Appendix 5 of Singh, Mol Vis 2016; 22:1036-1047.


Appendix 5. Indication of genetic mosaicism in the unilateral Rb (URb) cases.

To access the data, click or select the words “Appendix 5.” In the sample RB12, NGS data showed that the variant, c.1333C>T, had 21.7% supporting reads (out of 461 reads; A). In the Sanger electropherogram, the identified variant, c.1333C>T, was detectable and the relative peak intensity of the variant nucleotide ‘T’ was weaker as compared to reference nucleotide ‘C’ (B). In sample RB15, NGS data showed that the variant, c.1363C>T, had 17% supporting reads (out of 909 reads; C). In the Sanger electropherogram, the identified variant, c.1363C>T, was detectable and the relative peak intensity of the variant nucleotide ‘T’ was weaker as compared to reference nucleotide ‘C’ (D).