Items: 701 - 725 from 899
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Source
Family
Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Billingsley et al. 2010 PXHX 65y BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
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 M 20-39 27 1 1 1 1 1 0 0 1 South African Black
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 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 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
Deveault et al. 2011 1RCS 62 BBS2 p.Tyr317Cys/p.Tyr317Cys MS/MS M 20-39 20 1 1 1 0 0 1 1 Somalian
Billingsley et al. 2010 PXHX 60yy BBS10 p.Lys188Thr/p.Ala636Val MS/MS
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 F 0-9 6 1 0 1 1 1 0 1 Turkish
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
Estrada-Cuzcano et al. 2012 (a) 1NLX 6/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 0 0 0 0 0 French
Kerr et al. 2015 IC89 6 BBS10 p.Cys91Leufs*5/p.Glu104Lysfs*7 cLOF/cLOF F 20-39 22 1 1 1 1! 0 1 1! 1 English/Irish/Scottish
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Ece Solmaz et al. 2015 AYQT 6 BBS4 c.406-2A>G/c.406-2A>G splice/splice cLOF/cLOF 0-9 8 1 1 0 1 0 0 0 0 1 Turkish
Branfield Day et al. 2015 NA 6 BBS8 F 10-19 15,4 1 0 1 NA
Braun et al. 2014 NA 6 BBS1 M 20-39 27 1 1 French
Billingsley et al. 2012 MESS 59 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF 10-19 13 1 1 0 1! 0 1 1 1 1 East Indian
Deveault et al. 2011 NAUR 57 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 32 1 1 1 0 1 0 1 1 Croatian
Billingsley et al. 2010 3PNW 56{ BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 10-19 15 1 1 1 0 1 0 Pakistani
Deveault et al. 2011 NF8Q 56 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 10-19 15 1 1 1 0 1 Pakistani
Billingsley et al. 2010 CE16 55* BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 16 1 1 1 0 0 1 0 1 German/Italian
Deveault et al. 2011 J5Z0 53 BBS5 c.387-618del232/c.387-618del232 p.?/p.? F 20-39 28 1 1 1 1 1 0 1 Jordanian
Deveault et al. 2011 TGKV 52 BBS12 p.Ser35*/p.Ser35* cLOF/cLOF
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 M 10-19 19 1 1 1 1 0 0 0 1 Mexican
Deveault et al. 2011 UAMN 50 BBS5 p.Gly72Ser/p.Gly72Ser MS/MS M 10-19 16 1 1 1 1! 1 0 1 1 Somalian
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Estrada-Cuzcano et al. 2012 (a) AR9W 5/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 0 0 0 0 0 Canadian
Kerr et al. 2015 IULP 5 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 13 1 1 1 1 Canadian
Deveault et al. 2011 IXHU 5 BBS7 /IVS6+2T>C p.Gly63Arg/splice MS/cLOF M 20-39 33 1 1 1 1 1 1 1 1 Italian
Ece Solmaz et al. 2015 9PAP 5 BBS1 c.1012C>T/c.1012C>T p.Gln338*/p.Gln338* cLOF/cLOF 20-39 20 1 1 1 1 1 1 0 1 1 Turkish
Suzuki et al. 2016 DZJM 5 BBS14 c.214G>T/c.6012-12T>A p.Glu72*/splice cLOF/cLOF 1 0 1 1 0 1 Japanese