| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916114T>G | CA254367 | ACVRL1 | c.857T>G (p.Met286Arg) c.1127T>G (p.Met376Arg) c.605T>G (p.Met202Arg) n.402T>G c.1169T>G (p.Met390Arg) c.132T>G c.338T>G (p.Met113Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916114T= | CA2036236907 | ACVRL1 | c.857T= (p.Met286=) c.1127T= (p.Met376=) c.605T= (p.Met202=) n.402T= c.1169T= (p.Met390=) c.132T= c.338T= (p.Met113=) | dbSNP |