Items: 301 - 325 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
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Notes
White et al. 2006 TGDP Patient B BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 10-19 13 1 1 0 1 1 0 0 1 Omani
White et al. 2006 TGDP Patient C BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 Omani
White et al. 2006 TGDP Patient D BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF F 0-9 6 1 1 1 1 1 0 0 1 Omani
Castro-Sanchez et al. 2015 CK6O RP1032 (32)¶ BBS10 p.Gln284*/p.Gln284* cLOF/cLOF F 10-19 15 1 1 1 Spanish
Deveault et al. 2011 XBKC 124 BBS12 p.Gln293Glu/p.Phe372*fs*1 MS/cLOF F 40+ 64 1 1 1 0 1 1 0 Caucasian
Janssen et al. 2011 BYVF AR14 (A2824) -4 BBS7 c.878A>C/c.878A>C p.Gln293Pro/p.Gln293Pro MS/MS 1 1 1 1 1 1 N. European
Janssen et al. 2011 BYVF AR14 (A2824)-8 BBS7 c.878A>C/c.878A>C p.Gln293Pro/p.Gln293Pro MS/MS 1 1 1 1 1 1 N. European
Fattahi et al. 2014 VO8X 34754 BBS2 c.1003C>T/c.1003C>T p.Gln335*/p.Gln335* cLOF/cLOF 1 1 1 1 1 Iranian
Ece Solmaz et al. 2015 9PAP 5 BBS1 c.1012C>T/c.1012C>T p.Gln338*/p.Gln338* cLOF/cLOF 20-39 20 1 1 1 1 1 1 0 1 1 Turkish
Shaheen et al. 2016 RPFV F-130 196 BBS13 c.1066C>T/c.1066C>T p.Gln356*/p.Gln356* cLOF/cLOF 1 1 Saudi Arabian
Khan et al. 2013 ITYJ B IV-2 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF F 20-39 37 1 1 0 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-3 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 26 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-4 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 20 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-5 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 18 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-6 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 13 1 1 1 1 0 0 Pakistani
Shaheen et al. 2016 GWM7 F-11-16 BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 GWM7 F-11-17 BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 A60R BBS-F031-A BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF
[]
 1 1 1 1 0 0 0 0 Saudi Arabian
Sathya Priya et al. 2015 G5CL BBS-V BBS9 c.1195C>T/c.1195C>T p.Gln399*/p.Gln399* cLOF/cLOF 1 1 1 0 1 1 Indian
Sathya Priya et al. 2015 SREX BBS-F1 BBS10 c.1227delA/c.1227delA p.Gln409Hisfsˆ*22/p.Gln409Hisfsˆ*22 cLOF/cLOF 1 1 1 1 0 Indian
Fattahi et al. 2014 O03G 40302 BBS7 c.1342_1346delCAGGC/c.1443T>A p.Gln448Argfs*13/p.Cys481* cLOF/cLOF 1 1 1 0 1 1 1 Iranian
Ullah et al. 2017 D8UI C IV-1 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 13 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 D8UI C IV-2 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 12 1 1 1 1 1 Pakistani
Ullah et al. 2017 D8UI C IV-6 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS F 10-19 10 1 1 1 1 0 Pakistani
Shaheen et al. 2016 D0IN F-77-139 BBS4 c.172C>T/c.172C>T p.Gln58*/p.Gln58* cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian