Table 1.

Specific mutations identified in KOT

Study	NBCCS versus sporadic	Mutation
Barreto et al. [48]	NBCCS	Nonsense mutation (C2760A)
	NBCCS	Missense mutation (G3499A)
	Sporadic	5-base pair deletion exon 3 (518delAAGCG)
Zedan et al. [47]	NBCCS	Tandem CC → TT substitution intron exon 2 (proximal to the immunogenic sequence)
	NBCCS	AAA deletion intron exon 11, insertion exon 14
	NBCCS	8-base pair deletion exon 3
	NBCCS	G deletion intron 17, tandem GG → TT substitution exon 17
	Sporadic	G → A substitution exon 8
	Sporadic	C insertion exon 13
	Sporadic	C insertion exon 8