| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916042C>A | CA384901981 | ACVRL1 | c.785C>A (p.Ala262Asp) c.1055C>A (p.Ala352Asp) c.533C>A (p.Ala178Asp) n.330C>A c.1097C>A (p.Ala366Asp) c.60C>A c.266C>A (p.Ala89Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916042C= | CA2036236725 | ACVRL1 | c.785C= (p.Ala262=) c.1055C= (p.Ala352=) c.533C= (p.Ala178=) n.330C= c.1097C= (p.Ala366=) c.60C= c.266C= (p.Ala89=) | dbSNP dbSNP |
| 12 | g.51916042C>T | CA384901991 | ACVRL1 | c.785C>T (p.Ala262Val) c.1055C>T (p.Ala352Val) c.533C>T (p.Ala178Val) n.330C>T c.1097C>T (p.Ala366Val) c.60C>T c.266C>T (p.Ala89Val) | ClinVar dbSNP |