Items: 76 - 100 from 899
CSV export Reset filters
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
Azari et al. 2006 GBVH P7¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40 0 1 USA
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
Badano et al. 2003 NKEI AR768-04 BBS1 p.Met390Arg/frameshift - deletion in exon 16 MS/cLOF
[]
 F 0-9 7 1 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 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
Ullah et al. 2017 D8UI C IV-2 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 12 1 1 1 1 1 Pakistani
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
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 10-19 17 1 1 Netherland
Lindstrand et al. 2016 C6Y3 KK047-05 BBS2 deletion of exons 8-15/deletion of exons 8-15 cLOF/cLOF M 0-9 9 1 1 1 1 1 NA
Baker et al. 2010 NA NA BBS1 M 20-39 27 1 1 1 United Kingdom
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:2 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 10-19 10 1 1 Netherland
Lindstrand et al. 2016 FQTJ DM034-004 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 10 1 1 1 0 1 0 NA
Bennouna-Greene et al. 2011 NX9Z 01.02.03 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 53 1 1 0 French
Lindstrand et al. 2016 ZFSG KK11-04 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 17 1 1 1 1 1 Saudi Arabian
Bennouna-Greene et al. 2011 GIZN 01.03.04 BBS1 p.Met390Arg/p.Glu384* MS/cLOF F 20-39 28 1 1 0 French
Lindstrand et al. 2016 MJ9E AR400-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF F 10-19 11 1 1 1 1 1 NA
Bennouna-Greene et al. 2011 I8TW 01.07.10 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 21 0 0 0 French
Lindstrand et al. 2016 ZFQ9 AR800-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF M 0-9 5 1 1 1 1 1 NA
Bennouna-Greene et al. 2011 I8TW 01.07.15 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 18 0 1 0 French