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 |