| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155238144A>G | CA253079 | GBA1 | c.751T>C (p.Tyr251His) c.604T>C (p.Tyr202His) c.490T>C (p.Tyr164His) n.538T>C n.339+1829T>C n.356T>C n.374T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155238144A= | CA1141581089 | GBA1 | c.751T= (p.Tyr251=) c.604T= (p.Tyr202=) c.490T= (p.Tyr164=) n.538T= n.339+1829T= n.356T= n.374T= | dbSNP |