| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444709G>A | CA245495 | KCNQ2 | c.640C>T (p.Arg214Trp) n.378C>T n.34C>T c.121C>T (p.Arg41Trp) c.298C>T (p.Arg100Trp) n.766C>T n.482C>T c.5C>T c.61C>T (p.Arg21Trp) n.465C>T c.571C>T (p.Arg191Trp) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444709G>C | CA409654735 | KCNQ2 | c.640C>G (p.Arg214Gly) n.378C>G n.34C>G c.121C>G (p.Arg41Gly) c.298C>G (p.Arg100Gly) n.766C>G n.482C>G c.5C>G c.61C>G (p.Arg21Gly) n.465C>G c.571C>G (p.Arg191Gly) | dbSNP |
| 20 | g.63444709G= | CA2374795940 | KCNQ2 | c.640C= (p.Arg214=) n.378C= n.34C= c.121C= (p.Arg41=) c.298C= (p.Arg100=) n.766C= n.482C= c.5C= c.61C= (p.Arg21=) n.465C= c.571C= (p.Arg191=) | dbSNP |