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Add. mut.
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Notes
Yoon et al. 2014 J447 brother BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 0-9 6,5 1 1 0 1 1 Korean
Bennouna-Greene et al. 2011 NK6A 1.10.19 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 34 1 1 1 French
Maria et al. 2016 AHHU F04 IV:2 BBS9 c.1789C>T/c.1789C>T p.Gln597*/p.Gln597* cLOF/cLOF M 10-19 15 1 1 1 1 1 1 1 Pakistani
Yoon et al. 2014 J447 case BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 10-19 17,5 1 1 1 1 1 0 Korean
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
Marion et al. 2012 CPKG BBE93 BBS17 c.402-406d/c.402-406d p.Pro136Thrfs*/p.Pro136Thrfs* cLOF/cLOF M 10-19 10 1 1 1 1 1 1 0 0 1 Algerian
Bennouna-Greene et al. 2011 BJT1 01.04.05 BBS12 p.Arg355*/p.Arg355* cLOF/cLOF M 20-39 23 0 1 1 French
M'hamdi et al. 2013 VK14 BBS-F01-A BBS1 c.1473+4A>G/c.1473+4A>G splice/splice cLOF/cLOF F 0-9 5 1 1 1 0 1 0 Tunisian
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
M'hamdi et al. 2013 QUPE BBS-F09-A BBS1 c.1110G>A/c.1110G>A splice/splice cLOF/cLOF F 20-39 21 1 1 0 1 0 0 Tunisian
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
M'hamdi et al. 2013 QUPE BBS-F09-B BBS1 c.1110G>A/c.1110G>A splice/splice cLOF/cLOF F 20-39 29 1 1 1 0 0 0 Tunisian
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
M'hamdi et al. 2013 H2VL BBS-F11-A BBS1 c.448C>T/c.448C>T p.Arg146*/p.Arg146* cLOF/cLOF F 20-39 32 1 1 0 1 1 Tunisian
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
M'hamdi et al. 2013 H2VL BBS-F11-B BBS1 c.448C>T/c.448C>T p.Arg146*/p.Arg146* cLOF/cLOF F 40+ 40 1 1 0 1 0 Tunisian
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
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
M'hamdi et al. 2013 7H0X BBS-F12-B BBS1 c.39delA/c.39delA p.Ala14Leufs*28/p.Ala14Leufs*28 cLOF/cLOF
[]
 M 0-9 4 1 1 1 1 1 1 Tunisian
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