| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920831delinsTG | CA645294072 | ACVRL1 | c.1180delinsTG (p.Arg394TrpfsTer10) c.1450delinsTG (p.Arg484TrpfsTer10) c.928delinsTG (p.Arg310TrpfsTer10) c.1492delinsTG (p.Arg498TrpfsTer10) c.661delinsTG (p.Arg221TrpfsTer10) | ClinVar dbSNP |
| 12 | g.51920831C= | CA2036241893 | ACVRL1 | c.1180C= (p.Arg394=) c.1450C= (p.Arg484=) c.928C= (p.Arg310=) c.1492C= (p.Arg498=) c.661C= (p.Arg221=) | dbSNP dbSNP |