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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
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Ethnicity
Notes
Riise et al. 2002 7ZYG IV-1 BBS4 2bp insertion in exon 8/2bp insertion in exon 8 fs/fs cLOF/cLOF F 10-19 13 1 1 1 0 Scandinavian
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Braun et al. 2014 NA 16 BBS3 M 10-19 18 1 0 French
Braun et al. 2014 NA 1 BBS4 F 20-39 26 1 1 French
Braun et al. 2014 NA 9 BBS5 M 20-39 24 1 0 French
Hjortshoj et al. 2009 JLFX FO-08 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 Faroe Islands
Braun et al. 2014 NA 10 BBS5 M 20-39 39 1 0 French
Riise et al. 2002 PTMJ VIII-1 BBS4 A>C in exon 7 splice acceptor position −2/A>C in exon 7 splice acceptor position −2 splice/splice cLOF/cLOF F 20-39 20 1 1 0 1 0 Scandinavian
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Braun et al. 2014 NA 14 BBS9 M 20-39 27 1 0 French
Hjortshoj et al. 2009 H5EH FO-10 BBS1 c.1091+3G>C/ splice/p.Met390Arg cLOF/MS M 20-39 31 1 0 1 0 Faroe Islands
Riise et al. 2002 PTMJ VIII-2 BBS4 A>C in exon 7 splice acceptor position −2/A>C in exon 7 splice acceptor position −2 splice/splice cLOF/cLOF F 20-39 33 1 1 1 1 0 Scandinavian
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Bujakowska et al. 2015 ARFT Family 1, II.1 BBS20 c.1525-1G>A/c.4701C>A splice/p.His1567Gln cLOF/MS 10-19 15 1 1 1 0 1 White European
Hjortshoj et al. 2010 MIU3 P14 BBS10 p.Cys91Trpfs*5/p.Cys91Trpfs*5 cLOF/cLOF
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 F 0-9 8 1 1 1 1 1 Scandinavian
Bujakowska et al. 2015 ARFT Family 1, II.2 BBS20 c.1525-1G>A/c.4701C>A splice/p.His1567Gln cLOF/MS 20-39 22 1 1 0 0 1 White European
Bujakowska et al. 2015 L077 Family 2, II.1 BBS20 c.4815T>G/c.4815T>G p.Asp1605Glu/p.Asp1605Glu MS/MS 20-39 33 1 0 0 0 White European
Sathya Priya et al. 2015 FXNB BBS-C BBS10 c.1660G>A/c.1660G>A p.Gly401Glu/p.Gly401Glu MS/MS 1 1 1 1 0 1 Indian
Bujakowska et al. 2015 ZUX3 Family 3, II.2 BBS20 c.770T>C/c.3112-5T>A p.Leu257Pro/splice MS/cLOF 20-39 38 1 0 0 White European
Hjortshoj et al. 2010 W986 P1 BBS2 p.Phe221fs*25/p.Phe221fs*25 cLOF/cLOF
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 F 0-9 6 1 1 1 0 0 Scandinavian
Sathya Priya et al. 2015 SREX BBS-F1 BBS10 c.1227delA/c.1227delA p.Gln409Hisfsˆ*22/p.Gln409Hisfsˆ*22 cLOF/cLOF 1 1 1 1 0 Indian
Sathya Priya et al. 2015 UGBG BBS-H BBS10 c.271_272insT/c.271_272insT p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF 1 1 1 0 0 Indian
Castro-Sanchez et al. 2015 LX4R GBB23 (2128)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 40+ 51 1 1 1 1 1 1 Spanish
Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
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 F 10-19 19 1 1 1 1 1 Scandinavian
Sathya Priya et al. 2015 MAED BBS-J BBS12 c.704C>G/c.704C>G p.Pro108Arg/p.Pro108Arg MS/MS 1 1 1 0 0 1 Indian
Castro-Sanchez et al. 2015 LX4R GBB23 (2129)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 59 1 1 1 1 1 1 Spanish
Sathya Priya et al. 2015 YFO2 BBS-Z BBS12 c.223delC/c.223delC p.Gln75Leufs*37/p.Gln75Leufs*37 cLOF/cLOF 1 1 1 1 0 1 1 Indian
Sathya Priya et al. 2015 PBI3 BBS-F BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 1 0 Indian