Items: 101 - 125 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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Notes
Shaheen et al. 2016 NVC9 F-5-6 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 1 1 1 Saudi Arabian
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
Deveault et al. 2011 W8RW 45 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 25 1 1 1 0 1 1 1 English/Scottish/French/Canadian
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
Shaheen et al. 2016 NVC9 F-5-7 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 0 1 1 Saudi Arabian
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
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
Janssen et al. 2011 RGZ9 AR847 (A2877) -3 BBS9 c.2390_2393delAACA/c.2521_2522insAG p.Lys628fs*22/p.Ala672fs*219 cLOF/cLOF 1 1 0 1 1 N. European
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
[]
 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
[]
 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
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