| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47995904G>A | CA281742 | COL2A1 | c.418C>T (p.Arg140Ter) c.625C>T (p.Arg209Ter) c.769C>T (p.Arg257Ter) c.766C>T (p.Arg256Ter) c.559C>T (p.Arg187Ter) c.79C>T (p.Arg27Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47995904G= | CA2034479701 | COL2A1 | c.418C= (p.Arg140=) c.625C= (p.Arg209=) c.769C= (p.Arg257=) c.766C= (p.Arg256=) c.559C= (p.Arg187=) c.79C= (p.Arg27=) | dbSNP |