Table 2.
RB1 variants identified by targeted NGS in blood samples of RB patients
| 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 |
Novel variants are marked in bold. Cosegregation of the variants was confirmed by Sanger sequencing analysis of the variants in family members.