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.43099754_43099758delinsTAAAACA2260787638BRCA1n.611+17_611+21delinsTTTTA
c.547+17_547+21delinsTTTTA (n.547+17_547+21delinsTTTTA)
c.544+17_544+21delinsTTTTA (n.544+17_544+21delinsTTTTA)
c.469+17_469+21delinsTTTTA (n.469+17_469+21delinsTTTTA)
c.406+17_406+21delinsTTTTA (n.406+17_406+21delinsTTTTA)
c.-218-4898_-218-4894delinsTTTTA (n.-218-4898_-218-4894delinsTTTTA)
c.466+17_466+21delinsTTTTA (n.466+17_466+21delinsTTTTA)
c.*461+17_*461+21delinsTTTTA (n.*461+17_*461+21delinsTTTTA)
n.804_808delinsTTTTA
c.*421+17_*421+21delinsTTTTA (n.*421+17_*421+21delinsTTTTA)
c.*330+17_*330+21delinsTTTTA (n.*330+17_*330+21delinsTTTTA)
c.267+17_267+21delinsTTTTA
c.292+17_292+21delinsTTTTA (n.292+17_292+21delinsTTTTA)
c.295+17_295+21delinsTTTTA (n.295+17_295+21delinsTTTTA)
c.*483+17_*483+21delinsTTTTA (n.*483+17_*483+21delinsTTTTA)
c.4+25424_4+25428delinsTTTTA (n.4+25424_4+25428delinsTTTTA)
c.-43-25237_-43-25233delinsTTTTA (n.-43-25237_-43-25233delinsTTTTA)
c.-99+25513_-99+25517delinsTTTTA (n.-99+25513_-99+25517delinsTTTTA)
n.683+17_683+21delinsTTTTA
n.724+17_724+21delinsTTTTA
17g.43099755A=CA2260787640BRCA1n.611+20T=
c.547+20T= (n.547+20T=)
c.544+20T= (n.544+20T=)
c.469+20T= (n.469+20T=)
c.406+20T= (n.406+20T=)
c.-218-4895T= (n.-218-4895T=)
c.466+20T= (n.466+20T=)
c.*461+20T= (n.*461+20T=)
n.807T=
c.*421+20T= (n.*421+20T=)
c.*330+20T= (n.*330+20T=)
c.267+20T=
c.292+20T= (n.292+20T=)
c.295+20T= (n.295+20T=)
c.*483+20T= (n.*483+20T=)
c.4+25427T= (n.4+25427T=)
c.-43-25234T= (n.-43-25234T=)
c.-99+25516T= (n.-99+25516T=)
n.683+20T=
n.724+20T=
17g.43099755A>TCA983888470BRCA1n.611+20T>A
c.547+20T>A (n.547+20T>A)
c.544+20T>A (n.544+20T>A)
c.469+20T>A (n.469+20T>A)
c.406+20T>A (n.406+20T>A)
c.-218-4895T>A (n.-218-4895T>A)
c.466+20T>A (n.466+20T>A)
c.*461+20T>A (n.*461+20T>A)
n.807T>A
c.*421+20T>A (n.*421+20T>A)
c.*330+20T>A (n.*330+20T>A)
c.267+20T>A
c.292+20T>A (n.292+20T>A)
c.295+20T>A (n.295+20T>A)
c.*483+20T>A (n.*483+20T>A)
c.4+25427T>A (n.4+25427T>A)
c.-43-25234T>A (n.-43-25234T>A)
c.-99+25516T>A (n.-99+25516T>A)
n.683+20T>A
n.724+20T>A
dbSNP gnomAD v3 gnomAD v4
17g.43099760dupCA2260787639BRCA1n.611+20dup
c.547+20dup (n.547+20dup)
c.544+20dup (n.544+20dup)
c.469+20dup (n.469+20dup)
c.406+20dup (n.406+20dup)
c.-218-4895dup (n.-218-4895dup)
c.466+20dup (n.466+20dup)
c.*461+20dup (n.*461+20dup)
n.807dup
c.*421+20dup (n.*421+20dup)
c.*330+20dup (n.*330+20dup)
c.267+20dup
c.292+20dup (n.292+20dup)
c.295+20dup (n.295+20dup)
c.*483+20dup (n.*483+20dup)
c.4+25427dup (n.4+25427dup)
c.-43-25234dup (n.-43-25234dup)
c.-99+25516dup (n.-99+25516dup)
n.683+20dup
n.724+20dup
dbSNP gnomAD v4
