Gerth et al. 2008
|
QWKB
|
2293
|
BBS1
|
|
p.Met390Arg/p.Asn524del
|
MS/MS
|
|
M
|
20-39
|
21
|
1
|
1
|
|
|
|
0
|
|
0
|
1
|
Canada
|
|
Billingsley et al. 2010
|
CE16
|
22*
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
0
|
1
|
1
|
0
|
1
|
|
0
|
1
|
German/Italian
|
|
Gerth et al. 2008
|
BBNF
|
2301
|
BBS1
|
|
p.Asp8Asp (splice)/p.Arg483*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
1
|
1
|
Canada
|
|
Billingsley et al. 2010
|
CE16
|
55*
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
0
|
0
|
1
|
|
0
|
1
|
German/Italian
|
|
Gerth et al. 2008
|
O76S
|
2512
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
0
|
0
|
|
0
|
|
0
|
|
Canada
|
|
Gerth et al. 2008
|
NSTJ
|
2597
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
21
|
1
|
1
|
1
|
1
|
|
0
|
|
0
|
|
Canada
|
|
Gerth et al. 2008
|
TM2Q
|
2213
|
BBS10
|
|
p.Cys91Trp/p.Val707*fs*1
|
MS/cLOF
|
|
F
|
10-19
|
14
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
M'hamdi et al. 2013
|
FHWS
|
BBS-F07-A
|
BBS2
|
c.565C>T/c.565C>T
|
p.Arg189*/p.Arg189*
|
cLOF/cLOF
|
|
F
|
0-9
|
8
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
Gerth et al. 2008
|
IT83
|
2294
|
BBS10
|
|
p.Cys91fs*5/p.Arg103fs*8
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
Billingsley et al. 2010
|
6XEU
|
79z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
|
F
|
10-19
|
18
|
1
|
|
1
|
0
|
0
|
0
|
|
|
|
British
|
|
Gerth et al. 2008
|
OZTA
|
2296
|
BBS10
|
|
p.Cys91Trp/p.Ala474fs*10
|
MS/cLOF
|
|
M
|
10-19
|
12
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
Gerth et al. 2008
|
OZTA
|
2621
|
BBS10
|
|
p.Cys91Trp/p.Ala474fs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
1
|
0
|
|
|
1
|
|
0
|
|
Canada
|
|
Ghadami et al. 2000
|
YCV0
|
III-10
|
BBS3
|
|
|
|
|
F
|
40+
|
62
|
1
|
1
|
0
|
|
0
|
0
|
|
|
|
Iranian
|
|
M'hamdi et al. 2013
|
UH14
|
BBS-F14-A
|
BBS8
|
c.459+1G>A/c.459+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
M
|
0-9
|
4
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
|
Tunisian
|
|
Billingsley et al. 2010
|
YAGJ
|
128**
|
BBS12
|
|
p.Arg355Gln/p.Arg355Gln
|
MS/MS
|
|
M
|
10-19
|
16
|
|
|
|
1
|
1
|
|
|
0
|
1
|
Canadian Native Indian
|
|
Ghadami et al. 2000
|
YCV0
|
III-5
|
BBS3
|
|
|
|
|
M
|
|
|
1
|
0
|
1
|
|
0
|
|
|
|
|
Iranian
|
|
Otto et al. 2010
|
L0I5
|
FI.2_21
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
Ghadami et al. 2000
|
YCV0
|
III-9
|
BBS3
|
|
|
|
|
M
|
|
|
1
|
1
|
0
|
|
|
|
|
|
|
Iranian
|
|
Otto et al. 2010
|
L0I5
|
FI.2_22
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
Billingsley et al. 2010
|
F7X3
|
2x
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
|
M
|
20-39
|
24
|
1
|
0
|
1
|
0
|
0
|
0
|
|
1
|
1
|
Egyptian
|
|
Ghadami et al. 2000
|
YCV0
|
IV-10
|
BBS3
|
|
|
|
|
F
|
20-39
|
32
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
Otto et al. 2010
|
L0I5
|
FI.2_23
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
Billingsley et al. 2010
|
F7X3
|
3x
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
|
M
|
20-39
|
22
|
1
|
1
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Egyptian
|
|
Ghadami et al. 2000
|
YCV0
|
IV-11
|
BBS3
|
|
|
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
Otto et al. 2010
|
L0I5
|
FI.2_24
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|