Shin et al. 2015
|
50Z6
|
II:1
|
BBS7
|
c.103-1G>A/c.728G>A
|
splice/p.Cys243Tyr
|
cLOF/MS
|
|
M
|
20-39
|
28
|
1
|
1
|
0
|
1
|
0
|
1
|
1
|
0
|
1
|
Korean
|
|
Kerr et al. 2015
|
IULP
|
5
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
13
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Canadian
|
|
Shin et al. 2015
|
50Z6
|
II:2
|
BBS7
|
c.103-1G>A/c.728G>A
|
splice/p.Cys243Tyr
|
cLOF/MS
|
|
M
|
20-39
|
26
|
1
|
1
|
0
|
1
|
0
|
1
|
1
|
0
|
1
|
Korean
|
|
Kerr et al. 2015
|
XOZA
|
12
|
BBS10
|
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
|
F
|
10-19
|
10
|
1
|
1
|
1
|
0
|
|
0
|
|
0
|
|
Canadian
|
|
Schaefer et al. 2011(a)
|
ILWY
|
1063
|
BBS16
|
c.1444delA/c.1627_1630delGATA
|
p.Thr482Serfs*11/p.Asp543Alafs*23
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
|
|
|
|
|
1
|
USA
|
|
Deveault et al. 2011
|
75UO
|
16
|
BBS2
|
|
p.Leu125Arg/p.Leu125Arg
|
MS/MS
|
|
M
|
20-39
|
30
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Denea
|
|
Kerr et al. 2015
|
IC89
|
6
|
BBS10
|
|
p.Cys91Leufs*5/p.Glu104Lysfs*7
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1!
|
0
|
1
|
|
1!
|
1
|
English/Irish/Scottish
|
[]
|
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
|
[]
|
Deveault et al. 2011
|
75UO
|
18
|
BBS2
|
|
p.Leu125Arg/p.Leu125Arg
|
MS/MS
|
|
M
|
40+
|
43
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Denea
|
|
Kerr et al. 2015
|
G3C7
|
7b
|
BBS10
|
|
p.Cys91Leufs*5/p.Tyr469*
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
|
|
|
1
|
French/Canadian
|
[]
|
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
|
[]
|
Kerr et al. 2015
|
G3C7
|
8b
|
BBS10
|
|
p.Cys91Leufs*5/p.Tyr469*
|
cLOF/cLOF
|
|
F
|
10-19
|
13
|
1
|
1
|
1
|
1
|
1
|
1!
|
|
0
|
1
|
French/Canadian
|
[]
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-07
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
11
|
1
|
1
|
0
|
1
|
|
1
|
|
|
1
|
USA
|
[]
|
Deveault et al. 2011
|
UHVP
|
123
|
BBS2
|
|
p.Lys39Lys (splice)/p.Arg324*
|
cLOF/cLOF
|
|
M
|
20-39
|
23
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
1
|
Caucasian
|
|
Kerr et al. 2015
|
G3C7
|
9b
|
BBS10
|
|
p.Cys91Leufs*5/p.Tyr469*
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
0
|
1
|
French/Canadian
|
[]
|
Schaefer et al. 2011(a)
|
DRXS
|
I.2.21
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
37
|
1
|
0
|
0
|
|
|
1
|
|
|
|
French
|
|
Abu-Safieh et al. 2012
|
HF1E
|
BBS-F022-A
|
BBS6
|
c.116C>T/c.116C>T
|
p.Pro39Leu/p.Pro39Leu
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
NZLP
|
130
|
BBS2
|
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
F
|
0-9
|
0
|
|
|
1
|
1
|
|
1
|
|
|
|
Lebanese
|
|
Kerr et al. 2015
|
OVPA
|
10c
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
1
|
German/Italian
|
[]
|
Schaefer et al. 2011(a)
|
DRXS
|
I.2.22
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
0
|
|
|
1
|
|
|
1
|
French
|
|
Abu-Safieh et al. 2012
|
INBL
|
BBS-F012-A
|
BBS7
|
c.602-2A>T/c.602-2A>T
|
no RNA available/no RNA available
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
NZLP
|
142
|
BBS2
|
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Lebanese
|
|
Kerr et al. 2015
|
OVPA
|
11c
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
20-39
|
20
|
1
|
1!
|
1
|
1!
|
0
|
1
|
|
|
1
|
German/Italian
|
[]
|
Schaefer et al. 2011(a)
|
DRXS
|
I.2.23
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
14
|
1
|
1
|
0
|
|
|
1
|
|
|
1
|
French
|
|
Abu-Safieh et al. 2012
|
INBL
|
BBS-F012-B
|
BBS7
|
c.602-2A>T/c.602-2A>T
|
no RNA available/no RNA available
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
0
|
0
|
|
Saudi Arabian
|
|