Items: 126 - 150 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
Deveault et al. 2011 14M0 77 BBS2 p.Gly81Cys/p.Cys307Trp MS/MS M 20-39 31 1 1 1 1 1 0 1 Caucasian
Shaheen et al. 2016 F39D F-76-138 BBS9 c.2115+1G>A/c.2115+1G>A p.?/p.? ?/? 1 1 1 Saudi Arabian
Deveault et al. 2011 14M0 78 BBS2 p.Gly81Cys/p.Cys307Trp MS/MS M 20-39 29 1 1 1 1 1 0 1 1 Caucasian
Deveault et al. 2011 75UO 17 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
[]
 F 0-9 7 1 1 1 1 Denea
Kerr et al. 2015 IULP 5 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 13 1 1 1 1 Canadian
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
Deveault et al. 2011 75UO 16 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 20-39 30 1 1 1 1 0 Denea
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
[]
Kerr et al. 2015 G3C7 7b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 1 French/Canadian
[]
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
[]
Deveault et al. 2011 75UO 82 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
[]
 M 20-39 22 1 1 1 1 1 1 Denea
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
[]
Deveault et al. 2011 UHVP 123 BBS2 p.Lys39Lys (splice)/p.Arg324* cLOF/cLOF M 20-39 23 1 1 1 0 0 0 1 Caucasian
Schaefer et al. 2011(a) DRXS I.2.21 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 20-39 37 1 0 0 1 French
Deveault et al. 2011 NZLP 130 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 0-9 0 1 1 1 Lebanese
Kerr et al. 2015 OVPA 10c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 18 1 1 1 1 0 1 1 German/Italian
[]
Schaefer et al. 2011(a) DRXS I.2.22 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF F 20-39 22 1 1 0 1 1 French
Deveault et al. 2011 NZLP 142 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 10-19 11 1 1 1 1 1 1 1 Lebanese
Kerr et al. 2015 OVPA 11c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 20-39 20 1 1! 1 1! 0 1 1 German/Italian
[]
Schaefer et al. 2011(a) DRXS I.2.23 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF F 10-19 14 1 1 0 1 1 French
Deveault et al. 2011 O815 81 BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF F 10-19 17 1 1 1 0 0 1 1 0 NA
Kerr et al. 2015 KLK2 22 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF F 10-19 15 1 1 0 1 Canadian
Schaefer et al. 2011(a) DRXS I.2.24 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 0-9 8 1 0 0 1 1 French
Kerr et al. 2015 ZRXG 13 BBS2 p.Tyr24*/p.Arg703* cLOF/cLOF F 20-39 28 1 1 1 1! 0 1 Polish
[]
Schaefer et al. 2011(a) DRXS I.2.25 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 20-39 31 1 1 0 1 1 1 French
1 … 4 5 6 7 8 … 36