Samples with Characterized Mutations
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Records Return:
(17)
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Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
GM04488 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM05870 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM05872 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM06125 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM07523 | B-Lymphocyte | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM07842 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM07844 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM08684 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM08684 | Fibroblast | | G>A | 347 | C>Y | 116 | C116Y | CYS116TYR |
GM08768 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM11319 | B-Lymphocyte | | G>C | 166 | A>P | 56 | A56P | ALA56PRO |
GM13275 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM21192 | B-Lymphocyte | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM23495 | B-Lymphocyte | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM23496 | Fibroblast | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM23919 | B-Lymphocyte | | A>G | 985 | K>E | 304 | K304E | LYS304GLU |
GM25184 | B-Lymphocyte | | | | Lys>Glu | 329 | | LYS329GLU (K329E) |
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