| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210573338T>G | CA312400 | CPS1 | c.167T>G (p.Met56Arg) c.185T>G (p.Met62Arg) c.200T>G (p.Met67Arg) n.1079T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.210573338T>C | CA350421749 | CPS1 | c.167T>C (p.Met56Thr) c.185T>C (p.Met62Thr) c.200T>C (p.Met67Thr) n.1079T>C | dbSNP gnomAD v4 |
| 2 | g.210573338T= | CA1325064704 | CPS1 | c.167T= (p.Met56=) c.185T= (p.Met62=) c.200T= (p.Met67=) n.1079T= | dbSNP |