| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63438675T>G | CA10654805 | KCNQ2 | c.973A>C (p.Arg325=) n.711A>C c.454A>C (p.Arg152=) c.631A>C (p.Arg211=) n.1099A>C c.338A>C c.117A>C c.446A>C (p.Gln149Pro) c.847A>C (p.Arg283=) c.904A>C (p.Arg302=) | ClinVar dbSNP |
| 20 | g.63438675T>C | CA10654804 | KCNQ2 | c.973A>G (p.Arg325Gly) n.711A>G c.454A>G (p.Arg152Gly) c.631A>G (p.Arg211Gly) n.1099A>G c.338A>G c.117A>G c.446A>G (p.Gln149Arg) c.847A>G (p.Arg283Gly) c.904A>G (p.Arg302Gly) | ClinVar dbSNP |
| 20 | g.63438675T= | CA2374791376 | KCNQ2 | c.973A= (p.Arg325=) n.711A= c.454A= (p.Arg152=) c.631A= (p.Arg211=) n.1099A= c.338A= c.117A= c.446A= (p.Gln149=) c.847A= (p.Arg283=) c.904A= (p.Arg302=) | dbSNP |