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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
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Notes
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
Hjortshoj et al. 2009 Q90P FO-01 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 23 1 1 0 Faroe Islands
Hjortshoj et al. 2009 PT3J FO-02 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 10-19 17 1 1 1 1 0 Faroe Islands
Hjortshoj et al. 2009 Z6Q4 FO-03 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 29 1 1 1 Faroe Islands
Hjortshoj et al. 2009 Z6Q4 FO-04 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 30 1 1 0 1 Faroe Islands
Hjortshoj et al. 2009 XLU7 FO-07 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 0-9 4 1 1 1 0 Faroe Islands
Hjortshoj et al. 2009 JLFX FO-08 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 Faroe Islands
Hjortshoj et al. 2009 4LAO FO-09 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 0 Faroe Islands
Bujakowska et al. 2015 ARFT Family 1, II.1 BBS20 c.1525-1G>A/c.4701C>A splice/p.His1567Gln cLOF/MS 10-19 15 1 1 1 0 1 White European
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
Bujakowska et al. 2015 ARFT Family 1, II.2 BBS20 c.1525-1G>A/c.4701C>A splice/p.His1567Gln cLOF/MS 20-39 22 1 1 0 0 1 White European
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
Bujakowska et al. 2015 L077 Family 2, II.1 BBS20 c.4815T>G/c.4815T>G p.Asp1605Glu/p.Asp1605Glu MS/MS 20-39 33 1 0 0 0 White European
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
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
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