| 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 |
| 11 | g.2847958C= | CA1630848563 | KCNQ1,KCNQ1-AS1 | c.1629C= (p.Tyr543=) c.1986C= (p.Tyr662=) c.1605C= (p.Tyr535=) c.390C= (p.Tyr130=) n.493C= n.778-7516G= | dbSNP |
| 11 | g.2847958C>A | CA379140565 | KCNQ1,KCNQ1-AS1 | c.1629C>A (p.Tyr543Ter) c.1986C>A (p.Tyr662Ter) c.1605C>A (p.Tyr535Ter) c.390C>A (p.Tyr130Ter) n.493C>A n.778-7516G>T | dbSNP gnomAD v4 |