| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.77903200G>A | CA126745 | EDNRB,EDNRB-AS1 | c.757C>T (p.Arg253Ter) c.235C>T (p.Arg79Ter) c.1027C>T (p.Arg343Ter) n.1695-4492G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 13 | g.77903200G>T | CA7012269 | EDNRB,EDNRB-AS1 | c.757C>A (p.Arg253=) c.235C>A (p.Arg79=) c.1027C>A (p.Arg343=) n.1695-4492G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |