| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63415086G>A | CA315443 | KCNQ2 | c.1288C>T (p.Arg430Ter) c.1342C>T (p.Arg448Ter) c.739C>T (p.Arg247Ter) n.79C>T c.1252C>T (p.Arg418Ter) c.910C>T (p.Arg304Ter) c.1258C>T (p.Arg420Ter) c.1222C>T (p.Arg408Ter) c.402C>T c.1312C>T (p.Arg438Ter) c.1216C>T (p.Arg406Ter) c.823C>T (p.Arg275Ter) c.1219C>T (p.Arg407Ter) c.250C>T (p.Arg84Ter) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63415086G>T | CA511339585 | KCNQ2 | c.1288C>A (p.Arg430=) c.1342C>A (p.Arg448=) c.739C>A (p.Arg247=) n.79C>A c.1252C>A (p.Arg418=) c.910C>A (p.Arg304=) c.1258C>A (p.Arg420=) c.1222C>A (p.Arg408=) c.402C>A c.1312C>A (p.Arg438=) c.1216C>A (p.Arg406=) c.823C>A (p.Arg275=) c.1219C>A (p.Arg407=) c.250C>A (p.Arg84=) | dbSNP gnomAD v2 gnomAD v4 |