| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439656C>T | CA130534 | KCNQ2 | c.869G>A (p.Gly290Asp) n.607G>A c.350G>A (p.Gly117Asp) c.527G>A (p.Gly176Asp) n.995G>A c.234G>A c.13G>A c.372G>A (p.Arg124=) n.694G>A c.743G>A (p.Gly248Asp) c.800G>A (p.Gly267Asp) | ClinVar dbSNP |
| 20 | g.63439656C>A | CA409652612 | KCNQ2 | c.869G>T (p.Gly290Val) n.607G>T c.350G>T (p.Gly117Val) c.527G>T (p.Gly176Val) n.995G>T c.234G>T c.13G>T c.372G>T (p.Arg124=) n.694G>T c.743G>T (p.Gly248Val) c.800G>T (p.Gly267Val) | ClinVar dbSNP |