):c.2921T>G (p.Leu974Ter)
|
rs80356872
|
|
NM_007294.4(BRCA1):c.2926_2941dup (p.Pro981fs)
|
rs2053667627
|
|
NM_007294.4(BRCA1):c.2930del (p.Pro977fs)
|
|
|
NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter)
|
rs878854941
|
|
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.302-1G>A
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1G>C
|
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.3026C>A (p.Ser1009Ter)
|
rs273899696
|
|
NM_007294.4(BRCA1):c.3054del (p.Asn1018fs)
|
|
|
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer)
|
rs786202906
|
|
NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs)
|
rs1064794177
|
|
NM_007294.4(BRCA1):c.315T>G (p.Tyr105Ter)
|
rs2054639807
|
|
NM_007294.4(BRCA1):c.32T>G (p.Val11Gly)
|
rs80357017
|
|
NM_007294.4(BRCA1):c.346del (p.Glu116fs)
|
rs762635795
|
|
NM_007294.4(BRCA1):c.379del (p.Ser127fs)
|
rs1555596373
|
|
NM_007294.4(BRCA1):c.38_39delinsGGG (p.Asn13fs)
|
rs1567823382
|
|
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)
|
rs879255485
|
|
NM_007294.4(BRCA1):c.4097-1G>A
|
rs80358070
|
|
NM_007294.4(BRCA1):c.4097-20_4134del
|
rs2053440925
|
|
NM_007294.4(BRCA1):c.4106_4110delinsATC (p.Ala1369fs)
|
|
|
NM_007294.4(BRCA1):c.4116_4117del (p.Cys1372_Glu1373delinsTer)
|
rs80357804
|
|
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)
|
rs398122682
|
|
NM_007294.4(BRCA1):c.411dup (p.Leu138fs)
|
rs886040205
|
|
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter)
|
rs1057517574
|
|
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro)
|
rs876658221
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185+1G>C
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4185+1G>T
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4185+2_4185+21del
|
rs2154249606
|
|
NM_007294.4(BRCA1):c.4185+2del
|
rs2053429850
|
|
NM_007294.4(BRCA1):c.4185+4_4185+22del
|
rs2053427306
|
|
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4185_4185+1del
|
|
|
NM_007294.4(BRCA1):c.4192del (p.Asp1398fs)
|
|
|
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg)
|
rs80356916
|
|
NM_007294.4(BRCA1):c.4211del (p.Leu1404fs)
|
rs1555584251
|
|
NM_007294.4(BRCA1):c.4224G>C (p.Gln1408His)
|
rs1597848407
|
|
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr)
|
rs273900729
|
|
NM_007294.4(BRCA1):c.4243G>T (p.Glu1415Ter)
|
rs1057519558
|
|
NM_007294.4(BRCA1):c.4271_4295del (p.Gln1424fs)
|
rs2053050323
|
|
NM_007294.4(BRCA1):c.4297del (p.Ile1432_Ile1433insTer)
|
rs2154151012
|
|
NM_007294.4(BRCA1):c.4321G>A (p.Asp1441Asn)
|
|
|
NM_007294.4(BRCA1):c.4321del (p.Asp1441fs)
|
rs80357748
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4336G>T (p.Glu1446Ter)
|
|
|
NM_007294.4(BRCA1):c.4356del (p.Ala1453fs)
|
rs1567782959
|
|
NM_007294.4(BRCA1):c.4356dup (p.Ala1453fs)
|
rs1567782959
|
|
NM_007294.4(BRCA1):c.4357+1G>C
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4357+1del
|
rs397509165
|
|
NM_007294.4(BRCA1):c.4357+2T>G
|
rs80358152
|
|
NM_007294.4(BRCA1):c.4358-2A>G
|
rs1555582723
|
|
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)
|
rs786204267
|
|
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.441+1G>A
|
rs397509172
|
|
NM_007294.4(BRCA1):c.441+1G>C
|
|
|
NM_007294.4(BRCA1):c.441+2T>A
|
rs397509173
|
|
NM_007294.4(BRCA1):c.441+2T>C
|
rs397509173
|
|
NM_007294.4(BRCA1):c.442-22_442-13del
|
rs879254224
|
|
NM_007294.4(BRCA1):c.442-2A>G
|
rs80358155
|
|
NM_007294.4(BRCA1):c.442-7T>A
|
rs886040909
|
|
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter)
|
rs876659614
|
|
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)
|
rs138608489
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484+1del
|
rs397509181
|
|
NM_007294.4(BRCA1):c.4484+5G>A
|
rs886040910
|
|
NM_007294.4(BRCA1):c.4484+5G>C
|
rs886040910
|
