Pawlik et al. 2010
|
RNS3
|
IV-3
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
20-39
|
27
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
Pawlik et al. 2010
|
RNS3
|
IV-9
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
10-19
|
19
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
Pereiro et al. 2010
|
0KMP
|
M446 II.1
|
BBS3
|
|
p.Gly2*/p.Gly2*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Caucasian
|
|
Pereiro et al. 2010
|
0KMP
|
M446 II.2
|
BBS3
|
|
p.Gly2*/p.Gly2*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Caucasian
|
|
Braun et al. 2014
|
NA
|
7
|
BBS1
|
|
|
|
|
F
|
20-39
|
27
|
0
|
|
|
0
|
|
|
|
|
|
French
|
|
Braun et al. 2014
|
NA
|
13
|
BBS1
|
|
|
|
|
M
|
20-39
|
22
|
0
|
|
|
0
|
|
|
|
|
|
French
|
|
Braun et al. 2014
|
NA
|
11
|
BBS10
|
|
|
|
|
M
|
20-39
|
37
|
1
|
|
|
0
|
|
|
|
|
|
French
|
|
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
|
|
Braun et al. 2014
|
NA
|
17
|
BBS10
|
|
|
|
|
M
|
20-39
|
25
|
1
|
|
|
0
|
|
|
|
|
|
French
|
|
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
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:5
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:7
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
21
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
Riise et al. 2002
|
7ZYG
|
IV-1
|
BBS4
|
2bp insertion in exon 8/2bp insertion in exon 8
|
fs/fs
|
cLOF/cLOF
|
|
F
|
10-19
|
13
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Scandinavian
|
[]
|
Braun et al. 2014
|
NA
|
16
|
BBS3
|
|
|
|
|
M
|
10-19
|
18
|
1
|
|
|
0
|
|
|
|
|
|
French
|
|
Riise et al. 2002
|
7ZYG
|
IV-2
|
BBS4
|
2bp insertion in exon 8/2bp insertion in exon 8
|
fs/fs
|
cLOF/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
0
|
1
|
|
|
|
|
Scandinavian
|
[]
|
Riise et al. 2002
|
DLS1
|
IX-1
|
BBS4
|
G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
30
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Scandinavian
|
[]
|
Braun et al. 2014
|
NA
|
9
|
BBS5
|
|
|
|
|
M
|
20-39
|
24
|
1
|
|
|
0
|
|
|
|
|
|
French
|
|
Riise et al. 2002
|
DLS1
|
IX-2
|
BBS4
|
G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
32
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Scandinavian
|
[]
|
Braun et al. 2014
|
NA
|
10
|
BBS5
|
|
|
|
|
M
|
20-39
|
39
|
1
|
|
|
0
|
|
|
|
|
|
French
|
|
Braun et al. 2014
|
NA
|
14
|
BBS9
|
|
|
|
|
M
|
20-39
|
27
|
1
|
|
|
0
|
|
|
|
|
|
French
|
|
Hjortshoj et al. 2009
|
H5EH
|
FO-10
|
BBS1
|
c.1091+3G>C/
|
splice/p.Met390Arg
|
cLOF/MS
|
|
M
|
20-39
|
31
|
1
|
0
|
1
|
0
|
|
|
|
|
|
Faroe Islands
|
|
Sathya Priya et al. 2015
|
ZPP2
|
BBS-G
|
BBS1
|
c.1340-2A>G/c.1340-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Indian
|
|
Sathya Priya et al. 2015
|
HA2V
|
BBS-M
|
BBS1
|
c.1695G>A/c.1695G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Indian
|
|
Hjortshoj et al. 2010
|
58IU
|
P47
|
BBS10
|
|
p.Cys91Trpfs*5/p.Gln623*
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
9
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Scandinavian
|
|
Hjortshoj et al. 2010
|
W986
|
P1
|
BBS2
|
|
p.Phe221fs*25/p.Phe221fs*25
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
6
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Scandinavian
|
|