Items: 126 - 150 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
Castro-Sanchez et al. 2015 WICN M63 (1081)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 38 1 1 0 1 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 WICN M63 (1078)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 M 40+ 41 1 1 1 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 DJ2Y M622-(708)§ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 73 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 DJ2Y M622-(192)§ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 93 1 0 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 H8IH M499-(4994)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 57 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 H8IH M499-(4993)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 73 1 1 0 0 Spanish
Pereiro et al. 2010 0KMP M446 II.2 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 1 0 Caucasian
Pereiro et al. 2010 0KMP M446 II.1 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 0 0 Caucasian
Castro-Sanchez et al. 2015 T2D0 M333-(826) BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF F 20-39 37 1 1 0 1 1 0 0 Spanish
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
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
Pereiro et al. 2010 VJ0Y M250 II.6 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Pereiro et al. 2010 VJ0Y M250 II.3 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Castro-Sanchez et al. 2015 Y7RJ M129-(1519)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 61 1 1 0 1 1 0 Spanish
Castro-Sanchez et al. 2015 Y7RJ M129-(1518)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 64 1 1 0 1 1 0 1 0 Spanish
Leitch et al. 2008 VPTU L398-03 BBS10 p.Ser73fs*19/p.Ser73fs*19 cLOF/cLOF
[]
 M 0-9 9 1 1 1 1 1 0 1 Lebanese
Leitch et al. 2008 IVV9 KK51-04 BBS14 p.Glu1903*/p.Glu1903* cLOF/cLOF
[]
 F 10-19 11 1 1 0 1 1 0 1 Saudi Arabian
Janssen et al. 2011 4PPS KK44 (A2884) -8 BBS4 c.IVS3-2A>G/c.IVS3-2A>G splice/splice cLOF/cLOF 1 1 1 1 Saudi Arabian
Leitch et al. 2008 7AAP KK20-04 BBS9 c.2804G>A/c.2804G>A splice/splice cLOF/cLOF
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 M 0-9 5 1 1 1 1 1 1 0 1 Saudi Arabian
Lindstrand et al. 2016 ZFSG KK11-04 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 17 1 1 1 1 1 Saudi Arabian
Lindstrand et al. 2016 C6Y3 KK047-05 BBS2 deletion of exons 8-15/deletion of exons 8-15 cLOF/cLOF M 0-9 9 1 1 1 1 1 NA
Abu Safieh et al. 2010 W01J KFSH-FD001-4 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS M 20-39 22 1 0 0 0 0 0 0 0 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-3 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 27 1 0 0 0 0 0 0 0 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-2 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 30 1 0 0 0 0 0 0 0 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-1 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 25 1 0 0 0 0 0 0 0 Saudi Arabian
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