|
Janssen et al. 2011
|
NZSY
|
A3436 0
|
BBS2
|
c.940delA/c.IVS6+2
|
p.Ile314fs*11/splice
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
|
|
1
|
|
|
|
Turkey
|
|
|
Janssen et al. 2011
|
OTUQ
|
A3185 0
|
BBS10
|
c.687delA/c.271_272insT
|
p.Pro229fs*8/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
USA
|
|
|
Laurier et al. 2006
|
00OK
|
A3
|
BBS10
|
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
F
|
40+
|
47
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Lebanese
|
|
|
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
|
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
|
OWHJ
|
A2885-II2 (AKK65)
|
BBS1
|
c.IVS2+1G>A/c.IVS2+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
1
|
Saudi Arabian
|
|
|
Harville et al. 2010
|
OWHJ
|
A2885-II1 (AKK65)
|
BBS1
|
c.IVS2+1G>A/c.IVS2+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Saudi Arabian
|
|
|
Harville et al. 2010
|
2RC7
|
A2880-II2
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
|
1
|
1
|
|
0
|
|
|
|
|
Europe
|
|
|
Harville et al. 2010
|
2RC7
|
A2880-II1
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
1
|
Europe
|
|
|
Harville et al. 2010
|
CCK1
|
A2876-II2 (AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Europe
|
|
|
Harville et al. 2010
|
CCK1
|
A2876-II1(AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
0
|
0
|
0
|
1
|
0
|
|
|
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
|
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
|
E9UF
|
A2827-II2 (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-II1(AR74)
|
BBS8
|
c.IVS10+2_4delTGC/c.IVS10+2_4delTGC
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
1
|
Pakistani
|
|
|
Janssen et al. 2011
|
VL78
|
A2296 0
|
BBS2
|
c.823C>T/c.823C>T
|
p.Arg275*/p.Arg275*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
1
|
|
|
1
|
1
|
|
|
USA
|
|
|
Chaki et al. 2011
|
ITBC
|
A2290-21
|
BBS16
|
c.1068+1G>A/c.1068+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1!
|
|
1
|
|
0
|
|
NA
|
|
|
Chaki et al. 2011
|
0Q4M
|
A2182-22
|
BBS14
|
c.2217+1G>T/c.2217+1G>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
|
Chaki et al. 2011
|
0Q4M
|
A2182-21
|
BBS14
|
c.2217+1G>T/c.2217+1G>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
|
Chaki et al. 2011
|
CUV8
|
A2029-21
|
BBS14
|
c.1189G>A/c.5668G>T
|
p.Gly397Ser/p.Gly1890*
|
MS/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
|
Harville et al. 2010
|
E9UF
|
A2027-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
1
|
|
1
|
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
|
|
|
Harville et al. 2010
|
ENNE
|
A2023-II1
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Turkish
|
|
|
Harville et al. 2010
|
2CSL
|
A2020-II1
|
BBS10
|
c.530A>G/c.530A>G
|
p.Tyr177Cys/p.Tyr177Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|
|
Harville et al. 2010
|
LVPF
|
A2017-II1
|
BBS12
|
c.1483_1484delGA/c.1483_1484delGA
|
p.Glu495fs*4/p.Glu495fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
Turkish
|
|