| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449261G>A | CA176419 | KCNE1 | c.374C>T (p.Thr125Met) c.13+6125C>T (n.13+6125C>T) c.279+9393C>T (n.279+9393C>T) c.437C>T (p.Thr146Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.34449261G= | CA2387113330 | KCNE1 | c.374C= (p.Thr125=) c.13+6125C= (n.13+6125C=) c.279+9393C= (n.279+9393C=) c.437C= (p.Thr146=) | dbSNP |