| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2777991G>C | CA379139646 | KCNQ1 | c.1391G>C (p.Arg464Pro) c.1208G>C (p.Arg403Pro) c.1748G>C (p.Arg583Pro) c.1367G>C (p.Arg456Pro) c.152G>C (p.Arg51Pro) c.854G>C (p.Arg285Pro) n.255G>C | dbSNP |
| 11 | g.2777991G>A | CA006304 | KCNQ1 | c.1391G>A (p.Arg464His) c.1208G>A (p.Arg403His) c.1748G>A (p.Arg583His) c.1367G>A (p.Arg456His) c.152G>A (p.Arg51His) c.854G>A (p.Arg285His) n.255G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |