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  RAPID updates on: 2010-04-27

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Sl.No Gene Symbol Mutation type Reference sequence Sequence features Sequence accession Genomic level change CDS level change RNA level change mRNA expressions Detection method Protein level change Protein expressions Detection method Mutation effects Sample size Nationality/Country of origin Race/Ethnicity Expt. Name PubMed Mutation viewer
1   THBD  Substitution   Genomic DNA, Coding DNA, Protein   Exon    NC_000020.9 NM_000361.2 NP_000352.1    g.287G>A   c.127G>A   -   -   -   p.Ala43Thr   Minimum   Flow cytometry, Western blotting   Missense defects   1   -   -   Direct sequencing   Delvaeye M et al., 2009 
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2   THBD  Substitution   Genomic DNA, Coding DNA, Protein   Exon    NC_000020.9 NM_000361.2 NP_000352.1    g.318A>G   c.158A>G   -   -   -   p.Asp53Gly   Minimum   Flow cytometry, Western blotting   Missense defects   1   -   -   Direct sequencing   Delvaeye M et al., 2009 
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3   THBD  Substitution   Genomic DNA, Coding DNA, Protein   Exon    NC_000020.9 NM_000361.2 NP_000352.1    g.401G>A   c.241G>A   -   -   -   p.Val81Ile   Minimum   Flow cytometry, Western blotting   Missense defects   1   Yemenite   -   Direct sequencing   Delvaeye M et al., 2009 
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4   THBD  Substitution   Genomic DNA, Coding DNA, Protein   Exon    NC_000020.9 NM_000361.2 NP_000352.1    g.1643C>T   c.1483C>T   -   -   -   p.Pro495Ser   Minimum   Flow cytometry, Western blotting   Missense defects   1   -   -   Direct sequencing   Delvaeye M et al., 2009 
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5   THBD  Substitution   Genomic DNA, Coding DNA, Protein   Exon    NC_000020.9 NM_000361.2 NP_000352.1    g.1662C>T   c.1502C>T   -   -   -   p.Pro501Leu   Minimum   Flow cytometry, Western blotting   Missense defects   1   -   -   Direct sequencing   Delvaeye M et al., 2009 
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6   THBD  Substitution   Genomic DNA, Coding DNA, Protein   Exon    NC_000020.9 NM_000361.2 NP_000352.1    g.1616G>T   c.1456G>T   -   -   -   p.Asp486Tyr   Minimum   Flow cytometry, Western blotting   Missense defects   1,1   American, Italian   -   Direct sequencing   Delvaeye M et al., 2009 
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