Samples with Characterized Mutations
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| Records Return:
(4)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM08761 | Fibroblast | | c.589G>A | 589 | G>R | 197 | GLY197ARG | c.589G>A |
| GM08761 | Fibroblast | | | 1 | | | deletion of exons 1-10 | 57-KB DEL |
| GM17888 | Fibroblast | | del5 | 545 | I>R | 69 | I69R stop at 73 | 5-BP DEL, NT545 |
| GM17888 | Fibroblast | 10 | C>G | IVS10-3 | | | | IVS10AS,C>G,-3 |
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