| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.12294025A>G | CA3638692 | EDN1 | c.318A>G (p.Glu106=) c.315A>G (p.Glu105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294025A>T | CA362856684 | EDN1 | c.318A>T (p.Glu106Asp) c.315A>T (p.Glu105Asp) | dbSNP |
| 6 | g.12294025A= | CA1610845872 | EDN1 | c.318A= (p.Glu106=) c.315A= (p.Glu105=) | dbSNP |