17g.43099760delCA2580094148BRCA1n.611+20del
c.547+20del (n.547+20del)
c.544+20del (n.544+20del)
c.469+20del (n.469+20del)
c.406+20del (n.406+20del)
c.-218-4895del (n.-218-4895del)
c.466+20del (n.466+20del)
c.*461+20del (n.*461+20del)
n.807del
c.*421+20del (n.*421+20del)
c.*330+20del (n.*330+20del)
c.267+20del
c.292+20del (n.292+20del)
c.295+20del (n.295+20del)
c.*483+20del (n.*483+20del)
c.4+25427del (n.4+25427del)
c.-43-25234del (n.-43-25234del)
c.-99+25516del (n.-99+25516del)
n.683+20del
n.724+20del
ClinVar
17g.43099758_43099760delCA626078789BRCA1n.611+18_611+20del
c.547+18_547+20del (n.547+18_547+20del)
c.544+18_544+20del (n.544+18_544+20del)
c.469+18_469+20del (n.469+18_469+20del)
c.406+18_406+20del (n.406+18_406+20del)
c.-218-4897_-218-4895del (n.-218-4897_-218-4895del)
c.466+18_466+20del (n.466+18_466+20del)
c.*461+18_*461+20del (n.*461+18_*461+20del)
n.805_807del
c.*421+18_*421+20del (n.*421+18_*421+20del)
c.*330+18_*330+20del (n.*330+18_*330+20del)
c.267+18_267+20del
c.292+18_292+20del (n.292+18_292+20del)
c.295+18_295+20del (n.295+18_295+20del)
c.*483+18_*483+20del (n.*483+18_*483+20del)
c.4+25425_4+25427del (n.4+25425_4+25427del)
c.-43-25236_-43-25234del (n.-43-25236_-43-25234del)
c.-99+25514_-99+25516del (n.-99+25514_-99+25516del)
n.683+18_683+20del
n.724+18_724+20del
dbSNP gnomAD v2 gnomAD v4
17g.43099757_43099760delCA772205911BRCA1n.611+17_611+20del
c.547+17_547+20del (n.547+17_547+20del)
c.544+17_544+20del (n.544+17_544+20del)
c.469+17_469+20del (n.469+17_469+20del)
c.406+17_406+20del (n.406+17_406+20del)
c.-218-4898_-218-4895del (n.-218-4898_-218-4895del)
c.466+17_466+20del (n.466+17_466+20del)
c.*461+17_*461+20del (n.*461+17_*461+20del)
n.804_807del
c.*421+17_*421+20del (n.*421+17_*421+20del)
c.*330+17_*330+20del (n.*330+17_*330+20del)
c.267+17_267+20del
c.292+17_292+20del (n.292+17_292+20del)
c.295+17_295+20del (n.295+17_295+20del)
c.*483+17_*483+20del (n.*483+17_*483+20del)
c.4+25424_4+25427del (n.4+25424_4+25427del)
c.-43-25237_-43-25234del (n.-43-25237_-43-25234del)
c.-99+25513_-99+25516del (n.-99+25513_-99+25516del)
n.683+17_683+20del
n.724+17_724+20del
dbSNP
17g.43099756A=CA2260787641BRCA1n.611+19T=
c.547+19T= (n.547+19T=)
c.544+19T= (n.544+19T=)
c.469+19T= (n.469+19T=)
c.406+19T= (n.406+19T=)
c.-218-4896T= (n.-218-4896T=)
c.466+19T= (n.466+19T=)
c.*461+19T= (n.*461+19T=)
n.806T=
c.*421+19T= (n.*421+19T=)
c.*330+19T= (n.*330+19T=)
c.267+19T=
c.292+19T= (n.292+19T=)
c.295+19T= (n.295+19T=)
c.*483+19T= (n.*483+19T=)
c.4+25426T= (n.4+25426T=)
c.-43-25235T= (n.-43-25235T=)
c.-99+25515T= (n.-99+25515T=)
n.683+19T=
n.724+19T=
17g.43099756A>CCA2733663582BRCA1n.611+19T>G
c.547+19T>G (n.547+19T>G)
c.544+19T>G (n.544+19T>G)
c.469+19T>G (n.469+19T>G)
c.406+19T>G (n.406+19T>G)
c.-218-4896T>G (n.-218-4896T>G)
c.466+19T>G (n.466+19T>G)
c.*461+19T>G (n.*461+19T>G)
n.806T>G
c.*421+19T>G (n.*421+19T>G)
c.*330+19T>G (n.*330+19T>G)
c.267+19T>G
c.292+19T>G (n.292+19T>G)
c.295+19T>G (n.295+19T>G)
c.*483+19T>G (n.*483+19T>G)
c.4+25426T>G (n.4+25426T>G)
c.-43-25235T>G (n.-43-25235T>G)
c.-99+25515T>G (n.-99+25515T>G)
n.683+19T>G
n.724+19T>G
dbSNP
17g.43099756A>GCA626078792BRCA1n.611+19T>C
c.547+19T>C (n.547+19T>C)
c.544+19T>C (n.544+19T>C)
c.469+19T>C (n.469+19T>C)
c.406+19T>C (n.406+19T>C)
c.-218-4896T>C (n.-218-4896T>C)
c.466+19T>C (n.466+19T>C)
c.*461+19T>C (n.*461+19T>C)
n.806T>C
c.*421+19T>C (n.*421+19T>C)
c.*330+19T>C (n.*330+19T>C)
c.267+19T>C
c.292+19T>C (n.292+19T>C)
c.295+19T>C (n.295+19T>C)
c.*483+19T>C (n.*483+19T>C)
c.4+25426T>C (n.4+25426T>C)
c.-43-25235T>C (n.-43-25235T>C)
c.-99+25515T>C (n.-99+25515T>C)
n.683+19T>C
n.724+19T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43099757A>GCA2499224597BRCA1n.611+18T>C
c.547+18T>C (n.547+18T>C)
c.544+18T>C (n.544+18T>C)
c.469+18T>C (n.469+18T>C)
c.406+18T>C (n.406+18T>C)
c.-218-4897T>C (n.-218-4897T>C)
c.466+18T>C (n.466+18T>C)
c.*461+18T>C (n.*461+18T>C)
n.805T>C
c.*421+18T>C (n.*421+18T>C)
c.*330+18T>C (n.*330+18T>C)
c.267+18T>C
c.292+18T>C (n.292+18T>C)
c.295+18T>C (n.295+18T>C)
c.*483+18T>C (n.*483+18T>C)
c.4+25425T>C (n.4+25425T>C)
c.-43-25236T>C (n.-43-25236T>C)
c.-99+25514T>C (n.-99+25514T>C)
n.683+18T>C
n.724+18T>C
ClinVar dbSNP
17g.43099759A=CA2260787643BRCA1n.611+16T=
c.547+16T= (n.547+16T=)
c.544+16T= (n.544+16T=)
c.469+16T= (n.469+16T=)
c.406+16T= (n.406+16T=)
c.-218-4899T= (n.-218-4899T=)
c.466+16T= (n.466+16T=)
c.*461+16T= (n.*461+16T=)
n.803T=
c.*421+16T= (n.*421+16T=)
c.*330+16T= (n.*330+16T=)
c.267+16T=
c.292+16T= (n.292+16T=)
c.295+16T= (n.295+16T=)
c.*483+16T= (n.*483+16T=)
c.4+25423T= (n.4+25423T=)
c.-43-25238T= (n.-43-25238T=)
c.-99+25512T= (n.-99+25512T=)
n.683+16T=
n.724+16T=
17g.43099759A>CCA915950144BRCA1n.611+16T>G
c.547+16T>G (n.547+16T>G)
c.544+16T>G (n.544+16T>G)
c.469+16T>G (n.469+16T>G)
c.406+16T>G (n.406+16T>G)
c.-218-4899T>G (n.-218-4899T>G)
c.466+16T>G (n.466+16T>G)
c.*461+16T>G (n.*461+16T>G)
n.803T>G
c.*421+16T>G (n.*421+16T>G)
c.*330+16T>G (n.*330+16T>G)
c.267+16T>G
c.292+16T>G (n.292+16T>G)
c.295+16T>G (n.295+16T>G)
c.*483+16T>G (n.*483+16T>G)
c.4+25423T>G (n.4+25423T>G)
c.-43-25238T>G (n.-43-25238T>G)
c.-99+25512T>G (n.-99+25512T>G)
n.683+16T>G
n.724+16T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43099759A>GCA2260787644BRCA1n.611+16T>C
c.547+16T>C (n.547+16T>C)
c.544+16T>C (n.544+16T>C)
c.469+16T>C (n.469+16T>C)
c.406+16T>C (n.406+16T>C)
c.-218-4899T>C (n.-218-4899T>C)
c.466+16T>C (n.466+16T>C)
c.*461+16T>C (n.*461+16T>C)
n.803T>C
c.*421+16T>C (n.*421+16T>C)
c.*330+16T>C (n.*330+16T>C)
c.267+16T>C
c.292+16T>C (n.292+16T>C)
c.295+16T>C (n.295+16T>C)
c.*483+16T>C (n.*483+16T>C)
c.4+25423T>C (n.4+25423T>C)
c.-43-25238T>C (n.-43-25238T>C)
c.-99+25512T>C (n.-99+25512T>C)
n.683+16T>C
n.724+16T>C
dbSNP
17g.43099759A>TCA2733677465BRCA1n.611+16T>A
c.547+16T>A (n.547+16T>A)
c.544+16T>A (n.544+16T>A)
c.469+16T>A (n.469+16T>A)
c.406+16T>A (n.406+16T>A)
c.-218-4899T>A (n.-218-4899T>A)
c.466+16T>A (n.466+16T>A)
c.*461+16T>A (n.*461+16T>A)
n.803T>A
c.*421+16T>A (n.*421+16T>A)
c.*330+16T>A (n.*330+16T>A)
c.267+16T>A
c.292+16T>A (n.292+16T>A)
c.295+16T>A (n.295+16T>A)
c.*483+16T>A (n.*483+16T>A)
c.4+25423T>A (n.4+25423T>A)
c.-43-25238T>A (n.-43-25238T>A)
c.-99+25512T>A (n.-99+25512T>A)
n.683+16T>A
n.724+16T>A
dbSNP
17g.43099759_43099761delinsAACCA2260787642BRCA1n.611+14_611+16delinsGTT
c.547+14_547+16delinsGTT (n.547+14_547+16delinsGTT)
c.544+14_544+16delinsGTT (n.544+14_544+16delinsGTT)
c.469+14_469+16delinsGTT (n.469+14_469+16delinsGTT)
c.406+14_406+16delinsGTT (n.406+14_406+16delinsGTT)
c.-218-4901_-218-4899delinsGTT (n.-218-4901_-218-4899delinsGTT)
c.466+14_466+16delinsGTT (n.466+14_466+16delinsGTT)
c.*461+14_*461+16delinsGTT (n.*461+14_*461+16delinsGTT)
n.801_803delinsGTT
c.*421+14_*421+16delinsGTT (n.*421+14_*421+16delinsGTT)
c.*330+14_*330+16delinsGTT (n.*330+14_*330+16delinsGTT)
c.267+14_267+16delinsGTT
c.292+14_292+16delinsGTT (n.292+14_292+16delinsGTT)
c.295+14_295+16delinsGTT (n.295+14_295+16delinsGTT)
c.*483+14_*483+16delinsGTT (n.*483+14_*483+16delinsGTT)
c.4+25421_4+25423delinsGTT (n.4+25421_4+25423delinsGTT)
c.-43-25240_-43-25238delinsGTT (n.-43-25240_-43-25238delinsGTT)
c.-99+25510_-99+25512delinsGTT (n.-99+25510_-99+25512delinsGTT)
n.683+14_683+16delinsGTT
n.724+14_724+16delinsGTT
17g.43099760A>GCA2499224598BRCA1n.611+15T>C
c.547+15T>C (n.547+15T>C)
c.544+15T>C (n.544+15T>C)
c.469+15T>C (n.469+15T>C)
c.406+15T>C (n.406+15T>C)
c.-218-4900T>C (n.-218-4900T>C)
c.466+15T>C (n.466+15T>C)
c.*461+15T>C (n.*461+15T>C)
n.802T>C
c.*421+15T>C (n.*421+15T>C)
c.*330+15T>C (n.*330+15T>C)
c.267+15T>C
c.292+15T>C (n.292+15T>C)
c.295+15T>C (n.295+15T>C)
c.*483+15T>C (n.*483+15T>C)
c.4+25422T>C (n.4+25422T>C)
c.-43-25239T>C (n.-43-25239T>C)
c.-99+25511T>C (n.-99+25511T>C)
n.683+15T>C
n.724+15T>C
ClinVar dbSNP
17g.43099760A>TCA2733925259BRCA1n.611+15T>A
c.547+15T>A (n.547+15T>A)
c.544+15T>A (n.544+15T>A)
c.469+15T>A (n.469+15T>A)
c.406+15T>A (n.406+15T>A)
c.-218-4900T>A (n.-218-4900T>A)
c.466+15T>A (n.466+15T>A)
c.*461+15T>A (n.*461+15T>A)
n.802T>A
c.*421+15T>A (n.*421+15T>A)
c.*330+15T>A (n.*330+15T>A)
