|
Harville et al. 2010
|
SRNJ
|
A2005-II1
|
BBS7
|
c.688T>C/c.688T>C
|
p.Trp320Arg/p.Trp320Arg
|
MS/MS
|
|
|
|
|
0
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Turkish
|
|
|
Harville et al. 2010
|
WDU9
|
A2875-II1
|
BBS7
|
c.188T>G/c.188T>G
|
p.Ile66Met/p.Ile66Met
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Europe
|
|
|
Harville et al. 2010
|
WDU9
|
A2875-II2
|
BBS7
|
c.188T>G/c.188T>G
|
p.Ile66Met/p.Ile66Met
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Europe
|
|
|
Harville et al. 2010
|
6FMK
|
A2889-II1 (A80533/4)
|
BBS7
|
c.1786G>A/c.1786G>A
|
p.Glu596Lys/p.Glu596Lys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
0
|
|
|
|
Israel Arab
|
|
|
Harville et al. 2010
|
6FMK
|
A2889-II2 (A80533/4)
|
BBS7
|
c.1786G>A/c.1786G>A
|
p.Glu596Lys/p.Glu596Lys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Israel Arab
|
|
|
Harville et al. 2010
|
LOEF
|
A2011-II1
|
BBS8
|
c.122G>A/c.122G>A
|
p.Trp41*/p.Trp41*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|
|
Harville et al. 2010
|
E9UF
|
A2827-II1(AR74)
|
BBS8
|
c.IVS10+2_4delTGC/c.IVS10+2_4delTGC
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
1
|
Pakistani
|
|
|
Harville et al. 2010
|
E9UF
|
A2827-II2 (AR74)
|
BBS8
|
c.IVS10+2_4delTGC/c.IVS10+2_4delTGC
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
1
|
Pakistani
|
|
|
Heon et al. 2016
|
XN45
|
|
BBS21
|
c.304A>T/c.304A>T
|
p.Lys102*/p.Lys102*
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
12
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
|
Caucasian
|
|
|
Hjortshoj et al. 2009
|
Q90P
|
FO-01
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
23
|
1
|
1
|
0
|
|
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
PT3J
|
FO-02
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
10-19
|
17
|
1
|
1
|
1
|
1
|
0
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
Z6Q4
|
FO-03
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
29
|
1
|
|
1
|
1
|
|
|
|
|
|
Faroe Islands
|
|
|
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
|
|
|
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
|
|
|
Hjortshoj et al. 2009
|
F6WQ
|
FO-06
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
20
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
XLU7
|
FO-07
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
0-9
|
4
|
1
|
1
|
1
|
|
0
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
JLFX
|
FO-08
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
24
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
4LAO
|
FO-09
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
24
|
1
|
1
|
1
|
1
|
0
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
H5EH
|
FO-10
|
BBS1
|
c.1091+3G>C/
|
splice/p.Met390Arg
|
cLOF/MS
|
|
M
|
20-39
|
31
|
1
|
0
|
1
|
0
|
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2010
|
MIU3
|
P14
|
BBS10
|
|
p.Cys91Trpfs*5/p.Cys91Trpfs*5
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
8
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Scandinavian
|
|
|
Hjortshoj et al. 2010
|
VNHI
|
P41
|
BBS10
|
|
p.Arg49Trp/p.Arg49Trp
|
MS/MS
|
[]
|
M
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
Scandinavian
|
|
|
Hjortshoj et al. 2010
|
58IU
|
P47
|
BBS10
|
|
p.Cys91Trpfs*5/p.Gln623*
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
9
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Scandinavian
|
|
|
Hjortshoj et al. 2010
|
W986
|
P1
|
BBS2
|
|
p.Phe221fs*25/p.Phe221fs*25
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
6
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Scandinavian
|
|
|
Hjortshoj et al. 2010
|
Y6V5
|
P16
|
BBS2
|
|
p.Phe221fs*25/p.Arg216*
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
5
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
|
Scandinavian
|
|
|
Hjortshoj et al. 2010
|
QC14
|
P42
|
BBS2
|
|
p.Arg216*/p.Tyr24*
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Scandinavian
|
|