| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920766C>G | CA384905272 | ACVRL1 | c.1115C>G (p.Ser372Ter) c.1385C>G (p.Ser462Ter) c.863C>G (p.Ser288Ter) c.1427C>G (p.Ser476Ter) c.596C>G (p.Ser199Ter) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51920766C= | CA2036241665 | ACVRL1 | c.1115C= (p.Ser372=) c.1385C= (p.Ser462=) c.863C= (p.Ser288=) c.1427C= (p.Ser476=) c.596C= (p.Ser199=) | dbSNP |