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.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.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.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.43099797_43099923delinsCTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGCTAAACAGTATGGTAAAGAACAGTCAAGCAATTGTTGGCCAGTCA2260787681BRCA1n.506-43_589delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.442-43_525delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.442-46_522delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.364-43_447delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.301-43_384delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.-218-5063_-218-4937delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG (n.-218-5063_-218-4937delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG)
c.364-46_444delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.*356-43_*439delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
n.685-46_765delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.*316-43_*399delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.*228-46_*308delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.165-46_245delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.190-46_270delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.190-43_273delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.*378-43_*461delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
c.4+25259_4+25385delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG (n.4+25259_4+25385delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG)
c.-44+25348_-43-25276delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG (n.-44+25348_-43-25276delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG)
c.-99+25348_-99+25474delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG (n.-99+25348_-99+25474delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG)
n.581-46_661delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
n.622-46_702delinsACTGGCCAACAATTGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAG
17g.43099799_43099924delCA10590063BRCA1n.506-43_588del
c.442-43_524del
c.442-46_521del
c.364-43_446del
c.301-43_383del
c.-218-5063_-218-4938del (n.-218-5063_-218-4938del)
c.364-46_443del
c.*356-43_*438del
n.685-46_764del
c.*316-43_*398del
c.*228-46_*307del
c.165-46_244del
c.190-46_269del
c.190-43_272del
c.*378-43_*460del
c.4+25259_4+25384del (n.4+25259_4+25384del)
c.-44+25348_-43-25277del (n.-44+25348_-43-25277del)
c.-99+25348_-99+25473del (n.-99+25348_-99+25473del)
n.581-46_660del
n.622-46_701del
 ClinVar dbSNP
17g.43099855_43099856delCA002985BRCA1n.534_535del
c.470_471del (p.Ser157Ter)
c.467_468del (p.Ser156Ter)
c.392_393del (p.Ser131Ter)
c.329_330del (p.Ser110Ter)
c.-218-4992_-218-4991del (n.-218-4992_-218-4991del)
