Items: 1 - 25 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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REN
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Notes
Deveault et al. 2011 V65S 28 BBS10 p.Cys91Leufs*5/p.Val230Phefs*7 cLOF/cLOF F 20-39 24 1 1 1 1 0 1! 1 1 Polish
Deveault et al. 2011 QGOK 10 BBS10 p.Cys91Trp/p.Val707*fs*1 MS/cLOF
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 F 10-19 17 1 1 1 1! 1! 1 1 English/Irish
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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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
Davies et al. 2018 VQKL BBS007 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Janssen et al. 2011 8Y4G AR707 (A2864)-9 BBS10 c.271_272insT/c.1407T>G p.Cys91fs*5/p.Tyr469* cLOF/cLOF 1 1 1 0 1 N. European
Janssen et al. 2011 ODT5 F1 (A2891) -4 BBS10 c.271_272insT/c.391delC p.Cys91fs*5/p.Gln131fs*4 cLOF/cLOF 1 1 1 1 1 1 N. European
Janssen et al. 2011 ODT5 F1 (A2891)-5 BBS10 c.271_272insT/c.391delC p.Cys91fs*5/p.Gln131fs*4 cLOF/cLOF 1 1 1 1 1 1 N. European
Janssen et al. 2011 RZU9 F523 0 BBS10 c.539G>A/c.539G>A p.Gly180Glu/p.Gly180Glu MS/MS 1 N. European
Abu-Safieh et al. 2012 SZVM BBS-F001-A BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF
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 1 1 1 1 1 1 1 0 Saudi Arabian
Janssen et al. 2011 HWI6 AR248 (A2843) -5 BBS12 c.998G>A/c.998G>A p.Gly333Glu/p.Gly333Glu MS/MS 1 1 1 1 1 N. European
Abu-Safieh et al. 2012 SZVM BBS-F001-B BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 1 1 1 1 1 0 Saudi Arabian
Janssen et al. 2011 DRZF A1155 0 BBS2 c.947G>A/c.947G>A p.Gly316Asp/p.Gly316Asp MS/MS 0 1 0 1 1 N. European
Davies et al. 2018 X08Z BBS014 BBS1 p.Met390Arg/p.Gly73* MS/cLOF F 20-39 30-39 1 1 1 1 1 1 0 White European
Janssen et al. 2011 WUGA A1885 0 BBS2 c.823C>T/c.1895G>C p.Arg275*/p.Arg632Pro cLOF/MS 1 0 0 1 0 USA
Janssen et al. 2011 VL78 A2296 0 BBS2 c.823C>T/c.823C>T p.Arg275*/p.Arg275* cLOF/cLOF 0 1 1 1 USA
Janssen et al. 2011 NZSY A3436 0 BBS2 c.940delA/c.IVS6+2 p.Ile314fs*11/splice cLOF/cLOF 0 1 1 1 Turkey
Deveault et al. 2011 F2VY 47 BBS1 p.Ile296Thrfs*7/p.Ile296Thrfs*7 cLOF/cLOF
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 F 0-9 9 1 1 1 0 1 1 1 Pakistani
Janssen et al. 2011 F9UG AR124 (A2832) -3 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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Janssen et al. 2011 F9UG AR124 (A2832)-4 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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Janssen et al. 2011 WN8I AR724 (A2866) -5 BBS2 c.175C>T/c.72C>G p.Gln59*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 N. European
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Deveault et al. 2011 ZR8V 19 BBS1 p.Met390Arg/p.Asn524del MS/MS
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 M 20-39 24 1 1 0 0 1 1 1 English
Janssen et al. 2011 RRH7 AR850 (A2878) -3 BBS2 c.72C>G/c.504delG p.Tyr24*/p.Leu168fs*33 cLOF/cLOF 1 1 1 1 1 1 N. European
Janssen et al. 2011 RRH7 AR850 (A2878) -4 BBS2 c.72C>G/c.504delG p.Tyr24*/p.Leu168fs*33 cLOF/cLOF
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 1 1 1 1 1 N. European
Shaheen et al. 2016 NVC9 F-5-6 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 1 1 1 Saudi Arabian