| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63438662A>G | CA16620969 | KCNQ2 | c.986T>C (p.Phe329Ser) n.724T>C n.12T>C c.467T>C (p.Phe156Ser) c.644T>C (p.Phe215Ser) n.1112T>C c.351T>C c.130T>C c.459T>C (p.Leu153=) c.860T>C (p.Phe287Ser) c.917T>C (p.Phe306Ser) | ClinVar dbSNP |
| 20 | g.63438662A= | CA2374791121 | KCNQ2 | c.986T= (p.Phe329=) n.724T= n.12T= c.467T= (p.Phe156=) c.644T= (p.Phe215=) n.1112T= c.351T= c.130T= c.459T= (p.Leu153=) c.860T= (p.Phe287=) c.917T= (p.Phe306=) | dbSNP |