| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.157770468C>T | CA1919082 | ACVR1 | c.690G>A (p.Glu230=) n.707G>A n.898G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.157770468C>G | CA349191505 | ACVR1 | c.690G>C (p.Glu230Asp) n.707G>C n.898G>C | dbSNP |
| 2 | g.157770468C= | CA1301098289 | ACVR1 | c.690G= (p.Glu230=) n.707G= n.898G= | dbSNP dbSNP |