Items: 551 - 575 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
M'hamdi et al. 2013 H2VL BBS-F11-B BBS1 c.448C>T/c.448C>T p.Arg146*/p.Arg146* cLOF/cLOF F 40+ 40 1 1 0 1 0 Tunisian
M'hamdi et al. 2013 7H0X BBS-F12-A BBS1 c.39delA/c.39delA p.Ala14Leufs*28/p.Ala14Leufs*28 cLOF/cLOF
[]
 F 10-19 14 0 0 0 1 0 1 Tunisian
Gerth et al. 2008 BBNF 2301 BBS1 p.Asp8Asp (splice)/p.Arg483* cLOF/cLOF F 10-19 16 1 1 1 1 1 1 Canada
Gerth et al. 2008 O76S 2512 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 29 1 1 0 0 0 0 Canada
M'hamdi et al. 2013 0P3E BBS-F08-B BBS10 c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC p.Ser396Leufs*6/p.Ser396Leufs*6 cLOF/cLOF
[]
 F 10-19 11 1 1 0 1 1 1 Tunisian
Billingsley et al. 2010 PXHX 60yy BBS10 p.Lys188Thr/p.Ala636Val MS/MS
[]
 F 0-9 6 1 0 1 1 1 0 1 Turkish
Gerth et al. 2008 NSTJ 2597 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 21 1 1 1 1 0 0 Canada
Gerth et al. 2008 TM2Q 2213 BBS10 p.Cys91Trp/p.Val707*fs*1 MS/cLOF F 10-19 14 1 1 1 1 0 1 Canada
M'hamdi et al. 2013 FHWS BBS-F07-A BBS2 c.565C>T/c.565C>T p.Arg189*/p.Arg189* cLOF/cLOF F 0-9 8 1 1 1 1 0 0 Tunisian
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
M'hamdi et al. 2013 5XR9 BBS-F03-A BBS4 deletion of exons 4-6/deletion of exons 4-6 cLOF/cLOF
[]
 F 0-9 4,5 1 1 1 0 1 0 Tunisian
Billingsley et al. 2010 6XEU 79z BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS F 10-19 18 1 1 0 0 0 British
M'hamdi et al. 2013 U5TO BBS-F13-A BBS5 c.149T>G/c.149T>G p.Leu50Arg/p.Leu50Arg MS/MS
[]
 F 10-19 11 1 1 1 1 0 0 Tunisian
Billingsley et al. 2010 6XEU 80z BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS
[]
 F 10-19 15 1 1 1 0 0 British
M'hamdi et al. 2013 BK29 BBS-F10-A BBS6 c.1272+1G>A/c.1272+1G>A splice/splice cLOF/cLOF
[]
 F 0-9 7 1 1 1 1 1 0 Tunisian
Billingsley et al. 2010 YAGJ 126** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
[]
 F 0-9 4 1 1 1 1 Canadian Native Indian
Ghadami et al. 2000 YCV0 III-10 BBS3 F 40+ 62 1 1 0 0 0 Iranian
Billingsley et al. 2010 3PNW 24{ BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 0-9 6 1 0 1 1 1 0 1 Pakistani
Ghadami et al. 2000 YCV0 IV-10 BBS3 F 20-39 32 1 1 1 0 0 0 Iranian
Ghadami et al. 2000 YCV0 IV-11 BBS3 F 20-39 30 1 1 1 0 0 0 Iranian
Billingsley et al. 2010 3PNW 56{ BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 10-19 15 1 1 1 0 1 0 Pakistani
Ghadami et al. 2000 YCV0 IV-9 BBS3 F 20-39 33 1 1 1 0 0 1 Iranian
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
Branfield Day et al. 2015 NA 15 BBS1 F 20-39 23 1 1 0 NA
Branfield Day et al. 2015 NA 1 BBS10 F 10-19 15,2 1 1 1 NA