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Add. mut.
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Notes
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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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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Schaefer et al. 2011(b) ZT7M VII.26 BBS10 c.145C>T/c.145C>T p.Arg49Trp/p.Arg49Trp MS/MS F 1 1 1 1 1 French
Riazuddin et al. 2010 G8FZ V:7 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 21 1 0 0 0 0 0 Pakistani
Riazuddin et al. 2010 G8FZ V:5 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 24 1 0 0 0 0 0 Pakistani
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:2 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 10-19 10 1 1 Netherland
Riazuddin et al. 2010 G8FZ V:10 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF F 10-19 16 1 0 0 0 0 0 Pakistani
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 10-19 17 1 1 Netherland
Riazuddin et al. 2010 G8FZ V:1 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 29 1 0 0 0 0 0 Pakistani
Schaefer et al. 2011(b) JZRL V.31 BBS6 c.110A>G/c.890T>C p.Tyr37Cys/p.Ile297Thr MS/MS F 1 0 1 1 1 French
Phelps et al. 2017 MI6E UW282-4 BBS14
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 1 0 0 0 European
Phelps et al. 2017 MI6E UW282-3 BBS14
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 1 0 1 0 European
Phelps et al. 2017 SWCP UW263-3 BBS14 1 0 1 0 European
Phelps et al. 2017 7J4Q UW259-3 BBS14
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 0 0 0 0 European
Phelps et al. 2017 80NL UW244-4 BBS14 1 0 1 1 European
Phelps et al. 2017 80NL UW244-3 BBS14 1 0 1 0 European
Phelps et al. 2017 HKJC UW220-3 BBS14 1 0 0 0 European
Phelps et al. 2017 5LKL UW112-4 BBS20
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 0 0 1 1 European
Phelps et al. 2017 5LKL UW112-3 BBS20 1 0 1 1 European
Phelps et al. 2017 6S11 UW045-4 BBS14 0 0 1 0 European
Phelps et al. 2017 6S11 UW045-3 BBS14 0 0 0 0 European
Phelps et al. 2017 MDPS UW013-4 BBS14 1 0 0 0 European
Phelps et al. 2017 MDPS UW013-3 BBS14
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 1 0 0 0 European
Otto et al. 2010 IDME SS23/A1365_22 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Otto et al. 2010 IDME SS23/A1365_21 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion