Katsanis et al. 2001
|
VLFH
|
AR259§\
|
BBS2
|
|
p.Tyr24*/p.Gln59*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
0
|
European/American
|
|
Katsanis et al. 2001
|
8ZLD
|
AR579§
|
BBS2
|
|
p.Leu168fs*3/p.Arg216*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
IV3A
|
K059²
|
BBS2
|
|
p.Arg315Trp/p.Arg315Trp
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
NA
|
|
Katsanis et al. 2001
|
NITU
|
NFB14§
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
Newfoundland
|
|
Katsanis et al. 2001
|
9JDZ
|
PB005²
|
BBS2
|
|
p.Arg275*/p.Arg275*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
Z6T8
|
PB020²
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
|
European/American
|
|
Katsanis et al. 2001
|
XLCX
|
PB026²
|
BBS2
|
|
p.Asp170fs*2/p.Asp170fs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
WIEN
|
PB043\
|
BBS2
|
|
p.Thr560Ile/p.Thr560Ile
|
MS/MS
|
[]
|
|
|
|
0
|
1
|
1
|
|
|
0
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
H5L1
|
PB058²
|
BBS2
|
|
p.Cys210fs*37/p.Cys210fs*37
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
HYFU
|
AR237 2
|
BBS6
|
|
p.Tyr37Cys/p.Tyr37Cys
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
European/American
|
|
Kerr et al. 2015
|
03JU
|
1
|
BBS1
|
|
p.Ile330Thr/p.Arg483*
|
MS/cLOF
|
[]
|
F
|
20-39
|
23
|
1
|
1
|
1
|
1!
|
0
|
1
|
|
1
|
1
|
Polish
|
[]
|
Kerr et al. 2015
|
KV2V
|
2
|
BBS1
|
|
p.Met242Argfs*83/p.Met390Arg
|
cLOF/MS
|
[]
|
F
|
20-39
|
29
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
English/Scottish/German/Iceland
|
[]
|
Kerr et al. 2015
|
1GW6
|
3a
|
BBS1
|
|
p.Met390Arg/p.Leu505Profs*52
|
MS/cLOF
|
|
F
|
20-39
|
32
|
1
|
1
|
1
|
0
|
|
0
|
|
0
|
1
|
English/Irish/Scotish
|
[]
|
Kerr et al. 2015
|
1GW6
|
4a
|
BBS1
|
|
p.Met390Arg/p.Leu505Profs*52
|
MS/cLOF
|
[]
|
M
|
20-39
|
30
|
1
|
1
|
1
|
0
|
|
0
|
|
1!
|
0
|
English/Irish/Scotish
|
[]
|
Kerr et al. 2015
|
IULP
|
5
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
13
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Canadian
|
|
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
|
IC89
|
6
|
BBS10
|
|
p.Cys91Leufs*5/p.Glu104Lysfs*7
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1!
|
0
|
1
|
|
1!
|
1
|
English/Irish/Scottish
|
[]
|
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
|
[]
|
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
|
[]
|
Kerr et al. 2015
|
OVPA
|
11c
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
20-39
|
20
|
1
|
1!
|
1
|
1!
|
0
|
1
|
|
|
1
|
German/Italian
|
[]
|
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
|
ZRXG
|
13
|
BBS2
|
|
p.Tyr24*/p.Arg703*
|
cLOF/cLOF
|
|
F
|
20-39
|
28
|
1
|
1
|
1
|
1!
|
|
0
|
|
|
1
|
Polish
|
[]
|
Kerr et al. 2015
|
Q5T5
|
21
|
BBS21
|
|
p.Lys102*/p.Lys102*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Canadian
|
|