Items: 451 - 475 from 899
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
Iannaccone et al. 2005 M1KN pat1 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF M 20-39 28 1 1 0 0 1 0 Italian
Castro-Sanchez et al. 2015 9VM7 M250-(127)‡ BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF M 40+ 53 1 1 1 0 1 0 0 Spanish
Iannaccone et al. 2005 M1KN pat3 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF M 20-39 27 1 1 0 0 1 1 0 Italian
Innes et al. 2010 KVYU P1 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 10-19 19 1 1 1 0 1 1 1 Hutterite
Castro-Sanchez et al. 2017 UY2P Case 3 BBS2 c.1932T>A/c.1932T>A p.Tyr644*/p.Tyr644* cLOF/cLOF M 0-9 6 1 1 1 0 0 Spanish
Cox et al. 2012 D2VE PT2 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 1 1 0 0 0 USA
Cox et al. 2012 PZDS PT3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 0 0 0 USA
Davies et al. 2018 RJCD BBS005 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 60+ 1 1 1 0 0 1 0 White European
Davies et al. 2018 VQKL BBS007 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Shaheen et al. 2016 7GBT F-15-22 BBS2 c.1015C>T/c.1015C>T p.Arg339*/p.Arg339* cLOF/cLOF 1 1 1 1 Saudi Arabian
Davies et al. 2018 XSEE BBS008 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 1 1 0 0 0 White European
Shaheen et al. 2016 NLII F-18-25 BBS2 c.805_1910del/c.805_1910del p.Val269Glufs*12/p.Val269Glufs*12 cLOF/cLOF 1 1 1 Saudi Arabian
Davies et al. 2018 YJGI BBS010 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF M 40+ 50-59 1 1 1 1 0 0 0 White European
Shaheen et al. 2016 NLII F-18-26 BBS2 c.805_1910del/c.805_1910del p.Val269Glufs*12/p.Val269Glufs*12 cLOF/cLOF 1 1 1 Saudi Arabian
Davies et al. 2018 YP1P BBS011 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF M 40+ 50-59 1 1 0 1 0 0 0 White European
Shaheen et al. 2016 K8I8 F-38-62 BBS2 c.508G>A/c.508G>A p.Asp170Asn/p.Asp170Asn MS/MS 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 SZVM BBS-F001-A BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF
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1 1 1 1 1 1 1 0 Saudi Arabian
Davies et al. 2018 0EMR BBS012 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF F 40+ 50-59 1 1 0 1 0 0 0 White European
Shaheen et al. 2016 FMMH F-78-140 BBS2 c.943C>T/c.943C>T p.Arg315Trp/p.Arg315Trp MS/MS 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 SZVM BBS-F001-B BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 1 1 1 1 1 0 Saudi Arabian
Davies et al. 2018 RM0J BBS013 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 20-29 1 1 1 1 1 0 1 White European
Abu-Safieh et al. 2012 VXBV BBS-F002-A BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Davies et al. 2018 X08Z BBS014 BBS1 p.Met390Arg/p.Gly73* MS/cLOF F 20-39 30-39 1 1 1 1 1 1 0 White European
Abu-Safieh et al. 2012 VXBV BBS-F002-B BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 VXBV BBS-F002-C BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 1 1 1 0 0 0 Saudi Arabian