Items: 251 - 275 from 899
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Source ID
Gene
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Protein change
TOM
Add. mut.
Sex
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Age
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PD
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Notes
Phelps et al. 2017 MDPS UW013-4 BBS14 1 0 0 0 European
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
Phelps et al. 2017 6S11 UW045-3 BBS14 0 0 0 0 European
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
Phelps et al. 2017 6S11 UW045-4 BBS14 0 0 1 0 European
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
Phelps et al. 2017 HKJC UW220-3 BBS14 1 0 0 0 European
Harville et al. 2010 H5B5 A2002-II1 BBS5 c.2T>A/c.2T>A p.Met1Lys/p.Met1Lys cLOF/cLOF 1 1 1 1 0 Pakistani
Phelps et al. 2017 80NL UW244-3 BBS14 1 0 1 0 European
Harville et al. 2010 E9UF A2027-II1 BBS5 c.2T>A/c.2T>A p.Met1Lys/p.Met1Lys cLOF/cLOF 1 0 1 1 0 Pakistani
Phelps et al. 2017 80NL UW244-4 BBS14 1 0 1 1 European
Harville et al. 2010 S37F A2004-II2 BBS7 c.711_714delGAGA/c.711_714delGAGA p.Arg238fs*59/p.Arg238fs*59 cLOF/cLOF 1 1 1 1 1 0 Turkish
Phelps et al. 2017 7J4Q UW259-3 BBS14
[]
 0 0 0 0 European
Harville et al. 2010 SRNJ A2005-II1 BBS7 c.688T>C/c.688T>C p.Trp320Arg/p.Trp320Arg MS/MS 0 1 1 1 1 1 Turkish
Phelps et al. 2017 SWCP UW263-3 BBS14 1 0 1 0 European
Harville et al. 2010 WDU9 A2875-II1 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 1 1 1 Europe
Phelps et al. 2017 MI6E UW282-3 BBS14
[]
 1 0 1 0 European
Harville et al. 2010 WDU9 A2875-II2 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 Europe
Phelps et al. 2017 MI6E UW282-4 BBS14
[]
 1 0 0 0 European
Harville et al. 2010 6FMK A2889-II1 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 0 Israel Arab
Phelps et al. 2017 5LKL UW112-3 BBS20 1 0 1 1 European
Harville et al. 2010 6FMK A2889-II2 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 1 1 Israel Arab
Phelps et al. 2017 5LKL UW112-4 BBS20
[]
 0 0 1 1 European
Harville et al. 2010 LOEF A2011-II1 BBS8 c.122G>A/c.122G>A p.Trp41*/p.Trp41* cLOF/cLOF 1 1 1 1 1 0 Turkish
Harville et al. 2010 E9UF A2827-II1(AR74) BBS8 c.IVS10+2_4delTGC/c.IVS10+2_4delTGC splice/splice cLOF/cLOF 1 1 1 1 1 1 Pakistani