Janssen et al. 2011
|
YNNI
|
AR603 (A2858) -3
|
BBS1
|
c.436C>T/c.1169T>G
|
p.Arg146*/p.Met390Arg
|
cLOF/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
|
|
|
1
|
N. European
|
|
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
|
|
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
|
|
Janssen et al. 2011
|
X0N3
|
PB206 (A2024) 0
|
BBS1
|
c.IVS5-1G>C/c.IVS5-1G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Turkish
|
|
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
|
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
|
N3GL
|
AR151 (A2834) -4
|
BBS10
|
c.271_272insT/c.1676_1677insA
|
p.Cys91fs*5/p.Tyr559fs*1
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
|
|
|
1
|
N. 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
|
|
Shaheen et al. 2016
|
XJQC
|
F-27-46
|
BBS19
|
c.296G>A/c.296G>A
|
p.Cys99Tyr/p.Cys99Tyr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Saudi Arabian
|
|
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
|
|
Shaheen et al. 2016
|
XJQC
|
F-27-47
|
BBS19
|
c.296G>A/c.296G>A
|
p.Cys99Tyr/p.Cys99Tyr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
FIFS
|
F-1-1
|
BBS2
|
c.700C>T/c.700C>T
|
p.Arg234*/p.Arg234*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
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
|
|
Janssen et al. 2011
|
8Y4G
|
AR707 (A2864) -8
|
BBS10
|
c.271_272insT/c.1407T>G
|
p.Cys91fs*5/p.Tyr469*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
N. European
|
|
Shaheen et al. 2016
|
7GBT
|
F-15-21
|
BBS2
|
c.1015C>T/c.1015C>T
|
p.Arg339*/p.Arg339*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-1
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
F
|
20-39
|
25
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-2
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
F
|
20-39
|
30
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
N5JK
|
BBS009
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
30-39
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
White European
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-3
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
F
|
20-39
|
27
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-4
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
M
|
20-39
|
22
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Janssen et al. 2011
|
WUGA
|
A1885 0
|
BBS2
|
c.823C>T/c.1895G>C
|
p.Arg275*/p.Arg632Pro
|
cLOF/MS
|
|
|
|
|
1
|
|
0
|
0
|
|
1
|
|
|
0
|
USA
|
|
Davies et al. 2018
|
AMYR
|
BBS015
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
40-49
|
1
|
1
|
0
|
0
|
1
|
0
|
0
|
|
|
White European
|
|
Deveault et al. 2011
|
2YSJ
|
1
|
BBS1
|
|
p.Arg160Gln/p.Arg160Gln
|
MS/MS
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
Swiss
|
|
Deveault et al. 2011
|
F2VY
|
47
|
BBS1
|
|
p.Ile296Thrfs*7/p.Ile296Thrfs*7
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
9
|
1
|
1
|
1
|
0
|
|
1
|
|
1
|
1
|
Pakistani
|
|