| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449426T>A | CA331940 | KCNE1 | c.209A>T (p.Lys70Met) c.13+5960A>T (n.13+5960A>T) c.279+9228A>T (n.279+9228A>T) c.272A>T (p.Lys91Met) | ClinVar dbSNP gnomAD v4 |
| 21 | g.34449426T= | CA2387113415 | KCNE1 | c.209A= (p.Lys70=) c.13+5960A= (n.13+5960A=) c.279+9228A= (n.279+9228A=) c.272A= (p.Lys91=) | dbSNP |