Maria et al. 2016
|
M2A5
|
F05 V:2
|
BBS12
|
c.2014G>A/c.2014G>A
|
p.Ala672Thr/p.Ala672Thr
|
MS/MS
|
|
M
|
20-39
|
20
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
Maria et al. 2016
|
M2A5
|
F05 V:4
|
BBS12
|
c.2014G>A/c.2014G>A
|
p.Ala672Thr/p.Ala672Thr
|
MS/MS
|
|
F
|
20-39
|
25
|
1
|
1
|
0
|
|
1
|
0
|
|
|
|
Pakistani
|
|
Maria et al. 2016
|
AOD6
|
F01 IV:2
|
BBS3
|
c.534A>G/c.534A>G
|
p.Gln178Gln (splice)/p.Gln178Gln (splice)
|
cLOF/cLOF
|
|
M
|
20-39
|
32
|
1
|
|
1
|
0
|
1
|
1
|
|
|
|
Pakistani
|
|
Maria et al. 2016
|
AOD6
|
F01 IV:3
|
BBS3
|
c.534A>G/c.534A>G
|
p.Gln178Gln (splice)/p.Gln178Gln (splice)
|
cLOF/cLOF
|
|
M
|
40+
|
40
|
1
|
|
1
|
0
|
1
|
0
|
|
1
|
|
Pakistani
|
|
Maria et al. 2016
|
B9HM
|
F02 IV:2
|
BBS5
|
c.734_744del/c.734_744del
|
p.Glu245Glyfs*18/p.Glu245Glyfs*18
|
cLOF/cLOF
|
|
M
|
40+
|
45
|
1
|
0
|
0
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
Maria et al. 2016
|
B9HM
|
F02 IV:I
|
BBS5
|
c.734_744del/c.734_744del
|
p.Glu245Glyfs*18/p.Glu245Glyfs*18
|
cLOF/cLOF
|
|
M
|
40+
|
47
|
1
|
0
|
1
|
1
|
1
|
1
|
|
1
|
|
Pakistani
|
|
Maria et al. 2016
|
MOAU
|
F03 IV:2
|
BBS5
|
c.734_744del/c.734_744del
|
p.Glu245Glyfs*18/p.Glu245Glyfs*18
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Pakistani
|
|
Maria et al. 2016
|
AHHU
|
F04 IV:2
|
BBS9
|
c.1789C>T/c.1789C>T
|
p.Gln597*/p.Gln597*
|
cLOF/cLOF
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
|
Pakistani
|
|
Billingsley et al. 2010
|
3PNW
|
24{
|
BBS12
|
|
p.Asp480Metfs*3/p.Asp480Metfs*3
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
6
|
1
|
0
|
1
|
|
1
|
1
|
|
0
|
1
|
Pakistani
|
|
Billingsley et al. 2010
|
3PNW
|
56{
|
BBS12
|
|
p.Asp480Metfs*3/p.Asp480Metfs*3
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
1
|
|
0
|
|
Pakistani
|
|
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
|
|
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
|
|
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
|
WRRU
|
A2003-II1
|
BBS12
|
c.1589T>C/c.1589T>C
|
p.Leu530Pro/p.Leu530Pro
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
S9R9
|
A2015-II1
|
BBS12
|
c.1589T>C/c.1589T>C
|
p.Leu530Pro/p.Leu530Pro
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
G0X5
|
A2012-II1
|
BBS2
|
c.1237C>T/c.1237C>T
|
p.Arg413*/p.Arg413*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
Pakistani
|
|
Branfield Day et al. 2015
|
NA
|
5
|
BBS8
|
|
|
|
|
F
|
10-19
|
14,6
|
|
1
|
|
|
|
0
|
|
0
|
|
Pakistani
|
|
Harville et al. 2010
|
H5B5
|
A2002-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
E9UF
|
A2027-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
1
|
|
1
|
0
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
E9UF
|
A2827-II1(AR74)
|
BBS8
|
c.IVS10+2_4delTGC/c.IVS10+2_4delTGC
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
1
|
Pakistani
|
|
Harville et al. 2010
|
E9UF
|
A2827-II2 (AR74)
|
BBS8
|
c.IVS10+2_4delTGC/c.IVS10+2_4delTGC
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
1
|
Pakistani
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:1
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
29
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:10
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:5
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:7
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
21
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|