| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583478C>A | CA008945 | KCNQ1 | c.704C>A (p.Thr235Lys) c.521C>A (p.Thr174Lys) c.965C>A (p.Thr322Lys) c.584C>A (p.Thr195Lys) c.167C>A (p.Thr56Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583478C>T | CA008957 | KCNQ1 | c.704C>T (p.Thr235Met) c.521C>T (p.Thr174Met) c.965C>T (p.Thr322Met) c.584C>T (p.Thr195Met) c.167C>T (p.Thr56Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583478C>G | CA008952 | KCNQ1 | c.704C>G (p.Thr235Arg) c.521C>G (p.Thr174Arg) c.965C>G (p.Thr322Arg) c.584C>G (p.Thr195Arg) c.167C>G (p.Thr56Arg) | ClinVar dbSNP |