Castro-Sanchez et al. 2015
|
RCBI
|
RP1731 (I)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
19
|
1
|
1
|
1
|
0
|
|
0
|
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
|
ZA2M
|
RP916 (1072)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
57
|
1
|
1
|
1
|
0
|
|
0
|
1
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
ZA2M
|
RP916 (1339)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
32
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
1E9W
|
B182 (910)
|
BBS10
|
|
p.Val331Ala/p.Leu533Leufs*21
|
MS/cLOF
|
|
M
|
40+
|
48
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
|
1
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
E7CP
|
GBB19 (I)
|
BBS10
|
|
p.Cys91fs*4/p.Leu414Ser
|
cLOF/MS
|
|
M
|
20-39
|
20
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
9WGR
|
GBB2 (102)
|
BBS10
|
|
p.Tyr559fs*17/p.Tyr559fs*17
|
cLOF/cLOF
|
|
M
|
40+
|
46
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
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
|
|
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
|
|
Shaheen et al. 2016
|
42YK
|
F-155 223
|
BBS14
|
c.4714G>T/c.4714G>T
|
p.Glu1572*/p.Glu1572*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
0
|
|
|
1
|
Saudi Arabian
|
|
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
|
|
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
|
|
Cox et al. 2012
|
D2VE
|
PT2
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
Janssen et al. 2011
|
JOFV
|
AR61 (A2826)-5
|
BBS1
|
c.223_224delCT/c.616T>G
|
p.Leu75fs*23/p.Leu206Val
|
MS/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
N. European
|
|
Cox et al. 2012
|
PZDS
|
PT3
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
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
|
|
Shaheen et al. 2016
|
INH9
|
F-192 275
|
BBS14
|
c.4811G>A/c.4811G>A
|
p.Trp1604*/p.Trp1604*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
0
|
|
|
1
|
Saudi Arabian
|
|
Davies et al. 2018
|
PAQG
|
BBS002
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
60+
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Janssen et al. 2011
|
HSBG
|
AR232 (A2839)-4
|
BBS10
|
c.271_272insT/c.1677delC
|
p.Cys91fs*5/p.Tyr559fs*1
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
N. 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
|
|
Janssen et al. 2011
|
18IG
|
AR515 (A2857) -3
|
BBS10
|
c.271_272insT/c.1250C>T
|
p.Cys91fs*5/p.Ala417Val
|
cLOF/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
N. European
|
|
Davies et al. 2018
|
PHRO
|
BBS006
|
BBS1
|
|
p.Met390Arg/p.Gly73*
|
MS/cLOF
|
|
M
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
1
|
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
|
|