Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43094557_43101117delCA16043351BRCA1n.506-1235_1040del
c.442-1235_976del
c.442-1238_850del
c.442-1238_973del
c.364-1235_898del
c.442-1238_784+189del
c.301-1235_646+189del
c.-218-6255_88del
c.442-1235_853del
c.301-1235_835del
c.442-1235_664+189del
c.364-1238_706+189del
c.*356-1235_*984del
c.*316-1235_*850del
c.442-1235_670+1291del
c.*228-1238_*759del
c.442-1235_787+189del
c.165-1238_573del
c.190-1238_409+189del
c.190-1235_412+189del
c.*378-1235_*912del
c.4+24067_5-30604del (n.4+24067_5-30604del)
c.-44+24156_-43-20034del (n.-44+24156_-43-20034del)
c.-99+24156_-99+30716del (n.-99+24156_-99+30716del)
n.581-1238_1112del
n.622-1238_1153del
 ClinVar
17g.43095869_43099880delCA1139655896BRCA1n.509_714del
c.445_650del
c.442_545-1006del
c.442_647del
c.367_572del
c.304_509del
c.-218-5017_-218-1006del (n.-218-5017_-218-1006del)
c.445_548-1006del
c.364_569del
c.*359_*658del
c.*319_*524del
c.*228_*433del
c.165_268-1006del
c.190_293-1006del
c.193_296-1006del
c.*381_*586del
c.4+25305_4+29316del (n.4+25305_4+29316del)
c.-43-25356_-43-21345del (n.-43-25356_-43-21345del)
c.-99+25394_-99+29405del (n.-99+25394_-99+29405del)
n.581_786del
n.622_827del
 ClinVar
17g.43096459_43103875delCA2580094083BRCA1n.505+249_658-535del
c.441+249_594-535del
c.441+249_545-1597del
c.441+249_591-535del
c.363+249_516-535del
c.300+249_453-535del
c.-218-9013_-218-1597del (n.-218-9013_-218-1597del)
c.441+249_548-1597del
c.363+249_513-535del
c.*355+249_*602-535del
c.*315+249_*468-535del
c.*227+249_*377-535del
c.164+249_268-1597del
c.189+249_293-1597del
c.189+249_296-1597del
c.*377+249_*530-535del
c.4+21309_4+28725del (n.4+21309_4+28725del)
c.-44+21398_-43-21936del (n.-44+21398_-43-21936del)
c.-99+21398_-99+28814del (n.-99+21398_-99+28814del)
n.580+249_730-535del
n.621+249_771-535del
 ClinVar
17g.43096738_43100702delCA16043352BRCA1n.506-822_657+506del
c.442-822_593+506del
c.442-825_545-1878del
c.442-825_590+506del
c.364-822_515+506del
c.301-822_452+506del
c.-218-5842_-218-1878del (n.-218-5842_-218-1878del)
c.442-822_548-1878del
c.364-825_512+506del
c.*356-822_*601+506del
c.*316-822_*467+506del
c.*228-825_*376+506del
c.165-825_268-1878del
c.190-825_293-1878del
c.190-822_296-1878del
c.*378-822_*529+506del
c.4+24480_4+28444del (n.4+24480_4+28444del)
c.-44+24569_-43-22217del (n.-44+24569_-43-22217del)
c.-99+24569_-99+28533del (n.-99+24569_-99+28533del)
n.581-825_729+506del
n.622-825_770+506del
 ClinVar
17g.43097246_43099882delCA2580061393BRCA1n.506_657del
c.442_593del
c.442-3_545-2384del
c.442-3_590del
c.364_515del
c.301_452del
c.-218-5020_-218-2384del (n.-218-5020_-218-2384del)
c.442_548-2384del
c.364-3_512del
c.*356_*601del
c.*316_*467del
c.*228-3_*376del
c.165-3_268-2384del
c.190-3_293-2384del
c.190_296-2384del
c.*378_*529del
c.4+25302_4+27938del (n.4+25302_4+27938del)
c.-43-25359_-43-22723del (n.-43-25359_-43-22723del)
c.-99+25391_-99+28027del (n.-99+25391_-99+28027del)
n.581-3_729del
n.622-3_770del
 ClinVar
17g.43099071_43102393dupCA2580094144BRCA1n.505+1729_611+704dup
c.441+1729_547+704dup
c.441+1729_544+704dup
c.363+1729_469+704dup
c.300+1729_406+704dup
c.-218-7533_-218-4211dup (n.-218-7533_-218-4211dup)
c.363+1729_466+704dup
c.*355+1729_*461+704dup
c.*315+1729_*421+704dup
c.*227+1729_*330+704dup
c.164+1729_267+704dup
c.189+1729_292+704dup
c.189+1729_295+704dup
c.*377+1729_*483+704dup
c.4+22789_4+26111dup (n.4+22789_4+26111dup)
c.-44+22878_-43-24550dup (n.-44+22878_-43-24550dup)
c.-99+22878_-99+26200dup (n.-99+22878_-99+26200dup)
n.580+1729_683+704dup
n.621+1729_724+704dup
 ClinVar
17g.43099488_43099850delCA2499224596BRCA1n.537_611+288del
c.473_547+288del
c.470_544+288del
c.395_469+288del
c.332_406+288del
c.-218-4989_-218-4627del (n.-218-4989_-218-4627del)
c.392_466+288del
c.*387_*461+288del
c.*347_*421+288del
c.*256_*330+288del
c.193_267+288del
c.218_292+288del
c.221_295+288del
c.*409_*483+288del
c.4+25333_4+25695del (n.4+25333_4+25695del)
c.-43-25328_-43-24966del (n.-43-25328_-43-24966del)
c.-99+25422_-99+25784del (n.-99+25422_-99+25784del)
n.609_683+288del
n.650_724+288del
 ClinVar dbSNP
17g.43099552_43101009delCA10602602BRCA1n.506-1129_611+223del
c.442-1129_547+223del
c.442-1132_544+223del
c.364-1129_469+223del
c.301-1129_406+223del
c.-218-6149_-218-4692del (n.-218-6149_-218-4692del)
c.364-1132_466+223del
c.*356-1129_*461+223del
c.*316-1129_*421+223del
c.*228-1132_*330+223del
c.165-1132_267+223del
c.190-1132_292+223del
c.190-1129_295+223del
c.*378-1129_*483+223del
c.4+24173_4+25630del (n.4+24173_4+25630del)
c.-44+24262_-43-25031del (n.-44+24262_-43-25031del)
c.-99+24262_-99+25719del (n.-99+24262_-99+25719del)
n.581-1132_683+223del
n.622-1132_724+223del
 ClinVar
17g.43099566_43099786delinsACCATGCCTGGCCTCTTTTGCTCCCTTTTTAAAGTAAGATTCTTCAAGGTGACA2582342178BRCA1n.600_611+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.536_547+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.533_544+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.458_469+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.395_406+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.-218-4926_-218-4706delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT (n.-218-4926_-218-4706delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT)
