| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627048G>A | CA219030 | ARSA | c.470C>T (p.Pro157Leu) c.212C>T (p.Pro71Leu) n.974C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627048G>C | CA115979 | ARSA | c.470C>G (p.Pro157Arg) c.212C>G (p.Pro71Arg) n.974C>G | ClinVar dbSNP |
| 22 | g.50627048G= | CA2410959383 | ARSA | c.470C= (p.Pro157=) c.212C= (p.Pro71=) n.974C= | dbSNP |