| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626202C>G | CA412174550 | ARSA | c.931G>C (p.Gly311Arg) c.673G>C (p.Gly225Arg) | ClinVar dbSNP |
| 22 | g.50626202C>A | CA412174553 | ARSA | c.931G>T (p.Gly311Cys) c.673G>T (p.Gly225Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626202C>T | CA115967 | ARSA | c.931G>A (p.Gly311Ser) c.673G>A (p.Gly225Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |