| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47994041G>A | CA127158 | COL2A1 | c.616C>T (p.Arg206Cys) c.823C>T (p.Arg275Cys) c.967C>T (p.Arg323Cys) c.964C>T (p.Arg322Cys) c.757C>T (p.Arg253Cys) c.277C>T (p.Arg93Cys) | ClinVar dbSNP |
| 12 | g.47994041G= | CA2034477744 | COL2A1 | c.616C= (p.Arg206=) c.823C= (p.Arg275=) c.967C= (p.Arg323=) c.964C= (p.Arg322=) c.757C= (p.Arg253=) c.277C= (p.Arg93=) | dbSNP |