| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847848G>A | CA006538 | KCNQ1,KCNQ1-AS1 | c.1519G>A (p.Gly507Ser) c.1876G>A (p.Gly626Ser) c.1495G>A (p.Gly499Ser) c.280G>A (p.Gly94Ser) n.383G>A n.778-7406C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847848G>C | CA379140342 | KCNQ1,KCNQ1-AS1 | c.1519G>C (p.Gly507Arg) c.1876G>C (p.Gly626Arg) c.1495G>C (p.Gly499Arg) c.280G>C (p.Gly94Arg) n.383G>C n.778-7406C>G | ClinVar dbSNP |
| 11 | g.2847848G= | CA1948349632 | KCNQ1,KCNQ1-AS1 | c.1519G= (p.Gly507=) c.1876G= (p.Gly626=) c.1495G= (p.Gly499=) c.280G= (p.Gly94=) n.383G= n.778-7406C= | dbSNP |