| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16996008C>G | CA251716 | ATP13A2 | c.1510G>C (p.Gly504Arg) c.1495G>C (p.Gly499Arg) n.1118G>C n.538G>C c.187G>C (p.Gly63Arg) c.538G>C (p.Gly180Arg) c.1507G>C (p.Gly503Arg) c.1483G>C (p.Gly495Arg) c.1492G>C (p.Gly498Arg) c.1468G>C (p.Gly490Arg) c.1480G>C (p.Gly494Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.16996008C= | CA1141580613 | ATP13A2 | c.1510G= (p.Gly504=) c.1495G= (p.Gly499=) n.1118G= n.538G= c.187G= (p.Gly63=) c.538G= (p.Gly180=) c.1507G= (p.Gly503=) c.1483G= (p.Gly495=) c.1492G= (p.Gly498=) c.1468G= (p.Gly490=) c.1480G= (p.Gly494=) | dbSNP |
| 1 | g.16996008C>T | CA338251861 | ATP13A2 | c.1510G>A (p.Gly504Arg) c.1495G>A (p.Gly499Arg) n.1118G>A n.538G>A c.187G>A (p.Gly63Arg) c.538G>A (p.Gly180Arg) c.1507G>A (p.Gly503Arg) c.1483G>A (p.Gly495Arg) c.1492G>A (p.Gly498Arg) c.1468G>A (p.Gly490Arg) c.1480G>A (p.Gly494Arg) | dbSNP gnomAD v4 |