| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210600636C>A | CA2086412 | CPS1 | c.1631C>A (p.Thr544Lys) c.1649C>A (p.Thr550Lys) c.278C>A (p.Thr93Lys) c.111C>A n.776C>A c.1664C>A (p.Thr555Lys) n.2540C>A n.787C>A | dbSNP ExAC gnomAD v2 |
| 2 | g.210600636C>T | CA115525 | CPS1 | c.1631C>T (p.Thr544Met) c.1649C>T (p.Thr550Met) c.278C>T (p.Thr93Met) c.111C>T n.776C>T c.1664C>T (p.Thr555Met) n.2540C>T n.787C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.210600636C= | CA1325076690 | CPS1 | c.1631C= (p.Thr544=) c.1649C= (p.Thr550=) c.278C= (p.Thr93=) c.111C= n.776C= c.1664C= (p.Thr555=) n.2540C= n.787C= | dbSNP |