| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155236379C>T | CA221381 | GBA1 | c.1090G>A (p.Gly364Arg) c.943G>A (p.Gly315Arg) c.829G>A (p.Gly277Arg) n.81G>A n.340-91G>A n.695G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155236379C= | CA1141581084 | GBA1 | c.1090G= (p.Gly364=) c.943G= (p.Gly315=) c.829G= (p.Gly277=) n.81G= n.340-91G= n.695G= | dbSNP |