c.389_390del (p.Ser130Ter)
c.*384_*385del (n.*384_*385del)
n.710_711del
c.*344_*345del (n.*344_*345del)
c.*253_*254del (n.*253_*254del)
c.*256_*257del (n.*256_*257del)
c.190_191del
c.215_216del (p.Ser72Ter)
c.218_219del (p.Ser73Ter)
c.*406_*407del (n.*406_*407del)
c.4+25330_4+25331del (n.4+25330_4+25331del)
c.-43-25331_-43-25330del (n.-43-25331_-43-25330del)
c.-99+25419_-99+25420del (n.-99+25419_-99+25420del)
n.606_607del
n.647_648del
 ClinVar dbSNP
17g.43099854_43099862delinsGAGTTGGACCA2260787743BRCA1n.524_532delinsGTCCAACTC
c.460_468delinsGTCCAACTC (p.Val154=)
c.457_465delinsGTCCAACTC (p.Val153=)
c.382_390delinsGTCCAACTC (p.Val128=)
c.319_327delinsGTCCAACTC (p.Val107=)
c.-218-5002_-218-4994delinsGTCCAACTC (n.-218-5002_-218-4994delinsGTCCAACTC)
c.379_387delinsGTCCAACTC (p.Val127=)
c.*374_*382delinsGTCCAACTC (n.*374_*382delinsGTCCAACTC)
n.700_708delinsGTCCAACTC
c.*334_*342delinsGTCCAACTC (n.*334_*342delinsGTCCAACTC)
c.*243_*251delinsGTCCAACTC (n.*243_*251delinsGTCCAACTC)
c.*246_*254delinsGTCCAACTC (n.*246_*254delinsGTCCAACTC)
c.180_188delinsGTCCAACTC
c.205_213delinsGTCCAACTC (p.Val69=)
c.208_216delinsGTCCAACTC (p.Val70=)
c.*396_*404delinsGTCCAACTC (n.*396_*404delinsGTCCAACTC)
c.4+25320_4+25328delinsGTCCAACTC (n.4+25320_4+25328delinsGTCCAACTC)
c.-43-25341_-43-25333delinsGTCCAACTC (n.-43-25341_-43-25333delinsGTCCAACTC)
c.-99+25409_-99+25417delinsGTCCAACTC (n.-99+25409_-99+25417delinsGTCCAACTC)
n.596_604delinsGTCCAACTC
n.637_645delinsGTCCAACTC
17g.43099855A=CA2260787744BRCA1n.531T=
c.467T= (p.Leu156=)
c.464T= (p.Leu155=)
c.389T= (p.Leu130=)
c.326T= (p.Leu109=)
c.-218-4995T= (n.-218-4995T=)
c.386T= (p.Leu129=)
c.*381T= (n.*381T=)
n.707T=
c.*341T= (n.*341T=)
c.*250T= (n.*250T=)
c.*253T= (n.*253T=)
c.187T=
c.212T= (p.Leu71=)
c.215T= (p.Leu72=)
c.*403T= (n.*403T=)
c.4+25327T= (n.4+25327T=)
c.-43-25334T= (n.-43-25334T=)
c.-99+25416T= (n.-99+25416T=)
n.603T=
n.644T=
17g.43099855A>CCA10601201BRCA1n.531T>G
c.467T>G (p.Leu156Arg)
c.464T>G (p.Leu155Arg)
c.389T>G (p.Leu130Arg)
c.326T>G (p.Leu109Arg)
c.-218-4995T>G (n.-218-4995T>G)
c.386T>G (p.Leu129Arg)
c.*381T>G (n.*381T>G)
n.707T>G
c.*341T>G (n.*341T>G)
c.*250T>G (n.*250T>G)
c.*253T>G (n.*253T>G)
c.187T>G
c.212T>G (p.Leu71Arg)
c.215T>G (p.Leu72Arg)
c.*403T>G (n.*403T>G)
c.4+25327T>G (n.4+25327T>G)
c.-43-25334T>G (n.-43-25334T>G)
c.-99+25416T>G (n.-99+25416T>G)
n.603T>G
n.644T>G
17g.43099855A>GCA10601202BRCA1n.531T>C
c.467T>C (p.Leu156Pro)
c.464T>C (p.Leu155Pro)
c.389T>C (p.Leu130Pro)
c.326T>C (p.Leu109Pro)
c.-218-4995T>C (n.-218-4995T>C)
c.386T>C (p.Leu129Pro)
c.*381T>C (n.*381T>C)
n.707T>C
c.*341T>C (n.*341T>C)
c.*250T>C (n.*250T>C)
c.*253T>C (n.*253T>C)
c.187T>C
c.212T>C (p.Leu71Pro)
c.215T>C (p.Leu72Pro)
c.*403T>C (n.*403T>C)
c.4+25327T>C (n.4+25327T>C)
c.-43-25334T>C (n.-43-25334T>C)
