| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.77901181C>A | CA126743 | EDNRB,EDNRB-AS1 | c.828G>T (p.Trp276Cys) c.306G>T (p.Trp102Cys) c.1098G>T (p.Trp366Cys) n.1695-6511C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.77901181C= | CA2103861160 | EDNRB,EDNRB-AS1 | c.828G= (p.Trp276=) c.306G= (p.Trp102=) c.1098G= (p.Trp366=) n.1695-6511C= | dbSNP |
| 13 | g.77901181C>T | CA388452162 | EDNRB,EDNRB-AS1 | c.828G>A (p.Trp276Ter) c.306G>A (p.Trp102Ter) c.1098G>A (p.Trp366Ter) n.1695-6511C>T | dbSNP gnomAD v4 |