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 |
GM29051 | Fibroblast | | | | | | | c.1499G>A (p.Arg500His) |
GM29051 | Fibroblast | | dup | 563_5 | dup | 192 | Trp > STOP | c.563_5/2dup (p.Trp192*) |
GM29052 | Fibroblast | | | | | | | c.545G>A (p.R182G) |
GM29071 | Fibroblast | | dup | 563_5 | dup | 192 | Trp > STOP | c.563_5/2dup (p.Trp192*) |
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