| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444805C>T | CA409654914 | KCNQ2 | c.544G>A (p.Val182Met) n.282G>A c.25G>A (p.Val9Met) c.202G>A (p.Val68Met) n.670G>A n.386G>A n.369G>A c.475G>A (p.Val159Met) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444805C= | CA2374796197 | KCNQ2 | c.544G= (p.Val182=) n.282G= c.25G= (p.Val9=) c.202G= (p.Val68=) n.670G= n.386G= n.369G= c.475G= (p.Val159=) | dbSNP |