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Add. mut.
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Notes
Fedick et al. 2013 6RJ4 1 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS M 1 1 Ashkenazi Jewish
Bennouna-Greene et al. 2011 LCQ5 1.12.21 BBS10 p.Cys91fs*5/p.Tyr321* cLOF/cLOF M 20-39 30 1 1 0 French
Fedick et al. 2013 2S6X 2 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS F 1 1 Ashkenazi Jewish
Young et al. 1998 VNDY 14 BBS3 M 40+ 51 1 0 1 0 1 Newfoundland
Bennouna-Greene et al. 2011 BJT1 01.04.05 BBS12 p.Arg355*/p.Arg355* cLOF/cLOF M 20-39 23 0 1 1 French
Fedick et al. 2013 PZIT 3 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
Young et al. 1998 VNDY 15 BBS3 F 40+ 54 1 1 1 Newfoundland
Bennouna-Greene et al. 2011 JF1V 06.03.09 BBS12 p.Pro195Leu/p.Ile346Thr MS/MS M 20-39 37 1 1 1 French
Fedick et al. 2013 PZIT 4 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
Young et al. 1998 VNDY 22 BBS3 M 20-39 36 1 1 1 0 Newfoundland
Bennouna-Greene et al. 2011 9SFS 1.13.22 BBS12 p.Tyr257fs*10/p.Tyr257fs*10 cLOF/cLOF M 10-19 19 1 1 1 French
Frank et al. 2007 0ZHU 850 BBS13 c.262-37_179del/c.262-37_179del splice/splice cLOF/cLOF
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 1 1 1 Turkish
Young et al. 1998 VNDY 23 BBS3 M 20-39 31 1 1 0 Newfoundland
Bennouna-Greene et al. 2011 4HTC 01.05.07 BBS2 p.Pro134fs*67/p.Leu209fs*21 cLOF/cLOF M 20-39 27 1 1 1 French
Frank et al. 2007 JF8N 937 BBS13 c.1407+2delT/c.1407+2delT splice/splice cLOF/cLOF 1 1 1 Turkish
Young et al. 1998 VNDY 24 BBS3 F 20-39 22 1 1 1 0 1 1 Newfoundland
Bennouna-Greene et al. 2011 4HRZ 1.11.20 BBS6 c.429delCT/c.433delAG p.Asp143fs*6/p.Ser479* cLOF/cLOF M 20-39 24 1 1 0 French
Frank et al. 2007 NP9T 943 BBS13 c.1408-7_35del/c.417G>A p.Glu139Glu (splice)/p.Glu139Glu (splice) cLOF/cLOF 1 1 1 German
Bennouna-Greene et al. 2011 GRKW 01.08.12 BBS9 p.Arg278*/deletion of exon 9 cLOF/cLOF M 10-19 17 1 1 0 French
Frank et al. 2007 D3OF 951 BBS13 c.515+1G>A/c.515+1G>A splice/splice cLOF/cLOF 1 1 1 Kuwait
Bennouna-Greene et al. 2011 42P3 1.14.23 BBS9 deletion of exons 8 and 9/deletion of exons 8 and 9 cLOF/cLOF M 20-39 22 0 1 1 French
Gerth et al. 2008 QWKB 2293 BBS1 p.Met390Arg/p.Asn524del MS/MS M 20-39 21 1 1 0 0 1 Canada
Gerth et al. 2008 BBNF 2301 BBS1 p.Asp8Asp (splice)/p.Arg483* cLOF/cLOF F 10-19 16 1 1 1 1 1 1 Canada
Gerth et al. 2008 O76S 2512 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 29 1 1 0 0 0 0 Canada
Billingsley et al. 2010 PXHX 60yy BBS10 p.Lys188Thr/p.Ala636Val MS/MS
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 F 0-9 6 1 0 1 1 1 0 1 Turkish