Items: 676 - 700 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
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
Hjortshoj et al. 2009 Q90P FO-01 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 23 1 1 0 Faroe Islands
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
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
Braun et al. 2014 NA 20 BBS10 F 20-39 27 1 1 French
Hjortshoj et al. 2009 Z6Q4 FO-03 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 29 1 1 1 Faroe Islands
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
Braun et al. 2014 NA 18 BBS12 F 20-39 22 1 1 French
Hjortshoj et al. 2009 Z6Q4 FO-04 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 30 1 1 0 1 Faroe Islands
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
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
Braun et al. 2014 NA 16 BBS3 M 10-19 18 1 0 French
Hjortshoj et al. 2009 F6WQ FO-06 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF F 20-39 20 1 1 1 1 1 Faroe Islands
Braun et al. 2014 NA 1 BBS4 F 20-39 26 1 1 French
Hjortshoj et al. 2009 XLU7 FO-07 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 0-9 4 1 1 1 0 Faroe Islands
Braun et al. 2014 NA 9 BBS5 M 20-39 24 1 0 French
Hjortshoj et al. 2009 JLFX FO-08 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 Faroe Islands
Braun et al. 2014 NA 10 BBS5 M 20-39 39 1 0 French
Hjortshoj et al. 2009 4LAO FO-09 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 0 Faroe Islands
Braun et al. 2014 NA 14 BBS9 M 20-39 27 1 0 French
Hjortshoj et al. 2009 H5EH FO-10 BBS1 c.1091+3G>C/ splice/p.Met390Arg cLOF/MS M 20-39 31 1 0 1 0 Faroe Islands