Samples with Characterized Mutations
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(7)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
| GM16387 | B-Lymphocyte | | T>C | | M>T | 467 | M467T | MET467THR |
| GM16481 | B-Lymphocyte | | T>C | | M>T | 467 | M467T | MET467THR |
| GM16483 | B-Lymphocyte | | T>C | | M>T | 467 | M467T | MET467THR |
| GM16500 | B-Lymphocyte | | T>C | | M>T | 467 | M467T | MET467THR |
| GM16753 | B-Lymphocyte | | T>C | 789+2 | | | splicing site mutation | 789+2T>C |
| GM16753 | B-Lymphocyte | | C>T | 1352 | T>M | 389 | T389M | THR389MET |
| GM17575 | B-Lymphocyte | | T>C | | M>T | 467 | M467T | MET467THR |
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