|
Castro-Sanchez et al. 2015
|
SFDV
|
B164 (463)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
44
|
1
|
1
|
1
|
0
|
0
|
0
|
1
|
1
|
1
|
Spanish
|
|
|
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
|
|
|
Castro-Sanchez et al. 2015
|
0ZFK
|
B260 (1476)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
46
|
1
|
0
|
1
|
0
|
1
|
0
|
0
|
|
1
|
Spanish
|
|
|
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
|
|
|
Hulleman et al. 2016
|
E4HN
|
ID SIO101
|
BBS6
|
c.1184A>G/c.1184A>G
|
p.His395Arg/p.His395Arg
|
MS/MS
|
|
M
|
10-19
|
18
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
|
0
|
India
|
|
|
Hulleman et al. 2016
|
E4HN
|
ID SIO102
|
BBS6
|
c.1184A>G/c.1184A>G
|
p.His395Arg/p.His395Arg
|
MS/MS
|
|
F
|
10-19
|
13
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
|
0
|
India
|
|
|
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
|
|
|
Castro-Sanchez et al. 2015
|
3KOY
|
GBB6 (110)
|
BBS1
|
|
p.Met390Arg/p.Leu288Arg
|
MS/MS
|
|
M
|
20-39
|
38
|
1
|
1
|
1
|
0
|
0
|
|
|
|
|
Spanish
|
|
|
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
|
|
|
Chaki et al. 2011
|
BG5M
|
A1713 -22
|
BBS14
|
c.5182G>T/c.6277del1
|
p.Glu1728*/p.Val2093fs*4
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
|
Chaki et al. 2011
|
BG5M
|
A1713-21
|
BBS14
|
c.5182G>T/c.6277del1
|
p.Glu1728*/p.Val2093fs*4
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
|
Castro-Sanchez et al. 2015
|
H8IH
|
M499-(4993)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
73
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Spanish
|
|
|
Chaki et al. 2011
|
S87U
|
A197-21
|
BBS14
|
c.3175_3176insA/c.7341_7342insA
|
p.Ile1059fs*11/p.Leu2448fs*8
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
|
Castro-Sanchez et al. 2015
|
H8IH
|
M499-(4994)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
57
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Spanish
|
|
|
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
|
|
|
Castro-Sanchez et al. 2015
|
DJ2Y
|
M622-(192)§
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
93
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
Spanish
|
|
|
Chaki et al. 2011
|
EYG6
|
A372-22
|
BBS14
|
c.3811C>T/c.5734del2
|
p.Arg1271*/p.Trp1912fs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
|
Castro-Sanchez et al. 2015
|
QGJM
|
M713-(336)‡
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
20-39
|
35
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
|
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
|
|
|
Castro-Sanchez et al. 2015
|
QGJM
|
M713-(337)‡
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
20-39
|
33
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
|
Chaki et al. 2011
|
HIJ9
|
F101-21
|
BBS14
|
c.5163del1/c.1066-1G>A
|
p.Thr1721fs*3/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
|
Chaki et al. 2011
|
51M2
|
F15-21
|
BBS14
|
c.5649_5650insA/c.5850del1
|
p.Leu1884fs*23/p.Phe1950fs*15
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
|
Castro-Sanchez et al. 2015
|
IRUP
|
RP1054 (249)§
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
20-39
|
29
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|