Table 1.

Classification of the previously undescribed NF1 mutations.

Type of Mutation, n	Missense (%)	Truncating (%)	Splice (%)	Silent (%)	In-Frame (%)
Single Nucleotide Variants, 45	26 (57.8)	10 (22.2)	6 (13.3)	3 (6.7)	0 (0)
Small Deletions, 44	0 (0)	41 (93.2)	1 (2.3)	0 (0)	2 (4.5)
Small Duplications, 12	0 (0)	12 (100)	0 (0)	0 (0)	0 (0)
Indels, 5	0 (0)	4 (80)	0 (0)	0 (0)	1 (20)
Insertions, 1	0 (0)	1 (100)	0 (0)	0 (0)	0 (0)
Large Deletions, 1	0 (0)	1 (100)	0 (0)	0 (0)	0 (0)
Total, 108	26 (24)	69 (63.9)	7 (6.5)	3 (2.8)	3 (2.8)