| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915270T>C | CA384900434 | ACVRL1 | c.548T>C (p.Leu183Pro) c.818T>C (p.Leu273Pro) c.296T>C (p.Leu99Pro) c.860T>C (p.Leu287Pro) c.29T>C (p.Leu10Pro) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915270T= | CA2036269433 | ACVRL1 | c.548T= (p.Leu183=) c.818T= (p.Leu273=) c.296T= (p.Leu99=) c.860T= (p.Leu287=) c.29T= (p.Leu10=) | dbSNP |