ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 649
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HGVS dbSNP gnomAD frequency
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

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