| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915305C>T | CA384900562 | ACVRL1 | c.583C>T (p.Leu195Phe) c.853C>T (p.Leu285Phe) c.331C>T (p.Leu111Phe) c.895C>T (p.Leu299Phe) c.64C>T (p.Leu22Phe) | ClinVar dbSNP |
| 12 | g.51915305C= | CA2036269453 | ACVRL1 | c.583C= (p.Leu195=) c.853C= (p.Leu285=) c.331C= (p.Leu111=) c.895C= (p.Leu299=) c.64C= (p.Leu22=) | dbSNP |