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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
Bujakowska et al. 2015 ZUX3 Family 3, II.2 BBS20 c.770T>C/c.3112-5T>A p.Leu257Pro/splice MS/cLOF 20-39 38 1 0 0 White European
Hjortshoj et al. 2010 W986 P1 BBS2 p.Phe221fs*25/p.Phe221fs*25 cLOF/cLOF
[]
 F 0-9 6 1 1 1 0 0 Scandinavian
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
Hjortshoj et al. 2010 Y6V5 P16 BBS2 p.Phe221fs*25/p.Arg216* cLOF/cLOF
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 M 0-9 5 1 1 1 1 0 1 Scandinavian
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
Hjortshoj et al. 2010 QC14 P42 BBS2 p.Arg216*/p.Tyr24* cLOF/cLOF
[]
 M 10-19 10 1 1 1 1 0 0 Scandinavian
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
Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
[]
 F 10-19 19 1 1 1 1 1 Scandinavian
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
Hjortshoj et al. 2010 XKZA P57 BBS2 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF
[]
 M 0-9 1 1 1 1 1 1 0 Scandinavian
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
Castro-Sanchez et al. 2015 3KOY GBB6 (110) BBS1 p.Met390Arg/p.Leu288Arg MS/MS M 20-39 38 1 1 1 0 0 Spanish
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
Castro-Sanchez et al. 2015 WZMT GBB7 (111)‡ BBS1 p.Met390Arg/p.Val366Asp MS/MS F 20-39 21 1 1 1 1 1 0 1 Spanish
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
Castro-Sanchez et al. 2015 WZMT GBB7 (112)‡ BBS1 p.Met390Arg/p.Val366Asp MS/MS M 20-39 25 1 1 1 1 1 0 1 Spanish
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
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
Sathya Priya et al. 2015 1U6N BBS-T BBS3 c.272T>C/c.272T>C p.Ile91Thr/p.Ile91Thr MS/MS 1 1 1 1 1 0 Indian