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
|
|
Castro-Sanchez et al. 2015
|
YWEP
|
M732-(804)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
51
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Spanish
|
|
Chaki et al. 2011
|
2XE6
|
F335-21
|
BBS14
|
c.2915T>C/c.2915T>C
|
p.Leu972Pro/p.Leu972Pro
|
MS/MS
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
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
|
|
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
|
|
Castro-Sanchez et al. 2015
|
40IX
|
RP1568 (502)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
54
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
40IX
|
RP1568 (504)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
50
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
RCBI
|
RP1731 (I)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
19
|
1
|
1
|
1
|
0
|
|
0
|
0
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
ZA2M
|
RP916 (1072)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
57
|
1
|
1
|
1
|
0
|
|
0
|
1
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
ZA2M
|
RP916 (1339)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
32
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Spanish
|
|
Shaheen et al. 2016
|
UY8C
|
F-20-29
|
BBS10
|
c.924G>T/c.924G>T
|
p.Leu308Phe/p.Leu308Phe
|
MS/MS
|
|
|
|
|
1
|
1
|
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
UY8C
|
F-20-30
|
BBS10
|
c.924G>T/c.924G>T
|
p.Leu308Phe/p.Leu308Phe
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
HDIC
|
F-36-60
|
BBS10
|
c.931T>G/c.931T>G
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
1
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
DVJA
|
F-79-141
|
BBS10
|
c.924G>T/c.924G>T
|
p.Leu308Phe/p.Leu308Phe
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
IJVR
|
GBB36 (I)
|
BBS10
|
|
p.Val331Ala/p.Val331Ala
|
MS/MS
|
|
M
|
40+
|
45
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
0
|
Spanish
|
|
Shaheen et al. 2016
|
N49S
|
F-21-31
|
BBS12
|
c.2041_2049del/c.2041_2049del
|
p.Leu682_Leu684del/p.Leu682_Leu684del
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
N49S
|
F-21-32
|
BBS12
|
c.2041_2049del/c.2041_2049del
|
p.Leu682_Leu684del/p.Leu682_Leu684del
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
B2KB
|
GBB35 (I)§
|
BBS12
|
|
p.Gly539Asp/p.Gly539Asp
|
MS/MS
|
|
F
|
40+
|
49
|
1
|
1
|
1
|
1
|
0
|
1
|
1
|
1
|
1
|
Spanish
|
|
Shaheen et al. 2016
|
TFZC
|
F-9-14
|
BBS12
|
c.2041_2049del/c.2041_2049del
|
p.Leu682_Leu684del/p.Leu682_Leu684del
|
MS/MS
|
|
|
|
|
1
|
|
1
|
|
|
1
|
|
|
|
Saudi Arabian
|
|