|
Bennouna-Greene et al. 2011
|
XI3Q
|
1.16.25
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
38
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
K7Y0
|
1.4.c
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
17
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
L1UE
|
01.06.06
|
BBS10
|
|
p.Cys91fs*5/p.Leu348fs*13
|
cLOF/cLOF
|
|
M
|
20-39
|
28
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
2FSK
|
04.01.01
|
BBS10
|
|
p.Arg49Trp/p.Leu414Ser
|
MS/MS
|
|
M
|
10-19
|
19
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
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
|
|
|
Bennouna-Greene et al. 2011
|
NK6A
|
1.10.19
|
BBS10
|
|
p.Arg49Trp/p.Arg49Trp
|
MS/MS
|
|
M
|
20-39
|
34
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
LCQ5
|
1.12.21
|
BBS10
|
|
p.Cys91fs*5/p.Tyr321*
|
cLOF/cLOF
|
|
M
|
20-39
|
30
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
BJT1
|
01.04.05
|
BBS12
|
|
p.Arg355*/p.Arg355*
|
cLOF/cLOF
|
|
M
|
20-39
|
23
|
0
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
JF1V
|
06.03.09
|
BBS12
|
|
p.Pro195Leu/p.Ile346Thr
|
MS/MS
|
|
M
|
20-39
|
37
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
9SFS
|
1.13.22
|
BBS12
|
|
p.Tyr257fs*10/p.Tyr257fs*10
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
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
|
|
|
Bennouna-Greene et al. 2011
|
4HRZ
|
1.11.20
|
BBS6
|
c.429delCT/c.433delAG
|
p.Asp143fs*6/p.Ser479*
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
GRKW
|
01.08.12
|
BBS9
|
|
p.Arg278*/deletion of exon 9
|
cLOF/cLOF
|
|
M
|
10-19
|
17
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
42P3
|
1.14.23
|
BBS9
|
|
deletion of exons 8 and 9/deletion of exons 8 and 9
|
cLOF/cLOF
|
|
M
|
20-39
|
22
|
0
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
Gerth et al. 2008
|
QWKB
|
2293
|
BBS1
|
|
p.Met390Arg/p.Asn524del
|
MS/MS
|
|
M
|
20-39
|
21
|
1
|
1
|
|
|
|
0
|
|
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
|
|
|
Otto et al. 2010
|
L0I5
|
FI.2_21
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
|
Otto et al. 2010
|
L0I5
|
FI.2_22
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
|
Otto et al. 2010
|
L0I5
|
FI.2_23
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
|
Otto et al. 2010
|
L0I5
|
FI.2_24
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
|
Otto et al. 2010
|
4DOC
|
FII.22_21
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
1
|
1
|
|
|
|
NA
|
|
|
Otto et al. 2010
|
4DOC
|
FII.22_22
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
1
|
1
|
|
|
|
NA
|
|
|
Otto et al. 2010
|
AZ5O
|
NK-F1063
|
BBS16
|
c.1444delA/c.1627_1630delGATA
|
p.Thr482fs*12/p.Asp543fs*24
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
India
|
|
|
Branfield Day et al. 2015
|
NA
|
15
|
BBS1
|
|
|
|
|
F
|
20-39
|
23
|
|
1
|
|
|
|
1
|
|
0
|
|
NA
|
|
|
Otto et al. 2010
|
IDME
|
SS23/A1365_21
|
BBS16
|
c.1420delG/c.1420delG
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
La Réunion
|
|