|
Castro-Sanchez et al. 2015
|
H8IH
|
M499-(4993)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
73
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Spanish
|
|
|
Castro-Sanchez et al. 2015
|
DJ2Y
|
M622-(192)§
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
93
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
Spanish
|
|
|
Sathya Priya et al. 2015
|
QRH7
|
BBS-D1
|
BBS6
|
c.1595G>T/c.1549C>T
|
p.Gly532Val/p.Arg517Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
1
|
Indian
|
|
|
Sathya Priya et al. 2015
|
EI85
|
BBS-X
|
BBS6
|
c.1595G>T/c.1549C>T
|
p.Gly532Val/p.Arg517Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
|
Indian
|
|
|
Castro-Sanchez et al. 2015
|
WICN
|
M63 (1081)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
38
|
1
|
1
|
0
|
1
|
1
|
0
|
0
|
|
1
|
Spanish
|
|
|
Castro-Sanchez et al. 2015
|
QGJM
|
M713-(336)‡
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
20-39
|
35
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
|
Castro-Sanchez et al. 2015
|
QGJM
|
M713-(337)‡
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
20-39
|
33
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
|
Castro-Sanchez et al. 2015
|
VS17
|
RP1193 (747)
|
BBS1
|
|
p.Met390Arg/p.Arg146*
|
MS/cLOF
|
|
M
|
20-39
|
34
|
1
|
1
|
0
|
1
|
0
|
|
|
|
|
Spanish
|
|
|
Castro-Sanchez et al. 2015
|
U1ZZ
|
RP1378 (24)‡
|
BBS1
|
|
p.Met390Arg/p.Asp278fs*9
|
MS/cLOF
|
|
F
|
20-39
|
34
|
1
|
1
|
0
|
0
|
0
|
|
|
|
|
Spanish
|
|
|
Shaheen et al. 2016
|
HP63
|
F-47-84
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
Saudi Arabian
|
|
|
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
|
|
|
Iannaccone et al. 2005
|
M1KN
|
pat1
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
28
|
1
|
1
|
0
|
0
|
1
|
|
|
|
0
|
Italian
|
|
|
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
|
|
|
Iannaccone et al. 2005
|
M1KN
|
pat3
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
0
|
0
|
1
|
1
|
|
|
0
|
Italian
|
|
|
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
|
|
|
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
|
JOFV
|
AR61 (A2826) -4
|
BBS1
|
c.223_224delCT/c.1169T>G
|
p.Leu75fs*23/p.Met390Arg
|
cLOF/MS
|
|
|
|
|
1
|
1
|
0
|
1
|
0
|
0
|
|
|
|
N. European
|
|
|
Davies et al. 2018
|
C4MF
|
BBS001
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
30-39
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
|
Davies et al. 2018
|
GVB4
|
BBS004
|
BBS1
|
|
p.Met390Arg/splice
|
MS/cLOF
|
|
M
|
20-39
|
20-29
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
|
Davies et al. 2018
|
VQKL
|
BBS007
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
White European
|
|
|
Janssen et al. 2011
|
8Y4G
|
AR707 (A2864)-9
|
BBS10
|
c.271_272insT/c.1407T>G
|
p.Cys91fs*5/p.Tyr469*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
|
N. European
|
|
|
Shaheen et al. 2016
|
7GBT
|
F-15-22
|
BBS2
|
c.1015C>T/c.1015C>T
|
p.Arg339*/p.Arg339*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
|
Davies et al. 2018
|
XSEE
|
BBS008
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
|
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
|
|
|
Shaheen et al. 2016
|
QHSP
|
F-16-23
|
BBS2
|
c.806T>G/c.806T>G
|
p.Val269Gly/p.Val269Gly
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
1
|
|
1
|
Saudi Arabian
|
|