| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847958C>G | CA006628 | KCNQ1,KCNQ1-AS1 | c.1629C>G (p.Tyr543Ter) c.1986C>G (p.Tyr662Ter) c.1605C>G (p.Tyr535Ter) c.390C>G (p.Tyr130Ter) n.493C>G n.778-7516G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847958C>T | CA006636 | KCNQ1,KCNQ1-AS1 | c.1629C>T (p.Tyr543=) c.1986C>T (p.Tyr662=) c.1605C>T (p.Tyr535=) c.390C>T (p.Tyr130=) n.493C>T n.778-7516G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |