| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444783C>A | CA10654828 | KCNQ2 | c.566G>T (p.Gly189Val) n.304G>T c.47G>T (p.Gly16Val) c.224G>T (p.Gly75Val) n.692G>T n.408G>T n.391G>T c.497G>T (p.Gly166Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444783C= | CA2374796183 | KCNQ2 | c.566G= (p.Gly189=) n.304G= c.47G= (p.Gly16=) c.224G= (p.Gly75=) n.692G= n.408G= n.391G= c.497G= (p.Gly166=) | dbSNP |
| 20 | g.63444783C>T | CA409654870 | KCNQ2 | c.566G>A (p.Gly189Asp) n.304G>A c.47G>A (p.Gly16Asp) c.224G>A (p.Gly75Asp) n.692G>A n.408G>A n.391G>A c.497G>A (p.Gly166Asp) | ClinVar dbSNP |