| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40819416G>A | CA342055 | KCNQ4 | c.778G>A (p.Glu260Lys) c.464G>A n.97G>A n.784G>A c.-240G>A (n.-240G>A) | ClinVar dbSNP |
| 1 | g.40819416G>T | CA339895551 | KCNQ4 | c.778G>T (p.Glu260Ter) c.464G>T n.97G>T n.784G>T c.-240G>T (n.-240G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40819416G= | CA1141188906 | KCNQ4 | c.778G= (p.Glu260=) c.464G= n.97G= n.784G= c.-240G= (n.-240G=) | dbSNP |