Samples with Characterized Mutations
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| Records Return:
(8)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
| GM29739 | Fibroblast | | C>T | 2392 | CGG>TGG | 798 | Arg>Trp | c.2392C>T (p.Arg798Trp) |
| GM29742 | Fibroblast | | C>T | 2392 | CGG>TGG | 798 | Arg>Trp | c.2392C>T (p.Arg798Trp) |
| GM29743 | Fibroblast | | C>T | 2392 | CGG>TGG | 798 | Arg>Trp | c.2392C>T (p.Arg798Trp) |
| GM29745 | Fibroblast | | C>T | 2392 | CGG>TGG | 798 | Arg>Trp | c.2392C>T (p.Arg798Trp) |
| GM29746 | Fibroblast | | C>T | 2392 | CGG>TGG | 798 | Arg>Trp | c.2392C>T (p.Arg798Trp) |
| GM29749 | Fibroblast | | C>T | 2392 | CGG>TGG | 798 | Arg>Trp | c.2392C>T (p.Arg798Trp) |
| GM29750 | Fibroblast | | C>T | 2392 | CGG>TGG | 798 | Arg>Trp | c.2392C>T (p.Arg798Trp) |
| GM29751 | Fibroblast | | C>T | 2392 | CGG>TGG | 798 | Arg>Trp | c.2392C>T (p.Arg798Trp) |
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