Items: 576 - 600 from 899
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Source
Family
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
Braun et al. 2014 NA 7 BBS1 F 20-39 27 0 0 French
Braun et al. 2014 NA 13 BBS1 M 20-39 22 0 0 French
Braun et al. 2014 NA 8 BBS10 F 20-39 20 1 1 French
Braun et al. 2014 NA 11 BBS10 M 20-39 37 1 0 French
Braun et al. 2014 NA 17 BBS10 M 20-39 25 1 0 French
Braun et al. 2014 NA 20 BBS10 F 20-39 27 1 1 French
Braun et al. 2014 NA 18 BBS12 F 20-39 22 1 1 French
Braun et al. 2014 NA 19 BBS12 M 20-39 39 1 1 French
Braun et al. 2014 NA 16 BBS3 M 10-19 18 1 0 French
Braun et al. 2014 NA 1 BBS4 F 20-39 26 1 1 French
Braun et al. 2014 NA 9 BBS5 M 20-39 24 1 0 French
Braun et al. 2014 NA 10 BBS5 M 20-39 39 1 0 French
Braun et al. 2014 NA 14 BBS9 M 20-39 27 1 0 French
Deveault et al. 2011 NAUR 32 BBS1 p.Met1Val/p.Met1Val MS/MS F 20-39 30 1 1 1 0 0 0 1 1 Croatian
Deveault et al. 2011 NAUR 57 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 32 1 1 1 0 1 0 1 1 Croatian
Shaheen et al. 2016 NBM7 F-13-19 BBS4 r.118_261del/r.118_373del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
Deveault et al. 2011 NF8Q 24 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 0-9 6 1 1 1 1 1 1 1 Pakistani
Deveault et al. 2011 NF8Q 56 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 10-19 15 1 1 1 0 1 Pakistani
Scheidecker et al. 2015 NG8A Case5 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 40+ 54 1 1 1 0 1 0 French
Scheidecker et al. 2015 NG8A Case6 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 20-39 36 1 1 1 0 1 French
Shaheen et al. 2016 NI0T F-19-27 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 NI0T F-19-28 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
Katsanis et al. 2001 NITU NFB14§ BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF
[]
 1 1 1 1 1 1 Newfoundland
Bennouna-Greene et al. 2011 NK6A 1.10.19 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 34 1 1 1 French
Badano et al. 2003 NKEI AR768-03 BBS1 p.Met390Arg/frameshift - deletion in exon 16 MS/cLOF F 0-9 9 1 0 0 1 Northern European