Agha et al. 2013
|
7E5A
|
IV-1
|
BBS10
|
c.1958_1967del/c.1958_1967del
|
p.Ser653Ilefs*4/p.Ser653Ilefs*4
|
cLOF/cLOF
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
1
|
Pakistani
|
|
Deveault et al. 2011
|
5J36
|
46
|
BBS6
|
|
p.Phe94Serfs*9/p.Phe94Serfs*9
|
cLOF/cLOF
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
1
|
1
|
1
|
1
|
Newfoundland
|
|
Deveault et al. 2011
|
DSU0
|
72
|
BBS6
|
|
p.Pro299Leu/p.Pro299Leu
|
MS/MS
|
|
F
|
10-19
|
13
|
1
|
1
|
1
|
0
|
1
|
1
|
|
0
|
1
|
French/Canadian
|
|
Kerr et al. 2015
|
ARZ9
|
18
|
BBS7
|
|
p.Arg238Glufs*59/p.Ser374*
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
1
|
1!
|
1
|
1
|
|
1
|
1
|
Peruvian/Spanish
|
[]
|
Kerr et al. 2015
|
YWXA
|
19e
|
BBS8
|
c.IVS2+1A/c.IVS2+1A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
17
|
1
|
1
|
1
|
1!
|
|
0
|
|
|
1
|
Pakistani
|
[]
|
Kerr et al. 2015
|
YWXA
|
20e
|
BBS8
|
c.IVS2+1A/c.IVS2+1A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
19
|
1
|
1
|
1
|
1
|
0
|
0
|
|
1
|
1
|
Pakistani
|
[]
|
Schaefer et al. 2016
|
JSX2
|
IV.3
|
BBS20
|
c.4428+3A>G/c.4428+3A>G
|
p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del
|
cLOF/cLOF
|
|
M
|
10-19
|
18
|
1
|
1
|
0
|
1
|
|
0
|
|
0
|
1
|
Melanesian
|
|
Ece Solmaz et al. 2015
|
DWMJ
|
3
|
BBS1
|
c.851delA/c.851delA
|
p.Tyr284Serfs*5/p.Tyr284Serfs*5
|
cLOF/cLOF
|
|
|
10-19
|
16
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
1
|
Turkish
|
|
Khan et al. 2013
|
ITYJ
|
B IV-5
|
BBS10
|
|
p.Gln359*/p.Gln359*
|
cLOF/cLOF
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
Pakistani
|
|
Schaefer et al. 2016
|
JSX2
|
IV.5
|
BBS20
|
c.4428+3A>G/c.4428+3A>G
|
p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del
|
cLOF/cLOF
|
|
M
|
10-19
|
13
|
1
|
1
|
1
|
|
1
|
0
|
|
0
|
1
|
Melanesian
|
|
Khan et al. 2013
|
ITYJ
|
B IV-6
|
BBS10
|
|
p.Gln359*/p.Gln359*
|
cLOF/cLOF
|
|
M
|
10-19
|
13
|
1
|
1
|
1
|
1
|
0
|
|
0
|
|
|
Pakistani
|
|
Ece Solmaz et al. 2015
|
WBR2
|
1
|
BBS10
|
c.931T>G/c.931T>G
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
|
10-19
|
16
|
1
|
0
|
1
|
1
|
1
|
0
|
1
|
0
|
1
|
Turkish
|
|
Ece Solmaz et al. 2015
|
XKAW
|
4
|
BBS10
|
c.1856_1865delAAAAATGCCA/c.1856_1865delAAAAATGCCA
|
p.Lys619Ilefs*10/p.Lys619Ilefs*10
|
cLOF/cLOF
|
|
|
10-19
|
13
|
1
|
0
|
1
|
1
|
0
|
1
|
0
|
0
|
1
|
Turkish
|
|
Ece Solmaz et al. 2015
|
O9MY
|
7
|
BBS10
|
c.1024_1025insA/c.1024_1025insA
|
p.Ile342Asnfs*20/p.Ile342Asnfs*20
|
cLOF/cLOF
|
|
|
10-19
|
15
|
1
|
1
|
0
|
1
|
1
|
0
|
0
|
0
|
1
|
Turkish
|
|
Ece Solmaz et al. 2015
|
2ZHF
|
8
|
BBS2
|
c.263delG/c.263delG
|
p.Gly88Alafs*6/p.Gly88Alafs*6
|
cLOF/cLOF
|
|
|
10-19
|
13
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
1
|
1
|
Turkish
|
|
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
|
|
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
|
|
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
|
|
Ece Solmaz et al. 2015
|
BXSX
|
9
|
BBS7
|
c.712_715delAGAG/c.712_715delAGAG
|
p.Arg238Glufs*59/p.Arg238Glufs*59
|
cLOF/cLOF
|
|
|
10-19
|
19
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
1
|
Turkish
|
|
Ece Solmaz et al. 2015
|
3AJL
|
11
|
BBS7
|
c.949C>G/c.949C>G
|
p.Leu317Val/p.Leu317Val
|
MS/MS
|
|
|
10-19
|
19
|
1
|
1
|
0
|
1
|
0
|
1
|
0
|
1
|
1
|
Turkish
|
|
Khan et al. 2016 (b)
|
OZLS
|
Iv-5
|
BBS9
|
c.299delC/c.299delC
|
p.Ser100Leufs*24/p.Ser100Leufs*24
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
1
|
Pakistani
|
|
Azari et al. 2006
|
H27Y
|
P1
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
16
|
0
|
|
1
|
1
|
|
1
|
1
|
|
|
USA
|
|
Azari et al. 2006
|
PUF2
|
P2
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
|
|
|
|
USA
|
|
Laurier et al. 2006
|
00OK
|
D5
|
BBS2
|
|
p.Gly139Val/p.Gly139Val
|
MS/MS
|
|
F
|
10-19
|
18
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Lebanese
|
|
Azari et al. 2006
|
R59Q
|
P3
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
17
|
0
|
|
1
|
|
|
|
1
|
1
|
|
USA
|
|