| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572970C>T | CA008587 | KCNQ1 | c.644C>T (p.Ala215Val) c.478-10465C>T (n.478-10465C>T) c.905C>T (p.Ala302Val) c.524C>T (p.Ala175Val) c.124-10465C>T (n.124-10465C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572970C>A | CA008583 | KCNQ1 | c.644C>A (p.Ala215Glu) c.478-10465C>A (n.478-10465C>A) c.905C>A (p.Ala302Glu) c.524C>A (p.Ala175Glu) c.124-10465C>A (n.124-10465C>A) | ClinVar dbSNP |