c.267+15T>A
c.292+15T>A (n.292+15T>A)
c.295+15T>A (n.295+15T>A)
c.*483+15T>A (n.*483+15T>A)
c.4+25422T>A (n.4+25422T>A)
c.-43-25239T>A (n.-43-25239T>A)
c.-99+25511T>A (n.-99+25511T>A)
n.683+15T>A
n.724+15T>A
dbSNP
17g.43099760_43099761delCA645373208BRCA1n.611+14_611+15del
c.547+14_547+15del (n.547+14_547+15del)
c.544+14_544+15del (n.544+14_544+15del)
c.469+14_469+15del (n.469+14_469+15del)
c.406+14_406+15del (n.406+14_406+15del)
c.-218-4901_-218-4900del (n.-218-4901_-218-4900del)
c.466+14_466+15del (n.466+14_466+15del)
c.*461+14_*461+15del (n.*461+14_*461+15del)
n.801_802del
c.*421+14_*421+15del (n.*421+14_*421+15del)
c.*330+14_*330+15del (n.*330+14_*330+15del)
c.267+14_267+15del
c.292+14_292+15del (n.292+14_292+15del)
c.295+14_295+15del (n.295+14_295+15del)
c.*483+14_*483+15del (n.*483+14_*483+15del)
c.4+25421_4+25422del (n.4+25421_4+25422del)
c.-43-25240_-43-25239del (n.-43-25240_-43-25239del)
c.-99+25510_-99+25511del (n.-99+25510_-99+25511del)
n.683+14_683+15del
n.724+14_724+15del
ClinVar dbSNP
17g.43099760_43099761delinsACCA2260787645BRCA1n.611+14_611+15delinsGT
c.547+14_547+15delinsGT (n.547+14_547+15delinsGT)
c.544+14_544+15delinsGT (n.544+14_544+15delinsGT)
c.469+14_469+15delinsGT (n.469+14_469+15delinsGT)
c.406+14_406+15delinsGT (n.406+14_406+15delinsGT)
c.-218-4901_-218-4900delinsGT (n.-218-4901_-218-4900delinsGT)
c.466+14_466+15delinsGT (n.466+14_466+15delinsGT)
c.*461+14_*461+15delinsGT (n.*461+14_*461+15delinsGT)
n.801_802delinsGT
c.*421+14_*421+15delinsGT (n.*421+14_*421+15delinsGT)
c.*330+14_*330+15delinsGT (n.*330+14_*330+15delinsGT)
c.267+14_267+15delinsGT
c.292+14_292+15delinsGT (n.292+14_292+15delinsGT)
c.295+14_295+15delinsGT (n.295+14_295+15delinsGT)
c.*483+14_*483+15delinsGT (n.*483+14_*483+15delinsGT)
c.4+25421_4+25422delinsGT (n.4+25421_4+25422delinsGT)
c.-43-25240_-43-25239delinsGT (n.-43-25240_-43-25239delinsGT)
c.-99+25510_-99+25511delinsGT (n.-99+25510_-99+25511delinsGT)
n.683+14_683+15delinsGT
n.724+14_724+15delinsGT
17g.43099761C>ACA2733651177BRCA1n.611+14G>T
c.547+14G>T (n.547+14G>T)
c.544+14G>T (n.544+14G>T)
c.469+14G>T (n.469+14G>T)
c.406+14G>T (n.406+14G>T)
c.-218-4901G>T (n.-218-4901G>T)
c.466+14G>T (n.466+14G>T)
c.*461+14G>T (n.*461+14G>T)
n.801G>T
c.*421+14G>T (n.*421+14G>T)
c.*330+14G>T (n.*330+14G>T)
c.267+14G>T
c.292+14G>T (n.292+14G>T)
c.295+14G>T (n.295+14G>T)
c.*483+14G>T (n.*483+14G>T)
c.4+25421G>T (n.4+25421G>T)
c.-43-25240G>T (n.-43-25240G>T)
c.-99+25510G>T (n.-99+25510G>T)
n.683+14G>T
n.724+14G>T
dbSNP
17g.43099761C=CA2260787646BRCA1n.611+14G=
c.547+14G= (n.547+14G=)
c.544+14G= (n.544+14G=)
c.469+14G= (n.469+14G=)
c.406+14G= (n.406+14G=)
c.-218-4901G= (n.-218-4901G=)
