Items: 576 - 600 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
Davies et al. 2018 XSEE BBS008 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 1 1 0 0 0 White European
Davies et al. 2018 N5JK BBS009 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30-39 1 1 1 0 0 0 0 White European
Davies et al. 2018 RM0J BBS013 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 20-29 1 1 1 1 1 0 1 White European
Davies et al. 2018 AMYR BBS015 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 0 0 1 0 0 White European
Deveault et al. 2011 1R6I 39 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 25 1 1 1 0 0 0 1 English/Irish
Deveault et al. 2011 QJBM 139 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 0 1 1 0 1 Nicaraguan
Deveault et al. 2011 0QQE 21 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 29 1 1 1 1 0 0 1 1 English/German/Canadian
Deveault et al. 2011 W8RW 45 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 25 1 1 1 0 1 1 1 English/Scottish/French/Canadian
Deveault et al. 2011 J17C 75 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 1 1 1 NA
Deveault et al. 2011 NRG3 133 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 21 1 0 1 1 0 1 1 German/Irish/Swedish/Hungarian
Kerr et al. 2015 IULP 5 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 13 1 1 1 1 Canadian
Esposito et al. 2017 3JWE P.4 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 70 1 1 Italian
Esposito et al. 2017 0HCQ P.5 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 Italian
Azari et al. 2006 H27Y P1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 16 0 1 1 1 1 USA
Azari et al. 2006 IZFY P10# BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 48 0 1 1 USA
Azari et al. 2006 R59Q P3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 0 1 1 1 USA
Azari et al. 2006 C18M P5 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 20 1 1 USA
Azari et al. 2006 YPW2 P6 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30 1 1 USA
Estrada-Cuzcano et al. 2012 (a) EOHE 1/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 0 0 0 Netherland
Azari et al. 2006 GBVH P7¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40 0 1 USA
Estrada-Cuzcano et al. 2012 (a) 53FP 10/Fc BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 0 0 0 0 0 French
Azari et al. 2006 GBVH P8¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 1 USA
Estrada-Cuzcano et al. 2012 (a) ONMF 11/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 1 0 0 Italian
Azari et al. 2006 IZFY P9# BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 1 USA
Estrada-Cuzcano et al. 2012 (a) 9FZ4 12/F BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 1 0 0 0 0 French