| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16988455C>T | CA264800 | ATP13A2 | c.2629G>A (p.Gly877Arg) c.2497G>A (p.Gly833Arg) c.2614G>A (p.Gly872Arg) n.503G>A c.217G>A (p.Gly73Arg) c.2626G>A (p.Gly876Arg) c.2602G>A (p.Gly868Arg) c.2569G>A (p.Gly857Arg) c.2512G>A (p.Gly838Arg) c.2611G>A (p.Gly871Arg) c.2587G>A (p.Gly863Arg) c.2422G>A (p.Gly808Arg) c.2584G>A (p.Gly862Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16988455C= | CA1142007409 | ATP13A2 | c.2629G= (p.Gly877=) c.2497G= (p.Gly833=) c.2614G= (p.Gly872=) n.503G= c.217G= (p.Gly73=) c.2626G= (p.Gly876=) c.2602G= (p.Gly868=) c.2569G= (p.Gly857=) c.2512G= (p.Gly838=) c.2611G= (p.Gly871=) c.2587G= (p.Gly863=) c.2422G= (p.Gly808=) c.2584G= (p.Gly862=) | dbSNP |