| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916182T>C | CA384902882 | ACVRL1 | c.925T>C (p.Trp309Arg) c.1195T>C (p.Trp399Arg) c.673T>C (p.Trp225Arg) n.470T>C c.1237T>C (p.Trp413Arg) c.200T>C c.406T>C (p.Trp136Arg) | ClinVar dbSNP |
| 12 | g.51916182T>G | CA384902880 | ACVRL1 | c.925T>G (p.Trp309Gly) c.1195T>G (p.Trp399Gly) c.673T>G (p.Trp225Gly) n.470T>G c.1237T>G (p.Trp413Gly) c.200T>G c.406T>G (p.Trp136Gly) | ClinVar dbSNP |