c.-99+25416T>C (n.-99+25416T>C)
n.603T>C
n.644T>C
17g.43099855A>TCA10601203BRCA1n.531T>A
c.467T>A (p.Leu156His)
c.464T>A (p.Leu155His)
c.389T>A (p.Leu130His)
c.326T>A (p.Leu109His)
c.-218-4995T>A (n.-218-4995T>A)
c.386T>A (p.Leu129His)
c.*381T>A (n.*381T>A)
n.707T>A
c.*341T>A (n.*341T>A)
c.*250T>A (n.*250T>A)
c.*253T>A (n.*253T>A)
c.187T>A
c.212T>A (p.Leu71His)
c.215T>A (p.Leu72His)
c.*403T>A (n.*403T>A)
c.4+25327T>A (n.4+25327T>A)
c.-43-25334T>A (n.-43-25334T>A)
c.-99+25416T>A (n.-99+25416T>A)
n.603T>A
n.644T>A
17g.43099856_43099863delCA16615701BRCA1n.524_531del
c.460_467del (p.Val154LeufsTer2)
c.457_464del (p.Val153LeufsTer2)
c.382_389del (p.Val128LeufsTer2)
c.319_326del (p.Val107LeufsTer2)
c.-218-5002_-218-4995del (n.-218-5002_-218-4995del)
c.379_386del (p.Val127LeufsTer2)
c.*374_*381del (n.*374_*381del)
n.700_707del
c.*334_*341del (n.*334_*341del)
c.*243_*250del (n.*243_*250del)
c.*246_*253del (n.*246_*253del)
c.180_187del
c.205_212del (p.Val69LeufsTer2)
c.208_215del (p.Val70LeufsTer2)
c.*396_*403del (n.*396_*403del)
c.4+25320_4+25327del (n.4+25320_4+25327del)
c.-43-25341_-43-25334del (n.-43-25341_-43-25334del)
c.-99+25409_-99+25416del (n.-99+25409_-99+25416del)
n.596_603del
n.637_644del
 ClinVar dbSNP
17g.43099856G>ACA10601204BRCA1n.530C>T
c.466C>T (p.Leu156Phe)
c.463C>T (p.Leu155Phe)
c.388C>T (p.Leu130Phe)
c.325C>T (p.Leu109Phe)
c.-218-4996C>T (n.-218-4996C>T)
c.385C>T (p.Leu129Phe)
c.*380C>T (n.*380C>T)
n.706C>T
c.*340C>T (n.*340C>T)
c.*249C>T (n.*249C>T)
c.*252C>T (n.*252C>T)
c.186C>T
c.211C>T (p.Leu71Phe)
c.214C>T (p.Leu72Phe)
c.*402C>T (n.*402C>T)
c.4+25326C>T (n.4+25326C>T)
c.-43-25335C>T (n.-43-25335C>T)
c.-99+25415C>T (n.-99+25415C>T)
n.602C>T
n.643C>T
 ClinVar dbSNP
17g.43099856G>CCA002956BRCA1n.530C>G
c.466C>G (p.Leu156Val)
c.463C>G (p.Leu155Val)
c.388C>G (p.Leu130Val)
c.325C>G (p.Leu109Val)
c.-218-4996C>G (n.-218-4996C>G)
c.385C>G (p.Leu129Val)
c.*380C>G (n.*380C>G)
n.706C>G
c.*340C>G (n.*340C>G)
c.*249C>G (n.*249C>G)
c.*252C>G (n.*252C>G)
c.186C>G
c.211C>G (p.Leu71Val)
c.214C>G (p.Leu72Val)
c.*402C>G (n.*402C>G)
c.4+25326C>G (n.4+25326C>G)
c.-43-25335C>G (n.-43-25335C>G)
c.-99+25415C>G (n.-99+25415C>G)
n.602C>G
n.643C>G
 ClinVar dbSNP
17g.43099856G=CA2260787745BRCA1n.530C=
c.466C= (p.Leu156=)
c.463C= (p.Leu155=)
c.388C= (p.Leu130=)
c.325C= (p.Leu109=)
c.-218-4996C= (n.-218-4996C=)
c.385C= (p.Leu129=)
c.*380C= (n.*380C=)
n.706C=
c.*340C= (n.*340C=)
c.*249C= (n.*249C=)
c.*252C= (n.*252C=)
c.186C=
c.211C= (p.Leu71=)
c.214C= (p.Leu72=)
c.*402C= (n.*402C=)
c.4+25326C= (n.4+25326C=)
c.-43-25335C= (n.-43-25335C=)
c.-99+25415C= (n.-99+25415C=)
n.602C=
n.643C=
17g.43099856G>TCA10580695BRCA1n.530C>A
c.466C>A (p.Leu156Ile)
c.463C>A (p.Leu155Ile)
c.388C>A (p.Leu130Ile)
c.325C>A (p.Leu109Ile)
c.-218-4996C>A (n.-218-4996C>A)
c.385C>A (p.Leu129Ile)
