| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81642787T>G | CA115743 | GBE1 | c.986A>C (p.Tyr329Ser) c.863A>C (p.Tyr288Ser) n.536A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642787T>C | CA2499826 | GBE1 | c.986A>G (p.Tyr329Cys) c.863A>G (p.Tyr288Cys) n.536A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642787T= | CA1378708445 | GBE1 | c.986A= (p.Tyr329=) c.863A= (p.Tyr288=) n.536A= | dbSNP |