Table 1 of
Wang, Mol Vis 2016; 22:697-704. Table 1 of
Wang, Mol Vis 2016; 22:697-704.
Table 1. Mutations in COL2A1 identified in the probands with Stickler syndrome.
| Family ID | Exon | Mutation | Amino acid change | Inheritance patterns | MAF (%) in 1000G/ EVS | Reported |
|---|---|---|---|---|---|---|
| QT1527 | 1 | c.85C>T | p.(Gln29*) | SC | NA/NA | No |
| QT851 | 48 | c.3356delG | p.(Gly1119Glufs*11) | AD | NA/NA | No |
| QT1589 | 48 | c.3401delG | p.(Gly1134Alafs*93) | AD | NA/NA | No |
| QT1016 /QT1791 | 26 | c.1693C>T | p.(Arg565Cys) | AD | NA/NA | Richards et al. 2000 [5] |
| HM470 | 41 | c.2710C>T | p.(Arg904Cys) | SC | NA/NA | Ballo et al. 1998 [17]; Nagendran et al. 2012 [18] |