Ghadami et al. 2000
|
YCV0
|
IV-10
|
BBS3
|
|
|
|
|
F
|
20-39
|
32
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
Ghadami et al. 2000
|
YCV0
|
IV-11
|
BBS3
|
|
|
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
Ghadami et al. 2000
|
YCV0
|
IV-14
|
BBS3
|
|
|
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
Ghadami et al. 2000
|
YCV0
|
IV-9
|
BBS3
|
|
|
|
|
F
|
20-39
|
33
|
1
|
1
|
1
|
0
|
0
|
1
|
|
|
|
Iranian
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:2
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
|
F
|
|
|
1
|
0
|
1
|
1
|
0
|
0
|
0
|
|
0
|
Spanish
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:4
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
[]
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
0
|
Spanish
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:5
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
0
|
Spanish
|
|
Harville et al. 2010
|
C4K2
|
A2014-II1
|
BBS1
|
c.IVS1-1G>A/c.IVS1-1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
|
1
|
1
|
|
|
|
Turkish
|
|
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
|
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
|
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
|
2RC7
|
A2880-II2
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
|
1
|
1
|
|
0
|
|
|
|
|
Europe
|
|
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
|
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
|
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
|
WRRU
|
A2003-II1
|
BBS12
|
c.1589T>C/c.1589T>C
|
p.Leu530Pro/p.Leu530Pro
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
Harville et al. 2010
|
S9R9
|
A2015-II1
|
BBS12
|
c.1589T>C/c.1589T>C
|
p.Leu530Pro/p.Leu530Pro
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
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
|
|
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
|
|
Harville et al. 2010
|
JVOM
|
A2008-II1
|
BBS4
|
c.IVS3-2A>G/c.IVS3-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
USA
|
|
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
|
H5B5
|
A2002-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
Pakistani
|
|
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
|
S37F
|
A2004-II2
|
BBS7
|
c.711_714delGAGA/c.711_714delGAGA
|
p.Arg238fs*59/p.Arg238fs*59
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|