Branfield Day et al. 2015
|
NA
|
20
|
BBS6
|
|
|
|
|
M
|
20-39
|
22,4
|
|
1
|
|
|
|
0
|
|
0
|
|
Portugese
|
|
Harville et al. 2010
|
JVOM
|
A2008-II1
|
BBS4
|
c.IVS3-2A>G/c.IVS3-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
USA
|
|
Phelps et al. 2017
|
6S11
|
UW045-4
|
BBS14
|
|
|
|
|
|
|
|
0
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
Branfield Day et al. 2015
|
NA
|
14
|
BBS7
|
|
|
|
|
F
|
10-19
|
18,1
|
|
1
|
|
|
|
1
|
|
0
|
|
Peruvian
|
|
Harville et al. 2010
|
ENNE
|
A2023-II1
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Turkish
|
|
Phelps et al. 2017
|
HKJC
|
UW220-3
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Branfield Day et al. 2015
|
NA
|
5
|
BBS8
|
|
|
|
|
F
|
10-19
|
14,6
|
|
1
|
|
|
|
0
|
|
0
|
|
Pakistani
|
|
Harville et al. 2010
|
H5B5
|
A2002-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
Pakistani
|
|
Phelps et al. 2017
|
80NL
|
UW244-3
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
Branfield Day et al. 2015
|
NA
|
6
|
BBS8
|
|
|
|
|
F
|
10-19
|
15,4
|
|
1
|
|
|
|
0
|
|
1
|
|
NA
|
|
Harville et al. 2010
|
E9UF
|
A2027-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
1
|
|
1
|
0
|
|
|
|
Pakistani
|
|
Phelps et al. 2017
|
80NL
|
UW244-4
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
1
|
|
1
|
|
European
|
|
Branfield Day et al. 2015
|
NA
|
12
|
BBS9
|
|
|
|
|
F
|
20-39
|
23,8
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Harville et al. 2010
|
S37F
|
A2004-II2
|
BBS7
|
c.711_714delGAGA/c.711_714delGAGA
|
p.Arg238fs*59/p.Arg238fs*59
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|
Branfield Day et al. 2015
|
NA
|
13
|
BBS9
|
|
|
|
|
F
|
20-39
|
20,9
|
|
1
|
|
|
|
1
|
|
0
|
|
NA
|
|
Harville et al. 2010
|
SRNJ
|
A2005-II1
|
BBS7
|
c.688T>C/c.688T>C
|
p.Trp320Arg/p.Trp320Arg
|
MS/MS
|
|
|
|
|
0
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Turkish
|
|
Phelps et al. 2017
|
SWCP
|
UW263-3
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
Braun et al. 2014
|
NA
|
2
|
BBS1
|
|
|
|
|
M
|
10-19
|
17
|
1
|
|
|
1
|
|
|
|
|
|
French
|
|
Harville et al. 2010
|
WDU9
|
A2875-II1
|
BBS7
|
c.188T>G/c.188T>G
|
p.Ile66Met/p.Ile66Met
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Europe
|
|
Braun et al. 2014
|
NA
|
3
|
BBS1
|
|
|
|
|
M
|
20-39
|
24
|
1
|
|
|
1
|
|
|
|
|
|
French
|
|
Harville et al. 2010
|
WDU9
|
A2875-II2
|
BBS7
|
c.188T>G/c.188T>G
|
p.Ile66Met/p.Ile66Met
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Europe
|
|
Braun et al. 2014
|
NA
|
4
|
BBS1
|
|
|
|
|
F
|
40+
|
44
|
1
|
|
|
1
|
|
|
|
|
|
French
|
|
Harville et al. 2010
|
6FMK
|
A2889-II1 (A80533/4)
|
BBS7
|
c.1786G>A/c.1786G>A
|
p.Glu596Lys/p.Glu596Lys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
0
|
|
|
|
Israel Arab
|
|
Phelps et al. 2017
|
5LKL
|
UW112-3
|
BBS20
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
1
|
|
1
|
|
European
|
|
Braun et al. 2014
|
NA
|
5
|
BBS1
|
|
|
|
|
M
|
20-39
|
23
|
0
|
|
|
1
|
|
|
|
|
|
French
|
|