| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626676C>T | CA10324926 | ARSA | c.769G>A (p.Asp257Asn) c.511G>A (p.Asp171Asn) n.1346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626676C>G | CA341708 | ARSA | c.769G>C (p.Asp257His) c.511G>C (p.Asp171His) n.1346G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626676C= | CA2410959182 | ARSA | c.769G= (p.Asp257=) c.511G= (p.Asp171=) n.1346G= | dbSNP |