Items: 351 - 375 from 899
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
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
Fattahi et al. 2014 VO8X 34754 BBS2 c.1003C>T/c.1003C>T p.Gln335*/p.Gln335* cLOF/cLOF 1 1 1 1 1 Iranian
Fattahi et al. 2014 2X8V 34885 BBS2 c.471G>C/c.471G>C p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF 1 1 1 1 0 Iranian
Fattahi et al. 2014 Y3OD 38498 BBS2 c.256_278dup23/c.256_278dup23 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF 0 1 1 1 1 1 Iranian
Fattahi et al. 2014 WJ64 38931 BBS2 c.1910+1G>T/c.1910+1G>T splice/splice cLOF/cLOF 1 1 1 1 1 Iranian
Fedick et al. 2013 6RJ4 1 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS M 1 1 Ashkenazi Jewish
Fedick et al. 2013 2S6X 2 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS F 1 1 Ashkenazi Jewish
Fedick et al. 2013 PZIT 3 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
Fedick et al. 2013 PZIT 4 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
Bennouna-Greene et al. 2011 4HTC 01.05.07 BBS2 p.Pro134fs*67/p.Leu209fs*21 cLOF/cLOF M 20-39 27 1 1 1 French
M'hamdi et al. 2013 QJ44 BBS-F02-A BBS2 c.345+5G>A/c.345+5G>A splice/splice cLOF/cLOF
[]
M 0-9 6 1 1 1 1 1 0 Tunisian
M'hamdi et al. 2013 FHWS BBS-F07-A BBS2 c.565C>T/c.565C>T p.Arg189*/p.Arg189* cLOF/cLOF F 0-9 8 1 1 1 1 0 0 Tunisian
Branfield Day et al. 2015 NA 9 BBS2 F 10-19 14,3 1 1 1 NA
Harville et al. 2010 G0X5 A2012-II1 BBS2 c.1237C>T/c.1237C>T p.Arg413*/p.Arg413* cLOF/cLOF 1 1 1 0 0 Pakistani
Harville et al. 2010 J9M7 A2025-II1 BBS2 c.68G>C/c.68G>C p.Arg23Pro/p.Arg23Pro MS/MS 1 1 1 0 1 Turkish
Hjortshoj et al. 2010 W986 P1 BBS2 p.Phe221fs*25/p.Phe221fs*25 cLOF/cLOF
[]
F 0-9 6 1 1 1 0 0 Scandinavian
Hjortshoj et al. 2010 Y6V5 P16 BBS2 p.Phe221fs*25/p.Arg216* cLOF/cLOF
[]
M 0-9 5 1 1 1 1 0 1 Scandinavian
Hjortshoj et al. 2010 QC14 P42 BBS2 p.Arg216*/p.Tyr24* cLOF/cLOF
[]
M 10-19 10 1 1 1 1 0 0 Scandinavian
Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
[]
F 10-19 19 1 1 1 1 1 Scandinavian
Hjortshoj et al. 2010 XKZA P57 BBS2 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF
[]
M 0-9 1 1 1 1 1 1 0 Scandinavian
Sathya Priya et al. 2015 PBI3 BBS-F BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 1 0 Indian
Sathya Priya et al. 2015 9FSA BBS-U BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 0 1 0 1 Indian
Sathya Priya et al. 2015 5AB3 BBS-Y BBS2 c.209G>A/c.209G>A p.Ser70Asn/p.Ser70Asn MS/MS 1 1 0 0 1 1 Indian
Innes et al. 2010 KVYU P1 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 10-19 19 1 1 1 0 1 1 1 Hutterite
Innes et al. 2010 BF8A P2 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 0-9 0,5 1 1 1 Hutterite