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
Billingsley et al. 2010 PXHX 65y BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
[]
 M 20-39 27 1 1 1 1 1 0 0 1 South African Black
Gerth et al. 2008 TM2Q 2213 BBS10 p.Cys91Trp/p.Val707*fs*1 MS/cLOF F 10-19 14 1 1 1 1 0 1 Canada
Billingsley et al. 2010 PXHX 66y BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
[]
 M 10-19 10 1 1 1 1 1 0 1 1 South African Black
Gerth et al. 2008 IT83 2294 BBS10 p.Cys91fs*5/p.Arg103fs*8 cLOF/cLOF F 10-19 16 1 1 1 1 0 1 Canada
Billingsley et al. 2010 6XEU 79z BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS F 10-19 18 1 1 0 0 0 British
Gerth et al. 2008 OZTA 2296 BBS10 p.Cys91Trp/p.Ala474fs*10 MS/cLOF M 10-19 12 1 1 1 1 0 1 Canada
Billingsley et al. 2010 6XEU 80z BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS
[]
 F 10-19 15 1 1 1 0 0 British
Gerth et al. 2008 OZTA 2621 BBS10 p.Cys91Trp/p.Ala474fs*10 MS/cLOF M 10-19 14 1 1 0 1 0 Canada
Branfield Day et al. 2015 NA 1 BBS10 F 10-19 15,2 1 1 1 NA
Branfield Day et al. 2015 NA 2 BBS10 F 10-19 14,4 1 1 1 NA
Branfield Day et al. 2015 NA 7 BBS10 F 10-19 16 1 0 0 NA
Branfield Day et al. 2015 NA 16 BBS10 F 20-39 20,3 1 1 0 British
Branfield Day et al. 2015 NA 17 BBS10 F 20-39 22,3 1 1 1 British/Irish
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
Harville et al. 2010 2CSL A2020-II1 BBS10 c.530A>G/c.530A>G p.Tyr177Cys/p.Tyr177Cys MS/MS 1 1 1 1 1 0 Turkish
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
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
Hjortshoj et al. 2010 MIU3 P14 BBS10 p.Cys91Trpfs*5/p.Cys91Trpfs*5 cLOF/cLOF
[]
 F 0-9 8 1 1 1 1 1 Scandinavian
Hjortshoj et al. 2010 VNHI P41 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS
[]
 M 0-9 7 1 1 1 1 1 1 1 Scandinavian
Hjortshoj et al. 2010 58IU P47 BBS10 p.Cys91Trpfs*5/p.Gln623* cLOF/cLOF
[]
 M 0-9 9 1 1 1 0 1 0 Scandinavian
Sathya Priya et al. 2015 FXNB BBS-C BBS10 c.1660G>A/c.1660G>A p.Gly401Glu/p.Gly401Glu MS/MS 1 1 1 1 0 1 Indian
Sathya Priya et al. 2015 SREX BBS-F1 BBS10 c.1227delA/c.1227delA p.Gln409Hisfsˆ*22/p.Gln409Hisfsˆ*22 cLOF/cLOF 1 1 1 1 0 Indian