Table 3.

RB1 variants identified by targeted NGS in tumor samples of RB patient

Patient no	cDNA change	Amino acid change	Functional consequence
RB9	c.380G > A/c.1363C > T	p.S127N/p.R455X	Missense-Altered splicing/Premature Protein Termination
RB10	c.763C > T*	p.R255X*	Premature Protein Termination
RB12	c. 1072C > T*	p.R358X*	Premature Protein Termination
RB22	c.1732_1733delGinsTT*	p.D578LfsX6 *	Frameshift
RB29	c.1654C > T*	p.R552X*	Premature Protein Termination
RB31	c.409 G > T/c.751 C > T	p.E137X/p.R251X	Premature Protein Termination Premature Protein Termination

Novel variant is marked in bold. In patients RB10, RB12, RB22 and RB29, homozygous variants (marked with *) were identified. All the variants given in the table were somatic variants as they were detected only in patient’s tumor but not in blood samples of patient and family members.