Items: 476 - 500 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
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Notes
Chaki et al. 2011 KYJJ F700-24 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 1 1 0 NA
Chaki et al. 2011 KYJJ F700-26 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 1 1 0 NA
Chaki et al. 2011 P927 F89-21 BBS14 c.5515_5518del4/c.5649_5650insA p.Glu1843fs*7/p.Leu1883fs*24 cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 Y3MD F944-31 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 Y3MD F944-32 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 WB7H A1365-21 BBS16 c.1420del1/c.1420del1 p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 WB7H A1365-22 BBS16 c.1420del2/c.1420del2 p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 ITBC A2290-21 BBS16 c.1068+1G>A/c.1068+1G>A splice/splice cLOF/cLOF 1 1! 1 0 NA
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
Iannaccone et al. 2005 M1KN pat1 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF M 20-39 28 1 1 0 0 1 0 Italian
Iannaccone et al. 2005 M1KN pat2 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF F 20-39 22 1 1 1 1 0 1 Italian
Iannaccone et al. 2005 M1KN pat3 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF M 20-39 27 1 1 0 0 1 1 0 Italian
Innes et al. 2010 KVYU P1 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 10-19 19 1 1 1 0 1 1 1 Hutterite
Innes et al. 2010 BF8A P2 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 0-9 0,5 1 1 1 Hutterite
Innes et al. 2010 HFPV P3 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 0-9 6 1 1 1 Hutterite
Iurian et al. 2015 X6V2 C.V.N BBS12 c.1063C>T/c.1063C>T p.Arg355*/p.Arg355* cLOF/cLOF M 0-9 5 month 0 1 1 1 1 1 Romanian
Janssen et al. 2011 K1J5 AR122 (A2831)d -4 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 0 1 1 1 N. European