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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Deveault et al. 2011 GB4U 64 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 South African Black
Deveault et al. 2011 ERE3 68 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 10-19 13 1 1 1 1 1! 0 0 1 South African Black
Deveault et al. 2011 HX4N 70 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 10-19 17 1 1 1 1 1! 1 1 1 South African Black/European/Asian
Deveault et al. 2011 FKM6 138 BBS10 c.197+1G>T/ splice/p.Leu600Ser cLOF/MS M 10-19 14 1 0 1 0 0 1 Mexican/Norwegian/Danish
Kerr et al. 2015 XOZA 12 BBS10 p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF F 10-19 10 1 1 1 0 0 0 Canadian
Kerr et al. 2015 IC89 6 BBS10 p.Cys91Leufs*5/p.Glu104Lysfs*7 cLOF/cLOF F 20-39 22 1 1 1 1! 0 1 1! 1 English/Irish/Scottish
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Kerr et al. 2015 G3C7 7b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 1 French/Canadian
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Kerr et al. 2015 G3C7 8b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 13 1 1 1 1 1 1! 0 1 French/Canadian
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Kerr et al. 2015 G3C7 9b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 0 0 1 French/Canadian
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Kerr et al. 2015 OVPA 10c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 18 1 1 1 1 0 1 1 German/Italian
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Kerr et al. 2015 OVPA 11c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 20-39 20 1 1! 1 1! 0 1 1 German/Italian
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Agha et al. 2013 7E5A IV-1 BBS10 c.1958_1967del/c.1958_1967del p.Ser653Ilefs*4/p.Ser653Ilefs*4 cLOF/cLOF M 10-19 15 1 1 1 1 1 0 0 1 1 Pakistani
Schaefer et al. 2011(b) QIBS I.10 BBS10 c.271_272insT/c.1091delA p.Cys91Leufs*5/p.Asn364Thrfs*5 cLOF/cLOF F 1 0 1 1 1 French
Agha et al. 2013 7E5A IV-3 BBS10 c.1958_1967del/c.1958_1967del p.Ser653Ilefs*4/p.Ser653Ilefs*4 cLOF/cLOF M 0-9 4 1 1 1 1 Pakistani
Schaefer et al. 2011(b) ESHT II.6 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF F 1 1 1 1 1 French
Schaefer et al. 2011(b) ZT7M VII.26 BBS10 c.145C>T/c.145C>T p.Arg49Trp/p.Arg49Trp MS/MS F 1 1 1 1 1 French
Khan et al. 2013 ITYJ B IV-2 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF F 20-39 37 1 1 0 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-3 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 26 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-4 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 20 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-5 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 18 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-6 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 13 1 1 1 1 0 0 Pakistani
Ece Solmaz et al. 2015 WBR2 1 BBS10 c.931T>G/c.931T>G p.Ser311Ala/p.Ser311Ala MS/MS 10-19 16 1 0 1 1 1 0 1 0 1 Turkish
Aldahmesh et al. 2014 UUT5 BBS_DG1a BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS F 1 1 0 1 1 1 Saudi Arabian
Ece Solmaz et al. 2015 XKAW 4 BBS10 c.1856_1865delAAAAATGCCA/c.1856_1865delAAAAATGCCA p.Lys619Ilefs*10/p.Lys619Ilefs*10 cLOF/cLOF 10-19 13 1 0 1 1 0 1 0 0 1 Turkish
Scheidecker et al. 2015 3J2E Case3 BBS10 p.Arg95Ser/p.Val707* MS/cLOF F 20-39 25 1 1 1 0 1 0 French