c.455_466+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.*450_*461+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.*410_*421+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.*319_*330+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.256_267+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.281_292+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.284_295+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.*472_*483+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
c.4+25396_4+25616delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT (n.4+25396_4+25616delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT)
c.-43-25265_-43-25045delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT (n.-43-25265_-43-25045delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT)
c.-99+25485_-99+25705delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT (n.-99+25485_-99+25705delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT)
n.672_683+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
n.713_724+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
 ClinVar
17g.43099608_43099786delinsGGGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGTCA2260787576BRCA1n.600_611+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.536_547+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.533_544+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.458_469+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.395_406+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.-218-4926_-218-4748delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC (n.-218-4926_-218-4748delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC)
c.455_466+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.*450_*461+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.*410_*421+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.*319_*330+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.256_267+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.281_292+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.284_295+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.*472_*483+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
c.4+25396_4+25574delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC (n.4+25396_4+25574delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC)
c.-43-25265_-43-25087delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC (n.-43-25265_-43-25087delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC)
c.-99+25485_-99+25663delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC (n.-99+25485_-99+25663delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC)
n.672_683+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
n.713_724+167delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCCC
17g.43099609_43099786delinsACA913188969BRCA1n.600_611+166delinsT
c.536_547+166delinsT
c.533_544+166delinsT
c.458_469+166delinsT
c.395_406+166delinsT
c.-218-4926_-218-4749delinsT (n.-218-4926_-218-4749delinsT)
c.455_466+166delinsT
c.*450_*461+166delinsT
c.*410_*421+166delinsT
c.*319_*330+166delinsT
c.256_267+166delinsT
c.281_292+166delinsT
c.284_295+166delinsT
c.*472_*483+166delinsT
c.4+25396_4+25573delinsT (n.4+25396_4+25573delinsT)
c.-43-25265_-43-25088delinsT (n.-43-25265_-43-25088delinsT)
c.-99+25485_-99+25662delinsT (n.-99+25485_-99+25662delinsT)
n.672_683+166delinsT
n.713_724+166delinsT
 ClinVar dbSNP
17g.43099609_43099786delinsGGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGTCA2260787577BRCA1n.600_611+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.536_547+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.533_544+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.458_469+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.395_406+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.-218-4926_-218-4749delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC (n.-218-4926_-218-4749delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC)
c.455_466+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.*450_*461+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.*410_*421+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.*319_*330+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.256_267+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.281_292+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.284_295+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.*472_*483+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
c.4+25396_4+25573delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC (n.4+25396_4+25573delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC)
c.-43-25265_-43-25088delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC (n.-43-25265_-43-25088delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC)
c.-99+25485_-99+25662delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC (n.-99+25485_-99+25662delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC)
n.672_683+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
n.713_724+166delinsACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAATAATAATTGCTGGATTCCTTATCTTATAGTTTTGCCAAAAATCTTGGTCATAATTTGTATTTGTGGTAGGCAGCTTTGGGAAGTGAATTTTATGAGCCCTATGGTGAGTTATAAAAAATGTAAAAGACGCAGTTCC
