Items: 126 - 150 from 899
Source
Family
Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
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
Deveault et al. 2011 FHPR 83 BBS10 p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 40+ 43 1 1 1 1 0 1 1 1 Danish/Dutch/Norwegian
Kamme et al. 2016 L4YK II-1 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS M 10-19 12 1 1 0 Swedish
Shaheen et al. 2016 3MZE F-2-3 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 M722 BBS-F011-A BBS10 c.1365T>G/c.1365T>G p.Tyr455*/p.Tyr455* cLOF/cLOF
[]
1 1 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 32AO 79 BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS F 10-19 18 1 1 0 0 0 British
Kamme et al. 2016 L4YK II-2 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS F 20-39 28 1 1 0 1 Swedish
Shaheen et al. 2016 QT17 F-25-41 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 RYSZ BBS-F023-A BBS10 c.1889_1893del/c.1889_1893del p.Ser630Asnfs*4/p.Ser630Asnfs*4 cLOF/cLOF
[]
1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 32AO 80 BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS
[]
F 10-19 15 1 1 1 0 0 British
Shaheen et al. 2016 QT17 F-25-42 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 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 7233 74 BBS10 p.Cys91Leufs*5/p.Leu414Ser cLOF/MS M 10-19 18 1 1 1 0 1 0 1 British/Canadian/French/German
Katsanis et al. 2000 L1JD AR301 BBS6 p.Tyr58Ala/p.Tyr58Ala MS/MS 1 1 1 0 European/American
Shaheen et al. 2016 QT17 F-25-43 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 0 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 BBRI BBS-F029-B 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 DUAC 30 BBS10 p.Cys91Leufs*5/p.Tyr559* cLOF/cLOF
[]
F 20-39 32 1 1 1 1 0 1 1 Irish
Katsanis et al. 2000 SZVU NF-B1 1 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Shaheen et al. 2016 5UL5 F-32-56 BBS5 c.955_957del/c.955_957del p.Glu319del/p.Glu319del MS/MS 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 BBRI BBS-F029-C BBS10 c.728_731del/c.728_731del p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF
[]
1 1 1 0 1 0 0 0 Saudi Arabian
Deveault et al. 2011 V65S 28 BBS10 p.Cys91Leufs*5/p.Val230Phefs*7 cLOF/cLOF F 20-39 24 1 1 1 1 0 1! 1 1 Polish
Katsanis et al. 2000 SZVU NF-B1 2 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Shaheen et al. 2016 DK1A F-4-5 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 DIFV BBS-F027-A BBS12 c.959T>A/c.959T>A p.Leu320Gln/p.Leu320Gln MS/MS
[]
1 1 1 0 1 1 0 0 Saudi Arabian
Deveault et al. 2011 QGOK 10 BBS10 p.Cys91Trp/p.Val707*fs*1 MS/cLOF
[]
F 10-19 17 1 1 1 1! 1! 1 1 English/Irish
1 4 5 6 7 8 36