Items: 176 - 200 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
Ethnicity
Notes
Gerth et al. 2008 QWKB 2293 BBS1 p.Met390Arg/p.Asn524del MS/MS M 20-39 21 1 1 0 0 1 Canada
Billingsley et al. 2010 CE16 22* BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 14 1 0 1 1 0 1 0 1 German/Italian
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
Billingsley et al. 2010 CE16 55* BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 16 1 1 1 0 0 1 0 1 German/Italian
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
Billingsley et al. 2010 PXHX 65y BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
[]
 M 20-39 27 1 1 1 1 1 0 0 1 South African Black
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
Billingsley et al. 2010 PXHX 66y BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
[]
 M 10-19 10 1 1 1 1 1 0 1 1 South African Black
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
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
Billingsley et al. 2010 YAGJ 128** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 16 1 1 0 1 Canadian Native Indian
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
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
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
Billingsley et al. 2012 MESS 40 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF
[]
 10-19 16 1 1 0 1 0 1 0 0 1 East Indian
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
Harville et al. 2010 CCK1 A2876-II1(AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 0 0 0 1 0 1 Europe
Harville et al. 2010 CCK1 A2876-II2 (AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 1 0 1 Europe
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 OWHJ A2885-II1 (AKK65) BBS1 c.IVS2+1G>A/c.IVS2+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Pereiro et al. 2010 CA0L RP1011 II.1 BBS12 p.Gly540Asp/p.Gly540Asp MS/MS 1 1 1 1 1 Caucasian
Harville et al. 2010 OWHJ A2885-II2 (AKK65) BBS1 c.IVS2+1G>A/c.IVS2+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Harville et al. 2010 ENNE A2023-II1 BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF 1 1 1 1 1 1 1 Turkish
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 6FMK A2889-II2 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 1 1 Israel Arab
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