| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449477A>C | CA10581188 | KCNE1 | c.158T>G (p.Phe53Cys) c.13+5909T>G (n.13+5909T>G) c.279+9177T>G (n.279+9177T>G) c.221T>G (p.Phe74Cys) | ClinVar dbSNP |
| 21 | g.34449477A>G | CA331925 | KCNE1 | c.158T>C (p.Phe53Ser) c.13+5909T>C (n.13+5909T>C) c.279+9177T>C (n.279+9177T>C) c.221T>C (p.Phe74Ser) | ClinVar dbSNP |