| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155236416C>A | CA253092 | GBA1 | c.1053G>T (p.Trp351Cys) c.906G>T (p.Trp302Cys) c.792G>T (p.Trp264Cys) n.44G>T n.340-128G>T n.658G>T n.676G>T | ClinVar dbSNP |
| 1 | g.155236416C= | CA1141581085 | GBA1 | c.1053G= (p.Trp351=) c.906G= (p.Trp302=) c.792G= (p.Trp264=) n.44G= n.340-128G= n.658G= n.676G= | dbSNP |