Supplementary Table. the Distribution of Known Single Nucleotide Polymorphisms Found In

Supplementary table. The distribution of known single nucleotide polymorphisms found in our 25 patients. Genotype frequency is listed according to ENSEMBL database.

dbSNP / Change / Location in the NF1 gene / Functional consequence / Number of cases with SNP / Genotype frequency (ENSEMBL)
rs17881168 / c.168C>T / exon 2 / synonymous S56S / 1x / C/C 0.985 / C/T 0.015 / NA
rs2952976 / c.288+41G>A / exon 3 / intron variant / 15x / A/A 0.338 / A/G 0.421 / G/G 0.241
rs182325576 / c.655-29T>C / exon 7 / intron variant / 1x / NA / C/T 0.003 / T/T 0.997
rs1801052 / c.702G>A / exon 7 / synonymous L234L / 11x / A/A 0.34 / A/G 0.419 / G/G 0.241
rs2905876 / c.1393-32T>C / exon 13 / intron variant / 4x / C/C 0.33 / C/T 0.384 / T/T 0.287
rs2905880 / c.1641+39T>C / exon 14 / intron variant / 16x / C/C 0.33 / C/T 0.384 / T/T 0.287
rs2285892 / c.2034G>A / exon 18 / synonymous P678P / 6x / A/A 0.255 / A/G 0.43 / G/G 0.314
rs2066736 / c.3496+33C>A / exon 26 / intron variant / 7x / A/A 0.206 / A/C 0.437 / C/C 0.357
rs72813695 / c.3974+46T>G / exon 29 / intron variant / 2x / NA / G/T 1.000 / NA
rs371036783 / c.3974+34_3974+35insTG / exon 29 / intron variant / 2x / NA / NA / NA
rs17887014 / c.5235G>A / exon 37 / synonymous K1745K / 1x / NA / A/G 0.007 / G/G 0.993
rs9894648 / c.5268+23T>C / exon 37 / intron variant / 6x / C/C 0.379 / C/T 0.453 / T/T 0.168
rs2285894 / c.5546+19T>A / exon 38 / intron variant / 7x / A/A 0.217 / A/T 0.451 / T/T 0.332
rs7405740 / c.7126+37C>G / exon 48 / intron variant / 12x / C/C 0.02 / C/G 0.204 / G/G 0.776
rs964288 / c.7458-29G>A / exon 51 / intron variant / 5x / A/A 0.217 / A/G 0.451 / G/G 0.332
rs2285895 / c.8088G>A / exon 56 / synonymous P2717P / 1x / NA / A/G 0.018 / G/G 0.982