Figure 3 of Singh, Mol Vis 2016; 22:1036-1047.


Figure 3. Types of mutations and spectrum in the retinoblastoma (Rb) cohort. The spectrum of mutation types detected in our cohort was missense, nonsense, splices site, indel, and large deletion types. In overall cases, we detected 11 nonsense, three missense, five splice site variants; eight indels; and six large deletions. In bilateral Rb (BRb) cases, eight nonsense, one missense, three splice site variants; six indels; and four large deletions were detected. In unilateral Rb (URb) cases, one nonsense, one missense, and one splice site variants; one indel; and one large deletion were detected, and in unknown literality cases, two nonsense, one missense, and one splice site variant; one indel, and one large deletion were detected.