Items: 801 - 825 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
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Notes
Esposito et al. 2017 3JWE P.4 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 70 1 1 Italian
Esposito et al. 2017 0HCQ P.5 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 Italian
Esposito et al. 2017 CCZB P.6 BBS1 c.1169T>G/c.1642delC p.Met390Arg/p.Leu548Trpfs*31 MS/cLOF 1 0 Italian
Esposito et al. 2017 QAAA P.8a BBS2 c.84delC/c.1059dupT p.Pro29Argfs*50/p.Asn354* cLOF/cLOF
[]
 1 1 1 Italian
Esposito et al. 2017 EY9N P.9 BBS2 c.225T>G/c.225T>G p.Val75Gly/p.Val75Gly MS/MS 1 1 Italian
Azari et al. 2006 H27Y P1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 16 0 1 1 1 1 USA
Hjortshoj et al. 2010 W986 P1 BBS2 p.Phe221fs*25/p.Phe221fs*25 cLOF/cLOF
[]
 F 0-9 6 1 1 1 0 0 Scandinavian
Innes et al. 2010 KVYU P1 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 10-19 19 1 1 1 0 1 1 1 Hutterite
Azari et al. 2006 IZFY P10# BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 48 0 1 1 USA
Hjortshoj et al. 2010 MIU3 P14 BBS10 p.Cys91Trpfs*5/p.Cys91Trpfs*5 cLOF/cLOF
[]
 F 0-9 8 1 1 1 1 1 Scandinavian
Hjortshoj et al. 2010 Y6V5 P16 BBS2 p.Phe221fs*25/p.Arg216* cLOF/cLOF
[]
 M 0-9 5 1 1 1 1 0 1 Scandinavian
Azari et al. 2006 PUF2 P2 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 10-19 16 1 1 1 USA
Innes et al. 2010 BF8A P2 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 0-9 0,5 1 1 1 Hutterite
Azari et al. 2006 R59Q P3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 0 1 1 1 USA
Innes et al. 2010 HFPV P3 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 0-9 6 1 1 1 Hutterite
Azari et al. 2006 6SEB P4 BBS1 p.Met390Arg/p.Leu518Pro MS/MS F 10-19 19 1 1 USA
Hjortshoj et al. 2010 VNHI P41 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS
[]
 M 0-9 7 1 1 1 1 1 1 1 Scandinavian
Hjortshoj et al. 2010 QC14 P42 BBS2 p.Arg216*/p.Tyr24* cLOF/cLOF
[]
 M 10-19 10 1 1 1 1 0 0 Scandinavian
Hjortshoj et al. 2010 58IU P47 BBS10 p.Cys91Trpfs*5/p.Gln623* cLOF/cLOF
[]
 M 0-9 9 1 1 1 0 1 0 Scandinavian
Azari et al. 2006 C18M P5 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 20 1 1 USA
Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
[]
 F 10-19 19 1 1 1 1 1 Scandinavian
Hjortshoj et al. 2010 XKZA P57 BBS2 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF
[]
 M 0-9 1 1 1 1 1 1 0 Scandinavian
Azari et al. 2006 YPW2 P6 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30 1 1 USA
Azari et al. 2006 GBVH P7¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40 0 1 USA
Azari et al. 2006 GBVH P8¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 1 USA