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
/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]