Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77683154C>G | CA413714748 | ATRX | c.2102G>C (p.Arg701Pro) c.1988G>C (p.Arg663Pro) c.*1730G>C (n.*1730G>C) c.2015G>C (p.Arg672Pro) c.1898G>C (p.Arg633Pro) c.2099G>C (p.Arg700Pro) c.1985G>C (p.Arg662Pro) c.1937G>C (p.Arg646Pro) c.1823G>C (p.Arg608Pro) n.2370G>C c.2012G>C (p.Arg671Pro) c.1982G>C (p.Arg661Pro) c.1934G>C (p.Arg645Pro) c.1901G>C (p.Arg634Pro) c.1871G>C (p.Arg624Pro) c.1868G>C (p.Arg623Pro) c.1820G>C (p.Arg607Pro) c.1784G>C (p.Arg595Pro) c.1781G>C (p.Arg594Pro) c.1736G>C (p.Arg579Pro) n.2327G>C | dbSNP |
X | g.77683154C>A | CA413714747 | ATRX | c.2102G>T (p.Arg701Leu) c.1988G>T (p.Arg663Leu) c.*1730G>T (n.*1730G>T) c.2015G>T (p.Arg672Leu) c.1898G>T (p.Arg633Leu) c.2099G>T (p.Arg700Leu) c.1985G>T (p.Arg662Leu) c.1937G>T (p.Arg646Leu) c.1823G>T (p.Arg608Leu) n.2370G>T c.2012G>T (p.Arg671Leu) c.1982G>T (p.Arg661Leu) c.1934G>T (p.Arg645Leu) c.1901G>T (p.Arg634Leu) c.1871G>T (p.Arg624Leu) c.1868G>T (p.Arg623Leu) c.1820G>T (p.Arg607Leu) c.1784G>T (p.Arg595Leu) c.1781G>T (p.Arg594Leu) c.1736G>T (p.Arg579Leu) n.2327G>T | dbSNP gnomAD v2 |
X | g.77683154C>T | CA236355 | ATRX | c.2102G>A (p.Arg701His) c.1988G>A (p.Arg663His) c.*1730G>A (n.*1730G>A) c.2015G>A (p.Arg672His) c.1898G>A (p.Arg633His) c.2099G>A (p.Arg700His) c.1985G>A (p.Arg662His) c.1937G>A (p.Arg646His) c.1823G>A (p.Arg608His) n.2370G>A c.2012G>A (p.Arg671His) c.1982G>A (p.Arg661His) c.1934G>A (p.Arg645His) c.1901G>A (p.Arg634His) c.1871G>A (p.Arg624His) c.1868G>A (p.Arg623His) c.1820G>A (p.Arg607His) c.1784G>A (p.Arg595His) c.1781G>A (p.Arg594His) c.1736G>A (p.Arg579His) n.2327G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |