| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130470873T>C | CA118130 | ASS1 | c.535T>C (p.Trp179Arg) c.478T>C (p.Trp160Arg) n.244T>C n.366T>C c.649T>C (p.Trp217Arg) c.631T>C (p.Trp211Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130470873T= | CA1881255883 | ASS1 | c.535T= (p.Trp179=) c.478T= (p.Trp160=) n.244T= n.366T= c.649T= (p.Trp217=) c.631T= (p.Trp211=) | dbSNP |