| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444736T>C | CA10654824 | KCNQ2 | c.613A>G (p.Ile205Val) n.351A>G n.7A>G c.94A>G (p.Ile32Val) c.271A>G (p.Ile91Val) n.739A>G n.455A>G c.34A>G (p.Ile12Val) n.438A>G c.544A>G (p.Ile182Val) | ClinVar dbSNP |
| 20 | g.63444736T= | CA2374796075 | KCNQ2 | c.613A= (p.Ile205=) n.351A= n.7A= c.94A= (p.Ile32=) c.271A= (p.Ile91=) n.739A= n.455A= c.34A= (p.Ile12=) n.438A= c.544A= (p.Ile182=) | dbSNP |