c.*380C>A (n.*380C>A)
n.706C>A
c.*340C>A (n.*340C>A)
c.*249C>A (n.*249C>A)
c.*252C>A (n.*252C>A)
c.186C>A
c.211C>A (p.Leu71Ile)
c.214C>A (p.Leu72Ile)
c.*402C>A (n.*402C>A)
c.4+25326C>A (n.4+25326C>A)
c.-43-25335C>A (n.-43-25335C>A)
c.-99+25415C>A (n.-99+25415C>A)
n.602C>A
n.643C>A
 ClinVar dbSNP gnomAD v4
17g.43099856dupCA002953BRCA1n.530dup
c.466dup (p.Leu156ProfsTer3)
c.463dup (p.Leu155ProfsTer3)
c.388dup (p.Leu130ProfsTer3)
c.325dup (p.Leu109ProfsTer3)
c.-218-4996dup (n.-218-4996dup)
c.385dup (p.Leu129ProfsTer3)
c.*380dup (n.*380dup)
n.706dup
c.*340dup (n.*340dup)
c.*249dup (n.*249dup)
c.*252dup (n.*252dup)
c.186dup
c.211dup (p.Leu71ProfsTer3)
c.214dup (p.Leu72ProfsTer3)
c.*402dup (n.*402dup)
c.4+25326dup (n.4+25326dup)
c.-43-25335dup (n.-43-25335dup)
c.-99+25415dup (n.-99+25415dup)
n.602dup
n.643dup
 ClinVar dbSNP
17g.43099856_43099857delinsGTCA2260787747BRCA1n.529_530delinsAC
c.465_466delinsAC (p.Gln155=)
c.462_463delinsAC (p.Gln154=)
c.387_388delinsAC (p.Gln129=)
c.324_325delinsAC (p.Gln108=)
c.-218-4997_-218-4996delinsAC (n.-218-4997_-218-4996delinsAC)
c.384_385delinsAC (p.Gln128=)
c.*379_*380delinsAC (n.*379_*380delinsAC)
n.705_706delinsAC
c.*339_*340delinsAC (n.*339_*340delinsAC)
c.*248_*249delinsAC (n.*248_*249delinsAC)
c.*251_*252delinsAC (n.*251_*252delinsAC)
c.185_186delinsAC
c.210_211delinsAC (p.Gln70=)
c.213_214delinsAC (p.Gln71=)
c.*401_*402delinsAC (n.*401_*402delinsAC)
c.4+25325_4+25326delinsAC (n.4+25325_4+25326delinsAC)
c.-43-25336_-43-25335delinsAC (n.-43-25336_-43-25335delinsAC)
c.-99+25414_-99+25415delinsAC (n.-99+25414_-99+25415delinsAC)
n.601_602delinsAC
n.642_643delinsAC
17g.43099856_43099858delinsGTTCA2260787746BRCA1n.528_530delinsAAC
c.464_466delinsAAC (p.Gln155=)
c.461_463delinsAAC (p.Gln154=)
c.386_388delinsAAC (p.Gln129=)
c.323_325delinsAAC (p.Gln108=)
c.-218-4998_-218-4996delinsAAC (n.-218-4998_-218-4996delinsAAC)
c.383_385delinsAAC (p.Gln128=)
c.*378_*380delinsAAC (n.*378_*380delinsAAC)
n.704_706delinsAAC
c.*338_*340delinsAAC (n.*338_*340delinsAAC)
c.*247_*249delinsAAC (n.*247_*249delinsAAC)
c.*250_*252delinsAAC (n.*250_*252delinsAAC)
c.184_186delinsAAC
c.209_211delinsAAC (p.Gln70=)
c.212_214delinsAAC (p.Gln71=)
c.*400_*402delinsAAC (n.*400_*402delinsAAC)
c.4+25324_4+25326delinsAAC (n.4+25324_4+25326delinsAAC)
c.-43-25337_-43-25335delinsAAC (n.-43-25337_-43-25335delinsAAC)
c.-99+25413_-99+25415delinsAAC (n.-99+25413_-99+25415delinsAAC)
n.600_602delinsAAC
n.641_643delinsAAC
17g.43099857T>ACA10580696BRCA1n.529A>T
c.465A>T (p.Gln155His)
c.462A>T (p.Gln154His)
c.387A>T (p.Gln129His)
c.324A>T (p.Gln108His)
c.-218-4997A>T (n.-218-4997A>T)
c.384A>T (p.Gln128His)
c.*379A>T (n.*379A>T)
n.705A>T
c.*339A>T (n.*339A>T)
c.*248A>T (n.*248A>T)
c.*251A>T (n.*251A>T)
c.185A>T
c.210A>T (p.Gln70His)
c.213A>T (p.Gln71His)
c.*401A>T (n.*401A>T)
