| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.157770384C>T | CA1919069 | ACVR1 | c.774G>A (p.Arg258=) n.791G>A n.982G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.157770384C>G | CA128038 | ACVR1 | c.774G>C (p.Arg258Ser) n.791G>C n.982G>C | ClinVar dbSNP |
| 2 | g.157770384C= | CA1301098261 | ACVR1 | c.774G= (p.Arg258=) n.791G= n.982G= | dbSNP |