Items: 426 - 450 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
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Notes
Frank et al. 2007 NP9T 943 BBS13 c.1408-7_35del/c.417G>A p.Glu139Glu (splice)/p.Glu139Glu (splice) cLOF/cLOF 1 1 1 German
Frank et al. 2007 D3OF 951 BBS13 c.515+1G>A/c.515+1G>A splice/splice cLOF/cLOF 1 1 1 Kuwait
Gerth et al. 2008 QWKB 2293 BBS1 p.Met390Arg/p.Asn524del MS/MS M 20-39 21 1 1 0 0 1 Canada
Gerth et al. 2008 BBNF 2301 BBS1 p.Asp8Asp (splice)/p.Arg483* cLOF/cLOF F 10-19 16 1 1 1 1 1 1 Canada
Gerth et al. 2008 O76S 2512 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 29 1 1 0 0 0 0 Canada
Gerth et al. 2008 NSTJ 2597 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 21 1 1 1 1 0 0 Canada
Gerth et al. 2008 TM2Q 2213 BBS10 p.Cys91Trp/p.Val707*fs*1 MS/cLOF F 10-19 14 1 1 1 1 0 1 Canada
Gerth et al. 2008 IT83 2294 BBS10 p.Cys91fs*5/p.Arg103fs*8 cLOF/cLOF F 10-19 16 1 1 1 1 0 1 Canada
Gerth et al. 2008 OZTA 2296 BBS10 p.Cys91Trp/p.Ala474fs*10 MS/cLOF M 10-19 12 1 1 1 1 0 1 Canada
Gerth et al. 2008 OZTA 2621 BBS10 p.Cys91Trp/p.Ala474fs*10 MS/cLOF M 10-19 14 1 1 0 1 0 Canada
Ghadami et al. 2000 YCV0 III-10 BBS3 F 40+ 62 1 1 0 0 0 Iranian
Ghadami et al. 2000 YCV0 III-5 BBS3 M 1 0 1 0 Iranian
Ghadami et al. 2000 YCV0 III-9 BBS3 M 1 1 0 Iranian
Ghadami et al. 2000 YCV0 IV-10 BBS3 F 20-39 32 1 1 1 0 0 0 Iranian
Ghadami et al. 2000 YCV0 IV-11 BBS3 F 20-39 30 1 1 1 0 0 0 Iranian
Ghadami et al. 2000 YCV0 IV-14 BBS3 M 10-19 18 1 1 1 0 0 0 Iranian
Ghadami et al. 2000 YCV0 IV-9 BBS3 F 20-39 33 1 1 1 0 0 1 Iranian
González‐del Pozo et al. 2013 7KIL II:2 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS F 1 0 1 1 0 0 0 0 Spanish
González‐del Pozo et al. 2013 7KIL II:4 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS
[]
 M 1 1 1 1 0 1 0 0 Spanish
González‐del Pozo et al. 2013 7KIL II:5 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS M 1 1 1 1 0 0 0 0 Spanish
Harville et al. 2010 C4K2 A2014-II1 BBS1 c.IVS1-1G>A/c.IVS1-1G>A splice/splice cLOF/cLOF 0 1 1 1 1 Turkish
Harville et al. 2010 CCK1 A2876-II1(AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 0 0 0 1 0 1 Europe
Harville et al. 2010 CCK1 A2876-II2 (AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 1 0 1 Europe
Harville et al. 2010 2RC7 A2880-II1 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 0 1 1 Europe
Harville et al. 2010 2RC7 A2880-II2 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 0 Europe