| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916111A>T | CA384902432 | ACVRL1 | c.854A>T (p.Tyr285Phe) c.1124A>T (p.Tyr375Phe) c.602A>T (p.Tyr201Phe) n.399A>T c.1166A>T (p.Tyr389Phe) c.129A>T c.335A>T (p.Tyr112Phe) | ClinVar dbSNP |
| 12 | g.51916111A>G | CA384902433 | ACVRL1 | c.854A>G (p.Tyr285Cys) c.1124A>G (p.Tyr375Cys) c.602A>G (p.Tyr201Cys) n.399A>G c.1166A>G (p.Tyr389Cys) c.129A>G c.335A>G (p.Tyr112Cys) | ClinVar dbSNP |
| 12 | g.51916111A= | CA2036236895 | ACVRL1 | c.854A= (p.Tyr285=) c.1124A= (p.Tyr375=) c.602A= (p.Tyr201=) n.399A= c.1166A= (p.Tyr389=) c.129A= c.335A= (p.Tyr112=) | dbSNP |