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Source
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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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REN
HRT
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Notes
Badano et al. 2003 NKEI AR768-04 BBS1 p.Met390Arg/frameshift - deletion in exon 16 MS/cLOF
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 F 0-9 7 1 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 20-39 32 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-04 BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 M 20-39 35 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-05 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 0 Northern European
Badano et al. 2003 8BCA PB061-03 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF F 20-39 20 0 0 0 Northern European
Badano et al. 2003 8BCA PB061-04 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF M 10-19 18 1 1 1 Northern European
Baker et al. 2010 NA NA BBS1 F 10-19 17 0 1 0 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 20-39 24 1 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 10-19 18 1 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 20-39 21 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 M 20-39 27 1 1 1 United Kingdom
Bee et al. 2015 PTO2 II:2 BBS2 c.1864C>T/c.1932T>A p.Arg622*/p.Tyr644* cLOF/cLOF F 20-39 37 1 1 1 1 1 Malay
Bennouna-Greene et al. 2011 NX9Z 01.02.03 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 53 1 1 0 French
Bennouna-Greene et al. 2011 GIZN 01.03.04 BBS1 p.Met390Arg/p.Glu384* MS/cLOF F 20-39 28 1 1 0 French
Bennouna-Greene et al. 2011 I8TW 01.07.10 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 21 0 0 0 French
Bennouna-Greene et al. 2011 I8TW 01.07.15 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 18 0 1 0 French
Bennouna-Greene et al. 2011 TFG2 05.02.07 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 34 1 1 0 French
Bennouna-Greene et al. 2011 Q3SV 06.01.01 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 33 1 0 0 French
Bennouna-Greene et al. 2011 2KMJ 06.02.04 BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 10-19 19 1 1 0 French
Bennouna-Greene et al. 2011 2KMJ 06.02.05 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 21 1 0 0 French
Bennouna-Greene et al. 2011 XI3Q 1.16.25 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 38 1 1 0 French
Bennouna-Greene et al. 2011 K7Y0 1.4.c BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 1 0 0 French
Bennouna-Greene et al. 2011 L1UE 01.06.06 BBS10 p.Cys91fs*5/p.Leu348fs*13 cLOF/cLOF M 20-39 28 1 1 0 French
Bennouna-Greene et al. 2011 2FSK 04.01.01 BBS10 p.Arg49Trp/p.Leu414Ser MS/MS M 10-19 19 1 0 0 French
Bennouna-Greene et al. 2011 OURF 04.02.02 BBS10 p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF F 10-19 16 1 0 French
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