17g.43099610_43099786delCA658798863BRCA1n.600_611+165del
c.536_547+165del
c.533_544+165del
c.458_469+165del
c.395_406+165del
c.-218-4926_-218-4750del (n.-218-4926_-218-4750del)
c.455_466+165del
c.*450_*461+165del
c.*410_*421+165del
c.*319_*330+165del
c.256_267+165del
c.281_292+165del
c.284_295+165del
c.*472_*483+165del
c.4+25396_4+25572del (n.4+25396_4+25572del)
c.-43-25265_-43-25089del (n.-43-25265_-43-25089del)
c.-99+25485_-99+25661del (n.-99+25485_-99+25661del)
n.672_683+165del
n.713_724+165del
 ClinVar dbSNP
17g.43099771_43099808delinsTTACCCAATTCAATGTAGACAGACGTCTTTTGAGGTTGCA2260787656BRCA1n.578_611+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.514_547+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.511_544+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.436_469+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.373_406+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.-218-4948_-218-4911delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA (n.-218-4948_-218-4911delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA)
c.433_466+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.*428_*461+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
n.754_791delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.*388_*421+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.*297_*330+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.234_267+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.259_292+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.262_295+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.*450_*483+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
c.4+25374_4+25411delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA (n.4+25374_4+25411delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA)
c.-43-25287_-43-25250delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA (n.-43-25287_-43-25250delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA)
c.-99+25463_-99+25500delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA (n.-99+25463_-99+25500delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA)
n.650_683+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
n.691_724+4delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTAA
17g.43099774_43099810delCA919844556BRCA1n.578_611+3del
c.514_547+3del
c.511_544+3del
c.436_469+3del
c.373_406+3del
c.-218-4948_-218-4912del (n.-218-4948_-218-4912del)
c.433_466+3del
c.*428_*461+3del
n.754_790del
c.*388_*421+3del
c.*297_*330+3del
c.234_267+3del
c.259_292+3del
c.262_295+3del
c.*450_*483+3del
c.4+25374_4+25410del (n.4+25374_4+25410del)
c.-43-25287_-43-25251del (n.-43-25287_-43-25251del)
c.-99+25463_-99+25499del (n.-99+25463_-99+25499del)
n.650_683+3del
n.691_724+3del
 dbSNP
17g.43099773_43099881delCA2499224599BRCA1n.506-1_611+2del
c.442-1_547+2del
c.442-4_544+2del
c.364-1_469+2del
c.301-1_406+2del
c.-218-5021_-218-4913del (n.-218-5021_-218-4913del)
c.364-4_466+2del
c.*356-1_*461+2del
n.685-4_789del
c.*316-1_*421+2del
c.*228-4_*330+2del
c.165-4_267+2del
c.190-4_292+2del
c.190-1_295+2del
c.*378-1_*483+2del
c.4+25301_4+25409del (n.4+25301_4+25409del)
c.-43-25360_-43-25252del (n.-43-25360_-43-25252del)
c.-99+25390_-99+25498del (n.-99+25390_-99+25498del)
n.581-4_683+2del
n.622-4_724+2del
 ClinVar dbSNP
17g.43099774_43099808delinsCCCAATTCAATGTAGACAGACGTCTTTTGAGGTTGCA2260787661BRCA1n.578_611+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.511_544+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.436_469+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.373_406+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.-218-4948_-218-4914delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG (n.-218-4948_-218-4914delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG)
c.433_466+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.*428_*461+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
n.754_788delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.*388_*421+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.*297_*330+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.234_267+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.259_292+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.262_295+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.*450_*483+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
c.4+25374_4+25408delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG (n.4+25374_4+25408delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG)
c.-43-25287_-43-25253delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG (n.-43-25287_-43-25253delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG)
c.-99+25463_-99+25497delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG (n.-99+25463_-99+25497delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG)
n.650_683+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
n.691_724+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG
17g.43099775_43099808delCA919844557BRCA1n.578_611del
c.514_547del (p.Gln172AspfsTer?)
c.511_544del (p.Gln171LeufsTer10)
c.511_544del (p.Gln171AspfsTer?)
c.436_469del (p.Gln146AspfsTer?)
c.373_406del (p.Gln125AspfsTer?)
c.-218-4948_-218-4915del (n.-218-4948_-218-4915del)
c.514_547del (p.Gln172LeufsTer10)
c.433_466del (p.Gln145AspfsTer?)
