Items: 476 - 500 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
Abu-Safieh et al. 2012 N2IG BBS-F006-A BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF
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 1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 N2IG BBS-F006-B BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF 1 1 0 1 1 0 0 0 Saudi Arabian
Shaheen et al. 2016 87BS F-3-4 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 799M BBS-F009-A BBS1 c.124+1G>A/c.951+58C>T p.Leu43Glyfs*44/p.Gly318Valfs*62 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 799M BBS-F009-B BBS1 c.124+1G>A/c.951+58C>T p.Leu43Glyfs*44/p.Gly318Valfs*62 cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 QJBM 139 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 0 1 1 0 1 Nicaraguan
Deveault et al. 2011 0QQE 21 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 29 1 1 1 1 0 0 1 1 English/German/Canadian
Abu-Safieh et al. 2012 K3C9 BBS-F014-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
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
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
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 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 NRG3 133 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 21 1 0 1 1 0 1 1 German/Irish/Swedish/Hungarian
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
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
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
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
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