| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33177700G>A | CA3751142 | COL11A2 | c.452C>T c.1879C>T (p.Arg627Ter) c.1558C>T (p.Arg520Ter) c.1621C>T (p.Arg541Ter) n.98C>T c.1033C>T (p.Arg345Ter) c.1165C>T (p.Arg389Ter) c.985C>T (p.Arg329Ter) c.922C>T (p.Arg308Ter) c.766C>T (p.Arg256Ter) c.697C>T (p.Arg233Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.33177700G= | CA1619899731 | COL11A2 | c.452C= c.1879C= (p.Arg627=) c.1558C= (p.Arg520=) c.1621C= (p.Arg541=) n.98C= c.1033C= (p.Arg345=) c.1165C= (p.Arg389=) c.985C= (p.Arg329=) c.922C= (p.Arg308=) c.766C= (p.Arg256=) c.697C= (p.Arg233=) | dbSNP |
| 6 | g.33177700G>T | CA449885212 | COL11A2 | c.452C>A c.1879C>A (p.Arg627=) c.1558C>A (p.Arg520=) c.1621C>A (p.Arg541=) n.98C>A c.1033C>A (p.Arg345=) c.1165C>A (p.Arg389=) c.985C>A (p.Arg329=) c.922C>A (p.Arg308=) c.766C>A (p.Arg256=) c.697C>A (p.Arg233=) | dbSNP gnomAD v4 |