Samples with Characterized Mutations
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| Records Return:
(7)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM20466 | B-Lymphocyte | | C>T | 604 | Q>X | 202 | Q202X | GLN202TER |
| GM20466 | B-Lymphocyte | | delA | 752 | K>X | 253 | K253fsX12 | 752delA |
| GM20467 | Fibroblast | | C>T | 604 | Q>X | 202 | Q202X | GLN202TER |
| GM20467 | Fibroblast | | delA | 752 | K>X | 253 | K253fsX12 | 752delA |
| GM21872 | Fibroblast | | delAGAAA | 307_311 | | I102 | I102fsX1 | 307_311delAGAAA |
| GM21873 | Amniotic fluid-derived cell line | | delA | 752 | K>X | 253 | K253fsX12 | 752delA |
| GM21873 | Amniotic fluid-derived cell line | 6 | A>G | IVS6-7 (c.1132) | insLX | I377_378 | I377_378insLX | IVS6-7A>G |
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