| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132175491C>T | CA342039 | KCNQ3 | c.895G>A (p.Glu299Lys) c.535G>A (p.Glu179Lys) c.568G>A (p.Glu190Lys) c.545G>A n.673G>A c.532G>A (p.Glu178Lys) c.-262G>A (n.-262G>A) c.187G>A (p.Glu63Lys) c.673G>A (p.Glu225Lys) | ClinVar dbSNP |
| 8 | g.132175491C= | CA1820664528 | KCNQ3 | c.895G= (p.Glu299=) c.535G= (p.Glu179=) c.568G= (p.Glu190=) c.545G= n.673G= c.532G= (p.Glu178=) c.-262G= (n.-262G=) c.187G= (p.Glu63=) c.673G= (p.Glu225=) | dbSNP |