Items: 851 - 875 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
Katsanis et al. 2001 NITU NFB14§ BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF
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 1 1 1 1 1 1 Newfoundland
Janssen et al. 2011 RRH7 AR850 (A2878) -4 BBS2 c.72C>G/c.504delG p.Tyr24*/p.Leu168fs*33 cLOF/cLOF
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 1 1 1 1 1 N. European
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
Frank et al. 2007 0ZHU 850 BBS13 c.262-37_179del/c.262-37_179del splice/splice cLOF/cLOF
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 1 1 1 Turkish
Katsanis et al. 2001 VLFH AR259§\ BBS2 p.Tyr24*/p.Gln59* cLOF/cLOF
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 1 1 1 1 0 European/American
Castro-Sanchez et al. 2015 WICN M63 (1078)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 M 40+ 41 1 1 1 1 1 1 0 Spanish
Deveault et al. 2011 32AO 80 BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS
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 F 10-19 15 1 1 1 0 0 British
Deveault et al. 2011 DUAC 30 BBS10 p.Cys91Leufs*5/p.Tyr559* cLOF/cLOF
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 F 20-39 32 1 1 1 1 0 1 1 Irish
Billingsley et al. 2010 6XEU 80z BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS
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 F 10-19 15 1 1 1 0 0 British
Hjortshoj et al. 2010 VNHI P41 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS
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 M 0-9 7 1 1 1 1 1 1 1 Scandinavian
Hjortshoj et al. 2010 Y6V5 P16 BBS2 p.Phe221fs*25/p.Arg216* cLOF/cLOF
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 M 0-9 5 1 1 1 1 0 1 Scandinavian
Hjortshoj et al. 2010 QC14 P42 BBS2 p.Arg216*/p.Tyr24* cLOF/cLOF
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 M 10-19 10 1 1 1 1 0 0 Scandinavian
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
Hjortshoj et al. 2010 MIU3 P14 BBS10 p.Cys91Trpfs*5/p.Cys91Trpfs*5 cLOF/cLOF
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 F 0-9 8 1 1 1 1 1 Scandinavian
Badano et al. 2003 NKEI AR768-04 BBS1 p.Met390Arg/frameshift - deletion in exon 16 MS/cLOF
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 F 0-9 7 1 1 1 1 Northern European
M'hamdi et al. 2013 0P3E BBS-F08-A BBS10 c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC p.Ser396Leufs*6/p.Ser396Leufs*6 cLOF/cLOF
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 M 10-19 15 1 1 1 1 1 0 Tunisian
M'hamdi et al. 2013 0P3E BBS-F08-B BBS10 c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC p.Ser396Leufs*6/p.Ser396Leufs*6 cLOF/cLOF
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 F 10-19 11 1 1 0 1 1 1 Tunisian
M'hamdi et al. 2013 QJ44 BBS-F02-A BBS2 c.345+5G>A/c.345+5G>A splice/splice cLOF/cLOF
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 M 0-9 6 1 1 1 1 1 0 Tunisian
Abu-Safieh et al. 2012 M722 BBS-F011-A BBS10 c.1365T>G/c.1365T>G p.Tyr455*/p.Tyr455* cLOF/cLOF
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 1 1 1 0 0 0 0 Saudi Arabian
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
Abu-Safieh et al. 2012 8HPX BBS-F003-A BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS
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 1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 DIFV BBS-F027-A BBS12 c.959T>A/c.959T>A p.Leu320Gln/p.Leu320Gln MS/MS
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 1 1 1 0 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 DIFV BBS-F027-B BBS12 c.959T>A/c.959T>A p.Leu320Gln/p.Leu320Gln MS/MS
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 1 1 1 0 1 1 0 0 Saudi Arabian
M'hamdi et al. 2013 BK29 BBS-F10-A BBS6 c.1272+1G>A/c.1272+1G>A splice/splice cLOF/cLOF
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 F 0-9 7 1 1 1 1 1 0 Tunisian
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