| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915402T>C | CA384901237 | ACVRL1 | c.680T>C (p.Ile227Thr) c.950T>C (p.Ile317Thr) c.428T>C (p.Ile143Thr) c.992T>C (p.Ile331Thr) c.161T>C (p.Ile54Thr) | ClinVar dbSNP |
| 12 | g.51915402T= | CA2036269508 | ACVRL1 | c.680T= (p.Ile227=) c.950T= (p.Ile317=) c.428T= (p.Ile143=) c.992T= (p.Ile331=) c.161T= (p.Ile54=) | dbSNP |