| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155235772C>A | CA253059 | GBA1 | c.1297G>T (p.Val433Leu) c.1150G>T (p.Val384Leu) c.1036G>T (p.Val346Leu) n.64G>T n.288G>T n.456G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155235772C= | CA1141188038 | GBA1 | c.1297G= (p.Val433=) c.1150G= (p.Val384=) c.1036G= (p.Val346=) n.64G= n.288G= n.456G= | dbSNP |