| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.113389521G>A | CA126935 | ALAD | c.718C>T (p.Arg240Trp) n.991C>T c.805C>T (p.Arg269Trp) c.844C>T (p.Arg282Trp) c.745C>T (p.Arg249Trp) c.694C>T (p.Arg232Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.113389521G= | CA1873365817 | ALAD | c.718C= (p.Arg240=) n.991C= c.805C= (p.Arg269=) c.844C= (p.Arg282=) c.745C= (p.Arg249=) c.694C= (p.Arg232=) | dbSNP |