Items: 351 - 375 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
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Notes
Bee et al. 2015 PTO2 II:2 BBS2 c.1864C>T/c.1932T>A p.Arg622*/p.Tyr644* cLOF/cLOF F 20-39 37 1 1 1 1 1 Malay
Fattahi et al. 2014 VO8X 34754 BBS2 c.1003C>T/c.1003C>T p.Gln335*/p.Gln335* cLOF/cLOF 1 1 1 1 1 Iranian
Fattahi et al. 2014 2X8V 34885 BBS2 c.471G>C/c.471G>C p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF 1 1 1 1 0 Iranian
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
Fattahi et al. 2014 WJ64 38931 BBS2 c.1910+1G>T/c.1910+1G>T splice/splice cLOF/cLOF 1 1 1 1 1 Iranian
Fedick et al. 2013 6RJ4 1 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS M 1 1 Ashkenazi Jewish
Fedick et al. 2013 2S6X 2 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS F 1 1 Ashkenazi Jewish
Fedick et al. 2013 PZIT 3 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
Fedick et al. 2013 PZIT 4 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
Bennouna-Greene et al. 2011 4HTC 01.05.07 BBS2 p.Pro134fs*67/p.Leu209fs*21 cLOF/cLOF M 20-39 27 1 1 1 French
M'hamdi et al. 2013 QJ44 BBS-F02-A BBS2 c.345+5G>A/c.345+5G>A splice/splice cLOF/cLOF
[]
 M 0-9 6 1 1 1 1 1 0 Tunisian
M'hamdi et al. 2013 FHWS BBS-F07-A BBS2 c.565C>T/c.565C>T p.Arg189*/p.Arg189* cLOF/cLOF F 0-9 8 1 1 1 1 0 0 Tunisian
Branfield Day et al. 2015 NA 9 BBS2 F 10-19 14,3 1 1 1 NA
Harville et al. 2010 G0X5 A2012-II1 BBS2 c.1237C>T/c.1237C>T p.Arg413*/p.Arg413* cLOF/cLOF 1 1 1 0 0 Pakistani
Harville et al. 2010 J9M7 A2025-II1 BBS2 c.68G>C/c.68G>C p.Arg23Pro/p.Arg23Pro MS/MS 1 1 1 0 1 Turkish
Hjortshoj et al. 2010 W986 P1 BBS2 p.Phe221fs*25/p.Phe221fs*25 cLOF/cLOF
[]
 F 0-9 6 1 1 1 0 0 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
Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
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 F 10-19 19 1 1 1 1 1 Scandinavian
Hjortshoj et al. 2010 XKZA P57 BBS2 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF
[]
 M 0-9 1 1 1 1 1 1 0 Scandinavian
Sathya Priya et al. 2015 PBI3 BBS-F BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 1 0 Indian
Sathya Priya et al. 2015 9FSA BBS-U BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 0 1 0 1 Indian
Sathya Priya et al. 2015 5AB3 BBS-Y BBS2 c.209G>A/c.209G>A p.Ser70Asn/p.Ser70Asn MS/MS 1 1 0 0 1 1 Indian
Innes et al. 2010 KVYU P1 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 10-19 19 1 1 1 0 1 1 1 Hutterite
Innes et al. 2010 BF8A P2 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 0-9 0,5 1 1 1 Hutterite