|
NM_007294.4(BRCA1):c.4484+5G>T
|
rs886040910
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4485-1G>C
|
rs80358189
|
|
NM_007294.4(BRCA1):c.4485-2A>C
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4485-2A>G
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4485-2A>T
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4511T>G (p.Leu1504Ter)
|
|
|
NM_007294.4(BRCA1):c.4526del (p.Tyr1509fs)
|
rs2154020080
|
|
NM_007294.4(BRCA1):c.4532dup (p.His1511fs)
|
rs1555582009
|
|
NM_007294.4(BRCA1):c.4533_4534insT (p.Ser1512Ter)
|
|
|
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)
|
rs1567778176
|
|
NM_007294.4(BRCA1):c.4568del (p.Pro1523fs)
|
rs1567778075
|
|
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs)
|
rs1567777811
|
|
NM_007294.4(BRCA1):c.4643del (p.Thr1548fs)
|
rs2153993720
|
|
NM_007294.4(BRCA1):c.4645_4646dup (p.Thr1550fs)
|
rs2153992821
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
NM_007294.4(BRCA1):c.4658del (p.Leu1553fs)
|
rs2052588740
|
|
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>G
|
rs879255293
|
|
NM_007294.4(BRCA1):c.4675+3A>T
|
rs80358082
|
|
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
|
NM_007294.4(BRCA1):c.4676-1G>A
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4676-1G>C
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4676-1G>T
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4676-2A>C
|
rs80358096
|
|
NM_007294.4(BRCA1):c.4676-2A>G
|
rs80358096
|
|
NM_007294.4(BRCA1):c.473_547+288del
|
rs2154527022
|
|
NM_007294.4(BRCA1):c.4781del (p.Pro1594fs)
|
rs2052409873
|
|
NM_007294.4(BRCA1):c.4810del (p.Gln1604fs)
|
rs1555580900
|
|
NM_007294.4(BRCA1):c.4814_4815insTATT (p.Leu1605fs)
|
rs2052403348
|
|
NM_007294.4(BRCA1):c.4821del (p.Ala1608fs)
|
rs2153836342
|
|
NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs)
|
rs1555580840
|
|
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs)
|
rs730880287
|
|
NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs)
|
rs1555580773
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4870_4871insA (p.Gly1624fs)
|
rs2052392843
|
|
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)
|
rs1173155015
|
|
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro)
|
rs879254042
|
|
NM_007294.4(BRCA1):c.4955del (p.Met1652fs)
|
rs2052365251
|
|
NM_007294.4(BRCA1):c.4957G>T (p.Val1653Leu)
|
rs80357261
|
|
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)
|
rs1057518639
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro)
|
rs1597830263
|
|
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>G
|
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.4987-16T>G
|
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-1G>C
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-2A>C
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-2A>G
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-3C>A
|
rs397509213
|
|
NM_007294.4(BRCA1):c.4987-3C>G
|
rs397509213
|
|
NM_007294.4(BRCA1):c.4987-5T>A
|
rs397509214
|
|
NM_007294.4(BRCA1):c.4987-5T>C
|
rs397509214
|
|
NM_007294.4(BRCA1):c.4987-6T>A
|
rs2052193063
|
|
NM_007294.4(BRCA1):c.4987-7A>G
|
rs1025136518
|
|
NM_007294.4(BRCA1):c.4988T>G (p.Met1663Arg)
|
rs80357205
|
|
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser)
|
rs1567772408
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.503_505delinsT (p.Lys168fs)
|
|
|
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.5054_5057dup (p.Val1687fs)
|
rs879254050
|
|
NM_007294.4(BRCA1):c.5054_5074+3del
|
|
|
NM_007294.4(BRCA1):c.5056C>G (p.His1686Asp)
|
rs1555579648
|
|
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)
|
rs1555579648
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly)
|
rs1555579627
|
|
NM_007294.4(BRCA1):c.5062G>T (p.Val1688Phe)
