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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
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PD
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Notes
Gerth et al. 2008 TM2Q 2213 BBS10 p.Cys91Trp/p.Val707*fs*1 MS/cLOF F 10-19 14 1 1 1 1 0 1 Canada
Gerth et al. 2008 OZTA 2621 BBS10 p.Cys91Trp/p.Ala474fs*10 MS/cLOF M 10-19 14 1 1 0 1 0 Canada
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. 2017 LDBP Case 2 BBS2 c.565C>T/c.565C>T p.Arg189*/p.Arg189* cLOF/cLOF F 10-19 14 1 1 1 1 1 0 1 Spanish
Branfield Day et al. 2015 NA 9 BBS2 F 10-19 14,3 1 1 1 NA
Branfield Day et al. 2015 NA 2 BBS10 F 10-19 14,4 1 1 1 NA
Branfield Day et al. 2015 NA 4 BBS16 F 10-19 14,6 1 1 1 Indian
Branfield Day et al. 2015 NA 5 BBS8 F 10-19 14,6 1 0 0 Pakistani
Deveault et al. 2011 QJBM 139 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 0 1 1 0 1 Nicaraguan
Deveault et al. 2011 J17C 75 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 1 1 1 NA
Deveault et al. 2011 32AO 80 BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS
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 F 10-19 15 1 1 1 0 0 British
Deveault et al. 2011 NF8Q 56 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 10-19 15 1 1 1 0 1 Pakistani
Kerr et al. 2015 G3C7 7b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 1 French/Canadian
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Kerr et al. 2015 G3C7 9b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 0 0 1 French/Canadian
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Kerr et al. 2015 KLK2 22 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF F 10-19 15 1 1 0 1 Canadian
Schaefer et al. 2011(a) KHCD II.22.22 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF F 10-19 15 1 1 0 1 1 1 French
Agha et al. 2013 7E5A IV-1 BBS10 c.1958_1967del/c.1958_1967del p.Ser653Ilefs*4/p.Ser653Ilefs*4 cLOF/cLOF M 10-19 15 1 1 1 1 1 0 0 1 1 Pakistani
Ece Solmaz et al. 2015 O9MY 7 BBS10 c.1024_1025insA/c.1024_1025insA p.Ile342Asnfs*20/p.Ile342Asnfs*20 cLOF/cLOF 10-19 15 1 1 0 1 1 0 0 0 1 Turkish
Ullah et al. 2017 AFA6 D V-1 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 10-19 15 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 8R4R E IV-4 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF M 10-19 15 1 1 1 1 1 1 Pakistani
Ullah et al. 2017 2AEI A IV-4 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 10-19 15 1 1 1 1 1 0 Pakistani
Lindstrand et al. 2016 1WD9 AR634-04 BBS7 deletion of exons 16-17/p.Gln293Pro cLOF/MS M 10-19 15 1 1 0 1 1 NA
Maria et al. 2016 MOAU F03 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF F 10-19 15 1 0 1 0 1 0 1 1 Pakistani
Maria et al. 2016 AHHU F04 IV:2 BBS9 c.1789C>T/c.1789C>T p.Gln597*/p.Gln597* cLOF/cLOF M 10-19 15 1 1 1 1 1 1 1 Pakistani
M'hamdi et al. 2013 0P3E BBS-F08-A BBS10 c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC p.Ser396Leufs*6/p.Ser396Leufs*6 cLOF/cLOF
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 M 10-19 15 1 1 1 1 1 0 Tunisian