| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.59301634C>T | CA409706984 | EDN3 | c.277C>T (p.Arg93Ter) n.918C>T c.114C>T n.666C>T n.675C>T n.674C>T | dbSNP |
| 20 | g.59301634C>G | CA126754 | EDN3 | c.277C>G (p.Arg93Gly) n.918C>G c.114C>G n.666C>G n.675C>G n.674C>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.59301634C= | CA2372704760 | EDN3 | c.277C= (p.Arg93=) n.918C= c.114C= n.666C= n.675C= n.674C= | dbSNP |