| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2587594G>A | CA005418 | KCNQ1 | c.796G>A (p.Glu266Lys) c.613G>A (p.Glu205Lys) c.1153G>A (p.Glu385Lys) c.772G>A (p.Glu258Lys) c.259G>A (p.Glu87Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2587594G>C | CA379134687 | KCNQ1 | c.796G>C (p.Glu266Gln) c.613G>C (p.Glu205Gln) c.1153G>C (p.Glu385Gln) c.772G>C (p.Glu258Gln) c.259G>C (p.Glu87Gln) | ClinVar dbSNP gnomAD v4 |