Samples with Characterized Mutations
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| Records Return:
(65)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM07982 | Fibroblast | | delG | 705 | | | | 705delG |
| GM07983 | B-Lymphocyte | | delG | 705 | | | | 705delG |
| GM11270 | Fibroblast | | C>T | 916 | R>C | 306 | R306C | ARG306CYS |
| GM11272 | Fibroblast | | del32 | 1155 | | 404 | | 1155del32 |
| GM11273 | Fibroblast | | C>T | 316 | | | | 316C>T |
| GM11299 | B-Lymphocyte | | C>T | 316 | R>W | 106 | R106W | ARG106TRP |
| GM11300 | B-Lymphocyte | | C>T | 316 | R>W | 106 | R106W | ARG106TRP |
| GM11301 | B-Lymphocyte | | delG | 705 | | | | 705delG |
| GM11304 | B-Lymphocyte | | C>T | 880 | R>X | 294 | R294X | ARG294TER |
| GM11310 | B-Lymphocyte | | C>T | 502 | R>X | 168 | R168X | ARG168TER |
| GM11313 | B-Lymphocyte | | | | | | deleted exons 3 and 4 | DEL EX3-4 |
| GM16270 | B-Lymphocyte | | C>T | 763 | R>X | 255 | R255X | ARG255TER |
| GM16271 | B-Lymphocyte | | C>T | 473 | T>M | 158 | T158M | THR158MET |
| GM16368 | B-Lymphocyte | | C>T | 473 | T>M | 158 | T158M | THR158MET |
| GM16382 | B-Lymphocyte | | del26 | 1160 | | | | 1160del26 |
| GM16405 | B-Lymphocyte | | G>A | 481 | G>V | 161 | G161V | GLY161VAL |
| GM16480 | B-Lymphocyte | | C>T | 916 | R>C | 306 | R306C | ARG306CYS |
| GM16497 | B-Lymphocyte | | C>T | 763 | R>X | 255 | R255X | ARG255TER |
| GM16546 | B-Lymphocyte | | C>T | 880 | R>X | 294 | R294X | ARG294TER |
| GM16547 | B-Lymphocyte | | C>T | 730 | Q>X | 244 | Q244X | GLU244TER |
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