Phelps et al. 2017
|
MDPS
|
UW013-4
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
Billingsley et al. 2012
|
MESS
|
40
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
[]
|
|
10-19
|
16
|
1
|
1
|
0
|
1
|
0
|
1
|
0
|
0
|
1
|
East Indian
|
|
Billingsley et al. 2012
|
MESS
|
59
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
|
|
10-19
|
13
|
1
|
1
|
0
|
1!
|
0
|
1
|
1
|
1
|
1
|
East Indian
|
|
Phelps et al. 2017
|
MI6E
|
UW282-3
|
BBS14
|
|
|
|
[]
|
|
|
|
1
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
Phelps et al. 2017
|
MI6E
|
UW282-4
|
BBS14
|
|
|
|
[]
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
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
|
|
Lindstrand et al. 2016
|
MJ9E
|
AR400-03
|
BBS4
|
|
deletion of exons 5-6/deletion of exons 5-6
|
cLOF/cLOF
|
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
NA
|
|
Maria et al. 2016
|
MOAU
|
F03 IV:2
|
BBS5
|
c.734_744del/c.734_744del
|
p.Glu245Glyfs*18/p.Glu245Glyfs*18
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Pakistani
|
|
Aldahmesh et al. 2014
|
MZKJ
|
BBS_DG4a
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*62/p.Gly318Valfs*62
|
cLOF/cLOF
|
|
M
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
0
|
|
Saudi Arabian
|
|
Aldahmesh et al. 2014
|
MZKJ
|
BBS_DG4b
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*62/p.Gly318Valfs*62
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
|
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
N2IG
|
BBS-F006-A
|
BBS1
|
c.1110+329C>T/c.1110+329C>T
|
p.Gly318Valfs*36/p.Gly318Valfs*36
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
0
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
N2IG
|
BBS-F006-B
|
BBS1
|
c.1110+329C>T/c.1110+329C>T
|
p.Gly318Valfs*36/p.Gly318Valfs*36
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
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
|
|
Shaheen et al. 2016
|
N49S
|
F-21-31
|
BBS12
|
c.2041_2049del/c.2041_2049del
|
p.Leu682_Leu684del/p.Leu682_Leu684del
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
N49S
|
F-21-32
|
BBS12
|
c.2041_2049del/c.2041_2049del
|
p.Leu682_Leu684del/p.Leu682_Leu684del
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
N5JK
|
BBS009
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
30-39
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
White European
|
|
Lim et al. 2014
|
NA
|
1
|
BBS10
|
c.1189A>G/c.1189A>G
|
p.Ile397Val/p.Ile397Val
|
MS/MS
|
|
|
|
|
0
|
1
|
0
|
0
|
|
0
|
|
|
|
European
|
|
Lim et al. 2014
|
NA
|
2
|
BBS10
|
c.1189A>G/c.1189A>G
|
p.Ile397Val/p.Ile397Val
|
MS/MS
|
|
|
|
|
0
|
1
|
0
|
0
|
|
0
|
|
|
|
European
|
|
Lim et al. 2014
|
NA
|
3
|
BBS10
|
c.1189A>G/c.1189A>G
|
p.Ile397Val/p.Ile397Val
|
MS/MS
|
|
|
|
|
0
|
1
|
0
|
0
|
|
0
|
|
|
|
European
|
|
Baker et al. 2010
|
NA
|
NA
|
BBS1
|
|
|
|
|
F
|
10-19
|
17
|
0
|
1
|
0
|
|
|
|
|
|
1
|
United Kingdom
|
|
Baker et al. 2010
|
NA
|
NA
|
BBS1
|
|
|
|
|
F
|
20-39
|
24
|
1
|
1
|
1
|
|
|
|
|
|
|
United Kingdom
|
|
Baker et al. 2010
|
NA
|
NA
|
BBS1
|
|
|
|
|
F
|
10-19
|
18
|
1
|
|
1
|
|
|
|
|
|
1
|
United Kingdom
|
|
Baker et al. 2010
|
NA
|
NA
|
BBS1
|
|
|
|
|
F
|
20-39
|
21
|
1
|
|
1
|
|
|
|
|
|
|
United Kingdom
|
|
Baker et al. 2010
|
NA
|
NA
|
BBS1
|
|
|
|
|
M
|
20-39
|
27
|
1
|
1
|
1
|
|
|
|
|
|
|
United Kingdom
|
|
Branfield Day et al. 2015
|
NA
|
15
|
BBS1
|
|
|
|
|
F
|
20-39
|
23
|
|
1
|
|
|
|
1
|
|
0
|
|
NA
|
|