Items: 151 - 175 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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Notes
Kerr et al. 2015 G3C7 8b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 13 1 1 1 1 1 1! 0 1 French/Canadian
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Abu-Safieh et al. 2012 ZLPD BBS-F019-B BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
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 1 1 1 1 1 1 0 Saudi Arabian
Kerr et al. 2015 G3C7 9b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 0 0 1 French/Canadian
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Abu-Safieh et al. 2012 HF1E BBS-F022-A BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 0 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 INBL BBS-F012-A BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 INBL BBS-F012-B BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 INBL BBS-F012-C BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 Z3OQ BBS-F015-A BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 0 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 Z3OQ BBS-F015-B BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 Z3OQ BBS-F015-C BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 0 0 0 0 0 0 Saudi Arabian
Kerr et al. 2015 8WRO 15d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF M 10-19 16 1 1 1 1 0 0 1 0 1 Iraqi
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Deveault et al. 2011 DSU0 72 BBS6 p.Pro299Leu/p.Pro299Leu MS/MS F 10-19 13 1 1 1 0 1 1 0 1 French/Canadian
Kerr et al. 2015 RYP1 17 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS F 0-9 7 1 1 1 0 1! 1 0 Arabica
Ajmal et al. 2013 8PK6 Family A IV:4 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF F 1 1 1 1 0 0 0 0 1 Pakistani
Deveault et al. 2011 IXHU 4 BBS7 /IVS6+2T>C p.Gly63Arg/splice MS/cLOF
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 F 40+ 40 1 1 1 1 0 0 0 1 Italian
Ajmal et al. 2013 8PK6 Family A IV:5 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF M 1 1 0 1 0 0 0 0 1 Pakistani
Ajmal et al. 2013 V4HF Family B IV:3 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS M 1 1 1 1 0 0 0 1 Pakistani
Ajmal et al. 2013 V4HF Family B IV:5 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS F 1 1 1 1 0 0 1 0 0 Pakistani
Alazami et al. 2012 UKL9 JS_F11 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF F 1 0 1 0 0 1 Saudi Arabian
Alazami et al. 2012 FLZL JS_F12 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF F 1 1 1 0 1 Saudi Arabian
Ece Solmaz et al. 2015 6FB1 2 BBS1 c.48-3C>G/c.48-3C>G splice/splice cLOF/cLOF 0-9 2,5 0 0 1 1 1 1 0 0 1 Turkish
Schaefer et al. 2016 JSX2 IV.3 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 18 1 1 0 1 0 0 1 Melanesian
Alazami et al. 2012 QH09 JS_F3 BBS14 c.4714G>T/c.4714G>T p.Glu1572*/p.Glu1572* cLOF/cLOF F 0 1 1 0 1 Saudi Arabian
Schaefer et al. 2016 JSX2 IV.5 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 13 1 1 1 1 0 0 1 Melanesian
Aldahmesh et al. 2014 MZKJ BBS_DG4a BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF M 1 1 1 1 1 0 0 Saudi Arabian
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