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

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

rs146575757^a

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