Chaki et al. 2011
|
FMNC
|
A1188-21
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
TMOJ
|
F394-27
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
KYJJ
|
F700-24
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
KYJJ
|
F700-26
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
Y3MD
|
F944-31
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
Y3MD
|
F944-32
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
P78N
|
F-162 233
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
OPSI
|
F-179 254
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
|
|
|
1
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
M87Y
|
F-198 281
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
|
|
|
1
|
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
|
3MZE
|
F-2-2
|
BBS5
|
c.532G>A/c.532G>A
|
p.Gly178Arg/p.Gly178Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
|
|
|
|
|
|
1
|
Saudi Arabian
|
|
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
|
|
Deveault et al. 2011
|
81EN
|
71
|
BBS8
|
|
p.Gly162fs*4/p.Ile334fs*1
|
cLOF/cLOF
|
|
M
|
40+
|
44
|
1
|
1
|
1
|
1
|
1!
|
1
|
|
1
|
1
|
Mexican
|
[]
|
Abu-Safieh et al. 2012
|
Z3OQ
|
BBS-F015-A
|
BBS9
|
c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del
|
p.Gly148_Val234del/p.Gly148_Val234del
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
0
|
0
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
Z3OQ
|
BBS-F015-B
|
BBS9
|
c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del
|
p.Gly148_Val234del/p.Gly148_Val234del
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
Z3OQ
|
BBS-F015-C
|
BBS9
|
c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del
|
p.Gly148_Val234del/p.Gly148_Val234del
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
0
|
0
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Laurier et al. 2006
|
00OK
|
D4
|
BBS2
|
|
p.Gly139Val/p.Gly139Val
|
MS/MS
|
|
F
|
20-39
|
23
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Lebanese
|
|
Laurier et al. 2006
|
00OK
|
D5
|
BBS2
|
|
p.Gly139Val/p.Gly139Val
|
MS/MS
|
|
F
|
10-19
|
18
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Lebanese
|
|
Suzuki et al. 2016
|
DZJM
|
5
|
BBS14
|
c.214G>T/c.6012-12T>A
|
p.Glu72*/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
0
|
1
|
|
1
|
|
0
|
1
|
Japanese
|
|
Harville et al. 2010
|
6FMK
|
A2889-II1 (A80533/4)
|
BBS7
|
c.1786G>A/c.1786G>A
|
p.Glu596Lys/p.Glu596Lys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
0
|
|
|
|
Israel Arab
|
|
Harville et al. 2010
|
6FMK
|
A2889-II2 (A80533/4)
|
BBS7
|
c.1786G>A/c.1786G>A
|
p.Glu596Lys/p.Glu596Lys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Israel Arab
|
|
Lindstrand et al. 2016
|
GW00
|
AR888-03
|
BBS1
|
c.1645G>T/deletion of exons 1-11
|
p.Glu549*/deletion of exons 1-11
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
4
|
1
|
1
|
1
|
1
|
|
1
|
|
|
1
|
Latino
|
[]
|
Harville et al. 2010
|
LVPF
|
A2017-II1
|
BBS12
|
c.1483_1484delGA/c.1483_1484delGA
|
p.Glu495fs*4/p.Glu495fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
Turkish
|
|
Otto et al. 2010
|
IDME
|
SS23/A1365_21
|
BBS16
|
c.1420delG/c.1420delG
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
La Réunion
|
|
Otto et al. 2010
|
IDME
|
SS23/A1365_22
|
BBS16
|
c.1420delG/c.1420delG
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
La Réunion
|
|