Items: 26 - 50 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
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Notes
Shaheen et al. 2016 3MZE F-2-3 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
Kamme et al. 2016 L4YK II-2 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS F 20-39 28 1 1 0 1 Swedish
Katsanis et al. 2000 0DJ3 AR237 1 BBS6 p.Tyr37Cys/p.Tyr37Cys MS/MS 1 1 1 European/American
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Shaheen et al. 2016 QT17 F-25-42 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 063P F-50-92 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 CNZJ F-73-134 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 CNZJ F-73-135 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 307E F-75-137 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 ZE22 F-8-13 BBS5 c.1A>T/c.1A>T start codon defect/start codon defect cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 D9R5 F-28-48 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 3TCL F-29-51 BBS6 c.830T>C/c.830T>C p.Leu277Pro/p.Leu277Pro MS/MS 1 1 1 1 Saudi Arabian
Deveault et al. 2011 GZYP 126 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
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 F 0-9 4 1 1 1 1 Denea
Katsanis et al. 2001 ZH2A AR241\ BBS2 p.Arg315Gln/p.Arg315Gln MS/MS
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 1 1 1 1 0 European/American
Shaheen et al. 2016 3TCL F-29-52 BBS6 c.830T>C/c.830T>C p.Leu277Pro/p.Leu277Pro MS/MS 1 1 1 1 Saudi Arabian
Deveault et al. 2011 GZYP 128 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 10 0 0 1 1 1 Denea
Shaheen et al. 2016 3TCL F-29-53 BBS6 c.830T>C/c.830T>C p.Leu277Pro/p.Leu277Pro MS/MS 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-68 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 Saudi Arabian
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
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
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
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
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
Shaheen et al. 2016 F39D F-76-138 BBS9 c.2115+1G>A/c.2115+1G>A p.?/p.? ?/? 1 1 1 Saudi Arabian