|
Azari et al. 2006
|
GBVH
|
P8¶
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
44
|
1
|
1
|
1
|
|
|
1
|
|
|
|
USA
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
ONMF
|
11/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
1
|
0
|
|
0
|
Italian
|
|
|
Ullah et al. 2017
|
8R4R
|
E IV-4
|
BBS6
|
c.119C>G/c.119C>G
|
p.Ser40*/p.Ser40*
|
cLOF/cLOF
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
|
Azari et al. 2006
|
IZFY
|
P9#
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
37
|
1
|
|
1
|
|
|
1
|
|
|
|
USA
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
9FZ4
|
12/F
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
|
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
0
|
French
|
|
|
Lim et al. 2014
|
NA
|
1
|
BBS10
|
c.1189A>G/c.1189A>G
|
p.Ile397Val/p.Ile397Val
|
MS/MS
|
|
|
|
|
0
|
1
|
0
|
0
|
|
0
|
|
|
|
European
|
|
|
Ullah et al. 2017
|
2AEI
|
A IV-3
|
BBS7
|
c.580_582delGCA/c.580_582delGCA
|
3bp del/3bp del
|
MS/MS
|
|
M
|
20-39
|
21
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
|
Badano et al. 2003
|
NKEI
|
AR768-03
|
BBS1
|
|
p.Met390Arg/frameshift - deletion in exon 16
|
MS/cLOF
|
|
F
|
0-9
|
9
|
1
|
0
|
|
0
|
1
|
|
|
|
|
Northern European
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
HQVO
|
13/F
|
BBS1
|
|
p.Met390Arg/p.Arg268Pro
|
MS/MS
|
|
F
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
0
|
Netherland
|
|
|
Lim et al. 2014
|
NA
|
2
|
BBS10
|
c.1189A>G/c.1189A>G
|
p.Ile397Val/p.Ile397Val
|
MS/MS
|
|
|
|
|
0
|
1
|
0
|
0
|
|
0
|
|
|
|
European
|
|
|
Ullah et al. 2017
|
2AEI
|
A IV-4
|
BBS7
|
c.580_582delGCA/c.580_582delGCA
|
3bp del/3bp del
|
MS/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
|
Badano et al. 2003
|
NKEI
|
AR768-04
|
BBS1
|
|
p.Met390Arg/frameshift - deletion in exon 16
|
MS/cLOF
|
[]
|
F
|
0-9
|
7
|
1
|
1
|
|
1
|
1
|
|
|
|
|
Northern European
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
5JXT
|
14/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
1
|
0
|
1
|
0
|
0
|
1
|
|
0
|
German
|
|
|
Lim et al. 2014
|
NA
|
3
|
BBS10
|
c.1189A>G/c.1189A>G
|
p.Ile397Val/p.Ile397Val
|
MS/MS
|
|
|
|
|
0
|
1
|
0
|
0
|
|
0
|
|
|
|
European
|
|
|
Ullah et al. 2017
|
2AEI
|
A IV-5
|
BBS7
|
c.580_582delGCA/c.580_582delGCA
|
3bp del/3bp del
|
MS/MS
|
|
M
|
10-19
|
12
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
|
Badano et al. 2003
|
V1PO
|
PB009-03
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
[]
|
F
|
20-39
|
32
|
1
|
1
|
|
1
|
|
|
|
|
|
Northern European
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
Q71J
|
2/M
|
BBS1
|
|
p.Met390Arg/p.Leu388Pro
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
|
0
|
French
|
|
|
Lindstrand et al. 2014
|
O9YO
|
DM012-003
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
1
|
N. European
|
|
|
Ullah et al. 2017
|
VYZR
|
B IV-2
|
BBS7
|
c.1592_1597delTTCCAG/c.1592_1597delTTCCAG
|
6bp del/6bp del
|
MS/MS
|
|
M
|
10-19
|
17
|
1
|
0
|
1
|
0
|
1
|
0
|
|
|
|
Pakistani
|
|
|
Badano et al. 2003
|
V1PO
|
PB009-04
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
[]
|
M
|
20-39
|
35
|
1
|
1
|
|
1
|
|
|
|
|
|
Northern European
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
3VCU
|
3/Fa
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
|
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
|
0
|
Italian
|
|
|
Lindstrand et al. 2014
|
XFT0
|
RC1-03
|
BBS10
|
c.926T>C/c.9_14delTTCTAT
|
p.Leu309Pro/p.Ser3_Met5delinsArg
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
1
|
Latino
|
|
|
Ullah et al. 2017
|
VYZR
|
B IV-4
|
BBS7
|
c.1592_1597delTTCCAG/c.1592_1597delTTCCAG
|
6bp del/6bp del
|
MS/MS
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
|
Badano et al. 2003
|
V1PO
|
PB009-05
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
37
|
1
|
1
|
|
0
|
|
|
|
|
|
Northern European
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
XZ97
|
4/M
|
BBS1
|
|
p.Met390Arg/p.Cys377Trpfs*36
|
MS/cLOF
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
1
|
0
|
|
0
|
Netherland
|
|