c.*428_*461del (n.*428_*461del)
n.754_787del
c.*388_*421del (n.*388_*421del)
c.*297_*330del (n.*297_*330del)
c.234_267del
c.259_292del (p.Gln87LeufsTer10)
c.262_295del (p.Gln88LeufsTer10)
c.*450_*483del (n.*450_*483del)
c.4+25374_4+25407del (n.4+25374_4+25407del)
c.-43-25287_-43-25254del (n.-43-25287_-43-25254del)
c.-99+25463_-99+25496del (n.-99+25463_-99+25496del)
n.650_683del
n.691_724del
 dbSNP
17g.43099776_43099881delCA2695226015BRCA1n.506_611del
c.442_547del
c.442-3_544del
c.364_469del
c.301_406del
c.-218-5020_-218-4915del (n.-218-5020_-218-4915del)
c.364-3_466del
c.*356_*461del
n.685-3_787del
c.*316_*421del
c.*228-3_*330del
c.165-3_267del
c.190-3_292del
c.190_295del
c.*378_*483del
c.4+25302_4+25407del (n.4+25302_4+25407del)
c.-43-25359_-43-25254del (n.-43-25359_-43-25254del)
c.-99+25391_-99+25496del (n.-99+25391_-99+25496del)
n.581-3_683del
n.622-3_724del
17g.43099775_43100832dupCA10602604BRCA1n.506-952_611dup
c.442-952_547dup
c.442-955_544dup
c.364-952_469dup
c.301-952_406dup
c.-218-5972_-218-4915dup (n.-218-5972_-218-4915dup)
c.364-955_466dup
c.*356-952_*461dup
n.685-955_787dup
c.*316-952_*421dup
c.*228-955_*330dup
c.165-955_267dup
c.190-955_292dup
c.190-952_295dup
c.*378-952_*483dup
c.4+24350_4+25407dup (n.4+24350_4+25407dup)
c.-44+24439_-43-25254dup (n.-44+24439_-43-25254dup)
c.-99+24439_-99+25496dup (n.-99+24439_-99+25496dup)
n.581-955_683dup
n.622-955_724dup
 ClinVar
17g.43099778dupCA2499224600BRCA1n.609dup
c.545dup (p.Leu182PhefsTer4)
c.542dup (p.Leu181PhefsTer5)
c.542dup (p.Leu181PhefsTer4)
c.467dup (p.Leu156PhefsTer4)
c.404dup (p.Leu135PhefsTer4)
c.-218-4917dup (n.-218-4917dup)
c.545dup (p.Leu182PhefsTer5)
c.464dup (p.Leu155PhefsTer4)
c.*459dup (n.*459dup)
n.785dup
c.*419dup (n.*419dup)
c.*328dup (n.*328dup)
c.265dup
c.290dup (p.Leu97PhefsTer5)
c.293dup (p.Leu98PhefsTer5)
c.*481dup (n.*481dup)
c.4+25405dup (n.4+25405dup)
c.-43-25256dup (n.-43-25256dup)
c.-99+25494dup (n.-99+25494dup)
n.681dup
n.722dup
17g.43099778A=CA2260787664BRCA1n.608T=
c.544T= (p.Leu182=)
c.541T= (p.Leu181=)
c.466T= (p.Leu156=)
c.403T= (p.Leu135=)
c.-218-4918T= (n.-218-4918T=)
c.463T= (p.Leu155=)
c.*458T= (n.*458T=)
n.784T=
c.*418T= (n.*418T=)
c.*327T= (n.*327T=)
c.264T=
c.289T= (p.Leu97=)
c.292T= (p.Leu98=)
c.*480T= (n.*480T=)
c.4+25404T= (n.4+25404T=)
c.-43-25257T= (n.-43-25257T=)
c.-99+25493T= (n.-99+25493T=)
n.680T=
n.721T=
17g.43099778A>CCA10601051BRCA1n.608T>G
c.544T>G (p.Leu182Val)
c.541T>G (p.Leu181Val)
c.466T>G (p.Leu156Val)
c.403T>G (p.Leu135Val)
c.-218-4918T>G (n.-218-4918T>G)
c.463T>G (p.Leu155Val)
c.*458T>G (n.*458T>G)
n.784T>G
c.*418T>G (n.*418T>G)
c.*327T>G (n.*327T>G)
c.264T>G
c.289T>G (p.Leu97Val)
c.292T>G (p.Leu98Val)
c.*480T>G (n.*480T>G)
c.4+25404T>G (n.4+25404T>G)
c.-43-25257T>G (n.-43-25257T>G)
c.-99+25493T>G (n.-99+25493T>G)
n.680T>G
n.721T>G
17g.43099778A>GCA500124340BRCA1n.608T>C
c.544T>C (p.Leu182=)
c.541T>C (p.Leu181=)
c.466T>C (p.Leu156=)
c.403T>C (p.Leu135=)
c.-218-4918T>C (n.-218-4918T>C)
c.463T>C (p.Leu155=)
c.*458T>C (n.*458T>C)
n.784T>C
c.*418T>C (n.*418T>C)
c.*327T>C (n.*327T>C)
c.264T>C
c.289T>C (p.Leu97=)
