| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33171763G>A | CA257707 | COL11A2 | c.3100C>T (p.Arg1034Cys) c.2779C>T (p.Arg927Cys) c.2842C>T (p.Arg948Cys) n.272+5246C>T c.2254C>T (p.Arg752Cys) c.2386C>T (p.Arg796Cys) c.2206C>T (p.Arg736Cys) c.2143C>T (p.Arg715Cys) c.1987C>T (p.Arg663Cys) c.1918C>T (p.Arg640Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.33171763G= | CA1619897197 | COL11A2 | c.3100C= (p.Arg1034=) c.2779C= (p.Arg927=) c.2842C= (p.Arg948=) n.272+5246C= c.2254C= (p.Arg752=) c.2386C= (p.Arg796=) c.2206C= (p.Arg736=) c.2143C= (p.Arg715=) c.1987C= (p.Arg663=) c.1918C= (p.Arg640=) | dbSNP |