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 |
| GM01856 | Fibroblast | | | | | | | c.479C>T (p.Ala160Val) |
| GM01856 | Fibroblast | | G>T | 37 | Glu>Ter | 13 | p.Glu13* | c.37G>T (p.GLU13*) |
| GM28257 | Fibroblast | | G>A | 173+1 | | | | C.173+1G>A (SPLICE DONOR) |
| GM28257 | Fibroblast | | G>T | 37 | Glu>Ter | 13 | p.Glu13* | c.37G>T (p.GLU13*) |
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