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 |
GM00512 | Fibroblast | | | | | | | LEU490PRO |
GM00963 | Fibroblast | | | | | | | ALA75THR |
GM00963 | Fibroblast | | | | | | | PRO496LEU |
GM01898 | Fibroblast | | | | | | | GLY409ARG AND TER654CYS |
GM02016 | Fibroblast | | | | | | | GLY409ARG AND TER654CYS |
GM02016 | Fibroblast | | C>T; C>T; G>C | 1023; 2850; 4180 | T>I; R>C; S>T | 107; 296; 486 | T107I; R296C; S486T | THR107ILE, ARG296CYS, AND SER486THR |
GM02016 | Fibroblast | | dup | | | | | DUP |
GM02017 | Fibroblast | | | | | | | GLY409ARG AND TER654CYS |
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