Samples with Characterized Mutations
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| Records Return:
(10)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM01981 | Fibroblast | | del5 | 803_807 | | 219 | fs Leu219 | 803_807delATCTC |
| GM01982 | B-Lymphocyte | | del5 | 803_807 | | 219 | fs Leu219 | 803_807delATCTC |
| GM13667 | Fibroblast | | del2 | 1893_1894 | | 582 | fs ile582 | 1893_1894delAG |
| GM13668 | Fibroblast | | del5 | 798_802 | | 218 | fs his218 | 798_802delATCTT |
| GM13669 | Fibroblast | 8 | T>C | IVS8+2 | | | skipped exon 8 | IVS8DS+2, T>C |
| GM13670 | Fibroblast | | G>A | 2324 | G>R | 727 | G727R | GLY727ARG |
| GM13671 | Fibroblast | | C>T | 2078 | R>X | 645 | R645X | ARG645TER |
| GM13672 | Fibroblast | | dupAAGAT | junction 2091/2092 | | 649 | fs Gln649 | 5 BP DUP |
| GM13674 | Fibroblast | | C>T | 644 | Q>X | 167 | Q167X | GLN167TER |
| GM13675 | Fibroblast | 20 | A>G | IVS20-2 | | | | IVS20AS-2, A>G |
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