|
Pawlik et al. 2010
|
RNS3
|
IV-9
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
10-19
|
19
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
|
Harville et al. 2010
|
WRRU
|
A2003-II1
|
BBS12
|
c.1589T>C/c.1589T>C
|
p.Leu530Pro/p.Leu530Pro
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
|
Harville et al. 2010
|
S9R9
|
A2015-II1
|
BBS12
|
c.1589T>C/c.1589T>C
|
p.Leu530Pro/p.Leu530Pro
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
|
Harville et al. 2010
|
E9UF
|
A2027-II1
|
BBS5
|
c.2T>A/c.2T>A
|
p.Met1Lys/p.Met1Lys
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
1
|
|
1
|
0
|
|
|
|
Pakistani
|
|
|
Qi et al. 2017
|
TTDR
|
|
BBS6
|
c.1175C>T/c.1192C>T
|
p.Thr392Met/p.Gln398*
|
MS/cLOF
|
[]
|
F
|
10-19
|
10
|
1
|
0
|
1
|
1
|
|
1
|
|
|
|
Chinese
|
|
|
Rahner et al. 2016
|
TUBA
|
II.1
|
BBS21
|
c.155+2T>C/c.155+2T>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
20
|
1
|
0
|
1
|
|
|
0
|
0
|
|
|
Moroccan
|
|
|
Rahner et al. 2016
|
TUBA
|
II.3
|
BBS21
|
c.155+2T>C/c.155+2T>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
|
|
0
|
0
|
|
|
Moroccan
|
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:1
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
29
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:10
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:5
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
|
Riazuddin et al. 2010
|
G8FZ
|
V:7
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
21
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Castro-Sanchez et al. 2015
|
0ZFK
|
B260 (1476)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
46
|
1
|
0
|
1
|
0
|
1
|
0
|
0
|
|
1
|
Spanish
|
|
|
Hulleman et al. 2016
|
E4HN
|
ID SIO101
|
BBS6
|
c.1184A>G/c.1184A>G
|
p.His395Arg/p.His395Arg
|
MS/MS
|
|
M
|
10-19
|
18
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
|
0
|
India
|
|
|
Hulleman et al. 2016
|
E4HN
|
ID SIO102
|
BBS6
|
c.1184A>G/c.1184A>G
|
p.His395Arg/p.His395Arg
|
MS/MS
|
|
F
|
10-19
|
13
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
|
0
|
India
|
|
|
Sathya Priya et al. 2015
|
U9D6
|
BBS-A
|
BBS4
|
c.1077-?_1601+?/c.1077-?_1601+?
|
p.?/p.?
|
?/?
|
|
|
|
|
1
|
0
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
|
Castro-Sanchez et al. 2015
|
DJ2Y
|
M622-(192)§
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
93
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
Spanish
|
|
|
Sathya Priya et al. 2015
|
DT0L
|
BBS-B
|
BBS6
|
c.748G>A/c.748G>A
|
p.Gly250Arg/p.Gly250Arg
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
|
0
|
|
|
1
|
Indian
|
|
|
Castro-Sanchez et al. 2015
|
IRUP
|
RP1054 (249)§
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
20-39
|
29
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
|
Castro-Sanchez et al. 2015
|
CXPA
|
RP1322 (1168)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
47
|
1
|
0
|
1
|
1
|
|
0
|
1
|
|
|
Spanish
|
|
|
Castro-Sanchez et al. 2015
|
CXPA
|
RP1322 (1169)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
43
|
1
|
0
|
1
|
1
|
|
0
|
1
|
|
|
Spanish
|
|
|
Castro-Sanchez et al. 2015
|
RJRD
|
RP1172 (1416)
|
BBS10
|
|
p.Cys91fs*4/p.Glu337del
|
cLOF/MS
|
|
M
|
10-19
|
13
|
1
|
0
|
1
|
1
|
|
|
1
|
|
0
|
Spanish
|
|
|
Shaheen et al. 2016
|
NLII
|
F-18-25
|
BBS2
|
c.805_1910del/c.805_1910del
|
p.Val269Glufs*12/p.Val269Glufs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|