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Notes
Janssen et al. 2011 F9UG AR124 (A2832) -3 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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Janssen et al. 2011 F9UG AR124 (A2832)-4 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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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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Riise et al. 2002 7ZYG IV-2 BBS4 2bp insertion in exon 8/2bp insertion in exon 8 fs/fs cLOF/cLOF M 10-19 16 1 1 1 0 1 Scandinavian
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Riise et al. 2002 DLS1 IX-1 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 30 1 1 1 0 1 0 Scandinavian
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Riise et al. 2002 DLS1 IX-2 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 32 1 1 1 0 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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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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Schaefer et al. 2011(a) V42F AR37-02 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF M 20-39 27 1 1 0 1 0 USA
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Schaefer et al. 2011(a) V42F AR37-05 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF M 20-39 22 1 1 0 1 1 0 USA
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Schaefer et al. 2011(a) V42F AR37-07 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF F 10-19 11 1 1 0 1 1 1 USA
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Lindstrand et al. 2016 GW00 AR888-03 BBS1 c.1645G>T/deletion of exons 1-11 p.Glu549*/deletion of exons 1-11 cLOF/cLOF
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 M 0-9 4 1 1 1 1 1 1 Latino
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Lindstrand et al. 2016 I6N5 RC2-03 BBS2 c.367A>G/c.367A>G p.Ile123Val/p.Ile123Val MS/MS
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 M 0-9 6 1 0 1 1 1 1 Latino
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Lindstrand et al. 2016 2JO8 44/3 BBS7 c.87_88delCA/c.87_88delCA p.His29Glnfs*12/p.His29Glnfs*12 cLOF/cLOF
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 M 1 1 1 1 1 1 Israel
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Janssen et al. 2011 WN8I AR724 (A2866) -5 BBS2 c.175C>T/c.72C>G p.Gln59*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 N. European
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Katsanis et al. 2000 0DJ3 AR237 1 BBS6 p.Tyr37Cys/p.Tyr37Cys MS/MS 1 1 1 European/American
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Deveault et al. 2011 UAMN 50 BBS5 p.Gly72Ser/p.Gly72Ser MS/MS M 10-19 16 1 1 1 1! 1 0 1 1 Somalian
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Deveault et al. 2011 81EN 71 BBS8 p.Gly162fs*4/p.Ile334fs*1 cLOF/cLOF M 40+ 44 1 1 1 1 1! 1 1 1 Mexican
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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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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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Kerr et al. 2015 03JU 1 BBS1 p.Ile330Thr/p.Arg483* MS/cLOF
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 F 20-39 23 1 1 1 1! 0 1 1 1 Polish
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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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Kerr et al. 2015 1GW6 3a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF F 20-39 32 1 1 1 0 0 0 1 English/Irish/Scotish
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Kerr et al. 2015 1GW6 4a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF
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 M 20-39 30 1 1 1 0 0 1! 0 English/Irish/Scotish
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Kerr et al. 2015 IC89 6 BBS10 p.Cys91Leufs*5/p.Glu104Lysfs*7 cLOF/cLOF F 20-39 22 1 1 1 1! 0 1 1! 1 English/Irish/Scottish
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