| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572871G>A | CA008292 | KCNQ1 | c.545G>A (p.Gly182Asp) c.478-10564G>A (n.478-10564G>A) c.806G>A (p.Gly269Asp) c.425G>A (p.Gly142Asp) c.124-10564G>A (n.124-10564G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2572871G>T | CA008303 | KCNQ1 | c.545G>T (p.Gly182Val) c.478-10564G>T (n.478-10564G>T) c.806G>T (p.Gly269Val) c.425G>T (p.Gly142Val) c.124-10564G>T (n.124-10564G>T) | ClinVar dbSNP |