| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444714T>A | CA16620975 | KCNQ2 | c.635A>T (p.Asp212Val) n.373A>T n.29A>T c.116A>T (p.Asp39Val) c.293A>T (p.Asp98Val) n.761A>T n.477A>T c.56A>T (p.Asp19Val) n.460A>T c.566A>T (p.Asp189Val) | ClinVar dbSNP |
| 20 | g.63444714T>G | CA409654740 | KCNQ2 | c.635A>C (p.Asp212Ala) n.373A>C n.29A>C c.116A>C (p.Asp39Ala) c.293A>C (p.Asp98Ala) n.761A>C n.477A>C c.56A>C (p.Asp19Ala) n.460A>C c.566A>C (p.Asp189Ala) | ClinVar dbSNP |
| 20 | g.63444714T>C | CA342517 | KCNQ2 | c.635A>G (p.Asp212Gly) n.373A>G n.29A>G c.116A>G (p.Asp39Gly) c.293A>G (p.Asp98Gly) n.761A>G n.477A>G c.56A>G (p.Asp19Gly) n.460A>G c.566A>G (p.Asp189Gly) | ClinVar dbSNP gnomAD v4 |