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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
Otto et al. 2010 AZ5O NK-F1063 BBS16 c.1444delA/c.1627_1630delGATA p.Thr482fs*12/p.Asp543fs*24 cLOF/cLOF 1 1 1 1 India
Otto et al. 2010 IDME SS23/A1365_21 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Otto et al. 2010 IDME SS23/A1365_22 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Harville et al. 2010 C4K2 A2014-II1 BBS1 c.IVS1-1G>A/c.IVS1-1G>A splice/splice cLOF/cLOF 0 1 1 1 1 Turkish
Pawlik et al. 2010 RNS3 IV-2 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 30 1 0 1 0 0 0 0 0 0 Pakistani
Pawlik et al. 2010 RNS3 IV-3 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 27 1 0 1 0 0 0 0 0 0 Pakistani
Pawlik et al. 2010 RNS3 IV-9 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 10-19 19 1 0 1 0 0 0 0 0 0 Pakistani
Pereiro et al. 2010 VJ0Y M250 II.3 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Pereiro et al. 2010 VJ0Y M250 II.6 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Harville et al. 2010 OWHJ A2885-II1 (AKK65) BBS1 c.IVS2+1G>A/c.IVS2+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Harville et al. 2010 OWHJ A2885-II2 (AKK65) BBS1 c.IVS2+1G>A/c.IVS2+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Pereiro et al. 2010 0KMP M446 II.1 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 0 0 Caucasian
Pereiro et al. 2010 0KMP M446 II.2 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 1 0 Caucasian
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
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 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
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
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
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
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
Harville et al. 2010 E9UF A2827-II2 (AR74) BBS8 c.IVS10+2_4delTGC/c.IVS10+2_4delTGC splice/splice cLOF/cLOF 1 1 1 1 1 1 Pakistani
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