Chaki et al. 2011
|
HIJ9
|
F101-21
|
BBS14
|
c.5163del1/c.1066-1G>A
|
p.Thr1721fs*3/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
DNA0
|
F-14-20
|
BBS1
|
c.831-3C>G/c.1285C>T
|
p.Arg429*/p.Arg429*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
YWEP
|
M732-(804)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
51
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Spanish
|
|
Chaki et al. 2011
|
51M2
|
F15-21
|
BBS14
|
c.5649_5650insA/c.5850del1
|
p.Leu1884fs*23/p.Phe1950fs*15
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
ANYX
|
F-17-24
|
BBS1
|
c.1424dupT/c.1424dupT
|
p.Ser476Glufs*25/p.Ser476Glufs*25
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
IRUP
|
RP1054 (249)§
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
20-39
|
29
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
Chaki et al. 2011
|
51M2
|
F15-24
|
BBS14
|
c.5649_5650insA/c.5850del2
|
p.Leu1884fs*23/p.Phe1950fs*15
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
YTIO
|
F-23-37
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
VS17
|
RP1193 (747)
|
BBS1
|
|
p.Met390Arg/p.Arg146*
|
MS/cLOF
|
|
M
|
20-39
|
34
|
1
|
1
|
0
|
1
|
0
|
|
|
|
|
Spanish
|
|
Chaki et al. 2011
|
2XE6
|
F335-21
|
BBS14
|
c.2915T>C/c.2915T>C
|
p.Leu972Pro/p.Leu972Pro
|
MS/MS
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
YTIO
|
F-23-38
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
CXPA
|
RP1322 (1168)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
47
|
1
|
0
|
1
|
1
|
|
0
|
1
|
|
|
Spanish
|
|
Chaki et al. 2011
|
TMOJ
|
F394-27
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
HP63
|
F-47-81
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
CXPA
|
RP1322 (1169)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
43
|
1
|
0
|
1
|
1
|
|
0
|
1
|
|
|
Spanish
|
|
Chaki et al. 2011
|
G914
|
F4-21
|
BBS14
|
c.2218-4_2222del9/c.2218-4_2222del9
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Castro-Sanchez et al. 2015
|
U1ZZ
|
RP1378 (24)‡
|
BBS1
|
|
p.Met390Arg/p.Asp278fs*9
|
MS/cLOF
|
|
F
|
20-39
|
34
|
1
|
1
|
0
|
0
|
0
|
|
|
|
|
Spanish
|
|
Chaki et al. 2011
|
G914
|
F4-22
|
BBS14
|
c.2218-4_2222del10/c.2218-4_2222del10
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
HP63
|
F-47-83
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
U1ZZ
|
RP1378 (858)‡
|
BBS1
|
|
p.Met390Arg/p.Asp278fs*9
|
MS/cLOF
|
|
M
|
40+
|
41
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Spanish
|
|
Chaki et al. 2011
|
C8Q4
|
F57-21
|
BBS14
|
c.1A>G/c.1419_1423del5
|
start codon defect/p.Lys473fs*6
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
HP63
|
F-47-84
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
40IX
|
RP1568 (502)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
54
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Spanish
|
|
Chaki et al. 2011
|
3DQF
|
F63-21
|
BBS14
|
c.4656del1/c.5668G>T
|
p.Lys1552fs*5/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
HP63
|
F-47-85
|
BBS1
|
c.951+58C>T/c.951+58C>T
|
p.Gly318Valfs*61/p.Gly318Valfs*61
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|