c.466+14G= (n.466+14G=)
c.*461+14G= (n.*461+14G=)
n.801G=
c.*421+14G= (n.*421+14G=)
c.*330+14G= (n.*330+14G=)
c.267+14G=
c.292+14G= (n.292+14G=)
c.295+14G= (n.295+14G=)
c.*483+14G= (n.*483+14G=)
c.4+25421G= (n.4+25421G=)
c.-43-25240G= (n.-43-25240G=)
c.-99+25510G= (n.-99+25510G=)
n.683+14G=
n.724+14G=
17g.43099761C>GCA2638065344BRCA1n.611+14G>C
c.547+14G>C (n.547+14G>C)
c.544+14G>C (n.544+14G>C)
c.469+14G>C (n.469+14G>C)
c.406+14G>C (n.406+14G>C)
c.-218-4901G>C (n.-218-4901G>C)
c.466+14G>C (n.466+14G>C)
c.*461+14G>C (n.*461+14G>C)
n.801G>C
c.*421+14G>C (n.*421+14G>C)
c.*330+14G>C (n.*330+14G>C)
c.267+14G>C
c.292+14G>C (n.292+14G>C)
c.295+14G>C (n.295+14G>C)
c.*483+14G>C (n.*483+14G>C)
c.4+25421G>C (n.4+25421G>C)
c.-43-25240G>C (n.-43-25240G>C)
c.-99+25510G>C (n.-99+25510G>C)
n.683+14G>C
n.724+14G>C
dbSNP gnomAD v4
17g.43099761C>TCA16608461BRCA1n.611+14G>A
c.547+14G>A (n.547+14G>A)
c.544+14G>A (n.544+14G>A)
c.469+14G>A (n.469+14G>A)
c.406+14G>A (n.406+14G>A)
c.-218-4901G>A (n.-218-4901G>A)
c.466+14G>A (n.466+14G>A)
c.*461+14G>A (n.*461+14G>A)
n.801G>A
c.*421+14G>A (n.*421+14G>A)
c.*330+14G>A (n.*330+14G>A)
c.267+14G>A
c.292+14G>A (n.292+14G>A)
c.295+14G>A (n.295+14G>A)
c.*483+14G>A (n.*483+14G>A)
c.4+25421G>A (n.4+25421G>A)
c.-43-25240G>A (n.-43-25240G>A)
c.-99+25510G>A (n.-99+25510G>A)
n.683+14G>A
n.724+14G>A
ClinVar dbSNP
17g.43099762delCA003631BRCA1n.611+14del
c.547+14del (n.547+14del)
c.544+14del (n.544+14del)
c.469+14del (n.469+14del)
c.406+14del (n.406+14del)
c.-218-4901del (n.-218-4901del)
c.466+14del (n.466+14del)
c.*461+14del (n.*461+14del)
n.801del
c.*421+14del (n.*421+14del)
c.*330+14del (n.*330+14del)
c.267+14del
c.292+14del (n.292+14del)
c.295+14del (n.295+14del)
c.*483+14del (n.*483+14del)
c.4+25421del (n.4+25421del)
c.-43-25240del (n.-43-25240del)
c.-99+25510del (n.-99+25510del)
n.683+14del
n.724+14del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43099762C=CA2260787647BRCA1n.611+13G=
c.547+13G= (n.547+13G=)
c.544+13G= (n.544+13G=)
c.469+13G= (n.469+13G=)
c.406+13G= (n.406+13G=)
c.-218-4902G= (n.-218-4902G=)
c.466+13G= (n.466+13G=)
c.*461+13G= (n.*461+13G=)
n.800G=
c.*421+13G= (n.*421+13G=)
c.*330+13G= (n.*330+13G=)
c.267+13G=
c.292+13G= (n.292+13G=)
c.295+13G= (n.295+13G=)
c.*483+13G= (n.*483+13G=)
c.4+25420G= (n.4+25420G=)
c.-43-25241G= (n.-43-25241G=)
c.-99+25509G= (n.-99+25509G=)
n.683+13G=
n.724+13G=
17g.43099762C>GCA2733647728BRCA1n.611+13G>C
c.547+13G>C (n.547+13G>C)
c.544+13G>C (n.544+13G>C)
c.469+13G>C (n.469+13G>C)
c.406+13G>C (n.406+13G>C)
c.-218-4902G>C (n.-218-4902G>C)
c.466+13G>C (n.466+13G>C)
c.*461+13G>C (n.*461+13G>C)
n.800G>C
c.*421+13G>C (n.*421+13G>C)
c.*330+13G>C (n.*330+13G>C)
