| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.161350208C>T | CA4089945 | PRKN | c.1167G>A (n.1167G>A) c.1048G>A (n.1048G>A) c.1289G>A (p.Gly430Asp) c.1370G>A n.674G>A n.925G>A c.716G>A (p.Gly239Asp) c.842G>A (p.Gly281Asp) c.1205G>A (p.Gly402Asp) c.*65G>A (n.*65G>A) c.422G>A (p.Gly141Asp) c.1286G>A (p.Gly429Asp) c.1403G>A (p.Gly468Asp) c.1049G>A (p.Gly350Asp) c.1052G>A (p.Gly351Asp) n.1481G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.161350208C= | CA1677459482 | PRKN | c.1167G= (n.1167G=) c.1048G= (n.1048G=) c.1289G= (p.Gly430=) c.1370G= n.674G= n.925G= c.716G= (p.Gly239=) c.842G= (p.Gly281=) c.1205G= (p.Gly402=) c.*65G= (n.*65G=) c.422G= (p.Gly141=) c.1286G= (p.Gly429=) c.1403G= (p.Gly468=) c.1049G= (p.Gly350=) c.1052G= (p.Gly351=) n.1481G= | dbSNP |