Items: 76 - 100 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
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Notes
Harville et al. 2010 2RC7 A2880-II1 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 0 1 1 Europe
Harville et al. 2010 2RC7 A2880-II2 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 0 Europe
Harville et al. 2010 WDU9 A2875-II1 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 1 1 1 Europe
Harville et al. 2010 WDU9 A2875-II2 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 Europe
Lim et al. 2014 NA 1 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lim et al. 2014 NA 2 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lim et al. 2014 NA 3 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Phelps et al. 2017 MDPS UW013-3 BBS14
[]
 1 0 0 0 European
Phelps et al. 2017 MDPS UW013-4 BBS14 1 0 0 0 European
Phelps et al. 2017 6S11 UW045-3 BBS14 0 0 0 0 European
Phelps et al. 2017 6S11 UW045-4 BBS14 0 0 1 0 European
Phelps et al. 2017 HKJC UW220-3 BBS14 1 0 0 0 European
Phelps et al. 2017 80NL UW244-3 BBS14 1 0 1 0 European
Phelps et al. 2017 80NL UW244-4 BBS14 1 0 1 1 European
Phelps et al. 2017 7J4Q UW259-3 BBS14
[]
 0 0 0 0 European
Phelps et al. 2017 SWCP UW263-3 BBS14 1 0 1 0 European
Phelps et al. 2017 MI6E UW282-3 BBS14
[]
 1 0 1 0 European
Phelps et al. 2017 MI6E UW282-4 BBS14
[]
 1 0 0 0 European
Phelps et al. 2017 5LKL UW112-3 BBS20 1 0 1 1 European
Phelps et al. 2017 5LKL UW112-4 BBS20
[]
 0 0 1 1 European
Katsanis et al. 2000 0DJ3 AR237 1 BBS6 p.Tyr37Cys/p.Tyr37Cys MS/MS 1 1 1 European/American
[]
Katsanis et al. 2000 L1JD AR301 BBS6 p.Tyr58Ala/p.Tyr58Ala MS/MS 1 1 1 0 European/American
Katsanis et al. 2001 QDX9 AR029² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 European/American
Katsanis et al. 2001 4RJW AR171² BBS2 p.Asp104Ala/p.Arg634Pro MS/MS 1 1 1 0 0 European/American
Katsanis et al. 2001 ZH2A AR241\ BBS2 p.Arg315Gln/p.Arg315Gln MS/MS
[]
 1 1 1 1 0 European/American