Items: 51 - 75 from 899
CSV export Reset filters
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
Janssen et al. 2011 ODT5 F1 (A2891)-5 BBS10 c.271_272insT/c.391delC p.Cys91fs*5/p.Gln131fs*4 cLOF/cLOF 1 1 1 1 1 1 N. 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
Abu Safieh et al. 2010 W01J KFSH-FD001-4 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS M 20-39 22 1 0 0 0 0 0 0 0 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
Janssen et al. 2011 RZU9 F523 0 BBS10 c.539G>A/c.539G>A p.Gly180Glu/p.Gly180Glu MS/MS 1 N. 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
[]
 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
Janssen et al. 2011 HWI6 AR248 (A2843) -5 BBS12 c.998G>A/c.998G>A p.Gly333Glu/p.Gly333Glu MS/MS 1 1 1 1 1 N. 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
Janssen et al. 2011 DRZF A1155 0 BBS2 c.947G>A/c.947G>A p.Gly316Asp/p.Gly316Asp MS/MS 0 1 0 1 1 N. European
Shaheen et al. 2016 ZKT1 F-209 293 BBS20 c.4630C>T/c.4630C>T p.Arg1544Cys/p.Arg1544Cys MS/MS 1 1 Saudi Arabian
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
Janssen et al. 2011 WUGA A1885 0 BBS2 c.823C>T/c.1895G>C p.Arg275*/p.Arg632Pro cLOF/MS 1 0 0 1 0 USA
Shaheen et al. 2016 GWM7 F-11-16 BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF 1 1 1 1 Saudi Arabian
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
Davies et al. 2018 AMYR BBS015 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 0 0 1 0 0 White European
Janssen et al. 2011 VL78 A2296 0 BBS2 c.823C>T/c.823C>T p.Arg275*/p.Arg275* cLOF/cLOF 0 1 1 1 USA
Shaheen et al. 2016 GWM7 F-11-17 BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF 1 1 1 1 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
Deveault et al. 2011 2YSJ 1 BBS1 p.Arg160Gln/p.Arg160Gln MS/MS F 20-39 30 1 1 1 0 0 0 Swiss
Janssen et al. 2011 NZSY A3436 0 BBS2 c.940delA/c.IVS6+2 p.Ile314fs*11/splice cLOF/cLOF 0 1 1 1 Turkey