M'hamdi et al. 2013
|
VK14
|
BBS-F01-A
|
BBS1
|
c.1473+4A>G/c.1473+4A>G
|
splice/splice
|
cLOF/cLOF
|
|
F
|
0-9
|
5
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
QUPE
|
BBS-F09-A
|
BBS1
|
c.1110G>A/c.1110G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
21
|
1
|
1
|
0
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
QUPE
|
BBS-F09-B
|
BBS1
|
c.1110G>A/c.1110G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
H2VL
|
BBS-F11-A
|
BBS1
|
c.448C>T/c.448C>T
|
p.Arg146*/p.Arg146*
|
cLOF/cLOF
|
|
F
|
20-39
|
32
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
H2VL
|
BBS-F11-B
|
BBS1
|
c.448C>T/c.448C>T
|
p.Arg146*/p.Arg146*
|
cLOF/cLOF
|
|
F
|
40+
|
40
|
1
|
1
|
0
|
1
|
0
|
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
7H0X
|
BBS-F12-A
|
BBS1
|
c.39delA/c.39delA
|
p.Ala14Leufs*28/p.Ala14Leufs*28
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
14
|
0
|
0
|
0
|
1
|
0
|
1
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
7H0X
|
BBS-F12-B
|
BBS1
|
c.39delA/c.39delA
|
p.Ala14Leufs*28/p.Ala14Leufs*28
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
4
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
0P3E
|
BBS-F08-A
|
BBS10
|
c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC
|
p.Ser396Leufs*6/p.Ser396Leufs*6
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
0P3E
|
BBS-F08-B
|
BBS10
|
c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC
|
p.Ser396Leufs*6/p.Ser396Leufs*6
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
0
|
1
|
1
|
1
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
QJ44
|
BBS-F02-A
|
BBS2
|
c.345+5G>A/c.345+5G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
6
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
FHWS
|
BBS-F07-A
|
BBS2
|
c.565C>T/c.565C>T
|
p.Arg189*/p.Arg189*
|
cLOF/cLOF
|
|
F
|
0-9
|
8
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
5XR9
|
BBS-F03-A
|
BBS4
|
|
deletion of exons 4-6/deletion of exons 4-6
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
4,5
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
U5TO
|
BBS-F13-A
|
BBS5
|
c.149T>G/c.149T>G
|
p.Leu50Arg/p.Leu50Arg
|
MS/MS
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
BK29
|
BBS-F10-A
|
BBS6
|
c.1272+1G>A/c.1272+1G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
UH14
|
BBS-F14-A
|
BBS8
|
c.459+1G>A/c.459+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
M
|
0-9
|
4
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
|
Tunisian
|
|
Deveault et al. 2011
|
2YSJ
|
1
|
BBS1
|
|
p.Arg160Gln/p.Arg160Gln
|
MS/MS
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
Swiss
|
|
Kamme et al. 2016
|
L4YK
|
II-1
|
BBS5
|
c.790G>A/c.790G>A
|
p.Gly264Arg/p.Gly264Arg
|
MS/MS
|
|
M
|
10-19
|
12
|
1
|
1
|
0
|
|
|
|
|
|
|
Swedish
|
|
Kamme et al. 2016
|
L4YK
|
II-2
|
BBS5
|
c.790G>A/c.790G>A
|
p.Gly264Arg/p.Gly264Arg
|
MS/MS
|
|
F
|
20-39
|
28
|
1
|
1
|
0
|
|
1
|
|
|
|
|
Swedish
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:2
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
|
F
|
|
|
1
|
0
|
1
|
1
|
0
|
0
|
0
|
|
0
|
Spanish
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:4
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
[]
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
0
|
Spanish
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:5
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
0
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
SFDV
|
B164 (463)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
44
|
1
|
1
|
1
|
0
|
0
|
0
|
1
|
1
|
1
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
0ZFK
|
B260 (1476)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
46
|
1
|
0
|
1
|
0
|
1
|
0
|
0
|
|
1
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
LX4R
|
GBB23 (2128)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
[]
|
F
|
40+
|
51
|
1
|
1
|
1
|
1
|
|
1
|
1
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
LX4R
|
GBB23 (2129)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
59
|
1
|
1
|
1
|
1
|
|
1
|
1
|
|
|
Spanish
|
|