| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16993828G>A | CA16043959 | ATP13A2 | c.1550C>T (p.Thr517Ile) c.1535C>T (p.Thr512Ile) c.220-1247C>T (n.220-1247C>T) c.1547C>T (p.Thr516Ile) c.1523C>T (p.Thr508Ile) c.1532C>T (p.Thr511Ile) c.1508C>T (p.Thr503Ile) c.1543-1247C>T (n.1543-1247C>T) c.1505C>T (p.Thr502Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.16993828G= | CA1156027104 | ATP13A2 | c.1550C= (p.Thr517=) c.1535C= (p.Thr512=) c.220-1247C= (n.220-1247C=) c.1547C= (p.Thr516=) c.1523C= (p.Thr508=) c.1532C= (p.Thr511=) c.1508C= (p.Thr503=) c.1543-1247C= (n.1543-1247C=) c.1505C= (p.Thr502=) | dbSNP |