|
Sathya Priya et al. 2015
|
INPU
|
BBS-K
|
BBS3
|
c.272T>C/c.272T>C
|
p.Ile91Thr/p.Ile91Thr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
PYKP
|
BBS-R
|
BBS3
|
c.272T>C/c.272T>C
|
p.Ile91Thr/p.Ile91Thr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
1U6N
|
BBS-T
|
BBS3
|
c.272T>C/c.272T>C
|
p.Ile91Thr/p.Ile91Thr
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
U9D6
|
BBS-A
|
BBS4
|
c.1077-?_1601+?/c.1077-?_1601+?
|
p.?/p.?
|
?/?
|
|
|
|
|
1
|
0
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
KIOI
|
BBS-E
|
BBS5
|
c.471G>A/c.471G>A
|
p.Arg138His/p.Arg138His
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
DT0L
|
BBS-B
|
BBS6
|
c.748G>A/c.748G>A
|
p.Gly250Arg/p.Gly250Arg
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
|
0
|
|
|
1
|
Indian
|
|
|
Sathya Priya et al. 2015
|
QRH7
|
BBS-D1
|
BBS6
|
c.1595G>T/c.1549C>T
|
p.Gly532Val/p.Arg517Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
1
|
Indian
|
|
|
Sathya Priya et al. 2015
|
EI85
|
BBS-X
|
BBS6
|
c.1595G>T/c.1549C>T
|
p.Gly532Val/p.Arg517Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
X7SU
|
BBS-L
|
BBS9
|
r.618_702del/r.618_702del
|
p.Tyr207Trpfs*4/p.Tyr207Trpfs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Indian
|
|
|
Sathya Priya et al. 2015
|
G5CL
|
BBS-V
|
BBS9
|
c.1195C>T/c.1195C>T
|
p.Gln399*/p.Gln399*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
|
1
|
|
|
1
|
Indian
|
|
|
Fattahi et al. 2014
|
KQKK
|
35201
|
BBS12
|
c.1156_1157CG>TA/c.1156_1157CG>TA
|
p.Arg386*/p.Arg386*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
GEMF
|
36000
|
BBS12
|
c.2019del/c.2019del
|
p.Trp673Cysfs*7/p.Trp673Cysfs*7
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
LJ5D
|
37709
|
BBS12
|
c.1156_1157CG>TA/c.1156_1157CG>TA
|
p.Arg386*/p.Arg386*
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
0
|
|
1
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
VO8X
|
34754
|
BBS2
|
c.1003C>T/c.1003C>T
|
p.Gln335*/p.Gln335*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
2X8V
|
34885
|
BBS2
|
c.471G>C/c.471G>C
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
Y3OD
|
38498
|
BBS2
|
c.256_278dup23/c.256_278dup23
|
p.Val94Serfs*8/p.Val94Serfs*8
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
1
|
|
1
|
|
|
1
|
Iranian
|
|
|
Fattahi et al. 2014
|
WJ64
|
38931
|
BBS2
|
c.1910+1G>T/c.1910+1G>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
65UG
|
34881
|
BBS4
|
c.829G>A/c.829G>A
|
p.Gly277Arg/p.Gly277Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
WNW3
|
40568
|
BBS4
|
c.77_220del/c.77_220del
|
p.Pro27_Ala74del/p.Pro27_Ala74del
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
O03G
|
40302
|
BBS7
|
c.1342_1346delCAGGC/c.1443T>A
|
p.Gln448Argfs*13/p.Cys481*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
1
|
1
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
4CJ1
|
34792
|
BBS9
|
c.1789+1G>A/c.1789+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
1
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
V7JY
|
41931
|
BBS9
|
c.263+1G>A/c.263+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Iranian
|
|
|
Ghadami et al. 2000
|
YCV0
|
III-10
|
BBS3
|
|
|
|
|
F
|
40+
|
62
|
1
|
1
|
0
|
|
0
|
0
|
|
|
|
Iranian
|
|
|
Ghadami et al. 2000
|
YCV0
|
III-5
|
BBS3
|
|
|
|
|
M
|
|
|
1
|
0
|
1
|
|
0
|
|
|
|
|
Iranian
|
|
|
Ghadami et al. 2000
|
YCV0
|
III-9
|
BBS3
|
|
|
|
|
M
|
|
|
1
|
1
|
0
|
|
|
|
|
|
|
Iranian
|
|