| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63438708A>G | CA16620970 | KCNQ2 | c.940T>C (p.Ser314Pro) n.678T>C c.421T>C (p.Ser141Pro) c.598T>C (p.Ser200Pro) n.1066T>C c.305T>C c.84T>C c.431-18T>C (n.431-18T>C) n.765T>C c.814T>C (p.Ser272Pro) c.871T>C (p.Ser291Pro) | ClinVar dbSNP |
| 20 | g.63438708A= | CA2374791403 | KCNQ2 | c.940T= (p.Ser314=) n.678T= c.421T= (p.Ser141=) c.598T= (p.Ser200=) n.1066T= c.305T= c.84T= c.431-18T= (n.431-18T=) n.765T= c.814T= (p.Ser272=) c.871T= (p.Ser291=) | dbSNP |