| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625614C>T | CA218988 | ARSA | c.1175G>A (p.Arg392Gln) c.917G>A (p.Arg306Gln) c.43G>A c.1108-150G>A (n.1108-150G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625614C>A | CA10324802 | ARSA | c.1175G>T (p.Arg392Leu) c.917G>T (p.Arg306Leu) c.43G>T c.1108-150G>T (n.1108-150G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625614C= | CA2410958579 | ARSA | c.1175G= (p.Arg392=) c.917G= (p.Arg306=) c.43G= c.1108-150G= (n.1108-150G=) | dbSNP |
| 22 | g.50625614C>G | CA412170057 | ARSA | c.1175G>C (p.Arg392Pro) c.917G>C (p.Arg306Pro) c.43G>C c.1108-150G>C (n.1108-150G>C) | dbSNP |