| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51919062G>C | CA384904131 | ACVRL1 | c.1054G>C (p.Val352Leu) c.1324G>C (p.Val442Leu) c.802G>C (p.Val268Leu) n.599G>C c.1366G>C (p.Val456Leu) c.329G>C c.535G>C (p.Val179Leu) | dbSNP |
| 12 | g.51919062G>A | CA384904129 | ACVRL1 | c.1054G>A (p.Val352Met) c.1324G>A (p.Val442Met) c.802G>A (p.Val268Met) n.599G>A c.1366G>A (p.Val456Met) c.329G>A c.535G>A (p.Val179Met) | ClinVar dbSNP |