| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2776030T>C | CA006128 | KCNQ1 | c.1304T>C (p.Val435Ala) c.1121T>C (p.Val374Ala) c.1661T>C (p.Val554Ala) c.1280T>C (p.Val427Ala) c.767T>C (p.Val256Ala) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2776030T= | CA1948314060 | KCNQ1 | c.1304T= (p.Val435=) c.1121T= (p.Val374=) c.1661T= (p.Val554=) c.1280T= (p.Val427=) c.767T= (p.Val256=) | dbSNP |