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
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REN
HRT
LIV
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Notes
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
Shaheen et al. 2016 UY8C F-20-29 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 ORRW GBB1 (100) BBS10 p.Tyr559fs*17/p.Tyr559fs*17 cLOF/cLOF F 20-39 33 1 1 1 1 1 1 Spanish
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
Shaheen et al. 2016 UY8C F-20-30 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 DJNC GBB16 (3775)‡ BBS10 p.Cys91fs*4/p.Tyr503fs*17 cLOF/cLOF M 0-9 9 1 1 1 1 1 1 0 1 Spanish
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
Castro-Sanchez et al. 2015 DJNC GBB16 (4038)‡ BBS10 p.Cys91fs*4/p.Tyr503fs*17 cLOF/cLOF M 0-9 7 1 1 1 1 1 1 Spanish
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
Castro-Sanchez et al. 2015 E7CP GBB19 (I) BBS10 p.Cys91fs*4/p.Leu414Ser cLOF/MS M 20-39 20 1 1 1 0 0 Spanish
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
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
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
Castro-Sanchez et al. 2015 4SJL 81 BBS12 p.Leu88Arg/p.Asn461Lysfs*10 MS/cLOF F 10-19 14 1 1 1 0 1 1 0 1 1! Spanish
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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
Castro-Sanchez et al. 2015 NKMZ 164 BBS12 p.Gly539Asp/p.Pro632Phefs*7 MS/cLOF M 40+ 50 1 1 1 1 1! 1 0 1 1! Spanish
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