Items: 876 - 899 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
Iurian et al. 2015 X6V2 C.V.N BBS12 c.1063C>T/c.1063C>T p.Arg355*/p.Arg355* cLOF/cLOF M 0-9 5 month 0 1 1 1 1 1 Romanian
Castro-Sanchez et al. 2015 POGM M79 (1608)§ BBS6 p.Gly250Arg/p.Gly250Arg MS/MS F 20-39 36 1 1 1 1 1 1 0 Spanish
Castro-Sanchez et al. 2017 LDBP Case 2 BBS2 c.565C>T/c.565C>T p.Arg189*/p.Arg189* cLOF/cLOF F 10-19 14 1 1 1 1 1 0 1 Spanish
Janssen et al. 2011 YNNI AR603 (A2858) -3 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 1 1 0 1 N. European
Castro-Sanchez et al. 2017 UY2P Case 3 BBS2 c.1932T>A/c.1932T>A p.Tyr644*/p.Tyr644* cLOF/cLOF M 0-9 6 1 1 1 0 0 Spanish
Janssen et al. 2011 YNNI AR603 (A2858)-5 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 1 N. European
Cox et al. 2012 AZ4J PT1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 27 1 1 1 1 0 1 USA
Cox et al. 2012 D2VE PT2 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 1 1 0 0 0 USA
Janssen et al. 2011 JOFV AR61 (A2826)-5 BBS1 c.223_224delCT/c.616T>G p.Leu75fs*23/p.Leu206Val MS/cLOF 1 1 1 1 0 0 N. European
Cox et al. 2012 PZDS PT3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 0 0 0 USA
Janssen et al. 2011 X0N3 PB206 (A2024) 0 BBS1 c.IVS5-1G>C/c.IVS5-1G>C splice/splice cLOF/cLOF 1 1 1 1 1 1 Turkish
Janssen et al. 2011 OTUQ A3185 0 BBS10 c.687delA/c.271_272insT p.Pro229fs*8/p.Cys91fs*5 cLOF/cLOF 1 1 1 1 1 USA
Davies et al. 2018 PAQG BBS002 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 60+ 1 1 1 1 0 0 0 White European
Janssen et al. 2011 N3GL AR151 (A2834) -4 BBS10 c.271_272insT/c.1676_1677insA p.Cys91fs*5/p.Tyr559fs*1 cLOF/cLOF 1 1 1 1 0 1 N. European
Davies et al. 2018 65XJ BBS003 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Janssen et al. 2011 HSBG AR232 (A2839)-4 BBS10 c.271_272insT/c.1677delC p.Cys91fs*5/p.Tyr559fs*1 cLOF/cLOF 1 1 1 1 0 N. European
Shaheen et al. 2016 XJQC F-27-46 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Janssen et al. 2011 M170 AR371 (A2850) -3 BBS10 c.271_272insT/c.899A>C p.Cys91fs*5/p.His300Pro cLOF/MS 1 1 1 1 N. European
Shaheen et al. 2016 XJQC F-27-47 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Davies et al. 2018 RJCD BBS005 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 60+ 1 1 1 0 0 1 0 White European
Janssen et al. 2011 18IG AR515 (A2857) -3 BBS10 c.271_272insT/c.1250C>T p.Cys91fs*5/p.Ala417Val cLOF/MS 1 1 1 1 0 N. European
Shaheen et al. 2016 FIFS F-1-1 BBS2 c.700C>T/c.700C>T p.Arg234*/p.Arg234* cLOF/cLOF 1 1 1 1 Saudi Arabian
Davies et al. 2018 PHRO BBS006 BBS1 p.Met390Arg/p.Gly73* MS/cLOF M 40+ 40-49 1 1 1 1 1 0 0 White European
Janssen et al. 2011 8Y4G AR707 (A2864) -8 BBS10 c.271_272insT/c.1407T>G p.Cys91fs*5/p.Tyr469* cLOF/cLOF 1 1 1 1 1 1 N. European