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
|
|
Deveault et al. 2011
|
F2VY
|
47
|
BBS1
|
|
p.Ile296Thrfs*7/p.Ile296Thrfs*7
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
9
|
1
|
1
|
1
|
0
|
|
1
|
|
1
|
1
|
Pakistani
|
|
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
|
|
Deveault et al. 2011
|
NAUR
|
32
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
MS/MS
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
0
|
0
|
|
1
|
1
|
Croatian
|
|
Abu-Safieh et al. 2012
|
799M
|
BBS-F009-A
|
BBS1
|
c.124+1G>A/c.951+58C>T
|
p.Leu43Glyfs*44/p.Gly318Valfs*62
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
NAUR
|
57
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
cLOF/cLOF
|
|
F
|
20-39
|
32
|
1
|
1
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Croatian
|
|
Abu-Safieh et al. 2012
|
799M
|
BBS-F009-B
|
BBS1
|
c.124+1G>A/c.951+58C>T
|
p.Leu43Glyfs*44/p.Gly318Valfs*62
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
ZR8V
|
19
|
BBS1
|
|
p.Met390Arg/p.Asn524del
|
MS/MS
|
[]
|
M
|
20-39
|
24
|
1
|
1
|
0
|
0
|
|
1
|
|
1
|
1
|
English
|
|
Abu-Safieh et al. 2012
|
LNEN
|
BBS-F010-A
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*62/p.Gly318Valfs*62
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
1
|
0
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
1R6I
|
39
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
25
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
1
|
English/Irish
|
|
Abu-Safieh et al. 2012
|
LNEN
|
BBS-F010-B
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*62/p.Gly318Valfs*62
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
1
|
0
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
QJBM
|
139
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
1
|
|
0
|
|
|
1
|
Nicaraguan
|
|
Abu-Safieh et al. 2012
|
LNEN
|
BBS-F010-C
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*62/p.Gly318Valfs*62
|
cLOF/cLOF
|
|
|
|
|
1
|
0
|
1
|
0
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
0QQE
|
21
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
29
|
1
|
1
|
1
|
1
|
0
|
0
|
|
1
|
1
|
English/German/Canadian
|
|
Abu-Safieh et al. 2012
|
K3C9
|
BBS-F014-A
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*62/p.Gly318Valfs*62
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
W8RW
|
45
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
25
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
1
|
English/Scottish/French/Canadian
|
|
Abu-Safieh et al. 2012
|
K3C9
|
BBS-F014-B
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*62/p.Gly318Valfs*62
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
J17C
|
75
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
|
1
|
|
|
NA
|
|
Abu-Safieh et al. 2012
|
JGD7
|
BBS-F016-A
|
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
|
NRG3
|
133
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
21
|
1
|
0
|
1
|
1
|
0
|
1
|
|
|
1
|
German/Irish/Swedish/Hungarian
|
|
Abu-Safieh et al. 2012
|
FZRX
|
BBS-F021-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
|
0
|
|
Saudi Arabian
|
|
Deveault et al. 2011
|
JTJM
|
129
|
BBS1
|
|
p.Met390Arg/splice
|
MS/cLOF
|
|
M
|
0-9
|
9
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
1
|
Caucasian
|
|
Abu-Safieh et al. 2012
|
FZRX
|
BBS-F021-B
|
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
|
|
Abu-Safieh et al. 2012
|
RD3Y
|
BBS-F026-A
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*62/p.Gly318Valfs*62
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
RD3Y
|
BBS-F026-B
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*62/p.Gly318Valfs*62
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|