Samples with Characterized Mutations
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| Records Return:
(6)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00378 | Fibroblast | | G>A | 414 | TGG>TGA | 753 | W138* | TRP138TER, 414G>A |
| GM00378 | Fibroblast | 11 | T>C | IVS11+2 | | | exon 11 skipped | IVS11+2,T>C |
| GM00379 | Fibroblast | | G>A | 414 | TGG>TGA | 753 | W138* | TRP138TER, 414G>A |
| GM00379 | Fibroblast | 11 | T>C | IVS11+2 | | | exon 11 skipped | IVS11+2,T>C |
| GM00906 | Fibroblast | | G>A | 414 | TGG>TGA | 753 | W138* | TRP138TER, 414G>A |
| GM00907 | Fibroblast | 11 | T>C | IVS11+2 | | | exon 11 skipped | IVS11+2,T>C |
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