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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
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Age
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PD
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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
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
Abu-Safieh et al. 2012 Y63A BBS-F032-A BBS13 Exon1loss/ loss of exon 1/loss of exon 1 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Katsanis et al. 2000 GLPO NF-B3 2 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 0 1 Newfoundland
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
Shaheen et al. 2016 ZE22 F-8-13 BBS5 c.1A>T/c.1A>T start codon defect/start codon defect cLOF/cLOF 1 1 1 Saudi Arabian
Deveault et al. 2011 GB4U 64 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 South African Black
Katsanis et al. 2000 H6BV NF-B4 2 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Shaheen et al. 2016 D9R5 F-28-48 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-B BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 ERE3 68 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 10-19 13 1 1 1 1 1! 0 0 1 South African Black
Katsanis et al. 2000 RAHD NF-B5 BBS6 p.Leu277Pro/p.Phe94fs*10 MS/cLOF 1 1 1 1 Newfoundland
Shaheen et al. 2016 D9R5 F-28-49 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-C BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 0 0 0 0 0 1 Saudi Arabian
Deveault et al. 2011 HX4N 70 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 10-19 17 1 1 1 1 1! 1 1 1 South African Black/European/Asian
Katsanis et al. 2001 QDX9 AR029² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 European/American
Shaheen et al. 2016 D9R5 F-28-50 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 Saudi Arabian
Deveault et al. 2011 FKM6 138 BBS10 c.197+1G>T/ splice/p.Leu600Ser cLOF/MS M 10-19 14 1 0 1 0 0 1 Mexican/Norwegian/Danish
Katsanis et al. 2001 4RJW AR171² BBS2 p.Asp104Ala/p.Arg634Pro MS/MS 1 1 1 0 0 European/American
Shaheen et al. 2016 3TCL F-29-51 BBS6 c.830T>C/c.830T>C p.Leu277Pro/p.Leu277Pro MS/MS 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-E BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 Saudi Arabian
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