| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915240A>G | CA384900328 | ACVRL1 | c.518A>G (p.Asp173Gly) c.788A>G (p.Asp263Gly) c.266A>G (p.Asp89Gly) c.830A>G (p.Asp277Gly) c.-2A>G (n.-2A>G) | ClinVar dbSNP |
| 12 | g.51915240A= | CA2036269424 | ACVRL1 | c.518A= (p.Asp173=) c.788A= (p.Asp263=) c.266A= (p.Asp89=) c.830A= (p.Asp277=) c.-2A= (n.-2A=) | dbSNP |