| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625392G>A | CA115956 | ARSA | c.1283C>T (p.Pro428Leu) c.1025C>T (p.Pro342Leu) c.151C>T c.*16C>T (n.*16C>T) c.1397C>T (p.Pro466Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625392G= | CA2410958457 | ARSA | c.1283C= (p.Pro428=) c.1025C= (p.Pro342=) c.151C= c.*16C= (n.*16C=) c.1397C= (p.Pro466=) | dbSNP |