| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2587690G>A | CA005526 | KCNQ1 | c.892G>A (p.Val298Met) c.709G>A (p.Val237Met) c.1249G>A (p.Val417Met) c.868G>A (p.Val290Met) c.355G>A (p.Val119Met) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2587690G= | CA1948233599 | KCNQ1 | c.892G= (p.Val298=) c.709G= (p.Val237=) c.1249G= (p.Val417=) c.868G= (p.Val290=) c.355G= (p.Val119=) | dbSNP |
| 11 | g.2587690G>T | CA379134878 | KCNQ1 | c.892G>T (p.Val298Leu) c.709G>T (p.Val237Leu) c.1249G>T (p.Val417Leu) c.868G>T (p.Val290Leu) c.355G>T (p.Val119Leu) | dbSNP gnomAD v4 |