| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.161360169G>A | CA4089979 | PRKN | c.1082C>T (n.1082C>T) c.963C>T (n.963C>T) c.1204C>T (p.Arg402Cys) c.1285C>T n.589C>T n.840C>T c.631C>T (p.Arg211Cys) c.757C>T (p.Arg253Cys) c.1120C>T (p.Arg374Cys) c.*62-9958C>T (n.*62-9958C>T) c.337C>T (p.Arg113Cys) c.1201C>T (p.Arg401Cys) c.1318C>T (p.Arg440Cys) c.964C>T (p.Arg322Cys) c.967C>T (p.Arg323Cys) n.1396C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.161360169G= | CA1677492743 | PRKN | c.1082C= (n.1082C=) c.963C= (n.963C=) c.1204C= (p.Arg402=) c.1285C= n.589C= n.840C= c.631C= (p.Arg211=) c.757C= (p.Arg253=) c.1120C= (p.Arg374=) c.*62-9958C= (n.*62-9958C=) c.337C= (p.Arg113=) c.1201C= (p.Arg401=) c.1318C= (p.Arg440=) c.964C= (p.Arg322=) c.967C= (p.Arg323=) n.1396C= | dbSNP |