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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
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PD
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Notes
Lindstrand et al. 2014 2JO8 44/4 BBS7 c.87_88delCA/c.87_88delCA p.His29Glnfs*12/p.His29Glnfs*12 cLOF/cLOF
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 1 1 1 0 1 Israel
Badano et al. 2003 8BCA PB061-03 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF F 20-39 20 0 0 0 Northern European
Lindstrand et al. 2016 48D6 AR240-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 20-39 21 1 1 1 1 0 0 NA
Ullah et al. 2017 VYZR B V-1 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 0-9 6 1 1 1 0 Pakistani
Badano et al. 2003 8BCA PB061-04 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF M 10-19 18 1 1 1 Northern European
Baker et al. 2010 NA NA BBS1 F 10-19 17 0 1 0 1 United Kingdom
Lindstrand et al. 2016 272G AR380-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 0-9 9 1 1 1 1 0 0 NA
Baker et al. 2010 NA NA BBS1 F 20-39 24 1 1 1 United Kingdom
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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Ullah et al. 2017 D8UI C IV-6 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS F 10-19 10 1 1 1 1 0 Pakistani
Baker et al. 2010 NA NA BBS1 F 10-19 18 1 1 1 United Kingdom
Lindstrand et al. 2016 KOBZ AR883-04 BBS10 c.2119_2120delGT/c.2118_2119delTG p.Val707*/p.Val707fs* cLOF/cLOF
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 M 0-9 4 1 1 1 1 1 NA
Baker et al. 2010 NA NA BBS1 F 20-39 21 1 1 United Kingdom
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 10-19 17 1 1 Netherland
Baker et al. 2010 NA NA BBS1 M 20-39 27 1 1 1 United Kingdom
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:2 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 10-19 10 1 1 Netherland
Bee et al. 2015 PTO2 II:2 BBS2 c.1864C>T/c.1932T>A p.Arg622*/p.Tyr644* cLOF/cLOF F 20-39 37 1 1 1 1 1 Malay
Fan et al. 2004 GC3Y PID 22 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 42 1 1 0 0 Newfoundland
Lindstrand et al. 2016 FQTJ DM034-004 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 10 1 1 1 0 1 0 NA
Bennouna-Greene et al. 2011 NX9Z 01.02.03 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 53 1 1 0 French
Bennouna-Greene et al. 2011 GIZN 01.03.04 BBS1 p.Met390Arg/p.Glu384* MS/cLOF F 20-39 28 1 1 0 French
Lindstrand et al. 2016 MJ9E AR400-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF F 10-19 11 1 1 1 1 1 NA
Bennouna-Greene et al. 2011 I8TW 01.07.10 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 21 0 0 0 French
Bennouna-Greene et al. 2011 I8TW 01.07.15 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 18 0 1 0 French
Fattahi et al. 2014 LJ5D 37709 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 0 1 1 0 1 Iranian