Samples with Characterized Mutations
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| Records Return:
(7)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00568 | Fibroblast | | G>A | 482 | R>Q | 161 | R161Q | ARG161GLN |
| GM00568 | Fibroblast | | G>C | 488 | C>S | 163 | C163S | CYS163SER |
| GM02056 | Fibroblast | | G>A | 482 | R>Q | 161 | R161Q | ARG161GLN |
| GM02056 | Fibroblast | | G>C | 488 | C>S | 163 | C163S | CYS163SER |
| GM02057 | Fibroblast | | G>A | 482 | R>Q | 161 | R161Q | ARG161GLN |
| GM02057 | Fibroblast | | G>C | 488 | C>S | 163 | C163S | CYS163SER |
| GM03560 | Fibroblast | | G>T, del133 | 807_940 | | | | 133-BP DEL, NT807-940DEL, FS, TER |
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