| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155235841G>C | CA253116 | GBA1 | c.1228C>G (p.Leu410Val) c.1081C>G (p.Leu361Val) c.967C>G (p.Leu323Val) n.219C>G n.387C>G | ClinVar dbSNP |
| 1 | g.155235841G= | CA1141581079 | GBA1 | c.1228C= (p.Leu410=) c.1081C= (p.Leu361=) c.967C= (p.Leu323=) n.219C= n.387C= | dbSNP |