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
|
|
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
|
|
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
|
|
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
|
|
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
|
RZU9
|
F523 0
|
BBS10
|
c.539G>A/c.539G>A
|
p.Gly180Glu/p.Gly180Glu
|
MS/MS
|
|
|
|
|
|
|
|
|
|
1
|
|
|
|
N. European
|
|
Shaheen et al. 2016
|
K8I8
|
F-38-62
|
BBS2
|
c.508G>A/c.508G>A
|
p.Asp170Asn/p.Asp170Asn
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Saudi Arabian
|
|
Janssen et al. 2011
|
HWI6
|
AR248 (A2843) -5
|
BBS12
|
c.998G>A/c.998G>A
|
p.Gly333Glu/p.Gly333Glu
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
N. European
|
|
Shaheen et al. 2016
|
FMMH
|
F-78-140
|
BBS2
|
c.943C>T/c.943C>T
|
p.Arg315Trp/p.Arg315Trp
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
RM0J
|
BBS013
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
20-29
|
1
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
White European
|
|
Janssen et al. 2011
|
DRZF
|
A1155 0
|
BBS2
|
c.947G>A/c.947G>A
|
p.Gly316Asp/p.Gly316Asp
|
MS/MS
|
|
|
|
|
0
|
|
1
|
|
0
|
1
|
1
|
|
|
N. European
|
|
Shaheen et al. 2016
|
ZKT1
|
F-209 293
|
BBS20
|
c.4630C>T/c.4630C>T
|
p.Arg1544Cys/p.Arg1544Cys
|
MS/MS
|
|
|
|
|
|
|
1
|
|
|
|
|
1
|
|
Saudi Arabian
|
|
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
|
NAUR
|
32
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
MS/MS
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
0
|
0
|
|
1
|
1
|
Croatian
|
|
Deveault et al. 2011
|
ZR8V
|
19
|
BBS1
|
|
p.Met390Arg/p.Asn524del
|
MS/MS
|
[]
|
M
|
20-39
|
24
|
1
|
1
|
0
|
0
|
|
1
|
|
1
|
1
|
English
|
|
Deveault et al. 2011
|
1R6I
|
39
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
25
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
1
|
English/Irish
|
|
Deveault et al. 2011
|
QJBM
|
139
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
1
|
|
0
|
|
|
1
|
Nicaraguan
|
|
Deveault et al. 2011
|
0QQE
|
21
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
29
|
1
|
1
|
1
|
1
|
0
|
0
|
|
1
|
1
|
English/German/Canadian
|
|
Shaheen et al. 2016
|
NVC9
|
F-5-6
|
BBS4
|
c.1091C>A/c.1091C>A
|
p.Ala364Glu/p.Ala364Glu
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
1
|
Saudi Arabian
|
|
Deveault et al. 2011
|
W8RW
|
45
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
25
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
1
|
English/Scottish/French/Canadian
|
|
Janssen et al. 2011
|
BYVF
|
AR14 (A2824) -4
|
BBS7
|
c.878A>C/c.878A>C
|
p.Gln293Pro/p.Gln293Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
N. European
|
|