Items: 101 - 125 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
Hjortshoj et al. 2010 XKZA P57 BBS2 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF
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 M 0-9 1 1 1 1 1 1 0 Scandinavian
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
Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
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 F 10-19 19 1 1 1 1 1 Scandinavian
Kerr et al. 2015 1GW6 4a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF
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 M 20-39 30 1 1 1 0 0 1! 0 English/Irish/Scotish
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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 75UO 17 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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 F 0-9 7 1 1 1 1 Denea
Deveault et al. 2011 75UO 15 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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 M 10-19 17 1 1 1 1 1 1 1 Denea
Deveault et al. 2011 75UO 82 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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 M 20-39 22 1 1 1 1 1 1 Denea
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
Billingsley et al. 2010 PXHX 66y 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
Hjortshoj et al. 2010 W986 P1 BBS2 p.Phe221fs*25/p.Phe221fs*25 cLOF/cLOF
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 F 0-9 6 1 1 1 0 0 Scandinavian
Deveault et al. 2011 F2VY 47 BBS1 p.Ile296Thrfs*7/p.Ile296Thrfs*7 cLOF/cLOF
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 F 0-9 9 1 1 1 0 1 1 1 Pakistani
Kerr et al. 2015 KV2V 2 BBS1 p.Met242Argfs*83/p.Met390Arg cLOF/MS
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 F 20-39 29 1 1 1 1 0 0 0 1 English/Scottish/German/Iceland
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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
Katsanis et al. 2001 XLCX PB026² BBS2 p.Asp170fs*2/p.Asp170fs*2 cLOF/cLOF
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 1 1 1 1 1 European/American
Castro-Sanchez et al. 2015 LX4R GBB23 (2128)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 40+ 51 1 1 1 1 1 1 Spanish
Davies et al. 2018 VQKL BBS007 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Janssen et al. 2011 8Y4G AR707 (A2864)-9 BBS10 c.271_272insT/c.1407T>G p.Cys91fs*5/p.Tyr469* cLOF/cLOF 1 1 1 0 1 N. European
Shaheen et al. 2016 7GBT F-15-22 BBS2 c.1015C>T/c.1015C>T p.Arg339*/p.Arg339* cLOF/cLOF 1 1 1 1 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-1 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 25 1 0 0 0 0 0 0 0 Saudi Arabian
Davies et al. 2018 XSEE BBS008 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 1 1 0 0 0 White European
Janssen et al. 2011 ZIWZ AR880 (A2881) -4 BBS10 c.271_272insT/c.271_272insT p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF 1 1 1 0 0 N. European
Shaheen et al. 2016 QHSP F-16-23 BBS2 c.806T>G/c.806T>G p.Val269Gly/p.Val269Gly MS/MS 1 1 1 1 1 1 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-2 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 30 1 0 0 0 0 0 0 0 Saudi Arabian
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