Branfield Day et al. 2015
|
NA
|
4
|
BBS16
|
|
|
|
|
F
|
10-19
|
14,6
|
|
1
|
|
|
|
1
|
|
1
|
|
Indian
|
|
Chaki et al. 2011
|
WB7H
|
A1365-21
|
BBS16
|
c.1420del1/c.1420del1
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
WB7H
|
A1365-22
|
BBS16
|
c.1420del2/c.1420del2
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
ITBC
|
A2290-21
|
BBS16
|
c.1068+1G>A/c.1068+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1!
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
E02N
|
AR37-25
|
BBS16
|
c.696T>G/c.740+1del1
|
p.Tyr232* /splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
0
|
1
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
E02N
|
AR37-27
|
BBS16
|
c.696T>G/c.740+1del2
|
p.Tyr232* /splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
H8CI
|
F1054-21
|
BBS16
|
c.1796T>G/c.1796T>G
|
p.Leu599* /p.Leu599*
|
cLOF/cLOF
|
|
F
|
|
|
0
|
|
|
0
|
1
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
H8CI
|
F1054-22
|
BBS16
|
c.1796T>G/c.1796T>G
|
p.Leu599* /p.Leu599*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
BHW5
|
F159-21
|
BBS16
|
c.421-?_740+?del/c.421-?_740+?del
|
p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
BHW5
|
F159-22
|
BBS16
|
c.421-?_740+?del/c.421-?_740+?del
|
p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
5NJD
|
F195-21
|
BBS16
|
c.1946_1949del4/c.1946_1949del4
|
p.Cys649fs*10/p.Cys649fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
X52J
|
F336-21
|
BBS16
|
c.1339_340insG/c.1339_340insG
|
p.Glu447fs*17/p.Glu447fs*17
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
X52J
|
F336-22
|
BBS16
|
c.1339_340insG/c.1339_340insG
|
p.Glu447fs*17/p.Glu447fs*17
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Schaefer et al. 2013
|
9V5G
|
II:2
|
BBS17
|
c.260T>C/c.778G>T
|
p.Leu87Pro/p.Glu260*
|
MS/cLOF
|
|
F
|
20-39
|
36
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
French
|
|
Schaefer et al. 2013
|
9V5G
|
II:3
|
BBS17
|
c.260T>C/c.778G>T
|
p.Leu87Pro/p.Glu260*
|
MS/cLOF
|
|
F
|
20-39
|
36
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
French
|
|
Marion et al. 2012
|
CPKG
|
BBE93
|
BBS17
|
c.402-406d/c.402-406d
|
p.Pro136Thrfs*/p.Pro136Thrfs*
|
cLOF/cLOF
|
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
Algerian
|
|
Scheidecker et al. 2013
|
SQF2
|
|
BBS18
|
c.173T>G/c.173T>G
|
p.Leu58*/p.Leu58*
|
cLOF/cLOF
|
|
M
|
40+
|
49
|
1
|
1
|
0
|
1
|
0
|
1
|
|
|
0
|
Italian
|
|
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
|
7GBT
|
F-15-22
|
BBS2
|
c.1015C>T/c.1015C>T
|
p.Arg339*/p.Arg339*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
QHSP
|
F-16-23
|
BBS2
|
c.806T>G/c.806T>G
|
p.Val269Gly/p.Val269Gly
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
1
|
|
1
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
NLII
|
F-18-25
|
BBS2
|
c.805_1910del/c.805_1910del
|
p.Val269Glufs*12/p.Val269Glufs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
NLII
|
F-18-26
|
BBS2
|
c.805_1910del/c.805_1910del
|
p.Val269Glufs*12/p.Val269Glufs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
K8I8
|
F-38-62
|
BBS2
|
c.508G>A/c.508G>A
|
p.Asp170Asn/p.Asp170Asn
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
FMMH
|
F-78-140
|
BBS2
|
c.943C>T/c.943C>T
|
p.Arg315Trp/p.Arg315Trp
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|