| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626250C>T | CA219064 | ARSA | c.883G>A (p.Gly295Ser) c.625G>A (p.Gly209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626250C= | CA2410958944 | ARSA | c.883G= (p.Gly295=) c.625G= (p.Gly209=) | dbSNP |
| 22 | g.50626250C>A | CA412174927 | ARSA | c.883G>T (p.Gly295Cys) c.625G>T (p.Gly209Cys) | ClinVar dbSNP |
| 22 | g.50626250C>G | CA412174930 | ARSA | c.883G>C (p.Gly295Arg) c.625G>C (p.Gly209Arg) | dbSNP |