Items: 676 - 700 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
Shaheen et al. 2016 ZN58 F-42-71 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
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
Shaheen et al. 2016 WOAU F-6-8 BBS6 c.295T>C/c.295T>C p.Cys99Arg/p.Cys99Arg MS/MS 1 1 1 1 Saudi Arabian
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
Shaheen et al. 2016 WOAU F-6-9 BBS6 c.295T>C/c.295T>C p.Cys99Arg/p.Cys99Arg MS/MS 1 1 1 1 1 1 1 Saudi Arabian
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 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 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
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
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
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
Deveault et al. 2011 75UO 16 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 20-39 30 1 1 1 1 0 Denea
Abu-Safieh et al. 2012 JMQS BBS-F030-A BBS5 c.158C>T/c.158C>T p.Thr53Ile/p.Thr53Ile MS/MS
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 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 75UO 18 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 40+ 43 1 1 1 1 1 1 Denea
Abu-Safieh et al. 2012 ZLPD BBS-F019-A BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
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 1 1 1 1 1 1 0 Saudi Arabian
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
Abu-Safieh et al. 2012 ZLPD BBS-F019-B BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
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 1 1 1 1 1 1 0 Saudi Arabian
Abu-Safieh et al. 2012 HF1E BBS-F022-A BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 0 1 0 0 Saudi Arabian
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
Deveault et al. 2011 UAMN 50 BBS5 p.Gly72Ser/p.Gly72Ser MS/MS M 10-19 16 1 1 1 1! 1 0 1 1 Somalian
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Deveault et al. 2011 WE5M 76 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS M 0-9 8 1 1 1 1 Arabica
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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