| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2776997C>T | CA006211 | KCNQ1 | c.1340C>T (p.Ser447Phe) c.1157C>T (p.Ser386Phe) c.1697C>T (p.Ser566Phe) c.1316C>T (p.Ser439Phe) c.803C>T (p.Ser268Phe) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.2776997C>A | CA006206 | KCNQ1 | c.1340C>A (p.Ser447Tyr) c.1157C>A (p.Ser386Tyr) c.1697C>A (p.Ser566Tyr) c.1316C>A (p.Ser439Tyr) c.803C>A (p.Ser268Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2776997C= | CA1948314557 | KCNQ1 | c.1340C= (p.Ser447=) c.1157C= (p.Ser386=) c.1697C= (p.Ser566=) c.1316C= (p.Ser439=) c.803C= (p.Ser268=) | dbSNP |