Braun et al. 2014
|
NA
|
14
|
BBS9
|
|
|
|
|
M
|
20-39
|
27
|
1
|
|
|
0
|
|
|
|
|
|
French
|
|
Hjortshoj et al. 2009
|
H5EH
|
FO-10
|
BBS1
|
c.1091+3G>C/
|
splice/p.Met390Arg
|
cLOF/MS
|
|
M
|
20-39
|
31
|
1
|
0
|
1
|
0
|
|
|
|
|
|
Faroe Islands
|
|
Riise et al. 2002
|
PTMJ
|
VIII-2
|
BBS4
|
A>C in exon 7 splice acceptor position −2/A>C in exon 7 splice acceptor position −2
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
33
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Scandinavian
|
[]
|
Bujakowska et al. 2015
|
ARFT
|
Family 1, II.1
|
BBS20
|
c.1525-1G>A/c.4701C>A
|
splice/p.His1567Gln
|
cLOF/MS
|
|
|
10-19
|
15
|
1
|
1
|
1
|
|
|
0
|
|
1
|
|
White European
|
|
Hjortshoj et al. 2010
|
MIU3
|
P14
|
BBS10
|
|
p.Cys91Trpfs*5/p.Cys91Trpfs*5
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
8
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Scandinavian
|
|
Sathya Priya et al. 2015
|
ZPP2
|
BBS-G
|
BBS1
|
c.1340-2A>G/c.1340-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Indian
|
|
Bujakowska et al. 2015
|
ARFT
|
Family 1, II.2
|
BBS20
|
c.1525-1G>A/c.4701C>A
|
splice/p.His1567Gln
|
cLOF/MS
|
|
|
20-39
|
22
|
1
|
1
|
0
|
|
|
0
|
|
1
|
|
White European
|
|
Hjortshoj et al. 2010
|
VNHI
|
P41
|
BBS10
|
|
p.Arg49Trp/p.Arg49Trp
|
MS/MS
|
[]
|
M
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
Scandinavian
|
|
Sathya Priya et al. 2015
|
HA2V
|
BBS-M
|
BBS1
|
c.1695G>A/c.1695G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Indian
|
|
Bujakowska et al. 2015
|
L077
|
Family 2, II.1
|
BBS20
|
c.4815T>G/c.4815T>G
|
p.Asp1605Glu/p.Asp1605Glu
|
MS/MS
|
|
|
20-39
|
33
|
1
|
0
|
0
|
|
|
0
|
|
|
|
White European
|
|
Hjortshoj et al. 2010
|
58IU
|
P47
|
BBS10
|
|
p.Cys91Trpfs*5/p.Gln623*
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
9
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Scandinavian
|
|
Bujakowska et al. 2015
|
ZUX3
|
Family 3, II.2
|
BBS20
|
c.770T>C/c.3112-5T>A
|
p.Leu257Pro/splice
|
MS/cLOF
|
|
|
20-39
|
38
|
1
|
0
|
|
|
|
0
|
|
|
|
White European
|
|
Hjortshoj et al. 2010
|
W986
|
P1
|
BBS2
|
|
p.Phe221fs*25/p.Phe221fs*25
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
6
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Scandinavian
|
|
Sathya Priya et al. 2015
|
SREX
|
BBS-F1
|
BBS10
|
c.1227delA/c.1227delA
|
p.Gln409Hisfsˆ*22/p.Gln409Hisfsˆ*22
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
Hjortshoj et al. 2010
|
Y6V5
|
P16
|
BBS2
|
|
p.Phe221fs*25/p.Arg216*
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
5
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
|
Scandinavian
|
|
Sathya Priya et al. 2015
|
UGBG
|
BBS-H
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Indian
|
|
Hjortshoj et al. 2010
|
QC14
|
P42
|
BBS2
|
|
p.Arg216*/p.Tyr24*
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Scandinavian
|
|
Sathya Priya et al. 2015
|
AF1K
|
BBS-Q
|
BBS11
|
c.722A>G/c.722A>G
|
p.Tyr241Cys/p.Tyr241Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Indian
|
|
Castro-Sanchez et al. 2015
|
LX4R
|
GBB23 (2128)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
[]
|
F
|
40+
|
51
|
1
|
1
|
1
|
1
|
|
1
|
1
|
|
|
Spanish
|
|
Hjortshoj et al. 2010
|
DFPM
|
P55
|
BBS2
|
|
p.Phe221fs*25/p.Gln569*
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
19
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Scandinavian
|
|
Castro-Sanchez et al. 2015
|
LX4R
|
GBB23 (2129)‡
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
59
|
1
|
1
|
1
|
1
|
|
1
|
1
|
|
|
Spanish
|
|
Hjortshoj et al. 2010
|
XKZA
|
P57
|
BBS2
|
|
p.Val94Serfs*8/p.Val94Serfs*8
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Scandinavian
|
|
Castro-Sanchez et al. 2015
|
M6S4
|
GBB27 (I)‡
|
BBS1
|
|
p.Met390Arg/p.His504fs*48
|
MS/cLOF
|
|
M
|
10-19
|
17
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
Spanish
|
|
Sathya Priya et al. 2015
|
PBI3
|
BBS-F
|
BBS2
|
c.376A>G/c.376A>G
|
p.Ile123Val/p.Ile123Val
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
Castro-Sanchez et al. 2015
|
3KOY
|
GBB6 (110)
|
BBS1
|
|
p.Met390Arg/p.Leu288Arg
|
MS/MS
|
|
M
|
20-39
|
38
|
1
|
1
|
1
|
0
|
0
|
|
|
|
|
Spanish
|
|