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Source ID
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Protein change
TOM
Add. mut.
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Age
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Notes
Schaefer et al. 2011(a) DRXS I.2.23 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF F 10-19 14 1 1 0 1 1 French
Abu-Safieh et al. 2012 INBL BBS-F012-B BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Deveault et al. 2011 O815 81 BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF F 10-19 17 1 1 1 0 0 1 1 0 NA
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) DRXS I.2.24 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 0-9 8 1 0 0 1 1 French
Abu-Safieh et al. 2012 INBL BBS-F012-C BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Deveault et al. 2011 1RCS 62 BBS2 p.Tyr317Cys/p.Tyr317Cys MS/MS M 20-39 20 1 1 1 0 0 1 1 Somalian
Schaefer et al. 2011(a) DRXS I.2.25 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 20-39 31 1 1 0 1 1 1 French
Abu-Safieh et al. 2012 Z3OQ BBS-F015-A BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 0 0 0 0 0 0 Saudi Arabian
Deveault et al. 2011 J5Z0 53 BBS5 c.387-618del232/c.387-618del232 p.?/p.? F 20-39 28 1 1 1 1 1 0 1 Jordanian
Kerr et al. 2015 Q5T5 21 BBS21 p.Lys102*/p.Lys102* cLOF/cLOF F 10-19 16 1 1 0 0 Canadian
Schaefer et al. 2011(a) KHCD II.22.21 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF M 10-19 19 1 1 0 1 1 1 French
Abu-Safieh et al. 2012 Z3OQ BBS-F015-B BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
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
Abu-Safieh et al. 2012 Z3OQ BBS-F015-C BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 0 0 0 0 0 0 Saudi Arabian
Deveault et al. 2011 WE5M 76 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS M 0-9 8 1 1 1 1 Arabica
Schaefer et al. 2011(a) ILMO II.30 BBS16 c.1120C>T/c.1120C>T p.Arg374*/p.Arg374* cLOF/cLOF F 0-9 6 1 1 0 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
Deveault et al. 2011 5J36 46 BBS6 p.Phe94Serfs*9/p.Phe94Serfs*9 cLOF/cLOF M 10-19 18 1 1 1 1 0 1 1 1 1 Newfoundland
Schaefer et al. 2011(b) QIBS I.10 BBS10 c.271_272insT/c.1091delA p.Cys91Leufs*5/p.Asn364Thrfs*5 cLOF/cLOF F 1 0 1 1 1 French
Agha et al. 2013 7E5A IV-3 BBS10 c.1958_1967del/c.1958_1967del p.Ser653Ilefs*4/p.Ser653Ilefs*4 cLOF/cLOF M 0-9 4 1 1 1 1 Pakistani
Deveault et al. 2011 DSU0 72 BBS6 p.Pro299Leu/p.Pro299Leu MS/MS F 10-19 13 1 1 1 0 1 1 0 1 French/Canadian
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
Schaefer et al. 2011(b) ESHT II.6 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF F 1 1 1 1 1 French
Ajmal et al. 2013 8PK6 Family A IV:4 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF F 1 1 1 1 0 0 0 0 1 Pakistani