Janssen et al. 2011
|
RRH7
|
AR850 (A2878) -3
|
BBS2
|
c.72C>G/c.504delG
|
p.Tyr24*/p.Leu168fs*33
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
4PPS
|
KK44 (A2884) -8
|
BBS4
|
c.IVS3-2A>G/c.IVS3-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
|
Saudi Arabian
|
|
Janssen et al. 2011
|
RRH7
|
AR850 (A2878) -4
|
BBS2
|
c.72C>G/c.504delG
|
p.Tyr24*/p.Leu168fs*33
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
BYVF
|
AR14 (A2824) -4
|
BBS7
|
c.878A>C/c.878A>C
|
p.Gln293Pro/p.Gln293Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
BYVF
|
AR14 (A2824)-8
|
BBS7
|
c.878A>C/c.878A>C
|
p.Gln293Pro/p.Gln293Pro
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
RGZ9
|
AR847 (A2877) -3
|
BBS9
|
c.2390_2393delAACA/c.2521_2522insAG
|
p.Lys628fs*22/p.Ala672fs*219
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
|
0
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
RGZ9
|
AR847 (A2877)-4
|
BBS9
|
c.2390_2393delAACA/c.2521_2522insAG
|
p.Lys628fs*22/p.Ala672fs*219
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
1PLE
|
PB233 (A2013) 0
|
BBS9
|
c.1556T>G/c.1556T>G
|
p.Leu350Arg/p.Leu350Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Turkish
|
|
Janssen et al. 2011
|
1PLE
|
PB2330
|
BBS9
|
c.1556T>G/c.1556T>G
|
p.Leu350Arg/p.Leu350Arg
|
MS/MS
|
|
|
|
|
|
1
|
1
|
|
|
|
|
|
|
Turkish
|
|
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
|
|