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Nucl. change
Protein change
TOM
Add. mut.
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Notes
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
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
Sathya Priya et al. 2015 ZPP2 BBS-G BBS1 c.1340-2A>G/c.1340-2A>G splice/splice cLOF/cLOF 1 1 1 0 0 0 Indian
Sathya Priya et al. 2015 HA2V BBS-M BBS1 c.1695G>A/c.1695G>A splice/splice cLOF/cLOF 1 1 1 0 0 0 Indian
Sathya Priya et al. 2015 FXNB BBS-C BBS10 c.1660G>A/c.1660G>A p.Gly401Glu/p.Gly401Glu MS/MS 1 1 1 1 0 1 Indian
Sathya Priya et al. 2015 SREX BBS-F1 BBS10 c.1227delA/c.1227delA p.Gln409Hisfsˆ*22/p.Gln409Hisfsˆ*22 cLOF/cLOF 1 1 1 1 0 Indian
Sathya Priya et al. 2015 UGBG BBS-H BBS10 c.271_272insT/c.271_272insT p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF 1 1 1 0 0 Indian
Sathya Priya et al. 2015 AF1K BBS-Q BBS11 c.722A>G/c.722A>G p.Tyr241Cys/p.Tyr241Cys MS/MS 1 1 1 0 1 0 Indian
Sathya Priya et al. 2015 MAED BBS-J BBS12 c.704C>G/c.704C>G p.Pro108Arg/p.Pro108Arg MS/MS 1 1 1 0 0 1 Indian
Sathya Priya et al. 2015 YFO2 BBS-Z BBS12 c.223delC/c.223delC p.Gln75Leufs*37/p.Gln75Leufs*37 cLOF/cLOF 1 1 1 1 0 1 1 Indian
Sathya Priya et al. 2015 PBI3 BBS-F BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 1 0 Indian
Sathya Priya et al. 2015 9FSA BBS-U BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 0 1 0 1 Indian
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
Sathya Priya et al. 2015 5AB3 BBS-Y BBS2 c.209G>A/c.209G>A p.Ser70Asn/p.Ser70Asn MS/MS 1 1 0 0 1 1 Indian
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
Sathya Priya et al. 2015 8JNZ BBS-D BBS3 c.302G>T/c.302G>T p.Arg101Ile/p.Arg101Ile MS/MS 1 1 1 0 0 Indian
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
Sathya Priya et al. 2015 INPU BBS-K BBS3 c.272T>C/c.272T>C p.Ile91Thr/p.Ile91Thr MS/MS 1 1 1 1 1 0 Indian
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
Sathya Priya et al. 2015 PYKP BBS-R BBS3 c.272T>C/c.272T>C p.Ile91Thr/p.Ile91Thr MS/MS 1 1 1 1 0 Indian