Items: 526 - 550 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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Notes
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
Shaheen et al. 2016 RSZT F-221 307 BBS10 c.959_962delGTTA/c.959_962delGTTA p.Ser320Ilefs*5/p.Ser320Ilefs*5 cLOF/cLOF 1 1 Saudi Arabian
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
Shaheen et al. 2016 HDIC F-36-60 BBS10 c.931T>G/c.931T>G p.Ser311Ala/p.Ser311Ala MS/MS 1 1 1 1 1 Saudi Arabian
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
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
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
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
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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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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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
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
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
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
Castro-Sanchez et al. 2015 9VM7 M250-(130)‡ BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF M 40+ 46 1 1 1 1 1 1 1 Spanish
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
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