| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444762G>A | CA342514 | KCNQ2 | c.587C>T (p.Ala196Val) n.325C>T c.68C>T (p.Ala23Val) c.245C>T (p.Ala82Val) n.713C>T n.429C>T c.8C>T (p.Ala3Val) n.412C>T c.518C>T (p.Ala173Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444762G>C | CA409654827 | KCNQ2 | c.587C>G (p.Ala196Gly) n.325C>G c.68C>G (p.Ala23Gly) c.245C>G (p.Ala82Gly) n.713C>G n.429C>G c.8C>G (p.Ala3Gly) n.412C>G c.518C>G (p.Ala173Gly) | dbSNP gnomAD v2 gnomAD v4 |