| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449606G>A | CA211441 | KCNE1 | c.29C>T (p.Thr10Met) c.13+5780C>T (n.13+5780C>T) c.279+9048C>T (n.279+9048C>T) c.92C>T (p.Thr31Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.34449606G= | CA2387113526 | KCNE1 | c.29C= (p.Thr10=) c.13+5780C= (n.13+5780C=) c.279+9048C= (n.279+9048C=) c.92C= (p.Thr31=) | dbSNP |