Chaki et al. 2011
|
G914
|
F4-22
|
BBS14
|
c.2218-4_2222del10/c.2218-4_2222del10
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
C8Q4
|
F57-21
|
BBS14
|
c.1A>G/c.1419_1423del5
|
start codon defect/p.Lys473fs*6
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
3DQF
|
F63-21
|
BBS14
|
c.4656del1/c.5668G>T
|
p.Lys1552fs*5/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
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
|
P927
|
F89-21
|
BBS14
|
c.5515_5518del4/c.5649_5650insA
|
p.Glu1843fs*7/p.Leu1883fs*24
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
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
|
|
Chaki et al. 2011
|
WB7H
|
A1365-21
|
BBS16
|
c.1420del1/c.1420del1
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
WB7H
|
A1365-22
|
BBS16
|
c.1420del2/c.1420del2
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
ITBC
|
A2290-21
|
BBS16
|
c.1068+1G>A/c.1068+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1!
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
E02N
|
AR37-25
|
BBS16
|
c.696T>G/c.740+1del1
|
p.Tyr232* /splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
0
|
1
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
E02N
|
AR37-27
|
BBS16
|
c.696T>G/c.740+1del2
|
p.Tyr232* /splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
H8CI
|
F1054-21
|
BBS16
|
c.1796T>G/c.1796T>G
|
p.Leu599* /p.Leu599*
|
cLOF/cLOF
|
|
F
|
|
|
0
|
|
|
0
|
1
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
H8CI
|
F1054-22
|
BBS16
|
c.1796T>G/c.1796T>G
|
p.Leu599* /p.Leu599*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
BHW5
|
F159-21
|
BBS16
|
c.421-?_740+?del/c.421-?_740+?del
|
p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
BHW5
|
F159-22
|
BBS16
|
c.421-?_740+?del/c.421-?_740+?del
|
p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
5NJD
|
F195-21
|
BBS16
|
c.1946_1949del4/c.1946_1949del4
|
p.Cys649fs*10/p.Cys649fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
X52J
|
F336-21
|
BBS16
|
c.1339_340insG/c.1339_340insG
|
p.Glu447fs*17/p.Glu447fs*17
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
X52J
|
F336-22
|
BBS16
|
c.1339_340insG/c.1339_340insG
|
p.Glu447fs*17/p.Glu447fs*17
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
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
|
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
|
|
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
|
RZU9
|
F523 0
|
BBS10
|
c.539G>A/c.539G>A
|
p.Gly180Glu/p.Gly180Glu
|
MS/MS
|
|
|
|
|
|
|
|
|
|
1
|
|
|
|
N. European
|
|