| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51914495G>A | CA322926 | ACVRL1 | c.412G>A (p.Val138Ile) c.682G>A (p.Val228Ile) c.160G>A (p.Val54Ile) c.724G>A (p.Val242Ile) c.-108G>A (n.-108G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914495G= | CA2036269044 | ACVRL1 | c.412G= (p.Val138=) c.682G= (p.Val228=) c.160G= (p.Val54=) c.724G= (p.Val242=) c.-108G= (n.-108G=) | dbSNP |