| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444711C>A | CA409654736 | KCNQ2 | c.638G>T (p.Arg213Leu) n.376G>T n.32G>T c.119G>T (p.Arg40Leu) c.296G>T (p.Arg99Leu) n.764G>T n.480G>T c.3G>T c.59G>T (p.Arg20Leu) n.463G>T c.569G>T (p.Arg190Leu) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444711C>T | CA130528 | KCNQ2 | c.638G>A (p.Arg213Gln) n.376G>A n.32G>A c.119G>A (p.Arg40Gln) c.296G>A (p.Arg99Gln) n.764G>A n.480G>A c.3G>A c.59G>A (p.Arg20Gln) n.463G>A c.569G>A (p.Arg190Gln) | ClinVar dbSNP gnomAD v4 |