Khan et al. 2013
|
38GY
|
A IV-6
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
M
|
20-39
|
32
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Pakistani
|
|
Scheidecker et al. 2015
|
NG8A
|
Case5
|
BBS10
|
|
p.Arg49Trp/p.Gln139Pro
|
MS/MS
|
|
M
|
40+
|
54
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
French
|
|
Aldahmesh et al. 2014
|
TUBP
|
BBS_DG5a
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
1
|
|
Saudi Arabian
|
|
Khan et al. 2013
|
38GY
|
A IV-7
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
M
|
20-39
|
26
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Pakistani
|
|
Scheidecker et al. 2015
|
NG8A
|
Case6
|
BBS10
|
|
p.Arg49Trp/p.Gln139Pro
|
MS/MS
|
|
M
|
20-39
|
36
|
1
|
1
|
1
|
0
|
1
|
|
|
|
|
French
|
|
Aldahmesh et al. 2014
|
TUBP
|
BBS_DG5b
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs∗57/p.Ala323Cysfs∗57
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
Saudi Arabian
|
|
Khan et al. 2013
|
38GY
|
A V-2
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
M
|
10-19
|
19
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Pakistani
|
|
Scheidecker et al. 2015
|
0AUW
|
Case2
|
BBS12
|
|
p.Pro159Leu/p.Ile346Thr
|
MS/MS
|
|
M
|
40+
|
45
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
|
French
|
|
Aldahmesh et al. 2014
|
TUBP
|
BBS_DG5c
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs∗57/p.Ala323Cysfs∗57
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
1
|
|
Saudi Arabian
|
|
Khan et al. 2013
|
38GY
|
A V-3
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
0
|
0
|
|
0
|
|
|
Pakistani
|
|
Scheidecker et al. 2015
|
LOF5
|
Case1
|
BBS5
|
|
p.Met1Leu/p.Met1Leu
|
MS/MS
|
|
M
|
20-39
|
37
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
French
|
|
Aldahmesh et al. 2014
|
TUBP
|
BBS_DG5d
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs∗57/p.Ala323Cysfs∗57
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
0
|
1
|
0
|
1
|
0
|
1
|
|
Saudi Arabian
|
|
Khan et al. 2013
|
38GY
|
A V-4
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
M
|
10-19
|
12
|
1
|
0
|
1
|
0
|
0
|
|
0
|
|
|
Pakistani
|
|
Scheidecker et al. 2015
|
8ODK
|
Case7
|
BBS6
|
|
p.Met1Ile/p.Tyr37Cys
|
MS/MS
|
|
M
|
20-39
|
36
|
1
|
1
|
1
|
0
|
0
|
1
|
|
|
|
French
|
|
Aldahmesh et al. 2014
|
3LKE
|
BBS_DG9a
|
BBS6
|
c.116C>T/c.116C>T
|
p.Pro39Leu/p.Pro39Leu
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Suspitsin et al.2015
|
8ANZ
|
II.4
|
BBS7
|
c.1967_1968delTAinsC/c.1967_1968delTAinsC
|
p.Leu656fs*18/p.Leu656fs*18
|
cLOF/cLOF
|
|
M
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Russian
|
|
Aldahmesh et al. 2014
|
3LKE
|
BBS_DG9b
|
BBS6
|
c.116C>T/c.116C>T
|
p.Pro39Leu/p.Pro39Leu
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Suspitsin et al.2015
|
8ANZ
|
II.6
|
BBS7
|
c.1967_1968delTAinsC/c.1967_1968delTAinsC
|
p.Leu656fs*18/p.Leu656fs*18
|
cLOF/cLOF
|
|
F
|
0-9
|
1,5
|
|
1
|
1
|
|
|
|
|
|
|
Russian
|
|
Aldahmesh et al. 2014
|
AOMQ
|
BBS_DG6a
|
BBS7
|
c.602-2A>T/c.602-2A>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
0
|
|
Saudi Arabian
|
|
Aldahmesh et al. 2014
|
AOMQ
|
BBS_DG6b
|
BBS7
|
c.602-2A>T/c.602-2A>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Esposito et al. 2017
|
SC5U
|
P.1
|
BBS1
|
c.664G>C/c.664G>C
|
p.Gly222Arg/p.Gly222Arg
|
MS/MS
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
Laurier et al. 2006
|
00OK
|
A2
|
BBS10
|
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
F
|
40+
|
50
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Lebanese
|
|
Esposito et al. 2017
|
3JWE
|
P.2
|
BBS1
|
c.664G>C/c.664G>C
|
p.Gly222Arg/p.Gly222Arg
|
MS/MS
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
Laurier et al. 2006
|
00OK
|
A3
|
BBS10
|
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
F
|
40+
|
47
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Lebanese
|
|
Esposito et al. 2017
|
3JWE
|
P.4
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
70
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|