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
|
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
|
G0X5
|
A2012-II1
|
BBS2
|
c.1237C>T/c.1237C>T
|
p.Arg413*/p.Arg413*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
LOEF
|
A2011-II1
|
BBS8
|
c.122G>A/c.122G>A
|
p.Trp41*/p.Trp41*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|
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
|
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
|
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
|
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
|
H5B5
|
A2002-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
Pakistani
|
|
Laurier et al. 2006
|
00OK
|
A2
|
BBS10
|
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
F
|
40+
|
50
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Lebanese
|
|
Chaki et al. 2011
|
S87U
|
A197-21
|
BBS14
|
c.3175_3176insA/c.7341_7342insA
|
p.Ile1059fs*11/p.Leu2448fs*8
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Janssen et al. 2011
|
WUGA
|
A1885 0
|
BBS2
|
c.823C>T/c.1895G>C
|
p.Arg275*/p.Arg632Pro
|
cLOF/MS
|
|
|
|
|
1
|
|
0
|
0
|
|
1
|
|
|
0
|
USA
|
|
Chaki et al. 2011
|
LTKJ
|
A1715-21
|
BBS14
|
c.5311G>T/c.5445_5448delA
|
p.Glu1771*/p.Leu1815fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
BG5M
|
A1713-21
|
BBS14
|
c.5182G>T/c.6277del1
|
p.Glu1728*/p.Val2093fs*4
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
BG5M
|
A1713 -22
|
BBS14
|
c.5182G>T/c.6277del1
|
p.Glu1728*/p.Val2093fs*4
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
TVBG
|
A1388-21
|
BBS14
|
c.136G>T/c.5649_5650insA
|
p.Glu46*/p.Leu1884fs*23
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
WB7H
|
A1365-22
|
BBS16
|
c.1420del2/c.1420del2
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
WB7H
|
A1365-21
|
BBS16
|
c.1420del1/c.1420del1
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
FMNC
|
A1188-21
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Janssen et al. 2011
|
DRZF
|
A1155 0
|
BBS2
|
c.947G>A/c.947G>A
|
p.Gly316Asp/p.Gly316Asp
|
MS/MS
|
|
|
|
|
0
|
|
1
|
|
0
|
1
|
1
|
|
|
N. European
|
|
van Huet et al. 2013
|
VXOY
|
A-IV:1
|
BBS21
|
c.497T>A/c.497T>A
|
p.Leu166*/p.Leu166*
|
cLOF/cLOF
|
|
M
|
20-39
|
37
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
Khan et al. 2013
|
38GY
|
A V-4
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
M
|
10-19
|
12
|
1
|
0
|
1
|
0
|
0
|
|
0
|
|
|
Pakistani
|
|
Khan et al. 2013
|
38GY
|
A V-3
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
0
|
0
|
|
0
|
|
|
Pakistani
|
|
Khan et al. 2013
|
38GY
|
A V-2
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
M
|
10-19
|
19
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Pakistani
|
|
Khan et al. 2013
|
38GY
|
A IV-7
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
M
|
20-39
|
26
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Pakistani
|
|