Samples with Characterized Mutations
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| Records Return:
(5)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
| GM17910 | Fibroblast | | G>T | 278 | C>F | 93 | C93F | CYS93PHE |
| GM18424 | Fibroblast | | G>A | 88 | V>M | 30 | V30M | VAL30MET |
| GM18429 | Fibroblast | 1 | T>C | IVS1+2 | | | | IVS1+2T>C |
| GM18455 | Fibroblast | | G>T | 58 | E>X | 20 | E20X | GLU20TER |
| GM18455 | Fibroblast | | G>T | 140 | C>F | 47 | C47F | CYS47PHE |
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