| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210675783C>A | CA288789 | CPS1 | c.4217C>A (p.Thr1406Asn) c.4235C>A (p.Thr1412Asn) c.2864C>A (p.Thr955Asn) n.882C>A n.365C>A c.2840C>A n.3362C>A n.3403C>A c.4250C>A (p.Thr1417Asn) n.5126C>A n.3373C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.210675783C= | CA1325109821 | CPS1 | c.4217C= (p.Thr1406=) c.4235C= (p.Thr1412=) c.2864C= (p.Thr955=) n.882C= n.365C= c.2840C= n.3362C= n.3403C= c.4250C= (p.Thr1417=) n.5126C= n.3373C= | dbSNP |