Items: 726 - 750 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
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
van Huet et al. 2013 KOTG B-V:7 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 20-39 26 1 0 1 0 0 0 NA
Bee et al. 2015 PTO2 II:2 BBS2 c.1864C>T/c.1932T>A p.Arg622*/p.Tyr644* cLOF/cLOF F 20-39 37 1 1 1 1 1 Malay
van Huet et al. 2013 F1AK C-II:1 BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 20-39 36 1 0 0 0 0 0 NA
van Huet et al. 2013 F1AK C-II:2 BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 20-39 30 1 0 0 0 0 0 NA
Bennouna-Greene et al. 2011 GIZN 01.03.04 BBS1 p.Met390Arg/p.Glu384* MS/cLOF F 20-39 28 1 1 0 French
van Huet et al. 2013 DRB7 D-IV:1 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 20-39 38 1 0 0 0 0 0 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
Bennouna-Greene et al. 2011 TFG2 05.02.07 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 34 1 1 0 French
White et al. 2006 TGDP Patient A BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 20-39 24 1 1 1 1 1 0 0 1 Omani
Bennouna-Greene et al. 2011 Q3SV 06.01.01 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 33 1 0 0 French
Maria et al. 2016 M2A5 F05 V:2 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS M 20-39 20 1 1 0 1 1 0 Pakistani
Bennouna-Greene et al. 2011 2KMJ 06.02.05 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 21 1 0 0 French
Maria et al. 2016 M2A5 F05 V:4 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS F 20-39 25 1 1 0 1 0 Pakistani
Bennouna-Greene et al. 2011 XI3Q 1.16.25 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 38 1 1 0 French
Maria et al. 2016 AOD6 F01 IV:2 BBS3 c.534A>G/c.534A>G p.Gln178Gln (splice)/p.Gln178Gln (splice) cLOF/cLOF M 20-39 32 1 1 0 1 1 Pakistani
Yamamura et al. 2017 QFG2 patient 2 BBS6 c.986-1G>A/c.986-1G>A splice/splice cLOF/cLOF F 20-39 27 1 1 1 1 1 1 0 Japanese
Bennouna-Greene et al. 2011 L1UE 01.06.06 BBS10 p.Cys91fs*5/p.Leu348fs*13 cLOF/cLOF M 20-39 28 1 1 0 French
Yang et al. 2008 TD84 IV:2 BBS7 c.1666A>G/c.1666A>G p.Ser556Arg/p.Ser556Arg MS/MS M 20-39 37 1 1 1 1 1 1 1 Chinese
Yang et al. 2008 TD84 IV:4 BBS7 c.1666A>G/c.1666A>G p.Ser556Arg/p.Ser556Arg MS/MS M 20-39 32 1 1 1 1 1 1 1 Chinese
Bennouna-Greene et al. 2011 NK6A 1.10.19 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 34 1 1 1 French
Bennouna-Greene et al. 2011 LCQ5 1.12.21 BBS10 p.Cys91fs*5/p.Tyr321* cLOF/cLOF M 20-39 30 1 1 0 French
Bennouna-Greene et al. 2011 BJT1 01.04.05 BBS12 p.Arg355*/p.Arg355* cLOF/cLOF M 20-39 23 0 1 1 French
Bennouna-Greene et al. 2011 JF1V 06.03.09 BBS12 p.Pro195Leu/p.Ile346Thr MS/MS M 20-39 37 1 1 1 French