Items: 76 - 100 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
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Notes
Chaki et al. 2011 X52J F336-21 BBS16 c.1339_340insG/c.1339_340insG p.Glu447fs*17/p.Glu447fs*17 cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 X52J F336-22 BBS16 c.1339_340insG/c.1339_340insG p.Glu447fs*17/p.Glu447fs*17 cLOF/cLOF 1 1 1 0 NA
Janssen et al. 2011 X0N3 PB206 (A2024) 0 BBS1 c.IVS5-1G>C/c.IVS5-1G>C splice/splice cLOF/cLOF 1 1 1 1 1 1 Turkish
Davies et al. 2018 X08Z BBS014 BBS1 p.Met390Arg/p.Gly73* MS/cLOF F 20-39 30-39 1 1 1 1 1 1 0 White European
Castro-Sanchez et al. 2015 WZMT GBB7 (111)‡ BBS1 p.Met390Arg/p.Val366Asp MS/MS F 20-39 21 1 1 1 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 WZMT GBB7 (112)‡ BBS1 p.Met390Arg/p.Val366Asp MS/MS M 20-39 25 1 1 1 1 1 0 1 Spanish
Janssen et al. 2011 WUGA A1885 0 BBS2 c.823C>T/c.1895G>C p.Arg275*/p.Arg632Pro cLOF/MS 1 0 0 1 0 USA
Harville et al. 2010 WRRU A2003-II1 BBS12 c.1589T>C/c.1589T>C p.Leu530Pro/p.Leu530Pro MS/MS 1 0 1 1 1 1 Pakistani
Shaheen et al. 2016 WQ0L F-67-124 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 WOAU F-6-8 BBS6 c.295T>C/c.295T>C p.Cys99Arg/p.Cys99Arg MS/MS 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 WOAU F-6-9 BBS6 c.295T>C/c.295T>C p.Cys99Arg/p.Cys99Arg MS/MS 1 1 1 1 1 1 1 Saudi Arabian
Fattahi et al. 2014 WNW3 40568 BBS4 c.77_220del/c.77_220del p.Pro27_Ala74del/p.Pro27_Ala74del cLOF/cLOF 1 1 1 1 1 1 Iranian
Janssen et al. 2011 WN8I AR724 (A2866) -5 BBS2 c.175C>T/c.72C>G p.Gln59*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 N. European
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Suzuki et al. 2016 WMKD 4 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Fattahi et al. 2014 WJ64 38931 BBS2 c.1910+1G>T/c.1910+1G>T splice/splice cLOF/cLOF 1 1 1 1 1 Iranian
Katsanis et al. 2001 WIEN PB043\ BBS2 p.Thr560Ile/p.Thr560Ile MS/MS
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 0 1 1 0 1 European/American
Castro-Sanchez et al. 2015 WICN M63 (1078)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 M 40+ 41 1 1 1 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 WICN M63 (1081)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 38 1 1 0 1 1 0 0 1 Spanish
Deveault et al. 2011 WE5M 76 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS M 0-9 8 1 1 1 1 Arabica
Harville et al. 2010 WDU9 A2875-II1 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 1 1 1 Europe
Harville et al. 2010 WDU9 A2875-II2 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 Europe
Ece Solmaz et al. 2015 WBR2 1 BBS10 c.931T>G/c.931T>G p.Ser311Ala/p.Ser311Ala MS/MS 10-19 16 1 0 1 1 1 0 1 0 1 Turkish
Chaki et al. 2011 WB7H A1365-21 BBS16 c.1420del1/c.1420del1 p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 WB7H A1365-22 BBS16 c.1420del2/c.1420del2 p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 0 1 0 NA
Hjortshoj et al. 2010 W986 P1 BBS2 p.Phe221fs*25/p.Phe221fs*25 cLOF/cLOF
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 F 0-9 6 1 1 1 0 0 Scandinavian