Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43094557_43101117del | CA16043351 | BRCA1 | n.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 |
17 | g.43095869_43099880del | CA1139655896 | BRCA1 | n.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 |
17 | g.43096459_43103875del | CA2580094083 | BRCA1 | n.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 |
17 | g.43096738_43100702del | CA16043352 | BRCA1 | n.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 |
17 | g.43097246_43099882del | CA2580061393 | BRCA1 | n.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 |
17 | g.43099071_43102393dup | CA2580094144 | BRCA1 | n.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 |
17 | g.43099488_43099850del | CA2499224596 | BRCA1 | n.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 |
17 | g.43099552_43101009del | CA10602602 | BRCA1 | n.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 |
17 | g.43099566_43099786delinsACCATGCCTGGCCTCTTTTGCTCCCTTTTTAAAGTAAGATTCTTCAAGGTGA | CA2582342178 | BRCA1 | n.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 |
17 | g.43099608_43099786delinsGGGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGT | CA2260787576 | BRCA1 | n.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 | |
17 | g.43099609_43099786delinsA | CA913188969 | BRCA1 | n.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 |
17 | g.43099609_43099786delinsGGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGT | CA2260787577 | BRCA1 | n.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 | |
17 | g.43099610_43099786del | CA658798863 | BRCA1 | n.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 |
17 | g.43099754_43099758delinsTAAAA | CA2260787638 | BRCA1 | n.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 | |
17 | g.43099755A= | CA2260787640 | BRCA1 | n.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= | |
17 | g.43099755A>T | CA983888470 | BRCA1 | n.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 |
17 | g.43099760dup | CA2260787639 | BRCA1 | n.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 |
17 | g.43099760del | CA2580094148 | BRCA1 | n.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 |
17 | g.43099758_43099760del | CA626078789 | BRCA1 | n.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 |
17 | g.43099757_43099760del | CA772205911 | BRCA1 | n.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 |
17 | g.43099756A= | CA2260787641 | BRCA1 | n.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= | |
17 | g.43099756A>C | CA2733663582 | BRCA1 | n.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 |
17 | g.43099756A>G | CA626078792 | BRCA1 | n.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 |
17 | g.43099757A>G | CA2499224597 | BRCA1 | n.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 |
17 | g.43099759A= | CA2260787643 | BRCA1 | n.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= | |
17 | g.43099759A>C | CA915950144 | BRCA1 | n.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 |
17 | g.43099759A>G | CA2260787644 | BRCA1 | n.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 |
17 | g.43099759A>T | CA2733677465 | BRCA1 | n.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 |
17 | g.43099759_43099761delinsAAC | CA2260787642 | BRCA1 | n.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 | |
17 | g.43099760A>G | CA2499224598 | BRCA1 | n.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 |
17 | g.43099760A>T | CA2733925259 | BRCA1 | n.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 |
17 | g.43099760_43099761del | CA645373208 | BRCA1 | n.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 |
17 | g.43099760_43099761delinsAC | CA2260787645 | BRCA1 | n.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 | |
17 | g.43099761C>A | CA2733651177 | BRCA1 | n.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 |
17 | g.43099761C= | CA2260787646 | BRCA1 | n.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= | |
17 | g.43099761C>G | CA2638065344 | BRCA1 | n.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 |
17 | g.43099761C>T | CA16608461 | BRCA1 | n.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 |
17 | g.43099762del | CA003631 | BRCA1 | n.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 |
17 | g.43099762C= | CA2260787647 | BRCA1 | n.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= | |
17 | g.43099762C>G | CA2733647728 | BRCA1 | n.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 |
17 | g.43099762C>T | CA056310 | BRCA1 | n.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 |
17 | g.43099763T>C | CA626078807 | BRCA1 | n.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 |
17 | g.43099763T>G | CA2576282686 | BRCA1 | n.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 |
17 | g.43099763T= | CA2260787648 | BRCA1 | n.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= | |
17 | g.43099764G>A | CA2733693694 | BRCA1 | n.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 |
17 | g.43099764G>C | CA2733693693 | BRCA1 | n.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 |
17 | g.43099764G= | CA2260787649 | BRCA1 | n.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= | |
17 | g.43099764G>T | CA913188970 | BRCA1 | n.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 |
17 | g.43099765A>G | CA2733925263 | BRCA1 | n.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 |
17 | g.43099765A>T | CA2733925261 | BRCA1 | n.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 |