| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Symptom | Hereditary pattern | Ethnic origin | Onset | Origin | Reference |
| N | 463 | 1 | T | Q155X | 1 | Gln->Stop at codon 155 | cerulean cataract with peripheral bluish and white opacifications in concentric layers | AD | American | early | germinal | Litt (1997) Hum. Mol. Genet. 6, 665. |
| N | 463 | 1 | T | Q155X | 1 | Gln->Stop at codon 155 | Coppock-like cataract with a purvelulent opacification of the embryonal nucleus | AD | Swiss | early | germinal | Gill (2000) Invest. Ophthalmol. Vis. Sci. 41, 159. |