Items: 176 - 200 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
Azari et al. 2006 IZFY P9# BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 1 USA
Lim et al. 2014 NA 1 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lim et al. 2014 NA 2 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lim et al. 2014 NA 3 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Badano et al. 2003 V1PO PB009-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 F 20-39 32 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-04 BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 M 20-39 35 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-05 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 0 Northern European
Lindstrand et al. 2014 2JO8 44/4 BBS7 c.87_88delCA/c.87_88delCA p.His29Glnfs*12/p.His29Glnfs*12 cLOF/cLOF
[]
 1 1 1 0 1 Israel
Badano et al. 2003 8BCA PB061-03 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF F 20-39 20 0 0 0 Northern European
Lindstrand et al. 2016 48D6 AR240-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 F 20-39 21 1 1 1 1 0 0 NA
Ullah et al. 2017 VYZR B V-1 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 0-9 6 1 1 1 0 Pakistani
Badano et al. 2003 8BCA PB061-04 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF M 10-19 18 1 1 1 Northern European
Baker et al. 2010 NA NA BBS1 F 10-19 17 0 1 0 1 United Kingdom
Lindstrand et al. 2016 272G AR380-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 0-9 9 1 1 1 1 0 0 NA
Baker et al. 2010 NA NA BBS1 F 20-39 24 1 1 1 United Kingdom
Lindstrand et al. 2016 GW00 AR888-03 BBS1 c.1645G>T/deletion of exons 1-11 p.Glu549*/deletion of exons 1-11 cLOF/cLOF
[]
 M 0-9 4 1 1 1 1 1 1 Latino
[]
Ullah et al. 2017 D8UI C IV-6 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS F 10-19 10 1 1 1 1 0 Pakistani
Baker et al. 2010 NA NA BBS1 F 10-19 18 1 1 1 United Kingdom
Lindstrand et al. 2016 KOBZ AR883-04 BBS10 c.2119_2120delGT/c.2118_2119delTG p.Val707*/p.Val707fs* cLOF/cLOF
[]
 M 0-9 4 1 1 1 1 1 NA
Baker et al. 2010 NA NA BBS1 F 20-39 21 1 1 United Kingdom
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 10-19 17 1 1 Netherland
Baker et al. 2010 NA NA BBS1 M 20-39 27 1 1 1 United Kingdom
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:2 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 10-19 10 1 1 Netherland
Bee et al. 2015 PTO2 II:2 BBS2 c.1864C>T/c.1932T>A p.Arg622*/p.Tyr644* cLOF/cLOF F 20-39 37 1 1 1 1 1 Malay
Fan et al. 2004 GC3Y PID 22 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 42 1 1 0 0 Newfoundland
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