Items: 276 - 300 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
Phelps et al. 2017 80NL UW244-3 BBS14 1 0 1 0 European
Branfield Day et al. 2015 NA 6 BBS8 F 10-19 15,4 1 0 1 NA
Phelps et al. 2017 80NL UW244-4 BBS14 1 0 1 1 European
Branfield Day et al. 2015 NA 12 BBS9 F 20-39 23,8 1 1 1 NA
Phelps et al. 2017 7J4Q UW259-3 BBS14
[]
 0 0 0 0 European
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
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
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
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
Braun et al. 2014 NA 7 BBS1 F 20-39 27 0 0 French
Braun et al. 2014 NA 13 BBS1 M 20-39 22 0 0 French
Braun et al. 2014 NA 8 BBS10 F 20-39 20 1 1 French
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
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