Samples with Characterized Mutations
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| Records Return:
(104)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00717 | B-Lymphocyte | | | | | | | c.1564_1565delGA (p.Glu522Ilefs) |
| GM01525 | B-Lymphocyte | | ins2 | 6404 | L>X | 2135 | L2073fsX2135 | 6404insTT |
| GM01526 | B-Lymphocyte | | T>C | 2 | M>T | 1 | MET1THR | 2T>C;no initiation |
| GM01588 | Fibroblast | | C>T | 103 | R>X | 35 | R35X | ARG35TER |
| GM02052 | Fibroblast | | C>T | 103 | R>X | 35 | R35X | ARG35TER |
| GM02531 | Fibroblast | | del19 | 2251 | S>X | 750 | S689fsX750 | 2251del19 |
| GM02531 | Fibroblast | | del88 | 5675 | E>X | 1892 | E1892fsX | 5675del88 |
| GM03187 | B-Lymphocyte | | ins4 | 1141 | S>X | 381 | S381fsX | 1141ins4 |
| GM03188 | B-Lymphocyte | | A>T | 8266 | K>X | 2756 | LYS2756TER | 8266A>T |
| GM03189 | B-Lymphocyte | | ins4 | 1141 | S>X | 381 | S381fsX | 1141ins4 |
| GM03189 | B-Lymphocyte | | A>T | 8266 | K>X | 2756 | LYS2756TER | 8266A>T |
| GM03332 | B-Lymphocyte | | G>A | 7913 | W>X | 2638 | W2638X | TRP2638TER |
| GM03334 | B-Lymphocyte | | G>A | 7913 | W>X | 2638 | W2638X | TRP2638TER |
| GM03382 | B-Lymphocyte | | G>A | 7913 | W>X | 2638 | W2638X | TRP2638TER |
| GM03395 | Fibroblast | | G>A | 7913 | W>X | 2638 | W2638X | TRP2638TER |
| GM03396 | Fibroblast | | G>A | 7913 | W>X | 2638 | W2638X | TRP2638TER |
| GM03397 | Fibroblast | | G>A | 7913 | W>X | 2638 | W2638X | TRP2638TER |
| GM03487 | Fibroblast | | ins4 | 1141 | S>X | 381 | S381fsX | 1141ins4 |
| GM03487 | Fibroblast | | A>T | 8266 | K>X | 2756 | LYS2756TER | 8266A>T |
| GM03488 | Fibroblast | | ins4 | 1141 | S>X | 381 | S381fsX | 1141ins4 |
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