| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155236277G>A | CA221386 | GBA1 | c.1192C>T (p.Arg398Ter) c.1045C>T (p.Arg349Ter) c.931C>T (p.Arg311Ter) n.183C>T n.351C>T n.797C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.155236277G= | CA1141581081 | GBA1 | c.1192C= (p.Arg398=) c.1045C= (p.Arg349=) c.931C= (p.Arg311=) n.183C= n.351C= n.797C= | dbSNP |
| 1 | g.155236277G>C | CA342714943 | GBA1 | c.1192C>G (p.Arg398Gly) c.1045C>G (p.Arg349Gly) c.931C>G (p.Arg311Gly) n.183C>G n.351C>G n.797C>G | dbSNP gnomAD v4 |