c.292T>C (p.Leu98=)
c.*480T>C (n.*480T>C)
c.4+25404T>C (n.4+25404T>C)
c.-43-25257T>C (n.-43-25257T>C)
c.-99+25493T>C (n.-99+25493T>C)
n.680T>C
n.721T>C
 gnomAD v4
17g.43099778A>TCA10601052BRCA1n.608T>A
c.544T>A (p.Leu182Met)
c.541T>A (p.Leu181Met)
c.466T>A (p.Leu156Met)
c.403T>A (p.Leu135Met)
c.-218-4918T>A (n.-218-4918T>A)
c.463T>A (p.Leu155Met)
c.*458T>A (n.*458T>A)
n.784T>A
c.*418T>A (n.*418T>A)
c.*327T>A (n.*327T>A)
c.264T>A
c.289T>A (p.Leu97Met)
c.292T>A (p.Leu98Met)
c.*480T>A (n.*480T>A)
c.4+25404T>A (n.4+25404T>A)
c.-43-25257T>A (n.-43-25257T>A)
c.-99+25493T>A (n.-99+25493T>A)
n.680T>A
n.721T>A
 ClinVar dbSNP
17g.43099779T>ACA10601053BRCA1n.607A>T
c.543A>T (p.Glu181Asp)
c.540A>T (p.Glu180Asp)
c.465A>T (p.Glu155Asp)
c.402A>T (p.Glu134Asp)
c.-218-4919A>T (n.-218-4919A>T)
c.462A>T (p.Glu154Asp)
c.*457A>T (n.*457A>T)
n.783A>T
c.*417A>T (n.*417A>T)
c.*326A>T (n.*326A>T)
c.263A>T
c.288A>T (p.Glu96Asp)
c.291A>T (p.Glu97Asp)
c.*479A>T (n.*479A>T)
c.4+25403A>T (n.4+25403A>T)
c.-43-25258A>T (n.-43-25258A>T)
c.-99+25492A>T (n.-99+25492A>T)
n.679A>T
n.720A>T
 dbSNP
17g.43099779T>CCA003597BRCA1n.607A>G
c.543A>G (p.Glu181=)
c.540A>G (p.Glu180=)
c.465A>G (p.Glu155=)
c.402A>G (p.Glu134=)
c.-218-4919A>G (n.-218-4919A>G)
c.462A>G (p.Glu154=)
c.*457A>G (n.*457A>G)
n.783A>G
c.*417A>G (n.*417A>G)
c.*326A>G (n.*326A>G)
c.263A>G
c.288A>G (p.Glu96=)
c.291A>G (p.Glu97=)
c.*479A>G (n.*479A>G)
c.4+25403A>G (n.4+25403A>G)
c.-43-25258A>G (n.-43-25258A>G)
c.-99+25492A>G (n.-99+25492A>G)
n.679A>G
n.720A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43099779T>GCA10601054BRCA1n.607A>C
c.543A>C (p.Glu181Asp)
c.540A>C (p.Glu180Asp)
c.465A>C (p.Glu155Asp)
c.402A>C (p.Glu134Asp)
c.-218-4919A>C (n.-218-4919A>C)
c.462A>C (p.Glu154Asp)
c.*457A>C (n.*457A>C)
n.783A>C
c.*417A>C (n.*417A>C)
c.*326A>C (n.*326A>C)
c.263A>C
c.288A>C (p.Glu96Asp)
c.291A>C (p.Glu97Asp)
c.*479A>C (n.*479A>C)
c.4+25403A>C (n.4+25403A>C)
c.-43-25258A>C (n.-43-25258A>C)
c.-99+25492A>C (n.-99+25492A>C)
n.679A>C
n.720A>C
17g.43099779T=CA2260787665BRCA1n.607A=
c.543A= (p.Glu181=)
c.540A= (p.Glu180=)
c.465A= (p.Glu155=)
c.402A= (p.Glu134=)
c.-218-4919A= (n.-218-4919A=)
c.462A= (p.Glu154=)
c.*457A= (n.*457A=)
n.783A=
c.*417A= (n.*417A=)
c.*326A= (n.*326A=)
c.263A=
c.288A= (p.Glu96=)
c.291A= (p.Glu97=)
c.*479A= (n.*479A=)
c.4+25403A= (n.4+25403A=)
c.-43-25258A= (n.-43-25258A=)
c.-99+25492A= (n.-99+25492A=)
n.679A=
n.720A=
17g.43099780delCA2580094152BRCA1n.607del
c.543del (p.Glu181AspfsTer?)
c.540del (p.Glu180AspfsTer12)
c.540del (p.Glu180AspfsTer?)
c.465del (p.Glu155AspfsTer?)
c.402del (p.Glu134AspfsTer?)
c.-218-4919del (n.-218-4919del)
c.543del (p.Glu181AspfsTer12)
c.462del (p.Glu154AspfsTer?)
c.*457del (n.*457del)
n.783del
c.*417del (n.*417del)
c.*326del (n.*326del)
c.263del
c.288del (p.Glu96AspfsTer12)
c.291del (p.Glu97AspfsTer12)
c.*479del (n.*479del)
c.4+25403del (n.4+25403del)
c.-43-25258del (n.-43-25258del)
c.-99+25492del (n.-99+25492del)
n.679del
n.720del
 ClinVar
17g.43099780T>ACA10601055BRCA1n.606A>T
c.542A>T (p.Glu181Val)
c.539A>T (p.Glu180Val)
c.464A>T (p.Glu155Val)
c.401A>T (p.Glu134Val)
