| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.113390798C>T | CA126931 | ALAD | c.397G>A (p.Gly133Arg) n.393G>A n.519G>A n.670G>A c.484G>A (p.Gly162Arg) c.523G>A (p.Gly175Arg) c.424G>A (p.Gly142Arg) c.373G>A (p.Gly125Arg) n.897G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.113390798C= | CA1873366403 | ALAD | c.397G= (p.Gly133=) n.393G= n.519G= n.670G= c.484G= (p.Gly162=) c.523G= (p.Gly175=) c.424G= (p.Gly142=) c.373G= (p.Gly125=) n.897G= | dbSNP |