Table 1.

Frequency of Mutations and Molecular Consequence

	Mutation Type	n (%)	Consequence
			Inframe n (%)	Outframe n (%)
Large Mutations 50 (72.4%)	Large deletionsa	40 (58%)	7 (17.5%)	31 (77.5%)
Small mutations 8 (11.6%)	Large Duplications	10 (14.5%)	4 (40.0%)	6 (60.0%)
Point Mutations 11 (15.9%)	Nonsense	8 (11.6%)	NA	NA
	Splice Site	3 (4.3%)	NA	NA
	Missense	0 (0%)	NA	NA
TOTAL: 69

Notes: ^aTwo cases of large deletions involved the first methionine and the consequence was not determined.

Abbreviation: NA, not applied.