Samples with Characterized Mutations
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| Records Return:
(68)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00030 | Fibroblast | | ins83 | 462 | | | | 83-BP INS, NT462 |
| GM00671 | Fibroblast | | ins3 | | | 580 | | 3-BP INS, GGT, CODON 580 AND LYS822GLN |
| GM02096 | Fibroblast | | | | P>H | 218 | P218H | PRO218HIS |
| GM02246 | B-Lymphocyte | | del2 | 1132_1133 | | | | 2-BP DEL, 1132AA |
| GM02248 | B-Lymphocyte | | ins83 | 462 | | | | 83-BP INS, NT462 |
| GM02249 | B-Lymphocyte | | ins3 | | | 580 | | 3-BP INS, GGT, CODON 580 AND LYS822GLN |
| GM02634 | B-Lymphocyte | | | | P>H | 218 | P218H | PRO218HIS |
| GM02996 | Fibroblast | | delTG | 1744_1745 | | H547 | H547fsX572 | 1744_1745delTG |
| GM04489 | Fibroblast | 11 | delAG;insCC | IVS11-1;IVS11-6 | | | skipped ex 12 | IVS11-1_IVS11-2delAG; IVS11-6_IVS11-7insCC |
| GM04490 | B-Lymphocyte | 11 | delAG;insCC | IVS11-1;IVS11-6 | | | skipped ex 12 | IVS11-1_IVS11-2delAG; IVS11-6_IVS11-7insCC |
| GM04491 | B-Lymphocyte | 11 | delAG;insCC | IVS11-1;IVS11-6 | | | skipped ex 12 | IVS11-1_IVS11-2delAG; IVS11-6_IVS11-7insCC |
| GM05791 | B-Lymphocyte | | delAA | 1208_1209 | | Q368 | Q368fsX373 | 1208_1209delAA |
| GM05791 | B-Lymphocyte | | delTG | 1744_1745 | | H547 | H547fsX572 | 1744_1745delTG |
| GM05792 | Fibroblast | | delAA | 1208_1209 | | Q368 | Q368fsX373 | 1208_1209delAA |
| GM05792 | Fibroblast | | delTG | 1744_1745 | | H547 | H547fsX572 | 1744_1745delTG |
| GM09943 | Fibroblast | | | | | | | c.2T>G |
| GM10881 | Fibroblast | | del2 | 1132_1133 | | | | 2-BP DEL, 1132AA |
| GM11637 | B-Lymphocyte | | C>T | 568 | R>X | 155 | R155X | ARG155TER |
| GM11637 | B-Lymphocyte | 5.1 | A>G | IVS5.1-2 | | | 83 bp ins/stop 34 codons downstream/del ex 5.2/stop 7 codons downstream | IVS5.1-2A>G |
| GM11638 | Fibroblast | | C>T | 568 | R>X | 155 | R155X | ARG155TER |
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