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Source ID
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Protein change
TOM
Add. mut.
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Notes
Harville et al. 2010 S9R9 A2015-II1 BBS12 c.1589T>C/c.1589T>C p.Leu530Pro/p.Leu530Pro MS/MS 1 0 1 1 1 1 Pakistani
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
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 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 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 SRNJ A2005-II1 BBS7 c.688T>C/c.688T>C p.Trp320Arg/p.Trp320Arg MS/MS 0 1 1 1 1 1 Turkish
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 WRRU A2003-II1 BBS12 c.1589T>C/c.1589T>C p.Leu530Pro/p.Leu530Pro MS/MS 1 0 1 1 1 1 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
Laurier et al. 2006 00OK A2 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 50 1 1 1 1 Lebanese
Chaki et al. 2011 S87U A197-21 BBS14 c.3175_3176insA/c.7341_7342insA p.Ile1059fs*11/p.Leu2448fs*8 cLOF/cLOF 1 0 1 0 NA
Janssen et al. 2011 WUGA A1885 0 BBS2 c.823C>T/c.1895G>C p.Arg275*/p.Arg632Pro cLOF/MS 1 0 0 1 0 USA
Chaki et al. 2011 LTKJ A1715-21 BBS14 c.5311G>T/c.5445_5448delA p.Glu1771*/p.Leu1815fs*4 cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 BG5M A1713-21 BBS14 c.5182G>T/c.6277del1 p.Glu1728*/p.Val2093fs*4 cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 BG5M A1713 -22 BBS14 c.5182G>T/c.6277del1 p.Glu1728*/p.Val2093fs*4 cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 TVBG A1388-21 BBS14 c.136G>T/c.5649_5650insA p.Glu46*/p.Leu1884fs*23 cLOF/cLOF 0 1 1 0 NA
Chaki et al. 2011 WB7H A1365-22 BBS16 c.1420del2/c.1420del2 p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 WB7H A1365-21 BBS16 c.1420del1/c.1420del1 p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 FMNC A1188-21 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 0 1 1 0 NA
Janssen et al. 2011 DRZF A1155 0 BBS2 c.947G>A/c.947G>A p.Gly316Asp/p.Gly316Asp MS/MS 0 1 0 1 1 N. European
van Huet et al. 2013 VXOY A-IV:1 BBS21 c.497T>A/c.497T>A p.Leu166*/p.Leu166* cLOF/cLOF M 20-39 37 1 0 0 0 0 0 NA
Khan et al. 2013 38GY A V-4 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 12 1 0 1 0 0 0 Pakistani
Khan et al. 2013 38GY A V-3 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 10-19 16 1 1 1 0 0 0 Pakistani
Khan et al. 2013 38GY A V-2 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 19 1 1 1 0 0 0 0 Pakistani
Khan et al. 2013 38GY A IV-7 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 20-39 26 1 1 1 0 0 0 0 Pakistani