|
Baker et al. 2010
|
NA
|
NA
|
BBS1
|
|
|
|
|
M
|
20-39
|
27
|
1
|
1
|
1
|
|
|
|
|
|
|
United Kingdom
|
|
|
Fan et al. 2004
|
GC3Y
|
PID 22
|
BBS1
|
c.1179T>G/c.1179T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
42
|
1
|
1
|
0
|
|
|
0
|
|
|
|
Newfoundland
|
|
|
Bennouna-Greene et al. 2011
|
NX9Z
|
01.02.03
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
53
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Fan et al. 2004
|
GC3Y
|
PID 9
|
BBS1
|
c.1179T>G/c.1179T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
[]
|
F
|
40+
|
62
|
1
|
1
|
0
|
|
1
|
1
|
|
|
|
Newfoundland
|
|
|
Bennouna-Greene et al. 2011
|
GIZN
|
01.03.04
|
BBS1
|
|
p.Met390Arg/p.Glu384*
|
MS/cLOF
|
|
F
|
20-39
|
28
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
I8TW
|
01.07.10
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
21
|
0
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
I8TW
|
01.07.15
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
18
|
0
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
TFG2
|
05.02.07
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
34
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
Q3SV
|
06.01.01
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
33
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
2KMJ
|
06.02.04
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
2KMJ
|
06.02.05
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
20-39
|
21
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
XI3Q
|
1.16.25
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
38
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
K7Y0
|
1.4.c
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
17
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
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
|
|
|
Gerth et al. 2008
|
QWKB
|
2293
|
BBS1
|
|
p.Met390Arg/p.Asn524del
|
MS/MS
|
|
M
|
20-39
|
21
|
1
|
1
|
|
|
|
0
|
|
0
|
1
|
Canada
|
|
|
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
|
|
|
Gerth et al. 2008
|
BBNF
|
2301
|
BBS1
|
|
p.Asp8Asp (splice)/p.Arg483*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
1
|
1
|
Canada
|
|
|
Gerth et al. 2008
|
O76S
|
2512
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
0
|
0
|
|
0
|
|
0
|
|
Canada
|
|
|
Gerth et al. 2008
|
NSTJ
|
2597
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
21
|
1
|
1
|
1
|
1
|
|
0
|
|
0
|
|
Canada
|
|
|
Branfield Day et al. 2015
|
NA
|
15
|
BBS1
|
|
|
|
|
F
|
20-39
|
23
|
|
1
|
|
|
|
1
|
|
0
|
|
NA
|
|