| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.77901185C>T | CA257559 | EDNRB,EDNRB-AS1 | c.824G>A (p.Trp275Ter) c.302G>A (p.Trp101Ter) c.1094G>A (p.Trp365Ter) n.1695-6507C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.77901185C>G | CA7012234 | EDNRB,EDNRB-AS1 | c.824G>C (p.Trp275Ser) c.302G>C (p.Trp101Ser) c.1094G>C (p.Trp365Ser) n.1695-6507C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |