| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51919074C>T | CA16619571 | ACVRL1 | c.1066C>T (p.Gln356Ter) c.1336C>T (p.Gln446Ter) c.814C>T (p.Gln272Ter) n.611C>T c.1378C>T (p.Gln460Ter) c.341C>T c.547C>T (p.Gln183Ter) | ClinVar dbSNP |
| 12 | g.51919074C= | CA2036239878 | ACVRL1 | c.1066C= (p.Gln356=) c.1336C= (p.Gln446=) c.814C= (p.Gln272=) n.611C= c.1378C= (p.Gln460=) c.341C= c.547C= (p.Gln183=) | dbSNP |