Samples with Characterized Mutations
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| Records Return:
(7)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
| GM00654 | Fibroblast | | C>T | | Q>X | 639 | Q639X | GLN639TER |
| GM00654 | Fibroblast | | C>T | 2248 | R>W | 750 | R750W | ARG750TRP |
| GM02049 | Fibroblast | | A>T | 212 | H>L | 71 | H71L | HIS71LEU |
| GM02050 | Fibroblast | | A>T | 212 | H>L | 71 | H71L | HIS71LEU |
| GM02051 | Fibroblast | | A>T | 212 | H>L | 71 | H71L | HIS71LEU |
| GM02817 | Fibroblast | | C>T | 2248 | R>W | 750 | R750W | ARG750TRP |
| GM04518 | Fibroblast | | C>G | 1067 | P>R | 356 | P356R | PRO356ARG |
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