Shaheen et al. 2016
|
DVJA
|
F-79-141
|
BBS10
|
c.924G>T/c.924G>T
|
p.Leu308Phe/p.Leu308Phe
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
IJVR
|
GBB36 (I)
|
BBS10
|
|
p.Val331Ala/p.Val331Ala
|
MS/MS
|
|
M
|
40+
|
45
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
0
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
CK6O
|
RP1032 (32)¶
|
BBS10
|
|
p.Gln284*/p.Gln284*
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
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
|
|
Janssen et al. 2011
|
OTUQ
|
A3185 0
|
BBS10
|
c.687delA/c.271_272insT
|
p.Pro229fs*8/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
USA
|
|
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
|
|
Janssen et al. 2011
|
HSBG
|
AR232 (A2839)-4
|
BBS10
|
c.271_272insT/c.1677delC
|
p.Cys91fs*5/p.Tyr559fs*1
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
M170
|
AR371 (A2850) -3
|
BBS10
|
c.271_272insT/c.899A>C
|
p.Cys91fs*5/p.His300Pro
|
cLOF/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
18IG
|
AR515 (A2857) -3
|
BBS10
|
c.271_272insT/c.1250C>T
|
p.Cys91fs*5/p.Ala417Val
|
cLOF/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
0
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
8Y4G
|
AR707 (A2864) -8
|
BBS10
|
c.271_272insT/c.1407T>G
|
p.Cys91fs*5/p.Tyr469*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
N. European
|
|
Davies et al. 2018
|
VQKL
|
BBS007
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
XSEE
|
BBS008
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
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
|
|
Davies et al. 2018
|
YJGI
|
BBS010
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
M
|
40+
|
50-59
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Davies et al. 2018
|
YP1P
|
BBS011
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
M
|
40+
|
50-59
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
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
|
|
Davies et al. 2018
|
0EMR
|
BBS012
|
BBS1
|
|
p.Met390Arg/p.Tyr284Serfs*5
|
MS/cLOF
|
|
F
|
40+
|
50-59
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Abu-Safieh et al. 2012
|
SZVM
|
BBS-F001-B
|
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
|
|
Davies et al. 2018
|
RM0J
|
BBS013
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
20-29
|
1
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
White European
|
|
Abu-Safieh et al. 2012
|
VXBV
|
BBS-F002-A
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
X08Z
|
BBS014
|
BBS1
|
|
p.Met390Arg/p.Gly73*
|
MS/cLOF
|
|
F
|
20-39
|
30-39
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
White European
|
|
Abu-Safieh et al. 2012
|
VXBV
|
BBS-F002-B
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Davies et al. 2018
|
AMYR
|
BBS015
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
40-49
|
1
|
1
|
0
|
0
|
1
|
0
|
0
|
|
|
White European
|
|
Abu-Safieh et al. 2012
|
VXBV
|
BBS-F002-C
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
2YSJ
|
1
|
BBS1
|
|
p.Arg160Gln/p.Arg160Gln
|
MS/MS
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
Swiss
|
|