Items: 876 - 899 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
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Age
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HRT
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Notes
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 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
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
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
Shaheen et al. 2016 TFZC F-9-14 BBS12 c.2041_2049del/c.2041_2049del p.Leu682_Leu684del/p.Leu682_Leu684del MS/MS 1 1 1 Saudi Arabian
Shaheen et al. 2016 0OE4 F-109 175 BBS13 c.1126dupA/c.1126dupA p.Thr376Asnfs*3/p.Thr376Asnfs*3 cLOF/cLOF 1 1 Saudi Arabian
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
Shaheen et al. 2016 RPFV F-130 196 BBS13 c.1066C>T/c.1066C>T p.Gln356*/p.Gln356* cLOF/cLOF 1 1 Saudi Arabian
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
Shaheen et al. 2016 A73A F-92 156 BBS13 c.1126dupA/c.1126dupA p.Thr376Asnfs*3/p.Thr376Asnfs*3 cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 AYAU F-122 188 BBS14 c.3190del/c.3190del p.Met1064*/p.Met1064* cLOF/cLOF 1 Saudi Arabian
Shaheen et al. 2016 42YK F-155 223 BBS14 c.4714G>T/c.4714G>T p.Glu1572*/p.Glu1572* cLOF/cLOF 1 0 1 Saudi Arabian
Shaheen et al. 2016 P78N F-162 233 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 E36R F-171 244 BBS14 c.5824C>T/c.5824C>T p.Gln1942*/p.Gln1942* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 0YU0 F-172 245 BBS14 c.5704G>T/c.5704G>T p.Glu1902*/p.Glu1902* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 0YU0 F-172 246 BBS14 c.5704G>T/c.5704G>T p.Glu1902*/p.Glu1902* cLOF/cLOF 1 Saudi Arabian
Shaheen et al. 2016 OPSI F-179 254 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 INH9 F-192 275 BBS14 c.4811G>A/c.4811G>A p.Trp1604*/p.Trp1604* cLOF/cLOF 1 0 1 Saudi Arabian
Shaheen et al. 2016 M87Y F-198 281 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian