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
|
|
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
|
|
Janssen et al. 2011
|
VL78
|
A2296 0
|
BBS2
|
c.823C>T/c.823C>T
|
p.Arg275*/p.Arg275*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
1
|
|
|
1
|
1
|
|
|
USA
|
|
Janssen et al. 2011
|
NZSY
|
A3436 0
|
BBS2
|
c.940delA/c.IVS6+2
|
p.Ile314fs*11/splice
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
|
|
1
|
|
|
|
Turkey
|
|
Janssen et al. 2011
|
F9UG
|
AR124 (A2832) -3
|
BBS2
|
c.IVS3-1delG/c.1371delG
|
p.Val158fs*43/p.Leu457fs*30
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
1
|
N. European
|
[]
|
Janssen et al. 2011
|
F9UG
|
AR124 (A2832)-4
|
BBS2
|
c.IVS3-1delG/c.1371delG
|
p.Val158fs*43/p.Leu457fs*30
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
1
|
N. European
|
[]
|
Janssen et al. 2011
|
WN8I
|
AR724 (A2866) -5
|
BBS2
|
c.175C>T/c.72C>G
|
p.Gln59*/p.Tyr24*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
[]
|
Janssen et al. 2011
|
CAEM
|
AR839 (A2874) -4
|
BBS2
|
c.1438C>T/c.1237C>T
|
p.Arg480*/p.Arg413*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
1
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
RRH7
|
AR850 (A2878) -3
|
BBS2
|
c.72C>G/c.504delG
|
p.Tyr24*/p.Leu168fs*33
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
RRH7
|
AR850 (A2878) -4
|
BBS2
|
c.72C>G/c.504delG
|
p.Tyr24*/p.Leu168fs*33
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
N. European
|
|
Abu-Safieh et al. 2012
|
H4C9
|
BBS-F024-A
|
BBS2
|
c.1207C>T/c.1207C>T
|
p.Arg403Cys/p.Arg403Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Katsanis et al. 2001
|
QDX9
|
AR029²
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
4RJW
|
AR171²
|
BBS2
|
|
p.Asp104Ala/p.Arg634Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
0
|
|
|
0
|
European/American
|
|
Katsanis et al. 2001
|
ZH2A
|
AR241\
|
BBS2
|
|
p.Arg315Gln/p.Arg315Gln
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
0
|
European/American
|
|
Katsanis et al. 2001
|
VLFH
|
AR259§\
|
BBS2
|
|
p.Tyr24*/p.Gln59*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
0
|
European/American
|
|
Katsanis et al. 2001
|
8ZLD
|
AR579§
|
BBS2
|
|
p.Leu168fs*3/p.Arg216*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
IV3A
|
K059²
|
BBS2
|
|
p.Arg315Trp/p.Arg315Trp
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
NA
|
|
Katsanis et al. 2001
|
NITU
|
NFB14§
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
Newfoundland
|
|
Katsanis et al. 2001
|
9JDZ
|
PB005²
|
BBS2
|
|
p.Arg275*/p.Arg275*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
Z6T8
|
PB020²
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
|
European/American
|
|
Katsanis et al. 2001
|
XLCX
|
PB026²
|
BBS2
|
|
p.Asp170fs*2/p.Asp170fs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
WIEN
|
PB043\
|
BBS2
|
|
p.Thr560Ile/p.Thr560Ile
|
MS/MS
|
[]
|
|
|
|
0
|
1
|
1
|
|
|
0
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
H5L1
|
PB058²
|
BBS2
|
|
p.Cys210fs*37/p.Cys210fs*37
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
1
|
European/American
|
|
Deveault et al. 2011
|
4P7U
|
73
|
BBS2
|
|
p.Arg413*/p.Arg413*
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
3
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Arabica
|
|
Deveault et al. 2011
|
65LF
|
69
|
BBS2
|
|
p.Arg622*/p.Ala136Pro
|
cLOF/MS
|
|
F
|
0-9
|
7
|
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
South African Black/European/Asian
|
|