| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33167305G>A | CA281690 | COL11A2 | n.102C>T c.4135C>T (p.Arg1379Ter) c.3814C>T (p.Arg1272Ter) c.3877C>T (p.Arg1293Ter) n.273-1489C>T c.3289C>T (p.Arg1097Ter) c.3421C>T (p.Arg1141Ter) c.3241C>T (p.Arg1081Ter) c.3178C>T (p.Arg1060Ter) c.3022C>T (p.Arg1008Ter) c.2953C>T (p.Arg985Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33167305G= | CA1619893205 | COL11A2 | n.102C= c.4135C= (p.Arg1379=) c.3814C= (p.Arg1272=) c.3877C= (p.Arg1293=) n.273-1489C= c.3289C= (p.Arg1097=) c.3421C= (p.Arg1141=) c.3241C= (p.Arg1081=) c.3178C= (p.Arg1060=) c.3022C= (p.Arg1008=) c.2953C= (p.Arg985=) | dbSNP |
| 6 | g.33167305G>C | CA363622700 | COL11A2 | n.102C>G c.4135C>G (p.Arg1379Gly) c.3814C>G (p.Arg1272Gly) c.3877C>G (p.Arg1293Gly) n.273-1489C>G c.3289C>G (p.Arg1097Gly) c.3421C>G (p.Arg1141Gly) c.3241C>G (p.Arg1081Gly) c.3178C>G (p.Arg1060Gly) c.3022C>G (p.Arg1008Gly) c.2953C>G (p.Arg985Gly) | dbSNP gnomAD v4 |