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
|
|
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
|
|
M'hamdi et al. 2013
|
5XR9
|
BBS-F03-A
|
BBS4
|
|
deletion of exons 4-6/deletion of exons 4-6
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
4,5
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
BK29
|
BBS-F10-A
|
BBS6
|
c.1272+1G>A/c.1272+1G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
UH14
|
BBS-F14-A
|
BBS8
|
c.459+1G>A/c.459+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
M
|
0-9
|
4
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
|
Tunisian
|
|
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
|
F7X3
|
3x
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
|
M
|
20-39
|
22
|
1
|
1
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Egyptian
|
|
Otto et al. 2010
|
4DOC
|
FII.22_21
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
1
|
1
|
|
|
|
NA
|
|
Otto et al. 2010
|
4DOC
|
FII.22_22
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
1
|
1
|
|
|
|
NA
|
|
Harville et al. 2010
|
C4K2
|
A2014-II1
|
BBS1
|
c.IVS1-1G>A/c.IVS1-1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
|
1
|
1
|
|
|
|
Turkish
|
|
Harville et al. 2010
|
CCK1
|
A2876-II1(AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
0
|
0
|
0
|
1
|
0
|
|
|
1
|
Europe
|
|
Harville et al. 2010
|
CCK1
|
A2876-II2 (AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Europe
|
|
Pereiro et al. 2010
|
VJ0Y
|
M250 II.3
|
BBS12
|
|
p.Phe372fs*2/p.Phe372fs*2
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Caucasian
|
|
Pereiro et al. 2010
|
VJ0Y
|
M250 II.6
|
BBS12
|
|
p.Phe372fs*2/p.Phe372fs*2
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Caucasian
|
|
Harville et al. 2010
|
2CSL
|
A2020-II1
|
BBS10
|
c.530A>G/c.530A>G
|
p.Tyr177Cys/p.Tyr177Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|
Harville et al. 2010
|
WRRU
|
A2003-II1
|
BBS12
|
c.1589T>C/c.1589T>C
|
p.Leu530Pro/p.Leu530Pro
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
S9R9
|
A2015-II1
|
BBS12
|
c.1589T>C/c.1589T>C
|
p.Leu530Pro/p.Leu530Pro
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
JVOM
|
A2008-II1
|
BBS4
|
c.IVS3-2A>G/c.IVS3-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
USA
|
|
Harville et al. 2010
|
ENNE
|
A2023-II1
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Turkish
|
|
Harville et al. 2010
|
H5B5
|
A2002-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
E9UF
|
A2027-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
1
|
|
1
|
0
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
S37F
|
A2004-II2
|
BBS7
|
c.711_714delGAGA/c.711_714delGAGA
|
p.Arg238fs*59/p.Arg238fs*59
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|
Harville et al. 2010
|
SRNJ
|
A2005-II1
|
BBS7
|
c.688T>C/c.688T>C
|
p.Trp320Arg/p.Trp320Arg
|
MS/MS
|
|
|
|
|
0
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Turkish
|
|
Harville et al. 2010
|
WDU9
|
A2875-II1
|
BBS7
|
c.188T>G/c.188T>G
|
p.Ile66Met/p.Ile66Met
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Europe
|
|