Items: 351 - 375 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
Abu-Safieh et al. 2012 DIFV BBS-F027-B BBS12 c.959T>A/c.959T>A p.Leu320Gln/p.Leu320Gln MS/MS
[]
 1 1 1 0 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 AUFJ BBS-F028-A BBS12 c.1993_1996del/c.1993_1996del p.Val665Leufs*14/p.Val665Leufs*14 cLOF/cLOF
[]
 1 1 1 0 1 0 0 Saudi Arabian
Deveault et al. 2011 GZYP 126 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
[]
 F 0-9 4 1 1 1 1 Denea
Deveault et al. 2011 GZYP 128 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 10 0 0 1 1 1 Denea
Deveault et al. 2011 NF8Q 24 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 0-9 6 1 1 1 1 1 1 1 Pakistani
Deveault et al. 2011 NF8Q 56 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 10-19 15 1 1 1 0 1 Pakistani
Deveault et al. 2011 XBKC 124 BBS12 p.Gln293Glu/p.Phe372*fs*1 MS/cLOF F 40+ 64 1 1 1 0 1 1 0 Caucasian
Deveault et al. 2011 TGKV 52 BBS12 p.Ser35*/p.Ser35* cLOF/cLOF
[]
 M 10-19 19 1 1 1 1 0 0 0 1 Mexican
Deveault et al. 2011 RRKI 127 BBS12 p.Ser578*/p.Ser578* cLOF/cLOF F 10-19 11 1 1 1 1 1 1 1 1 El-Salvadorian
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
Deveault et al. 2011 0MN1 2 BBS12 p.Val400Met/p.Arg674Cys MS/MS
[]
 M 20-39 27 1 1 1 0 0 0 1 1 Egyptian
Deveault et al. 2011 0MN1 3 BBS12 p.Val400Met/p.Arg674Cys MS/MS
[]
 M 20-39 25 1 1 1 0 1 0 1 1 Egyptian
Scheidecker et al. 2015 0AUW Case2 BBS12 p.Pro159Leu/p.Ile346Thr MS/MS M 40+ 45 1 1 1 1 0 1 French
Fattahi et al. 2014 KQKK 35201 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 1 1 1 0 1 1 Iranian
Fattahi et al. 2014 GEMF 36000 BBS12 c.2019del/c.2019del p.Trp673Cysfs*7/p.Trp673Cysfs*7 cLOF/cLOF 1 1 1 0 1 0 Iranian
Fattahi et al. 2014 LJ5D 37709 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 0 1 1 0 1 Iranian
Maria et al. 2016 M2A5 F05 V:2 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS M 20-39 20 1 1 0 1 1 0 Pakistani
Maria et al. 2016 M2A5 F05 V:4 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS F 20-39 25 1 1 0 1 0 Pakistani
Bennouna-Greene et al. 2011 BJT1 01.04.05 BBS12 p.Arg355*/p.Arg355* cLOF/cLOF M 20-39 23 0 1 1 French
Bennouna-Greene et al. 2011 JF1V 06.03.09 BBS12 p.Pro195Leu/p.Ile346Thr MS/MS M 20-39 37 1 1 1 French
Bennouna-Greene et al. 2011 9SFS 1.13.22 BBS12 p.Tyr257fs*10/p.Tyr257fs*10 cLOF/cLOF M 10-19 19 1 1 1 French
Billingsley et al. 2010 YAGJ 126** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
[]
 F 0-9 4 1 1 1 1 Canadian Native Indian
Billingsley et al. 2010 YAGJ 128** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 16 1 1 0 1 Canadian Native Indian
Billingsley et al. 2010 3PNW 24{ BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 0-9 6 1 0 1 1 1 0 1 Pakistani
Billingsley et al. 2010 F7X3 2x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 24 1 0 1 0 0 0 1 1 Egyptian