| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16988207C>A | CA636704 | ATP13A2 | c.2790G>T (p.Ser930=) c.2658G>T (p.Ser886=) c.2775G>T (p.Ser925=) n.664G>T c.378G>T (p.Ser126=) c.2787G>T (p.Ser929=) c.2763G>T (p.Ser921=) c.2730G>T (p.Ser910=) c.2673G>T (p.Ser891=) c.2772G>T (p.Ser924=) c.2748G>T (p.Ser916=) c.2583G>T (p.Ser861=) c.2745G>T (p.Ser915=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16988207C>T | CA151952 | ATP13A2 | c.2790G>A (p.Ser930=) c.2658G>A (p.Ser886=) c.2775G>A (p.Ser925=) n.664G>A c.378G>A (p.Ser126=) c.2787G>A (p.Ser929=) c.2763G>A (p.Ser921=) c.2730G>A (p.Ser910=) c.2673G>A (p.Ser891=) c.2772G>A (p.Ser924=) c.2748G>A (p.Ser916=) c.2583G>A (p.Ser861=) c.2745G>A (p.Ser915=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |