Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43093574_43093577del | CA001296 | BRCA1 | n.2022_2025del c.1958_1961del (p.Lys653SerfsTer?) c.1832_1835del (p.Lys611SerfsTer?) c.1955_1958del (p.Lys652SerfsTer?) c.1880_1883del (p.Lys627SerfsTer?) c.784+1171_784+1174del (n.784+1171_784+1174del) c.646+1171_646+1174del (n.646+1171_646+1174del) c.1070_1073del (p.Lys357SerfsTer?) c.1835_1838del (p.Lys612SerfsTer?) c.1817_1820del (p.Lys606SerfsTer?) c.664+1171_664+1174del (n.664+1171_664+1174del) c.706+1171_706+1174del (n.706+1171_706+1174del) c.670+2273_670+2276del (n.670+2273_670+2276del) c.1309_1312del c.*1741_*1744del (n.*1741_*1744del) c.787+1171_787+1174del (n.787+1171_787+1174del) c.409+1171_409+1174del (n.409+1171_409+1174del) c.412+1171_412+1174del (n.412+1171_412+1174del) c.5-29622_5-29619del (n.5-29622_5-29619del) c.-43-19052_-43-19049del (n.-43-19052_-43-19049del) c.-99+31698_-99+31701del (n.-99+31698_-99+31701del) n.2094_2097del n.2135_2138del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43093576_43093577del | CA001301 | BRCA1 | n.2024_2025del c.1960_1961del (p.Lys654ValfsTer18) c.1834_1835del (p.Lys612ValfsTer18) c.1957_1958del (p.Lys653ValfsTer18) c.1882_1883del (p.Lys628ValfsTer18) c.784+1173_784+1174del (n.784+1173_784+1174del) c.646+1173_646+1174del (n.646+1173_646+1174del) c.1072_1073del (p.Lys358ValfsTer18) c.1837_1838del (p.Lys613ValfsTer18) c.1819_1820del (p.Lys607ValfsTer18) c.664+1173_664+1174del (n.664+1173_664+1174del) c.706+1173_706+1174del (n.706+1173_706+1174del) c.670+2275_670+2276del (n.670+2275_670+2276del) c.1311_1312del c.*1743_*1744del (n.*1743_*1744del) c.787+1173_787+1174del (n.787+1173_787+1174del) c.409+1173_409+1174del (n.409+1173_409+1174del) c.412+1173_412+1174del (n.412+1173_412+1174del) c.5-29620_5-29619del (n.5-29620_5-29619del) c.-43-19050_-43-19049del (n.-43-19050_-43-19049del) c.-99+31700_-99+31701del (n.-99+31700_-99+31701del) n.2096_2097del n.2137_2138del | ClinVar dbSNP |
17 | g.43093577del | CA001306 | BRCA1 | n.2025del c.1961del (p.Lys654SerfsTer?) c.1835del (p.Lys612SerfsTer?) c.1958del (p.Lys653SerfsTer?) c.1883del (p.Lys628SerfsTer?) c.784+1174del (n.784+1174del) c.646+1174del (n.646+1174del) c.1073del (p.Lys358SerfsTer?) c.1838del (p.Lys613SerfsTer?) c.1820del (p.Lys607SerfsTer?) c.664+1174del (n.664+1174del) c.706+1174del (n.706+1174del) c.670+2276del (n.670+2276del) c.1312del c.*1744del (n.*1744del) c.787+1174del (n.787+1174del) c.409+1174del (n.409+1174del) c.412+1174del (n.412+1174del) c.5-29619del (n.5-29619del) c.-43-19049del (n.-43-19049del) c.-99+31701del (n.-99+31701del) n.2097del n.2138del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.43093577dup | CA001304 | BRCA1 | n.2025dup c.1961dup (p.Tyr655ValfsTer18) c.1835dup (p.Tyr613ValfsTer18) c.1958dup (p.Tyr654ValfsTer18) c.1883dup (p.Tyr629ValfsTer18) c.784+1174dup (n.784+1174dup) c.646+1174dup (n.646+1174dup) c.1073dup (p.Tyr359ValfsTer18) c.1838dup (p.Tyr614ValfsTer18) c.1820dup (p.Tyr608ValfsTer18) c.664+1174dup (n.664+1174dup) c.706+1174dup (n.706+1174dup) c.670+2276dup (n.670+2276dup) c.*1744dup (n.*1744dup) c.787+1174dup (n.787+1174dup) c.409+1174dup (n.409+1174dup) c.412+1174dup (n.412+1174dup) c.5-29619dup (n.5-29619dup) c.-43-19049dup (n.-43-19049dup) c.-99+31701dup (n.-99+31701dup) n.2097dup n.2138dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |