Deveault et al. 2011
|
ERE3
|
68
|
BBS10
|
|
p.Lys243Ilefs*15/p.Lys243Ilefs*15
|
cLOF/cLOF
|
|
M
|
10-19
|
13
|
1
|
1
|
1
|
1
|
1!
|
0
|
|
0
|
1
|
South African Black
|
|
Deveault et al. 2011
|
HX4N
|
70
|
BBS10
|
|
p.Lys243Ilefs*15/p.Lys243Ilefs*15
|
cLOF/cLOF
|
|
M
|
10-19
|
17
|
1
|
1
|
1
|
1
|
1!
|
1
|
|
1
|
1
|
South African Black/European/Asian
|
|
Deveault et al. 2011
|
FKM6
|
138
|
BBS10
|
c.197+1G>T/
|
splice/p.Leu600Ser
|
cLOF/MS
|
|
M
|
10-19
|
14
|
1
|
0
|
1
|
0
|
|
0
|
|
|
1
|
Mexican/Norwegian/Danish
|
|
Deveault et al. 2011
|
GZYP
|
128
|
BBS12
|
|
p.Arg355Gln/p.Arg355Gln
|
MS/MS
|
|
M
|
10-19
|
10
|
|
0
|
0
|
1
|
1
|
|
|
|
1
|
Denea
|
|
Deveault et al. 2011
|
NF8Q
|
56
|
BBS12
|
|
p.Asp480Metfs*3/p.Asp480Metfs*3
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
1
|
|
|
|
Pakistani
|
|
Deveault et al. 2011
|
TGKV
|
52
|
BBS12
|
|
p.Ser35*/p.Ser35*
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
19
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
Mexican
|
|
Deveault et al. 2011
|
RRKI
|
127
|
BBS12
|
|
p.Ser578*/p.Ser578*
|
cLOF/cLOF
|
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
El-Salvadorian
|
|
Kerr et al. 2015
|
IULP
|
5
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
13
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Canadian
|
|
Deveault et al. 2011
|
75UO
|
15
|
BBS2
|
|
p.Leu125Arg/p.Leu125Arg
|
MS/MS
|
[]
|
M
|
10-19
|
17
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
1
|
Denea
|
|
Kerr et al. 2015
|
XOZA
|
12
|
BBS10
|
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
|
F
|
10-19
|
10
|
1
|
1
|
1
|
0
|
|
0
|
|
0
|
|
Canadian
|
|
Kerr et al. 2015
|
G3C7
|
7b
|
BBS10
|
|
p.Cys91Leufs*5/p.Tyr469*
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
|
|
|
1
|
French/Canadian
|
[]
|
Kerr et al. 2015
|
G3C7
|
8b
|
BBS10
|
|
p.Cys91Leufs*5/p.Tyr469*
|
cLOF/cLOF
|
|
F
|
10-19
|
13
|
1
|
1
|
1
|
1
|
1
|
1!
|
|
0
|
1
|
French/Canadian
|
[]
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-07
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
11
|
1
|
1
|
0
|
1
|
|
1
|
|
|
1
|
USA
|
[]
|
Kerr et al. 2015
|
G3C7
|
9b
|
BBS10
|
|
p.Cys91Leufs*5/p.Tyr469*
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
0
|
1
|
French/Canadian
|
[]
|
Kerr et al. 2015
|
OVPA
|
10c
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
1
|
German/Italian
|
[]
|
Deveault et al. 2011
|
NZLP
|
142
|
BBS2
|
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Lebanese
|
|
Schaefer et al. 2011(a)
|
DRXS
|
I.2.23
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
14
|
1
|
1
|
0
|
|
|
1
|
|
|
1
|
French
|
|
Deveault et al. 2011
|
O815
|
81
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
|
F
|
10-19
|
17
|
1
|
1
|
1
|
0
|
0
|
1
|
1
|
|
0
|
NA
|
|
Kerr et al. 2015
|
KLK2
|
22
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
0
|
1
|
|
|
|
|
|
Canadian
|
|
Kerr et al. 2015
|
Q5T5
|
21
|
BBS21
|
|
p.Lys102*/p.Lys102*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Canadian
|
|
Schaefer et al. 2011(a)
|
KHCD
|
II.22.21
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
0
|
|
1
|
1
|
|
|
1
|
French
|
|
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
|
14d
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
1!
|
1
|
Iraqi
|
[]
|
Schaefer et al. 2011(a)
|
KHCD
|
II.22.22
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
0
|
|
1
|
1
|
|
|
1
|
French
|
|
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
|
[]
|