Janssen et al. 2011
|
ZIWZ
|
AR880 (A2881) -4
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
ODT5
|
F1 (A2891) -4
|
BBS10
|
c.271_272insT/c.391delC
|
p.Cys91fs*5/p.Gln131fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
ODT5
|
F1 (A2891)-5
|
BBS10
|
c.271_272insT/c.391delC
|
p.Cys91fs*5/p.Gln131fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
RZU9
|
F523 0
|
BBS10
|
c.539G>A/c.539G>A
|
p.Gly180Glu/p.Gly180Glu
|
MS/MS
|
|
|
|
|
|
|
|
|
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
HWI6
|
AR248 (A2843) -5
|
BBS12
|
c.998G>A/c.998G>A
|
p.Gly333Glu/p.Gly333Glu
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
N. European
|
|
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
|
4PPS
|
KK44 (A2884) -8
|
BBS4
|
c.IVS3-2A>G/c.IVS3-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
|
Saudi Arabian
|
|
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
|
|
Janssen et al. 2011
|
BYVF
|
AR14 (A2824) -4
|
BBS7
|
c.878A>C/c.878A>C
|
p.Gln293Pro/p.Gln293Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
BYVF
|
AR14 (A2824)-8
|
BBS7
|
c.878A>C/c.878A>C
|
p.Gln293Pro/p.Gln293Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
RGZ9
|
AR847 (A2877) -3
|
BBS9
|
c.2390_2393delAACA/c.2521_2522insAG
|
p.Lys628fs*22/p.Ala672fs*219
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
|
0
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
RGZ9
|
AR847 (A2877)-4
|
BBS9
|
c.2390_2393delAACA/c.2521_2522insAG
|
p.Lys628fs*22/p.Ala672fs*219
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
1PLE
|
PB233 (A2013) 0
|
BBS9
|
c.1556T>G/c.1556T>G
|
p.Leu350Arg/p.Leu350Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Turkish
|
|
Janssen et al. 2011
|
1PLE
|
PB2330
|
BBS9
|
c.1556T>G/c.1556T>G
|
p.Leu350Arg/p.Leu350Arg
|
MS/MS
|
|
|
|
|
|
1
|
1
|
|
|
|
|
|
|
Turkish
|
|
Janssen et al. 2011
|
K1J5
|
AR122 (A2831)d -4
|
BBS1
|
c.436C>T/c.1169T>G
|
p.Arg146*/p.Met390Arg
|
cLOF/MS
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
YNNI
|
AR603 (A2858) -3
|
BBS1
|
c.436C>T/c.1169T>G
|
p.Arg146*/p.Met390Arg
|
cLOF/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
YNNI
|
AR603 (A2858)-5
|
BBS1
|
c.436C>T/c.1169T>G
|
p.Arg146*/p.Met390Arg
|
cLOF/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
|
|
|
|
N. European
|
|