| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626234A>G | CA219070 | ARSA | c.899T>C (p.Leu300Ser) c.641T>C (p.Leu214Ser) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626234A= | CA2410958932 | ARSA | c.899T= (p.Leu300=) c.641T= (p.Leu214=) | dbSNP |
| 22 | g.50626234A>C | CA412174773 | ARSA | c.899T>G (p.Leu300Trp) c.641T>G (p.Leu214Trp) | ClinVar dbSNP |
| 22 | g.50626234A>T | CA412174792 | ARSA | c.899T>A (p.Leu300Ter) c.641T>A (p.Leu214Ter) | dbSNP |