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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
Billingsley et al. 2012 MESS 59 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF 10-19 13 1 1 0 1! 0 1 1 1 1 East Indian
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
Branfield Day et al. 2015 NA 15 BBS1 F 20-39 23 1 1 0 NA
González‐del Pozo et al. 2013 7KIL II:4 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS
[]
 M 1 1 1 1 0 1 0 0 Spanish
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
Branfield Day et al. 2015 NA 1 BBS10 F 10-19 15,2 1 1 1 NA
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
Branfield Day et al. 2015 NA 2 BBS10 F 10-19 14,4 1 1 1 NA
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
Branfield Day et al. 2015 NA 16 BBS10 F 20-39 20,3 1 1 0 British
Branfield Day et al. 2015 NA 17 BBS10 F 20-39 22,3 1 1 1 British/Irish
Harville et al. 2010 2RC7 A2880-II1 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 0 1 1 Europe
Branfield Day et al. 2015 NA 18 BBS10 M 10-19 18,2 1 1 0 German
Branfield Day et al. 2015 NA 21 BBS10 M 10-19 19,9 1 1 0 German
Branfield Day et al. 2015 NA 3 BBS16 F 10-19 17,9 1 1 0 Indian
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
Branfield Day et al. 2015 NA 4 BBS16 F 10-19 14,6 1 1 1 Indian
Branfield Day et al. 2015 NA 9 BBS2 F 10-19 14,3 1 1 1 NA
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
Pereiro et al. 2010 EO6P B17 II.1 BBS6 p.Leu454Pro/p.Leu454Pro MS/MS 1 1 1 1 1 Caucasian
Branfield Day et al. 2015 NA 8 BBS4 F 10-19 15,1 1 1 0 French
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
Branfield Day et al. 2015 NA 19 BBS6 M 20-39 22,2 1 1 1 NA
Harville et al. 2010 J9M7 A2025-II1 BBS2 c.68G>C/c.68G>C p.Arg23Pro/p.Arg23Pro MS/MS 1 1 1 0 1 Turkish
Phelps et al. 2017 6S11 UW045-4 BBS14 0 0 1 0 European