| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210591893A>G | CA115530 | CPS1 | c.1010A>G (p.His337Arg) c.1028A>G (p.His343Arg) c.1043A>G (p.His348Arg) n.1922A>G | ClinVar dbSNP |
| 2 | g.210591893A= | CA1325072850 | CPS1 | c.1010A= (p.His337=) c.1028A= (p.His343=) c.1043A= (p.His348=) n.1922A= | dbSNP |