Branfield Day et al. 2015
|
NA
|
3
|
BBS16
|
|
|
|
|
F
|
10-19
|
17,9
|
|
1
|
|
|
|
1
|
|
0
|
|
Indian
|
|
Branfield Day et al. 2015
|
NA
|
4
|
BBS16
|
|
|
|
|
F
|
10-19
|
14,6
|
|
1
|
|
|
|
1
|
|
1
|
|
Indian
|
|
Branfield Day et al. 2015
|
NA
|
9
|
BBS2
|
|
|
|
|
F
|
10-19
|
14,3
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Branfield Day et al. 2015
|
NA
|
8
|
BBS4
|
|
|
|
|
F
|
10-19
|
15,1
|
|
1
|
|
|
|
1
|
|
0
|
|
French
|
|
Branfield Day et al. 2015
|
NA
|
10
|
BBS4
|
|
|
|
|
M
|
10-19
|
15,6
|
|
1
|
|
|
|
0
|
|
0
|
|
Iraqi
|
|
Branfield Day et al. 2015
|
NA
|
11
|
BBS4
|
|
|
|
|
F
|
10-19
|
18
|
|
1
|
|
|
|
0
|
|
0
|
|
Iraqi
|
|
Branfield Day et al. 2015
|
NA
|
14
|
BBS7
|
|
|
|
|
F
|
10-19
|
18,1
|
|
1
|
|
|
|
1
|
|
0
|
|
Peruvian
|
|
Branfield Day et al. 2015
|
NA
|
5
|
BBS8
|
|
|
|
|
F
|
10-19
|
14,6
|
|
1
|
|
|
|
0
|
|
0
|
|
Pakistani
|
|
Branfield Day et al. 2015
|
NA
|
6
|
BBS8
|
|
|
|
|
F
|
10-19
|
15,4
|
|
1
|
|
|
|
0
|
|
1
|
|
NA
|
|
Braun et al. 2014
|
NA
|
2
|
BBS1
|
|
|
|
|
M
|
10-19
|
17
|
1
|
|
|
1
|
|
|
|
|
|
French
|
|
Qi et al. 2017
|
TTDR
|
|
BBS6
|
c.1175C>T/c.1192C>T
|
p.Thr392Met/p.Gln398*
|
MS/cLOF
|
[]
|
F
|
10-19
|
10
|
1
|
0
|
1
|
1
|
|
1
|
|
|
|
Chinese
|
|
Rahner et al. 2016
|
TUBA
|
II.3
|
BBS21
|
c.155+2T>C/c.155+2T>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
|
|
0
|
0
|
|
|
Moroccan
|
|
Heon et al. 2016
|
XN45
|
|
BBS21
|
c.304A>T/c.304A>T
|
p.Lys102*/p.Lys102*
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
12
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
|
Caucasian
|
|
Hjortshoj et al. 2009
|
PT3J
|
FO-02
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
10-19
|
17
|
1
|
1
|
1
|
1
|
0
|
|
|
|
|
Faroe Islands
|
|
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
|
|
Hjortshoj et al. 2009
|
GHP7
|
FO-05
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
Faroe Islands
|
|
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
|
[]
|
Bujakowska et al. 2015
|
ARFT
|
Family 1, II.1
|
BBS20
|
c.1525-1G>A/c.4701C>A
|
splice/p.His1567Gln
|
cLOF/MS
|
|
|
10-19
|
15
|
1
|
1
|
1
|
|
|
0
|
|
1
|
|
White European
|
|
Hjortshoj et al. 2010
|
QC14
|
P42
|
BBS2
|
|
p.Arg216*/p.Tyr24*
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Scandinavian
|
|
Hjortshoj et al. 2010
|
DFPM
|
P55
|
BBS2
|
|
p.Phe221fs*25/p.Gln569*
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
19
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Scandinavian
|
|
Castro-Sanchez et al. 2015
|
M6S4
|
GBB27 (I)‡
|
BBS1
|
|
p.Met390Arg/p.His504fs*48
|
MS/cLOF
|
|
M
|
10-19
|
17
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
Spanish
|
|
Hulleman et al. 2016
|
E4HN
|
ID SIO101
|
BBS6
|
c.1184A>G/c.1184A>G
|
p.His395Arg/p.His395Arg
|
MS/MS
|
|
M
|
10-19
|
18
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
|
0
|
India
|
|
Hulleman et al. 2016
|
E4HN
|
ID SIO102
|
BBS6
|
c.1184A>G/c.1184A>G
|
p.His395Arg/p.His395Arg
|
MS/MS
|
|
F
|
10-19
|
13
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
|
0
|
India
|
|