Table 3.

Mutations identified in RB patients

Patient	Exon	DNA position (GRCh37)	Mutation	Consequence	Reference#
AP701348	Exon 1	g. 48878093	c.45_79 del TGCCGCCGCGGAACCCCC GGCACCGCCGCCGC/-	p.A15X p.A16fs*3	COSM29200
AP700763	Exon 1	g. 48878103	C.55_57delGA	p.E19X*
AP700069	Exon 6	g. 48923151	c.600_601insT TTA >TTT	p.L200fs
AP700815	Intron 6	g. 48923159	c.607+1 G>T	Splicing
AP700815	Exon 15	g. 48954199	c.1420 A>G AGC>GGC	p.S474G
AP700826	Exon 17	g.48955529	c.1646 A>T CAT>CTT	p. H549L
AP700603	Exon 19	g. 49030468*	c.1942 C>A TCA>TAA	p. S648X
AP700759	Exon 19	g. 49030457	C.1931 C>A TCT>TAT	P.S644Y
AP700480	Exon 25	g.49050889	c.2272 G/A GTG> GAG	p.V858M

^*de novo mutation;

^#Catalogue of somatic mutations in cancer (COSMIC)