| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33174534C>G | CA363644128 | COL11A2 | c.996G>C c.2423G>C (p.Gly808Ala) c.2102G>C (p.Gly701Ala) c.2165G>C (p.Gly722Ala) n.272+2475G>C c.1577G>C (p.Gly526Ala) c.1709G>C (p.Gly570Ala) c.1529G>C (p.Gly510Ala) c.1466G>C (p.Gly489Ala) c.1310G>C (p.Gly437Ala) c.1241G>C (p.Gly414Ala) | ClinVar dbSNP |
| 6 | g.33174534C>T | CA257711 | COL11A2 | c.996G>A c.2423G>A (p.Gly808Glu) c.2102G>A (p.Gly701Glu) c.2165G>A (p.Gly722Glu) n.272+2475G>A c.1577G>A (p.Gly526Glu) c.1709G>A (p.Gly570Glu) c.1529G>A (p.Gly510Glu) c.1466G>A (p.Gly489Glu) c.1310G>A (p.Gly437Glu) c.1241G>A (p.Gly414Glu) | ClinVar dbSNP COSMIC |
| 6 | g.33174534C= | CA1619898436 | COL11A2 | c.996G= c.2423G= (p.Gly808=) c.2102G= (p.Gly701=) c.2165G= (p.Gly722=) n.272+2475G= c.1577G= (p.Gly526=) c.1709G= (p.Gly570=) c.1529G= (p.Gly510=) c.1466G= (p.Gly489=) c.1310G= (p.Gly437=) c.1241G= (p.Gly414=) | dbSNP |