c.4+25325A>T (n.4+25325A>T)
c.-43-25336A>T (n.-43-25336A>T)
c.-99+25414A>T (n.-99+25414A>T)
n.601A>T
n.642A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43099857T>CCA500124642BRCA1n.529A>G
c.465A>G (p.Gln155=)
c.462A>G (p.Gln154=)
c.387A>G (p.Gln129=)
c.324A>G (p.Gln108=)
c.-218-4997A>G (n.-218-4997A>G)
c.384A>G (p.Gln128=)
c.*379A>G (n.*379A>G)
n.705A>G
c.*339A>G (n.*339A>G)
c.*248A>G (n.*248A>G)
c.*251A>G (n.*251A>G)
c.185A>G
c.210A>G (p.Gln70=)
c.213A>G (p.Gln71=)
c.*401A>G (n.*401A>G)
c.4+25325A>G (n.4+25325A>G)
c.-43-25336A>G (n.-43-25336A>G)
c.-99+25414A>G (n.-99+25414A>G)
n.601A>G
n.642A>G
 ClinVar dbSNP gnomAD v4
17g.43099857T>GCA349681BRCA1n.529A>C
c.465A>C (p.Gln155His)
c.462A>C (p.Gln154His)
c.387A>C (p.Gln129His)
c.324A>C (p.Gln108His)
c.-218-4997A>C (n.-218-4997A>C)
c.384A>C (p.Gln128His)
c.*379A>C (n.*379A>C)
n.705A>C
c.*339A>C (n.*339A>C)
c.*248A>C (n.*248A>C)
c.*251A>C (n.*251A>C)
c.185A>C
c.210A>C (p.Gln70His)
c.213A>C (p.Gln71His)
c.*401A>C (n.*401A>C)
c.4+25325A>C (n.4+25325A>C)
c.-43-25336A>C (n.-43-25336A>C)
c.-99+25414A>C (n.-99+25414A>C)
n.601A>C
n.642A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43099857T=CA2260787748BRCA1n.529A=
c.465A= (p.Gln155=)
c.462A= (p.Gln154=)
c.387A= (p.Gln129=)
c.324A= (p.Gln108=)
c.-218-4997A= (n.-218-4997A=)
c.384A= (p.Gln128=)
c.*379A= (n.*379A=)
n.705A=
c.*339A= (n.*339A=)
c.*248A= (n.*248A=)
c.*251A= (n.*251A=)
c.185A=
c.210A= (p.Gln70=)
c.213A= (p.Gln71=)
c.*401A= (n.*401A=)
c.4+25325A= (n.4+25325A=)
c.-43-25336A= (n.-43-25336A=)
c.-99+25414A= (n.-99+25414A=)
n.601A=
n.642A=
17g.43099857_43099858delCA10586669BRCA1n.528_529del
c.464_465del (p.Gln155ProfsTer3)
c.461_462del (p.Gln154ProfsTer3)
c.386_387del (p.Gln129ProfsTer3)
c.323_324del (p.Gln108ProfsTer3)
c.-218-4998_-218-4997del (n.-218-4998_-218-4997del)
c.383_384del (p.Gln128ProfsTer3)
c.*378_*379del (n.*378_*379del)
n.704_705del
c.*338_*339del (n.*338_*339del)
c.*247_*248del (n.*247_*248del)
c.*250_*251del (n.*250_*251del)
c.184_185del
c.209_210del (p.Gln70ProfsTer3)
c.212_213del (p.Gln71ProfsTer3)
c.*400_*401del (n.*400_*401del)
c.4+25324_4+25325del (n.4+25324_4+25325del)
c.-43-25337_-43-25336del (n.-43-25337_-43-25336del)
c.-99+25413_-99+25414del (n.-99+25413_-99+25414del)
n.600_601del
n.641_642del
 ClinVar dbSNP
17g.43099858delCA002948BRCA1n.529del
c.465del (p.Gln155HisfsTer8)
c.462del (p.Gln154HisfsTer8)
c.387del (p.Gln129HisfsTer8)
c.324del (p.Gln108HisfsTer8)
c.-218-4997del (n.-218-4997del)
c.384del (p.Gln128HisfsTer8)
c.*379del (n.*379del)
n.705del
c.*339del (n.*339del)
c.*248del (n.*248del)
c.*251del (n.*251del)
c.185del
c.210del (p.Gln70HisfsTer8)
c.213del (p.Gln71HisfsTer8)
c.*401del (n.*401del)
c.4+25325del (n.4+25325del)
c.-43-25336del (n.-43-25336del)
c.-99+25414del (n.-99+25414del)
n.601del
n.642del
 ClinVar dbSNP
