| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.59193507A>G | CA128848 | PDE4D | c.485T>C (p.Phe162Ser) c.677T>C (p.Phe226Ser) c.347T>C (p.Phe116Ser) c.242T>C (p.Phe81Ser) c.269T>C (p.Phe90Ser) n.340T>C c.311T>C (p.Phe104Ser) c.494T>C (p.Phe165Ser) c.287T>C (p.Phe96Ser) c.-98-154536T>C (n.-98-154536T>C) n.189T>C c.284T>C (p.Phe95Ser) n.222T>C c.641T>C (p.Phe214Ser) c.464T>C (p.Phe155Ser) c.257T>C (p.Phe86Ser) c.236T>C (p.Phe79Ser) c.173T>C (p.Phe58Ser) c.-18T>C (n.-18T>C) c.-274T>C (n.-274T>C) c.479T>C (p.Phe160Ser) | ClinVar dbSNP |
| 5 | g.59193507A>C | CA150719 | PDE4D | c.485T>G (p.Phe162Cys) c.677T>G (p.Phe226Cys) c.347T>G (p.Phe116Cys) c.242T>G (p.Phe81Cys) c.269T>G (p.Phe90Cys) n.340T>G c.311T>G (p.Phe104Cys) c.494T>G (p.Phe165Cys) c.287T>G (p.Phe96Cys) c.-98-154536T>G (n.-98-154536T>G) n.189T>G c.284T>G (p.Phe95Cys) n.222T>G c.641T>G (p.Phe214Cys) c.464T>G (p.Phe155Cys) c.257T>G (p.Phe86Cys) c.236T>G (p.Phe79Cys) c.173T>G (p.Phe58Cys) c.-18T>G (n.-18T>G) c.-274T>G (n.-274T>G) c.479T>G (p.Phe160Cys) | ClinVar dbSNP |
| 5 | g.59193507A= | CA1549218565 | PDE4D | c.485T= (p.Phe162=) c.677T= (p.Phe226=) c.347T= (p.Phe116=) c.242T= (p.Phe81=) c.269T= (p.Phe90=) n.340T= c.311T= (p.Phe104=) c.494T= (p.Phe165=) c.287T= (p.Phe96=) c.-98-154536T= (n.-98-154536T=) n.189T= c.284T= (p.Phe95=) n.222T= c.641T= (p.Phe214=) c.464T= (p.Phe155=) c.257T= (p.Phe86=) c.236T= (p.Phe79=) c.173T= (p.Phe58=) c.-18T= (n.-18T=) c.-274T= (n.-274T=) c.479T= (p.Phe160=) | dbSNP |