|
Janssen et al. 2011
|
WUGA
|
A1885 0
|
BBS2
|
c.823C>T/c.1895G>C
|
p.Arg275*/p.Arg632Pro
|
cLOF/MS
|
|
|
|
|
1
|
|
0
|
0
|
|
1
|
|
|
0
|
USA
|
|
|
Deveault et al. 2011
|
2YSJ
|
1
|
BBS1
|
|
p.Arg160Gln/p.Arg160Gln
|
MS/MS
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
Swiss
|
|
|
Katsanis et al. 2001
|
4RJW
|
AR171²
|
BBS2
|
|
p.Asp104Ala/p.Arg634Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
0
|
|
|
0
|
European/American
|
|
|
Katsanis et al. 2001
|
ZH2A
|
AR241\
|
BBS2
|
|
p.Arg315Gln/p.Arg315Gln
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
0
|
European/American
|
|
|
Katsanis et al. 2001
|
VLFH
|
AR259§\
|
BBS2
|
|
p.Tyr24*/p.Gln59*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
0
|
European/American
|
|
|
Deveault et al. 2011
|
XBKC
|
124
|
BBS12
|
|
p.Gln293Glu/p.Phe372*fs*1
|
MS/cLOF
|
|
F
|
40+
|
64
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
0
|
Caucasian
|
|
|
Kerr et al. 2015
|
1GW6
|
4a
|
BBS1
|
|
p.Met390Arg/p.Leu505Profs*52
|
MS/cLOF
|
[]
|
M
|
20-39
|
30
|
1
|
1
|
1
|
0
|
|
0
|
|
1!
|
0
|
English/Irish/Scotish
|
[]
|
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-02
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
0
|
|
|
1
|
|
|
0
|
USA
|
[]
|
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-05
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
22
|
1
|
1
|
0
|
|
1
|
1
|
|
|
0
|
USA
|
[]
|
|
Deveault et al. 2011
|
O815
|
81
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
|
F
|
10-19
|
17
|
1
|
1
|
1
|
0
|
0
|
1
|
1
|
|
0
|
NA
|
|
|
Kerr et al. 2015
|
D9ZV
|
16
|
BBS6
|
|
p.Cys99Arg/p.Cys99Arg
|
MS/MS
|
|
M
|
20-39
|
24
|
1
|
1
|
1
|
0
|
1
|
1
|
|
1
|
0
|
Portugese
|
[]
|
|
Ajmal et al. 2013
|
V4HF
|
Family B IV:5
|
BBS1
|
c.442G>A/c.442G>A
|
p.Asp148Asn/p.Asp148Asn
|
MS/MS
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
0
|
Pakistani
|
|
|
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
|
|
|
Khan et al. 2016 (a)
|
4A6K
|
|
BBS21
|
c.529C>T/c.529C>T
|
p.Arg177Trp/p.Arg177Trp
|
MS/MS
|
|
M
|
0-9
|
6
|
1
|
1
|
1
|
|
|
0
|
0
|
|
0
|
Saudi Arabian
|
|
|
Ece Solmaz et al. 2015
|
COR8
|
13
|
BBS9
|
c.102_112+2delAAATGGACAAGGT/c.102_112+2delAAATGGACAAGGT
|
p.Asn35*/p.Asn35*
|
cLOF/cLOF
|
|
|
0-9
|
0,6
|
0
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Turkish
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
EOHE
|
1/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
|
0
|
Netherland
|
|
|
Leitch et al. 2008
|
RXWS
|
PB215-04
|
BBS13
|
|
p.Cys492Trp/p.Phe371del
|
MS/MS
|
|
M
|
0-9
|
2
|
0
|
1
|
1
|
|
|
0
|
|
0
|
0
|
Turkish
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
53FP
|
10/Fc
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
|
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
0
|
French
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
ONMF
|
11/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
1
|
0
|
|
0
|
Italian
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
9FZ4
|
12/F
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
|
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
0
|
French
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
HQVO
|
13/F
|
BBS1
|
|
p.Met390Arg/p.Arg268Pro
|
MS/MS
|
|
F
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
0
|
Netherland
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
5JXT
|
14/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
1
|
0
|
1
|
0
|
0
|
1
|
|
0
|
German
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
Q71J
|
2/M
|
BBS1
|
|
p.Met390Arg/p.Leu388Pro
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
|
0
|
French
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
3VCU
|
3/Fa
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
|
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
|
0
|
Italian
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
XZ97
|
4/M
|
BBS1
|
|
p.Met390Arg/p.Cys377Trpfs*36
|
MS/cLOF
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
1
|
0
|
|
0
|
Netherland
|
|