| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.161973317G>C | CA254077 | PRKN | c.597C>G (n.597C>G) c.478C>G (n.478C>G) c.719C>G (p.Thr240Arg) c.714C>G n.737C>G n.355C>G n.826C>G c.146C>G (p.Thr49Arg) c.272C>G (p.Thr91Arg) c.635C>G (p.Thr212Arg) c.482C>G (p.Thr161Arg) c.716C>G (p.Thr239Arg) c.833C>G (p.Thr278Arg) c.479C>G (p.Thr160Arg) n.825C>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.161973317G>A | CA254089 | PRKN | c.597C>T (n.597C>T) c.478C>T (n.478C>T) c.719C>T (p.Thr240Met) c.714C>T n.737C>T n.355C>T n.826C>T c.146C>T (p.Thr49Met) c.272C>T (p.Thr91Met) c.635C>T (p.Thr212Met) c.482C>T (p.Thr161Met) c.716C>T (p.Thr239Met) c.833C>T (p.Thr278Met) c.479C>T (p.Thr160Met) n.825C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.161973317G>T | CA4090265 | PRKN | c.597C>A (n.597C>A) c.478C>A (n.478C>A) c.719C>A (p.Thr240Lys) c.714C>A n.737C>A n.355C>A n.826C>A c.146C>A (p.Thr49Lys) c.272C>A (p.Thr91Lys) c.635C>A (p.Thr212Lys) c.482C>A (p.Thr161Lys) c.716C>A (p.Thr239Lys) c.833C>A (p.Thr278Lys) c.479C>A (p.Thr160Lys) n.825C>A | dbSNP ExAC gnomAD v2 |