Samples with Characterized Mutations
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(43)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM01390 | Fibroblast | | G>A | 646 | G>R | 216 | G216R | GLY216ARG |
| GM01715 | B-Lymphocyte | | G>A | 302 | R>Q | 101 | R101Q | ARG101GLN |
| GM01715 | B-Lymphocyte | 1 | G>C | IVS1+1 | | | | IVS1DS, G>C, +1 |
| GM01997 | Fibroblast | | G>A | 643 | A>T | 215 | A215T | ALA215THR |
| GM02294 | B-Lymphocyte | | G>A | 643 | A>T | 215 | A215T | ALA215THR |
| GM02434 | Fibroblast | | C>T | 466 | R>C | 156 | R156C | ARG156CYS |
| GM02434 | Fibroblast | | T>G | 911 | L>R | 304 | L304R | LEU304ARG |
| GM02436 | Fibroblast | | G>A | 646 | G>R | 216 | G216R | GLY216ARG |
| GM02445 | Fibroblast | | G>A | 302 | R>Q | 101 | R101Q | ARG101GLN |
| GM02445 | Fibroblast | 1 | G>C | IVS1+1 | | | | IVS1DS, G>C, +1 |
| GM02446 | Fibroblast | | G>A | 727 | R>H | 211 | R211H | ARG211HIS |
| GM02471 | B-Lymphocyte | | C>T | 466 | R>C | 156 | R156C | ARG156CYS |
| GM02471 | B-Lymphocyte | | T>G | 911 | L>R | 304 | L304R | LEU304ARG |
| GM02605 | Fibroblast | | C>T | 396 | R>W | 101 | R101W | ARG101TRP |
| GM02605 | Fibroblast | | G>A | 727 | R>H | 211 | R211H | ARG211HIS |
| GM02606 | B-Lymphocyte | | C>T | 396 | R>W | 101 | R101W | ARG101TRP |
| GM02606 | B-Lymphocyte | | G>A | 727 | R>H | 211 | R211H | ARG211HIS |
| GM02756 | B-Lymphocyte | | C>T | 1081 | A>V | 329 | A329V | ALA329VAL |
| GM02756 | B-Lymphocyte | | G>A | 727 | R>H | 211 | R211H | ARG211HIS |
| GM02824 | Fibroblast | | C>T | 1081 | A>V | 329 | A329V | ALA329VAL |
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