Castro-Sanchez et al. 2015
|
H8IH
|
M499-(4993)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
73
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Spanish
|
|
Sathya Priya et al. 2015
|
U9D6
|
BBS-A
|
BBS4
|
c.1077-?_1601+?/c.1077-?_1601+?
|
p.?/p.?
|
?/?
|
|
|
|
|
1
|
0
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
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
|
|
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
|
|
Castro-Sanchez et al. 2015
|
DJ2Y
|
M622-(708)§
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
73
|
1
|
|
1
|
1
|
0
|
|
|
|
|
Spanish
|
|
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
|
|
Castro-Sanchez et al. 2015
|
WICN
|
M63 (1078)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
[]
|
M
|
40+
|
41
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
Spanish
|
|
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
|
|
Castro-Sanchez et al. 2015
|
WICN
|
M63 (1081)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
38
|
1
|
1
|
0
|
1
|
1
|
0
|
0
|
|
1
|
Spanish
|
|
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
|
|
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
|
|
Shaheen et al. 2016
|
DNA0
|
F-14-20
|
BBS1
|
c.831-3C>G/c.1285C>T
|
p.Arg429*/p.Arg429*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
YWEP
|
M732-(804)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
51
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Spanish
|
|
Shaheen et al. 2016
|
ANYX
|
F-17-24
|
BBS1
|
c.1424dupT/c.1424dupT
|
p.Ser476Glufs*25/p.Ser476Glufs*25
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
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
|
|
Shaheen et al. 2016
|
YTIO
|
F-23-37
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
VS17
|
RP1193 (747)
|
BBS1
|
|
p.Met390Arg/p.Arg146*
|
MS/cLOF
|
|
M
|
20-39
|
34
|
1
|
1
|
0
|
1
|
0
|
|
|
|
|
Spanish
|
|
Shaheen et al. 2016
|
YTIO
|
F-23-38
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
CXPA
|
RP1322 (1168)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
47
|
1
|
0
|
1
|
1
|
|
0
|
1
|
|
|
Spanish
|
|
Shaheen et al. 2016
|
HP63
|
F-47-81
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
CXPA
|
RP1322 (1169)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
43
|
1
|
0
|
1
|
1
|
|
0
|
1
|
|
|
Spanish
|
|