Deveault et al. 2011
|
UAMN
|
50
|
BBS5
|
|
p.Gly72Ser/p.Gly72Ser
|
MS/MS
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1!
|
1
|
0
|
|
1
|
1
|
Somalian
|
[]
|
Kerr et al. 2015
|
8WRO
|
14d
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
1!
|
1
|
Iraqi
|
[]
|
Deveault et al. 2011
|
WE5M
|
76
|
BBS6
|
|
p.Gly41Arg/p.Gly41Arg
|
MS/MS
|
|
M
|
0-9
|
8
|
1
|
1
|
1
|
|
|
|
1
|
|
|
Arabica
|
|
Kerr et al. 2015
|
8WRO
|
15d
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
1
|
Iraqi
|
[]
|
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
|
|
Kerr et al. 2015
|
D9ZV
|
16
|
BBS6
|
|
p.Cys99Arg/p.Cys99Arg
|
MS/MS
|
|
M
|
20-39
|
24
|
1
|
1
|
1
|
0
|
1
|
1
|
|
1
|
0
|
Portugese
|
[]
|
Schaefer et al. 2011(b)
|
QIBS
|
I.10
|
BBS10
|
c.271_272insT/c.1091delA
|
p.Cys91Leufs*5/p.Asn364Thrfs*5
|
cLOF/cLOF
|
|
F
|
|
|
1
|
0
|
1
|
|
1
|
1
|
|
|
|
French
|
|
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
|
RYP1
|
17
|
BBS6
|
|
p.Gly41Arg/p.Gly41Arg
|
MS/MS
|
|
F
|
0-9
|
7
|
1
|
1
|
1
|
0
|
|
1!
|
1
|
0
|
|
Arabica
|
|
Schaefer et al. 2011(b)
|
ESHT
|
II.6
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
French
|
|
Ajmal et al. 2013
|
8PK6
|
Family A IV:4
|
BBS1
|
c.47+1G>T/c.47+1G>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
1
|
Pakistani
|
|
Deveault et al. 2011
|
IXHU
|
4
|
BBS7
|
/IVS6+2T>C
|
p.Gly63Arg/splice
|
MS/cLOF
|
[]
|
F
|
40+
|
40
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
Italian
|
|
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
|
[]
|
Schaefer et al. 2011(b)
|
ZT7M
|
VII.26
|
BBS10
|
c.145C>T/c.145C>T
|
p.Arg49Trp/p.Arg49Trp
|
MS/MS
|
|
F
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
French
|
|
Deveault et al. 2011
|
IXHU
|
5
|
BBS7
|
/IVS6+2T>C
|
p.Gly63Arg/splice
|
MS/cLOF
|
|
M
|
20-39
|
33
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
1
|
Italian
|
|
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
|
[]
|
Schaefer et al. 2011(b)
|
JZRL
|
V.31
|
BBS6
|
c.110A>G/c.890T>C
|
p.Tyr37Cys/p.Ile297Thr
|
MS/MS
|
|
F
|
|
|
1
|
0
|
1
|
|
1
|
1
|
|
|
|
French
|
|
Ajmal et al. 2013
|
V4HF
|
Family B IV:3
|
BBS1
|
c.442G>A/c.442G>A
|
p.Asp148Asn/p.Asp148Asn
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
Pakistani
|
|
Deveault et al. 2011
|
81EN
|
71
|
BBS8
|
|
p.Gly162fs*4/p.Ile334fs*1
|
cLOF/cLOF
|
|
M
|
40+
|
44
|
1
|
1
|
1
|
1
|
1!
|
1
|
|
1
|
1
|
Mexican
|
[]
|
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. 2011(b)
|
LDHB
|
IV.3
|
BBS8
|
c.459G>A/c.459G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
French
|
|
Ajmal et al. 2013
|
V4HF
|
Family B IV:5
|
BBS1
|
c.442G>A/c.442G>A
|
p.Asp148Asn/p.Asp148Asn
|
MS/MS
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
0
|
Pakistani
|
|
Deveault et al. 2011
|
ERRX
|
35
|
BBS9
|
|
p.Thr111Leufs*22/p.Thr111Leufs*22
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
1
|
Italian
|
|
Schaefer et al. 2013
|
9V5G
|
II:2
|
BBS17
|
c.260T>C/c.778G>T
|
p.Leu87Pro/p.Glu260*
|
MS/cLOF
|
|
F
|
20-39
|
36
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
French
|
|