Items: 251 - 275 from 899
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Nucl. change
Protein change
TOM
Add. mut.
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Notes
Abu-Safieh et al. 2012 L4G5 BBS-F004-D BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 XBKC 124 BBS12 p.Gln293Glu/p.Phe372*fs*1 MS/cLOF F 40+ 64 1 1 1 0 1 1 0 Caucasian
Shaheen et al. 2016 ZN58 F-42-69 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-E BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Katsanis et al. 2001 9JDZ PB005² BBS2 p.Arg275*/p.Arg275* cLOF/cLOF 1 1 1 1 1 European/American
Shaheen et al. 2016 ZN58 F-42-70 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Deveault et al. 2011 RRKI 127 BBS12 p.Ser578*/p.Ser578* cLOF/cLOF F 10-19 11 1 1 1 1 1 1 1 1 El-Salvadorian
Katsanis et al. 2001 Z6T8 PB020² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 European/American
Shaheen et al. 2016 ZN58 F-42-71 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 W27X BBS-F018-B BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 0 0 0 0 Saudi Arabian
Shaheen et al. 2016 WOAU F-6-8 BBS6 c.295T>C/c.295T>C p.Cys99Arg/p.Cys99Arg MS/MS 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 W27X BBS-F018-C BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 0 0 0 0 Saudi Arabian
Shaheen et al. 2016 WOAU F-6-9 BBS6 c.295T>C/c.295T>C p.Cys99Arg/p.Cys99Arg MS/MS 1 1 1 1 1 1 1 Saudi Arabian
Katsanis et al. 2001 H5L1 PB058² BBS2 p.Cys210fs*37/p.Cys210fs*37 cLOF/cLOF 1 1 1 1 1 European/American
Shaheen et al. 2016 H4LK F-10-15 BBS9 c.223C>T/c.1789+1G>A p.Arg75*/splice cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 NI0T F-19-27 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
Deveault et al. 2011 65LF 69 BBS2 p.Arg622*/p.Ala136Pro cLOF/MS F 0-9 7 1 1 1 1 1 1 South African Black/European/Asian
Shaheen et al. 2016 NI0T F-19-28 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 7ZKJ F-30-54 BBS9 c.956delC/c.956delC p.Thr319Asnfs*2/p.Thr319Asnfs*2 cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 Q9A6 BBS-F005-A BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 1 0 1 0 Saudi Arabian
Deveault et al. 2011 14M0 77 BBS2 p.Gly81Cys/p.Cys307Trp MS/MS M 20-39 31 1 1 1 1 1 0 1 Caucasian
Kerr et al. 2015 1GW6 3a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF F 20-39 32 1 1 1 0 0 0 1 English/Irish/Scotish
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Shaheen et al. 2016 F39D F-76-138 BBS9 c.2115+1G>A/c.2115+1G>A p.?/p.? ?/? 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 Q9A6 BBS-F005-B BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 14M0 78 BBS2 p.Gly81Cys/p.Cys307Trp MS/MS M 20-39 29 1 1 1 1 1 0 1 1 Caucasian