| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47946780T>C | CA118330 | PNPO | c.655T>C (p.Ter219Gln) c.730T>C (p.Ter244Gln) c.*449T>C (n.*449T>C) c.715T>C (p.Ter239Gln) n.453T>C n.2283T>C c.*803T>C (n.*803T>C) n.784T>C c.500T>C (n.500T>C) c.*606T>C (n.*606T>C) c.*1292T>C (n.*1292T>C) c.784T>C (p.Ter262Gln) c.544T>C (p.Ter182Gln) c.499T>C (p.Ter167Gln) | ClinVar dbSNP gnomAD v4 |
| 17 | g.47946780T= | CA2262900689 | PNPO | c.655T= (p.Ter219=) c.730T= (p.Ter244=) c.*449T= (n.*449T=) c.715T= (p.Ter239=) n.453T= n.2283T= c.*803T= (n.*803T=) n.784T= c.500T= (n.500T=) c.*606T= (n.*606T=) c.*1292T= (n.*1292T=) c.784T= (p.Ter262=) c.544T= (p.Ter182=) c.499T= (p.Ter167=) | dbSNP |