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Nucl. change
Protein change
TOM
Add. mut.
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Notes
Yang et al. 2008 TD84 IV:2 BBS7 c.1666A>G/c.1666A>G p.Ser556Arg/p.Ser556Arg MS/MS M 20-39 37 1 1 1 1 1 1 1 Chinese
Bennouna-Greene et al. 2011 2FSK 04.01.01 BBS10 p.Arg49Trp/p.Leu414Ser MS/MS M 10-19 19 1 0 0 French
Fattahi et al. 2014 4CJ1 34792 BBS9 c.1789+1G>A/c.1789+1G>A splice/splice cLOF/cLOF 1 1 1 0 1 0 1 Iranian
Yang et al. 2008 TD84 IV:4 BBS7 c.1666A>G/c.1666A>G p.Ser556Arg/p.Ser556Arg MS/MS M 20-39 32 1 1 1 1 1 1 1 Chinese
Bennouna-Greene et al. 2011 OURF 04.02.02 BBS10 p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF F 10-19 16 1 0 French
Fattahi et al. 2014 V7JY 41931 BBS9 c.263+1G>A/c.263+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 Iranian
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
Fedick et al. 2013 6RJ4 1 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS M 1 1 Ashkenazi Jewish
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
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
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
Fedick et al. 2013 PZIT 4 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
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