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Source ID
Gene
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Protein change
TOM
Add. mut.
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Age
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Notes
Deveault et al. 2011 75UO 15 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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 M 10-19 17 1 1 1 1 1 1 1 Denea
Young et al. 1998 VNDY 15 BBS3 F 40+ 54 1 1 1 Newfoundland
Branfield Day et al. 2015 NA 15 BBS1 F 20-39 23 1 1 0 NA
Kerr et al. 2015 8WRO 15d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF M 10-19 16 1 1 1 1 0 0 1 0 1 Iraqi
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Deveault et al. 2011 75UO 16 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 20-39 30 1 1 1 1 0 Denea
Kerr et al. 2015 D9ZV 16 BBS6 p.Cys99Arg/p.Cys99Arg MS/MS M 20-39 24 1 1 1 0 1 1 1 0 Portugese
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Branfield Day et al. 2015 NA 16 BBS10 F 20-39 20,3 1 1 0 British
Braun et al. 2014 NA 16 BBS3 M 10-19 18 1 0 French
Castro-Sanchez et al. 2015 NKMZ 164 BBS12 p.Gly539Asp/p.Pro632Phefs*7 MS/cLOF M 40+ 50 1 1 1 1 1! 1 0 1 1! Spanish
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Deveault et al. 2011 75UO 17 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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 F 0-9 7 1 1 1 1 Denea
Kerr et al. 2015 RYP1 17 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS F 0-9 7 1 1 1 0 1! 1 0 Arabica
Branfield Day et al. 2015 NA 17 BBS10 F 20-39 22,3 1 1 1 British/Irish
Braun et al. 2014 NA 17 BBS10 M 20-39 25 1 0 French
Deveault et al. 2011 75UO 18 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 40+ 43 1 1 1 1 1 1 Denea
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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Branfield Day et al. 2015 NA 18 BBS10 M 10-19 18,2 1 1 0 German
Braun et al. 2014 NA 18 BBS12 F 20-39 22 1 1 French
Deveault et al. 2011 ZR8V 19 BBS1 p.Met390Arg/p.Asn524del MS/MS
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 M 20-39 24 1 1 0 0 1 1 1 English
Suzuki et al. 2016 UFCD 19 BBS1 c.1139G>A/c.1139G>A p.Arg380Gln/p.Arg380Gln MS/MS 1 0 1 0 0 1 Omani
Branfield Day et al. 2015 NA 19 BBS6 M 20-39 22,2 1 1 1 NA
Braun et al. 2014 NA 19 BBS12 M 20-39 39 1 1 French
Kerr et al. 2015 YWXA 19e BBS8 c.IVS2+1A/c.IVS2+1A splice/splice cLOF/cLOF F 10-19 17 1 1 1 1! 0 1 Pakistani
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Deveault et al. 2011 0MN1 2 BBS12 p.Val400Met/p.Arg674Cys MS/MS
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 M 20-39 27 1 1 1 0 0 0 1 1 Egyptian
Kerr et al. 2015 KV2V 2 BBS1 p.Met242Argfs*83/p.Met390Arg cLOF/MS
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 F 20-39 29 1 1 1 1 0 0 0 1 English/Scottish/German/Iceland
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Ece Solmaz et al. 2015 6FB1 2 BBS1 c.48-3C>G/c.48-3C>G splice/splice cLOF/cLOF 0-9 2,5 0 0 1 1 1 1 0 0 1 Turkish