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Nucl. change
Protein change
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Add. mut.
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Notes
Shaheen et al. 2016 QT17 F-25-41 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 RYSZ BBS-F023-A BBS10 c.1889_1893del/c.1889_1893del p.Ser630Asnfs*4/p.Ser630Asnfs*4 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian
Katsanis et al. 2000 0DJ3 AR237 1 BBS6 p.Tyr37Cys/p.Tyr37Cys MS/MS 1 1 1 European/American
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Shaheen et al. 2016 QT17 F-25-42 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 BBRI BBS-F029-A BBS10 c.728_731del/c.728_731del p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF
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 1 1 1 1 1 1 0 0 Saudi Arabian
Katsanis et al. 2000 L1JD AR301 BBS6 p.Tyr58Ala/p.Tyr58Ala MS/MS 1 1 1 0 European/American
Shaheen et al. 2016 QT17 F-25-43 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 0 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 BBRI BBS-F029-B BBS10 c.728_731del/c.728_731del p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF
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 1 1 1 1 1 1 0 0 Saudi Arabian
Deveault et al. 2011 DUAC 30 BBS10 p.Cys91Leufs*5/p.Tyr559* cLOF/cLOF
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 F 20-39 32 1 1 1 1 0 1 1 Irish
Katsanis et al. 2000 SZVU NF-B1 1 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Deveault et al. 2011 V65S 28 BBS10 p.Cys91Leufs*5/p.Val230Phefs*7 cLOF/cLOF F 20-39 24 1 1 1 1 0 1! 1 1 Polish
Katsanis et al. 2000 SZVU NF-B1 2 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Shaheen et al. 2016 DK1A F-4-5 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Katsanis et al. 2000 Y5Z6 NF-B13 1 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Deveault et al. 2011 R7SY 65 BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
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 M 20-39 27 1 1 1 1 1 0 1 1 South African Black/European/Asian
Katsanis et al. 2000 Y5Z6 NF-B13 2 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Shaheen et al. 2016 CNZJ F-73-134 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 Saudi Arabian
Deveault et al. 2011 R7SY 66 BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
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 M 10-19 10 1 1 1 1 1 0 1 1 South African Black/European/Asian
Katsanis et al. 2000 GLPO NF-B3 1 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Shaheen et al. 2016 CNZJ F-73-135 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 Saudi Arabian
Deveault et al. 2011 D90X 60 BBS10 p.Lys188Thr/p.Ala636Val MS/MS
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 F 0-9 6 1 1 1 1 1 1 Turkish
Shaheen et al. 2016 307E F-75-137 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 H4C9 BBS-F024-A BBS2 c.1207C>T/c.1207C>T p.Arg403Cys/p.Arg403Cys MS/MS 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 Q2X4 67 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF F 0-9 7 1 1 1 1 1 1 1 South African Black
Katsanis et al. 2000 H6BV NF-B4 1 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland