| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916129T>C | CA384902555 | ACVRL1 | c.872T>C (p.Leu291Pro) c.1142T>C (p.Leu381Pro) c.620T>C (p.Leu207Pro) n.417T>C c.1184T>C (p.Leu395Pro) c.147T>C c.353T>C (p.Leu118Pro) | ClinVar dbSNP |
| 12 | g.51916129T= | CA2036236956 | ACVRL1 | c.872T= (p.Leu291=) c.1142T= (p.Leu381=) c.620T= (p.Leu207=) n.417T= c.1184T= (p.Leu395=) c.147T= c.353T= (p.Leu118=) | dbSNP |