Janssen et al. 2011
|
JOFV
|
AR61 (A2826) -4
|
BBS1
|
c.223_224delCT/c.1169T>G
|
p.Leu75fs*23/p.Met390Arg
|
cLOF/MS
|
|
|
|
|
1
|
1
|
0
|
1
|
0
|
0
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
JOFV
|
AR61 (A2826)-5
|
BBS1
|
c.223_224delCT/c.616T>G
|
p.Leu75fs*23/p.Leu206Val
|
MS/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
X0N3
|
PB206 (A2024) 0
|
BBS1
|
c.IVS5-1G>C/c.IVS5-1G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Turkish
|
|
Janssen et al. 2011
|
OTUQ
|
A3185 0
|
BBS10
|
c.687delA/c.271_272insT
|
p.Pro229fs*8/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
USA
|
|
Janssen et al. 2011
|
N3GL
|
AR151 (A2834) -4
|
BBS10
|
c.271_272insT/c.1676_1677insA
|
p.Cys91fs*5/p.Tyr559fs*1
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
HSBG
|
AR232 (A2839)-4
|
BBS10
|
c.271_272insT/c.1677delC
|
p.Cys91fs*5/p.Tyr559fs*1
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
M170
|
AR371 (A2850) -3
|
BBS10
|
c.271_272insT/c.899A>C
|
p.Cys91fs*5/p.His300Pro
|
cLOF/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
18IG
|
AR515 (A2857) -3
|
BBS10
|
c.271_272insT/c.1250C>T
|
p.Cys91fs*5/p.Ala417Val
|
cLOF/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
8Y4G
|
AR707 (A2864) -8
|
BBS10
|
c.271_272insT/c.1407T>G
|
p.Cys91fs*5/p.Tyr469*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
N. European
|
|
Kamme et al. 2016
|
L4YK
|
II-1
|
BBS5
|
c.790G>A/c.790G>A
|
p.Gly264Arg/p.Gly264Arg
|
MS/MS
|
|
M
|
10-19
|
12
|
1
|
1
|
0
|
|
|
|
|
|
|
Swedish
|
|
Kamme et al. 2016
|
L4YK
|
II-2
|
BBS5
|
c.790G>A/c.790G>A
|
p.Gly264Arg/p.Gly264Arg
|
MS/MS
|
|
F
|
20-39
|
28
|
1
|
1
|
0
|
|
1
|
|
|
|
|
Swedish
|
|
Katsanis et al. 2000
|
0DJ3
|
AR237 1
|
BBS6
|
|
p.Tyr37Cys/p.Tyr37Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
European/American
|
[]
|
Katsanis et al. 2000
|
L1JD
|
AR301
|
BBS6
|
|
p.Tyr58Ala/p.Tyr58Ala
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
0
|
|
|
|
European/American
|
|
Katsanis et al. 2000
|
SZVU
|
NF-B1 1
|
BBS6
|
|
p.Asp143fs*15/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
SZVU
|
NF-B1 2
|
BBS6
|
|
p.Asp143fs*15/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
Y5Z6
|
NF-B13 1
|
BBS6
|
|
p.Asp143fs*15/p.Asp143fs*15
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
Y5Z6
|
NF-B13 2
|
BBS6
|
|
p.Asp143fs*15/p.Asp143fs*15
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
GLPO
|
NF-B3 1
|
BBS6
|
|
p.Phe94fs*10/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
GLPO
|
NF-B3 2
|
BBS6
|
|
p.Phe94fs*10/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
0
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
H6BV
|
NF-B4 1
|
BBS6
|
|
p.Phe94fs*10/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
H6BV
|
NF-B4 2
|
BBS6
|
|
p.Phe94fs*10/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2000
|
RAHD
|
NF-B5
|
BBS6
|
|
p.Leu277Pro/p.Phe94fs*10
|
MS/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
Katsanis et al. 2001
|
QDX9
|
AR029²
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
European/American
|
|
Katsanis et al. 2001
|
4RJW
|
AR171²
|
BBS2
|
|
p.Asp104Ala/p.Arg634Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
0
|
|
|
0
|
European/American
|
|
Katsanis et al. 2001
|
ZH2A
|
AR241\
|
BBS2
|
|
p.Arg315Gln/p.Arg315Gln
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
0
|
European/American
|
|