| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.75985655T>A | CA257651 | POR | c.1250T>A (p.Val417Glu) c.1376T>A (p.Val459Glu) c.1475T>A (p.Val492Glu) c.*109-405T>A (n.*109-405T>A) c.689T>A (p.Val230Glu) c.1626T>A c.*780T>A (n.*780T>A) n.86T>A n.849T>A c.1529T>A (p.Val510Glu) c.1325T>A (p.Val442Glu) c.1466T>A (p.Val489Glu) c.1520T>A (p.Val507Glu) c.1316T>A (p.Val439Glu) | ClinVar dbSNP |
| 7 | g.75985655T= | CA1718180249 | POR | c.1250T= (p.Val417=) c.1376T= (p.Val459=) c.1475T= (p.Val492=) c.*109-405T= (n.*109-405T=) c.689T= (p.Val230=) c.1626T= c.*780T= (n.*780T=) n.86T= n.849T= c.1529T= (p.Val510=) c.1325T= (p.Val442=) c.1466T= (p.Val489=) c.1520T= (p.Val507=) c.1316T= (p.Val439=) | dbSNP |