Samples with Characterized Mutations
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| Records Return:
(6)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM06127 | Fibroblast | | c.1182+1G>A | | | | | IVS11DS, G-A, +1 |
| GM17475 | Fibroblast | | A>G | 364 | N>D | 122 | N122D | 364A>G |
| GM26193 | Fibroblast | | A>C | 1258 | | | | 1258A>C |
| GM26193 | Fibroblast | | T>C | 848 | | | | c.848T>C (p.Val283Ala) |
| GM26194 | Fibroblast | | G>A | 1358 | | 453 | | 1358G>A; R453Q |
| GM26194 | Fibroblast | | T>C | 1118 | | 373 | | 1118T>C; I373T |
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