| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626207T>A | CA412174579 | ARSA | c.926A>T (p.Glu309Val) c.668A>T (p.Glu223Val) | ClinVar dbSNP |
| 22 | g.50626207T>C | CA412174585 | ARSA | c.926A>G (p.Glu309Gly) c.668A>G (p.Glu223Gly) | ClinVar dbSNP |
| 22 | g.50626207T= | CA2410958915 | ARSA | c.926A= (p.Glu309=) c.668A= (p.Glu223=) | dbSNP |