| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449481C>T | CA331920 | KCNE1 | c.154G>A (p.Gly52Arg) c.13+5905G>A (n.13+5905G>A) c.279+9173G>A (n.279+9173G>A) c.217G>A (p.Gly73Arg) | ClinVar dbSNP gnomAD v4 |
| 21 | g.34449481C= | CA2387113451 | KCNE1 | c.154G= (p.Gly52=) c.13+5905G= (n.13+5905G=) c.279+9173G= (n.279+9173G=) c.217G= (p.Gly73=) | dbSNP |