| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33171805G>A | CA16618279 | COL11A2 | c.3058C>T (p.Arg1020Ter) c.2737C>T (p.Arg913Ter) c.2800C>T (p.Arg934Ter) n.272+5204C>T c.2212C>T (p.Arg738Ter) c.2344C>T (p.Arg782Ter) c.2164C>T (p.Arg722Ter) c.2101C>T (p.Arg701Ter) c.1945C>T (p.Arg649Ter) c.1876C>T (p.Arg626Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171805G= | CA1619897218 | COL11A2 | c.3058C= (p.Arg1020=) c.2737C= (p.Arg913=) c.2800C= (p.Arg934=) n.272+5204C= c.2212C= (p.Arg738=) c.2344C= (p.Arg782=) c.2164C= (p.Arg722=) c.2101C= (p.Arg701=) c.1945C= (p.Arg649=) c.1876C= (p.Arg626=) | dbSNP |