Samples with Characterized Mutations
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| Records Return:
(3)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM16088 | Fibroblast | | G>A | 833 | R>H | 278 | R278H | ARG278HIS |
| GM17523 | Fibroblast | | C>T | 2440 | R>X | 814 | R814X | ARG814TER |
| GM17523 | Fibroblast | | G>A | 1406 | G>E | 469 | G469E | GLY469GLU |
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