Items: 51 - 75 from 899
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Source ID
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Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
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Notes
Castro-Sanchez et al. 2015 Y7RJ M129-(1518)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 64 1 1 0 1 1 0 1 0 Spanish
Castro-Sanchez et al. 2015 Y7RJ M129-(1519)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 61 1 1 0 1 1 0 Spanish
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
Abu-Safieh et al. 2012 Y63A BBS-F032-A BBS13 Exon1loss/ loss of exon 1/loss of exon 1 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Katsanis et al. 2000 Y5Z6 NF-B13 1 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 Y5Z6 NF-B13 2 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Fattahi et al. 2014 Y3OD 38498 BBS2 c.256_278dup23/c.256_278dup23 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF 0 1 1 1 1 1 Iranian
Chaki et al. 2011 Y3MD F944-31 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 Y3MD F944-32 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 0 1 0 NA
Estrada-Cuzcano et al. 2012 (a) XZ97 4/M BBS1 p.Met390Arg/p.Cys377Trpfs*36 MS/cLOF M 1 0 0 0 0 1 0 0 Netherland
Davies et al. 2018 XSEE BBS008 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 1 1 0 0 0 White European
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
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
Hjortshoj et al. 2009 XLU7 FO-07 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 0-9 4 1 1 1 0 Faroe Islands
Katsanis et al. 2001 XLCX PB026² BBS2 p.Asp170fs*2/p.Asp170fs*2 cLOF/cLOF
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 1 1 1 1 1 European/American
Hjortshoj et al. 2010 XKZA P57 BBS2 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF
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 M 0-9 1 1 1 1 1 1 0 Scandinavian
Ece Solmaz et al. 2015 XKAW 4 BBS10 c.1856_1865delAAAAATGCCA/c.1856_1865delAAAAATGCCA p.Lys619Ilefs*10/p.Lys619Ilefs*10 cLOF/cLOF 10-19 13 1 0 1 1 0 1 0 0 1 Turkish
Shaheen et al. 2016 XJQC F-27-46 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 XJQC F-27-47 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Bennouna-Greene et al. 2011 XI3Q 1.16.25 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 38 1 1 0 French
Lindstrand et al. 2014 XFT0 RC1-03 BBS10 c.926T>C/c.9_14delTTCTAT p.Leu309Pro/p.Ser3_Met5delinsArg MS/MS
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 1 1 1 1 0 1 Latino
Reiner et al. 2018 XDWM Patient BBS9 deletion of exons 1-4/deletion of exons 1-4 cLOF/cLOF M 0-9 1 1 1 0 0 0 1 Guyanese
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
Sathya Priya et al. 2015 X7SU BBS-L BBS9 r.618_702del/r.618_702del p.Tyr207Trpfs*4/p.Tyr207Trpfs*4 cLOF/cLOF 1 1 1 1 1 0 1 Indian
Iurian et al. 2015 X6V2 C.V.N BBS12 c.1063C>T/c.1063C>T p.Arg355*/p.Arg355* cLOF/cLOF M 0-9 5 month 0 1 1 1 1 1 Romanian