| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572078T>C | CA008075 | KCNQ1 | c.488T>C (p.Leu163Pro) c.478-11357T>C (n.478-11357T>C) c.749T>C (p.Leu250Pro) c.368T>C (p.Leu123Pro) c.124-11357T>C (n.124-11357T>C) | ClinVar dbSNP |
| 11 | g.2572078T>A | CA008065 | KCNQ1 | c.488T>A (p.Leu163His) c.478-11357T>A (n.478-11357T>A) c.749T>A (p.Leu250His) c.368T>A (p.Leu123His) c.124-11357T>A (n.124-11357T>A) | ClinVar dbSNP |