| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449425C>G | CA331945 | KCNE1 | c.210G>C (p.Lys70Asn) c.13+5961G>C (n.13+5961G>C) c.279+9229G>C (n.279+9229G>C) c.273G>C (p.Lys91Asn) | ClinVar dbSNP gnomAD v4 |
| 21 | g.34449425C= | CA2387113414 | KCNE1 | c.210G= (p.Lys70=) c.13+5961G= (n.13+5961G=) c.279+9229G= (n.279+9229G=) c.273G= (p.Lys91=) | dbSNP |