| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444718T>C | CA16608425 | KCNQ2 | c.631A>G (p.Met211Val) n.369A>G n.25A>G c.112A>G (p.Met38Val) c.289A>G (p.Met97Val) n.757A>G n.473A>G c.52A>G (p.Met18Val) n.456A>G c.562A>G (p.Met188Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444718T= | CA2374795975 | KCNQ2 | c.631A= (p.Met211=) n.369A= n.25A= c.112A= (p.Met38=) c.289A= (p.Met97=) n.757A= n.473A= c.52A= (p.Met18=) n.456A= c.562A= (p.Met188=) | dbSNP |