|
Khan et al. 2013
|
38GY
|
A V-4
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
M
|
10-19
|
12
|
1
|
0
|
1
|
0
|
0
|
|
0
|
|
|
Pakistani
|
|
|
Scheidecker et al. 2015
|
8ODK
|
Case7
|
BBS6
|
|
p.Met1Ile/p.Tyr37Cys
|
MS/MS
|
|
M
|
20-39
|
36
|
1
|
1
|
1
|
0
|
0
|
1
|
|
|
|
French
|
|
|
Ece Solmaz et al. 2015
|
COR8
|
13
|
BBS9
|
c.102_112+2delAAATGGACAAGGT/c.102_112+2delAAATGGACAAGGT
|
p.Asn35*/p.Asn35*
|
cLOF/cLOF
|
|
|
0-9
|
0,6
|
0
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Turkish
|
|
|
Laurier et al. 2006
|
00OK
|
E1
|
BBS10
|
|
p.Ser311Ala/p.Val11Gly
|
MS/MS
|
|
M
|
40+
|
70
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Lebanese
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
EOHE
|
1/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
|
0
|
Netherland
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
53FP
|
10/Fc
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
|
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
0
|
French
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Badano et al. 2003
|
8BCA
|
PB061-03
|
BBS2
|
|
p.Arg275*/p.Arg275*
|
cLOF/cLOF
|
|
F
|
20-39
|
20
|
|
0
|
|
0
|
|
|
|
|
0
|
Northern European
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
AR9W
|
5/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
0
|
Canadian
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
1NLX
|
6/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
0
|
French
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
1NLX
|
7/W
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
|
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
0
|
Italian
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
4YDB
|
8/Mb
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
|
0
|
Belgian
|
|
|
van Huet et al. 2013
|
VXOY
|
A-IV:1
|
BBS21
|
c.497T>A/c.497T>A
|
p.Leu166*/p.Leu166*
|
cLOF/cLOF
|
|
M
|
20-39
|
37
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
|
van Huet et al. 2013
|
KOTG
|
B-V:1
|
BBS21
|
c.156-2A>G/c.156-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
F
|
40+
|
41
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
|
NA
|
|
|
van Huet et al. 2013
|
KOTG
|
B-V:7
|
BBS21
|
c.156-2A>G/c.156-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
26
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
|
NA
|
|