Molecular Vision: Rojanaporn, Mol Vis 2018; 24:778-788. Table 1

Table 1. Summary of germline RB1 mutations (small-scale mutations) identified in retinoblastoma patients.

ID	Location	DNA variation	Expected consequence	phenotype	Times found in rb1-lsdb
RB294^#	Ex 18	g.150037C>T	p.Arg579*	Bi	94
RB581^#	Ex 18	g.150037C>T	p.Arg579*	Bi	94
RB630^##	Ex 14	g.76460C>T	p.Arg455*	Bi	62
RB683^##	Ex 14	g.76460C>T	p.Arg455*	Bi	62
RB414	Ex 4	g.41954G>T	p.Glu137*	Bi	10
RB488	Ex 23	g.162237C>T	p.Arg787*	Bi	68
RB047	Ex 22	g.162021G>T	p.Glu746*	Uni	4
RB988	Ex 14	g.76430C>T	p.Arg445*	Bi	79
RB654	Ex 17	g.78250C>T	p.Arg556*	Bi	49
RB960	In 24	g.170405_170408del	Splice	Bi	10
RB140	In 19	g.156692G>C	Splice	Bi	Novel^$
RB231	In 15	g.76921G>A	Splice	Bi	2
RB410^$$	Ex 2	g.5550G>A	Splice	Familial Bi	3
RB851	In 21	g.160835G>A	Splice	Bi	1
RB844	In 9	g.61808G>A	Splice	Uni	1
RB453	In 6	g.45867G>T	Splice	Uni	21
RB709	Ex 1	g.2151_2152del	p.Glu31Glyfs*17	Uni	Novel
RB037	Ex 10	g.64395del	p.Leu335Phefs*14	Bi	1
RB339	Ex 18	g.150044del	p.Gly581Aspfs*30	Bi	Novel
RB103	Ex 15	g.76896del	p.Glu466Aspfs*12	Bi	Novel
RB723	Ex 1	g.2142C>G	p.Pro28Arg	Uni	Novel
RB380	Ex 20	g.156704G>C	p.Ala658Pro	Bi	Novel^$
RB150	Ex 21	g.160740G>A	p.Cys706Tyr	Bi	2
RB680	Promoter	g.1862G>A	-	Bi	5
RB214^###	Promoter	g.1825G>A	-	Uni	Novel
RB187^###	Promoter	g.1825G>A	-	Uni	Novel

The numbering of DNA and amino acid sequences refers to the reference sequences of accession number L11910 and NP_000312, respectively. ^$Point mutation has the identical genomic position reported in the RB1 locus specific database (RB1-lsdb.d-lohmann.de/) but is substituted with a different nucleotide. ^$$One case with familial RB found in this study. ^{#, ##, ###} patients have the identical mutation. Abbreviations: Ex, Exon; In, Intron; Bi, bilateral RB; Uni, Unilateral RB.