Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.61776461_61776462del | CA658798935 | BRIP1 | c.1620_1621del (n.1620_1621del) c.2038_2039del (p.Leu680ValfsTer?) c.1531_1532del (p.Leu511ValfsTer?) n.778_779del n.1117_1118del c.*1464_*1465del (n.*1464_*1465del) n.7915_7916del c.1697_1698del (n.1697_1698del) c.1816_1817del (p.Leu606ValfsTer?) c.2098_2099del (p.Leu700ValfsTer?) n.168_169del n.451_452del c.103_104del (p.Leu35ValfsTer?) c.731_732del n.120_121del c.21_22del c.1978_1979del (p.Leu660ValfsTer?) c.1897_1898del (p.Leu633ValfsTer?) c.1615_1616del (p.Leu539ValfsTer?) c.1555_1556del (p.Leu519ValfsTer?) c.184_185del (p.Leu62ValfsTer?) | ClinVar dbSNP |
17 | g.61776461_61776462dup | CA157685 | BRIP1 | c.1620_1621dup (n.1620_1621dup) c.2038_2039dup (p.Leu680PhefsTer9) c.1531_1532dup (p.Leu511PhefsTer9) n.778_779dup n.1117_1118dup c.*1464_*1465dup (n.*1464_*1465dup) n.7915_7916dup c.1697_1698dup (n.1697_1698dup) c.1816_1817dup (p.Leu606PhefsTer9) c.2098_2099dup (p.Leu700PhefsTer9) n.168_169dup n.451_452dup c.103_104dup (p.Leu35PhefsTer9) c.731_732dup n.120_121dup c.21_22dup c.1978_1979dup (p.Leu660PhefsTer9) c.1897_1898dup (p.Leu633PhefsTer9) c.1615_1616dup (p.Leu539PhefsTer9) c.1555_1556dup (p.Leu519PhefsTer9) c.184_185dup (p.Leu62PhefsTer9) | ClinVar dbSNP gnomAD v3 gnomAD v4 |