Items: 276 - 300 from 899
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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
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Notes
Chaki et al. 2011 E02N AR37-25 BBS16 c.696T>G/c.740+1del1 p.Tyr232* /splice cLOF/cLOF 1 1 0 1 1 0 NA
Chaki et al. 2011 E02N AR37-27 BBS16 c.696T>G/c.740+1del2 p.Tyr232* /splice cLOF/cLOF 1 1 1 1 0 NA
Chaki et al. 2011 H8CI F1054-21 BBS16 c.1796T>G/c.1796T>G p.Leu599* /p.Leu599* cLOF/cLOF F 0 0 1 1 0 NA
Chaki et al. 2011 H8CI F1054-22 BBS16 c.1796T>G/c.1796T>G p.Leu599* /p.Leu599* cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 BHW5 F159-21 BBS16 c.421-?_740+?del/c.421-?_740+?del p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs* cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 BHW5 F159-22 BBS16 c.421-?_740+?del/c.421-?_740+?del p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs* cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 5NJD F195-21 BBS16 c.1946_1949del4/c.1946_1949del4 p.Cys649fs*10/p.Cys649fs*10 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 X52J F336-21 BBS16 c.1339_340insG/c.1339_340insG p.Glu447fs*17/p.Glu447fs*17 cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 X52J F336-22 BBS16 c.1339_340insG/c.1339_340insG p.Glu447fs*17/p.Glu447fs*17 cLOF/cLOF 1 1 1 0 NA
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 VQKL BBS007 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Davies et al. 2018 XSEE BBS008 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 1 1 0 0 0 White European
Davies et al. 2018 N5JK BBS009 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30-39 1 1 1 0 0 0 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 RM0J BBS013 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 20-29 1 1 1 1 1 0 1 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
Davies et al. 2018 AMYR BBS015 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 0 0 1 0 0 White European
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
Davies et al. 2018 GVB4 BBS004 BBS1 p.Met390Arg/splice MS/cLOF M 20-39 20-29 1 1 0 1 0 0 0 White European