| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625446G>A | CA116009 | ARSA | c.1229C>T (p.Thr410Ile) c.971C>T (p.Thr324Ile) c.97C>T c.1126C>T (p.Pro376Ser) c.1343C>T (p.Thr448Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625446G= | CA2410958486 | ARSA | c.1229C= (p.Thr410=) c.971C= (p.Thr324=) c.97C= c.1126C= (p.Pro376=) c.1343C= (p.Thr448=) | dbSNP |
| 22 | g.50625446G>T | CA412169447 | ARSA | c.1229C>A (p.Thr410Asn) c.971C>A (p.Thr324Asn) c.97C>A c.1126C>A (p.Pro376Thr) c.1343C>A (p.Thr448Asn) | dbSNP gnomAD v4 |