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
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:2
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
|
F
|
|
|
1
|
0
|
1
|
1
|
0
|
0
|
0
|
|
0
|
Spanish
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:4
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
[]
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
0
|
Spanish
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:5
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
0
|
Spanish
|
|
Schaefer et al. 2011(b)
|
QIBS
|
I.10
|
BBS10
|
c.271_272insT/c.1091delA
|
p.Cys91Leufs*5/p.Asn364Thrfs*5
|
cLOF/cLOF
|
|
F
|
|
|
1
|
0
|
1
|
|
1
|
1
|
|
|
|
French
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Schaefer et al. 2011(b)
|
ESHT
|
II.6
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
French
|
|
Ullah et al. 2017
|
AFA6
|
D V-1
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
Ullah et al. 2017
|
AFA6
|
D V-2
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
|
M
|
10-19
|
14
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
Lindstrand et al. 2014
|
O9YO
|
DM012-003
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
1
|
N. European
|
|
Sathya Priya et al. 2015
|
UGBG
|
BBS-H
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Indian
|
|
Janssen et al. 2011
|
ODT5
|
F1 (A2891) -4
|
BBS10
|
c.271_272insT/c.391delC
|
p.Cys91fs*5/p.Gln131fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
ODT5
|
F1 (A2891)-5
|
BBS10
|
c.271_272insT/c.391delC
|
p.Cys91fs*5/p.Gln131fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
M170
|
AR371 (A2850) -3
|
BBS10
|
c.271_272insT/c.899A>C
|
p.Cys91fs*5/p.His300Pro
|
cLOF/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
|
N. European
|
|
Sathya Priya et al. 2015
|
INPU
|
BBS-K
|
BBS3
|
c.272T>C/c.272T>C
|
p.Ile91Thr/p.Ile91Thr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Indian
|
|
Sathya Priya et al. 2015
|
PYKP
|
BBS-R
|
BBS3
|
c.272T>C/c.272T>C
|
p.Ile91Thr/p.Ile91Thr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
Sathya Priya et al. 2015
|
1U6N
|
BBS-T
|
BBS3
|
c.272T>C/c.272T>C
|
p.Ile91Thr/p.Ile91Thr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Indian
|
|
Leitch et al. 2008
|
7AAP
|
KK20-04
|
BBS9
|
c.2804G>A/c.2804G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
5
|
1
|
1
|
1
|
1
|
1
|
1
|
|
0
|
1
|
Saudi Arabian
|
|
Chaki et al. 2011
|
2XE6
|
F335-21
|
BBS14
|
c.2915T>C/c.2915T>C
|
p.Leu972Pro/p.Leu972Pro
|
MS/MS
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
WOAU
|
F-6-8
|
BBS6
|
c.295T>C/c.295T>C
|
p.Cys99Arg/p.Cys99Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|