| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38894936A>G | CA145432 | SCN11A | c.2432T>C (p.Leu811Pro) c.2252T>C (p.Leu751Pro) c.2476T>C (n.2476T>C) c.2051T>C (p.Leu684Pro) c.1769T>C (p.Leu590Pro) c.980T>C (p.Leu327Pro) c.2807T>C (p.Leu936Pro) c.2234T>C (p.Leu745Pro) c.2159T>C (p.Leu720Pro) c.836T>C (p.Leu279Pro) | ClinVar dbSNP |
| 3 | g.38894936A= | CA1358718302 | SCN11A | c.2432T= (p.Leu811=) c.2252T= (p.Leu751=) c.2476T= (n.2476T=) c.2051T= (p.Leu684=) c.1769T= (p.Leu590=) c.980T= (p.Leu327=) c.2807T= (p.Leu936=) c.2234T= (p.Leu745=) c.2159T= (p.Leu720=) c.836T= (p.Leu279=) | dbSNP |