Table 1 Description of mutations detected in BHD and TP53 genes in 92 sporadic renal tumours

Gene	Sample	Cell type	Exon	Mutation description	Mutation type	Mutated protein	Mutation origin
BHD	T16	Chromophobe RCC	4	c.103_125(558_580)del23	Frameshift	p.Asn35fs	Possible germline
	T35	Chromophobe RCC	9	c.919(1374)G>T^a	Nonsense	p.Glu307X	Possible germline
	T87a	Chromophobe RCC	9	c.995_998(1450_1453)del4	Frameshift	p.Leu332fs	Somatic
	T87b	Chromophobe RCC	9	c.1062(IVS9)+2T>G	Predicted splice mutation	x	Germline
	T87b	Chromophobe RCC	11	c.1179(1634)delC	Frameshift	p.Thr393fs	Somatic
	T68	Chromophobe RCC	11	c.1177(IVS10)-6delCCT	Predicted splice mutation	x	Somatic
	T68	Chromophobe RCC	13	c.1433(IVS12)-2A>T	Predicted splice mutation	x	Somatic
	T55	Oncocytoma	14	c.1659(2114)G>A	Nonsense	p.Trp553X	Somatic
TP53	T70	Chromophobe RCC	4	c.150_157del8^b	Frameshift	p.Ile50fs	ND
	T75	Chromophobe RCC	4	c.375G>A^c	Predicted splice mutation	p.Thr125Thr	ND
	T72	Chromophobe RCC	5	c.393_395delCAA	In frame deletion	p.Asn131del	Somatic
	T41	Chromophobe RCC	5	c.469G>T	Missense	p.Val157Phe	Somatic
	T66	Chromophobe RCC	6	c.569delC	Frameshift	p.Pro190fs	Somatic
	T34	Chromophobe RCC	6	c.644G>T	Missense	p.Ser215Ile	Somatic
	T33	Chromophobe RCC	7	c.757A>G	Missense	p.Thr253Ala	Somatic
	T43	Chromophobe RCC	8	c.817C>T	Missense	p.Arg273Cys	Somatic
	T63	Chromophobe RCC	8	c.832C>A	Missense	p.Pro278Thr	ND
	T45	Chromophobe RCC	8	c.877dupA	Frameshift	p.Gly293fs	ND
	T62	Chromophobe RCC	10	c.1009C>T	Missense	p.Arg337Cys	ND
	T9	Clear cell RCC	5	c.467G>A	Missense	p.Arg156His	Possible germline
	T26	Papillary RCC	8	c.832C>A	Missense	p.Pro278Thr	Somatic

Abbreviations: BHD=Birt–Hogg–Dubé; ND=Not determined owing to the unavailability of matched normal tissue.
^aFor BHD, c. corresponds to coding sequence relative to ATG in exon 4 (Genbank accession number NM_144997). Numbers in brackets are refering to the previous nomenclature used (Genbank accession number AF517523).
^bFor TP53, c. corresponds to coding sequence according to ATG in exon 2 (Genbank accession number NM_000546).
^cNot a silent mutation because it involves the last base of exon 4 and has been reported to be responsible for exon skipping.

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