| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920816C>T | CA16042853 | ACVRL1 | c.1165C>T (p.Arg389Ter) c.1435C>T (p.Arg479Ter) c.913C>T (p.Arg305Ter) c.1477C>T (p.Arg493Ter) c.646C>T (p.Arg216Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920816C= | CA2036241824 | ACVRL1 | c.1165C= (p.Arg389=) c.1435C= (p.Arg479=) c.913C= (p.Arg305=) c.1477C= (p.Arg493=) c.646C= (p.Arg216=) | dbSNP |
| 12 | g.51920816C>A | CA479816697 | ACVRL1 | c.1165C>A (p.Arg389=) c.1435C>A (p.Arg479=) c.913C>A (p.Arg305=) c.1477C>A (p.Arg493=) c.646C>A (p.Arg216=) | dbSNP gnomAD v4 |