Samples with Characterized Mutations
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| Records Return:
(8)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM02315 | Fibroblast | | A>T | 413 | E>V | 138 | E138V | GLU138VAL |
| GM20015 | Fibroblast | | A>G | 107 | Y>C | 36 | Y36C | TYR36CYS |
| GM20016 | Fibroblast | | A>G | 958 | N>D | 320 | N320D | ASN320ASP |
| GM20017 | Fibroblast | 13 | G>T | IVS13+1 | del348_366 | 348 | del348_366 | IVS13+1G>T |
| GM20018 | Fibroblast | | C>A | 665 | T>K | 222 | T222K | THR222LYS |
| GM20019 | Fibroblast | | G>A | 991 | D>N | 331 | D331N | ASP331ASN |
| GM20019 | Fibroblast | | G>T | 412 | del128_152 | 128 | del128_152 | 412G>T |
| GM28600 | Stem cell | | A>G | 107 | Y>C | 36 | Y36C | TYR36CYS |
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