Molecular Vision: He, Mol Vis 2014; 20:545-552. Table 1

Table 1. Summary of variants of RB1 in patients with retinoblastoma.

mutation group	mutational type	cDNA change	protein	location	prediction (SIFT/PolyPhen-2)	status #
null mutations	nonsense	c.179T>A	p.L60X	Exon 2	-	novel, pathogenic
	nonsense	c.224G>A	p.W75X	Exon 2	-	pathogenic
	nonsense	c.751C>T	p.R251X	Exon 8	-	pathogenic
	nonsense	c.963C>G	p.Y321X	Exon 10	-	pathogenic
	nonsense	c.967G>T	p.E323X	Exon 10	-	pathogenic
	nonsense	c.1072C>T	p.R358X	Exon 11	-	pathogenic^a
	nonsense	c.1183C>T	p.Q395X	Exon 12	-	pathogenic
	nonsense	c.1333C>T	p.R445X	Exon 14	-	pathogenic^a
	nonsense	c.1363C>T	p.R455X	Exon 14	-	pathogenic^a
	nonsense	c.1399C>T	p.R467X	Exon 15	-	pathogenic^a
	nonsense	c.1689G>A	p.W563X	Exon 17	-	pathogenic
	nonsense	c.1654C>T	p.R552X	Exon 17	-	pathogenic
	nonsense	c.1735C>T (3)	p.R579X	Exon 18	-	pathogenic
	nonsense	c.2359C>T	p.R787X	Exon 23	-	pathogenic
	nonsense	c.2501C>A	p.S834X	Exon 24	-	pathogenic^a
	frameshift	c.142_170del	p.E48YfsX52	Exon 2	-	novel^a, pathogenic
	frameshift	c.1954_1959dupA	p.V654MfsX14	Exon 19	-	novel, pathogenic
	frameshift	c.1947delG	p.L649LfsX9	Exon 19	-	novel^a, pathogenic
	frameshift	c.2403delA	p.G801GfsX9	Exon 23	-	novel^a, pathogenic
	splice	c.607+1G>C	-	Exon 6	-	pathogenic
	splice	c.2490–1G>A	-	Exon 25	-	novel, pathogenic
	gross deletion	-	-	Whole gene deletion (5)	-	pathogenic
	gross deletion	-	-	Del exons 7–17	-	pathogenic
	gross deletion	-	-	Del exons 7–9	-	pathogenic
	gross deletion	-	-	Del exons 13–16	-	pathogenic
in-frame mutations	missense	c.920C>T	p.T307I	Exon 9	tolerated/benign	pathogenic^a
	missense	c.584G>T	p.W195L	Exon 6	damaging/probably damaging	novel, pathogenic
	missense	c.1468G>A	p.A490T	Exon 16	damaging/probably damaging	probably pathogenic ^a MAF0.001 (A)
	missense	c.1861C>A	p.R621S	Exon 19	tolerated/benign	Probably pathogenic^a
	missense	c.2455C>G	p.L819V	Exon 23	tolerated/benign	unknown significant
	missense	c.1346G>A	p.G449E	Exon 14	damaging/probably damaging	pathogenic^a
	missense	c.1981C>T	p.R661W	Exon 20	damaging/probably damaging	pathogenic
	missense	c.1332G>C	p.Q444H	Exon13	damaging/probably damaging	probably pathogenic somatic
	missense	c.1994T>C	p.L665P	Exon20	damaging/probably damaging	pathogenic

* Arabic numbers in the parentheses show the occurrence times for each mutation. # Interpretation of mutations which refer to HGMD, LOVD and thousand genomes. Novel, pathogenic: Sequence variation is previously unreported and is of the type which is expected to cause the disorder; Unknown significant: Sequence variation is a missense mutation that alters an amino acid that is not evolutionarily conserved predicted by bioinformatics tools but is of the type which may or may not be causative of the disorder. MAF: minor allele frequency supported by 1000 genome database. ^a: Reported in our previous study published in Chinese;