| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.161785793C>G | CA4090202 | PRKN | c.728G>C (n.728G>C) c.609G>C (n.609G>C) c.850G>C (p.Gly284Arg) c.845G>C n.235G>C n.486G>C n.957G>C c.277G>C (p.Gly93Arg) c.403G>C (p.Gly135Arg) c.766G>C (p.Gly256Arg) c.613G>C (p.Gly205Arg) c.847G>C (p.Gly283Arg) c.964G>C (p.Gly322Arg) c.610G>C (p.Gly204Arg) n.956G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.161785793C= | CA1677680095 | PRKN | c.728G= (n.728G=) c.609G= (n.609G=) c.850G= (p.Gly284=) c.845G= n.235G= n.486G= n.957G= c.277G= (p.Gly93=) c.403G= (p.Gly135=) c.766G= (p.Gly256=) c.613G= (p.Gly205=) c.847G= (p.Gly283=) c.964G= (p.Gly322=) c.610G= (p.Gly204=) n.956G= | dbSNP |