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Table 2 Study Participant Characteristics

From: Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study

Patient ID Sex Enrollment Age Range Months Evaluated NF1
Variant
Inheritance
1 F 60–69 96 c.4267A > G (p.K1423E) Sporadic
2 F 60–69 96 c.60 + 1G > A Sporadic
3 F 50–59 96 c.204 + 1G > A Familial
4 M 50–59 96 c.5453delT Familial
5 M 30–39 96 c.2693 T > C (p.L898P) Familial
6 M 40–49 24 c.3113 + 1G > A Sporadic
7 F 40–49 96 c.1527 + 1167C > G Sporadic
8 F 30–39 24 c.3379delA Familial
9 M 30–39 24 c.288 + 1G > T Familial
13 F 40–49 24 c.2446C > T (p.R816X) Familial
14 M 60–69 96 c.2041C > T (p.R681X) Familial
15 F 40–49 24 c.2044C > T (p.Q682X) Familial
16 M 70–79 24 c.1536dupA Sporadic
18 M 40–49 96 c.3639_3641delAAT Familial
19 M 50–59 96 c.7127-4insAlu Familial
20 M 40–49 96 c.1890_1918dupT Sporadic
21 F 30–39 96 c.6662delC Familial
22 M 60–69 96 c.6138dupT Familial
23 F 40–49 24 c.7519C > T (p.Q2507X) Sporadic
24 F 60–69 24 c.7806 + 1G > A Familial
25 F 30–39 96 c.7486C > T (p.R2496X) Familial
26 F 60–69 96 c.7486C > T (p.R2496X) Familial