|
Sathya Priya et al. 2015
|
ZPP2
|
BBS-G
|
BBS1
|
c.1340-2A>G/c.1340-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
HA2V
|
BBS-M
|
BBS1
|
c.1695G>A/c.1695G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
FXNB
|
BBS-C
|
BBS10
|
c.1660G>A/c.1660G>A
|
p.Gly401Glu/p.Gly401Glu
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
1
|
Indian
|
|
|
Sathya Priya et al. 2015
|
SREX
|
BBS-F1
|
BBS10
|
c.1227delA/c.1227delA
|
p.Gln409Hisfsˆ*22/p.Gln409Hisfsˆ*22
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
UGBG
|
BBS-H
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
AF1K
|
BBS-Q
|
BBS11
|
c.722A>G/c.722A>G
|
p.Tyr241Cys/p.Tyr241Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
MAED
|
BBS-J
|
BBS12
|
c.704C>G/c.704C>G
|
p.Pro108Arg/p.Pro108Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
0
|
|
0
|
|
|
1
|
Indian
|
|
|
Sathya Priya et al. 2015
|
YFO2
|
BBS-Z
|
BBS12
|
c.223delC/c.223delC
|
p.Gln75Leufs*37/p.Gln75Leufs*37
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
1
|
|
1
|
Indian
|
|
|
Sathya Priya et al. 2015
|
PBI3
|
BBS-F
|
BBS2
|
c.376A>G/c.376A>G
|
p.Ile123Val/p.Ile123Val
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
|
Sathya Priya et al. 2015
|
9FSA
|
BBS-U
|
BBS2
|
c.376A>G/c.376A>G
|
p.Ile123Val/p.Ile123Val
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
1
|
Indian
|
|
|
Sathya Priya et al. 2015
|
5AB3
|
BBS-Y
|
BBS2
|
c.209G>A/c.209G>A
|
p.Ser70Asn/p.Ser70Asn
|
MS/MS
|
|
|
|
|
1
|
1
|
0
|
0
|
|
1
|
|
|
1
|
Indian
|
|
|
Sathya Priya et al. 2015
|
8JNZ
|
BBS-D
|
BBS3
|
c.302G>T/c.302G>T
|
p.Arg101Ile/p.Arg101Ile
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Indian
|
|
|
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
|
|
|
Schaefer et al. 2011(a)
|
ILWY
|
1063
|
BBS16
|
c.1444delA/c.1627_1630delGATA
|
p.Thr482Serfs*11/p.Asp543Alafs*23
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
|
|
|
|
|
1
|
USA
|
|
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-02
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
0
|
|
|
1
|
|
|
0
|
USA
|
[]
|
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-05
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
22
|
1
|
1
|
0
|
|
1
|
1
|
|
|
0
|
USA
|
[]
|