Items: 826 - 850 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
Billingsley et al. 2010 F7X3 2x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 24 1 0 1 0 0 0 1 1 Egyptian
Billingsley et al. 2010 F7X3 3x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 22 1 1 1 0 1 0 1 1 Egyptian
Ghadami et al. 2000 YCV0 IV-14 BBS3 M 10-19 18 1 1 1 0 0 0 Iranian
González‐del Pozo et al. 2013 7KIL II:4 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS
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 M 1 1 1 1 0 1 0 0 Spanish
González‐del Pozo et al. 2013 7KIL II:5 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS M 1 1 1 1 0 0 0 0 Spanish
Branfield Day et al. 2015 NA 18 BBS10 M 10-19 18,2 1 1 0 German
Branfield Day et al. 2015 NA 21 BBS10 M 10-19 19,9 1 1 0 German
Branfield Day et al. 2015 NA 10 BBS4 M 10-19 15,6 1 0 0 Iraqi
Branfield Day et al. 2015 NA 19 BBS6 M 20-39 22,2 1 1 1 NA
Branfield Day et al. 2015 NA 20 BBS6 M 20-39 22,4 1 0 0 Portugese
Braun et al. 2014 NA 2 BBS1 M 10-19 17 1 1 French
Braun et al. 2014 NA 3 BBS1 M 20-39 24 1 1 French
Braun et al. 2014 NA 5 BBS1 M 20-39 23 0 1 French
Braun et al. 2014 NA 6 BBS1 M 20-39 27 1 1 French
Braun et al. 2014 NA 13 BBS1 M 20-39 22 0 0 French
Reiner et al. 2018 XDWM Patient BBS9 deletion of exons 1-4/deletion of exons 1-4 cLOF/cLOF M 0-9 1 1 1 0 0 0 1 Guyanese
Braun et al. 2014 NA 11 BBS10 M 20-39 37 1 0 French
Riazuddin et al. 2010 G8FZ V:1 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 29 1 0 0 0 0 0 Pakistani
Braun et al. 2014 NA 17 BBS10 M 20-39 25 1 0 French
Riazuddin et al. 2010 G8FZ V:5 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 24 1 0 0 0 0 0 Pakistani
Riazuddin et al. 2010 G8FZ V:7 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 21 1 0 0 0 0 0 Pakistani
Braun et al. 2014 NA 19 BBS12 M 20-39 39 1 1 French
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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Riise et al. 2002 DLS1 IX-1 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 30 1 1 1 0 1 0 Scandinavian
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