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Protein change
TOM
Add. mut.
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Notes
Lindstrand et al. 2016 48D6 AR240-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 20-39 21 1 1 1 1 0 0 NA
Khan et al. 2016 (a) 4A6K BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 0-9 6 1 1 1 0 0 0 Saudi Arabian
Fattahi et al. 2014 4CJ1 34792 BBS9 c.1789+1G>A/c.1789+1G>A splice/splice cLOF/cLOF 1 1 1 0 1 0 1 Iranian
Otto et al. 2010 4DOC FII.22_21 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF 1 1 1 1 1 NA
Otto et al. 2010 4DOC FII.22_22 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF 1 1 1 1 1 NA
Bennouna-Greene et al. 2011 4HRZ 1.11.20 BBS6 c.429delCT/c.433delAG p.Asp143fs*6/p.Ser479* cLOF/cLOF M 20-39 24 1 1 0 French
Bennouna-Greene et al. 2011 4HTC 01.05.07 BBS2 p.Pro134fs*67/p.Leu209fs*21 cLOF/cLOF M 20-39 27 1 1 1 French
Hjortshoj et al. 2009 4LAO FO-09 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 0 Faroe Islands
Deveault et al. 2011 4P7U 73 BBS2 p.Arg413*/p.Arg413* cLOF/cLOF
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 M 0-9 3 1 1 1 1 1 1 1 Arabica
Janssen et al. 2011 4PPS KK44 (A2884) -8 BBS4 c.IVS3-2A>G/c.IVS3-2A>G splice/splice cLOF/cLOF 1 1 1 1 Saudi Arabian
Katsanis et al. 2001 4RJW AR171² BBS2 p.Asp104Ala/p.Arg634Pro MS/MS 1 1 1 0 0 European/American
Castro-Sanchez et al. 2015 4SJL 81 BBS12 p.Leu88Arg/p.Asn461Lysfs*10 MS/cLOF F 10-19 14 1 1 1 0 1 1 0 1 1! Spanish
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Estrada-Cuzcano et al. 2012 (a) 4YDB 8/Mb BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 0 0 0 Belgian
Shin et al. 2015 50Z6 II:1 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 28 1 1 0 1 0 1 1 0 1 Korean
Shin et al. 2015 50Z6 II:2 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 26 1 1 0 1 0 1 1 0 1 Korean
Chaki et al. 2011 51M2 F15-21 BBS14 c.5649_5650insA/c.5850del1 p.Leu1884fs*23/p.Phe1950fs*15 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 51M2 F15-24 BBS14 c.5649_5650insA/c.5850del2 p.Leu1884fs*23/p.Phe1950fs*15 cLOF/cLOF 1 0 1 0 NA
Estrada-Cuzcano et al. 2012 (a) 53FP 10/Fc BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 0 0 0 0 0 French
Hjortshoj et al. 2010 58IU P47 BBS10 p.Cys91Trpfs*5/p.Gln623* cLOF/cLOF
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 M 0-9 9 1 1 1 0 1 0 Scandinavian
Sathya Priya et al. 2015 5AB3 BBS-Y BBS2 c.209G>A/c.209G>A p.Ser70Asn/p.Ser70Asn MS/MS 1 1 0 0 1 1 Indian
Deveault et al. 2011 5J36 46 BBS6 p.Phe94Serfs*9/p.Phe94Serfs*9 cLOF/cLOF M 10-19 18 1 1 1 1 0 1 1 1 1 Newfoundland
Estrada-Cuzcano et al. 2012 (a) 5JXT 14/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 1 0 0 1 0 German
Phelps et al. 2017 5LKL UW112-3 BBS20 1 0 1 1 European
Phelps et al. 2017 5LKL UW112-4 BBS20
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 0 0 1 1 European
Shaheen et al. 2016 5M4H F-48-86 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
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