| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.77903339C>T | CA10576942 | EDNRB,EDNRB-AS1 | c.618G>A (p.Trp206Ter) c.96G>A (p.Trp32Ter) c.888G>A (p.Trp296Ter) n.1695-4353C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.77903339C>A | CA388451138 | EDNRB,EDNRB-AS1 | c.618G>T (p.Trp206Cys) c.96G>T (p.Trp32Cys) c.888G>T (p.Trp296Cys) n.1695-4353C>A | dbSNP |