| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625675G>A | CA115991 | ARSA | c.1114C>T (p.Arg372Trp) c.856C>T (p.Arg286Trp) c.1108-211C>T (n.1108-211C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625675G>C | CA412170771 | ARSA | c.1114C>G (p.Arg372Gly) c.856C>G (p.Arg286Gly) c.1108-211C>G (n.1108-211C>G) | dbSNP |
| 22 | g.50625675G= | CA2410958610 | ARSA | c.1114C= (p.Arg372=) c.856C= (p.Arg286=) c.1108-211C= (n.1108-211C=) | dbSNP |