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 |
| GM03542 | Fibroblast | | G>A | 1436 | R>Q | 479 | R479Q | ARG479GLN |
| GM03542 | Fibroblast | | T>C | 1790 | L>P | 599 | L599P | LEU599PRO |
| GM04313 | Fibroblast | | A>G | 1666 | T>A | 556 | T556A | THR556ALA |
| GM04313 | Fibroblast | | delT | 1937 | | 646 | 646fsX673 | 1937delT |
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