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
Bennouna-Greene et al. 2011 OURF 04.02.02 BBS10 p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF F 10-19 16 1 0 French
Maria et al. 2016 MOAU F03 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF F 10-19 15 1 0 1 0 1 0 1 1 Pakistani
Bennouna-Greene et al. 2011 LCQ5 1.12.21 BBS10 p.Cys91fs*5/p.Tyr321* cLOF/cLOF M 20-39 30 1 1 0 French
Young et al. 1998 VNDY 14 BBS3 M 40+ 51 1 0 1 0 1 Newfoundland
M'hamdi et al. 2013 VK14 BBS-F01-A BBS1 c.1473+4A>G/c.1473+4A>G splice/splice cLOF/cLOF F 0-9 5 1 1 1 0 1 0 Tunisian
Young et al. 1998 VNDY 22 BBS3 M 20-39 36 1 1 1 0 Newfoundland
M'hamdi et al. 2013 QUPE BBS-F09-B BBS1 c.1110G>A/c.1110G>A splice/splice cLOF/cLOF F 20-39 29 1 1 1 0 0 0 Tunisian
Young et al. 1998 VNDY 23 BBS3 M 20-39 31 1 1 0 Newfoundland
Young et al. 1998 VNDY 24 BBS3 F 20-39 22 1 1 1 0 1 1 Newfoundland
Bennouna-Greene et al. 2011 4HRZ 1.11.20 BBS6 c.429delCT/c.433delAG p.Asp143fs*6/p.Ser479* cLOF/cLOF M 20-39 24 1 1 0 French
Bennouna-Greene et al. 2011 GRKW 01.08.12 BBS9 p.Arg278*/deletion of exon 9 cLOF/cLOF M 10-19 17 1 1 0 French
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
Gerth et al. 2008 O76S 2512 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 29 1 1 0 0 0 0 Canada
M'hamdi et al. 2013 5XR9 BBS-F03-A BBS4 deletion of exons 4-6/deletion of exons 4-6 cLOF/cLOF
[]
 F 0-9 4,5 1 1 1 0 1 0 Tunisian
Billingsley et al. 2010 6XEU 79z BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS F 10-19 18 1 1 0 0 0 British
M'hamdi et al. 2013 UH14 BBS-F14-A BBS8 c.459+1G>A/c.459+1G>A splice/splice cLOF/cLOF M 0-9 4 1 1 1 0 1 1 Tunisian
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
Ghadami et al. 2000 YCV0 IV-10 BBS3 F 20-39 32 1 1 1 0 0 0 Iranian
Billingsley et al. 2010 F7X3 3x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 22 1 1 1 0 1 0 1 1 Egyptian
Ghadami et al. 2000 YCV0 IV-11 BBS3 F 20-39 30 1 1 1 0 0 0 Iranian
Billingsley et al. 2010 3PNW 56{ BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 10-19 15 1 1 1 0 1 0 Pakistani
Ghadami et al. 2000 YCV0 IV-14 BBS3 M 10-19 18 1 1 1 0 0 0 Iranian
Ghadami et al. 2000 YCV0 IV-9 BBS3 F 20-39 33 1 1 1 0 0 1 Iranian
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
Harville et al. 2010 CCK1 A2876-II1(AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 0 0 0 1 0 1 Europe