|
Leitch et al. 2008
|
RXWS
|
PB215-04
|
BBS13
|
|
p.Cys492Trp/p.Phe371del
|
MS/MS
|
|
M
|
0-9
|
2
|
0
|
1
|
1
|
|
|
0
|
|
0
|
0
|
Turkish
|
|
|
Leitch et al. 2008
|
IVV9
|
KK51-04
|
BBS14
|
|
p.Glu1903*/p.Glu1903*
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
0
|
1
|
|
1
|
|
0
|
1
|
Saudi Arabian
|
|
|
Leitch et al. 2008
|
7AAP
|
KK20-04
|
BBS9
|
c.2804G>A/c.2804G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
5
|
1
|
1
|
1
|
1
|
1
|
1
|
|
0
|
1
|
Saudi Arabian
|
|
|
Marion et al. 2012
|
CPKG
|
BBE93
|
BBS17
|
c.402-406d/c.402-406d
|
p.Pro136Thrfs*/p.Pro136Thrfs*
|
cLOF/cLOF
|
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
Algerian
|
|
|
Gerth et al. 2008
|
QWKB
|
2293
|
BBS1
|
|
p.Met390Arg/p.Asn524del
|
MS/MS
|
|
M
|
20-39
|
21
|
1
|
1
|
|
|
|
0
|
|
0
|
1
|
Canada
|
|
|
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
|
|
|
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
|
|
|
Gerth et al. 2008
|
O76S
|
2512
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
0
|
0
|
|
0
|
|
0
|
|
Canada
|
|
|
Billingsley et al. 2010
|
PXHX
|
60yy
|
BBS10
|
|
p.Lys188Thr/p.Ala636Val
|
MS/MS
|
[]
|
F
|
0-9
|
6
|
1
|
0
|
1
|
1
|
|
1
|
|
0
|
1
|
Turkish
|
|
|
Gerth et al. 2008
|
NSTJ
|
2597
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
21
|
1
|
1
|
1
|
1
|
|
0
|
|
0
|
|
Canada
|
|
|
Billingsley et al. 2010
|
PXHX
|
65y
|
BBS10
|
|
p.Leu55Pro/p.Glu274Valfs*29
|
MS/cLOF
|
[]
|
M
|
20-39
|
27
|
1
|
1
|
1
|
1
|
1
|
0
|
|
0
|
1
|
South African Black
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
24{
|
BBS12
|
|
p.Asp480Metfs*3/p.Asp480Metfs*3
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
6
|
1
|
0
|
1
|
|
1
|
1
|
|
0
|
1
|
Pakistani
|
|
|
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
|
|
|
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
|
|
|
Branfield Day et al. 2015
|
NA
|
15
|
BBS1
|
|
|
|
|
F
|
20-39
|
23
|
|
1
|
|
|
|
1
|
|
0
|
|
NA
|
|
|
Pawlik et al. 2010
|
RNS3
|
IV-2
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
20-39
|
30
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
|
Branfield Day et al. 2015
|
NA
|
7
|
BBS10
|
|
|
|
|
F
|
10-19
|
16
|
|
1
|
|
|
|
0
|
|
0
|
|
NA
|
|
|
Pawlik et al. 2010
|
RNS3
|
IV-3
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
20-39
|
27
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
|
Branfield Day et al. 2015
|
NA
|
16
|
BBS10
|
|
|
|
|
F
|
20-39
|
20,3
|
|
1
|
|
|
|
1
|
|
0
|
|
British
|
|
|
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
|
|