Items: 601 - 625 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
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Age
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PD
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Notes
Shaheen et al. 2016 OPSI F-179 254 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Davies et al. 2018 C4MF BBS001 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 30-39 1 1 0 1 0 0 0 White European
Janssen et al. 2011 OTUQ A3185 0 BBS10 c.687delA/c.271_272insT p.Pro229fs*8/p.Cys91fs*5 cLOF/cLOF 1 1 1 1 1 USA
Shaheen et al. 2016 INH9 F-192 275 BBS14 c.4811G>A/c.4811G>A p.Trp1604*/p.Trp1604* cLOF/cLOF 1 0 1 Saudi Arabian
Davies et al. 2018 PAQG BBS002 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 60+ 1 1 1 1 0 0 0 White European
Janssen et al. 2011 N3GL AR151 (A2834) -4 BBS10 c.271_272insT/c.1676_1677insA p.Cys91fs*5/p.Tyr559fs*1 cLOF/cLOF 1 1 1 1 0 1 N. European
Shaheen et al. 2016 M87Y F-198 281 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Davies et al. 2018 65XJ BBS003 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Janssen et al. 2011 HSBG AR232 (A2839)-4 BBS10 c.271_272insT/c.1677delC p.Cys91fs*5/p.Tyr559fs*1 cLOF/cLOF 1 1 1 1 0 N. European
Davies et al. 2018 GVB4 BBS004 BBS1 p.Met390Arg/splice MS/cLOF M 20-39 20-29 1 1 0 1 0 0 0 White European
Janssen et al. 2011 M170 AR371 (A2850) -3 BBS10 c.271_272insT/c.899A>C p.Cys91fs*5/p.His300Pro cLOF/MS 1 1 1 1 N. European
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
Janssen et al. 2011 18IG AR515 (A2857) -3 BBS10 c.271_272insT/c.1250C>T p.Cys91fs*5/p.Ala417Val cLOF/MS 1 1 1 1 0 N. European
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
Davies et al. 2018 PHRO BBS006 BBS1 p.Met390Arg/p.Gly73* MS/cLOF M 40+ 40-49 1 1 1 1 1 0 0 White European
Janssen et al. 2011 8Y4G AR707 (A2864) -8 BBS10 c.271_272insT/c.1407T>G p.Cys91fs*5/p.Tyr469* cLOF/cLOF 1 1 1 1 1 1 N. European
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
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
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
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
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
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
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