Samples with Characterized Mutations
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(12)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
| GM23324 | Fibroblast | | A>G | 1688 | D>G | 563 | D563G | ASP563GLY |
| GM24234 | B-Lymphocyte | | A>G | 1688 | D>G | 563 | D563G | ASP563GLY |
| GM24343 | B-Lymphocyte | | A>G | 1688 | D>G | 563 | D563G | ASP563GLY |
| GM24406 | Fibroblast | 11 | | | | | | Del GT splice donor site |
| GM26007 | B-Lymphocyte | | | | | | | IVS11AS, G-A, -1 |
| GM26039 | B-Lymphocyte | | | | | | | c.5590G>A (p.A1864T) |
| GM27108 | B-Lymphocyte | | | | | | p.Gly290Trp | c.868G>T |
| GM27123 | B-Lymphocyte | 13 | G>A | 1003-1 | | | | c.1003-1G>A |
| GM27199 | B-Lymphocyte | | | | | | p.Gly281Arg | c.841G>A |
| GM29484 | Stem cell | | | | | | p.Gly290Trp | c.868G>T |
| GM29488 | Stem cell | 13 | G>A | 1003-1 | | | | c.1003-1G>A |
| GM29515 | Stem cell | | | | | | p.Gly281Arg | c.841G>A |
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