Items: 301 - 325 from 899
CSV export Reset filters
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 13 BBS9 F 20-39 20,9 1 1 0 NA
Phelps et al. 2017 SWCP UW263-3 BBS14 1 0 1 0 European
Braun et al. 2014 NA 2 BBS1 M 10-19 17 1 1 French
Phelps et al. 2017 MI6E UW282-3 BBS14
[]
 1 0 1 0 European
Braun et al. 2014 NA 3 BBS1 M 20-39 24 1 1 French
Harville et al. 2010 WDU9 A2875-II2 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 Europe
Phelps et al. 2017 MI6E UW282-4 BBS14
[]
 1 0 0 0 European
Braun et al. 2014 NA 4 BBS1 F 40+ 44 1 1 French
Harville et al. 2010 6FMK A2889-II1 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 0 Israel Arab
Phelps et al. 2017 5LKL UW112-3 BBS20 1 0 1 1 European
Braun et al. 2014 NA 5 BBS1 M 20-39 23 0 1 French
Harville et al. 2010 6FMK A2889-II2 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 1 1 Israel Arab
Phelps et al. 2017 5LKL UW112-4 BBS20
[]
 0 0 1 1 European
Braun et al. 2014 NA 6 BBS1 M 20-39 27 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
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
Braun et al. 2014 NA 13 BBS1 M 20-39 22 0 0 French
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
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
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