|
rs2052159968
|
|
NM_007294.4(BRCA1):c.5066T>A (p.Met1689Lys)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5073A>T (p.Thr1691=)
|
rs80356853
|
|
NM_007294.4(BRCA1):c.5074+1G>T
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1del
|
rs1597825560
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5074+3A>G
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5074+3A>T
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-1G>T
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-2del
|
rs886040913
|
|
NM_007294.4(BRCA1):c.5075-3C>G
|
rs398122690
|
|
NM_007294.4(BRCA1):c.5075-8T>G
|
rs397509221
|
|
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)
|
rs397509222
|
|
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val)
|
rs397509222
|
|
NM_007294.4(BRCA1):c.5076T>A (p.Asp1692Glu)
|
rs2051937547
|
|
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)
|
rs80358345
|
|
NM_007294.4(BRCA1):c.5084_5089del (p.Phe1695_Val1696del)
|
rs2051931458
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs)
|
rs80357710
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
NM_007294.4(BRCA1):c.5090G>T (p.Cys1697Phe)
|
rs397507241
|
|
NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp)
|
rs1597820426
|
|
NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter)
|
rs2051929740
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)
|
rs41293459
|
|
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)
|
rs41293459
|
|
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)
|
rs397509227
|
|
NM_007294.4(BRCA1):c.5099C>T (p.Thr1700Ile)
|
rs2051927197
|
|
NM_007294.4(BRCA1):c.5104A>C (p.Lys1702Gln)
|
rs2051925024
|
|
NM_007294.4(BRCA1):c.5105A>T (p.Lys1702Ile)
|
rs2051924695
|
|
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp)
|
rs863224763
|
|
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)
|
rs876660071
|
|
NM_007294.4(BRCA1):c.5111T>A (p.Phe1704Tyr)
|
rs1555578598
|
|
NM_007294.4(BRCA1):c.5111T>C (p.Phe1704Ser)
|
rs1555578598
|
|
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro)
|
rs397507242
|
|
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg)
|
rs886040864
|
|
NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg)
|
rs886040864
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5117G>T (p.Gly1706Val)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5131A>G (p.Lys1711Glu)
|
rs886040272
|
|
NM_007294.4(BRCA1):c.5133del (p.Lys1711fs)
|
rs730880288
|
|
NM_007294.4(BRCA1):c.5137G>T (p.Val1713Leu)
|
rs1064793309
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe)
|
rs1567769244
|
|
NM_007294.4(BRCA1):c.5141T>C (p.Val1714Ala)
|
rs80357243
|
|
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)
|
rs80357243
|
|
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)
|
rs80357222
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)
|
rs80357094
|
|
NM_007294.4(BRCA1):c.5145_5152+8delinsAAATAG
|
rs1597819841
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
NM_007294.4(BRCA1):c.5152+2T>C
|
rs886040914
|
|
NM_007294.4(BRCA1):c.5152+2dup
|
rs397509231
|
|
NM_007294.4(BRCA1):c.5152+4A>G
|
rs397509232
|
|
NM_007294.4(BRCA1):c.5152+5G>A
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152+5G>C
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152+5G>T
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152+6T>C
|
rs80358074
|
|
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
|
rs1567769155
|
|
NM_007294.4(BRCA1):c.5153-16_5156delinsAATA
|
rs587781526
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-2A>G
|
rs786202545
|
|
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser)
|
rs41293461
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly)
|
rs1247437511
|
|
NM_007294.4(BRCA1):c.5156del (p.Val1719fs)
|
rs1057517590
|
