Samples with Characterized Mutations
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(47)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00149 | B-Lymphocyte | | G>T | 855 | K>N | 285 | K285N | LYS285ASN |
| GM00422 | Fibroblast | | C>A | 1030 | Q>K | 344 | Q344K | GLN344LYS |
| GM00422 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM00433 | Fibroblast | | C>T | 404 | S>L | 135 | S135L | SER135LEU |
| GM00438 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM00439 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM00440 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM00441 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM00528 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM00727 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM01028 | B-Lymphocyte | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM01029 | B-Lymphocyte | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM01210 | Fibroblast | | G>C | 292 | D>H | 98 | D98H | ASP98HIS |
| GM01211 | Fibroblast | | C>T | 609 | THR>ILE | 130 | missense polymorphism | THR130ILE |
| GM01212 | Fibroblast | | G>C | 292 | D>H | 98 | D98H | ASP98HIS |
| GM01417 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM01418 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM01419 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM01533 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
| GM01703 | Fibroblast | | A>G | 563 | Q>R | 188 | Q188R | GLN188ARG |
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