| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155238270G>A | CA221403 | GBA1 | c.625C>T (p.Arg209Cys) c.478C>T (p.Arg160Cys) c.364C>T (p.Arg122Cys) n.412C>T n.339+1703C>T n.230C>T n.963C>T n.248C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155238270G= | CA1144233120 | GBA1 | c.625C= (p.Arg209=) c.478C= (p.Arg160=) c.364C= (p.Arg122=) n.412C= n.339+1703C= n.230C= n.963C= n.248C= | dbSNP |