| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47974193C>T | CA6534518 | COL2A1 | c.4006G>A (p.Gly1336Ser) c.4213G>A (p.Gly1405Ser) n.3299G>A c.4357G>A (p.Gly1453Ser) c.4354G>A (p.Gly1452Ser) c.3301G>A (p.Gly1101Ser) c.4147G>A (p.Gly1383Ser) c.3667G>A (p.Gly1223Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974193C>G | CA384533615 | COL2A1 | c.4006G>C (p.Gly1336Arg) c.4213G>C (p.Gly1405Arg) n.3299G>C c.4357G>C (p.Gly1453Arg) c.4354G>C (p.Gly1452Arg) c.3301G>C (p.Gly1101Arg) c.4147G>C (p.Gly1383Arg) c.3667G>C (p.Gly1223Arg) | dbSNP |
| 12 | g.47974193C>A | CA384533614 | COL2A1 | c.4006G>T (p.Gly1336Cys) c.4213G>T (p.Gly1405Cys) n.3299G>T c.4357G>T (p.Gly1453Cys) c.4354G>T (p.Gly1452Cys) c.3301G>T (p.Gly1101Cys) c.4147G>T (p.Gly1383Cys) c.3667G>T (p.Gly1223Cys) | dbSNP |
| 12 | g.47974193C= | CA2034471698 | COL2A1 | c.4006G= (p.Gly1336=) c.4213G= (p.Gly1405=) n.3299G= c.4357G= (p.Gly1453=) c.4354G= (p.Gly1452=) c.3301G= (p.Gly1101=) c.4147G= (p.Gly1383=) c.3667G= (p.Gly1223=) | dbSNP |