Items: 301 - 325 from 899
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Source
Family
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
Braun et al. 2014 NA 16 BBS3 M 10-19 18 1 0 French
Braun et al. 2014 NA 1 BBS4 F 20-39 26 1 1 French
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
Braun et al. 2014 NA 14 BBS9 M 20-39 27 1 0 French
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 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 58IU P47 BBS10 p.Cys91Trpfs*5/p.Gln623* cLOF/cLOF
[]
 M 0-9 9 1 1 1 0 1 0 Scandinavian
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
Castro-Sanchez et al. 2015 SFDV B164 (463) BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 0 0 0 1 1 1 Spanish
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
Castro-Sanchez et al. 2015 0ZFK B260 (1476) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 46 1 0 1 0 1 0 0 1 Spanish
Hjortshoj et al. 2010 QC14 P42 BBS2 p.Arg216*/p.Tyr24* cLOF/cLOF
[]
 M 10-19 10 1 1 1 1 0 0 Scandinavian
Castro-Sanchez et al. 2015 LX4R GBB23 (2128)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 F 40+ 51 1 1 1 1 1 1 Spanish
Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
[]
 F 10-19 19 1 1 1 1 1 Scandinavian
Castro-Sanchez et al. 2015 LX4R GBB23 (2129)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 59 1 1 1 1 1 1 Spanish
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
Castro-Sanchez et al. 2015 M6S4 GBB27 (I)‡ BBS1 p.Met390Arg/p.His504fs*48 MS/cLOF M 10-19 17 1 1 0 1 0 0 0 Spanish
Castro-Sanchez et al. 2015 M6S4 GBB27 (II)‡ BBS1 p.Met390Arg/p.His504fs*48 MS/cLOF F 0-9 3 1 1 1 1 0 0 0 1 Spanish
Castro-Sanchez et al. 2015 3KOY GBB6 (110) BBS1 p.Met390Arg/p.Leu288Arg MS/MS M 20-39 38 1 1 1 0 0 Spanish
Castro-Sanchez et al. 2015 WZMT GBB7 (111)‡ BBS1 p.Met390Arg/p.Val366Asp MS/MS F 20-39 21 1 1 1 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 WZMT GBB7 (112)‡ BBS1 p.Met390Arg/p.Val366Asp MS/MS M 20-39 25 1 1 1 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 Y7RJ M129-(1518)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 64 1 1 0 1 1 0 1 0 Spanish
Castro-Sanchez et al. 2015 Y7RJ M129-(1519)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 61 1 1 0 1 1 0 Spanish
Castro-Sanchez et al. 2015 H8IH M499-(4993)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 73 1 1 0 0 Spanish