| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155235726T>A | CA253061 | GBA1 | c.1343A>T (p.Asp448Val) c.1196A>T (p.Asp399Val) c.1082A>T (p.Asp361Val) n.110A>T n.334A>T n.502A>T | ClinVar dbSNP |
| 1 | g.155235726T= | CA1141039915 | GBA1 | c.1343A= (p.Asp448=) c.1196A= (p.Asp399=) c.1082A= (p.Asp361=) n.110A= n.334A= n.502A= | dbSNP |