| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627218G>C | CA412180391 | ARSA | c.413C>G (p.Pro138Arg) c.155C>G (p.Pro52Arg) n.804C>G | ClinVar dbSNP |
| 22 | g.50627218G>A | CA115977 | ARSA | c.413C>T (p.Pro138Leu) c.155C>T (p.Pro52Leu) n.804C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627218G>T | CA412180394 | ARSA | c.413C>A (p.Pro138His) c.155C>A (p.Pro52His) n.804C>A | ClinVar dbSNP |