Items: 176 - 200 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
Braun et al. 2014 NA 11 BBS10 M 20-39 37 1 0 French
Braun et al. 2014 NA 17 BBS10 M 20-39 25 1 0 French
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
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
Braun et al. 2014 NA 1 BBS4 F 20-39 26 1 1 French
Braun et al. 2014 NA 9 BBS5 M 20-39 24 1 0 French
Braun et al. 2014 NA 10 BBS5 M 20-39 39 1 0 French
Braun et al. 2014 NA 14 BBS9 M 20-39 27 1 0 French
Kerr et al. 2015 G3C7 7b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 1 French/Canadian
[]
Kerr et al. 2015 G3C7 8b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 13 1 1 1 1 1 1! 0 1 French/Canadian
[]
Kerr et al. 2015 G3C7 9b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 0 0 1 French/Canadian
[]
Deveault et al. 2011 DSU0 72 BBS6 p.Pro299Leu/p.Pro299Leu MS/MS F 10-19 13 1 1 1 0 1 1 0 1 French/Canadian
Estrada-Cuzcano et al. 2012 (a) 5JXT 14/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 1 0 0 1 0 German
Estrada-Cuzcano et al. 2012 (a) 5ZO2 9/F BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 0 0 1 0 0 0 0 German
Frank et al. 2007 NP9T 943 BBS13 c.1408-7_35del/c.417G>A p.Glu139Glu (splice)/p.Glu139Glu (splice) cLOF/cLOF 1 1 1 German
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
Deveault et al. 2011 NRG3 133 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 21 1 0 1 1 0 1 1 German/Irish/Swedish/Hungarian
Kerr et al. 2015 OVPA 10c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 18 1 1 1 1 0 1 1 German/Italian
[]
Kerr et al. 2015 OVPA 11c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 20-39 20 1 1! 1 1! 0 1 1 German/Italian
[]
Billingsley et al. 2010 CE16 22* BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 14 1 0 1 1 0 1 0 1 German/Italian
Billingsley et al. 2010 CE16 55* BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 16 1 1 1 0 0 1 0 1 German/Italian
Deveault et al. 2011 6HZB 38 BBS12 p.Thr501Met/p.Arg525His MS/MS
[]
 F 0-9 4 1 1 1 1 1 1 1 0 1 Ghanian
1 … 6 7 8 9 10 … 36