| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.59301650C>A | CA9930322 | EDN3 | c.293C>A (p.Thr98Lys) n.934C>A c.130C>A n.682C>A n.691C>A n.690C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.59301650C>T | CA409707016 | EDN3 | c.293C>T (p.Thr98Met) n.934C>T c.130C>T n.682C>T n.691C>T n.690C>T | ClinVar dbSNP |
| 20 | g.59301650C= | CA2372704771 | EDN3 | c.293C= (p.Thr98=) n.934C= c.130C= n.682C= n.691C= n.690C= | dbSNP |