Samples with Characterized Mutations
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(20)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM09404 | Fibroblast | | C>T | 100 | P>S | 34 | P34S | PRO34SER |
| GM09404 | Fibroblast | | T>A | g.4023 (c.860) | I>N | 287 | I287N | ILE287ASN |
| GM16485 | Fibroblast | | C>T | g.3084 (c.379) | R>X | 127 | R127X | ARG127TER |
| GM16485 | Fibroblast | | C>T | g.3670 (c.622) | R>X | 208 | R208X | ARG208TER |
| GM16486 | Fibroblast | | G>A | g.3085 (c.380) | R>Q | 127 | R127Q | ARG127GLN |
| GM16486 | Fibroblast | 5 | G>C | g.3556 (IVS5-1) | | | | IVS5AS, G>C, -1 |
| GM20377 | B-Lymphocyte | | | | | | | c.376_380+6del |
| GM20377 | B-Lymphocyte | | C>T | g.3670 (c.622) | R>X | 208 | R208X | ARG208TER |
| GM20378 | B-Lymphocyte | 5 | G>A | IVS5-1 | | | | IVS5-1G>A |
| GM20378 | B-Lymphocyte | 7 | A>G | 4188 | ins6 | 296 | G296-R297ins6[IVS7-18] | 4188A>G |
| GM20385 | B-Lymphocyte | 5 | G>A | IVS5-1 | | | | IVS5-1G>A |
| GM20385 | B-Lymphocyte | 5 | G>C | g.3556 (IVS5-1) | | | | IVS5AS, G>C, -1 |
| GM20387 | B-Lymphocyte | | C>T | g.3670 (c.622) | R>X | 208 | R208X | ARG208TER |
| GM20387 | B-Lymphocyte | 5 | G>C | g.3556 (IVS5-1) | | | | IVS5AS, G>C, -1 |
| GM27177 | Stem cell | 5 | G>A | IVS5-1 | | | | IVS5-1G>A |
| GM27177 | Stem cell | 5 | G>C | g.3556 (IVS5-1) | | | | IVS5AS, G>C, -1 |
| GM27465 | Stem cell | | C>T | g.3084 (c.379) | R>X | 127 | R127X | ARG127TER |
| GM27465 | Stem cell | | C>T | g.3670 (c.622) | R>X | 208 | R208X | ARG208TER |
| GM28380 | Stem cell | | G>A | g.3085 (c.380) | R>Q | 127 | R127Q | ARG127GLN |
| GM28380 | Stem cell | 5 | G>C | g.3556 (IVS5-1) | | | | IVS5AS, G>C, -1 |
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