| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.157770386T>C | CA278984 | ACVR1 | c.772A>G (p.Arg258Gly) n.789A>G n.980A>G | ClinVar dbSNP COSMIC |
| 2 | g.157770386T>G | CA429594275 | ACVR1 | c.772A>C (p.Arg258=) n.789A>C n.980A>C | dbSNP gnomAD v2 |
| 2 | g.157770386T= | CA1301098263 | ACVR1 | c.772A= (p.Arg258=) n.789A= n.980A= | dbSNP |