|
NM_007294.4(BRCA1):c.5161del (p.Gln1721fs)
|
rs2051868691
|
|
NM_007294.4(BRCA1):c.5162A>C (p.Gln1721Pro)
|
rs2051867806
|
|
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)
|
rs483353100
|
|
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5186del (p.Leu1729fs)
|
rs398122692
|
|
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys)
|
rs397507244
|
|
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)
|
rs397507244
|
|
NM_007294.4(BRCA1):c.5193+1del
|
rs397509236
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5194-2A>C
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile)
|
rs80356957
|
|
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu)
|
rs869320780
|
|
NM_007294.4(BRCA1):c.5206G>T (p.Val1736Phe)
|
rs377595653
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)
|
rs80358347
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)
|
rs80357450
|
|
NM_007294.4(BRCA1):c.5215G>A (p.Asp1739Asn)
|
rs80357283
|
|
NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His)
|
rs80357283
|
|
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr)
|
rs80357283
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5217T>G (p.Asp1739Glu)
|
rs80357340
|
|
NM_007294.4(BRCA1):c.5219_5224del (p.Val1740_Asn1742delinsAsp)
|
rs1555576941
|
|
NM_007294.4(BRCA1):c.5227G>A (p.Gly1743Arg)
|
rs2051517323
|
|
NM_007294.4(BRCA1):c.5228G>A (p.Gly1743Glu)
|
rs1346819781
|
|
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs)
|
rs483353071
|
|
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp)
|
rs80357146
|
|
NM_007294.4(BRCA1):c.5240A>C (p.Gln1747Pro)
|
rs2051510661
|
|
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly)
|
rs80357123
|
|
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro)
|
rs80357442
|
|
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5257A>G (p.Arg1753Gly)
|
rs1597810544
|
|
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)
|
rs397509246
|
|
NM_007294.4(BRCA1):c.5259A>T (p.Arg1753Ser)
|
rs771577266
|
|
NM_007294.4(BRCA1):c.5277+1_5277+6del
|
rs1060502356
|
|
NM_007294.4(BRCA1):c.5277+1del
|
rs273901754
|
|
NM_007294.4(BRCA1):c.5277+2T>G
|
rs2051494815
|
|
NM_007294.4(BRCA1):c.5278-2A>C
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-2A>G
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-2A>T
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)
|
rs80356905
|
|
NM_007294.4(BRCA1):c.5282T>G (p.Phe1761Cys)
|
rs80356905
|
|
NM_007294.4(BRCA1):c.5288G>T (p.Gly1763Val)
|
rs80357007
|
|
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)
|
rs80357281
|
|
NM_007294.4(BRCA1):c.5292_5299del (p.Glu1765fs)
|
rs2153075593
|
|
NM_007294.4(BRCA1):c.5297T>C (p.Ile1766Thr)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5300G>T (p.Cys1767Phe)
|
rs1597804426
|
|
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)
|
rs886040289
|
|
NM_007294.4(BRCA1):c.5306dup (p.Tyr1769Ter)
|
rs2153070428
|
|
NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter)
|
rs397509258
|
|
NM_007294.4(BRCA1):c.5307_5308insCACCAACATGCCCTTCACCT (p.Gly1770fs)
|
rs2153069688
|
|
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
|
rs863224765
|
|
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)
|
rs587781825
|
|
NM_007294.4(BRCA1):c.5323A>G (p.Met1775Val)
|
rs2051198464
|
|
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.5324T>C (p.Met1775Thr)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.5324_5332+5del
|
|
|
NM_007294.4(BRCA1):c.5327_5328dup (p.Thr1777fs)
|
|
|
NM_007294.4(BRCA1):c.5332+2T>A
|
rs80358182
|
|
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5332_5332+6delinsT
|
rs2153051225
|
|
NM_007294.4(BRCA1):c.5333-1G>A
|
rs80358126
|
|
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>G
|
rs397509264
|
|