17g.43099858T>ACA10601205BRCA1n.528A>T
c.464A>T (p.Gln155Leu)
c.461A>T (p.Gln154Leu)
c.386A>T (p.Gln129Leu)
c.323A>T (p.Gln108Leu)
c.-218-4998A>T (n.-218-4998A>T)
c.383A>T (p.Gln128Leu)
c.*378A>T (n.*378A>T)
n.704A>T
c.*338A>T (n.*338A>T)
c.*247A>T (n.*247A>T)
c.*250A>T (n.*250A>T)
c.184A>T
c.209A>T (p.Gln70Leu)
c.212A>T (p.Gln71Leu)
c.*400A>T (n.*400A>T)
c.4+25324A>T (n.4+25324A>T)
c.-43-25337A>T (n.-43-25337A>T)
c.-99+25413A>T (n.-99+25413A>T)
n.600A>T
n.641A>T
17g.43099858T>CCA10601206BRCA1n.528A>G
c.464A>G (p.Gln155Arg)
c.461A>G (p.Gln154Arg)
c.386A>G (p.Gln129Arg)
c.323A>G (p.Gln108Arg)
c.-218-4998A>G (n.-218-4998A>G)
c.383A>G (p.Gln128Arg)
c.*378A>G (n.*378A>G)
n.704A>G
c.*338A>G (n.*338A>G)
c.*247A>G (n.*247A>G)
c.*250A>G (n.*250A>G)
c.184A>G
c.209A>G (p.Gln70Arg)
c.212A>G (p.Gln71Arg)
c.*400A>G (n.*400A>G)
c.4+25324A>G (n.4+25324A>G)
c.-43-25337A>G (n.-43-25337A>G)
c.-99+25413A>G (n.-99+25413A>G)
n.600A>G
n.641A>G
17g.43099858T>GCA10601207BRCA1n.528A>C
c.464A>C (p.Gln155Pro)
c.461A>C (p.Gln154Pro)
c.386A>C (p.Gln129Pro)
c.323A>C (p.Gln108Pro)
c.-218-4998A>C (n.-218-4998A>C)
c.383A>C (p.Gln128Pro)
c.*378A>C (n.*378A>C)
n.704A>C
c.*338A>C (n.*338A>C)
c.*247A>C (n.*247A>C)
c.*250A>C (n.*250A>C)
c.184A>C
c.209A>C (p.Gln70Pro)
c.212A>C (p.Gln71Pro)
c.*400A>C (n.*400A>C)
c.4+25324A>C (n.4+25324A>C)
c.-43-25337A>C (n.-43-25337A>C)
c.-99+25413A>C (n.-99+25413A>C)
n.600A>C
n.641A>C
17g.43099859G>ACA002941BRCA1n.527C>T
c.463C>T (p.Gln155Ter)
c.460C>T (p.Gln154Ter)
c.385C>T (p.Gln129Ter)
c.322C>T (p.Gln108Ter)
c.-218-4999C>T (n.-218-4999C>T)
c.382C>T (p.Gln128Ter)
c.*377C>T (n.*377C>T)
n.703C>T
c.*337C>T (n.*337C>T)
c.*246C>T (n.*246C>T)
c.*249C>T (n.*249C>T)
c.183C>T
c.208C>T (p.Gln70Ter)
c.211C>T (p.Gln71Ter)
c.*399C>T (n.*399C>T)
c.4+25323C>T (n.4+25323C>T)
c.-43-25338C>T (n.-43-25338C>T)
c.-99+25412C>T (n.-99+25412C>T)
n.599C>T
n.640C>T
 ClinVar dbSNP
17g.43099859G>CCA002940BRCA1n.527C>G
c.463C>G (p.Gln155Glu)
c.460C>G (p.Gln154Glu)
c.385C>G (p.Gln129Glu)
c.322C>G (p.Gln108Glu)
c.-218-4999C>G (n.-218-4999C>G)
c.382C>G (p.Gln128Glu)
c.*377C>G (n.*377C>G)
n.703C>G
c.*337C>G (n.*337C>G)
c.*246C>G (n.*246C>G)
c.*249C>G (n.*249C>G)
c.183C>G
c.208C>G (p.Gln70Glu)
c.211C>G (p.Gln71Glu)
c.*399C>G (n.*399C>G)
c.4+25323C>G (n.4+25323C>G)
c.-43-25338C>G (n.-43-25338C>G)
c.-99+25412C>G (n.-99+25412C>G)
n.599C>G
n.640C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43099859G=CA2260787749BRCA1n.527C=
c.463C= (p.Gln155=)
c.460C= (p.Gln154=)
c.385C= (p.Gln129=)
c.322C= (p.Gln108=)
c.-218-4999C= (n.-218-4999C=)
c.382C= (p.Gln128=)
c.*377C= (n.*377C=)
n.703C=
c.*337C= (n.*337C=)
c.*246C= (n.*246C=)
c.*249C= (n.*249C=)
c.183C=
c.208C= (p.Gln70=)
c.211C= (p.Gln71=)
c.*399C= (n.*399C=)
c.4+25323C= (n.4+25323C=)
c.-43-25338C= (n.-43-25338C=)
c.-99+25412C= (n.-99+25412C=)
