Samples with Characterized Mutations
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| Records Return:
(47)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM02339 | Fibroblast | | | | | | | EX31-43DEL |
| GM03429 | Fibroblast | | | | | | | EX45-50DEL |
| GM03604 | Fibroblast | | | | | | | EX18-41DEL |
| GM03780 | B-Lymphocyte | | | | | | | EX3-17DEL |
| GM03781 | Fibroblast | | | | | | | EX3-17DEL |
| GM03782 | B-Lymphocyte | | | | | | | EX3-17DEL |
| GM03783 | Fibroblast | | | | | | | EX3-17DEL |
| GM03929 | B-Lymphocyte | | | | | | | EX46-50DEL |
| GM04099 | B-Lymphocyte | | | | | | | EX49-52DEL |
| GM04100 | B-Lymphocyte | | | | | | | EX49-52DEL |
| GM04315 | Fibroblast | | | | | | | EX44DEL |
| GM04327 | Fibroblast | | | | | | | EX5-7DUP |
| GM04364 | Fibroblast | | | | | | | EX51-55DEL |
| GM04619 | Fibroblast | | C>T | 8713 | R>X | 2905 | R2905X | ARG2905TER |
| GM04978 | Fibroblast | | C>T | 5893 | Q>X | 1965 | Q1965X | GLN1965TER |
| GM05016 | B-Lymphocyte | | | | | | | EX45-50DEL |
| GM05017 | Fibroblast | | | | | | | EX45-50DEL |
| GM05112 | Fibroblast | | | | | | | EX45DEL |
| GM05113 | B-Lymphocyte | | | | | | | EX45DEL |
| GM05114 | Fibroblast | | | | | | | EX45DEL |
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