Abu-Safieh et al. 2012
|
A60R
|
BBS-F031-A
|
BBS4
|
c.1180C>T/c.1180C>T
|
p.Gln394*/p.Gln394*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
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
|
[]
|
Abu-Safieh et al. 2012
|
JMQS
|
BBS-F030-A
|
BBS5
|
c.158C>T/c.158C>T
|
p.Thr53Ile/p.Thr53Ile
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
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
|
[]
|
Abu-Safieh et al. 2012
|
ZLPD
|
BBS-F019-A
|
BBS6
|
c.871G>T/c.871G>T
|
p.Val291Phe/p.Val291Phe
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
1
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
75UO
|
82
|
BBS2
|
|
p.Leu125Arg/p.Leu125Arg
|
MS/MS
|
[]
|
M
|
20-39
|
22
|
1
|
1
|
1
|
|
|
1
|
1
|
|
1
|
Denea
|
|
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
|
[]
|
Abu-Safieh et al. 2012
|
ZLPD
|
BBS-F019-B
|
BBS6
|
c.871G>T/c.871G>T
|
p.Val291Phe/p.Val291Phe
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
1
|
0
|
|
Saudi Arabian
|
|
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
|
[]
|
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
|
[]
|
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
|
[]
|
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
|
|
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
|
|
Abu-Safieh et al. 2012
|
INBL
|
BBS-F012-C
|
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
|
|
Deveault et al. 2011
|
1RCS
|
62
|
BBS2
|
|
p.Tyr317Cys/p.Tyr317Cys
|
MS/MS
|
|
M
|
20-39
|
20
|
1
|
1
|
1
|
0
|
|
0
|
|
1
|
1
|
Somalian
|
|
Kerr et al. 2015
|
ZRXG
|
13
|
BBS2
|
|
p.Tyr24*/p.Arg703*
|
cLOF/cLOF
|
|
F
|
20-39
|
28
|
1
|
1
|
1
|
1!
|
|
0
|
|
|
1
|
Polish
|
[]
|
Deveault et al. 2011
|
J5Z0
|
53
|
BBS5
|
c.387-618del232/c.387-618del232
|
p.?/p.?
|
|
|
F
|
20-39
|
28
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Jordanian
|
|
Abu-Safieh et al. 2012
|
Z3OQ
|
BBS-F015-B
|
BBS9
|
c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del
|
p.Gly148_Val234del/p.Gly148_Val234del
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
0
|
0
|
|
Saudi Arabian
|
|