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Table 1 Rare variants of FBLIM1 gene identified in 18 patients affected by Chronic Non-Bacterial Osteomyelitis

From: High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)

  rs Change Amino acid changes MAF Variant Patients
1 rs540511146 c.65G > A p.Arg22His A = 0.00011 missense P12
2 rs201006671 c.-20-49G > T N/A T = 0.0033 intron P18
3 rs76050903 c.-20-48C > A N/A A = 0.0033 intron P18
4 rs146575757a c.113G > A p.Arg38Gln A = 0.00391 missense P18
5 rs61733331 c.222G > A p.Pro74= A = 0.00675 synonymous P18
6 rs766409425 c.541 + 13G > A N/A A = 0.00003 intron P7
7 rs187479896 c.717 + 14A > G N/A G = 0.00083 intron P13
8 rs41310367 a c.250 + 32C > A N/A T = 0.0191 intron P3; P11
9 rs140170023 c.447G > A p.Ala149= A = 0.01200 synonymous P2, P3, P4, P5, P6, P8, P9, P10, P13, P15
10 rs114077715 a c.931G > A p.Gly311Arg A = 0.01955 missense P18; P16
11 rs144567113 c.718-29C > T N/A T = 0.01515 intron P1; P14; P17
  1. avariants already described [8]
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Pediatric Rheumatology

ISSN: 1546-0096