Items: 676 - 700 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
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 0P3E BBS-F08-B BBS10 c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC p.Ser396Leufs*6/p.Ser396Leufs*6 cLOF/cLOF
[]
 F 10-19 11 1 1 0 1 1 1 Tunisian
Gerth et al. 2008 OZTA 2621 BBS10 p.Cys91Trp/p.Ala474fs*10 MS/cLOF M 10-19 14 1 1 0 1 0 Canada
Ghadami et al. 2000 YCV0 III-10 BBS3 F 40+ 62 1 1 0 0 0 Iranian
Ghadami et al. 2000 YCV0 III-9 BBS3 M 1 1 0 Iranian
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
Billingsley et al. 2012 MESS 59 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF 10-19 13 1 1 0 1! 0 1 1 1 1 East Indian
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
Pereiro et al. 2010 0KMP M446 II.1 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 0 0 Caucasian
Phelps et al. 2017 MDPS UW013-3 BBS14
[]
 1 0 0 0 European
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
Phelps et al. 2017 6S11 UW045-4 BBS14 0 0 1 0 European
Phelps et al. 2017 HKJC UW220-3 BBS14 1 0 0 0 European
Phelps et al. 2017 80NL UW244-3 BBS14 1 0 1 0 European
Phelps et al. 2017 80NL UW244-4 BBS14 1 0 1 1 European
Phelps et al. 2017 7J4Q UW259-3 BBS14
[]
 0 0 0 0 European
Phelps et al. 2017 SWCP UW263-3 BBS14 1 0 1 0 European
Phelps et al. 2017 MI6E UW282-3 BBS14
[]
 1 0 1 0 European
Phelps et al. 2017 MI6E UW282-4 BBS14
[]
 1 0 0 0 European
Phelps et al. 2017 5LKL UW112-3 BBS20 1 0 1 1 European
Phelps et al. 2017 5LKL UW112-4 BBS20
[]
 0 0 1 1 European
Hjortshoj et al. 2009 Q90P FO-01 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 23 1 1 0 Faroe Islands
Riazuddin et al. 2010 G8FZ V:1 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 29 1 0 0 0 0 0 Pakistani
Riazuddin et al. 2010 G8FZ V:10 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF F 10-19 16 1 0 0 0 0 0 Pakistani