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
Gerth et al. 2008 IT83 2294 BBS10 p.Cys91fs*5/p.Arg103fs*8 cLOF/cLOF F 10-19 16 1 1 1 1 0 1 Canada
Billingsley et al. 2010 6XEU 79z BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS F 10-19 18 1 1 0 0 0 British
Gerth et al. 2008 OZTA 2296 BBS10 p.Cys91Trp/p.Ala474fs*10 MS/cLOF M 10-19 12 1 1 1 1 0 1 Canada
Gerth et al. 2008 OZTA 2621 BBS10 p.Cys91Trp/p.Ala474fs*10 MS/cLOF M 10-19 14 1 1 0 1 0 Canada
Ghadami et al. 2000 YCV0 III-10 BBS3 F 40+ 62 1 1 0 0 0 Iranian
M'hamdi et al. 2013 UH14 BBS-F14-A BBS8 c.459+1G>A/c.459+1G>A splice/splice cLOF/cLOF M 0-9 4 1 1 1 0 1 1 Tunisian
Billingsley et al. 2010 YAGJ 128** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 16 1 1 0 1 Canadian Native Indian
Ghadami et al. 2000 YCV0 III-5 BBS3 M 1 0 1 0 Iranian
Otto et al. 2010 L0I5 FI.2_21 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Ghadami et al. 2000 YCV0 III-9 BBS3 M 1 1 0 Iranian
Otto et al. 2010 L0I5 FI.2_22 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Billingsley et al. 2010 F7X3 2x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 24 1 0 1 0 0 0 1 1 Egyptian
Ghadami et al. 2000 YCV0 IV-10 BBS3 F 20-39 32 1 1 1 0 0 0 Iranian
Otto et al. 2010 L0I5 FI.2_23 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Billingsley et al. 2010 F7X3 3x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 22 1 1 1 0 1 0 1 1 Egyptian
Ghadami et al. 2000 YCV0 IV-11 BBS3 F 20-39 30 1 1 1 0 0 0 Iranian
Otto et al. 2010 L0I5 FI.2_24 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Ghadami et al. 2000 YCV0 IV-14 BBS3 M 10-19 18 1 1 1 0 0 0 Iranian
Otto et al. 2010 4DOC FII.22_21 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF 1 1 1 1 1 NA
Ghadami et al. 2000 YCV0 IV-9 BBS3 F 20-39 33 1 1 1 0 0 1 Iranian
Otto et al. 2010 4DOC FII.22_22 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF 1 1 1 1 1 NA
Billingsley et al. 2012 MESS 59 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF 10-19 13 1 1 0 1! 0 1 1 1 1 East Indian
González‐del Pozo et al. 2013 7KIL II:2 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS F 1 0 1 1 0 0 0 0 Spanish
Otto et al. 2010 AZ5O NK-F1063 BBS16 c.1444delA/c.1627_1630delGATA p.Thr482fs*12/p.Asp543fs*24 cLOF/cLOF 1 1 1 1 India
Branfield Day et al. 2015 NA 15 BBS1 F 20-39 23 1 1 0 NA