Samples with Characterized Mutations
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| Records Return:
(32)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00077 | Fibroblast | | delG | 436 | | 146 | | 436delG |
| GM00221 | Fibroblast | | dupTATC | 1274_1277 | | 427 | | c.1274_1277dupTATC |
| GM00502 | Fibroblast | | dupTATC | 1274_1277 | | 427 | | c.1274_1277dupTATC |
| GM00502 | Fibroblast | 12 | G>C | IVS12+1 | | | | IVS12DS, G>C, +1 |
| GM00515 | Fibroblast | | | | W>X | 392 | W392X | TRP392TER |
| GM00515 | Fibroblast | | dupTATC | 1274_1277 | | 427 | | c.1274_1277dupTATC |
| GM00527 | Fibroblast | | G>C | 1260 | W>C | 420 | W420C | TRP420CYS |
| GM00527 | Fibroblast | 11 | G>C | 1330+1 | | | | IVS11+1G>C |
| GM01110 | Fibroblast | | G>A | 1444 | E>K | 482 | E482K | GLU482LYS |
| GM02968 | Fibroblast | | dupTATC | 1274_1277 | | 427 | | c.1274_1277dupTATC |
| GM02968 | Fibroblast | 12 | G>C | IVS12+1 | | | | IVS12DS, G>C, +1 |
| GM03052 | Fibroblast | | dupTATC | 1274_1277 | | 427 | | c.1274_1277dupTATC |
| GM03441 | B-Lymphocyte | | G>A | 805 | G>S | 269 | G269S | GLY269SER |
| GM03441 | B-Lymphocyte | 12 | G>C | IVS12+1 | | | | IVS12DS, G>C, +1 |
| GM03461 | B-Lymphocyte | | G>A | 805 | G>S | 269 | G269S | GLY269SER |
| GM03461 | B-Lymphocyte | 12 | G>C | IVS12+1 | | | | IVS12DS, G>C, +1 |
| GM03575 | B-Lymphocyte | | dupTATC | 1274_1277 | | 427 | | c.1274_1277dupTATC |
| GM03575 | B-Lymphocyte | | G>A | 805 | G>S | 269 | G269S | GLY269SER |
| GM03585 | B-Lymphocyte | | dupTATC | 1274_1277 | | 427 | | c.1274_1277dupTATC |
| GM03586 | B-Lymphocyte | | dupTATC | 1274_1277 | | 427 | | c.1274_1277dupTATC |
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