| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47975971C>T | CA250671 | COL2A1 | c.3382G>A (p.Gly1128Ser) c.3589G>A (p.Gly1197Ser) n.2675G>A n.442G>A c.3733G>A (p.Gly1245Ser) c.3730G>A (p.Gly1244Ser) c.2677G>A (p.Gly893Ser) c.3523G>A (p.Gly1175Ser) c.3043G>A (p.Gly1015Ser) | ClinVar dbSNP |
| 12 | g.47975971C>G | CA384537268 | COL2A1 | c.3382G>C (p.Gly1128Arg) c.3589G>C (p.Gly1197Arg) n.2675G>C n.442G>C c.3733G>C (p.Gly1245Arg) c.3730G>C (p.Gly1244Arg) c.2677G>C (p.Gly893Arg) c.3523G>C (p.Gly1175Arg) c.3043G>C (p.Gly1015Arg) | ClinVar dbSNP |