| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33172564C>T | CA137067926 | COL11A2 | c.2864G>A (p.Gly955Glu) c.2543G>A (p.Gly848Glu) c.2606G>A (p.Gly869Glu) n.272+4445G>A c.2018G>A (p.Gly673Glu) c.2150G>A (p.Gly717Glu) c.1970G>A (p.Gly657Glu) c.1907G>A (p.Gly636Glu) c.1751G>A (p.Gly584Glu) c.1682G>A (p.Gly561Glu) | dbSNP |
| 6 | g.33172564C= | CA1619897561 | COL11A2 | c.2864G= (p.Gly955=) c.2543G= (p.Gly848=) c.2606G= (p.Gly869=) n.272+4445G= c.2018G= (p.Gly673=) c.2150G= (p.Gly717=) c.1970G= (p.Gly657=) c.1907G= (p.Gly636=) c.1751G= (p.Gly584=) c.1682G= (p.Gly561=) | dbSNP |