| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444665G>T | CA342521 | KCNQ2 | c.684C>A (p.His228Gln) n.422C>A n.78C>A c.165C>A (p.His55Gln) c.342C>A (p.His114Gln) n.810C>A n.526C>A c.49C>A c.105C>A (p.His35Gln) n.509C>A c.615C>A (p.His205Gln) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444665G>A | CA511211145 | KCNQ2 | c.684C>T (p.His228=) n.422C>T n.78C>T c.165C>T (p.His55=) c.342C>T (p.His114=) n.810C>T n.526C>T c.49C>T c.105C>T (p.His35=) n.509C>T c.615C>T (p.His205=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |