Items: 76 - 100 from 899
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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
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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Deveault et al. 2011 14M0 77 BBS2 p.Gly81Cys/p.Cys307Trp MS/MS M 20-39 31 1 1 1 1 1 0 1 Caucasian
Kerr et al. 2015 1GW6 3a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF F 20-39 32 1 1 1 0 0 0 1 English/Irish/Scotish
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Deveault et al. 2011 14M0 78 BBS2 p.Gly81Cys/p.Cys307Trp MS/MS M 20-39 29 1 1 1 1 1 0 1 1 Caucasian
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 75UO 17 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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 F 0-9 7 1 1 1 1 Denea
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 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
Kerr et al. 2015 XOZA 12 BBS10 p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF F 10-19 10 1 1 1 0 0 0 Canadian
Deveault et al. 2011 75UO 16 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 20-39 30 1 1 1 1 0 Denea
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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Deveault et al. 2011 75UO 18 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 40+ 43 1 1 1 1 1 1 Denea
Kerr et al. 2015 G3C7 7b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 1 French/Canadian
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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
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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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
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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Deveault et al. 2011 NZLP 130 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 0-9 0 1 1 1 Lebanese
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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Deveault et al. 2011 NZLP 142 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 10-19 11 1 1 1 1 1 1 1 Lebanese
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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Deveault et al. 2011 O815 81 BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF F 10-19 17 1 1 1 0 0 1 1 0 NA
Kerr et al. 2015 KLK2 22 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF F 10-19 15 1 1 0 1 Canadian
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
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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