Samples with Characterized Mutations
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Records Return:
(18)
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Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
GM01854 | Fibroblast | 14 | C>A | IVS14-6 (c.2218) | | 739 | Q739insX42 | SPLICE ACCEPTOR C>A, FS |
GM01855 | B-Lymphocyte | 14 | C>A | IVS14-6 (c.2218) | | 739 | Q739insX42 | SPLICE ACCEPTOR C>A, FS |
GM02252 | B-Lymphocyte | 14 | C>A | IVS14-6 (c.2218) | | 739 | Q739insX42 | SPLICE ACCEPTOR C>A, FS |
GM11394 | B-Lymphocyte | 14 | C>A | IVS14-6 (c.2218) | | 739 | Q739insX42 | SPLICE ACCEPTOR C>A, FS |
GM13025 | Fibroblast | | T>C | 296 | F>S | 99 | F99S | PHE99SER |
GM13026 | Fibroblast | | T>C | 296 | F>S | 99 | F99S | PHE99SER |
GM13027 | Fibroblast | | T>C | 296 | F>S | 99 | F99S | PHE99SER |
GM13028 | Fibroblast | | T>C | 296 | F>S | 99 | F99S | PHE99SER |
GM21071 | Fibroblast | | T>C | 296 | F>S | 99 | F99S | PHE99SER |
GM21071 | Fibroblast | | C>T | c.1273 | R>X | 425 | R425X | ARG425TER |
GM21072 | Fibroblast | | C>T | c.1633 | Q>X | 545 | Q545X | GLN545TER |
GM21072 | Fibroblast | 14 | C>A | IVS14-6 (c.2218) | | 739 | Q739insX42 | SPLICE ACCEPTOR C>A, FS |
GM21148 | B-Lymphocyte | | T>C | 296 | F>S | 99 | F99S | PHE99SER |
GM21148 | B-Lymphocyte | | C>T | c.1273 | R>X | 425 | R425X | ARG425TER |
GM21149 | B-Lymphocyte | | T>C | 296 | F>S | 99 | F99S | PHE99SER |
GM21150 | B-Lymphocyte | | C>T | c.1273 | R>X | 425 | R425X | ARG425TER |
GM21153 | Fibroblast | | insA | c.1421 | D>E | 474 | p.D474EfsX475 | 1421_1422insA |
GM21153 | Fibroblast | 14 | C>A | IVS14-6 (c.2218) | | 739 | Q739insX42 | SPLICE ACCEPTOR C>A, FS |
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