Samples with Characterized Mutations
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(108)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00244 | Fibroblast | | C>T | 2560 | R>X | 854 | R854X | ARG854TER |
| GM00244 | Fibroblast | | T>C | 953 | M>T | 318 | M318T | MET318THR |
| GM00248 | Fibroblast | | C>T | 2560 | R>X | 854 | R854X | ARG854TER |
| GM00338 | Fibroblast | | C>T | 2560 | R>X | 854 | R854X | ARG854TER |
| GM00443 | Fibroblast | 1 | T>G | IVS1-13 (-32-13) | | | del exon 2 | IVS1AS, T>G, -13 |
| GM01464 | B-Lymphocyte | 1 | T>G | IVS1-13 (-32-13) | | | del exon 2 | IVS1AS, T>G, -13 |
| GM01935 | Fibroblast | | C>A | 1935 | D>E | 645 | D645E | ASP645GLU |
| GM01935 | Fibroblast | | G>A | 2446 | V>I | 816 | V816I | VAL816ILE |
| GM01935 | Fibroblast | | C>T | 2560 | R>X | 854 | R854X | ARG854TER |
| GM01935 | Fibroblast | | C>T | 2780 | T>I | 927 | T927I | THR927ILE |
| GM03329 | Fibroblast | | A>G | 1555 | M>V | 519 | M519V | MET519VAL |
| GM03329 | Fibroblast | 8 | G>A | IVS8+1 | | | | IVS8+1G>A |
| GM04912 | Fibroblast | | delT | 1441 | | | | 1441delT |
| GM04912 | Fibroblast | | G>A | 2237 | W>X | 746 | W746X | TRP746TER |
| GM06314 | B-Lymphocyte | 1 | T>G | IVS1-13 (-32-13) | | | del exon 2 | IVS1AS, T>G, -13 |
| GM06314 | B-Lymphocyte | 10 | G>C | IVS10+1 | | | | IVS10+1G>C |
| GM11661 | Fibroblast | | del | 2481+102_2646+31 | | | Gly828_Asn882del | EX18DEL |
| GM11661 | Fibroblast | 1 | T>G | IVS1-13 (-32-13) | | | del exon 2 | IVS1AS, T>G, -13 |
| GM11759 | B-Lymphocyte | | C>T | 1880 | S>F | 627 | S627F | SER627PHE |
| GM11759 | B-Lymphocyte | 1 | T>G | IVS1-13 (-32-13) | | | del exon 2 | IVS1AS, T>G, -13 |
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