c.-218-4920A>T (n.-218-4920A>T)
c.461A>T (p.Glu154Val)
c.*456A>T (n.*456A>T)
n.782A>T
c.*416A>T (n.*416A>T)
c.*325A>T (n.*325A>T)
c.262A>T
c.287A>T (p.Glu96Val)
c.290A>T (p.Glu97Val)
c.*478A>T (n.*478A>T)
c.4+25402A>T (n.4+25402A>T)
c.-43-25259A>T (n.-43-25259A>T)
c.-99+25491A>T (n.-99+25491A>T)
n.678A>T
n.719A>T
 dbSNP
17g.43099780T>CCA10601056BRCA1n.606A>G
c.542A>G (p.Glu181Gly)
c.539A>G (p.Glu180Gly)
c.464A>G (p.Glu155Gly)
c.401A>G (p.Glu134Gly)
c.-218-4920A>G (n.-218-4920A>G)
c.461A>G (p.Glu154Gly)
c.*456A>G (n.*456A>G)
n.782A>G
c.*416A>G (n.*416A>G)
c.*325A>G (n.*325A>G)
c.262A>G
c.287A>G (p.Glu96Gly)
c.290A>G (p.Glu97Gly)
c.*478A>G (n.*478A>G)
c.4+25402A>G (n.4+25402A>G)
c.-43-25259A>G (n.-43-25259A>G)
c.-99+25491A>G (n.-99+25491A>G)
n.678A>G
n.719A>G
17g.43099780T>GCA10601057BRCA1n.606A>C
c.542A>C (p.Glu181Ala)
c.539A>C (p.Glu180Ala)
c.464A>C (p.Glu155Ala)
c.401A>C (p.Glu134Ala)
c.-218-4920A>C (n.-218-4920A>C)
c.461A>C (p.Glu154Ala)
c.*456A>C (n.*456A>C)
n.782A>C
c.*416A>C (n.*416A>C)
c.*325A>C (n.*325A>C)
c.262A>C
c.287A>C (p.Glu96Ala)
c.290A>C (p.Glu97Ala)
c.*478A>C (n.*478A>C)
c.4+25402A>C (n.4+25402A>C)
c.-43-25259A>C (n.-43-25259A>C)
c.-99+25491A>C (n.-99+25491A>C)
n.678A>C
n.719A>C
17g.43099781C>ACA10601058BRCA1n.605G>T
c.541G>T (p.Glu181Ter)
c.538G>T (p.Glu180Ter)
c.463G>T (p.Glu155Ter)
c.400G>T (p.Glu134Ter)
c.-218-4921G>T (n.-218-4921G>T)
c.460G>T (p.Glu154Ter)
c.*455G>T (n.*455G>T)
n.781G>T
c.*415G>T (n.*415G>T)
c.*324G>T (n.*324G>T)
c.261G>T
c.286G>T (p.Glu96Ter)
c.289G>T (p.Glu97Ter)
c.*477G>T (n.*477G>T)
c.4+25401G>T (n.4+25401G>T)
c.-43-25260G>T (n.-43-25260G>T)
c.-99+25490G>T (n.-99+25490G>T)
n.677G>T
n.718G>T
 ClinVar dbSNP
17g.43099781C=CA2260787666BRCA1n.605G=
c.541G= (p.Glu181=)
c.538G= (p.Glu180=)
c.463G= (p.Glu155=)
c.400G= (p.Glu134=)
c.-218-4921G= (n.-218-4921G=)
c.460G= (p.Glu154=)
c.*455G= (n.*455G=)
n.781G=
c.*415G= (n.*415G=)
c.*324G= (n.*324G=)
c.261G=
c.286G= (p.Glu96=)
c.289G= (p.Glu97=)
c.*477G= (n.*477G=)
c.4+25401G= (n.4+25401G=)
c.-43-25260G= (n.-43-25260G=)
c.-99+25490G= (n.-99+25490G=)
n.677G=
n.718G=
17g.43099781C>GCA10601059BRCA1n.605G>C
c.541G>C (p.Glu181Gln)
c.538G>C (p.Glu180Gln)
c.463G>C (p.Glu155Gln)
c.400G>C (p.Glu134Gln)
c.-218-4921G>C (n.-218-4921G>C)
c.460G>C (p.Glu154Gln)
c.*455G>C (n.*455G>C)
n.781G>C
c.*415G>C (n.*415G>C)
c.*324G>C (n.*324G>C)
c.261G>C
c.286G>C (p.Glu96Gln)
c.289G>C (p.Glu97Gln)
c.*477G>C (n.*477G>C)
c.4+25401G>C (n.4+25401G>C)
c.-43-25260G>C (n.-43-25260G>C)
c.-99+25490G>C (n.-99+25490G>C)
n.677G>C
n.718G>C
 dbSNP
17g.43099781C>TCA10601060BRCA1n.605G>A
c.541G>A (p.Glu181Lys)
c.538G>A (p.Glu180Lys)
c.463G>A (p.Glu155Lys)
c.400G>A (p.Glu134Lys)
c.-218-4921G>A (n.-218-4921G>A)
c.460G>A (p.Glu154Lys)
c.*455G>A (n.*455G>A)
n.781G>A
c.*415G>A (n.*415G>A)
c.*324G>A (n.*324G>A)
c.261G>A
c.286G>A (p.Glu96Lys)
c.289G>A (p.Glu97Lys)
c.*477G>A (n.*477G>A)
c.4+25401G>A (n.4+25401G>A)
c.-43-25260G>A (n.-43-25260G>A)
c.-99+25490G>A (n.-99+25490G>A)
n.677G>A
n.718G>A
 dbSNP
17g.43099782A>CCA10601061BRCA1n.604T>G
c.540T>G (p.Ile180Met)
c.537T>G (p.Ile179Met)
