Samples with Characterized Mutations
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(6)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
| GM16633 | Fibroblast | | G>A | 3707 | R>H | 1236 | R1236H | ARG1236HIS |
| GM16633 | Fibroblast | 5 | A>G | 376 | S>G | 126 | S126G and 13bp ins | SER126GLY AND 13-BP INS |
| GM16634 | Microcell hybrid | | G>A | 3707 | R>H | 1236 | R1236H | ARG1236HIS |
| GM16634 | Microcell hybrid | 5 | A>G | 376 | S>G | 126 | S126G and 13bp ins | SER126GLY AND 13-BP INS |
| GM16756 | B-Lymphocyte | | G>A | 3707 | R>H | 1236 | R1236H | ARG1236HIS |
| GM16756 | B-Lymphocyte | 5 | A>G | 376 | S>G | 126 | S126G and 13bp ins | SER126GLY AND 13-BP INS |
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