| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2588799C>G | CA005607 | KCNQ1 | c.981C>G (p.Asp327Glu) c.798C>G (p.Asp266Glu) c.1338C>G (p.Asp446Glu) c.957C>G (p.Asp319Glu) c.444C>G (p.Asp148Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2588799C>A | CA379135082 | KCNQ1 | c.981C>A (p.Asp327Glu) c.798C>A (p.Asp266Glu) c.1338C>A (p.Asp446Glu) c.957C>A (p.Asp319Glu) c.444C>A (p.Asp148Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |