Items: 751 - 775 from 899
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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
Al-Hamed et al. 2014 73V9 Affected female-2 BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 0 1 1 1 1 1 1 Saudi Arabian
Al-Hamed et al. 2014 73V9 Affected male BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF M 0 1 1 1 1 0 1 1 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
Billingsley et al. 2010 6XEU 79z BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS F 10-19 18 1 1 0 0 0 British
Billingsley et al. 2010 6XEU 80z BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS
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 F 10-19 15 1 1 1 0 0 British
Shaheen et al. 2016 6TP3 F-22-33 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 6TP3 F-22-34 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 0 1 Saudi Arabian
Shaheen et al. 2016 6TP3 F-22-35 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 6TP3 F-22-36 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 0 1 Saudi Arabian
Azari et al. 2006 6SEB P4 BBS1 p.Met390Arg/p.Leu518Pro MS/MS F 10-19 19 1 1 USA
Phelps et al. 2017 6S11 UW045-3 BBS14 0 0 0 0 European
Phelps et al. 2017 6S11 UW045-4 BBS14 0 0 1 0 European
Fedick et al. 2013 6RJ4 1 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS M 1 1 Ashkenazi Jewish
Deveault et al. 2011 6HZB 38 BBS12 p.Thr501Met/p.Arg525His MS/MS
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 F 0-9 4 1 1 1 1 1 1 1 0 1 Ghanian
Harville et al. 2010 6FMK A2889-II1 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 0 Israel Arab
Harville et al. 2010 6FMK A2889-II2 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 1 1 Israel Arab
Ece Solmaz et al. 2015 6FB1 2 BBS1 c.48-3C>G/c.48-3C>G splice/splice cLOF/cLOF 0-9 2,5 0 0 1 1 1 1 0 0 1 Turkish
Davies et al. 2018 65XJ BBS003 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Fattahi et al. 2014 65UG 34881 BBS4 c.829G>A/c.829G>A p.Gly277Arg/p.Gly277Arg MS/MS 1 1 1 1 0 Iranian
Deveault et al. 2011 65LF 69 BBS2 p.Arg622*/p.Ala136Pro cLOF/MS F 0-9 7 1 1 1 1 1 1 South African Black/European/Asian
Estrada-Cuzcano et al. 2012 (a) 5ZO2 9/F BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 0 0 1 0 0 0 0 German
M'hamdi et al. 2013 5XR9 BBS-F03-A BBS4 deletion of exons 4-6/deletion of exons 4-6 cLOF/cLOF
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 F 0-9 4,5 1 1 1 0 1 0 Tunisian
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
Chaki et al. 2011 5NJD F195-21 BBS16 c.1946_1949del4/c.1946_1949del4 p.Cys649fs*10/p.Cys649fs*10 cLOF/cLOF 1 0 1 0 NA
Shaheen et al. 2016 5M4H F-48-86 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian