| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210675762A>C | CA115532 | CPS1 | c.4196A>C (p.Asn1399Thr) c.4214A>C (p.Asn1405Thr) c.2843A>C (p.Asn948Thr) n.861A>C n.344A>C c.2819A>C n.3341A>C n.3382A>C c.4229A>C (p.Asn1410Thr) n.5105A>C n.3352A>C | dbSNP |
| 2 | g.210675762A= | CA1325109811 | CPS1 | c.4196A= (p.Asn1399=) c.4214A= (p.Asn1405=) c.2843A= (p.Asn948=) n.861A= n.344A= c.2819A= n.3341A= n.3382A= c.4229A= (p.Asn1410=) n.5105A= n.3352A= | dbSNP |