Items: 76 - 100 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
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REN
HRT
LIV
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Notes
Sathya Priya et al. 2015 ZPP2 BBS-G BBS1 c.1340-2A>G/c.1340-2A>G splice/splice cLOF/cLOF 1 1 1 0 0 0 Indian
Sathya Priya et al. 2015 HA2V BBS-M BBS1 c.1695G>A/c.1695G>A splice/splice cLOF/cLOF 1 1 1 0 0 0 Indian
Chaki et al. 2011 0Q4M A2182-21 BBS14 c.2217+1G>T/c.2217+1G>T splice/splice cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 0Q4M A2182-22 BBS14 c.2217+1G>T/c.2217+1G>T splice/splice cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 G914 F4-21 BBS14 c.2218-4_2222del9/c.2218-4_2222del9 splice/splice cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 G914 F4-22 BBS14 c.2218-4_2222del10/c.2218-4_2222del10 splice/splice cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 ITBC A2290-21 BBS16 c.1068+1G>A/c.1068+1G>A splice/splice cLOF/cLOF 1 1! 1 0 NA
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
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
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
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
Hjortshoj et al. 2009 H5EH FO-10 BBS1 c.1091+3G>C/ splice/p.Met390Arg cLOF/MS M 20-39 31 1 0 1 0 Faroe Islands
Deveault et al. 2011 FKM6 138 BBS10 c.197+1G>T/ splice/p.Leu600Ser cLOF/MS M 10-19 14 1 0 1 0 0 1 Mexican/Norwegian/Danish
Bujakowska et al. 2015 ARFT Family 1, II.1 BBS20 c.1525-1G>A/c.4701C>A splice/p.His1567Gln cLOF/MS 10-19 15 1 1 1 0 1 White European
Bujakowska et al. 2015 ARFT Family 1, II.2 BBS20 c.1525-1G>A/c.4701C>A splice/p.His1567Gln cLOF/MS 20-39 22 1 1 0 0 1 White European
Shin et al. 2015 50Z6 II:1 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 28 1 1 0 1 0 1 1 0 1 Korean
Shin et al. 2015 50Z6 II:2 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 26 1 1 0 1 0 1 1 0 1 Korean
Fattahi et al. 2014 Y3OD 38498 BBS2 c.256_278dup23/c.256_278dup23 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF 0 1 1 1 1 1 Iranian
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
Esposito et al. 2017 EY9N P.9 BBS2 c.225T>G/c.225T>G p.Val75Gly/p.Val75Gly MS/MS 1 1 Italian
Lindstrand et al. 2016 KOBZ AR883-04 BBS10 c.2119_2120delGT/c.2118_2119delTG p.Val707*/p.Val707fs* cLOF/cLOF
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 M 0-9 4 1 1 1 1 1 NA
Abu-Safieh et al. 2012 AUFJ BBS-F028-A BBS12 c.1993_1996del/c.1993_1996del p.Val665Leufs*14/p.Val665Leufs*14 cLOF/cLOF
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 1 1 1 0 1 0 0 Saudi Arabian
Deveault et al. 2011 0MN1 2 BBS12 p.Val400Met/p.Arg674Cys MS/MS
[]
 M 20-39 27 1 1 1 0 0 0 1 1 Egyptian
Deveault et al. 2011 0MN1 3 BBS12 p.Val400Met/p.Arg674Cys MS/MS
[]
 M 20-39 25 1 1 1 0 1 0 1 1 Egyptian
Billingsley et al. 2010 F7X3 2x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 24 1 0 1 0 0 0 1 1 Egyptian