c.462T>G (p.Ile154Met)
c.399T>G (p.Ile133Met)
c.-218-4922T>G (n.-218-4922T>G)
c.459T>G (p.Ile153Met)
c.*454T>G (n.*454T>G)
n.780T>G
c.*414T>G (n.*414T>G)
c.*323T>G (n.*323T>G)
c.260T>G
c.285T>G (p.Ile95Met)
c.288T>G (p.Ile96Met)
c.*476T>G (n.*476T>G)
c.4+25400T>G (n.4+25400T>G)
c.-43-25261T>G (n.-43-25261T>G)
c.-99+25489T>G (n.-99+25489T>G)
n.676T>G
n.717T>G
17g.43099782A>GCA500124350BRCA1n.604T>C
c.540T>C (p.Ile180=)
c.537T>C (p.Ile179=)
c.462T>C (p.Ile154=)
c.399T>C (p.Ile133=)
c.-218-4922T>C (n.-218-4922T>C)
c.459T>C (p.Ile153=)
c.*454T>C (n.*454T>C)
n.780T>C
c.*414T>C (n.*414T>C)
c.*323T>C (n.*323T>C)
c.260T>C
c.285T>C (p.Ile95=)
c.288T>C (p.Ile96=)
c.*476T>C (n.*476T>C)
c.4+25400T>C (n.4+25400T>C)
c.-43-25261T>C (n.-43-25261T>C)
c.-99+25489T>C (n.-99+25489T>C)
n.676T>C
n.717T>C
 ClinVar dbSNP gnomAD v4
17g.43099782A>TCA500124351BRCA1n.604T>A
c.540T>A (p.Ile180=)
c.537T>A (p.Ile179=)
c.462T>A (p.Ile154=)
c.399T>A (p.Ile133=)
c.-218-4922T>A (n.-218-4922T>A)
c.459T>A (p.Ile153=)
c.*454T>A (n.*454T>A)
n.780T>A
c.*414T>A (n.*414T>A)
c.*323T>A (n.*323T>A)
c.260T>A
c.285T>A (p.Ile95=)
c.288T>A (p.Ile96=)
c.*476T>A (n.*476T>A)
c.4+25400T>A (n.4+25400T>A)
c.-43-25261T>A (n.-43-25261T>A)
c.-99+25489T>A (n.-99+25489T>A)
n.676T>A
n.717T>A
 dbSNP
17g.43099783A=CA2260787667BRCA1n.603T=
c.539T= (p.Ile180=)
c.536T= (p.Ile179=)
c.461T= (p.Ile154=)
c.398T= (p.Ile133=)
c.-218-4923T= (n.-218-4923T=)
c.458T= (p.Ile153=)
c.*453T= (n.*453T=)
n.779T=
c.*413T= (n.*413T=)
c.*322T= (n.*322T=)
c.259T=
c.284T= (p.Ile95=)
c.287T= (p.Ile96=)
c.*475T= (n.*475T=)
c.4+25399T= (n.4+25399T=)
c.-43-25262T= (n.-43-25262T=)
c.-99+25488T= (n.-99+25488T=)
n.675T=
n.716T=
17g.43099783A>CCA10601062BRCA1n.603T>G
c.539T>G (p.Ile180Ser)
c.536T>G (p.Ile179Ser)
c.461T>G (p.Ile154Ser)
c.398T>G (p.Ile133Ser)
c.-218-4923T>G (n.-218-4923T>G)
c.458T>G (p.Ile153Ser)
c.*453T>G (n.*453T>G)
n.779T>G
c.*413T>G (n.*413T>G)
c.*322T>G (n.*322T>G)
c.259T>G
c.284T>G (p.Ile95Ser)
c.287T>G (p.Ile96Ser)
c.*475T>G (n.*475T>G)
c.4+25399T>G (n.4+25399T>G)
c.-43-25262T>G (n.-43-25262T>G)
c.-99+25488T>G (n.-99+25488T>G)
n.675T>G
n.716T>G
17g.43099783A>GCA10601063BRCA1n.603T>C
c.539T>C (p.Ile180Thr)
c.536T>C (p.Ile179Thr)
c.461T>C (p.Ile154Thr)
c.398T>C (p.Ile133Thr)
c.-218-4923T>C (n.-218-4923T>C)
c.458T>C (p.Ile153Thr)
c.*453T>C (n.*453T>C)
n.779T>C
c.*413T>C (n.*413T>C)
c.*322T>C (n.*322T>C)
c.259T>C
c.284T>C (p.Ile95Thr)
c.287T>C (p.Ile96Thr)
c.*475T>C (n.*475T>C)
c.4+25399T>C (n.4+25399T>C)
c.-43-25262T>C (n.-43-25262T>C)
c.-99+25488T>C (n.-99+25488T>C)
n.675T>C
n.716T>C
 ClinVar dbSNP gnomAD v4
17g.43099783A>TCA10601064BRCA1n.603T>A
c.539T>A (p.Ile180Asn)
c.536T>A (p.Ile179Asn)
c.461T>A (p.Ile154Asn)
c.398T>A (p.Ile133Asn)
c.-218-4923T>A (n.-218-4923T>A)
c.458T>A (p.Ile153Asn)
c.*453T>A (n.*453T>A)
n.779T>A
c.*413T>A (n.*413T>A)
c.*322T>A (n.*322T>A)
c.259T>A
c.284T>A (p.Ile95Asn)
c.287T>A (p.Ile96Asn)
c.*475T>A (n.*475T>A)
c.4+25399T>A (n.4+25399T>A)
c.-43-25262T>A (n.-43-25262T>A)
c.-99+25488T>A (n.-99+25488T>A)
n.675T>A
n.716T>A
 dbSNP
17g.43099784T>ACA10601065BRCA1n.602A>T
c.538A>T (p.Ile180Phe)
