| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626265G>A | CA278036 | ARSA | c.868C>T (p.Arg290Cys) c.610C>T (p.Arg204Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626265G>C | CA412175055 | ARSA | c.868C>G (p.Arg290Gly) c.610C>G (p.Arg204Gly) | ClinVar dbSNP |
| 22 | g.50626265G= | CA2410958954 | ARSA | c.868C= (p.Arg290=) c.610C= (p.Arg204=) | dbSNP |