Branfield Day et al. 2015
|
NA
|
17
|
BBS10
|
|
|
|
|
F
|
20-39
|
22,3
|
|
1
|
|
|
|
1
|
|
1
|
|
British/Irish
|
|
Pereiro et al. 2010
|
VJ0Y
|
M250 II.3
|
BBS12
|
|
p.Phe372fs*2/p.Phe372fs*2
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Caucasian
|
|
Branfield Day et al. 2015
|
NA
|
18
|
BBS10
|
|
|
|
|
M
|
10-19
|
18,2
|
|
1
|
|
|
|
1
|
|
0
|
|
German
|
|
Pereiro et al. 2010
|
VJ0Y
|
M250 II.6
|
BBS12
|
|
p.Phe372fs*2/p.Phe372fs*2
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Caucasian
|
|
Branfield Day et al. 2015
|
NA
|
21
|
BBS10
|
|
|
|
|
M
|
10-19
|
19,9
|
|
1
|
|
|
|
1
|
|
0
|
|
German
|
|
Pereiro et al. 2010
|
CA0L
|
RP1011 II.1
|
BBS12
|
|
p.Gly540Asp/p.Gly540Asp
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Caucasian
|
|
Branfield Day et al. 2015
|
NA
|
3
|
BBS16
|
|
|
|
|
F
|
10-19
|
17,9
|
|
1
|
|
|
|
1
|
|
0
|
|
Indian
|
|
Pereiro et al. 2010
|
0KMP
|
M446 II.1
|
BBS3
|
|
p.Gly2*/p.Gly2*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Caucasian
|
|
Branfield Day et al. 2015
|
NA
|
4
|
BBS16
|
|
|
|
|
F
|
10-19
|
14,6
|
|
1
|
|
|
|
1
|
|
1
|
|
Indian
|
|
Pereiro et al. 2010
|
0KMP
|
M446 II.2
|
BBS3
|
|
p.Gly2*/p.Gly2*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Caucasian
|
|
Branfield Day et al. 2015
|
NA
|
9
|
BBS2
|
|
|
|
|
F
|
10-19
|
14,3
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Pereiro et al. 2010
|
EO6P
|
B17 II.1
|
BBS6
|
|
p.Leu454Pro/p.Leu454Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Caucasian
|
|
Branfield Day et al. 2015
|
NA
|
8
|
BBS4
|
|
|
|
|
F
|
10-19
|
15,1
|
|
1
|
|
|
|
1
|
|
0
|
|
French
|
|
Pereiro et al. 2010
|
M9QZ
|
M79 II.2
|
BBS6
|
|
p.Gly250Arg/p.Gly250Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Caucasian
|
|
Branfield Day et al. 2015
|
NA
|
10
|
BBS4
|
|
|
|
|
M
|
10-19
|
15,6
|
|
1
|
|
|
|
0
|
|
0
|
|
Iraqi
|
|
Phelps et al. 2017
|
MDPS
|
UW013-3
|
BBS14
|
|
|
|
[]
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Branfield Day et al. 2015
|
NA
|
11
|
BBS4
|
|
|
|
|
F
|
10-19
|
18
|
|
1
|
|
|
|
0
|
|
0
|
|
Iraqi
|
|
Phelps et al. 2017
|
MDPS
|
UW013-4
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Branfield Day et al. 2015
|
NA
|
19
|
BBS6
|
|
|
|
|
M
|
20-39
|
22,2
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Phelps et al. 2017
|
6S11
|
UW045-3
|
BBS14
|
|
|
|
|
|
|
|
0
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Branfield Day et al. 2015
|
NA
|
20
|
BBS6
|
|
|
|
|
M
|
20-39
|
22,4
|
|
1
|
|
|
|
0
|
|
0
|
|
Portugese
|
|
Phelps et al. 2017
|
6S11
|
UW045-4
|
BBS14
|
|
|
|
|
|
|
|
0
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
Branfield Day et al. 2015
|
NA
|
14
|
BBS7
|
|
|
|
|
F
|
10-19
|
18,1
|
|
1
|
|
|
|
1
|
|
0
|
|
Peruvian
|
|
Phelps et al. 2017
|
HKJC
|
UW220-3
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Branfield Day et al. 2015
|
NA
|
5
|
BBS8
|
|
|
|
|
F
|
10-19
|
14,6
|
|
1
|
|
|
|
0
|
|
0
|
|
Pakistani
|
|