|
Esposito et al. 2017
|
Q6AP
|
P.13
|
BBS10
|
c.235dupA/c.271dupT
|
p.Thr79Asnfs*17/p.Cys91Leufs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
|
Esposito et al. 2017
|
ZUWC
|
P.15
|
BBS10
|
c.641T>A/c.641T>A
|
p.Val214Glu/p.Val214Glu
|
MS/MS
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
|
Esposito et al. 2017
|
QAAA
|
P.8a
|
BBS2
|
c.84delC/c.1059dupT
|
p.Pro29Argfs*50/p.Asn354*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
|
|
|
|
1
|
1
|
|
|
Italian
|
|
|
Esposito et al. 2017
|
EY9N
|
P.9
|
BBS2
|
c.225T>G/c.225T>G
|
p.Val75Gly/p.Val75Gly
|
MS/MS
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
ONMF
|
11/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
1
|
0
|
|
0
|
Italian
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
3VCU
|
3/Fa
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
|
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
|
0
|
Italian
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
1NLX
|
7/W
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
|
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
0
|
Italian
|
|
|
Iannaccone et al. 2005
|
M1KN
|
pat1
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
28
|
1
|
1
|
0
|
0
|
1
|
|
|
|
0
|
Italian
|
|
|
Iannaccone et al. 2005
|
M1KN
|
pat2
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1
|
0
|
|
|
|
1
|
Italian
|
|
|
Iannaccone et al. 2005
|
M1KN
|
pat3
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
0
|
0
|
1
|
1
|
|
|
0
|
Italian
|
|
|
Harville et al. 2010
|
6FMK
|
A2889-II1 (A80533/4)
|
BBS7
|
c.1786G>A/c.1786G>A
|
p.Glu596Lys/p.Glu596Lys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
0
|
|
|
|
Israel Arab
|
|
|
Harville et al. 2010
|
6FMK
|
A2889-II2 (A80533/4)
|
BBS7
|
c.1786G>A/c.1786G>A
|
p.Glu596Lys/p.Glu596Lys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Israel Arab
|
|
|
Lindstrand et al. 2014
|
2JO8
|
44/4
|
BBS7
|
c.87_88delCA/c.87_88delCA
|
p.His29Glnfs*12/p.His29Glnfs*12
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
|
0
|
|
|
1
|
Israel
|
|
|
Lindstrand et al. 2016
|
2JO8
|
44/3
|
BBS7
|
c.87_88delCA/c.87_88delCA
|
p.His29Glnfs*12/p.His29Glnfs*12
|
cLOF/cLOF
|
[]
|
M
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
Israel
|
[]
|
|
Deveault et al. 2011
|
9QNU
|
63
|
BBS10
|
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
17
|
1
|
1
|
1
|
1
|
1
|
0
|
1
|
|
1
|
Irish/English/German/Norwegian
|
|
|
Deveault et al. 2011
|
DUAC
|
30
|
BBS10
|
|
p.Cys91Leufs*5/p.Tyr559*
|
cLOF/cLOF
|
[]
|
F
|
20-39
|
32
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
1
|
Irish
|
|
|
Kerr et al. 2015
|
8WRO
|
14d
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
1!
|
1
|
Iraqi
|
[]
|
|
Kerr et al. 2015
|
8WRO
|
15d
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
1
|
Iraqi
|
[]
|
|
Branfield Day et al. 2015
|
NA
|
10
|
BBS4
|
|
|
|
|
M
|
10-19
|
15,6
|
|
1
|
|
|
|
0
|
|
0
|
|
Iraqi
|
|
|
Branfield Day et al. 2015
|
NA
|
11
|
BBS4
|
|
|
|
|
F
|
10-19
|
18
|
|
1
|
|
|
|
0
|
|
0
|
|
Iraqi
|
|
|
Fattahi et al. 2014
|
KQKK
|
35201
|
BBS12
|
c.1156_1157CG>TA/c.1156_1157CG>TA
|
p.Arg386*/p.Arg386*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
GEMF
|
36000
|
BBS12
|
c.2019del/c.2019del
|
p.Trp673Cysfs*7/p.Trp673Cysfs*7
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
LJ5D
|
37709
|
BBS12
|
c.1156_1157CG>TA/c.1156_1157CG>TA
|
p.Arg386*/p.Arg386*
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
0
|
|
1
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
VO8X
|
34754
|
BBS2
|
c.1003C>T/c.1003C>T
|
p.Gln335*/p.Gln335*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Iranian
|
|
|
Fattahi et al. 2014
|
2X8V
|
34885
|
BBS2
|
c.471G>C/c.471G>C
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Iranian
|
|