c.535A>T (p.Ile179Phe)
c.460A>T (p.Ile154Phe)
c.397A>T (p.Ile133Phe)
c.-218-4924A>T (n.-218-4924A>T)
c.457A>T (p.Ile153Phe)
c.*452A>T (n.*452A>T)
n.778A>T
c.*412A>T (n.*412A>T)
c.*321A>T (n.*321A>T)
c.258A>T
c.283A>T (p.Ile95Phe)
c.286A>T (p.Ile96Phe)
c.*474A>T (n.*474A>T)
c.4+25398A>T (n.4+25398A>T)
c.-43-25263A>T (n.-43-25263A>T)
c.-99+25487A>T (n.-99+25487A>T)
n.674A>T
n.715A>T
 dbSNP
17g.43099784T>CCA10601066BRCA1n.602A>G
c.538A>G (p.Ile180Val)
c.535A>G (p.Ile179Val)
c.460A>G (p.Ile154Val)
c.397A>G (p.Ile133Val)
c.-218-4924A>G (n.-218-4924A>G)
c.457A>G (p.Ile153Val)
c.*452A>G (n.*452A>G)
n.778A>G
c.*412A>G (n.*412A>G)
c.*321A>G (n.*321A>G)
c.258A>G
c.283A>G (p.Ile95Val)
c.286A>G (p.Ile96Val)
c.*474A>G (n.*474A>G)
c.4+25398A>G (n.4+25398A>G)
c.-43-25263A>G (n.-43-25263A>G)
c.-99+25487A>G (n.-99+25487A>G)
n.674A>G
n.715A>G
 ClinVar dbSNP
17g.43099784T>GCA10601067BRCA1n.602A>C
c.538A>C (p.Ile180Leu)
c.535A>C (p.Ile179Leu)
c.460A>C (p.Ile154Leu)
c.397A>C (p.Ile133Leu)
c.-218-4924A>C (n.-218-4924A>C)
c.457A>C (p.Ile153Leu)
c.*452A>C (n.*452A>C)
n.778A>C
c.*412A>C (n.*412A>C)
c.*321A>C (n.*321A>C)
c.258A>C
c.283A>C (p.Ile95Leu)
c.286A>C (p.Ile96Leu)
c.*474A>C (n.*474A>C)
c.4+25398A>C (n.4+25398A>C)
c.-43-25263A>C (n.-43-25263A>C)
c.-99+25487A>C (n.-99+25487A>C)
n.674A>C
n.715A>C
 ClinVar dbSNP gnomAD v4
17g.43099784T=CA2260787668BRCA1n.602A=
c.538A= (p.Ile180=)
c.535A= (p.Ile179=)
c.460A= (p.Ile154=)
c.397A= (p.Ile133=)
c.-218-4924A= (n.-218-4924A=)
c.457A= (p.Ile153=)
c.*452A= (n.*452A=)
n.778A=
c.*412A= (n.*412A=)
c.*321A= (n.*321A=)
c.258A=
c.283A= (p.Ile95=)
c.286A= (p.Ile96=)
c.*474A= (n.*474A=)
c.4+25398A= (n.4+25398A=)
c.-43-25263A= (n.-43-25263A=)
c.-99+25487A= (n.-99+25487A=)
n.674A=
n.715A=
17g.43099784_43099795delinsCCCA658761297BRCA1n.591_602delinsGG
c.527_538delinsGG (p.Thr176ArgfsTer?)
c.524_535delinsGG (p.Thr175ArgfsTer14)
c.524_535delinsGG (p.Thr175ArgfsTer?)
c.449_460delinsGG (p.Thr150ArgfsTer?)
c.386_397delinsGG (p.Thr129ArgfsTer?)
c.-218-4935_-218-4924delinsGG (n.-218-4935_-218-4924delinsGG)
c.527_538delinsGG (p.Thr176ArgfsTer14)
c.446_457delinsGG (p.Thr149ArgfsTer?)
c.*441_*452delinsGG (n.*441_*452delinsGG)
n.767_778delinsGG
c.*401_*412delinsGG (n.*401_*412delinsGG)
c.*310_*321delinsGG (n.*310_*321delinsGG)
c.247_258delinsGG
c.272_283delinsGG (p.Thr91ArgfsTer14)
c.275_286delinsGG (p.Thr92ArgfsTer14)
c.*463_*474delinsGG (n.*463_*474delinsGG)
c.4+25387_4+25398delinsGG (n.4+25387_4+25398delinsGG)
c.-43-25274_-43-25263delinsGG (n.-43-25274_-43-25263delinsGG)
c.-99+25476_-99+25487delinsGG (n.-99+25476_-99+25487delinsGG)
n.663_674delinsGG
n.704_715delinsGG
17g.43099785G>ACA500124364BRCA1n.601C>T
c.537C>T (p.Tyr179=)
c.534C>T (p.Tyr178=)
c.459C>T (p.Tyr153=)
c.396C>T (p.Tyr132=)
c.-218-4925C>T (n.-218-4925C>T)
c.456C>T (p.Tyr152=)
c.*451C>T (n.*451C>T)
n.777C>T
c.*411C>T (n.*411C>T)
c.*320C>T (n.*320C>T)
c.257C>T
c.282C>T (p.Tyr94=)
c.285C>T (p.Tyr95=)
c.*473C>T (n.*473C>T)
c.4+25397C>T (n.4+25397C>T)
c.-43-25264C>T (n.-43-25264C>T)
c.-99+25486C>T (n.-99+25486C>T)
n.673C>T
n.714C>T
 dbSNP

Number of alleles fetched