NM_007294.4(BRCA1):c.5333-2A>T
|
rs397509264
|
|
NM_007294.4(BRCA1):c.5333-3T>G
|
rs397509265
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
NM_007294.4(BRCA1):c.5339T>A (p.Leu1780Gln)
|
rs80357474
|
|
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg)
|
rs80357474
|
|
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs)
|
rs80357744
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)
|
rs1597801649
|
|
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
|
rs397509271
|
|
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp)
|
rs80357069
|
|
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)
|
rs80357069
|
|
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)
|
rs80357078
|
|
NM_007294.4(BRCA1):c.5366C>A (p.Ala1789Asp)
|
rs2051085308
|
|
NM_007294.4(BRCA1):c.5366C>T (p.Ala1789Val)
|
rs2051085308
|
|
NM_007294.4(BRCA1):c.536_547+166delinsT
|
rs2054281859
|
|
NM_007294.4(BRCA1):c.536_547+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
|
|
|
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.53T>G (p.Met18Arg)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5402_5406+14del
|
rs2051069083
|
|
NM_007294.4(BRCA1):c.5406+1_5406+3del
|
rs397509277
|
|
NM_007294.4(BRCA1):c.5406+2T>G
|
rs2051071309
|
|
NM_007294.4(BRCA1):c.5406+4A>G
|
rs397509279
|
|
NM_007294.4(BRCA1):c.5406+4_5406+7del
|
rs1555575073
|
|
NM_007294.4(BRCA1):c.5406+5G>A
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5406+5G>C
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5406del (p.Gly1803fs)
|
|
|
NM_007294.4(BRCA1):c.5407-10G>A
|
rs273901767
|
|
NM_007294.4(BRCA1):c.5407-1G>C
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5407-2A>G
|
rs80358002
|
|
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala)
|
rs80357149
|
|
NM_007294.4(BRCA1):c.5420T>C (p.Ile1807Thr)
|
rs2050991229
|
|
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe)
|
rs28897698
|
|
NM_007294.4(BRCA1):c.5426T>A (p.Val1809Asp)
|
rs80357216
|
|
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)
|
rs1555574739
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)
|
rs80357040
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs)
|
rs1057517637
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
NM_007294.4(BRCA1):c.5467+1_5467+16del
|
rs2152760370
|
|
NM_007294.4(BRCA1):c.5467+2T>G
|
rs80358009
|
|
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5467G>C (p.Ala1823Pro)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5468-1_5468delinsTT
|
rs1597797251
|
|
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>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+1G>C
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+1G>T
|
rs80358030
|
|
NM_007294.4(BRCA1):c.5476del (p.Gln1826fs)
|
rs2152575457
|
|
NM_007294.4(BRCA1):c.5483del (p.Cys1828fs)
|
rs397509288
|
|
NM_007294.4(BRCA1):c.5488G>T (p.Ala1830Ser)
|
rs80357393
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5497G>T (p.Val1833Leu)
|
|
|
NM_007294.4(BRCA1):c.5498T>G (p.Val1833Gly)
|
|
|
NM_007294.4(BRCA1):c.5502_5503del (p.Glu1836fs)
|
|
|
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5503C>G (p.Arg1835Gly)
|
rs41293465
|
|
NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5510_5511delinsCT (p.Trp1837Ser)
|
rs2152547868
|
|
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu)
|
rs80357107
|
|
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly)
|
rs80357107
|
|
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)
|
rs398122702
|
|
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs)
|
rs1597796956
|
|
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)
|
rs80357299
|
|
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5522G>T (p.Ser1841Ile)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro)
|
rs80357019
