| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63438681G>A | CA342540 | KCNQ2 | c.967C>T (p.Gln323Ter) n.705C>T c.448C>T (p.Gln150Ter) c.625C>T (p.Gln209Ter) n.1093C>T c.332C>T c.111C>T c.440C>T (p.Ala147Val) c.841C>T (p.Gln281Ter) c.898C>T (p.Gln300Ter) | ClinVar dbSNP |
| 20 | g.63438681G= | CA2374791382 | KCNQ2 | c.967C= (p.Gln323=) n.705C= c.448C= (p.Gln150=) c.625C= (p.Gln209=) n.1093C= c.332C= c.111C= c.440C= (p.Ala147=) c.841C= (p.Gln281=) c.898C= (p.Gln300=) | dbSNP |