|
Abu-Safieh et al. 2012
|
ZLPD
|
BBS-F019-A
|
BBS6
|
c.871G>T/c.871G>T
|
p.Val291Phe/p.Val291Phe
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
1
|
0
|
|
Saudi Arabian
|
|
|
Abu-Safieh et al. 2012
|
LEPV
|
BBS-arRP-F026-A
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Abu-Safieh et al. 2012
|
LEPV
|
BBS-arRP-F026-B
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Abu-Safieh et al. 2012
|
LEPV
|
BBS-arRP-F026-C
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Abu-Safieh et al. 2012
|
LEPV
|
BBS-arRP-F026-D
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Abu-Safieh et al. 2012
|
BBRI
|
BBS-F029-A
|
BBS10
|
c.728_731del/c.728_731del
|
p.Lys243Ilefs*15/p.Lys243Ilefs*15
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Saudi Arabian
|
|
|
Deveault et al. 2011
|
TGKV
|
52
|
BBS12
|
|
p.Ser35*/p.Ser35*
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
19
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
Mexican
|
|
|
Lindstrand et al. 2016
|
LYAD
|
AR246-03
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
[]
|
M
|
10-19
|
12
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
NA
|
|
|
Phelps et al. 2017
|
5LKL
|
UW112-4
|
BBS20
|
|
|
|
[]
|
|
|
|
0
|
|
0
|
|
|
1
|
|
1
|
|
European
|
|
|
Phelps et al. 2017
|
7J4Q
|
UW259-3
|
BBS14
|
|
|
|
[]
|
|
|
|
0
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
|
Phelps et al. 2017
|
MDPS
|
UW013-3
|
BBS14
|
|
|
|
[]
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
|
Leitch et al. 2008
|
7AAP
|
KK20-04
|
BBS9
|
c.2804G>A/c.2804G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
5
|
1
|
1
|
1
|
1
|
1
|
1
|
|
0
|
1
|
Saudi Arabian
|
|
|
Leitch et al. 2008
|
IVV9
|
KK51-04
|
BBS14
|
|
p.Glu1903*/p.Glu1903*
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
0
|
1
|
|
1
|
|
0
|
1
|
Saudi Arabian
|
|
|
Lindstrand et al. 2014
|
O9YO
|
DM012-003
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
1
|
N. European
|
|
|
Lindstrand et al. 2014
|
XFT0
|
RC1-03
|
BBS10
|
c.926T>C/c.9_14delTTCTAT
|
p.Leu309Pro/p.Ser3_Met5delinsArg
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
1
|
Latino
|
|
|
Lindstrand et al. 2016
|
GW00
|
AR888-03
|
BBS1
|
c.1645G>T/deletion of exons 1-11
|
p.Glu549*/deletion of exons 1-11
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
4
|
1
|
1
|
1
|
1
|
|
1
|
|
|
1
|
Latino
|
[]
|
|
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
|
[]
|
|
Lindstrand et al. 2016
|
I6N5
|
RC2-03
|
BBS2
|
c.367A>G/c.367A>G
|
p.Ile123Val/p.Ile123Val
|
MS/MS
|
[]
|
M
|
0-9
|
6
|
1
|
0
|
1
|
|
1
|
1
|
|
|
1
|
Latino
|
[]
|
|
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
|
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:4
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
[]
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
0
|
Spanish
|
|
|
Abu-Safieh et al. 2012
|
SZVM
|
BBS-F001-A
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
Saudi Arabian
|
|
|
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
|
|
|
Katsanis et al. 2001
|
ZH2A
|
AR241\
|
BBS2
|
|
p.Arg315Gln/p.Arg315Gln
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
0
|
European/American
|
|