Bee et al. 2015
|
PTO2
|
II:2
|
BBS2
|
c.1864C>T/c.1932T>A
|
p.Arg622*/p.Tyr644*
|
cLOF/cLOF
|
|
F
|
20-39
|
37
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Malay
|
|
Fattahi et al. 2014
|
VO8X
|
34754
|
BBS2
|
c.1003C>T/c.1003C>T
|
p.Gln335*/p.Gln335*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Iranian
|
|
Fattahi et al. 2014
|
2X8V
|
34885
|
BBS2
|
c.471G>C/c.471G>C
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Iranian
|
|
Fattahi et al. 2014
|
Y3OD
|
38498
|
BBS2
|
c.256_278dup23/c.256_278dup23
|
p.Val94Serfs*8/p.Val94Serfs*8
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
1
|
|
1
|
|
|
1
|
Iranian
|
|
Fattahi et al. 2014
|
WJ64
|
38931
|
BBS2
|
c.1910+1G>T/c.1910+1G>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Iranian
|
|
Fedick et al. 2013
|
6RJ4
|
1
|
BBS2
|
c.311A>C/c.311A>C
|
p.Asp104Ala/p.Asp104Ala
|
MS/MS
|
|
M
|
|
|
1
|
|
1
|
|
|
|
|
|
|
Ashkenazi Jewish
|
|
Fedick et al. 2013
|
2S6X
|
2
|
BBS2
|
c.311A>C/c.311A>C
|
p.Asp104Ala/p.Asp104Ala
|
MS/MS
|
|
F
|
|
|
1
|
|
1
|
|
|
|
|
|
|
Ashkenazi Jewish
|
|
Fedick et al. 2013
|
PZIT
|
3
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
Fedick et al. 2013
|
PZIT
|
4
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
Bennouna-Greene et al. 2011
|
4HTC
|
01.05.07
|
BBS2
|
|
p.Pro134fs*67/p.Leu209fs*21
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
M'hamdi et al. 2013
|
QJ44
|
BBS-F02-A
|
BBS2
|
c.345+5G>A/c.345+5G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
6
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
M'hamdi et al. 2013
|
FHWS
|
BBS-F07-A
|
BBS2
|
c.565C>T/c.565C>T
|
p.Arg189*/p.Arg189*
|
cLOF/cLOF
|
|
F
|
0-9
|
8
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
Branfield Day et al. 2015
|
NA
|
9
|
BBS2
|
|
|
|
|
F
|
10-19
|
14,3
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Harville et al. 2010
|
G0X5
|
A2012-II1
|
BBS2
|
c.1237C>T/c.1237C>T
|
p.Arg413*/p.Arg413*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
J9M7
|
A2025-II1
|
BBS2
|
c.68G>C/c.68G>C
|
p.Arg23Pro/p.Arg23Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
|
Turkish
|
|
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
|
|
Hjortshoj et al. 2010
|
DFPM
|
P55
|
BBS2
|
|
p.Phe221fs*25/p.Gln569*
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
19
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Scandinavian
|
|
Hjortshoj et al. 2010
|
XKZA
|
P57
|
BBS2
|
|
p.Val94Serfs*8/p.Val94Serfs*8
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Scandinavian
|
|
Sathya Priya et al. 2015
|
PBI3
|
BBS-F
|
BBS2
|
c.376A>G/c.376A>G
|
p.Ile123Val/p.Ile123Val
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
Sathya Priya et al. 2015
|
9FSA
|
BBS-U
|
BBS2
|
c.376A>G/c.376A>G
|
p.Ile123Val/p.Ile123Val
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
1
|
Indian
|
|
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
|
|
Innes et al. 2010
|
KVYU
|
P1
|
BBS2
|
c.472-2A>G/c.472-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
1
|
Hutterite
|
|
Innes et al. 2010
|
BF8A
|
P2
|
BBS2
|
c.472-2A>G/c.472-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
0-9
|
0,5
|
|
|
1
|
|
1
|
|
1
|
|
|
Hutterite
|
|