Items: 126 - 150 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
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Age
RD
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PD
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Notes
Suzuki et al. 2016 JX2N 25 BBS14 c.1645C>T/c.6012-12T>A p.Arg549*/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Gerth et al. 2008 O76S 2512 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 29 1 1 0 0 0 0 Canada
Gerth et al. 2008 NSTJ 2597 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 21 1 1 1 1 0 0 Canada
Gerth et al. 2008 OZTA 2621 BBS10 p.Cys91Trp/p.Ala474fs*10 MS/cLOF M 10-19 14 1 1 0 1 0 Canada
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
Billingsley et al. 2010 F7X3 2x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 24 1 0 1 0 0 0 1 1 Egyptian
Deveault et al. 2011 0MN1 3 BBS12 p.Val400Met/p.Arg674Cys MS/MS
[]
 M 20-39 25 1 1 1 0 1 0 1 1 Egyptian
Ece Solmaz et al. 2015 DWMJ 3 BBS1 c.851delA/c.851delA p.Tyr284Serfs*5/p.Tyr284Serfs*5 cLOF/cLOF 10-19 16 1 1 1 1 1 0 0 1 1 Turkish
Lim et al. 2014 NA 3 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Fedick et al. 2013 PZIT 3 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
Branfield Day et al. 2015 NA 3 BBS16 F 10-19 17,9 1 1 0 Indian
Braun et al. 2014 NA 3 BBS1 M 20-39 24 1 1 French
Estrada-Cuzcano et al. 2012 (a) 3VCU 3/Fa BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 0 0 0 0 0 0 0 Italian
Deveault et al. 2011 DUAC 30 BBS10 p.Cys91Leufs*5/p.Tyr559* cLOF/cLOF
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 F 20-39 32 1 1 1 1 0 1 1 Irish
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
Fattahi et al. 2014 VO8X 34754 BBS2 c.1003C>T/c.1003C>T p.Gln335*/p.Gln335* cLOF/cLOF 1 1 1 1 1 Iranian
Fattahi et al. 2014 4CJ1 34792 BBS9 c.1789+1G>A/c.1789+1G>A splice/splice cLOF/cLOF 1 1 1 0 1 0 1 Iranian
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
Fattahi et al. 2014 2X8V 34885 BBS2 c.471G>C/c.471G>C p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF 1 1 1 1 0 Iranian
Deveault et al. 2011 ERRX 35 BBS9 p.Thr111Leufs*22/p.Thr111Leufs*22 cLOF/cLOF F 20-39 22 1 1 1 1 1 1 1 1 Italian
Fattahi et al. 2014 KQKK 35201 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 1 1 1 0 1 1 Iranian
Deveault et al. 2011 ERRX 36 BBS9 p.Thr111Leufs*22/p.Thr111Leufs*22 cLOF/cLOF F 20-39 20 1 1 1 1 1 1 1 1 Italian
Fattahi et al. 2014 GEMF 36000 BBS12 c.2019del/c.2019del p.Trp673Cysfs*7/p.Trp673Cysfs*7 cLOF/cLOF 1 1 1 0 1 0 Iranian
Fattahi et al. 2014 LJ5D 37709 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 0 1 1 0 1 Iranian
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
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