Items: 151 - 175 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
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Notes
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
Abu-Safieh et al. 2012 JMQS BBS-F030-A BBS5 c.158C>T/c.158C>T p.Thr53Ile/p.Thr53Ile MS/MS
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 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 J5Z0 53 BBS5 c.387-618del232/c.387-618del232 p.?/p.? F 20-39 28 1 1 1 1 1 0 1 Jordanian
Deveault et al. 2011 UAMN 50 BBS5 p.Gly72Ser/p.Gly72Ser MS/MS M 10-19 16 1 1 1 1! 1 0 1 1 Somalian
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Aldahmesh et al. 2014 TUBP BBS_DG5a BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 1 1 1 1 0 1 0 1 Saudi Arabian
Aldahmesh et al. 2014 TUBP BBS_DG5b BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 1 1 0 1 0 Saudi Arabian
Aldahmesh et al. 2014 TUBP BBS_DG5c BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 1 1 0 0 0 1 Saudi Arabian
Scheidecker et al. 2015 LOF5 Case1 BBS5 p.Met1Leu/p.Met1Leu MS/MS M 20-39 37 1 1 1 1 1 0 French
Aldahmesh et al. 2014 TUBP BBS_DG5d BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 0 1 0 1 0 1 Saudi Arabian
Al-Hamed et al. 2014 73V9 Affected female-1 BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 1 1 1 1 1 0 1 Saudi Arabian
Al-Hamed et al. 2014 73V9 Affected female-2 BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 0 1 1 1 1 1 1 Saudi Arabian
Al-Hamed et al. 2014 73V9 Affected male BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF M 0 1 1 1 1 0 1 1 Saudi Arabian
Maria et al. 2016 B9HM F02 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 45 1 0 0 1 1 1 Pakistani
Maria et al. 2016 B9HM F02 IV:I BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 47 1 0 1 1 1 1 1 Pakistani
Maria et al. 2016 MOAU F03 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF F 10-19 15 1 0 1 0 1 0 1 1 Pakistani
M'hamdi et al. 2013 U5TO BBS-F13-A BBS5 c.149T>G/c.149T>G p.Leu50Arg/p.Leu50Arg MS/MS
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 F 10-19 11 1 1 1 1 0 0 Tunisian
Harville et al. 2010 H5B5 A2002-II1 BBS5 c.2T>A/c.2T>A p.Met1Lys/p.Met1Lys cLOF/cLOF 1 1 1 1 0 Pakistani
Harville et al. 2010 E9UF A2027-II1 BBS5 c.2T>A/c.2T>A p.Met1Lys/p.Met1Lys cLOF/cLOF 1 0 1 1 0 Pakistani
Braun et al. 2014 NA 9 BBS5 M 20-39 24 1 0 French
Braun et al. 2014 NA 10 BBS5 M 20-39 39 1 0 French
Sathya Priya et al. 2015 KIOI BBS-E BBS5 c.471G>A/c.471G>A p.Arg138His/p.Arg138His MS/MS 1 1 1 0 0 0 Indian
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