Items: 701 - 725 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
Castro-Sanchez et al. 2015 IZKQ GBB4 (107) BBS12 p.Gly361fs*21/p.Thr380fs*2 cLOF/cLOF M 20-39 24 0 1 1 1 1 0 1 1 Spanish
Castro-Sanchez et al. 2015 9VM7 M250-(127)‡ BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF M 40+ 53 1 1 1 0 1 0 0 Spanish
Castro-Sanchez et al. 2015 9VM7 M250-(130)‡ BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF M 40+ 46 1 1 1 1 1 1 1 Spanish
Castro-Sanchez et al. 2015 T2D0 M333-(826) BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF F 20-39 37 1 1 0 1 1 0 0 Spanish
Castro-Sanchez et al. 2015 U7OU RP1011 (1184)§ BBS12 p.Gly540Asp/p.Gly540Asp MS/MS F 40+ 40 1 1 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 JJXV B17 (132)§ BBS6 p.Leu454Pro/p.Leu454Pro MS/MS F 40+ 43 1 1 1 1 0 1 1 Spanish
Castro-Sanchez et al. 2015 POGM M79 (1608)§ BBS6 p.Gly250Arg/p.Gly250Arg MS/MS F 20-39 36 1 1 1 1 1 1 0 Spanish
Bujakowska et al. 2015 ARFT Family 1, II.1 BBS20 c.1525-1G>A/c.4701C>A splice/p.His1567Gln cLOF/MS 10-19 15 1 1 1 0 1 White European
Bujakowska et al. 2015 ARFT Family 1, II.2 BBS20 c.1525-1G>A/c.4701C>A splice/p.His1567Gln cLOF/MS 20-39 22 1 1 0 0 1 White European
Bujakowska et al. 2015 L077 Family 2, II.1 BBS20 c.4815T>G/c.4815T>G p.Asp1605Glu/p.Asp1605Glu MS/MS 20-39 33 1 0 0 0 White European
Bujakowska et al. 2015 ZUX3 Family 3, II.2 BBS20 c.770T>C/c.3112-5T>A p.Leu257Pro/splice MS/cLOF 20-39 38 1 0 0 White European
Braun et al. 2014 NA 2 BBS1 M 10-19 17 1 1 French
Braun et al. 2014 NA 3 BBS1 M 20-39 24 1 1 French
Braun et al. 2014 NA 4 BBS1 F 40+ 44 1 1 French
Braun et al. 2014 NA 5 BBS1 M 20-39 23 0 1 French
Braun et al. 2014 NA 6 BBS1 M 20-39 27 1 1 French
Braun et al. 2014 NA 7 BBS1 F 20-39 27 0 0 French
Braun et al. 2014 NA 13 BBS1 M 20-39 22 0 0 French
Braun et al. 2014 NA 8 BBS10 F 20-39 20 1 1 French
Braun et al. 2014 NA 11 BBS10 M 20-39 37 1 0 French
Braun et al. 2014 NA 17 BBS10 M 20-39 25 1 0 French
Braun et al. 2014 NA 20 BBS10 F 20-39 27 1 1 French
Braun et al. 2014 NA 18 BBS12 F 20-39 22 1 1 French
Braun et al. 2014 NA 19 BBS12 M 20-39 39 1 1 French
Braun et al. 2014 NA 16 BBS3 M 10-19 18 1 0 French