| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915306T>C | CA384900566 | ACVRL1 | c.584T>C (p.Leu195Pro) c.854T>C (p.Leu285Pro) c.332T>C (p.Leu111Pro) c.896T>C (p.Leu299Pro) c.65T>C (p.Leu22Pro) | ClinVar dbSNP |
| 12 | g.51915306T= | CA2036269454 | ACVRL1 | c.584T= (p.Leu195=) c.854T= (p.Leu285=) c.332T= (p.Leu111=) c.896T= (p.Leu299=) c.65T= (p.Leu22=) | dbSNP |