| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444712G>A | CA202848 | KCNQ2 | c.637C>T (p.Arg213Trp) n.375C>T n.31C>T c.118C>T (p.Arg40Trp) c.295C>T (p.Arg99Trp) n.763C>T n.479C>T c.2C>T c.58C>T (p.Arg20Trp) n.462C>T c.568C>T (p.Arg190Trp) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444712G>T | CA511211303 | KCNQ2 | c.637C>A (p.Arg213=) n.375C>A n.31C>A c.118C>A (p.Arg40=) c.295C>A (p.Arg99=) n.763C>A n.479C>A c.2C>A c.58C>A (p.Arg20=) n.462C>A c.568C>A (p.Arg190=) | dbSNP gnomAD v2 gnomAD v4 |