| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444826C>G | CA10654829 | KCNQ2 | c.523G>C (p.Val175Leu) n.261G>C c.4G>C (p.Val2Leu) c.181G>C (p.Val61Leu) n.649G>C n.365G>C n.348G>C c.454G>C (p.Val152Leu) | ClinVar dbSNP |
| 20 | g.63444826C>A | CA409654954 | KCNQ2 | c.523G>T (p.Val175Leu) n.261G>T c.4G>T (p.Val2Leu) c.181G>T (p.Val61Leu) n.649G>T n.365G>T n.348G>T c.454G>T (p.Val152Leu) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444826C= | CA2374796206 | KCNQ2 | c.523G= (p.Val175=) n.261G= c.4G= (p.Val2=) c.181G= (p.Val61=) n.649G= n.365G= n.348G= c.454G= (p.Val152=) | dbSNP |