Items: 226 - 250 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
Shaheen et al. 2016 FIFS F-1-1 BBS2 c.700C>T/c.700C>T p.Arg234*/p.Arg234* cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 7GBT F-15-21 BBS2 c.1015C>T/c.1015C>T p.Arg339*/p.Arg339* cLOF/cLOF 1 1 1 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-1 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 25 1 0 0 0 0 0 0 0 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
Janssen et al. 2011 ZIWZ AR880 (A2881) -4 BBS10 c.271_272insT/c.271_272insT p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF 1 1 1 0 0 N. European
Abu Safieh et al. 2010 W01J KFSH-FD001-2 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 30 1 0 0 0 0 0 0 0 Saudi Arabian
Davies et al. 2018 N5JK BBS009 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30-39 1 1 1 0 0 0 0 White European
Abu Safieh et al. 2010 W01J KFSH-FD001-3 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 27 1 0 0 0 0 0 0 0 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
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
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
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
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
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
Abu-Safieh et al. 2012 N2IG BBS-F006-A BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF
[]
 1 1 0 1 0 0 0 Saudi Arabian
Shaheen et al. 2016 02YS F-33-57 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 0 Saudi Arabian
Abu-Safieh et al. 2012 N2IG BBS-F006-B BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF 1 1 0 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 NAUR 32 BBS1 p.Met1Val/p.Met1Val MS/MS F 20-39 30 1 1 1 0 0 0 1 1 Croatian
Abu-Safieh et al. 2012 799M BBS-F009-A BBS1 c.124+1G>A/c.951+58C>T p.Leu43Glyfs*44/p.Gly318Valfs*62 cLOF/cLOF
[]
 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 NAUR 57 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 32 1 1 1 0 1 0 1 1 Croatian
Abu-Safieh et al. 2012 799M BBS-F009-B BBS1 c.124+1G>A/c.951+58C>T p.Leu43Glyfs*44/p.Gly318Valfs*62 cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian