| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47978698G>A | CA281739 | COL2A1 | c.2587C>T (p.Arg863Ter) c.2794C>T (p.Arg932Ter) n.1880C>T c.2938C>T (p.Arg980Ter) c.2935C>T (p.Arg979Ter) c.1882C>T (p.Arg628Ter) c.2728C>T (p.Arg910Ter) c.2248C>T (p.Arg750Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978698G= | CA2034476999 | COL2A1 | c.2587C= (p.Arg863=) c.2794C= (p.Arg932=) n.1880C= c.2938C= (p.Arg980=) c.2935C= (p.Arg979=) c.1882C= (p.Arg628=) c.2728C= (p.Arg910=) c.2248C= (p.Arg750=) | dbSNP |