|
Esposito et al. 2017
|
3JWE
|
P.4
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
70
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
|
Esposito et al. 2017
|
0HCQ
|
P.5
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
|
Harville et al. 2010
|
CCK1
|
A2876-II1(AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
0
|
0
|
0
|
1
|
0
|
|
|
1
|
Europe
|
|
|
Harville et al. 2010
|
CCK1
|
A2876-II2 (AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Europe
|
|
|
Harville et al. 2010
|
2RC7
|
A2880-II1
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
1
|
Europe
|
|
|
Harville et al. 2010
|
2RC7
|
A2880-II2
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
|
1
|
1
|
|
0
|
|
|
|
|
Europe
|
|
|
Fattahi et al. 2014
|
KQKK
|
35201
|
BBS12
|
c.1156_1157CG>TA/c.1156_1157CG>TA
|
p.Arg386*/p.Arg386*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
LJ5D
|
37709
|
BBS12
|
c.1156_1157CG>TA/c.1156_1157CG>TA
|
p.Arg386*/p.Arg386*
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
0
|
|
1
|
|
|
|
Iranian
|
|
|
Suzuki et al. 2016
|
UFCD
|
19
|
BBS1
|
c.1139G>A/c.1139G>A
|
p.Arg380Gln/p.Arg380Gln
|
MS/MS
|
|
|
|
|
1
|
|
0
|
1
|
|
0
|
|
0
|
1
|
Omani
|
|
|
Shaheen et al. 2016
|
0OE4
|
F-109 175
|
BBS13
|
c.1126dupA/c.1126dupA
|
p.Thr376Asnfs*3/p.Thr376Asnfs*3
|
cLOF/cLOF
|
|
|
|
|
|
|
1
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
|
Shaheen et al. 2016
|
A73A
|
F-92 156
|
BBS13
|
c.1126dupA/c.1126dupA
|
p.Thr376Asnfs*3/p.Thr376Asnfs*3
|
cLOF/cLOF
|
|
|
|
|
|
|
1
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
|
Schaefer et al. 2011(a)
|
ILMO
|
II.30
|
BBS16
|
c.1120C>T/c.1120C>T
|
p.Arg374*/p.Arg374*
|
cLOF/cLOF
|
|
F
|
0-9
|
6
|
1
|
1
|
0
|
|
|
1
|
|
|
1
|
French
|
|
|
M'hamdi et al. 2013
|
QUPE
|
BBS-F09-A
|
BBS1
|
c.1110G>A/c.1110G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
21
|
1
|
1
|
0
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
|
M'hamdi et al. 2013
|
QUPE
|
BBS-F09-B
|
BBS1
|
c.1110G>A/c.1110G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Tunisian
|
|
|
Abu-Safieh et al. 2012
|
N2IG
|
BBS-F006-A
|
BBS1
|
c.1110+329C>T/c.1110+329C>T
|
p.Gly318Valfs*36/p.Gly318Valfs*36
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
0
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Abu-Safieh et al. 2012
|
N2IG
|
BBS-F006-B
|
BBS1
|
c.1110+329C>T/c.1110+329C>T
|
p.Gly318Valfs*36/p.Gly318Valfs*36
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Schaefer et al. 2011(b)
|
JZRL
|
V.31
|
BBS6
|
c.110A>G/c.890T>C
|
p.Tyr37Cys/p.Ile297Thr
|
MS/MS
|
|
F
|
|
|
1
|
0
|
1
|
|
1
|
1
|
|
|
|
French
|
|
|
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
|
|
|
Shaheen et al. 2016
|
NVC9
|
F-5-7
|
BBS4
|
c.1091C>A/c.1091C>A
|
p.Ala364Glu/p.Ala364Glu
|
MS/MS
|
|
|
|
|
1
|
1
|
0
|
|
|
|
1
|
|
1
|
Saudi Arabian
|
|
|
Hjortshoj et al. 2009
|
Q90P
|
FO-01
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
23
|
1
|
1
|
0
|
|
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
PT3J
|
FO-02
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
10-19
|
17
|
1
|
1
|
1
|
1
|
0
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
Z6Q4
|
FO-03
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
29
|
1
|
|
1
|
1
|
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
Z6Q4
|
FO-04
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
30
|
1
|
1
|
0
|
1
|
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
GHP7
|
FO-05
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
F6WQ
|
FO-06
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
20
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Faroe Islands
|
|