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Table 2 RB1 variants identified by targeted NGS in blood samples of RB patients

From: Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma

Patient no cDNA change Amino acid change Functional consequence Cosegregation in family
RB1 c.-212_-195del   Promoter Deletion Heterozygous Father
RB2 c.1399C > T p.R467X Premature Protein Termination Heterozygous Father
RB4 c.265-9 T > A   Altered Splicing Heterozygous Mother and Sibling
RB11 c.46_74del p.A16AfsX14 Frameshift Heterozygous Mother and three Siblings
RB13 c.751C > T p.R251X Premature Protein Termination De novo
RB14 c.2520 + 4 A > G   Altered Splicing Heterozygous Father
RB15 c.2115_2118del p.M705IfsX8 Frameshift Heterozygous Father
RB16 c.1363C > T p.R455X Premature Protein Termination De novo
RB17 c.1960 + 2 T > A   Altered Splicing Heterozygous Father and Sibling
RB18 c.38_66del p.A13AfsX17 Frameshift De novo
RB19 c.1399 C > T p.R467X Premature Protein Termination Heterozygous Mother
RB24 c.1961_1963del p.654_655del Altered Splicing De novo
RB25 c.1072C > T p.R358X Premature Protein Termination De novo
RB26 c.521 T > A p.L174X Premature Protein Termination De novo
RB27 c.160G > T p.E54X Premature Protein Termination De novo
  1. Novel variants are marked in bold. Cosegregation of the variants was confirmed by Sanger sequencing analysis of the variants in family members.
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