| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81577972C>A | CA353684653 | GBE1 | c.1571G>T (p.Arg524Leu) c.1448G>T (p.Arg483Leu) | dbSNP |
| 3 | g.81577972C>T | CA115753 | GBE1 | c.1571G>A (p.Arg524Gln) c.1448G>A (p.Arg483Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.81577972C= | CA1378698135 | GBE1 | c.1571G= (p.Arg524=) c.1448G= (p.Arg483=) | dbSNP |