| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.12294760G>A | CA12225158 | EDN1 | c.533+356G>A (n.533+356G>A) c.530+356G>A (n.530+356G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294760G= | CA1610829524 | EDN1 | c.533+356G= (n.533+356G=) c.530+356G= (n.530+356G=) | dbSNP |