| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915483G>A | CA119408 | ACVRL1 | c.761G>A (p.Cys254Tyr) c.1031G>A (p.Cys344Tyr) c.509G>A (p.Cys170Tyr) c.1073G>A (p.Cys358Tyr) c.36G>A c.242G>A (p.Cys81Tyr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915483G>T | CA384901742 | ACVRL1 | c.761G>T (p.Cys254Phe) c.1031G>T (p.Cys344Phe) c.509G>T (p.Cys170Phe) c.1073G>T (p.Cys358Phe) c.36G>T c.242G>T (p.Cys81Phe) | ClinVar dbSNP |
| 12 | g.51915483G= | CA2036236234 | ACVRL1 | c.761G= (p.Cys254=) c.1031G= (p.Cys344=) c.509G= (p.Cys170=) c.1073G= (p.Cys358=) c.36G= c.242G= (p.Cys81=) | dbSNP |