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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
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Notes
Kerr et al. 2015 ARZ9 18 BBS7 p.Arg238Glufs*59/p.Ser374* cLOF/cLOF F 10-19 18 1 1 1 1! 1 1 1 1 Peruvian/Spanish
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Abu-Safieh et al. 2012 AUFJ BBS-F028-A BBS12 c.1993_1996del/c.1993_1996del p.Val665Leufs*14/p.Val665Leufs*14 cLOF/cLOF
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 1 1 1 0 1 0 0 Saudi Arabian
Shaheen et al. 2016 AYAU F-122 188 BBS14 c.3190del/c.3190del p.Met1064*/p.Met1064* cLOF/cLOF 1 Saudi Arabian
Ece Solmaz et al. 2015 AYQT 6 BBS4 c.406-2A>G/c.406-2A>G splice/splice cLOF/cLOF 0-9 8 1 1 0 1 0 0 0 0 1 Turkish
Cox et al. 2012 AZ4J PT1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 27 1 1 1 1 0 1 USA
Otto et al. 2010 AZ5O NK-F1063 BBS16 c.1444delA/c.1627_1630delGATA p.Thr482fs*12/p.Asp543fs*24 cLOF/cLOF 1 1 1 1 India
Castro-Sanchez et al. 2015 B2KB GBB35 (I)§ BBS12 p.Gly539Asp/p.Gly539Asp MS/MS F 40+ 49 1 1 1 1 0 1 1 1 1 Spanish
Maria et al. 2016 B9HM F02 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 45 1 0 0 1 1 1 Pakistani
Maria et al. 2016 B9HM F02 IV:I BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 47 1 0 1 1 1 1 1 Pakistani
Gerth et al. 2008 BBNF 2301 BBS1 p.Asp8Asp (splice)/p.Arg483* cLOF/cLOF F 10-19 16 1 1 1 1 1 1 Canada
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
Abu-Safieh et al. 2012 BBRI BBS-F029-B 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
Abu-Safieh et al. 2012 BBRI BBS-F029-C BBS10 c.728_731del/c.728_731del p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF
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 1 1 1 0 1 0 0 0 Saudi Arabian
Innes et al. 2010 BF8A P2 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 0-9 0,5 1 1 1 Hutterite
Chaki et al. 2011 BG5M A1713 -22 BBS14 c.5182G>T/c.6277del1 p.Glu1728*/p.Val2093fs*4 cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 BG5M A1713-21 BBS14 c.5182G>T/c.6277del1 p.Glu1728*/p.Val2093fs*4 cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 BHW5 F159-21 BBS16 c.421-?_740+?del/c.421-?_740+?del p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs* cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 BHW5 F159-22 BBS16 c.421-?_740+?del/c.421-?_740+?del p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs* cLOF/cLOF 0 0 1 0 NA
Bennouna-Greene et al. 2011 BJT1 01.04.05 BBS12 p.Arg355*/p.Arg355* cLOF/cLOF M 20-39 23 0 1 1 French
M'hamdi et al. 2013 BK29 BBS-F10-A BBS6 c.1272+1G>A/c.1272+1G>A splice/splice cLOF/cLOF
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 F 0-9 7 1 1 1 1 1 0 Tunisian
Castro-Sanchez et al. 2015 BV7K RP294 (4352)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 38 1 1 1 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 BV7K RP294 (4707)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 31 1 1 1 1 0 0 0 Spanish
Ece Solmaz et al. 2015 BXSX 9 BBS7 c.712_715delAGAG/c.712_715delAGAG p.Arg238Glufs*59/p.Arg238Glufs*59 cLOF/cLOF 10-19 19 1 1 1 1 1 0 0 0 1 Turkish
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
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