Items: 26 - 50 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
Shaheen et al. 2016 GQ1Q F-74-136 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 Saudi Arabian
Deveault et al. 2011 0ZCC 8 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 21 1 0 1 1 0 0 1 1 Polish
Shaheen et al. 2016 D0IN F-77-139 BBS4 c.172C>T/c.172C>T p.Gln58*/p.Gln58* cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Deveault et al. 2011 9QNU 63 BBS10 p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF
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 M 10-19 17 1 1 1 1 1 0 1 1 Irish/English/German/Norwegian
Shaheen et al. 2016 3MZE F-2-2 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
Deveault et al. 2011 FHPR 83 BBS10 p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 40+ 43 1 1 1 1 0 1 1 1 Danish/Dutch/Norwegian
Shaheen et al. 2016 3MZE F-2-3 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
Deveault et al. 2011 7233 74 BBS10 p.Cys91Leufs*5/p.Leu414Ser cLOF/MS M 10-19 18 1 1 1 0 1 0 1 British/Canadian/French/German
Deveault et al. 2011 DUAC 30 BBS10 p.Cys91Leufs*5/p.Tyr559* cLOF/cLOF
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 F 20-39 32 1 1 1 1 0 1 1 Irish
Shaheen et al. 2016 5UL5 F-32-56 BBS5 c.955_957del/c.955_957del p.Glu319del/p.Glu319del MS/MS 1 1 1 1 1 Saudi Arabian
Deveault et al. 2011 V65S 28 BBS10 p.Cys91Leufs*5/p.Val230Phefs*7 cLOF/cLOF F 20-39 24 1 1 1 1 0 1! 1 1 Polish
Deveault et al. 2011 QGOK 10 BBS10 p.Cys91Trp/p.Val707*fs*1 MS/cLOF
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 F 10-19 17 1 1 1 1! 1! 1 1 English/Irish
Deveault et al. 2011 R7SY 65 BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
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 M 20-39 27 1 1 1 1 1 0 1 1 South African Black/European/Asian
Deveault et al. 2011 R7SY 66 BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
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 M 10-19 10 1 1 1 1 1 0 1 1 South African Black/European/Asian
Deveault et al. 2011 D90X 60 BBS10 p.Lys188Thr/p.Ala636Val MS/MS
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 F 0-9 6 1 1 1 1 1 1 Turkish
Deveault et al. 2011 Q2X4 67 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF F 0-9 7 1 1 1 1 1 1 1 South African Black
Deveault et al. 2011 GB4U 64 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 South African Black
Deveault et al. 2011 ERE3 68 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 10-19 13 1 1 1 1 1! 0 0 1 South African Black
Deveault et al. 2011 HX4N 70 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 10-19 17 1 1 1 1 1! 1 1 1 South African Black/European/Asian
Katsanis et al. 2001 QDX9 AR029² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 European/American
Deveault et al. 2011 FKM6 138 BBS10 c.197+1G>T/ splice/p.Leu600Ser cLOF/MS M 10-19 14 1 0 1 0 0 1 Mexican/Norwegian/Danish
Deveault et al. 2011 GZYP 126 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
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 F 0-9 4 1 1 1 1 Denea
Deveault et al. 2011 GZYP 128 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 10 0 0 1 1 1 Denea
Deveault et al. 2011 NF8Q 24 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 0-9 6 1 1 1 1 1 1 1 Pakistani
Katsanis et al. 2001 8ZLD AR579§ BBS2 p.Leu168fs*3/p.Arg216* cLOF/cLOF
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 1 1 1 1 1 1 European/American