Items: 376 - 400 from 899
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Source
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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
Pereiro et al. 2010 0KMP M446 II.2 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 1 0 Caucasian
Branfield Day et al. 2015 NA 9 BBS2 F 10-19 14,3 1 1 1 NA
Harville et al. 2010 WRRU A2003-II1 BBS12 c.1589T>C/c.1589T>C p.Leu530Pro/p.Leu530Pro MS/MS 1 0 1 1 1 1 Pakistani
Pereiro et al. 2010 EO6P B17 II.1 BBS6 p.Leu454Pro/p.Leu454Pro MS/MS 1 1 1 1 1 Caucasian
Branfield Day et al. 2015 NA 8 BBS4 F 10-19 15,1 1 1 0 French
Harville et al. 2010 S9R9 A2015-II1 BBS12 c.1589T>C/c.1589T>C p.Leu530Pro/p.Leu530Pro MS/MS 1 0 1 1 1 1 Pakistani
Pereiro et al. 2010 M9QZ M79 II.2 BBS6 p.Gly250Arg/p.Gly250Arg MS/MS 1 1 1 1 Caucasian
Branfield Day et al. 2015 NA 10 BBS4 M 10-19 15,6 1 0 0 Iraqi
Harville et al. 2010 LVPF A2017-II1 BBS12 c.1483_1484delGA/c.1483_1484delGA p.Glu495fs*4/p.Glu495fs*4 cLOF/cLOF 1 1 1 0 0 Turkish
Phelps et al. 2017 MDPS UW013-3 BBS14
[]
 1 0 0 0 European
Branfield Day et al. 2015 NA 11 BBS4 F 10-19 18 1 0 0 Iraqi
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
Phelps et al. 2017 MDPS UW013-4 BBS14 1 0 0 0 European
Branfield Day et al. 2015 NA 19 BBS6 M 20-39 22,2 1 1 1 NA
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
Phelps et al. 2017 6S11 UW045-3 BBS14 0 0 0 0 European
Branfield Day et al. 2015 NA 20 BBS6 M 20-39 22,4 1 0 0 Portugese
Harville et al. 2010 JVOM A2008-II1 BBS4 c.IVS3-2A>G/c.IVS3-2A>G splice/splice cLOF/cLOF 1 1 1 1 0 USA
Phelps et al. 2017 6S11 UW045-4 BBS14 0 0 1 0 European
Branfield Day et al. 2015 NA 14 BBS7 F 10-19 18,1 1 1 0 Peruvian
Phelps et al. 2017 HKJC UW220-3 BBS14 1 0 0 0 European
Branfield Day et al. 2015 NA 5 BBS8 F 10-19 14,6 1 0 0 Pakistani
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
Phelps et al. 2017 80NL UW244-3 BBS14 1 0 1 0 European
Branfield Day et al. 2015 NA 6 BBS8 F 10-19 15,4 1 0 1 NA