| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449523T>G | CA410198459 | KCNE1 | c.112A>C (p.Ser38Arg) c.13+5863A>C (n.13+5863A>C) c.279+9131A>C (n.279+9131A>C) c.175A>C (p.Ser59Arg) | dbSNP gnomAD v4 |
| 21 | g.34449523T>C | CA131330 | KCNE1 | c.112A>G (p.Ser38Gly) c.13+5863A>G (n.13+5863A>G) c.279+9131A>G (n.279+9131A>G) c.175A>G (p.Ser59Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |