| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2587630C>T | CA005482 | KCNQ1 | c.832C>T (p.Arg278Trp) c.649C>T (p.Arg217Trp) c.1189C>T (p.Arg397Trp) c.808C>T (p.Arg270Trp) c.295C>T (p.Arg99Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2587630C>G | CA027592 | KCNQ1 | c.832C>G (p.Arg278Gly) c.649C>G (p.Arg217Gly) c.1189C>G (p.Arg397Gly) c.808C>G (p.Arg270Gly) c.295C>G (p.Arg99Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |