Items: 751 - 775 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
Billingsley et al. 2012 MESS 40 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF
[]
 10-19 16 1 1 0 1 0 1 0 0 1 East Indian
Branfield Day et al. 2015 NA 15 BBS1 F 20-39 23 1 1 0 NA
Pawlik et al. 2010 RNS3 IV-2 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 30 1 0 1 0 0 0 0 0 0 Pakistani
Branfield Day et al. 2015 NA 7 BBS10 F 10-19 16 1 0 0 NA
Pawlik et al. 2010 RNS3 IV-3 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 27 1 0 1 0 0 0 0 0 0 Pakistani
Branfield Day et al. 2015 NA 16 BBS10 F 20-39 20,3 1 1 0 British
Pawlik et al. 2010 RNS3 IV-9 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 10-19 19 1 0 1 0 0 0 0 0 0 Pakistani
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
Branfield Day et al. 2015 NA 3 BBS16 F 10-19 17,9 1 1 0 Indian
Branfield Day et al. 2015 NA 8 BBS4 F 10-19 15,1 1 1 0 French
Branfield Day et al. 2015 NA 10 BBS4 M 10-19 15,6 1 0 0 Iraqi
Phelps et al. 2017 MDPS UW013-3 BBS14
[]
 1 0 0 0 European
Branfield Day et al. 2015 NA 11 BBS4 F 10-19 18 1 0 0 Iraqi
Phelps et al. 2017 MDPS UW013-4 BBS14 1 0 0 0 European
Phelps et al. 2017 6S11 UW045-3 BBS14 0 0 0 0 European
Branfield Day et al. 2015 NA 20 BBS6 M 20-39 22,4 1 0 0 Portugese
Phelps et al. 2017 6S11 UW045-4 BBS14 0 0 1 0 European
Branfield Day et al. 2015 NA 14 BBS7 F 10-19 18,1 1 1 0 Peruvian
Phelps et al. 2017 HKJC UW220-3 BBS14 1 0 0 0 European
Branfield Day et al. 2015 NA 5 BBS8 F 10-19 14,6 1 0 0 Pakistani
Phelps et al. 2017 80NL UW244-3 BBS14 1 0 1 0 European
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