Shaheen et al. 2016
|
M87Y
|
F-198 281
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
|
|
|
1
|
Saudi Arabian
|
|
Janssen et al. 2011
|
HSBG
|
AR232 (A2839)-4
|
BBS10
|
c.271_272insT/c.1677delC
|
p.Cys91fs*5/p.Tyr559fs*1
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
N. European
|
|
Shaheen et al. 2016
|
FIFS
|
F-1-1
|
BBS2
|
c.700C>T/c.700C>T
|
p.Arg234*/p.Arg234*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Janssen et al. 2011
|
8Y4G
|
AR707 (A2864) -8
|
BBS10
|
c.271_272insT/c.1407T>G
|
p.Cys91fs*5/p.Tyr469*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
N. European
|
|
Shaheen et al. 2016
|
7GBT
|
F-15-21
|
BBS2
|
c.1015C>T/c.1015C>T
|
p.Arg339*/p.Arg339*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Janssen et al. 2011
|
WUGA
|
A1885 0
|
BBS2
|
c.823C>T/c.1895G>C
|
p.Arg275*/p.Arg632Pro
|
cLOF/MS
|
|
|
|
|
1
|
|
0
|
0
|
|
1
|
|
|
0
|
USA
|
|
Deveault et al. 2011
|
32AO
|
79
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
|
F
|
10-19
|
18
|
1
|
|
1
|
0
|
0
|
0
|
|
|
|
British
|
|
Deveault et al. 2011
|
32AO
|
80
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
British
|
|
Deveault et al. 2011
|
7233
|
74
|
BBS10
|
|
p.Cys91Leufs*5/p.Leu414Ser
|
cLOF/MS
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
0
|
|
1
|
|
0
|
1
|
British/Canadian/French/German
|
|
Deveault et al. 2011
|
FKM6
|
138
|
BBS10
|
c.197+1G>T/
|
splice/p.Leu600Ser
|
cLOF/MS
|
|
M
|
10-19
|
14
|
1
|
0
|
1
|
0
|
|
0
|
|
|
1
|
Mexican/Norwegian/Danish
|
|
Deveault et al. 2011
|
65LF
|
69
|
BBS2
|
|
p.Arg622*/p.Ala136Pro
|
cLOF/MS
|
|
F
|
0-9
|
7
|
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
South African Black/European/Asian
|
|
Kerr et al. 2015
|
KV2V
|
2
|
BBS1
|
|
p.Met242Argfs*83/p.Met390Arg
|
cLOF/MS
|
[]
|
F
|
20-39
|
29
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
English/Scottish/German/Iceland
|
[]
|
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
|
|
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
|
|
Esposito et al. 2017
|
7KX0
|
P.12
|
BBS10
|
c.2137_2140del/c.962A>G
|
p.Lys713Phefs*16/p.Tyr321Cys
|
cLOF/MS
|
[]
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
Lindstrand et al. 2016
|
1WD9
|
AR634-03
|
BBS7
|
|
deletion of exons 16-17/p.Gln293Pro
|
cLOF/MS
|
|
F
|
10-19
|
17
|
1
|
1
|
0
|
1
|
|
0
|
|
|
1
|
NA
|
|
Lindstrand et al. 2016
|
1WD9
|
AR634-04
|
BBS7
|
|
deletion of exons 16-17/p.Gln293Pro
|
cLOF/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
NA
|
|
Yoon et al. 2014
|
J447
|
brother
|
BBS10
|
c.235_236insA/c.530A>G
|
p.Thr78Asnfs*17/p.Tyr177Cys
|
cLOF/MS
|
|
M
|
0-9
|
6,5
|
1
|
1
|
0
|
|
|
1
|
|
|
1
|
Korean
|
|
Yoon et al. 2014
|
J447
|
case
|
BBS10
|
c.235_236insA/c.530A>G
|
p.Thr78Asnfs*17/p.Tyr177Cys
|
cLOF/MS
|
|
M
|
10-19
|
17,5
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Korean
|
|
Billingsley et al. 2010
|
6XEU
|
79z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
|
F
|
10-19
|
18
|
1
|
|
1
|
0
|
0
|
0
|
|
|
|
British
|
|
Billingsley et al. 2010
|
6XEU
|
80z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
British
|
|
Hjortshoj et al. 2009
|
H5EH
|
FO-10
|
BBS1
|
c.1091+3G>C/
|
splice/p.Met390Arg
|
cLOF/MS
|
|
M
|
20-39
|
31
|
1
|
0
|
1
|
0
|
|
|
|
|
|
Faroe Islands
|
|
Bujakowska et al. 2015
|
ARFT
|
Family 1, II.1
|
BBS20
|
c.1525-1G>A/c.4701C>A
|
splice/p.His1567Gln
|
cLOF/MS
|
|
|
10-19
|
15
|
1
|
1
|
1
|
|
|
0
|
|
1
|
|
White European
|
|
Bujakowska et al. 2015
|
ARFT
|
Family 1, II.2
|
BBS20
|
c.1525-1G>A/c.4701C>A
|
splice/p.His1567Gln
|
cLOF/MS
|
|
|
20-39
|
22
|
1
|
1
|
0
|
|
|
0
|
|
1
|
|
White European
|
|
Castro-Sanchez et al. 2015
|
E7CP
|
GBB19 (I)
|
BBS10
|
|
p.Cys91fs*4/p.Leu414Ser
|
cLOF/MS
|
|
M
|
20-39
|
20
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Spanish
|
|