Items: 126 - 150 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
Young et al. 1998 VNDY 24 BBS3 F 20-39 22 1 1 1 0 1 1 Newfoundland
Katsanis et al. 2001 VLFH AR259§\ BBS2 p.Tyr24*/p.Gln59* cLOF/cLOF
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 1 1 1 1 0 European/American
Janssen et al. 2011 VL78 A2296 0 BBS2 c.823C>T/c.823C>T p.Arg275*/p.Arg275* cLOF/cLOF 0 1 1 1 USA
M'hamdi et al. 2013 VK14 BBS-F01-A BBS1 c.1473+4A>G/c.1473+4A>G splice/splice cLOF/cLOF F 0-9 5 1 1 1 0 1 0 Tunisian
Pereiro et al. 2010 VJ0Y M250 II.3 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Pereiro et al. 2010 VJ0Y M250 II.6 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Ece Solmaz et al. 2015 VITC 10 BBS2 c.263delG/c.263delG p.Gly88Alafs*6/p.Gly88Alafs*6 cLOF/cLOF 0-9 8 1 1 1 1 1 1 1 0 1 Turkish
Yamamura et al. 2017 V9I3 patient 1 BBS16 c.845_848delTTTG/c.845_848delTTTG fs/fs cLOF/cLOF F 0-9 3 1 0 0 1 1 Japanese
Fattahi et al. 2014 V7JY 41931 BBS9 c.263+1G>A/c.263+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 Iranian
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
Ajmal et al. 2013 V4HF Family B IV:3 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS M 1 1 1 1 0 0 0 1 Pakistani
Ajmal et al. 2013 V4HF Family B IV:5 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS F 1 1 1 1 0 0 1 0 0 Pakistani
Schaefer et al. 2011(a) V42F AR37-02 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF M 20-39 27 1 1 0 1 0 USA
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Schaefer et al. 2011(a) V42F AR37-05 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF M 20-39 22 1 1 0 1 1 0 USA
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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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Badano et al. 2003 V1PO PB009-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 20-39 32 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-04 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 M 20-39 35 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-05 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 0 Northern European
Shaheen et al. 2016 UY8C F-20-29 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
Shaheen et al. 2016 UY8C F-20-30 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2017 UY2P Case 3 BBS2 c.1932T>A/c.1932T>A p.Tyr644*/p.Tyr644* cLOF/cLOF M 0-9 6 1 1 1 0 0 Spanish
Aldahmesh et al. 2014 UUT5 BBS_DG1a BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS F 1 1 0 1 1 1 Saudi Arabian
Aldahmesh et al. 2014 UUT5 BBS_DG1b BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS M 1 1 1 1 1 0 1 Saudi Arabian
Alazami et al. 2012 UKL9 JS_F11 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF F 1 0 1 0 0 1 Saudi Arabian
Deveault et al. 2011 UHVP 123 BBS2 p.Lys39Lys (splice)/p.Arg324* cLOF/cLOF M 20-39 23 1 1 1 0 0 0 1 Caucasian
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