Items: 626 - 650 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
Iannaccone et al. 2005 M1KN pat2 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF F 20-39 22 1 1 1 1 0 1 Italian
Shaheen et al. 2016 6TP3 F-22-36 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 0 1 Saudi Arabian
Castro-Sanchez et al. 2015 9VM7 M250-(127)‡ BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF M 40+ 53 1 1 1 0 1 0 0 Spanish
Iannaccone et al. 2005 M1KN pat3 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF M 20-39 27 1 1 0 0 1 1 0 Italian
Castro-Sanchez et al. 2015 9VM7 M250-(130)‡ BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF M 40+ 46 1 1 1 1 1 1 1 Spanish
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
Castro-Sanchez et al. 2015 T2D0 M333-(826) BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF F 20-39 37 1 1 0 1 1 0 0 Spanish
Castro-Sanchez et al. 2015 U7OU RP1011 (1184)§ BBS12 p.Gly540Asp/p.Gly540Asp MS/MS F 40+ 40 1 1 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 JJXV B17 (132)§ BBS6 p.Leu454Pro/p.Leu454Pro MS/MS F 40+ 43 1 1 1 1 0 1 1 Spanish
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
Janssen et al. 2011 K1J5 AR122 (A2831)d -4 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 0 1 1 1 N. European
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
Janssen et al. 2011 JOFV AR61 (A2826) -4 BBS1 c.223_224delCT/c.1169T>G p.Leu75fs*23/p.Met390Arg cLOF/MS 1 1 0 1 0 0 N. European
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
Davies et al. 2018 C4MF BBS001 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 30-39 1 1 0 1 0 0 0 White European
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