n.599C=
n.640C=
17g.43099859G>TCA10601208BRCA1n.527C>A
c.463C>A (p.Gln155Lys)
c.460C>A (p.Gln154Lys)
c.385C>A (p.Gln129Lys)
c.322C>A (p.Gln108Lys)
c.-218-4999C>A (n.-218-4999C>A)
c.382C>A (p.Gln128Lys)
c.*377C>A (n.*377C>A)
n.703C>A
c.*337C>A (n.*337C>A)
c.*246C>A (n.*246C>A)
c.*249C>A (n.*249C>A)
c.183C>A
c.208C>A (p.Gln70Lys)
c.211C>A (p.Gln71Lys)
c.*399C>A (n.*399C>A)
c.4+25323C>A (n.4+25323C>A)
c.-43-25338C>A (n.-43-25338C>A)
c.-99+25412C>A (n.-99+25412C>A)
n.599C>A
n.640C>A
 dbSNP
17g.43099860G>ACA500124654BRCA1n.526C>T
c.462C>T (p.Val154=)
c.459C>T (p.Val153=)
c.384C>T (p.Val128=)
c.321C>T (p.Val107=)
c.-218-5000C>T (n.-218-5000C>T)
c.381C>T (p.Val127=)
c.*376C>T (n.*376C>T)
n.702C>T
c.*336C>T (n.*336C>T)
c.*245C>T (n.*245C>T)
c.*248C>T (n.*248C>T)
c.182C>T
c.207C>T (p.Val69=)
c.210C>T (p.Val70=)
c.*398C>T (n.*398C>T)
c.4+25322C>T (n.4+25322C>T)
c.-43-25339C>T (n.-43-25339C>T)
c.-99+25411C>T (n.-99+25411C>T)
n.598C>T
n.639C>T
 dbSNP
17g.43099860G>CCA500124656BRCA1n.526C>G
c.462C>G (p.Val154=)
c.459C>G (p.Val153=)
c.384C>G (p.Val128=)
c.321C>G (p.Val107=)
c.-218-5000C>G (n.-218-5000C>G)
c.381C>G (p.Val127=)
c.*376C>G (n.*376C>G)
n.702C>G
c.*336C>G (n.*336C>G)
c.*245C>G (n.*245C>G)
c.*248C>G (n.*248C>G)
c.182C>G
c.207C>G (p.Val69=)
c.210C>G (p.Val70=)
c.*398C>G (n.*398C>G)
c.4+25322C>G (n.4+25322C>G)
c.-43-25339C>G (n.-43-25339C>G)
c.-99+25411C>G (n.-99+25411C>G)
n.598C>G
n.639C>G
 dbSNP
17g.43099860G>TCA500124658BRCA1n.526C>A
c.462C>A (p.Val154=)
c.459C>A (p.Val153=)
c.384C>A (p.Val128=)
c.321C>A (p.Val107=)
c.-218-5000C>A (n.-218-5000C>A)
c.381C>A (p.Val127=)
c.*376C>A (n.*376C>A)
n.702C>A
c.*336C>A (n.*336C>A)
c.*245C>A (n.*245C>A)
c.*248C>A (n.*248C>A)
c.182C>A
c.207C>A (p.Val69=)
c.210C>A (p.Val70=)
c.*398C>A (n.*398C>A)
c.4+25322C>A (n.4+25322C>A)
c.-43-25339C>A (n.-43-25339C>A)
c.-99+25411C>A (n.-99+25411C>A)
n.598C>A
n.639C>A
 dbSNP
17g.43099861A=CA2260787750BRCA1n.525T=
c.461T= (p.Val154=)
c.458T= (p.Val153=)
c.383T= (p.Val128=)
c.320T= (p.Val107=)
c.-218-5001T= (n.-218-5001T=)
c.380T= (p.Val127=)
c.*375T= (n.*375T=)
n.701T=
c.*335T= (n.*335T=)
c.*244T= (n.*244T=)
c.*247T= (n.*247T=)
c.181T=
c.206T= (p.Val69=)
c.209T= (p.Val70=)
c.*397T= (n.*397T=)
c.4+25321T= (n.4+25321T=)
c.-43-25340T= (n.-43-25340T=)
c.-99+25410T= (n.-99+25410T=)
n.597T=
n.638T=
17g.43099861A>CCA10601209BRCA1n.525T>G
c.461T>G (p.Val154Gly)
c.458T>G (p.Val153Gly)
c.383T>G (p.Val128Gly)
c.320T>G (p.Val107Gly)
c.-218-5001T>G (n.-218-5001T>G)
c.380T>G (p.Val127Gly)
c.*375T>G (n.*375T>G)
n.701T>G
c.*335T>G (n.*335T>G)
c.*244T>G (n.*244T>G)
c.*247T>G (n.*247T>G)
c.181T>G
c.206T>G (p.Val69Gly)
c.209T>G (p.Val70Gly)
c.*397T>G (n.*397T>G)
c.4+25321T>G (n.4+25321T>G)
c.-43-25340T>G (n.-43-25340T>G)
c.-99+25410T>G (n.-99+25410T>G)
n.597T>G
n.638T>G
17g.43099861A>GCA10601210BRCA1n.525T>C
