Items: 651 - 675 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
Harville et al. 2010 SRNJ A2005-II1 BBS7 c.688T>C/c.688T>C p.Trp320Arg/p.Trp320Arg MS/MS 0 1 1 1 1 1 Turkish
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
Harville et al. 2010 WDU9 A2875-II1 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 1 1 1 Europe
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
Harville et al. 2010 LOEF A2011-II1 BBS8 c.122G>A/c.122G>A p.Trp41*/p.Trp41* cLOF/cLOF 1 1 1 1 1 0 Turkish
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
Harville et al. 2010 E9UF A2827-II1(AR74) BBS8 c.IVS10+2_4delTGC/c.IVS10+2_4delTGC splice/splice cLOF/cLOF 1 1 1 1 1 1 Pakistani
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
Harville et al. 2010 E9UF A2827-II2 (AR74) BBS8 c.IVS10+2_4delTGC/c.IVS10+2_4delTGC splice/splice cLOF/cLOF 1 1 1 1 1 1 Pakistani
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
[]
 F 10-19 12 1 1 1 1 1 1 1 Caucasian