Items: 401 - 425 from 899
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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
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Notes
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
Harville et al. 2010 SRNJ A2005-II1 BBS7 c.688T>C/c.688T>C p.Trp320Arg/p.Trp320Arg MS/MS 0 1 1 1 1 1 Turkish
Phelps et al. 2017 SWCP UW263-3 BBS14 1 0 1 0 European
Braun et al. 2014 NA 2 BBS1 M 10-19 17 1 1 French
Phelps et al. 2017 MI6E UW282-3 BBS14
[]
 1 0 1 0 European
Braun et al. 2014 NA 3 BBS1 M 20-39 24 1 1 French
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
Phelps et al. 2017 MI6E UW282-4 BBS14
[]
 1 0 0 0 European
Braun et al. 2014 NA 4 BBS1 F 40+ 44 1 1 French
Harville et al. 2010 6FMK A2889-II1 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 0 Israel Arab
Phelps et al. 2017 5LKL UW112-3 BBS20 1 0 1 1 European
Braun et al. 2014 NA 5 BBS1 M 20-39 23 0 1 French
Phelps et al. 2017 5LKL UW112-4 BBS20
[]
 0 0 1 1 European
Braun et al. 2014 NA 6 BBS1 M 20-39 27 1 1 French
Harville et al. 2010 LOEF A2011-II1 BBS8 c.122G>A/c.122G>A p.Trp41*/p.Trp41* cLOF/cLOF 1 1 1 1 1 0 Turkish
Qi et al. 2017 TTDR BBS6 c.1175C>T/c.1192C>T p.Thr392Met/p.Gln398* MS/cLOF
[]
 F 10-19 10 1 0 1 1 1 Chinese
Braun et al. 2014 NA 7 BBS1 F 20-39 27 0 0 French
Rahner et al. 2016 TUBA II.1 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 20-39 20 1 0 1 0 0 Moroccan
Braun et al. 2014 NA 13 BBS1 M 20-39 22 0 0 French
Rahner et al. 2016 TUBA II.3 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 10-19 15 1 0 1 0 0 Moroccan