| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920849C>T | CA384906013 | ACVRL1 | c.1198C>T (p.Gln400Ter) c.1468C>T (p.Gln490Ter) c.946C>T (p.Gln316Ter) c.1510C>T (p.Gln504Ter) c.679C>T (p.Gln227Ter) | ClinVar dbSNP |
| 12 | g.51920849C= | CA2036241958 | ACVRL1 | c.1198C= (p.Gln400=) c.1468C= (p.Gln490=) c.946C= (p.Gln316=) c.1510C= (p.Gln504=) c.679C= (p.Gln227=) | dbSNP |