Samples with Characterized Mutations
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(11)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
| GM03549 | B-Lymphocyte | | | | | | | c.2692C>T (p.Q898X) |
| GM06146 | B-Lymphocyte | | G>A | 2249 | W>X | 750 | W750X | TRP750TER |
| GM06149 | Fibroblast | | G>A | 2249 | W>X | 750 | W750X | TRP750TER |
| GM07414 | B-Lymphocyte | | insA | 994_995 | | | | c.994_995insA |
| GM07415 | B-Lymphocyte | | insA | 994_995 | | | | c.994_995insA |
| GM07417 | B-Lymphocyte | | insA | 994_995 | | | | c.994_995insA |
| GM07418 | B-Lymphocyte | | insA | 994_995 | | | | c.994_995insA |
| GM07419 | B-Lymphocyte | | insA | 994_995 | | | | c.994_995insA |
| GM07420 | B-Lymphocyte | | insA | 994_995 | | | | c.994_995insA |
| GM07421 | B-Lymphocyte | | insA | 994_995 | | | | c.994_995insA |
| GM28959 | Stem cell | | G>A | 2249 | W>X | 750 | W750X | TRP750TER |
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