| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132175508C>T | CA16618601 | KCNQ3 | c.878G>A (p.Gly293Glu) c.518G>A (p.Gly173Glu) c.551G>A (p.Gly184Glu) c.528G>A n.656G>A c.515G>A (p.Gly172Glu) c.-279G>A (n.-279G>A) c.170G>A (p.Gly57Glu) c.656G>A (p.Gly219Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175508C>A | CA372290415 | KCNQ3 | c.878G>T (p.Gly293Val) c.518G>T (p.Gly173Val) c.551G>T (p.Gly184Val) c.528G>T n.656G>T c.515G>T (p.Gly172Val) c.-279G>T (n.-279G>T) c.170G>T (p.Gly57Val) c.656G>T (p.Gly219Val) | ClinVar dbSNP gnomAD v4 |