| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449418G>T | CA410198250 | KCNE1 | c.217C>A (p.His73Asn) c.13+5968C>A (n.13+5968C>A) c.279+9236C>A (n.279+9236C>A) c.280C>A (p.His94Asn) | dbSNP gnomAD v4 |
| 21 | g.34449418G>A | CA16620987 | KCNE1 | c.217C>T (p.His73Tyr) c.13+5968C>T (n.13+5968C>T) c.279+9236C>T (n.279+9236C>T) c.280C>T (p.His94Tyr) | ClinVar dbSNP gnomAD v4 |