Items: 326 - 350 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
Kerr et al. 2015 G3C7 8b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 13 1 1 1 1 1 1! 0 1 French/Canadian
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Kerr et al. 2015 G3C7 9b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 0 0 1 French/Canadian
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Kerr et al. 2015 OVPA 10c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 18 1 1 1 1 0 1 1 German/Italian
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Kerr et al. 2015 OVPA 11c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 20-39 20 1 1! 1 1! 0 1 1 German/Italian
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Kerr et al. 2015 KLK2 22 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF F 10-19 15 1 1 0 1 Canadian
Kerr et al. 2015 ZRXG 13 BBS2 p.Tyr24*/p.Arg703* cLOF/cLOF F 20-39 28 1 1 1 1! 0 1 Polish
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Kerr et al. 2015 Q5T5 21 BBS21 p.Lys102*/p.Lys102* cLOF/cLOF F 10-19 16 1 1 0 0 Canadian
Kerr et al. 2015 8WRO 14d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF F 10-19 18 1 1 1 1 0 0 1 1! 1 Iraqi
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Kerr et al. 2015 8WRO 15d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF M 10-19 16 1 1 1 1 0 0 1 0 1 Iraqi
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Kerr et al. 2015 D9ZV 16 BBS6 p.Cys99Arg/p.Cys99Arg MS/MS M 20-39 24 1 1 1 0 1 1 1 0 Portugese
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Kerr et al. 2015 RYP1 17 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS F 0-9 7 1 1 1 0 1! 1 0 Arabica
Kerr et al. 2015 ARZ9 18 BBS7 p.Arg238Glufs*59/p.Ser374* cLOF/cLOF F 10-19 18 1 1 1 1! 1 1 1 1 Peruvian/Spanish
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Kerr et al. 2015 YWXA 19e BBS8 c.IVS2+1A/c.IVS2+1A splice/splice cLOF/cLOF F 10-19 17 1 1 1 1! 0 1 Pakistani
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Kerr et al. 2015 YWXA 20e BBS8 c.IVS2+1A/c.IVS2+1A splice/splice cLOF/cLOF F 10-19 19 1 1 1 1 0 0 1 1 Pakistani
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Katsanis et al. 2001 QDX9 AR029² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 European/American
Katsanis et al. 2001 4RJW AR171² BBS2 p.Asp104Ala/p.Arg634Pro MS/MS 1 1 1 0 0 European/American
Katsanis et al. 2001 ZH2A AR241\ BBS2 p.Arg315Gln/p.Arg315Gln MS/MS
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 1 1 1 1 0 European/American
Katsanis et al. 2001 VLFH AR259§\ BBS2 p.Tyr24*/p.Gln59* cLOF/cLOF
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 1 1 1 1 0 European/American
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
Katsanis et al. 2001 IV3A K059² BBS2 p.Arg315Trp/p.Arg315Trp MS/MS
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 1 1 1 1 1 1 NA
Katsanis et al. 2001 NITU NFB14§ BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF
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 1 1 1 1 1 1 Newfoundland
Katsanis et al. 2001 9JDZ PB005² BBS2 p.Arg275*/p.Arg275* cLOF/cLOF 1 1 1 1 1 European/American
Katsanis et al. 2001 Z6T8 PB020² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 European/American
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
Katsanis et al. 2001 WIEN PB043\ BBS2 p.Thr560Ile/p.Thr560Ile MS/MS
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 0 1 1 0 1 European/American