Items: 301 - 325 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
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Age
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PD
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Notes
Abu Safieh et al. 2010 W01J KFSH-FD001-3 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 27 1 0 0 0 0 0 0 0 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-4 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS M 20-39 22 1 0 0 0 0 0 0 0 Saudi Arabian
Ece Solmaz et al. 2015 2ZHF 8 BBS2 c.263delG/c.263delG p.Gly88Alafs*6/p.Gly88Alafs*6 cLOF/cLOF 10-19 13 1 1 1 1 1 1 0 1 1 Turkish
Ece Solmaz et al. 2015 VITC 10 BBS2 c.263delG/c.263delG p.Gly88Alafs*6/p.Gly88Alafs*6 cLOF/cLOF 0-9 8 1 1 1 1 1 1 1 0 1 Turkish
Shaheen et al. 2016 NI0T F-19-27 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 NI0T F-19-28 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
Fattahi et al. 2014 V7JY 41931 BBS9 c.263+1G>A/c.263+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 Iranian
Frank et al. 2007 0ZHU 850 BBS13 c.262-37_179del/c.262-37_179del splice/splice cLOF/cLOF
[]
 1 1 1 Turkish
Schaefer et al. 2013 9V5G II:2 BBS17 c.260T>C/c.778G>T p.Leu87Pro/p.Glu260* MS/cLOF F 20-39 36 1 1 1 1 1 French
Schaefer et al. 2013 9V5G II:3 BBS17 c.260T>C/c.778G>T p.Leu87Pro/p.Glu260* MS/cLOF F 20-39 36 1 1 1 1 1 French
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
Janssen et al. 2011 RGZ9 AR847 (A2877) -3 BBS9 c.2390_2393delAACA/c.2521_2522insAG p.Lys628fs*22/p.Ala672fs*219 cLOF/cLOF 1 1 0 1 1 N. European
Janssen et al. 2011 RGZ9 AR847 (A2877)-4 BBS9 c.2390_2393delAACA/c.2521_2522insAG p.Lys628fs*22/p.Ala672fs*219 cLOF/cLOF 1 1 1 0 1 1 N. European
Yoon et al. 2014 J447 brother BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 0-9 6,5 1 1 0 1 1 Korean
Yoon et al. 2014 J447 case BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 10-19 17,5 1 1 1 1 1 0 Korean
Esposito et al. 2017 Q6AP P.13 BBS10 c.235dupA/c.271dupT p.Thr79Asnfs*17/p.Cys91Leufs*5 cLOF/cLOF 1 1 Italian
Esposito et al. 2017 EY9N P.9 BBS2 c.225T>G/c.225T>G p.Val75Gly/p.Val75Gly MS/MS 1 1 Italian
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
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
Sathya Priya et al. 2015 YFO2 BBS-Z BBS12 c.223delC/c.223delC p.Gln75Leufs*37/p.Gln75Leufs*37 cLOF/cLOF 1 1 1 1 0 1 1 Indian
Shaheen et al. 2016 H4LK F-10-15 BBS9 c.223C>T/c.1789+1G>A p.Arg75*/splice cLOF/cLOF 1 1 1 1 Saudi Arabian
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 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