| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81578000G>A | CA115747 | GBE1 | c.1543C>T (p.Arg515Cys) c.1420C>T (p.Arg474Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81578000G>C | CA353684713 | GBE1 | c.1543C>G (p.Arg515Gly) c.1420C>G (p.Arg474Gly) | ClinVar dbSNP |
| 3 | g.81578000G= | CA1378698148 | GBE1 | c.1543C= (p.Arg515=) c.1420C= (p.Arg474=) | dbSNP |