| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.77903356G>T | CA484395627 | EDNRB,EDNRB-AS1 | c.601C>A (p.Arg201=) c.79C>A (p.Arg27=) c.871C>A (p.Arg291=) n.1695-4336G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.77903356G>A | CA214755 | EDNRB,EDNRB-AS1 | c.601C>T (p.Arg201Ter) c.79C>T (p.Arg27Ter) c.871C>T (p.Arg291Ter) n.1695-4336G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |