Items: 576 - 600 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 2 BBS10 F 10-19 14,4 1 1 1 NA
Branfield Day et al. 2015 NA 7 BBS10 F 10-19 16 1 0 0 NA
Branfield Day et al. 2015 NA 16 BBS10 F 20-39 20,3 1 1 0 British
Branfield Day et al. 2015 NA 17 BBS10 F 20-39 22,3 1 1 1 British/Irish
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 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
Branfield Day et al. 2015 NA 12 BBS9 F 20-39 23,8 1 1 1 NA
Branfield Day et al. 2015 NA 13 BBS9 F 20-39 20,9 1 1 0 NA
Braun et al. 2014 NA 4 BBS1 F 40+ 44 1 1 French
Qi et al. 2017 TTDR BBS6 c.1175C>T/c.1192C>T p.Thr392Met/p.Gln398* MS/cLOF
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 F 10-19 10 1 0 1 1 1 Chinese
Braun et al. 2014 NA 7 BBS1 F 20-39 27 0 0 French
Rahner et al. 2016 TUBA II.1 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 20-39 20 1 0 1 0 0 Moroccan
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
Braun et al. 2014 NA 8 BBS10 F 20-39 20 1 1 French
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
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
Braun et al. 2014 NA 20 BBS10 F 20-39 27 1 1 French
Braun et al. 2014 NA 18 BBS12 F 20-39 22 1 1 French
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