Samples with Characterized Mutations
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| Records Return:
(2)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM20949 | Fibroblast | | delAAT | 897_899 | del1 | I299 | delI299 | 897_899delAAT |
| GM20949 | Fibroblast | 7 | T>G | IVS7+2 | | | skipped ex 7-12 plus 22 bps of ex 13 | IVS7+2T>G |
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