Castro-Sanchez et al. 2015
|
U7OU
|
RP1011 (1184)§
|
BBS12
|
|
p.Gly540Asp/p.Gly540Asp
|
MS/MS
|
|
F
|
40+
|
40
|
1
|
1
|
1
|
1
|
0
|
|
|
|
1
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
JJXV
|
B17 (132)§
|
BBS6
|
|
p.Leu454Pro/p.Leu454Pro
|
MS/MS
|
|
F
|
40+
|
43
|
1
|
1
|
1
|
1
|
0
|
|
1
|
|
1
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
POGM
|
M79 (1608)§
|
BBS6
|
|
p.Gly250Arg/p.Gly250Arg
|
MS/MS
|
|
F
|
20-39
|
36
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
0
|
Spanish
|
|
Cox et al. 2012
|
AZ4J
|
PT1
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
27
|
1
|
1
|
1
|
1
|
|
0
|
|
|
1
|
USA
|
|
Cox et al. 2012
|
D2VE
|
PT2
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
Cox et al. 2012
|
PZDS
|
PT3
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
Davies et al. 2018
|
C4MF
|
BBS001
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
30-39
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
PAQG
|
BBS002
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
60+
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
65XJ
|
BBS003
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
White European
|
|
Shaheen et al. 2016
|
XJQC
|
F-27-46
|
BBS19
|
c.296G>A/c.296G>A
|
p.Cys99Tyr/p.Cys99Tyr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
XJQC
|
F-27-47
|
BBS19
|
c.296G>A/c.296G>A
|
p.Cys99Tyr/p.Cys99Tyr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
RJCD
|
BBS005
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
60+
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
YJGI
|
BBS010
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
M
|
40+
|
50-59
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
YP1P
|
BBS011
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
M
|
40+
|
50-59
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
0EMR
|
BBS012
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
F
|
40+
|
50-59
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
X08Z
|
BBS014
|
BBS1
|
|
p.Met390Arg/p.Gly73*
|
MS/cLOF
|
|
F
|
20-39
|
30-39
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
White European
|
|
Deveault et al. 2011
|
JTJM
|
129
|
BBS1
|
|
p.Met390Arg/splice
|
MS/cLOF
|
|
M
|
0-9
|
9
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
1
|
Caucasian
|
|
Deveault et al. 2011
|
QGOK
|
10
|
BBS10
|
|
p.Cys91Trp/p.Val707*fs*1
|
MS/cLOF
|
[]
|
F
|
10-19
|
17
|
1
|
1
|
1
|
1!
|
|
1!
|
|
1
|
1
|
English/Irish
|
|
Deveault et al. 2011
|
R7SY
|
65
|
BBS10
|
|
p.Leu55Pro/p.Glu274Valfs*29
|
MS/cLOF
|
[]
|
M
|
20-39
|
27
|
1
|
1
|
1
|
1
|
1
|
0
|
|
1
|
1
|
South African Black/European/Asian
|
|
Deveault et al. 2011
|
R7SY
|
66
|
BBS10
|
|
p.Leu55Pro/p.Glu274Valfs*29
|
MS/cLOF
|
[]
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
1
|
0
|
|
1
|
1
|
South African Black/European/Asian
|
|
Katsanis et al. 2000
|
RAHD
|
NF-B5
|
BBS6
|
|
p.Leu277Pro/p.Phe94fs*10
|
MS/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Deveault et al. 2011
|
XBKC
|
124
|
BBS12
|
|
p.Gln293Glu/p.Phe372*fs*1
|
MS/cLOF
|
|
F
|
40+
|
64
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
0
|
Caucasian
|
|
Kerr et al. 2015
|
03JU
|
1
|
BBS1
|
|
p.Ile330Thr/p.Arg483*
|
MS/cLOF
|
[]
|
F
|
20-39
|
23
|
1
|
1
|
1
|
1!
|
0
|
1
|
|
1
|
1
|
Polish
|
[]
|
Kerr et al. 2015
|
1GW6
|
3a
|
BBS1
|
|
p.Met390Arg/p.Leu505Profs*52
|
MS/cLOF
|
|
F
|
20-39
|
32
|
1
|
1
|
1
|
0
|
|
0
|
|
0
|
1
|
English/Irish/Scotish
|
[]
|
Kerr et al. 2015
|
1GW6
|
4a
|
BBS1
|
|
p.Met390Arg/p.Leu505Profs*52
|
MS/cLOF
|
[]
|
M
|
20-39
|
30
|
1
|
1
|
1
|
0
|
|
0
|
|
1!
|
0
|
English/Irish/Scotish
|
[]
|