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
|
|
Castro-Sanchez et al. 2015
|
40IX
|
RP1568 (502)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
54
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
40IX
|
RP1568 (504)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
50
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
BV7K
|
RP294 (4352)‡
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
20-39
|
38
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
BV7K
|
RP294 (4707)‡
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
20-39
|
31
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
ORRW
|
GBB1 (100)
|
BBS10
|
|
p.Tyr559fs*17/p.Tyr559fs*17
|
cLOF/cLOF
|
|
F
|
20-39
|
33
|
1
|
1
|
1
|
|
1
|
1
|
1
|
|
|
Spanish
|
|
Chaki et al. 2011
|
H8CI
|
F1054-21
|
BBS16
|
c.1796T>G/c.1796T>G
|
p.Leu599* /p.Leu599*
|
cLOF/cLOF
|
|
F
|
|
|
0
|
|
|
0
|
1
|
1
|
|
0
|
|
NA
|
|
Castro-Sanchez et al. 2015
|
CK6O
|
RP1032 (32)¶
|
BBS10
|
|
p.Gln284*/p.Gln284*
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
|
|
|
|
|
|
Spanish
|
|
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
|
[]
|
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
|
|
Iannaccone et al. 2005
|
M1KN
|
pat2
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1
|
0
|
|
|
|
1
|
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
|
|
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
|
|
Castro-Sanchez et al. 2015
|
JJXV
|
B17 (132)§
|
BBS6
|
|
p.Leu454Pro/p.Leu454Pro
|
MS/MS
|
|
F
|
40+
|
43
|
1
|
1
|
1
|
1
|
0
|
|
1
|
|
1
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
POGM
|
M79 (1608)§
|
BBS6
|
|
p.Gly250Arg/p.Gly250Arg
|
MS/MS
|
|
F
|
20-39
|
36
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
0
|
Spanish
|
|
Castro-Sanchez et al. 2017
|
LDBP
|
Case 2
|
BBS2
|
c.565C>T/c.565C>T
|
p.Arg189*/p.Arg189*
|
cLOF/cLOF
|
|
F
|
10-19
|
14
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Spanish
|
|
Cox et al. 2012
|
AZ4J
|
PT1
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
27
|
1
|
1
|
1
|
1
|
|
0
|
|
|
1
|
USA
|
|
Cox et al. 2012
|
D2VE
|
PT2
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
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
|
65XJ
|
BBS003
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
RJCD
|
BBS005
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
60+
|
1
|
1
|
1
|
0
|
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
|
|
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
|
|