| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626228C>T | CA412174737 | ARSA | c.905G>A (p.Cys302Tyr) c.647G>A (p.Cys216Tyr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626228C>A | CA116011 | ARSA | c.905G>T (p.Cys302Phe) c.647G>T (p.Cys216Phe) | ClinVar dbSNP |
| 22 | g.50626228C= | CA2410958926 | ARSA | c.905G= (p.Cys302=) c.647G= (p.Cys216=) | dbSNP |