Items: 576 - 600 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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LIV
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Notes
Harville et al. 2010 LVPF A2017-II1 BBS12 c.1483_1484delGA/c.1483_1484delGA p.Glu495fs*4/p.Glu495fs*4 cLOF/cLOF 1 1 1 0 0 Turkish
Phelps et al. 2017 MDPS UW013-3 BBS14
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 1 0 0 0 European
Branfield Day et al. 2015 NA 11 BBS4 F 10-19 18 1 0 0 Iraqi
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
Phelps et al. 2017 MDPS UW013-4 BBS14 1 0 0 0 European
Phelps et al. 2017 6S11 UW045-3 BBS14 0 0 0 0 European
Branfield Day et al. 2015 NA 20 BBS6 M 20-39 22,4 1 0 0 Portugese
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 HKJC UW220-3 BBS14 1 0 0 0 European
Branfield Day et al. 2015 NA 5 BBS8 F 10-19 14,6 1 0 0 Pakistani
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
Branfield Day et al. 2015 NA 6 BBS8 F 10-19 15,4 1 0 1 NA
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
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
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
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
Rahner et al. 2016 TUBA II.1 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 20-39 20 1 0 1 0 0 Moroccan
Rahner et al. 2016 TUBA II.3 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 10-19 15 1 0 1 0 0 Moroccan
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
Riazuddin et al. 2010 G8FZ V:1 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 29 1 0 0 0 0 0 Pakistani
Riazuddin et al. 2010 G8FZ V:10 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF F 10-19 16 1 0 0 0 0 0 Pakistani
Riazuddin et al. 2010 G8FZ V:5 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 24 1 0 0 0 0 0 Pakistani
Riazuddin et al. 2010 G8FZ V:7 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 21 1 0 0 0 0 0 Pakistani