Samples with Characterized Mutations
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| Records Return:
(39)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM21500 | B-Lymphocyte | 15 | A>G | IVS15-2 | | | skipped exon 16 | IVS15-2A>G |
| GM21501 | Fibroblast | 15 | A>G | IVS15-2 | | | skipped exon 16 | IVS15-2A>G |
| GM21507 | B-Lymphocyte | | | | G>V | 85 | G85V | GLY85VAL |
| GM21508 | Fibroblast | | | | G>V | 85 | G85V | GLY85VAL |
| GM21566 | B-Lymphocyte | | C>T | 3070 | R>X | 1024 | R1024X | ARG1024TER |
| GM21567 | Fibroblast | | C>T | 3070 | R>X | 1024 | R1024X | ARG1024TER |
| GM21594 | B-Lymphocyte | 37 | delG | IVS37+1 | | | exon 37 skipped | IVS37+1delG |
| GM21595 | Fibroblast | 37 | delG | IVS37+1 | | | exon 37 skipped | IVS37+1delG |
| GM21662 | B-Lymphocyte | | G>A | 1618 | G>R | 373 | G373R | GLY373ARG |
| GM21663 | Fibroblast | | G>A | 1618 | G>R | 373 | G373R | GLY373ARG |
| GM21762 | B-Lymphocyte | | C>T | 3070 | R>X | 1024 | R1024X | ARG1024TER |
| GM21787 | B-Lymphocyte | 40 | G>A | IVS40-1 | | | | IVS40-1G>A |
| GM21788 | Fibroblast | 40 | G>A | IVS40-1 | | | | IVS40-1G>A |
| GM22051 | B-Lymphocyte | | G>A | 2123 | G>D | 708 | G708D | GLY708ASP |
| GM22070 | B-Lymphocyte | | | | G>R | 178 | G178R | GLY178ARG |
| GM22071 | Fibroblast | | | | G>R | 178 | G178R | GLY178ARG |
| GM22102 | Fibroblast | | C>T | 3070 | R>X | 1024 | R1024X | ARG1024TER |
| GM22103 | Fibroblast | | C>T | 3070 | R>X | 1024 | R1024X | ARG1024TER |
| GM22272 | B-Lymphocyte | | C>T | 3070 | R>X | 1024 | R1024X | ARG1024TER |
| GM22376 | B-Lymphocyte | | C>T | 4318 | P>S | 1440 | P1440S | PRO1440SER |
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