Pereiro et al. 2010
|
VJ0Y
|
M250 II.6
|
BBS12
|
|
p.Phe372fs*2/p.Phe372fs*2
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Caucasian
|
|
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
|
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
|
LVPF
|
A2017-II1
|
BBS12
|
c.1483_1484delGA/c.1483_1484delGA
|
p.Glu495fs*4/p.Glu495fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
Turkish
|
|
Braun et al. 2014
|
NA
|
18
|
BBS12
|
|
|
|
|
F
|
20-39
|
22
|
1
|
|
|
1
|
|
|
|
|
|
French
|
|
Braun et al. 2014
|
NA
|
19
|
BBS12
|
|
|
|
|
M
|
20-39
|
39
|
1
|
|
|
1
|
|
|
|
|
|
French
|
|
Sathya Priya et al. 2015
|
MAED
|
BBS-J
|
BBS12
|
c.704C>G/c.704C>G
|
p.Pro108Arg/p.Pro108Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
0
|
|
0
|
|
|
1
|
Indian
|
|
Sathya Priya et al. 2015
|
YFO2
|
BBS-Z
|
BBS12
|
c.223delC/c.223delC
|
p.Gln75Leufs*37/p.Gln75Leufs*37
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
1
|
|
1
|
Indian
|
|
Shaheen et al. 2016
|
9H7D
|
F-12-18
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
N49S
|
F-21-31
|
BBS12
|
c.2041_2049del/c.2041_2049del
|
p.Leu682_Leu684del/p.Leu682_Leu684del
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
N49S
|
F-21-32
|
BBS12
|
c.2041_2049del/c.2041_2049del
|
p.Leu682_Leu684del/p.Leu682_Leu684del
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
4SJL
|
81
|
BBS12
|
|
p.Leu88Arg/p.Asn461Lysfs*10
|
MS/cLOF
|
|
F
|
10-19
|
14
|
1
|
1
|
1
|
0
|
1
|
1
|
0
|
1
|
1!
|
Spanish
|
[]
|
Shaheen et al. 2016
|
6TP3
|
F-22-33
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
NKMZ
|
164
|
BBS12
|
|
p.Gly539Asp/p.Pro632Phefs*7
|
MS/cLOF
|
|
M
|
40+
|
50
|
1
|
1
|
1
|
1
|
1!
|
1
|
0
|
1
|
1!
|
Spanish
|
[]
|
Shaheen et al. 2016
|
6TP3
|
F-22-34
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
B2KB
|
GBB35 (I)§
|
BBS12
|
|
p.Gly539Asp/p.Gly539Asp
|
MS/MS
|
|
F
|
40+
|
49
|
1
|
1
|
1
|
1
|
0
|
1
|
1
|
1
|
1
|
Spanish
|
|
Shaheen et al. 2016
|
6TP3
|
F-22-35
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
IZKQ
|
GBB4 (107)
|
BBS12
|
|
p.Gly361fs*21/p.Thr380fs*2
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
0
|
1
|
1
|
1
|
1
|
0
|
1
|
|
1
|
Spanish
|
|
Shaheen et al. 2016
|
6TP3
|
F-22-36
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
9VM7
|
M250-(127)‡
|
BBS12
|
|
p.Phe372fs*1/p.Phe372fs*1
|
cLOF/cLOF
|
|
M
|
40+
|
53
|
1
|
1
|
1
|
0
|
1
|
|
0
|
|
0
|
Spanish
|
|
Shaheen et al. 2016
|
TFZC
|
F-9-14
|
BBS12
|
c.2041_2049del/c.2041_2049del
|
p.Leu682_Leu684del/p.Leu682_Leu684del
|
MS/MS
|
|
|
|
|
1
|
|
1
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
9VM7
|
M250-(130)‡
|
BBS12
|
|
p.Phe372fs*1/p.Phe372fs*1
|
cLOF/cLOF
|
|
M
|
40+
|
46
|
1
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
T2D0
|
M333-(826)
|
BBS12
|
|
p.Phe372fs*1/p.Phe372fs*1
|
cLOF/cLOF
|
|
F
|
20-39
|
37
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
0
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
U7OU
|
RP1011 (1184)§
|
BBS12
|
|
p.Gly540Asp/p.Gly540Asp
|
MS/MS
|
|
F
|
40+
|
40
|
1
|
1
|
1
|
1
|
0
|
|
|
|
1
|
Spanish
|
|