c.267+13G>C
c.292+13G>C (n.292+13G>C)
c.295+13G>C (n.295+13G>C)
c.*483+13G>C (n.*483+13G>C)
c.4+25420G>C (n.4+25420G>C)
c.-43-25241G>C (n.-43-25241G>C)
c.-99+25509G>C (n.-99+25509G>C)
n.683+13G>C
n.724+13G>C
dbSNP
17g.43099762C>TCA056310BRCA1n.611+13G>A
c.547+13G>A (n.547+13G>A)
c.544+13G>A (n.544+13G>A)
c.469+13G>A (n.469+13G>A)
c.406+13G>A (n.406+13G>A)
c.-218-4902G>A (n.-218-4902G>A)
c.466+13G>A (n.466+13G>A)
c.*461+13G>A (n.*461+13G>A)
n.800G>A
c.*421+13G>A (n.*421+13G>A)
c.*330+13G>A (n.*330+13G>A)
c.267+13G>A
c.292+13G>A (n.292+13G>A)
c.295+13G>A (n.295+13G>A)
c.*483+13G>A (n.*483+13G>A)
c.4+25420G>A (n.4+25420G>A)
c.-43-25241G>A (n.-43-25241G>A)
c.-99+25509G>A (n.-99+25509G>A)
n.683+13G>A
n.724+13G>A
ClinVar dbSNP ExAC gnomAD v2
17g.43099763T>CCA626078807BRCA1n.611+12A>G
c.547+12A>G (n.547+12A>G)
c.544+12A>G (n.544+12A>G)
c.469+12A>G (n.469+12A>G)
c.406+12A>G (n.406+12A>G)
c.-218-4903A>G (n.-218-4903A>G)
c.466+12A>G (n.466+12A>G)
c.*461+12A>G (n.*461+12A>G)
n.799A>G
c.*421+12A>G (n.*421+12A>G)
c.*330+12A>G (n.*330+12A>G)
c.267+12A>G
c.292+12A>G (n.292+12A>G)
c.295+12A>G (n.295+12A>G)
c.*483+12A>G (n.*483+12A>G)
c.4+25419A>G (n.4+25419A>G)
c.-43-25242A>G (n.-43-25242A>G)
c.-99+25508A>G (n.-99+25508A>G)
n.683+12A>G
n.724+12A>G
dbSNP gnomAD v2 gnomAD v4
17g.43099763T>GCA2576282686BRCA1n.611+12A>C
c.547+12A>C (n.547+12A>C)
c.544+12A>C (n.544+12A>C)
c.469+12A>C (n.469+12A>C)
c.406+12A>C (n.406+12A>C)
c.-218-4903A>C (n.-218-4903A>C)
c.466+12A>C (n.466+12A>C)
c.*461+12A>C (n.*461+12A>C)
n.799A>C
c.*421+12A>C (n.*421+12A>C)
c.*330+12A>C (n.*330+12A>C)
c.267+12A>C
c.292+12A>C (n.292+12A>C)
c.295+12A>C (n.295+12A>C)
c.*483+12A>C (n.*483+12A>C)
c.4+25419A>C (n.4+25419A>C)
c.-43-25242A>C (n.-43-25242A>C)
c.-99+25508A>C (n.-99+25508A>C)
n.683+12A>C
n.724+12A>C
gnomAD v4
17g.43099763T=CA2260787648BRCA1n.611+12A=
c.547+12A= (n.547+12A=)
c.544+12A= (n.544+12A=)
c.469+12A= (n.469+12A=)
c.406+12A= (n.406+12A=)
c.-218-4903A= (n.-218-4903A=)
c.466+12A= (n.466+12A=)
c.*461+12A= (n.*461+12A=)
n.799A=
c.*421+12A= (n.*421+12A=)
c.*330+12A= (n.*330+12A=)
c.267+12A=
c.292+12A= (n.292+12A=)
c.295+12A= (n.295+12A=)
c.*483+12A= (n.*483+12A=)
c.4+25419A= (n.4+25419A=)
c.-43-25242A= (n.-43-25242A=)
c.-99+25508A= (n.-99+25508A=)
n.683+12A=
n.724+12A=
17g.43099764G>ACA2733693694BRCA1n.611+11C>T
c.547+11C>T (n.547+11C>T)
c.544+11C>T (n.544+11C>T)
c.469+11C>T (n.469+11C>T)
c.406+11C>T (n.406+11C>T)
c.-218-4904C>T (n.-218-4904C>T)
c.466+11C>T (n.466+11C>T)
c.*461+11C>T (n.*461+11C>T)
n.798C>T
c.*421+11C>T (n.*421+11C>T)
c.*330+11C>T (n.*330+11C>T)
c.267+11C>T
c.292+11C>T (n.292+11C>T)
c.295+11C>T (n.295+11C>T)
c.*483+11C>T (n.*483+11C>T)
c.4+25418C>T (n.4+25418C>T)
