Billingsley et al. 2010
|
6XEU
|
80z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
British
|
|
Billingsley et al. 2010
|
3PNW
|
56{
|
BBS12
|
|
p.Asp480Metfs*3/p.Asp480Metfs*3
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
1
|
|
0
|
|
Pakistani
|
|
Rahner et al. 2016
|
TUBA
|
II.3
|
BBS21
|
c.155+2T>C/c.155+2T>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
|
|
0
|
0
|
|
|
Moroccan
|
|
Bujakowska et al. 2015
|
ARFT
|
Family 1, II.1
|
BBS20
|
c.1525-1G>A/c.4701C>A
|
splice/p.His1567Gln
|
cLOF/MS
|
|
|
10-19
|
15
|
1
|
1
|
1
|
|
|
0
|
|
1
|
|
White European
|
|
Castro-Sanchez et al. 2015
|
CK6O
|
RP1032 (32)¶
|
BBS10
|
|
p.Gln284*/p.Gln284*
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
|
|
|
|
|
|
Spanish
|
|
Cox et al. 2012
|
D2VE
|
PT2
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
Cox et al. 2012
|
PZDS
|
PT3
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
Branfield Day et al. 2015
|
NA
|
8
|
BBS4
|
|
|
|
|
F
|
10-19
|
15,1
|
|
1
|
|
|
|
1
|
|
0
|
|
French
|
|
Branfield Day et al. 2015
|
NA
|
1
|
BBS10
|
|
|
|
|
F
|
10-19
|
15,2
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Branfield Day et al. 2015
|
NA
|
6
|
BBS8
|
|
|
|
|
F
|
10-19
|
15,4
|
|
1
|
|
|
|
0
|
|
1
|
|
NA
|
|
Branfield Day et al. 2015
|
NA
|
10
|
BBS4
|
|
|
|
|
M
|
10-19
|
15,6
|
|
1
|
|
|
|
0
|
|
0
|
|
Iraqi
|
|
Kerr et al. 2015
|
Q5T5
|
21
|
BBS21
|
|
p.Lys102*/p.Lys102*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Canadian
|
|
Deveault et al. 2011
|
UAMN
|
50
|
BBS5
|
|
p.Gly72Ser/p.Gly72Ser
|
MS/MS
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1!
|
1
|
0
|
|
1
|
1
|
Somalian
|
[]
|
Kerr et al. 2015
|
8WRO
|
15d
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
1
|
Iraqi
|
[]
|
Ece Solmaz et al. 2015
|
DWMJ
|
3
|
BBS1
|
c.851delA/c.851delA
|
p.Tyr284Serfs*5/p.Tyr284Serfs*5
|
cLOF/cLOF
|
|
|
10-19
|
16
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
1
|
Turkish
|
|
Ece Solmaz et al. 2015
|
WBR2
|
1
|
BBS10
|
c.931T>G/c.931T>G
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
|
10-19
|
16
|
1
|
0
|
1
|
1
|
1
|
0
|
1
|
0
|
1
|
Turkish
|
|
Khan et al. 2013
|
38GY
|
A V-3
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
0
|
0
|
|
0
|
|
|
Pakistani
|
|
Azari et al. 2006
|
H27Y
|
P1
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
16
|
0
|
|
1
|
1
|
|
1
|
1
|
|
|
USA
|
|
Azari et al. 2006
|
PUF2
|
P2
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
|
|
|
|
USA
|
|
Ullah et al. 2017
|
VYZR
|
B IV-4
|
BBS7
|
c.1592_1597delTTCCAG/c.1592_1597delTTCCAG
|
6bp del/6bp del
|
MS/MS
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
Bennouna-Greene et al. 2011
|
OURF
|
04.02.02
|
BBS10
|
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Gerth et al. 2008
|
BBNF
|
2301
|
BBS1
|
|
p.Asp8Asp (splice)/p.Arg483*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
1
|
1
|
Canada
|
|
Billingsley et al. 2010
|
CE16
|
55*
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
0
|
0
|
1
|
|
0
|
1
|
German/Italian
|
|
Gerth et al. 2008
|
IT83
|
2294
|
BBS10
|
|
p.Cys91fs*5/p.Arg103fs*8
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
Billingsley et al. 2010
|
YAGJ
|
128**
|
BBS12
|
|
p.Arg355Gln/p.Arg355Gln
|
MS/MS
|
|
M
|
10-19
|
16
|
|
|
|
1
|
1
|
|
|
0
|
1
|
Canadian Native Indian
|
|