| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583472C>A | CA008917 | KCNQ1 | c.698C>A (p.Pro233His) c.515C>A (p.Pro172His) c.959C>A (p.Pro320His) c.578C>A (p.Pro193His) c.161C>A (p.Pro54His) | ClinVar dbSNP |
| 11 | g.2583472C>T | CA379133003 | KCNQ1 | c.698C>T (p.Pro233Leu) c.515C>T (p.Pro172Leu) c.959C>T (p.Pro320Leu) c.578C>T (p.Pro193Leu) c.161C>T (p.Pro54Leu) | ClinVar dbSNP |