c.461T>C (p.Val154Ala)
c.458T>C (p.Val153Ala)
c.383T>C (p.Val128Ala)
c.320T>C (p.Val107Ala)
c.-218-5001T>C (n.-218-5001T>C)
c.380T>C (p.Val127Ala)
c.*375T>C (n.*375T>C)
n.701T>C
c.*335T>C (n.*335T>C)
c.*244T>C (n.*244T>C)
c.*247T>C (n.*247T>C)
c.181T>C
c.206T>C (p.Val69Ala)
c.209T>C (p.Val70Ala)
c.*397T>C (n.*397T>C)
c.4+25321T>C (n.4+25321T>C)
c.-43-25340T>C (n.-43-25340T>C)
c.-99+25410T>C (n.-99+25410T>C)
n.597T>C
n.638T>C
 ClinVar dbSNP
17g.43099861A>TCA10601211BRCA1n.525T>A
c.461T>A (p.Val154Asp)
c.458T>A (p.Val153Asp)
c.383T>A (p.Val128Asp)
c.320T>A (p.Val107Asp)
c.-218-5001T>A (n.-218-5001T>A)
c.380T>A (p.Val127Asp)
c.*375T>A (n.*375T>A)
n.701T>A
c.*335T>A (n.*335T>A)
c.*244T>A (n.*244T>A)
c.*247T>A (n.*247T>A)
c.181T>A
c.206T>A (p.Val69Asp)
c.209T>A (p.Val70Asp)
c.*397T>A (n.*397T>A)
c.4+25321T>A (n.4+25321T>A)
c.-43-25340T>A (n.-43-25340T>A)
c.-99+25410T>A (n.-99+25410T>A)
n.597T>A
n.638T>A
 dbSNP
17g.43099862C>ACA10601212BRCA1n.524G>T
c.460G>T (p.Val154Phe)
c.457G>T (p.Val153Phe)
c.382G>T (p.Val128Phe)
c.319G>T (p.Val107Phe)
c.-218-5002G>T (n.-218-5002G>T)
c.379G>T (p.Val127Phe)
c.*374G>T (n.*374G>T)
n.700G>T
c.*334G>T (n.*334G>T)
c.*243G>T (n.*243G>T)
c.*246G>T (n.*246G>T)
c.180G>T
c.205G>T (p.Val69Phe)
c.208G>T (p.Val70Phe)
c.*396G>T (n.*396G>T)
c.4+25320G>T (n.4+25320G>T)
c.-43-25341G>T (n.-43-25341G>T)
c.-99+25409G>T (n.-99+25409G>T)
n.596G>T
n.637G>T
17g.43099862C=CA2260787751BRCA1n.524G=
c.460G= (p.Val154=)
c.457G= (p.Val153=)
c.382G= (p.Val128=)
c.319G= (p.Val107=)
c.-218-5002G= (n.-218-5002G=)
c.379G= (p.Val127=)
c.*374G= (n.*374G=)
n.700G=
c.*334G= (n.*334G=)
c.*243G= (n.*243G=)
c.*246G= (n.*246G=)
c.180G=
c.205G= (p.Val69=)
c.208G= (p.Val70=)
c.*396G= (n.*396G=)
c.4+25320G= (n.4+25320G=)
c.-43-25341G= (n.-43-25341G=)
c.-99+25409G= (n.-99+25409G=)
n.596G=
n.637G=
17g.43099862C>GCA10601213BRCA1n.524G>C
c.460G>C (p.Val154Leu)
c.457G>C (p.Val153Leu)
c.382G>C (p.Val128Leu)
c.319G>C (p.Val107Leu)
c.-218-5002G>C (n.-218-5002G>C)
c.379G>C (p.Val127Leu)
c.*374G>C (n.*374G>C)
n.700G>C
c.*334G>C (n.*334G>C)
c.*243G>C (n.*243G>C)
c.*246G>C (n.*246G>C)
c.180G>C
c.205G>C (p.Val69Leu)
c.208G>C (p.Val70Leu)
c.*396G>C (n.*396G>C)
c.4+25320G>C (n.4+25320G>C)
c.-43-25341G>C (n.-43-25341G>C)
c.-99+25409G>C (n.-99+25409G>C)
n.596G>C
n.637G>C
17g.43099862C>TCA10601214BRCA1n.524G>A
c.460G>A (p.Val154Ile)
c.457G>A (p.Val153Ile)
c.382G>A (p.Val128Ile)
c.319G>A (p.Val107Ile)
c.-218-5002G>A (n.-218-5002G>A)
c.379G>A (p.Val127Ile)
c.*374G>A (n.*374G>A)
n.700G>A
c.*334G>A (n.*334G>A)
c.*243G>A (n.*243G>A)
c.*246G>A (n.*246G>A)
c.180G>A
c.205G>A (p.Val69Ile)
c.208G>A (p.Val70Ile)
c.*396G>A (n.*396G>A)
c.4+25320G>A (n.4+25320G>A)
c.-43-25341G>A (n.-43-25341G>A)
c.-99+25409G>A (n.-99+25409G>A)
n.596G>A
n.637G>A
 ClinVar dbSNP gnomAD v4

Number of alleles fetched