Riazuddin et al. 2010
|
G8FZ
|
V:5
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
Hjortshoj et al. 2009
|
Z6Q4
|
FO-04
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
30
|
1
|
1
|
0
|
1
|
|
|
|
|
|
Faroe Islands
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:7
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
21
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
Hjortshoj et al. 2009
|
GHP7
|
FO-05
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
Faroe Islands
|
|
Riise et al. 2002
|
PTMJ
|
VIII-1
|
BBS4
|
A>C in exon 7 splice acceptor position −2/A>C in exon 7 splice acceptor position −2
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
20
|
1
|
1
|
0
|
1
|
|
0
|
|
|
|
Scandinavian
|
[]
|
Bujakowska et al. 2015
|
ARFT
|
Family 1, II.2
|
BBS20
|
c.1525-1G>A/c.4701C>A
|
splice/p.His1567Gln
|
cLOF/MS
|
|
|
20-39
|
22
|
1
|
1
|
0
|
|
|
0
|
|
1
|
|
White European
|
|
Bujakowska et al. 2015
|
L077
|
Family 2, II.1
|
BBS20
|
c.4815T>G/c.4815T>G
|
p.Asp1605Glu/p.Asp1605Glu
|
MS/MS
|
|
|
20-39
|
33
|
1
|
0
|
0
|
|
|
0
|
|
|
|
White European
|
|
Castro-Sanchez et al. 2015
|
M6S4
|
GBB27 (I)‡
|
BBS1
|
|
p.Met390Arg/p.His504fs*48
|
MS/cLOF
|
|
M
|
10-19
|
17
|
1
|
1
|
0
|
1
|
0
|
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
|
|
Castro-Sanchez et al. 2015
|
Y7RJ
|
M129-(1518)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
64
|
1
|
1
|
0
|
1
|
1
|
0
|
1
|
|
0
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
Y7RJ
|
M129-(1519)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
61
|
1
|
1
|
0
|
|
|
1
|
1
|
|
0
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
H8IH
|
M499-(4993)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
73
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Spanish
|
|
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
|
QRH7
|
BBS-D1
|
BBS6
|
c.1595G>T/c.1549C>T
|
p.Gly532Val/p.Arg517Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
1
|
Indian
|
|
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
|
QGJM
|
M713-(336)‡
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
20-39
|
35
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
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
|
|
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
|
|
Castro-Sanchez et al. 2015
|
U1ZZ
|
RP1378 (24)‡
|
BBS1
|
|
p.Met390Arg/p.Asp278fs*9
|
MS/cLOF
|
|
F
|
20-39
|
34
|
1
|
1
|
0
|
0
|
0
|
|
|
|
|
Spanish
|
|
Shaheen et al. 2016
|
HP63
|
F-47-84
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
6TP3
|
F-22-34
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Iannaccone et al. 2005
|
M1KN
|
pat1
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
28
|
1
|
1
|
0
|
0
|
1
|
|
|
|
0
|
Italian
|
|
Shaheen et al. 2016
|
6TP3
|
F-22-36
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Iannaccone et al. 2005
|
M1KN
|
pat3
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
0
|
0
|
1
|
1
|
|
|
0
|
Italian
|
|