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
|
|
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
|
|
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
|
|
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
|
|
Harville et al. 2010
|
2RC7
|
A2880-II1
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
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
|
|
Harville et al. 2010
|
2RC7
|
A2880-II2
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
|
1
|
1
|
|
0
|
|
|
|
|
Europe
|
|
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
|
OWHJ
|
A2885-II1 (AKK65)
|
BBS1
|
c.IVS2+1G>A/c.IVS2+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Saudi Arabian
|
|
Pereiro et al. 2010
|
CA0L
|
RP1011 II.1
|
BBS12
|
|
p.Gly540Asp/p.Gly540Asp
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Caucasian
|
|
Harville et al. 2010
|
OWHJ
|
A2885-II2 (AKK65)
|
BBS1
|
c.IVS2+1G>A/c.IVS2+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
1
|
Saudi Arabian
|
|
Pereiro et al. 2010
|
0KMP
|
M446 II.1
|
BBS3
|
|
p.Gly2*/p.Gly2*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
0
|
|
|
|
|
|
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
|
|
Pereiro et al. 2010
|
0KMP
|
M446 II.2
|
BBS3
|
|
p.Gly2*/p.Gly2*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Caucasian
|
|
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
|
|
Pereiro et al. 2010
|
EO6P
|
B17 II.1
|
BBS6
|
|
p.Leu454Pro/p.Leu454Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Caucasian
|
|
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
|
|
Pereiro et al. 2010
|
M9QZ
|
M79 II.2
|
BBS6
|
|
p.Gly250Arg/p.Gly250Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Caucasian
|
|
Harville et al. 2010
|
LVPF
|
A2017-II1
|
BBS12
|
c.1483_1484delGA/c.1483_1484delGA
|
p.Glu495fs*4/p.Glu495fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
Turkish
|
|
Phelps et al. 2017
|
MDPS
|
UW013-3
|
BBS14
|
|
|
|
[]
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
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
|
|
Phelps et al. 2017
|
MDPS
|
UW013-4
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Harville et al. 2010
|
J9M7
|
A2025-II1
|
BBS2
|
c.68G>C/c.68G>C
|
p.Arg23Pro/p.Arg23Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
|
Turkish
|
|
Phelps et al. 2017
|
6S11
|
UW045-3
|
BBS14
|
|
|
|
|
|
|
|
0
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
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
|
|