Samples with Characterized Mutations
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(10)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM02241 | Fibroblast | 2 | A/C>G | IVS2-13 (656) | | | | IVS2AS,A/C>G,-13 |
| GM02242 | B-Lymphocyte | 2 | A/C>G | IVS2-13 (656) | | | | IVS2AS,A/C>G,-13 |
| GM11781 | B-Lymphocyte | 2 | A/C>G | IVS2-13 (656) | | | | IVS2AS,A/C>G,-13 |
| GM12217 | B-Lymphocyte | | del30 | | | | deleted exons 3-4 | 30-KB DEL |
| GM12217 | B-Lymphocyte | | T>A | | I>N | 172 | I172N | ILE172ASN |
| GM14732 | B-Lymphocyte | | | | | | | DEL |
| GM14733 | B-Lymphocyte | | del30 | | | | deleted exons 3-4 | 30-KB DEL |
| GM14734 | B-Lymphocyte | | | | | | | DEL |
| GM14734 | B-Lymphocyte | | del30 | | | | deleted exons 3-4 | 30-KB DEL |
| GM23896 | B-Lymphocyte | | S153Q | 153 | | 263 | | 457delT |
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