| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625443G>A | CA115999 | ARSA | c.1232C>T (p.Thr411Ile) c.974C>T (p.Thr325Ile) c.100C>T c.1129C>T (p.Leu377=) c.1346C>T (p.Thr449Ile) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625443G= | CA2410958483 | ARSA | c.1232C= (p.Thr411=) c.974C= (p.Thr325=) c.100C= c.1129C= (p.Leu377=) c.1346C= (p.Thr449=) | dbSNP |
| 22 | g.50625443G>C | CA412169420 | ARSA | c.1232C>G (p.Thr411Ser) c.974C>G (p.Thr325Ser) c.100C>G c.1129C>G (p.Leu377Val) c.1346C>G (p.Thr449Ser) | dbSNP |