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
CI
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REN
HRT
LIV
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Notes
Shaheen et al. 2016 R1VC F-66-123 BBS4 c.77_156del/c.77_156del p.Ala26Glyfs*15/p.Ala26Glyfs*15 cLOF/cLOF 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 FZRX BBS-F021-A BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 1 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 JTJM 129 BBS1 p.Met390Arg/splice MS/cLOF M 0-9 9 1 1 1 1 0 1 1 Caucasian
Janssen et al. 2011 RGZ9 AR847 (A2877)-4 BBS9 c.2390_2393delAACA/c.2521_2522insAG p.Lys628fs*22/p.Ala672fs*219 cLOF/cLOF 1 1 1 0 1 1 N. European
Shaheen et al. 2016 GQ1Q F-74-136 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 FZRX BBS-F021-B BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF
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 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 0ZCC 8 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 21 1 0 1 1 0 0 1 1 Polish
Janssen et al. 2011 1PLE PB233 (A2013) 0 BBS9 c.1556T>G/c.1556T>G p.Leu350Arg/p.Leu350Arg MS/MS 1 1 1 1 1 Turkish
Shaheen et al. 2016 D0IN F-77-139 BBS4 c.172C>T/c.172C>T p.Gln58*/p.Gln58* cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 RD3Y BBS-F026-A BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 9QNU 63 BBS10 p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF
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 M 10-19 17 1 1 1 1 1 0 1 1 Irish/English/German/Norwegian
Janssen et al. 2011 1PLE PB2330 BBS9 c.1556T>G/c.1556T>G p.Leu350Arg/p.Leu350Arg MS/MS 1 1 Turkish
Shaheen et al. 2016 3MZE F-2-2 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
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
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 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
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 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 32AO 80 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 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
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 1 1 1 1 1 1 0 0 Saudi Arabian