|
M'hamdi et al. 2013
|
7H0X
|
BBS-F12-A
|
BBS1
|
c.39delA/c.39delA
|
p.Ala14Leufs*28/p.Ala14Leufs*28
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
14
|
0
|
0
|
0
|
1
|
0
|
1
|
|
|
|
Tunisian
|
|
|
Billingsley et al. 2010
|
CE16
|
22*
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
0
|
1
|
1
|
0
|
1
|
|
0
|
1
|
German/Italian
|
|
|
Gerth et al. 2008
|
BBNF
|
2301
|
BBS1
|
|
p.Asp8Asp (splice)/p.Arg483*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
1
|
1
|
Canada
|
|
|
M'hamdi et al. 2013
|
0P3E
|
BBS-F08-A
|
BBS10
|
c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC
|
p.Ser396Leufs*6/p.Ser396Leufs*6
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
|
Billingsley et al. 2010
|
CE16
|
55*
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
0
|
0
|
1
|
|
0
|
1
|
German/Italian
|
|
|
M'hamdi et al. 2013
|
0P3E
|
BBS-F08-B
|
BBS10
|
c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC
|
p.Ser396Leufs*6/p.Ser396Leufs*6
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
0
|
1
|
1
|
1
|
|
|
|
Tunisian
|
|
|
Gerth et al. 2008
|
TM2Q
|
2213
|
BBS10
|
|
p.Cys91Trp/p.Val707*fs*1
|
MS/cLOF
|
|
F
|
10-19
|
14
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
|
Billingsley et al. 2010
|
PXHX
|
66y
|
BBS10
|
|
p.Leu55Pro/p.Glu274Valfs*29
|
MS/cLOF
|
[]
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
1
|
0
|
|
1
|
1
|
South African Black
|
|
|
Gerth et al. 2008
|
IT83
|
2294
|
BBS10
|
|
p.Cys91fs*5/p.Arg103fs*8
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
|
Billingsley et al. 2010
|
6XEU
|
79z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
|
F
|
10-19
|
18
|
1
|
|
1
|
0
|
0
|
0
|
|
|
|
British
|
|
|
Gerth et al. 2008
|
OZTA
|
2296
|
BBS10
|
|
p.Cys91Trp/p.Ala474fs*10
|
MS/cLOF
|
|
M
|
10-19
|
12
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
|
M'hamdi et al. 2013
|
U5TO
|
BBS-F13-A
|
BBS5
|
c.149T>G/c.149T>G
|
p.Leu50Arg/p.Leu50Arg
|
MS/MS
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
|
Billingsley et al. 2010
|
6XEU
|
80z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
British
|
|
|
Gerth et al. 2008
|
OZTA
|
2621
|
BBS10
|
|
p.Cys91Trp/p.Ala474fs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
1
|
0
|
|
|
1
|
|
0
|
|
Canada
|
|
|
Billingsley et al. 2010
|
YAGJ
|
128**
|
BBS12
|
|
p.Arg355Gln/p.Arg355Gln
|
MS/MS
|
|
M
|
10-19
|
16
|
|
|
|
1
|
1
|
|
|
0
|
1
|
Canadian Native Indian
|
|
|
Billingsley et al. 2010
|
3PNW
|
56{
|
BBS12
|
|
p.Asp480Metfs*3/p.Asp480Metfs*3
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
1
|
|
0
|
|
Pakistani
|
|
|
Ghadami et al. 2000
|
YCV0
|
IV-14
|
BBS3
|
|
|
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
|
Billingsley et al. 2012
|
MESS
|
40
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
[]
|
|
10-19
|
16
|
1
|
1
|
0
|
1
|
0
|
1
|
0
|
0
|
1
|
East Indian
|
|
|
Billingsley et al. 2012
|
MESS
|
59
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
|
|
10-19
|
13
|
1
|
1
|
0
|
1!
|
0
|
1
|
1
|
1
|
1
|
East Indian
|
|
|
Branfield Day et al. 2015
|
NA
|
1
|
BBS10
|
|
|
|
|
F
|
10-19
|
15,2
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
|
Branfield Day et al. 2015
|
NA
|
2
|
BBS10
|
|
|
|
|
F
|
10-19
|
14,4
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
|
Branfield Day et al. 2015
|
NA
|
7
|
BBS10
|
|
|
|
|
F
|
10-19
|
16
|
|
1
|
|
|
|
0
|
|
0
|
|
NA
|
|
|
Pawlik et al. 2010
|
RNS3
|
IV-9
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
10-19
|
19
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
|
Branfield Day et al. 2015
|
NA
|
18
|
BBS10
|
|
|
|
|
M
|
10-19
|
18,2
|
|
1
|
|
|
|
1
|
|
0
|
|
German
|
|
|
Branfield Day et al. 2015
|
NA
|
21
|
BBS10
|
|
|
|
|
M
|
10-19
|
19,9
|
|
1
|
|
|
|
1
|
|
0
|
|
German
|
|