Items: 826 - 850 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
CI
REP
REN
HRT
LIV
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Notes
Shaheen et al. 2016 SPQD F-37-61 BBS10 c.1892_1896del/c.1892_1896del p.Met631Asnfs*3/p.Met631Asnfs*3 cLOF/cLOF 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 9WGR GBB2 (102) BBS10 p.Tyr559fs*17/p.Tyr559fs*17 cLOF/cLOF M 40+ 46 1 1 1 0 0 0 0 Spanish
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
Shaheen et al. 2016 DVJA F-79-141 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 IJVR GBB36 (I) BBS10 p.Val331Ala/p.Val331Ala MS/MS M 40+ 45 1 1 1 0 1 1 0 Spanish
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
Shaheen et al. 2016 9H7D F-12-18 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 CK6O RP1032 (32)¶ BBS10 p.Gln284*/p.Gln284* cLOF/cLOF F 10-19 15 1 1 1 Spanish
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
Shaheen et al. 2016 N49S F-21-31 BBS12 c.2041_2049del/c.2041_2049del p.Leu682_Leu684del/p.Leu682_Leu684del MS/MS 1 1 1 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 RJRD RP1172 (1416) BBS10 p.Cys91fs*4/p.Glu337del cLOF/MS M 10-19 13 1 0 1 1 1 0 Spanish
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
Shaheen et al. 2016 N49S F-21-32 BBS12 c.2041_2049del/c.2041_2049del p.Leu682_Leu684del/p.Leu682_Leu684del MS/MS 1 1 1 1 1 1 Saudi Arabian
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
Shaheen et al. 2016 6TP3 F-22-33 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 1 Saudi Arabian
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
Shaheen et al. 2016 6TP3 F-22-34 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 0 1 Saudi Arabian
Castro-Sanchez et al. 2015 B2KB GBB35 (I)§ BBS12 p.Gly539Asp/p.Gly539Asp MS/MS F 40+ 49 1 1 1 1 0 1 1 1 1 Spanish
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
Shaheen et al. 2016 6TP3 F-22-35 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 IZKQ GBB4 (107) BBS12 p.Gly361fs*21/p.Thr380fs*2 cLOF/cLOF M 20-39 24 0 1 1 1 1 0 1 1 Spanish
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
Shaheen et al. 2016 6TP3 F-22-36 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 0 1 Saudi Arabian
Castro-Sanchez et al. 2015 9VM7 M250-(127)‡ BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF M 40+ 53 1 1 1 0 1 0 0 Spanish
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