| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.161973403T>A | CA254087 | PRKN | c.511A>T (n.511A>T) c.392A>T (n.392A>T) c.633A>T (p.Lys211Asn) c.628A>T n.651A>T n.269A>T n.740A>T c.60A>T (p.Lys20Asn) c.186A>T (p.Lys62Asn) c.549A>T (p.Lys183Asn) c.396A>T (p.Lys132Asn) c.630A>T (p.Lys210Asn) c.747A>T (p.Lys249Asn) c.393A>T (p.Lys131Asn) n.739A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.161973403T= | CA1677783381 | PRKN | c.511A= (n.511A=) c.392A= (n.392A=) c.633A= (p.Lys211=) c.628A= n.651A= n.269A= n.740A= c.60A= (p.Lys20=) c.186A= (p.Lys62=) c.549A= (p.Lys183=) c.396A= (p.Lys132=) c.630A= (p.Lys210=) c.747A= (p.Lys249=) c.393A= (p.Lys131=) n.739A= | dbSNP |