| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627338G>A | CA115960 | ARSA | c.293C>T (p.Ser98Phe) c.35C>T (p.Ser12Phe) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627338G= | CA2410959561 | ARSA | c.293C= (p.Ser98=) c.35C= (p.Ser12=) n.684C= | dbSNP |
| 22 | g.50627338G>C | CA412181539 | ARSA | c.293C>G (p.Ser98Cys) c.35C>G (p.Ser12Cys) n.684C>G | dbSNP |