Items: 751 - 775 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
Harville et al. 2010 H5B5 A2002-II1 BBS5 c.2T>A/c.2T>A p.Met1Lys/p.Met1Lys cLOF/cLOF 1 1 1 1 0 Pakistani
Harville et al. 2010 E9UF A2027-II1 BBS5 c.2T>A/c.2T>A p.Met1Lys/p.Met1Lys cLOF/cLOF 1 0 1 1 0 Pakistani
Harville et al. 2010 S37F A2004-II2 BBS7 c.711_714delGAGA/c.711_714delGAGA p.Arg238fs*59/p.Arg238fs*59 cLOF/cLOF 1 1 1 1 1 0 Turkish
Harville et al. 2010 SRNJ A2005-II1 BBS7 c.688T>C/c.688T>C p.Trp320Arg/p.Trp320Arg MS/MS 0 1 1 1 1 1 Turkish
Harville et al. 2010 WDU9 A2875-II1 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 1 1 1 Europe
Harville et al. 2010 WDU9 A2875-II2 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 Europe
Harville et al. 2010 6FMK A2889-II1 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 0 Israel Arab
Harville et al. 2010 6FMK A2889-II2 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 1 1 Israel Arab
Harville et al. 2010 LOEF A2011-II1 BBS8 c.122G>A/c.122G>A p.Trp41*/p.Trp41* cLOF/cLOF 1 1 1 1 1 0 Turkish
Qi et al. 2017 TTDR BBS6 c.1175C>T/c.1192C>T p.Thr392Met/p.Gln398* MS/cLOF
[]
 F 10-19 10 1 0 1 1 1 Chinese
Harville et al. 2010 E9UF A2827-II1(AR74) BBS8 c.IVS10+2_4delTGC/c.IVS10+2_4delTGC splice/splice cLOF/cLOF 1 1 1 1 1 1 Pakistani
Rahner et al. 2016 TUBA II.1 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 20-39 20 1 0 1 0 0 Moroccan
Harville et al. 2010 E9UF A2827-II2 (AR74) BBS8 c.IVS10+2_4delTGC/c.IVS10+2_4delTGC splice/splice cLOF/cLOF 1 1 1 1 1 1 Pakistani
Rahner et al. 2016 TUBA II.3 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 10-19 15 1 0 1 0 0 Moroccan
Heon et al. 2016 XN45 BBS21 c.304A>T/c.304A>T p.Lys102*/p.Lys102* cLOF/cLOF
[]
 F 10-19 12 1 1 1 1 1 1 1 Caucasian
Reiner et al. 2018 XDWM Patient BBS9 deletion of exons 1-4/deletion of exons 1-4 cLOF/cLOF M 0-9 1 1 1 0 0 0 1 Guyanese
Hjortshoj et al. 2009 PT3J FO-02 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 10-19 17 1 1 1 1 0 Faroe Islands
Hjortshoj et al. 2009 Z6Q4 FO-03 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 29 1 1 1 Faroe Islands
Riise et al. 2002 7ZYG IV-1 BBS4 2bp insertion in exon 8/2bp insertion in exon 8 fs/fs cLOF/cLOF F 10-19 13 1 1 1 0 Scandinavian
[]
Hjortshoj et al. 2009 F6WQ FO-06 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF F 20-39 20 1 1 1 1 1 Faroe Islands
Riise et al. 2002 7ZYG IV-2 BBS4 2bp insertion in exon 8/2bp insertion in exon 8 fs/fs cLOF/cLOF M 10-19 16 1 1 1 0 1 Scandinavian
[]
Hjortshoj et al. 2009 XLU7 FO-07 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 0-9 4 1 1 1 0 Faroe Islands
Riise et al. 2002 DLS1 IX-1 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 30 1 1 1 0 1 0 Scandinavian
[]
Hjortshoj et al. 2009 JLFX FO-08 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 Faroe Islands
Riise et al. 2002 DLS1 IX-2 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 32 1 1 1 0 1 0 Scandinavian
[]