Samples with Characterized Mutations
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(181)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00142 | Fibroblast | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM00142 | Fibroblast | | G>A | 1784 | G>D | 551 | G551D | GLY551ASP |
| GM00504 | B-Lymphocyte | | G>T | 1756 | G>X | 542 | G542X | GLY542TER |
| GM00504 | B-Lymphocyte | | A>G | 1958 | H>R | 609 | H609R | HIS609ARG |
| GM00768 | Fibroblast | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM00770 | Fibroblast | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM00897 | B-Lymphocyte | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM00897 | B-Lymphocyte | | C>G | 1172 | R>P | 347 | R347P | ARG347PRO |
| GM00997 | Fibroblast | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM00999 | Fibroblast | | insTC | 1154 | | | frameshift | 1154insTC |
| GM00999 | Fibroblast | 4 | G>T | 621+1 | | | mRNA splicing defect | 621+1G>T |
| GM01012 | Fibroblast | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM01014 | Fibroblast | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM01348 | Fibroblast | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM01445 | B-Lymphocyte | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM01530 | B-Lymphocyte | | G>T | 1756 | G>X | 542 | G542X | GLY542TER |
| GM01530 | B-Lymphocyte | | A>G | 1958 | H>R | 609 | H609R | HIS609ARG |
| GM01531 | B-Lymphocyte | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM01707 | Fibroblast | | del3 | | del Phe | 508 | F508del | PHE508DEL |
| GM01957 | Fibroblast | | del3 | | del Phe | 508 | F508del | PHE508DEL |
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