Samples with Characterized Mutations
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| Records Return:
(11)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00059 | Fibroblast | | C>A | 527 | G>D | 176 | G176D | GLY176ASP |
| GM00059 | Fibroblast | | C>A | 693 | Y>X | 231 | Y231X | TYR231TER |
| GM00059 | Fibroblast | | C>A | 914 | A>E | 305 | A305E | ALA305GLU |
| GM00060 | Fibroblast | | C>A | 527 | G>D | 176 | G176D | GLY176ASP |
| GM00060 | Fibroblast | | C>A | 914 | A>E | 305 | A305E | ALA305GLU |
| GM04268 | Fibroblast | | A>C | 854 | E>A | 285 | E285A | GLU285ALA |
| GM17821 | B-Lymphocyte | | A>C | 854 | E>A | 285 | E285A | GLU285ALA |
| GM18929 | B-Lymphocyte | | C>A | 693 | Y>X | 231 | Y231X | TYR231TER |
| GM28249 | Stem cell | | C>A | 527 | G>D | 176 | G176D | GLY176ASP |
| GM28249 | Stem cell | | C>A | 693 | Y>X | 231 | Y231X | TYR231TER |
| GM28249 | Stem cell | | C>A | 914 | A>E | 305 | A305E | ALA305GLU |
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