Table 2

List of mutations identified in our study

Patient	Sex	Tumour form/type	Mutation	Effect	Localisation	Method of detection	GenBank number
Novel mutations are shown in bold and constitutional mutations are underlined. The mutation nomenclature was based in Dunnen and Antonarakis.²⁶ Nucleotide positions and codon identification numbers are based on the normal RB1 sequence (GenBank accession L11910).
B, bilaterally affected patients; E, exon; F, familial; I, intron; S, sporadic; U, unilaterally affected patients; SEQ, direct DNA sequencing; SSCP¹, single strand conformational polymorphism gel without glycerol; SSCP², single strand conformational polymorphism gel with glycerol.
HC17	Male	S/B	g.5506-5507insAG	R73fsX77	E 2	SEQ	AY282604
			g.78238C>T	R552X	E 17	SSCP²	L41924
HC6	Male	S/U	g.64348C>T	R320X	E 10	SEQ	AF532992
HC1	Male	S/U	g.76429G>A	Abnormal splicing	I 13	SSCP¹	AY124935
HC27	Female	S/B	g.76430C>T	R445X	E 14	SEQ	AF532990
HC7	Female	F/B	g.78238C>T	R552X	E 17	SSCP²	L41924
HC38	Female	F/B	g.78238C>T	R552X	E 17	SSCP²	L41924
HC9	Male	S/B	g.78250C>T	R556X	E 17	SSCP²	L41904
HC3	Male	S/B	g.150037C>T	R579X	E 18	SSCP^1, ²	AF532991
HC19	Female	S/U	g.150037C>T	R579X	E 18	SSCP^1, ²	AF532991
HC22	Male	S/U	g.156795T>C	L688P	E 20	SSCP²	AY124936