Items: 851 - 875 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 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 LOEF A2011-II1 BBS8 c.122G>A/c.122G>A p.Trp41*/p.Trp41* cLOF/cLOF 1 1 1 1 1 0 Turkish
Janssen et al. 2011 X0N3 PB206 (A2024) 0 BBS1 c.IVS5-1G>C/c.IVS5-1G>C splice/splice cLOF/cLOF 1 1 1 1 1 1 Turkish
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
Janssen et al. 2011 WUGA A1885 0 BBS2 c.823C>T/c.1895G>C p.Arg275*/p.Arg632Pro cLOF/MS 1 0 0 1 0 USA
Janssen et al. 2011 VL78 A2296 0 BBS2 c.823C>T/c.823C>T p.Arg275*/p.Arg275* cLOF/cLOF 0 1 1 1 USA
Schaefer et al. 2011(a) ILWY 1063 BBS16 c.1444delA/c.1627_1630delGATA p.Thr482Serfs*11/p.Asp543Alafs*23 cLOF/cLOF 1 1 0 1 USA
Schaefer et al. 2011(a) V42F AR37-02 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF M 20-39 27 1 1 0 1 0 USA
[]
Schaefer et al. 2011(a) V42F AR37-05 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF M 20-39 22 1 1 0 1 1 0 USA
[]
Schaefer et al. 2011(a) V42F AR37-07 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF F 10-19 11 1 1 0 1 1 1 USA
[]
Azari et al. 2006 H27Y P1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 16 0 1 1 1 1 USA
Azari et al. 2006 IZFY P10# BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 48 0 1 1 USA
Azari et al. 2006 PUF2 P2 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 10-19 16 1 1 1 USA
Azari et al. 2006 R59Q P3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 0 1 1 1 USA
Azari et al. 2006 6SEB P4 BBS1 p.Met390Arg/p.Leu518Pro MS/MS F 10-19 19 1 1 USA
Azari et al. 2006 C18M P5 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 20 1 1 USA
Azari et al. 2006 YPW2 P6 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30 1 1 USA
Azari et al. 2006 GBVH P7¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40 0 1 USA
Azari et al. 2006 GBVH P8¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 1 USA
Azari et al. 2006 IZFY P9# BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 1 USA