| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572900T>A | CA16044372 | KCNQ1 | c.574T>A (p.Phe192Ile) c.478-10535T>A (n.478-10535T>A) c.835T>A (p.Phe279Ile) c.454T>A (p.Phe152Ile) c.124-10535T>A (n.124-10535T>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572900T= | CA1948243202 | KCNQ1 | c.574T= (p.Phe192=) c.478-10535T= (n.478-10535T=) c.835T= (p.Phe279=) c.454T= (p.Phe152=) c.124-10535T= (n.124-10535T=) | dbSNP |