| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449414G>C | CA16616500 | KCNE1 | c.221C>G (p.Ser74Trp) c.13+5972C>G (n.13+5972C>G) c.279+9240C>G (n.279+9240C>G) c.284C>G (p.Ser95Trp) | ClinVar dbSNP |
| 21 | g.34449414G>A | CA256871 | KCNE1 | c.221C>T (p.Ser74Leu) c.13+5972C>T (n.13+5972C>T) c.279+9240C>T (n.279+9240C>T) c.284C>T (p.Ser95Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |