Shaheen et al. 2016
|
INH9
|
F-192 275
|
BBS14
|
c.4811G>A/c.4811G>A
|
p.Trp1604*/p.Trp1604*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
0
|
|
|
1
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
M87Y
|
F-198 281
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
|
|
|
1
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
XJQC
|
F-27-46
|
BBS19
|
c.296G>A/c.296G>A
|
p.Cys99Tyr/p.Cys99Tyr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
XJQC
|
F-27-47
|
BBS19
|
c.296G>A/c.296G>A
|
p.Cys99Tyr/p.Cys99Tyr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
FIFS
|
F-1-1
|
BBS2
|
c.700C>T/c.700C>T
|
p.Arg234*/p.Arg234*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
7GBT
|
F-15-21
|
BBS2
|
c.1015C>T/c.1015C>T
|
p.Arg339*/p.Arg339*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
VQKL
|
BBS007
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
White European
|
|
Janssen et al. 2011
|
8Y4G
|
AR707 (A2864)-9
|
BBS10
|
c.271_272insT/c.1407T>G
|
p.Cys91fs*5/p.Tyr469*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
|
N. European
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-1
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
F
|
20-39
|
25
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
XSEE
|
BBS008
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Janssen et al. 2011
|
ZIWZ
|
AR880 (A2881) -4
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
N. European
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-2
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
F
|
20-39
|
30
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
N5JK
|
BBS009
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
30-39
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
White European
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-3
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
F
|
20-39
|
27
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
YJGI
|
BBS010
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
M
|
40+
|
50-59
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-4
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
M
|
20-39
|
22
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
YP1P
|
BBS011
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
M
|
40+
|
50-59
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
0EMR
|
BBS012
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
F
|
40+
|
50-59
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Janssen et al. 2011
|
DRZF
|
A1155 0
|
BBS2
|
c.947G>A/c.947G>A
|
p.Gly316Asp/p.Gly316Asp
|
MS/MS
|
|
|
|
|
0
|
|
1
|
|
0
|
1
|
1
|
|
|
N. European
|
|
Janssen et al. 2011
|
F9UG
|
AR124 (A2832) -3
|
BBS2
|
c.IVS3-1delG/c.1371delG
|
p.Val158fs*43/p.Leu457fs*30
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
1
|
N. European
|
[]
|
Deveault et al. 2011
|
NAUR
|
32
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
MS/MS
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
0
|
0
|
|
1
|
1
|
Croatian
|
|
Janssen et al. 2011
|
F9UG
|
AR124 (A2832)-4
|
BBS2
|
c.IVS3-1delG/c.1371delG
|
p.Val158fs*43/p.Leu457fs*30
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
1
|
N. European
|
[]
|
Janssen et al. 2011
|
CAEM
|
AR839 (A2874) -4
|
BBS2
|
c.1438C>T/c.1237C>T
|
p.Arg480*/p.Arg413*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
1
|
|
1
|
N. European
|
|
Deveault et al. 2011
|
1R6I
|
39
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
25
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
1
|
English/Irish
|
|
Deveault et al. 2011
|
0QQE
|
21
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
29
|
1
|
1
|
1
|
1
|
0
|
0
|
|
1
|
1
|
English/German/Canadian
|
|