| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51919018A>T | CA384903799 | ACVRL1 | c.1010A>T (p.Asp337Val) c.1280A>T (p.Asp427Val) c.758A>T (p.Asp253Val) n.555A>T c.1322A>T (p.Asp441Val) c.285A>T c.491A>T (p.Asp164Val) | ClinVar dbSNP |
| 12 | g.51919018A>G | CA384903797 | ACVRL1 | c.1010A>G (p.Asp337Gly) c.1280A>G (p.Asp427Gly) c.758A>G (p.Asp253Gly) n.555A>G c.1322A>G (p.Asp441Gly) c.285A>G c.491A>G (p.Asp164Gly) | dbSNP gnomAD v4 |
| 12 | g.51919018A= | CA2036239768 | ACVRL1 | c.1010A= (p.Asp337=) c.1280A= (p.Asp427=) c.758A= (p.Asp253=) n.555A= c.1322A= (p.Asp441=) c.285A= c.491A= (p.Asp164=) | dbSNP |