| 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 |
| 20 | g.63444712G= | CA2374795951 | KCNQ2 | c.637C= (p.Arg213=) n.375C= n.31C= c.118C= (p.Arg40=) c.295C= (p.Arg99=) n.763C= n.479C= c.2C= c.58C= (p.Arg20=) n.462C= c.568C= (p.Arg190=) | dbSNP |
| 20 | g.63444712G>C | CA409654738 | KCNQ2 | c.637C>G (p.Arg213Gly) n.375C>G n.31C>G c.118C>G (p.Arg40Gly) c.295C>G (p.Arg99Gly) n.763C>G n.479C>G c.2C>G c.58C>G (p.Arg20Gly) n.462C>G c.568C>G (p.Arg190Gly) | ClinVar dbSNP |