Items: 626 - 650 from 899
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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
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
Harville et al. 2010 ENNE A2023-II1 BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF 1 1 1 1 1 1 1 Turkish
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
Harville et al. 2010 E9UF A2027-II1 BBS5 c.2T>A/c.2T>A p.Met1Lys/p.Met1Lys cLOF/cLOF 1 0 1 1 0 Pakistani
Phelps et al. 2017 80NL UW244-4 BBS14 1 0 1 1 European
Branfield Day et al. 2015 NA 12 BBS9 F 20-39 23,8 1 1 1 NA
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
Phelps et al. 2017 7J4Q UW259-3 BBS14
[]
 0 0 0 0 European
Branfield Day et al. 2015 NA 13 BBS9 F 20-39 20,9 1 1 0 NA