| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17004805G>A | CA16043960 | ATP13A2 | c.364C>T (p.Gln122Ter) c.98C>T c.341C>T c.290C>T c.76C>T (p.Gln26Ter) c.-483C>T (n.-483C>T) | ClinVar dbSNP |
| 1 | g.17004805G>T | CA338263559 | ATP13A2 | c.364C>A (p.Gln122Lys) c.98C>A c.341C>A c.290C>A c.76C>A (p.Gln26Lys) c.-483C>A (n.-483C>A) | dbSNP gnomAD v4 |
| 1 | g.17004805G= | CA1156072579 | ATP13A2 | c.364C= (p.Gln122=) c.98C= c.341C= c.290C= c.76C= (p.Gln26=) c.-483C= (n.-483C=) | dbSNP |