| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2527990C>G | CA007123 | KCNQ1 | c.188C>G (p.Ala63Gly) c.449C>G (p.Ala150Gly) c.68C>G (p.Ala23Gly) c.95C>G (p.Ala32Gly) | ClinVar dbSNP |
| 11 | g.2527990C>T | CA379121970 | KCNQ1 | c.188C>T (p.Ala63Val) c.449C>T (p.Ala150Val) c.68C>T (p.Ala23Val) c.95C>T (p.Ala32Val) | dbSNP gnomAD v4 |