Samples with Characterized Mutations
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| Records Return:
(3)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM01389 | Fibroblast | | 3 bp deletion | 1220_1222 | | 349 | N349del | ASN349del |
| GM01389 | Fibroblast | | T>C | 1224 | L>P | 350 | | LEU350PRO |
| GM02415 | Fibroblast | | G>A | 818 | R>H | 273 | R273H | ARG273HIS |
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