| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444737C>G | CA315367 | KCNQ2 | c.612G>C (p.Gln204His) n.350G>C n.6G>C c.93G>C (p.Gln31His) c.270G>C (p.Gln90His) n.738G>C n.454G>C c.33G>C (p.Gln11His) n.437G>C c.543G>C (p.Gln181His) | ClinVar dbSNP |
| 20 | g.63444737C>A | CA315369 | KCNQ2 | c.612G>T (p.Gln204His) n.350G>T n.6G>T c.93G>T (p.Gln31His) c.270G>T (p.Gln90His) n.738G>T n.454G>T c.33G>T (p.Gln11His) n.437G>T c.543G>T (p.Gln181His) | ClinVar dbSNP |