Items: 201 - 225 from 899
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Protein change
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Add. mut.
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Notes
Esposito et al. 2017 Q6AP P.13 BBS10 c.235dupA/c.271dupT p.Thr79Asnfs*17/p.Cys91Leufs*5 cLOF/cLOF 1 1 Italian
Suzuki et al. 2016 1YH2 2.I BBS14 c.5788A>T/c.5788A>T p.Lys1930*/p.Lys1930* cLOF/cLOF 1 0 1 1 0 1 Japanese
Esposito et al. 2017 ZUWC P.15 BBS10 c.641T>A/c.641T>A p.Val214Glu/p.Val214Glu MS/MS 1 1 Italian
Suzuki et al. 2016 1YH2 2.II BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 0 0 1 1 0 1 Japanese
Esposito et al. 2017 QAAA P.8a BBS2 c.84delC/c.1059dupT p.Pro29Argfs*50/p.Asn354* cLOF/cLOF
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 1 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
Estrada-Cuzcano et al. 2012 (a) EOHE 1/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 0 0 0 Netherland
Estrada-Cuzcano et al. 2012 (a) 53FP 10/Fc BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 0 0 0 0 0 French
Estrada-Cuzcano et al. 2012 (a) ONMF 11/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 1 0 0 Italian
Estrada-Cuzcano et al. 2012 (a) 9FZ4 12/F BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 1 0 0 0 0 French
Lim et al. 2014 NA 1 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Estrada-Cuzcano et al. 2012 (a) HQVO 13/F BBS1 p.Met390Arg/p.Arg268Pro MS/MS F 1 1 1 0 0 0 0 0 Netherland
Lim et al. 2014 NA 2 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Estrada-Cuzcano et al. 2012 (a) 5JXT 14/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 1 0 0 1 0 German
Lim et al. 2014 NA 3 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Estrada-Cuzcano et al. 2012 (a) Q71J 2/M BBS1 p.Met390Arg/p.Leu388Pro MS/MS M 1 0 0 0 0 0 0 0 French
Lindstrand et al. 2014 O9YO DM012-003 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF
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 1 1 1 0 0 1 N. European
Estrada-Cuzcano et al. 2012 (a) 3VCU 3/Fa BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 0 0 0 0 0 0 0 Italian
Lindstrand et al. 2014 XFT0 RC1-03 BBS10 c.926T>C/c.9_14delTTCTAT p.Leu309Pro/p.Ser3_Met5delinsArg MS/MS
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 1 1 1 1 0 1 Latino
Estrada-Cuzcano et al. 2012 (a) XZ97 4/M BBS1 p.Met390Arg/p.Cys377Trpfs*36 MS/cLOF M 1 0 0 0 0 1 0 0 Netherland
Lindstrand et al. 2014 2JO8 44/4 BBS7 c.87_88delCA/c.87_88delCA p.His29Glnfs*12/p.His29Glnfs*12 cLOF/cLOF
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 1 1 1 0 1 Israel
Estrada-Cuzcano et al. 2012 (a) AR9W 5/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 0 0 0 0 0 Canadian
Estrada-Cuzcano et al. 2012 (a) 1NLX 6/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 0 0 0 0 0 French
Estrada-Cuzcano et al. 2012 (a) 1NLX 7/W BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 0 0 0 0 0 Italian
Estrada-Cuzcano et al. 2012 (a) 4YDB 8/Mb BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 0 0 0 Belgian
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