Items: 276 - 300 from 899
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
Castro-Sanchez et al. 2015 U7OU RP1011 (1184)§ BBS12 p.Gly540Asp/p.Gly540Asp MS/MS F 40+ 40 1 1 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 JJXV B17 (132)§ BBS6 p.Leu454Pro/p.Leu454Pro MS/MS F 40+ 43 1 1 1 1 0 1 1 Spanish
Castro-Sanchez et al. 2015 POGM M79 (1608)§ BBS6 p.Gly250Arg/p.Gly250Arg MS/MS F 20-39 36 1 1 1 1 1 1 0 Spanish
Cox et al. 2012 AZ4J PT1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 27 1 1 1 1 0 1 USA
Cox et al. 2012 D2VE PT2 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 1 1 0 0 0 USA
Cox et al. 2012 PZDS PT3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 0 0 0 USA
Davies et al. 2018 C4MF BBS001 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 30-39 1 1 0 1 0 0 0 White European
Davies et al. 2018 PAQG BBS002 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 60+ 1 1 1 1 0 0 0 White European
Davies et al. 2018 65XJ BBS003 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Shaheen et al. 2016 XJQC F-27-46 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 XJQC F-27-47 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Davies et al. 2018 RJCD BBS005 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 60+ 1 1 1 0 0 1 0 White European
Davies et al. 2018 YJGI BBS010 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF M 40+ 50-59 1 1 1 1 0 0 0 White European
Davies et al. 2018 YP1P BBS011 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF M 40+ 50-59 1 1 0 1 0 0 0 White European
Davies et al. 2018 0EMR BBS012 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF F 40+ 50-59 1 1 0 1 0 0 0 White European
Davies et al. 2018 X08Z BBS014 BBS1 p.Met390Arg/p.Gly73* MS/cLOF F 20-39 30-39 1 1 1 1 1 1 0 White European
Deveault et al. 2011 JTJM 129 BBS1 p.Met390Arg/splice MS/cLOF M 0-9 9 1 1 1 1 0 1 1 Caucasian
Deveault et al. 2011 QGOK 10 BBS10 p.Cys91Trp/p.Val707*fs*1 MS/cLOF
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F 10-19 17 1 1 1 1! 1! 1 1 English/Irish
Deveault et al. 2011 R7SY 65 BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
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M 20-39 27 1 1 1 1 1 0 1 1 South African Black/European/Asian
Deveault et al. 2011 R7SY 66 BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
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M 10-19 10 1 1 1 1 1 0 1 1 South African Black/European/Asian
Katsanis et al. 2000 RAHD NF-B5 BBS6 p.Leu277Pro/p.Phe94fs*10 MS/cLOF 1 1 1 1 Newfoundland
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
Kerr et al. 2015 03JU 1 BBS1 p.Ile330Thr/p.Arg483* MS/cLOF
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F 20-39 23 1 1 1 1! 0 1 1 1 Polish
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Kerr et al. 2015 1GW6 3a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF F 20-39 32 1 1 1 0 0 0 1 English/Irish/Scotish
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Kerr et al. 2015 1GW6 4a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF
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M 20-39 30 1 1 1 0 0 1! 0 English/Irish/Scotish
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