| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916204G>A | CA16614169 | ACVRL1 | c.947G>A (p.Trp316Ter) c.1217G>A (p.Trp406Ter) c.695G>A (p.Trp232Ter) n.492G>A c.1259G>A (p.Trp420Ter) c.222G>A c.428G>A (p.Trp143Ter) | ClinVar dbSNP |
| 12 | g.51916204G= | CA2036237121 | ACVRL1 | c.947G= (p.Trp316=) c.1217G= (p.Trp406=) c.695G= (p.Trp232=) n.492G= c.1259G= (p.Trp420=) c.222G= c.428G= (p.Trp143=) | dbSNP |