Items: 51 - 75 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
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
Katsanis et al. 2001 ZH2A AR241\ BBS2 p.Arg315Gln/p.Arg315Gln MS/MS
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 1 1 1 1 0 European/American
Deveault et al. 2011 GZYP 128 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 10 0 0 1 1 1 Denea
Katsanis et al. 2001 VLFH AR259§\ BBS2 p.Tyr24*/p.Gln59* cLOF/cLOF
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 1 1 1 1 0 European/American
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
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
Katsanis et al. 2001 IV3A K059² BBS2 p.Arg315Trp/p.Arg315Trp MS/MS
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 1 1 1 1 1 1 NA
Deveault et al. 2011 XBKC 124 BBS12 p.Gln293Glu/p.Phe372*fs*1 MS/cLOF F 40+ 64 1 1 1 0 1 1 0 Caucasian
Katsanis et al. 2001 NITU NFB14§ BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF
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 1 1 1 1 1 1 Newfoundland
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
Katsanis et al. 2001 9JDZ PB005² BBS2 p.Arg275*/p.Arg275* cLOF/cLOF 1 1 1 1 1 European/American
Deveault et al. 2011 RRKI 127 BBS12 p.Ser578*/p.Ser578* cLOF/cLOF F 10-19 11 1 1 1 1 1 1 1 1 El-Salvadorian
Katsanis et al. 2001 Z6T8 PB020² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 European/American
Deveault et al. 2011 6HZB 38 BBS12 p.Thr501Met/p.Arg525His MS/MS
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 F 0-9 4 1 1 1 1 1 1 1 0 1 Ghanian
Katsanis et al. 2001 XLCX PB026² BBS2 p.Asp170fs*2/p.Asp170fs*2 cLOF/cLOF
[]
 1 1 1 1 1 European/American
Deveault et al. 2011 0MN1 2 BBS12 p.Val400Met/p.Arg674Cys MS/MS
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 M 20-39 27 1 1 1 0 0 0 1 1 Egyptian
Katsanis et al. 2001 WIEN PB043\ BBS2 p.Thr560Ile/p.Thr560Ile MS/MS
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 0 1 1 0 1 European/American
Deveault et al. 2011 0MN1 3 BBS12 p.Val400Met/p.Arg674Cys MS/MS
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 M 20-39 25 1 1 1 0 1 0 1 1 Egyptian
Katsanis et al. 2001 H5L1 PB058² BBS2 p.Cys210fs*37/p.Cys210fs*37 cLOF/cLOF 1 1 1 1 1 European/American
Deveault et al. 2011 4P7U 73 BBS2 p.Arg413*/p.Arg413* cLOF/cLOF
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 M 0-9 3 1 1 1 1 1 1 1 Arabica
Katsanis et al. 2001 HYFU AR237 2 BBS6 p.Tyr37Cys/p.Tyr37Cys MS/MS
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 1 1 1 1 1 1 1 European/American
Deveault et al. 2011 65LF 69 BBS2 p.Arg622*/p.Ala136Pro cLOF/MS F 0-9 7 1 1 1 1 1 1 South African Black/European/Asian
Kerr et al. 2015 03JU 1 BBS1 p.Ile330Thr/p.Arg483* MS/cLOF
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 F 20-39 23 1 1 1 1! 0 1 1 1 Polish
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Deveault et al. 2011 ZLSP 9 BBS2 p.Asp104Ala/p.Arg632Pro MS/MS
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 M 20-39 30 1 1 1 0 0 1 1 Russian