| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17000107C>T | CA276126 | ATP13A2 | c.943G>A (p.Gly315Arg) c.928G>A (p.Gly310Arg) n.551G>A n.82G>A c.103G>A (p.Gly35Arg) c.866G>A c.82G>A (p.Gly28Arg) c.940G>A (p.Gly314Arg) c.916G>A (p.Gly306Arg) c.925G>A (p.Gly309Arg) c.901G>A (p.Gly301Arg) c.913G>A (p.Gly305Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.17000107C= | CA1142368882 | ATP13A2 | c.943G= (p.Gly315=) c.928G= (p.Gly310=) n.551G= n.82G= c.103G= (p.Gly35=) c.866G= c.82G= (p.Gly28=) c.940G= (p.Gly314=) c.916G= (p.Gly306=) c.925G= (p.Gly309=) c.901G= (p.Gly301=) c.913G= (p.Gly305=) | dbSNP |