Gerth et al. 2008
|
O76S
|
2512
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
0
|
0
|
|
0
|
|
0
|
|
Canada
|
|
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
|
|
Gerth et al. 2008
|
OZTA
|
2621
|
BBS10
|
|
p.Cys91Trp/p.Ala474fs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
1
|
0
|
|
|
1
|
|
0
|
|
Canada
|
|
Ghadami et al. 2000
|
YCV0
|
III-10
|
BBS3
|
|
|
|
|
F
|
40+
|
62
|
1
|
1
|
0
|
|
0
|
0
|
|
|
|
Iranian
|
|
Ghadami et al. 2000
|
YCV0
|
III-9
|
BBS3
|
|
|
|
|
M
|
|
|
1
|
1
|
0
|
|
|
|
|
|
|
Iranian
|
|
Billingsley et al. 2012
|
MESS
|
40
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
[]
|
|
10-19
|
16
|
1
|
1
|
0
|
1
|
0
|
1
|
0
|
0
|
1
|
East Indian
|
|
Billingsley et al. 2012
|
MESS
|
59
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
|
|
10-19
|
13
|
1
|
1
|
0
|
1!
|
0
|
1
|
1
|
1
|
1
|
East Indian
|
|
Harville et al. 2010
|
CCK1
|
A2876-II1(AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
0
|
0
|
0
|
1
|
0
|
|
|
1
|
Europe
|
|
Pereiro et al. 2010
|
0KMP
|
M446 II.1
|
BBS3
|
|
p.Gly2*/p.Gly2*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Caucasian
|
|
Phelps et al. 2017
|
MDPS
|
UW013-3
|
BBS14
|
|
|
|
[]
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
MDPS
|
UW013-4
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
6S11
|
UW045-3
|
BBS14
|
|
|
|
|
|
|
|
0
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
6S11
|
UW045-4
|
BBS14
|
|
|
|
|
|
|
|
0
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
HKJC
|
UW220-3
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
80NL
|
UW244-3
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
80NL
|
UW244-4
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
1
|
|
1
|
|
European
|
|
Phelps et al. 2017
|
7J4Q
|
UW259-3
|
BBS14
|
|
|
|
[]
|
|
|
|
0
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
SWCP
|
UW263-3
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
MI6E
|
UW282-3
|
BBS14
|
|
|
|
[]
|
|
|
|
1
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
MI6E
|
UW282-4
|
BBS14
|
|
|
|
[]
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
5LKL
|
UW112-3
|
BBS20
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
1
|
|
1
|
|
European
|
|
Phelps et al. 2017
|
5LKL
|
UW112-4
|
BBS20
|
|
|
|
[]
|
|
|
|
0
|
|
0
|
|
|
1
|
|
1
|
|
European
|
|
Hjortshoj et al. 2009
|
Q90P
|
FO-01
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
23
|
1
|
1
|
0
|
|
|
|
|
|
|
Faroe Islands
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:1
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
29
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:10
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|