Items: 376 - 400 from 899
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Source
Family
Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Branfield Day et al. 2015 NA 3 BBS16 F 10-19 17,9 1 1 0 Indian
Branfield Day et al. 2015 NA 4 BBS16 F 10-19 14,6 1 1 1 Indian
Branfield Day et al. 2015 NA 9 BBS2 F 10-19 14,3 1 1 1 NA
Branfield Day et al. 2015 NA 8 BBS4 F 10-19 15,1 1 1 0 French
Branfield Day et al. 2015 NA 10 BBS4 M 10-19 15,6 1 0 0 Iraqi
Branfield Day et al. 2015 NA 11 BBS4 F 10-19 18 1 0 0 Iraqi
Branfield Day et al. 2015 NA 14 BBS7 F 10-19 18,1 1 1 0 Peruvian
Branfield Day et al. 2015 NA 5 BBS8 F 10-19 14,6 1 0 0 Pakistani
Branfield Day et al. 2015 NA 6 BBS8 F 10-19 15,4 1 0 1 NA
Braun et al. 2014 NA 2 BBS1 M 10-19 17 1 1 French
Qi et al. 2017 TTDR BBS6 c.1175C>T/c.1192C>T p.Thr392Met/p.Gln398* MS/cLOF
[]
 F 10-19 10 1 0 1 1 1 Chinese
Rahner et al. 2016 TUBA II.3 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 10-19 15 1 0 1 0 0 Moroccan
Heon et al. 2016 XN45 BBS21 c.304A>T/c.304A>T p.Lys102*/p.Lys102* cLOF/cLOF
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 F 10-19 12 1 1 1 1 1 1 1 Caucasian
Hjortshoj et al. 2009 PT3J FO-02 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 10-19 17 1 1 1 1 0 Faroe Islands
Riazuddin et al. 2010 G8FZ V:10 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF F 10-19 16 1 0 0 0 0 0 Pakistani
Hjortshoj et al. 2009 GHP7 FO-05 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF F 10-19 18 1 1 0 1 1 Faroe Islands
Riise et al. 2002 7ZYG IV-1 BBS4 2bp insertion in exon 8/2bp insertion in exon 8 fs/fs cLOF/cLOF F 10-19 13 1 1 1 0 Scandinavian
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Braun et al. 2014 NA 16 BBS3 M 10-19 18 1 0 French
Riise et al. 2002 7ZYG IV-2 BBS4 2bp insertion in exon 8/2bp insertion in exon 8 fs/fs cLOF/cLOF M 10-19 16 1 1 1 0 1 Scandinavian
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Bujakowska et al. 2015 ARFT Family 1, II.1 BBS20 c.1525-1G>A/c.4701C>A splice/p.His1567Gln cLOF/MS 10-19 15 1 1 1 0 1 White European
Hjortshoj et al. 2010 QC14 P42 BBS2 p.Arg216*/p.Tyr24* cLOF/cLOF
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 M 10-19 10 1 1 1 1 0 0 Scandinavian
Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
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 F 10-19 19 1 1 1 1 1 Scandinavian
Castro-Sanchez et al. 2015 M6S4 GBB27 (I)‡ BBS1 p.Met390Arg/p.His504fs*48 MS/cLOF M 10-19 17 1 1 0 1 0 0 0 Spanish
Hulleman et al. 2016 E4HN ID SIO101 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS M 10-19 18 1 0 1 0 0 0 0 0 India
Hulleman et al. 2016 E4HN ID SIO102 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS F 10-19 13 1 0 1 0 0 0 0 0 India