| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626271T>G | CA116005 | ARSA | c.862A>C (p.Thr288Pro) c.604A>C (p.Thr202Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626271T>A | CA412175116 | ARSA | c.862A>T (p.Thr288Ser) c.604A>T (p.Thr202Ser) | dbSNP |
| 22 | g.50626271T= | CA2410958960 | ARSA | c.862A= (p.Thr288=) c.604A= (p.Thr202=) | dbSNP |