Items: 51 - 75 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
REP
REN
HRT
LIV
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Notes
Janssen et al. 2011 BYVF AR14 (A2824) -4 BBS7 c.878A>C/c.878A>C p.Gln293Pro/p.Gln293Pro MS/MS 1 1 1 1 1 1 N. European
Abu-Safieh et al. 2012 K3C9 BBS-F014-B BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 1 1 1 1 1 0 0 Saudi Arabian
Deveault et al. 2011 J17C 75 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 1 1 1 NA
Janssen et al. 2011 BYVF AR14 (A2824)-8 BBS7 c.878A>C/c.878A>C p.Gln293Pro/p.Gln293Pro MS/MS 1 1 1 1 1 1 N. European
Shaheen et al. 2016 U9IZ F-64-120 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 JGD7 BBS-F016-A BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF
[]
 1 1 1 1 1 0 0 0 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
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
[]
 1 1 1 1 0 0 0 Saudi Arabian
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
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
[]
 1 1 1 1 1 0 0 0 Saudi Arabian
Janssen et al. 2011 1PLE PB2330 BBS9 c.1556T>G/c.1556T>G p.Leu350Arg/p.Leu350Arg MS/MS 1 1 Turkish
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
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
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
Katsanis et al. 2000 0DJ3 AR237 1 BBS6 p.Tyr37Cys/p.Tyr37Cys MS/MS 1 1 1 European/American
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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
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