| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33176294C>G | CA363649349 | COL11A2 | c.752G>C c.2179G>C (p.Gly727Arg) c.1858G>C (p.Gly620Arg) c.1921G>C (p.Gly641Arg) n.272+715G>C c.1333G>C (p.Gly445Arg) c.1465G>C (p.Gly489Arg) c.1285G>C (p.Gly429Arg) c.1222G>C (p.Gly408Arg) c.1066G>C (p.Gly356Arg) c.997G>C (p.Gly333Arg) | ClinVar dbSNP |
| 6 | g.33176294C>T | CA3751011 | COL11A2 | c.752G>A c.2179G>A (p.Gly727Arg) c.1858G>A (p.Gly620Arg) c.1921G>A (p.Gly641Arg) n.272+715G>A c.1333G>A (p.Gly445Arg) c.1465G>A (p.Gly489Arg) c.1285G>A (p.Gly429Arg) c.1222G>A (p.Gly408Arg) c.1066G>A (p.Gly356Arg) c.997G>A (p.Gly333Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.33176294C>A | CA16605528 | COL11A2 | c.752G>T c.2179G>T (p.Gly727Ter) c.1858G>T (p.Gly620Ter) c.1921G>T (p.Gly641Ter) n.272+715G>T c.1333G>T (p.Gly445Ter) c.1465G>T (p.Gly489Ter) c.1285G>T (p.Gly429Ter) c.1222G>T (p.Gly408Ter) c.1066G>T (p.Gly356Ter) c.997G>T (p.Gly333Ter) | ClinVar dbSNP gnomAD v4 |