| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627329C>T | CA115958 | ARSA | c.302G>A (p.Gly101Asp) c.44G>A (p.Gly15Asp) n.693G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627329C>A | CA219014 | ARSA | c.302G>T (p.Gly101Val) c.44G>T (p.Gly15Val) n.693G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627329C>G | CA412181454 | ARSA | c.302G>C (p.Gly101Ala) c.44G>C (p.Gly15Ala) n.693G>C | dbSNP gnomAD v4 |
| 22 | g.50627329C= | CA2410959552 | ARSA | c.302G= (p.Gly101=) c.44G= (p.Gly15=) n.693G= | dbSNP |