| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210600635A>T | CA312390 | CPS1 | c.1630A>T (p.Thr544Ser) c.1648A>T (p.Thr550Ser) c.277A>T (p.Thr93Ser) c.110A>T n.775A>T c.1663A>T (p.Thr555Ser) n.2539A>T n.786A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.210600635A= | CA1325076689 | CPS1 | c.1630A= (p.Thr544=) c.1648A= (p.Thr550=) c.277A= (p.Thr93=) c.110A= n.775A= c.1663A= (p.Thr555=) n.2539A= n.786A= | dbSNP |