Items: 701 - 725 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
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Age
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Notes
Kerr et al. 2015 8WRO 14d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF F 10-19 18 1 1 1 1 0 0 1 1! 1 Iraqi
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Kerr et al. 2015 8WRO 15d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF M 10-19 16 1 1 1 1 0 0 1 0 1 Iraqi
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Ece Solmaz et al. 2015 AYQT 6 BBS4 c.406-2A>G/c.406-2A>G splice/splice cLOF/cLOF 0-9 8 1 1 0 1 0 0 0 0 1 Turkish
Lindstrand et al. 2016 MJ9E AR400-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF F 10-19 11 1 1 1 1 1 NA
Lindstrand et al. 2016 ZFQ9 AR800-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF M 0-9 5 1 1 1 1 1 NA
Fattahi et al. 2014 65UG 34881 BBS4 c.829G>A/c.829G>A p.Gly277Arg/p.Gly277Arg MS/MS 1 1 1 1 0 Iranian
Fattahi et al. 2014 WNW3 40568 BBS4 c.77_220del/c.77_220del p.Pro27_Ala74del/p.Pro27_Ala74del cLOF/cLOF 1 1 1 1 1 1 Iranian
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
Branfield Day et al. 2015 NA 8 BBS4 F 10-19 15,1 1 1 0 French
Branfield Day et al. 2015 NA 10 BBS4 M 10-19 15,6 1 0 0 Iraqi
Branfield Day et al. 2015 NA 11 BBS4 F 10-19 18 1 0 0 Iraqi
Harville et al. 2010 JVOM A2008-II1 BBS4 c.IVS3-2A>G/c.IVS3-2A>G splice/splice cLOF/cLOF 1 1 1 1 0 USA
Harville et al. 2010 ENNE A2023-II1 BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF 1 1 1 1 1 1 1 Turkish
Riise et al. 2002 7ZYG IV-1 BBS4 2bp insertion in exon 8/2bp insertion in exon 8 fs/fs cLOF/cLOF F 10-19 13 1 1 1 0 Scandinavian
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Riise et al. 2002 7ZYG IV-2 BBS4 2bp insertion in exon 8/2bp insertion in exon 8 fs/fs cLOF/cLOF M 10-19 16 1 1 1 0 1 Scandinavian
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Braun et al. 2014 NA 1 BBS4 F 20-39 26 1 1 French
Riise et al. 2002 DLS1 IX-1 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 30 1 1 1 0 1 0 Scandinavian
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Riise et al. 2002 DLS1 IX-2 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 32 1 1 1 0 1 0 Scandinavian
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Riise et al. 2002 PTMJ VIII-1 BBS4 A>C in exon 7 splice acceptor position −2/A>C in exon 7 splice acceptor position −2 splice/splice cLOF/cLOF F 20-39 20 1 1 0 1 0 Scandinavian
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Riise et al. 2002 PTMJ VIII-2 BBS4 A>C in exon 7 splice acceptor position −2/A>C in exon 7 splice acceptor position −2 splice/splice cLOF/cLOF F 20-39 33 1 1 1 1 0 Scandinavian
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Sathya Priya et al. 2015 U9D6 BBS-A BBS4 c.1077-?_1601+?/c.1077-?_1601+? p.?/p.? ?/? 1 0 1 1 0 Indian
Iannaccone et al. 2005 M1KN pat1 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF M 20-39 28 1 1 0 0 1 0 Italian
Iannaccone et al. 2005 M1KN pat2 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF F 20-39 22 1 1 1 1 0 1 Italian
Iannaccone et al. 2005 M1KN pat3 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF M 20-39 27 1 1 0 0 1 1 0 Italian
Shaheen et al. 2016 3MZE F-2-2 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian