Items: 826 - 850 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
Janssen et al. 2011 8Y4G AR707 (A2864) -8 BBS10 c.271_272insT/c.1407T>G p.Cys91fs*5/p.Tyr469* cLOF/cLOF 1 1 1 1 1 1 N. European
Shaheen et al. 2016 7GBT F-15-21 BBS2 c.1015C>T/c.1015C>T p.Arg339*/p.Arg339* cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 F39D F-76-138 BBS9 c.2115+1G>A/c.2115+1G>A p.?/p.? ?/? 1 1 1 Saudi Arabian
Sathya Priya et al. 2015 U9D6 BBS-A BBS4 c.1077-?_1601+?/c.1077-?_1601+? p.?/p.? ?/? 1 0 1 1 0 Indian
Deveault et al. 2011 J5Z0 53 BBS5 c.387-618del232/c.387-618del232 p.?/p.? F 20-39 28 1 1 1 1 1 0 1 Jordanian
Baker et al. 2010 NA NA BBS1 F 10-19 17 0 1 0 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 20-39 24 1 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 10-19 18 1 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 20-39 21 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 M 20-39 27 1 1 1 United Kingdom
Young et al. 1998 VNDY 14 BBS3 M 40+ 51 1 0 1 0 1 Newfoundland
Young et al. 1998 VNDY 15 BBS3 F 40+ 54 1 1 1 Newfoundland
Young et al. 1998 VNDY 22 BBS3 M 20-39 36 1 1 1 0 Newfoundland
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
Ghadami et al. 2000 YCV0 III-10 BBS3 F 40+ 62 1 1 0 0 0 Iranian
Ghadami et al. 2000 YCV0 III-5 BBS3 M 1 0 1 0 Iranian
Ghadami et al. 2000 YCV0 III-9 BBS3 M 1 1 0 Iranian
Ghadami et al. 2000 YCV0 IV-10 BBS3 F 20-39 32 1 1 1 0 0 0 Iranian
Ghadami et al. 2000 YCV0 IV-11 BBS3 F 20-39 30 1 1 1 0 0 0 Iranian
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
Branfield Day et al. 2015 NA 15 BBS1 F 20-39 23 1 1 0 NA
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