| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132175457C>T | CA372290298 | KCNQ3 | c.929G>A (p.Gly310Asp) c.569G>A (p.Gly190Asp) c.602G>A (p.Gly201Asp) c.579G>A n.707G>A c.566G>A (p.Gly189Asp) c.-228G>A (n.-228G>A) c.221G>A (p.Gly74Asp) c.707G>A (p.Gly236Asp) | ClinVar dbSNP |
| 8 | g.132175457C>A | CA340677 | KCNQ3 | c.929G>T (p.Gly310Val) c.569G>T (p.Gly190Val) c.602G>T (p.Gly201Val) c.579G>T n.707G>T c.566G>T (p.Gly189Val) c.-228G>T (n.-228G>T) c.221G>T (p.Gly74Val) c.707G>T (p.Gly236Val) | ClinVar dbSNP |
| 8 | g.132175457C= | CA1820664512 | KCNQ3 | c.929G= (p.Gly310=) c.569G= (p.Gly190=) c.602G= (p.Gly201=) c.579G= n.707G= c.566G= (p.Gly189=) c.-228G= (n.-228G=) c.221G= (p.Gly74=) c.707G= (p.Gly236=) | dbSNP |