Samples with Characterized Mutations
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| Records Return:
(4)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
| GM00483 | Fibroblast | | G>A | 2000 | C>Y | 646 | C646Y | CYS646TYR |
| GM01448 | B-Lymphocyte | | delGGT | 652 | G197del | 197 | G197del | GLY197DEL |
| GM01460 | B-Lymphocyte | | G>A | 2000 | C>Y | 646 | C646Y | CYS646TYR |
| GM03040 | Fibroblast | | delGGT | 652 | G197del | 197 | G197del | GLY197DEL |
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