| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17004399G>A | CA270165 | ATP13A2 | c.490C>T (p.Arg164Trp) c.475C>T (p.Arg159Trp) c.209C>T c.449C>T c.413C>T c.202C>T (p.Arg68Trp) c.-372C>T (n.-372C>T) c.487C>T (p.Arg163Trp) c.472C>T (p.Arg158Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17004399G= | CA1143363610 | ATP13A2 | c.490C= (p.Arg164=) c.475C= (p.Arg159=) c.209C= c.449C= c.413C= c.202C= (p.Arg68=) c.-372C= (n.-372C=) c.487C= (p.Arg163=) c.472C= (p.Arg158=) | dbSNP |