|
|
NM_007294.4(BRCA1):c.5528C>A (p.Ala1843Glu)
|
rs730881447
|
|
NM_007294.4(BRCA1):c.5534_5539delinsCCAGTGCCAGGACAGCAGG (p.Tyr1845fs)
|
rs483353102
|
|
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)
|
rs80356873
|
|
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)
|
rs397509295
|
|
NM_007294.4(BRCA1):c.5545G>T (p.Glu1849Ter)
|
rs2050864747
|
|
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)
|
rs886040305
|
|
NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn)
|
rs2050860958
|
|
NM_007294.4(BRCA1):c.5557T>C (p.Tyr1853His)
|
rs2050860958
|
|
NM_007294.4(BRCA1):c.5557_5569del (p.Tyr1853fs)
|
rs2050856829
|
|
NM_007294.4(BRCA1):c.5557del (p.Tyr1853fs)
|
|
|
NM_007294.4(BRCA1):c.5558A>C (p.Tyr1853Ser)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.5558_5561dup (p.Ile1855fs)
|
rs2050859456
|
|
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro)
|
rs80356996
|
|
NM_007294.4(BRCA1):c.5563delinsGGATCC (p.Ile1855fs)
|
rs483353103
|
|
NM_007294.4(BRCA1):c.5564del (p.Ile1855fs)
|
rs1555574355
|
|
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)
|
rs886039675
|
|
NM_007294.4(BRCA1):c.5578del (p.His1860fs)
|
rs397507254
|
|
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)
|
rs397507254
|
|
NM_007294.4(BRCA1):c.56A>C (p.Gln19Pro)
|
rs2055725680
|
|
NM_007294.4(BRCA1):c.593+1G>A
|
rs1567804153
|
|
NM_007294.4(BRCA1):c.593+4del
|
rs1555594036
|
|
NM_007294.4(BRCA1):c.594_597delTGTG
|
rs797045175
|
|
NM_007294.4(BRCA1):c.614T>G (p.Leu205Ter)
|
rs1555593598
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.670+1G>A
|
|
|
NM_007294.4(BRCA1):c.670+295_844del
|
rs2154490085
|
|
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr)
|
rs431825419
|
|
NM_007294.4(BRCA1):c.671-1G>A
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-1G>C
|
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_1018del
|
|
|
NM_007294.4(BRCA1):c.671-2A>C
|
rs80358108
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
NM_007294.4(BRCA1):c.672del (p.Ala225fs)
|
rs2154500888
|
|
NM_007294.4(BRCA1):c.67_72del (p.Glu23_Cys24del)
|
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter)
|
rs1555593310
|
|
NM_007294.4(BRCA1):c.70T>A (p.Cys24Ser)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.715del (p.His239fs)
|
rs879255294
|
|
NM_007294.4(BRCA1):c.71G>C (p.Cys24Ser)
|
rs80357198
|
|
NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu)
|
rs876660096
|
|
NM_007294.4(BRCA1):c.779A>G (p.Lys260Arg)
|
rs2054049431
|
|
NM_007294.4(BRCA1):c.788del (p.Gly263fs)
|
rs886040319
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.80+1G>A
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+5G>A
|
rs80358045
|
|
NM_007294.4(BRCA1):c.80+5G>T
|
rs80358045
|
|
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr)
|
rs1064793052
|
|
NM_007294.4(BRCA1):c.80G>C (p.Cys27Ser)
|
rs1064793052
|
|
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe)
|
rs1064793052
|
|
NM_007294.4(BRCA1):c.81-2A>C
|
rs397509326
|
|
NM_007294.4(BRCA1):c.81-2A>G
|
rs397509326
|
|
NM_007294.4(BRCA1):c.81-6T>A
|
rs80358179
|
|
NM_007294.4(BRCA1):c.838_847del (p.Ala280fs)
|
rs2054036647
|
|
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)
|
rs80357266
|
|
NM_007294.4(BRCA1):c.83del (p.Leu28fs)
|
rs1555599281
|
|
NM_007294.4(BRCA1):c.848dup (p.Leu283fs)
|
rs2054036520
|
|
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)
|
rs730881468
|
|
NM_007294.4(BRCA1):c.915dup (p.Asn306Ter)
|
rs2154485546
|
|
NM_007294.4(BRCA1):c.933del (p.Gly312fs)
|
rs1135401839
|
|
NM_007294.4(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs)
|
rs1555592766
|
|
NM_007294.4(BRCA1):c.953A>T (p.His318Leu)
|
|
|
NM_007294.4(BRCA1):c.964_968del (p.Ala322fs)
|
rs1555592744
|
|
NP_009225.1(BRCA1):p.Trp1837Arg
|
|
|