Shaheen et al. 2016
|
3MZE
|
F-2-2
|
BBS5
|
c.532G>A/c.532G>A
|
p.Gly178Arg/p.Gly178Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
|
|
|
|
|
|
1
|
Saudi Arabian
|
|
Kamme et al. 2016
|
L4YK
|
II-1
|
BBS5
|
c.790G>A/c.790G>A
|
p.Gly264Arg/p.Gly264Arg
|
MS/MS
|
|
M
|
10-19
|
12
|
1
|
1
|
0
|
|
|
|
|
|
|
Swedish
|
|
Shaheen et al. 2016
|
3MZE
|
F-2-3
|
BBS5
|
c.532G>A/c.532G>A
|
p.Gly178Arg/p.Gly178Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
|
|
|
|
|
|
1
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
M722
|
BBS-F011-A
|
BBS10
|
c.1365T>G/c.1365T>G
|
p.Tyr455*/p.Tyr455*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
QT17
|
F-25-41
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Saudi Arabian
|
|
Katsanis et al. 2000
|
0DJ3
|
AR237 1
|
BBS6
|
|
p.Tyr37Cys/p.Tyr37Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
European/American
|
[]
|
Shaheen et al. 2016
|
QT17
|
F-25-42
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
|
|
|
|
1
|
1
|
1
|
|
|
|
1
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
7233
|
74
|
BBS10
|
|
p.Cys91Leufs*5/p.Leu414Ser
|
cLOF/MS
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
0
|
|
1
|
|
0
|
1
|
British/Canadian/French/German
|
|
Katsanis et al. 2000
|
L1JD
|
AR301
|
BBS6
|
|
p.Tyr58Ala/p.Tyr58Ala
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
0
|
|
|
|
European/American
|
|
Shaheen et al. 2016
|
QT17
|
F-25-43
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
|
|
|
|
1
|
0
|
1
|
|
1
|
|
1
|
|
Saudi Arabian
|
|
Katsanis et al. 2000
|
SZVU
|
NF-B1 1
|
BBS6
|
|
p.Asp143fs*15/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
SZVU
|
NF-B1 2
|
BBS6
|
|
p.Asp143fs*15/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Deveault et al. 2011
|
QGOK
|
10
|
BBS10
|
|
p.Cys91Trp/p.Val707*fs*1
|
MS/cLOF
|
[]
|
F
|
10-19
|
17
|
1
|
1
|
1
|
1!
|
|
1!
|
|
1
|
1
|
English/Irish
|
|
Katsanis et al. 2000
|
Y5Z6
|
NF-B13 1
|
BBS6
|
|
p.Asp143fs*15/p.Asp143fs*15
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
Y5Z6
|
NF-B13 2
|
BBS6
|
|
p.Asp143fs*15/p.Asp143fs*15
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Shaheen et al. 2016
|
CNZJ
|
F-73-134
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
AUFJ
|
BBS-F028-A
|
BBS12
|
c.1993_1996del/c.1993_1996del
|
p.Val665Leufs*14/p.Val665Leufs*14
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
|
1
|
0
|
0
|
|
Saudi Arabian
|
|
Katsanis et al. 2000
|
GLPO
|
NF-B3 1
|
BBS6
|
|
p.Phe94fs*10/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Shaheen et al. 2016
|
CNZJ
|
F-73-135
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
Y63A
|
BBS-F032-A
|
BBS13
|
Exon1loss/
|
loss of exon 1/loss of exon 1
|
cLOF/cLOF
|
|
|
|
|
|
1
|
1
|
|
|
1
|
1
|
1
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
D90X
|
60
|
BBS10
|
|
p.Lys188Thr/p.Ala636Val
|
MS/MS
|
[]
|
F
|
0-9
|
6
|
|
1
|
1
|
1
|
|
1
|
1
|
|
1
|
Turkish
|
|
Katsanis et al. 2000
|
GLPO
|
NF-B3 2
|
BBS6
|
|
p.Phe94fs*10/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
0
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
H6BV
|
NF-B4 1
|
BBS6
|
|
p.Phe94fs*10/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Shaheen et al. 2016
|
ZE22
|
F-8-13
|
BBS5
|
c.1A>T/c.1A>T
|
start codon defect/start codon defect
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
|
|
|
|
|
Saudi Arabian
|
|
Katsanis et al. 2000
|
H6BV
|
NF-B4 2
|
BBS6
|
|
p.Phe94fs*10/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|