| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.130996750C>T | CA16604815 | ATP2C1 | c.2197C>T (p.Gln733Ter) c.2182C>T (p.Gln728Ter) c.2058C>T c.2149C>T (p.Gln717Ter) c.2299C>T (p.Gln767Ter) c.99-3C>T (n.99-3C>T) c.750C>T n.2367C>T c.2128C>T (p.Gln710Ter) c.1363C>T (p.Gln455Ter) | ClinVar dbSNP |
| 3 | g.130996750C= | CA1401882875 | ATP2C1 | c.2197C= (p.Gln733=) c.2182C= (p.Gln728=) c.2058C= c.2149C= (p.Gln717=) c.2299C= (p.Gln767=) c.99-3C= (n.99-3C=) c.750C= n.2367C= c.2128C= (p.Gln710=) c.1363C= (p.Gln455=) | dbSNP |