M'hamdi et al. 2013
|
QJ44
|
BBS-F02-A
|
BBS2
|
c.345+5G>A/c.345+5G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
6
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
Billingsley et al. 2010
|
PXHX
|
65y
|
BBS10
|
|
p.Leu55Pro/p.Glu274Valfs*29
|
MS/cLOF
|
[]
|
M
|
20-39
|
27
|
1
|
1
|
1
|
1
|
1
|
0
|
|
0
|
1
|
South African Black
|
|
M'hamdi et al. 2013
|
FHWS
|
BBS-F07-A
|
BBS2
|
c.565C>T/c.565C>T
|
p.Arg189*/p.Arg189*
|
cLOF/cLOF
|
|
F
|
0-9
|
8
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
Billingsley et al. 2010
|
PXHX
|
66y
|
BBS10
|
|
p.Leu55Pro/p.Glu274Valfs*29
|
MS/cLOF
|
[]
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
1
|
0
|
|
1
|
1
|
South African Black
|
|
M'hamdi et al. 2013
|
5XR9
|
BBS-F03-A
|
BBS4
|
|
deletion of exons 4-6/deletion of exons 4-6
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
4,5
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Tunisian
|
|
Billingsley et al. 2010
|
6XEU
|
79z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
|
F
|
10-19
|
18
|
1
|
|
1
|
0
|
0
|
0
|
|
|
|
British
|
|
M'hamdi et al. 2013
|
U5TO
|
BBS-F13-A
|
BBS5
|
c.149T>G/c.149T>G
|
p.Leu50Arg/p.Leu50Arg
|
MS/MS
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
Billingsley et al. 2010
|
6XEU
|
80z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
British
|
|
M'hamdi et al. 2013
|
BK29
|
BBS-F10-A
|
BBS6
|
c.1272+1G>A/c.1272+1G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
Ghadami et al. 2000
|
YCV0
|
III-10
|
BBS3
|
|
|
|
|
F
|
40+
|
62
|
1
|
1
|
0
|
|
0
|
0
|
|
|
|
Iranian
|
|
Billingsley et al. 2010
|
F7X3
|
2x
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
|
M
|
20-39
|
24
|
1
|
0
|
1
|
0
|
0
|
0
|
|
1
|
1
|
Egyptian
|
|
Ghadami et al. 2000
|
YCV0
|
IV-10
|
BBS3
|
|
|
|
|
F
|
20-39
|
32
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
Billingsley et al. 2010
|
F7X3
|
3x
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
|
M
|
20-39
|
22
|
1
|
1
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Egyptian
|
|
Ghadami et al. 2000
|
YCV0
|
IV-11
|
BBS3
|
|
|
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
Ghadami et al. 2000
|
YCV0
|
IV-14
|
BBS3
|
|
|
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
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:5
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
0
|
Spanish
|
|
Pawlik et al. 2010
|
RNS3
|
IV-2
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
20-39
|
30
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
Branfield Day et al. 2015
|
NA
|
7
|
BBS10
|
|
|
|
|
F
|
10-19
|
16
|
|
1
|
|
|
|
0
|
|
0
|
|
NA
|
|
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
|
|
Pawlik et al. 2010
|
RNS3
|
IV-3
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
20-39
|
27
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
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
|
|
Pawlik et al. 2010
|
RNS3
|
IV-9
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
10-19
|
19
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
Harville et al. 2010
|
2CSL
|
A2020-II1
|
BBS10
|
c.530A>G/c.530A>G
|
p.Tyr177Cys/p.Tyr177Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|
Branfield Day et al. 2015
|
NA
|
10
|
BBS4
|
|
|
|
|
M
|
10-19
|
15,6
|
|
1
|
|
|
|
0
|
|
0
|
|
Iraqi
|
|