Items: 1 - 25 from 899
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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
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Notes
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
Janssen et al. 2011 8Y4G AR707 (A2864)-9 BBS10 c.271_272insT/c.1407T>G p.Cys91fs*5/p.Tyr469* cLOF/cLOF 1 1 1 0 1 N. 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
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
Shaheen et al. 2016 QHSP F-16-23 BBS2 c.806T>G/c.806T>G p.Val269Gly/p.Val269Gly MS/MS 1 1 1 1 1 1 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
Janssen et al. 2011 ODT5 F1 (A2891) -4 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-18-25 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
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
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
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
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
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
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