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
Lindstrand et al. 2016 48D6 AR240-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 20-39 21 1 1 1 1 0 0 NA
M'hamdi et al. 2013 5XR9 BBS-F03-A BBS4 deletion of exons 4-6/deletion of exons 4-6 cLOF/cLOF
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 F 0-9 4,5 1 1 1 0 1 0 Tunisian
Lindstrand et al. 2016 KOBZ AR883-04 BBS10 c.2119_2120delGT/c.2118_2119delTG p.Val707*/p.Val707fs* cLOF/cLOF
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 M 0-9 4 1 1 1 1 1 NA
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
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
Billingsley et al. 2010 3PNW 24{ BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 0-9 6 1 0 1 1 1 0 1 Pakistani
Billingsley et al. 2010 3PNW 56{ BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 10-19 15 1 1 1 0 1 0 Pakistani
Deveault et al. 2011 ZR8V 19 BBS1 p.Met390Arg/p.Asn524del MS/MS
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 M 20-39 24 1 1 0 0 1 1 1 English
Deveault et al. 2011 IXHU 4 BBS7 /IVS6+2T>C p.Gly63Arg/splice MS/cLOF
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 F 40+ 40 1 1 1 1 0 0 0 1 Italian
Heon et al. 2016 XN45 BBS21 c.304A>T/c.304A>T p.Lys102*/p.Lys102* cLOF/cLOF
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 F 10-19 12 1 1 1 1 1 1 1 Caucasian
Abu-Safieh et al. 2012 W27X BBS-F018-A BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF
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 1 1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 799M BBS-F009-A BBS1 c.124+1G>A/c.951+58C>T p.Leu43Glyfs*44/p.Gly318Valfs*62 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 JGD7 BBS-F016-A BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian
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 WIEN PB043\ BBS2 p.Thr560Ile/p.Thr560Ile MS/MS
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 0 1 1 0 1 European/American
Fan et al. 2004 GC3Y PID 9 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS
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 F 40+ 62 1 1 0 1 1 Newfoundland
Abu-Safieh et al. 2012 RD3Y BBS-F026-A BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian
M'hamdi et al. 2013 7H0X BBS-F12-A BBS1 c.39delA/c.39delA p.Ala14Leufs*28/p.Ala14Leufs*28 cLOF/cLOF
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 F 10-19 14 0 0 0 1 0 1 Tunisian
M'hamdi et al. 2013 7H0X BBS-F12-B BBS1 c.39delA/c.39delA p.Ala14Leufs*28/p.Ala14Leufs*28 cLOF/cLOF
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 M 0-9 4 1 1 1 1 1 1 Tunisian
Billingsley et al. 2010 YAGJ 126** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
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 F 0-9 4 1 1 1 1 Canadian Native Indian
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
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
Hjortshoj et al. 2010 58IU P47 BBS10 p.Cys91Trpfs*5/p.Gln623* cLOF/cLOF
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 M 0-9 9 1 1 1 0 1 0 Scandinavian
Abu-Safieh et al. 2012 K3C9 BBS-F014-A BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian