Samples with Characterized Mutations
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| Records Return:
(2)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00989 | Fibroblast | | C>T | 2142 | R>C | 644 | R644C | ARG644CYS |
| GM01972 | Fibroblast | | C>T | 2036 | G>G | 608 | alternative splicing; del50 | GLY608GLY |
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