Items: 676 - 700 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
Sathya Priya et al. 2015 MAED BBS-J BBS12 c.704C>G/c.704C>G p.Pro108Arg/p.Pro108Arg MS/MS 1 1 1 0 0 1 Indian
Bennouna-Greene et al. 2011 4HTC 01.05.07 BBS2 p.Pro134fs*67/p.Leu209fs*21 cLOF/cLOF M 20-39 27 1 1 1 French
Marion et al. 2012 CPKG BBE93 BBS17 c.402-406d/c.402-406d p.Pro136Thrfs*/p.Pro136Thrfs* cLOF/cLOF M 10-19 10 1 1 1 1 1 1 0 0 1 Algerian
Scheidecker et al. 2015 0AUW Case2 BBS12 p.Pro159Leu/p.Ile346Thr MS/MS M 40+ 45 1 1 1 1 0 1 French
Bennouna-Greene et al. 2011 JF1V 06.03.09 BBS12 p.Pro195Leu/p.Ile346Thr MS/MS M 20-39 37 1 1 1 French
Janssen et al. 2011 OTUQ A3185 0 BBS10 c.687delA/c.271_272insT p.Pro229fs*8/p.Cys91fs*5 cLOF/cLOF 1 1 1 1 1 USA
Fattahi et al. 2014 WNW3 40568 BBS4 c.77_220del/c.77_220del p.Pro27_Ala74del/p.Pro27_Ala74del cLOF/cLOF 1 1 1 1 1 1 Iranian
Deveault et al. 2011 DSU0 72 BBS6 p.Pro299Leu/p.Pro299Leu MS/MS F 10-19 13 1 1 1 0 1 1 0 1 French/Canadian
Esposito et al. 2017 QAAA P.8a BBS2 c.84delC/c.1059dupT p.Pro29Argfs*50/p.Asn354* cLOF/cLOF
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 1 1 1 Italian
Shaheen et al. 2016 ZN58 F-42-67 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-68 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-69 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-70 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-71 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 HF1E BBS-F022-A BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 0 1 0 0 Saudi Arabian
Aldahmesh et al. 2014 3LKE BBS_DG9a BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS M 1 1 1 1 1 0 0 0 Saudi Arabian
Aldahmesh et al. 2014 3LKE BBS_DG9b BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS M 1 1 1 1 1 0 0 0 Saudi Arabian
Khan et al. 2016 (b) OZLS IV-4 BBS9 c.299delC/c.299delC p.Ser100Leufs*24/p.Ser100Leufs*24 cLOF/cLOF M 20-39 20 1 1 1 1 0 1 0 0 1 Pakistani
Khan et al. 2016 (b) OZLS Iv-5 BBS9 c.299delC/c.299delC p.Ser100Leufs*24/p.Ser100Leufs*24 cLOF/cLOF F 10-19 18 1 1 1 1 0 1 0 1 Pakistani
Abu-Safieh et al. 2012 8HPX BBS-F003-A BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS
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 1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-B BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-C BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 0 0 0 0 0 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-D BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS
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 1 1 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-E BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 Saudi Arabian
Ece Solmaz et al. 2015 WBR2 1 BBS10 c.931T>G/c.931T>G p.Ser311Ala/p.Ser311Ala MS/MS 10-19 16 1 0 1 1 1 0 1 0 1 Turkish