| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210591913A>T | CA2086224 | CPS1 | c.1030A>T (p.Thr344Ser) c.1048A>T (p.Thr350Ser) c.1063A>T (p.Thr355Ser) n.1942A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.210591913A>G | CA288777 | CPS1 | c.1030A>G (p.Thr344Ala) c.1048A>G (p.Thr350Ala) c.1063A>G (p.Thr355Ala) n.1942A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.210591913A= | CA1325072862 | CPS1 | c.1030A= (p.Thr344=) c.1048A= (p.Thr350=) c.1063A= (p.Thr355=) n.1942A= | dbSNP |