| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16996262G>A | CA16043961 | ATP13A2 | c.1345C>T (p.Arg449Ter) c.1330C>T (p.Arg444Ter) n.953C>T n.373C>T c.22C>T (p.Arg8Ter) c.487C>T (p.Arg163Ter) n.433C>T c.373C>T (p.Arg125Ter) c.1342C>T (p.Arg448Ter) c.1318C>T (p.Arg440Ter) c.1327C>T (p.Arg443Ter) c.1303C>T (p.Arg435Ter) c.1315C>T (p.Arg439Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16996262G>C | CA338253127 | ATP13A2 | c.1345C>G (p.Arg449Gly) c.1330C>G (p.Arg444Gly) n.953C>G n.373C>G c.22C>G (p.Arg8Gly) c.487C>G (p.Arg163Gly) n.433C>G c.373C>G (p.Arg125Gly) c.1342C>G (p.Arg448Gly) c.1318C>G (p.Arg440Gly) c.1327C>G (p.Arg443Gly) c.1303C>G (p.Arg435Gly) c.1315C>G (p.Arg439Gly) | ClinVar dbSNP |
| 1 | g.16996262G= | CA1156031097 | ATP13A2 | c.1345C= (p.Arg449=) c.1330C= (p.Arg444=) n.953C= n.373C= c.22C= (p.Arg8=) c.487C= (p.Arg163=) n.433C= c.373C= (p.Arg125=) c.1342C= (p.Arg448=) c.1318C= (p.Arg440=) c.1327C= (p.Arg443=) c.1303C= (p.Arg435=) c.1315C= (p.Arg439=) | dbSNP |