Items: 101 - 125 from 899
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Nucl. change
Protein change
TOM
Add. mut.
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Age
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PD
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Notes
Abu-Safieh et al. 2012 Q9A6 BBS-F005-A BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 1 0 1 0 Saudi Arabian
Deveault et al. 2011 14M0 77 BBS2 p.Gly81Cys/p.Cys307Trp MS/MS M 20-39 31 1 1 1 1 1 0 1 Caucasian
Abu-Safieh et al. 2012 Q9A6 BBS-F005-B BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 14M0 78 BBS2 p.Gly81Cys/p.Cys307Trp MS/MS M 20-39 29 1 1 1 1 1 0 1 1 Caucasian
Shin et al. 2015 50Z6 II:1 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 28 1 1 0 1 0 1 1 0 1 Korean
Abu-Safieh et al. 2012 H25T BBS-F013-A BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
[]
 1 1 1 1 1 1 0 0 Saudi Arabian
Kerr et al. 2015 IULP 5 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 13 1 1 1 1 Canadian
Shin et al. 2015 50Z6 II:2 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 26 1 1 0 1 0 1 1 0 1 Korean
Abu-Safieh et al. 2012 PQKI BBS-F017-A BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 75UO 15 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
[]
 M 10-19 17 1 1 1 1 1 1 1 Denea
Abu-Safieh et al. 2012 A60R BBS-F031-A BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF
[]
 1 1 1 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 75UO 16 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 20-39 30 1 1 1 1 0 Denea
Abu-Safieh et al. 2012 JMQS BBS-F030-A BBS5 c.158C>T/c.158C>T p.Thr53Ile/p.Thr53Ile MS/MS
[]
 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 75UO 18 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 40+ 43 1 1 1 1 1 1 Denea
Abu-Safieh et al. 2012 ZLPD BBS-F019-A BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
[]
 1 1 1 1 1 1 0 Saudi Arabian
Kerr et al. 2015 G3C7 8b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 13 1 1 1 1 1 1! 0 1 French/Canadian
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Schaefer et al. 2011(a) V42F AR37-07 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF F 10-19 11 1 1 0 1 1 1 USA
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Abu-Safieh et al. 2012 ZLPD BBS-F019-B BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
[]
 1 1 1 1 1 1 0 Saudi Arabian
Deveault et al. 2011 NZLP 130 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 0-9 0 1 1 1 Lebanese
Kerr et al. 2015 OVPA 10c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 18 1 1 1 1 0 1 1 German/Italian
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Abu-Safieh et al. 2012 INBL BBS-F012-A BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 1 0 0 Saudi Arabian
Deveault et al. 2011 NZLP 142 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 10-19 11 1 1 1 1 1 1 1 Lebanese
Abu-Safieh et al. 2012 INBL BBS-F012-B BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Kerr et al. 2015 KLK2 22 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF F 10-19 15 1 1 0 1 Canadian
Abu-Safieh et al. 2012 INBL BBS-F012-C BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
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