Items: 826 - 850 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
Deveault et al. 2011 NZLP 142 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 10-19 11 1 1 1 1 1 1 1 Lebanese
Estrada-Cuzcano et al. 2012 (a) 5JXT 14/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 1 0 0 1 0 German
Young et al. 1998 VNDY 14 BBS3 M 40+ 51 1 0 1 0 1 Newfoundland
Branfield Day et al. 2015 NA 14 BBS7 F 10-19 18,1 1 1 0 Peruvian
Braun et al. 2014 NA 14 BBS9 M 20-39 27 1 0 French
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 FKM6 138 BBS10 c.197+1G>T/ splice/p.Leu600Ser cLOF/MS M 10-19 14 1 0 1 0 0 1 Mexican/Norwegian/Danish
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
Deveault et al. 2011 NZLP 130 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 0-9 0 1 1 1 Lebanese
Estrada-Cuzcano et al. 2012 (a) HQVO 13/F BBS1 p.Met390Arg/p.Arg268Pro MS/MS F 1 1 1 0 0 0 0 0 Netherland
Kerr et al. 2015 ZRXG 13 BBS2 p.Tyr24*/p.Arg703* cLOF/cLOF F 20-39 28 1 1 1 1! 0 1 Polish
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Ece Solmaz et al. 2015 COR8 13 BBS9 c.102_112+2delAAATGGACAAGGT/c.102_112+2delAAATGGACAAGGT p.Asn35*/p.Asn35* cLOF/cLOF 0-9 0,6 0 1 1 0 0 0 0 0 0 Turkish
Suzuki et al. 2016 ZTJ4 13 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Branfield Day et al. 2015 NA 13 BBS9 F 20-39 20,9 1 1 0 NA
Braun et al. 2014 NA 13 BBS1 M 20-39 22 0 0 French
Deveault et al. 2011 JTJM 129 BBS1 p.Met390Arg/splice MS/cLOF M 0-9 9 1 1 1 1 0 1 1 Caucasian
Billingsley et al. 2010 YAGJ 128** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 16 1 1 0 1 Canadian Native Indian
Deveault et al. 2011 GZYP 128 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 10 0 0 1 1 1 Denea
Deveault et al. 2011 RRKI 127 BBS12 p.Ser578*/p.Ser578* cLOF/cLOF F 10-19 11 1 1 1 1 1 1 1 1 El-Salvadorian
Billingsley et al. 2010 YAGJ 126** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
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 F 0-9 4 1 1 1 1 Canadian Native Indian
Deveault et al. 2011 GZYP 126 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
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 F 0-9 4 1 1 1 1 Denea
Deveault et al. 2011 XBKC 124 BBS12 p.Gln293Glu/p.Phe372*fs*1 MS/cLOF F 40+ 64 1 1 1 0 1 1 0 Caucasian
Deveault et al. 2011 UHVP 123 BBS2 p.Lys39Lys (splice)/p.Arg324* cLOF/cLOF M 20-39 23 1 1 1 0 0 0 1 Caucasian
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
Kerr et al. 2015 XOZA 12 BBS10 p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF F 10-19 10 1 1 1 0 0 0 Canadian