| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.161785820G>T | CA151534335 | PRKN | c.701C>A (n.701C>A) c.582C>A (n.582C>A) c.823C>A (p.Arg275=) c.818C>A n.208C>A n.459C>A n.930C>A c.250C>A (p.Arg84=) c.376C>A (p.Arg126=) c.739C>A (p.Arg247=) c.586C>A (p.Arg196=) c.820C>A (p.Arg274=) c.937C>A (p.Arg313=) c.583C>A (p.Arg195=) n.929C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.161785820G>A | CA254086 | PRKN | c.701C>T (n.701C>T) c.582C>T (n.582C>T) c.823C>T (p.Arg275Trp) c.818C>T n.208C>T n.459C>T n.930C>T c.250C>T (p.Arg84Trp) c.376C>T (p.Arg126Trp) c.739C>T (p.Arg247Trp) c.586C>T (p.Arg196Trp) c.820C>T (p.Arg274Trp) c.937C>T (p.Arg313Trp) c.583C>T (p.Arg195Trp) n.929C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |