| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47978329G>A | CA250676 | COL2A1 | c.2758C>T (p.Arg920Cys) c.2965C>T (p.Arg989Cys) n.2051C>T c.3109C>T (p.Arg1037Cys) c.3106C>T (p.Arg1036Cys) c.2053C>T (p.Arg685Cys) c.2899C>T (p.Arg967Cys) c.2419C>T (p.Arg807Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978329G= | CA2034476828 | COL2A1 | c.2758C= (p.Arg920=) c.2965C= (p.Arg989=) n.2051C= c.3109C= (p.Arg1037=) c.3106C= (p.Arg1036=) c.2053C= (p.Arg685=) c.2899C= (p.Arg967=) c.2419C= (p.Arg807=) | dbSNP |
| 12 | g.47978329G>C | CA384541248 | COL2A1 | c.2758C>G (p.Arg920Gly) c.2965C>G (p.Arg989Gly) n.2051C>G c.3109C>G (p.Arg1037Gly) c.3106C>G (p.Arg1036Gly) c.2053C>G (p.Arg685Gly) c.2899C>G (p.Arg967Gly) c.2419C>G (p.Arg807Gly) | dbSNP |