| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.58975076C>T | CA128858 | PDE4D | c.1826G>A (p.Gly609Asp) c.2018G>A (p.Gly673Asp) c.1688G>A (p.Gly563Asp) c.1870G>A (n.1870G>A) c.1145G>A (p.Gly382Asp) c.1112G>A (p.Gly371Asp) c.1610G>A (p.Gly537Asp) c.1652G>A (p.Gly551Asp) c.1835G>A (p.Gly612Asp) c.1628G>A (p.Gly543Asp) n.1754G>A c.1625G>A (p.Gly542Asp) c.1346G>A (p.Gly449Asp) c.1982G>A (p.Gly661Asp) c.1805G>A (p.Gly602Asp) c.1598G>A (p.Gly533Asp) c.1577G>A (p.Gly526Asp) c.1514G>A (p.Gly505Asp) c.1250G>A (p.Gly417Asp) c.1820G>A (p.Gly607Asp) | ClinVar dbSNP |
| 5 | g.58975076C= | CA1549121713 | PDE4D | c.1826G= (p.Gly609=) c.2018G= (p.Gly673=) c.1688G= (p.Gly563=) c.1870G= (n.1870G=) c.1145G= (p.Gly382=) c.1112G= (p.Gly371=) c.1610G= (p.Gly537=) c.1652G= (p.Gly551=) c.1835G= (p.Gly612=) c.1628G= (p.Gly543=) n.1754G= c.1625G= (p.Gly542=) c.1346G= (p.Gly449=) c.1982G= (p.Gly661=) c.1805G= (p.Gly602=) c.1598G= (p.Gly533=) c.1577G= (p.Gly526=) c.1514G= (p.Gly505=) c.1250G= (p.Gly417=) c.1820G= (p.Gly607=) | dbSNP |