Iannaccone et al. 2005
|
M1KN
|
pat1
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
28
|
1
|
1
|
0
|
0
|
1
|
|
|
|
0
|
Italian
|
|
Castro-Sanchez et al. 2015
|
9VM7
|
M250-(127)‡
|
BBS12
|
|
p.Phe372fs*1/p.Phe372fs*1
|
cLOF/cLOF
|
|
M
|
40+
|
53
|
1
|
1
|
1
|
0
|
1
|
|
0
|
|
0
|
Spanish
|
|
Iannaccone et al. 2005
|
M1KN
|
pat3
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
0
|
0
|
1
|
1
|
|
|
0
|
Italian
|
|
Innes et al. 2010
|
KVYU
|
P1
|
BBS2
|
c.472-2A>G/c.472-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
1
|
Hutterite
|
|
Castro-Sanchez et al. 2017
|
UY2P
|
Case 3
|
BBS2
|
c.1932T>A/c.1932T>A
|
p.Tyr644*/p.Tyr644*
|
cLOF/cLOF
|
|
M
|
0-9
|
6
|
1
|
1
|
1
|
0
|
0
|
|
|
|
|
Spanish
|
|
Cox et al. 2012
|
D2VE
|
PT2
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
Cox et al. 2012
|
PZDS
|
PT3
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
Davies et al. 2018
|
RJCD
|
BBS005
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
60+
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
|
|
White European
|
|
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
|
|
Shaheen et al. 2016
|
7GBT
|
F-15-22
|
BBS2
|
c.1015C>T/c.1015C>T
|
p.Arg339*/p.Arg339*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
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
|
NLII
|
F-18-25
|
BBS2
|
c.805_1910del/c.805_1910del
|
p.Val269Glufs*12/p.Val269Glufs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
YJGI
|
BBS010
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
M
|
40+
|
50-59
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Shaheen et al. 2016
|
NLII
|
F-18-26
|
BBS2
|
c.805_1910del/c.805_1910del
|
p.Val269Glufs*12/p.Val269Glufs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
YP1P
|
BBS011
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
M
|
40+
|
50-59
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White 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
|
|
Abu-Safieh et al. 2012
|
SZVM
|
BBS-F001-A
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
0EMR
|
BBS012
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
F
|
40+
|
50-59
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White 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
|
|
Abu-Safieh et al. 2012
|
SZVM
|
BBS-F001-B
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
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
|
|
Abu-Safieh et al. 2012
|
VXBV
|
BBS-F002-A
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
X08Z
|
BBS014
|
BBS1
|
|
p.Met390Arg/p.Gly73*
|
MS/cLOF
|
|
F
|
20-39
|
30-39
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
White European
|
|
Abu-Safieh et al. 2012
|
VXBV
|
BBS-F002-B
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
VXBV
|
BBS-F002-C
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|