Samples with Characterized Mutations
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(32)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM25382 | B-Lymphocyte | | C>T | 808 | CGA>TGA | 270 | p.R270X | ARG270TER |
| GM25382 | B-Lymphocyte | 2 | 116+215insCCTTT | | | | | c.116+215insCCTTT |
| GM25382 | B-Lymphocyte | 2 | C>T | 116+80 | | | | c.116+80C>T |
| GM25383 | Fibroblast | | C>T | 808 | CGA>TGA | 270 | p.R270X | ARG270TER |
| GM25383 | Fibroblast | 2 | 116+215insCCTTT | | | | | c.116+215insCCTTT |
| GM25383 | Fibroblast | 2 | C>T | 116+80 | | | | c.116+80C>T |
| GM25385 | B-Lymphocyte | | C>T | 808 | CGA>TGA | 270 | p.R270X | ARG270TER |
| GM25386 | Fibroblast | | C>T | 808 | CGA>TGA | 270 | p.R270X | ARG270TER |
| GM25392 | B-Lymphocyte | | A>G | | GCA>GCG | 117 | non-disease causing | ALA117ALA |
| GM25392 | B-Lymphocyte | 3 | G>T | c.189+1 | | | | c.189+1G>T |
| GM25393 | Fibroblast | | A>G | | GCA>GCG | 117 | non-disease causing | ALA117ALA |
| GM25393 | Fibroblast | 3 | G>T | c.189+1 | | | | c.189+1G>T |
| GM25394 | B-Lymphocyte | | A>T | 295 | | | | 295 A>T |
| GM25394 | B-Lymphocyte | | C>T | 887 | CGA>TGA | | R239X | c.887 C>T |
| GM25399 | B-Lymphocyte | | A>G | | GCA>GCG | 117 | non-disease causing | ALA117ALA |
| GM25399 | B-Lymphocyte | | C>T | 808 | CGA>TGA | 270 | p.R270X | ARG270TER |
| GM25400 | Fibroblast | | A>G | | GCA>GCG | 117 | non-disease causing | ALA117ALA |
| GM25400 | Fibroblast | | C>T | 808 | CGA>TGA | 270 | p.R270X | ARG270TER |
| GM25420 | B-Lymphocyte | | C>T | 569 | S>X | 190 | p.S190X | SER190TER |
| GM25421 | Fibroblast | | C>T | 569 | S>X | 190 | p.S190X | SER190TER |
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