c.-43-25243C>T (n.-43-25243C>T)
c.-99+25507C>T (n.-99+25507C>T)
n.683+11C>T
n.724+11C>T
dbSNP
17g.43099764G>CCA2733693693BRCA1n.611+11C>G
c.547+11C>G (n.547+11C>G)
c.544+11C>G (n.544+11C>G)
c.469+11C>G (n.469+11C>G)
c.406+11C>G (n.406+11C>G)
c.-218-4904C>G (n.-218-4904C>G)
c.466+11C>G (n.466+11C>G)
c.*461+11C>G (n.*461+11C>G)
n.798C>G
c.*421+11C>G (n.*421+11C>G)
c.*330+11C>G (n.*330+11C>G)
c.267+11C>G
c.292+11C>G (n.292+11C>G)
c.295+11C>G (n.295+11C>G)
c.*483+11C>G (n.*483+11C>G)
c.4+25418C>G (n.4+25418C>G)
c.-43-25243C>G (n.-43-25243C>G)
c.-99+25507C>G (n.-99+25507C>G)
n.683+11C>G
n.724+11C>G
dbSNP
17g.43099764G=CA2260787649BRCA1n.611+11C=
c.547+11C= (n.547+11C=)
c.544+11C= (n.544+11C=)
c.469+11C= (n.469+11C=)
c.406+11C= (n.406+11C=)
c.-218-4904C= (n.-218-4904C=)
c.466+11C= (n.466+11C=)
c.*461+11C= (n.*461+11C=)
n.798C=
c.*421+11C= (n.*421+11C=)
c.*330+11C= (n.*330+11C=)
c.267+11C=
c.292+11C= (n.292+11C=)
c.295+11C= (n.295+11C=)
c.*483+11C= (n.*483+11C=)
c.4+25418C= (n.4+25418C=)
c.-43-25243C= (n.-43-25243C=)
c.-99+25507C= (n.-99+25507C=)
n.683+11C=
n.724+11C=
17g.43099764G>TCA913188970BRCA1n.611+11C>A
c.547+11C>A (n.547+11C>A)
c.544+11C>A (n.544+11C>A)
c.469+11C>A (n.469+11C>A)
c.406+11C>A (n.406+11C>A)
c.-218-4904C>A (n.-218-4904C>A)
c.466+11C>A (n.466+11C>A)
c.*461+11C>A (n.*461+11C>A)
n.798C>A
c.*421+11C>A (n.*421+11C>A)
c.*330+11C>A (n.*330+11C>A)
c.267+11C>A
c.292+11C>A (n.292+11C>A)
c.295+11C>A (n.295+11C>A)
c.*483+11C>A (n.*483+11C>A)
c.4+25418C>A (n.4+25418C>A)
c.-43-25243C>A (n.-43-25243C>A)
c.-99+25507C>A (n.-99+25507C>A)
n.683+11C>A
n.724+11C>A
ClinVar dbSNP gnomAD v4
17g.43099765A>GCA2733925263BRCA1n.611+10T>C
c.547+10T>C (n.547+10T>C)
c.544+10T>C (n.544+10T>C)
c.469+10T>C (n.469+10T>C)
c.406+10T>C (n.406+10T>C)
c.-218-4905T>C (n.-218-4905T>C)
c.466+10T>C (n.466+10T>C)
c.*461+10T>C (n.*461+10T>C)
n.797T>C
c.*421+10T>C (n.*421+10T>C)
c.*330+10T>C (n.*330+10T>C)
c.267+10T>C
c.292+10T>C (n.292+10T>C)
c.295+10T>C (n.295+10T>C)
c.*483+10T>C (n.*483+10T>C)
c.4+25417T>C (n.4+25417T>C)
c.-43-25244T>C (n.-43-25244T>C)
c.-99+25506T>C (n.-99+25506T>C)
n.683+10T>C
n.724+10T>C
dbSNP
17g.43099765A>TCA2733925261BRCA1n.611+10T>A
c.547+10T>A (n.547+10T>A)
c.544+10T>A (n.544+10T>A)
c.469+10T>A (n.469+10T>A)
c.406+10T>A (n.406+10T>A)
c.-218-4905T>A (n.-218-4905T>A)
c.466+10T>A (n.466+10T>A)
c.*461+10T>A (n.*461+10T>A)
n.797T>A
c.*421+10T>A (n.*421+10T>A)
c.*330+10T>A (n.*330+10T>A)
c.267+10T>A
c.292+10T>A (n.292+10T>A)
c.295+10T>A (n.295+10T>A)
c.*483+10T>A (n.*483+10T>A)
c.4+25417T>A (n.4+25417T>A)
c.-43-25244T>A (n.-43-25244T>A)
c.-99+25506T>A (n.-99+25506T>A)
n.683+10T>A
n.724+10T>A
dbSNP

Number of alleles fetched