Items: 1 - 25 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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REN
HRT
LIV
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Notes
Laurier et al. 2006 00OK A2 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 50 1 1 1 1 Lebanese
Laurier et al. 2006 00OK A3 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 47 1 1 1 1 1 Lebanese
Laurier et al. 2006 00OK B4 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 20-39 22 1 1 1 1 Lebanese
Laurier et al. 2006 00OK B5 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS M 20-39 33 1 1 1 1 Lebanese
Laurier et al. 2006 00OK E1 BBS10 p.Ser311Ala/p.Val11Gly MS/MS M 40+ 70 1 1 1 0 0 Lebanese
Laurier et al. 2006 00OK D4 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 20-39 23 1 1 1 1 0 Lebanese
Laurier et al. 2006 00OK D5 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 10-19 18 1 1 1 1 0 Lebanese
Shaheen et al. 2016 02YS F-33-57 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 0 Saudi Arabian
Kerr et al. 2015 03JU 1 BBS1 p.Ile330Thr/p.Arg483* MS/cLOF
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 F 20-39 23 1 1 1 1! 0 1 1 1 Polish
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Shaheen et al. 2016 063P F-50-92 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 09XV F-81-143 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 09XV F-81-144 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 09XV F-81-145 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
Scheidecker et al. 2015 0AUW Case2 BBS12 p.Pro159Leu/p.Ile346Thr MS/MS M 40+ 45 1 1 1 1 0 1 French
Katsanis et al. 2000 0DJ3 AR237 1 BBS6 p.Tyr37Cys/p.Tyr37Cys MS/MS 1 1 1 European/American
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Davies et al. 2018 0EMR BBS012 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF F 40+ 50-59 1 1 0 1 0 0 0 White European
Scheidecker et al. 2015 0FX4 Case4 BBS1 p.Met390Arg/p.Gly318Valfs*61 MS/cLOF M 20-39 27 1 0 1 1 0 0 French
Ece Solmaz et al. 2015 0GHE 12 BBS10 c.1547delC/c.1547delC p.Thr516Asnfs*8/p.Thr516Asnfs*8 cLOF/cLOF 0-9 6 1 1 1 1 1 1 0 1 1 Turkish
Esposito et al. 2017 0HCQ P.5 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 Italian
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 10-19 17 1 1 Netherland
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:2 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 10-19 10 1 1 Netherland
Pereiro et al. 2010 0KMP M446 II.1 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 0 0 Caucasian
Pereiro et al. 2010 0KMP M446 II.2 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 1 0 Caucasian
Deveault et al. 2011 0MN1 2 BBS12 p.Val400Met/p.Arg674Cys MS/MS
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 M 20-39 27 1 1 1 0 0 0 1 1 Egyptian
Deveault et al. 2011 0MN1 3 BBS12 p.Val400Met/p.Arg674Cys MS/MS
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 M 20-39 25 1 1 1 0 1 0 1 1 Egyptian