| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.119737114G>A | CA170844 | PHGDH | c.793G>A (p.Glu265Lys) n.613G>A c.*446G>A (n.*446G>A) n.778G>A c.*629G>A (n.*629G>A) c.*537G>A (n.*537G>A) c.549G>A c.*619G>A (n.*619G>A) n.733G>A n.915G>A c.691G>A (p.Glu231Lys) c.1015G>A (p.Glu339Lys) c.937G>A (p.Glu313Lys) c.904G>A (p.Glu302Lys) c.730G>A (p.Glu244Lys) c.508G>A (p.Glu170Lys) c.499G>A (p.Glu167Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.119737114G= | CA1148224509 | PHGDH | c.793G= (p.Glu265=) n.613G= c.*446G= (n.*446G=) n.778G= c.*629G= (n.*629G=) c.*537G= (n.*537G=) c.549G= c.*619G= (n.*619G=) n.733G= n.915G= c.691G= (p.Glu231=) c.1015G= (p.Glu339=) c.937G= (p.Glu313=) c.904G= (p.Glu302=) c.730G= (p.Glu244=) c.508G= (p.Glu170=) c.499G= (p.Glu167=) | dbSNP |