Items: 701 - 725 from 899
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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Shaheen et al. 2016 3MZE F-2-2 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
Kamme et al. 2016 L4YK II-1 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS M 10-19 12 1 1 0 Swedish
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
Deveault et al. 2011 32AO 80 BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS
[]
 F 10-19 15 1 1 1 0 0 British
Shaheen et al. 2016 5UL5 F-32-56 BBS5 c.955_957del/c.955_957del p.Glu319del/p.Glu319del MS/MS 1 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
Abu-Safieh et al. 2012 Y63A BBS-F032-A BBS13 Exon1loss/ loss of exon 1/loss of exon 1 cLOF/cLOF 1 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
Katsanis et al. 2001 QDX9 AR029² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 European/American
Shaheen et al. 2016 D9R5 F-28-50 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 Saudi Arabian
Katsanis et al. 2001 4RJW AR171² BBS2 p.Asp104Ala/p.Arg634Pro MS/MS 1 1 1 0 0 European/American
Deveault et al. 2011 GZYP 126 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
[]
 F 0-9 4 1 1 1 1 Denea
Katsanis et al. 2001 ZH2A AR241\ BBS2 p.Arg315Gln/p.Arg315Gln MS/MS
[]
 1 1 1 1 0 European/American
Katsanis et al. 2001 VLFH AR259§\ BBS2 p.Tyr24*/p.Gln59* cLOF/cLOF
[]
 1 1 1 1 0 European/American
Deveault et al. 2011 NF8Q 24 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 0-9 6 1 1 1 1 1 1 1 Pakistani
Katsanis et al. 2001 8ZLD AR579§ BBS2 p.Leu168fs*3/p.Arg216* cLOF/cLOF
[]
 1 1 1 1 1 1 European/American
Shaheen et al. 2016 ZN58 F-42-67 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Katsanis et al. 2001 IV3A K059² BBS2 p.Arg315Trp/p.Arg315Trp MS/MS
[]
 1 1 1 1 1 1 NA
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
Katsanis et al. 2001 NITU NFB14§ BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF
[]
 1 1 1 1 1 1 Newfoundland
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
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
Katsanis et al. 2001 Z6T8 PB020² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 European/American