| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626195C>T | CA219086 | ARSA | c.938G>A (p.Arg313Gln) c.680G>A (p.Arg227Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626195C= | CA2410958907 | ARSA | c.938G= (p.Arg313=) c.680G= (p.Arg227=) | dbSNP |
| 22 | g.50626195C>G | CA412174511 | ARSA | c.938G>C (p.Arg313Pro) c.680G>C (p.Arg227Pro) | dbSNP |
| 22 | g.50626195C>A | CA412174508 | ARSA | c.938G>T (p.Arg313Leu) c.680G>T (p.Arg227Leu) | ClinVar dbSNP gnomAD v4 |