| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583452C>G | CA008767 | KCNQ1 | c.678C>G (p.Ile226Met) c.495C>G (p.Ile165Met) c.939C>G (p.Ile313Met) c.558C>G (p.Ile186Met) c.141C>G (p.Ile47Met) | ClinVar dbSNP |
| 11 | g.2583452C>T | CA041764 | KCNQ1 | c.678C>T (p.Ile226=) c.495C>T (p.Ile165=) c.939C>T (p.Ile313=) c.558C>T (p.Ile186=) c.141C>T (p.Ile47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |