Items: 376 - 400 from 899
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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Katsanis et al. 2001 4RJW AR171² BBS2 p.Asp104Ala/p.Arg634Pro MS/MS 1 1 1 0 0 European/American
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
[]
 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
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
Katsanis et al. 2001 VLFH AR259§\ BBS2 p.Tyr24*/p.Gln59* cLOF/cLOF
[]
 1 1 1 1 0 European/American
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
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
Deveault et al. 2011 NF8Q 56 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 10-19 15 1 1 1 0 1 Pakistani
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
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
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
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
Katsanis et al. 2001 XLCX PB026² BBS2 p.Asp170fs*2/p.Asp170fs*2 cLOF/cLOF
[]
 1 1 1 1 1 European/American
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
Katsanis et al. 2001 WIEN PB043\ BBS2 p.Thr560Ile/p.Thr560Ile MS/MS
[]
 0 1 1 0 1 European/American
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