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Samples with Characterized Mutations
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| Records Return:
(30)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM23308 | Fibroblast | | A>T | 2386 | K>X | 796 | K796X | LYS796TER |
| GM23308 | Fibroblast | 6 | C>G | 856-3 | | | | IVS6-3C>G |
| GM23330 | Fibroblast | 29 | G>A | 1823-8 | | | | 1823-8G>A |
| GM23681 | B-Lymphocyte | | C>T | 1552 | P>S | 518 | P518S | PRO518SER |
| GM23681 | B-Lymphocyte | | G>A | 901 | G>S | 301 | G301S | GLY301SER |
| GM23735 | B-Lymphocyte | | | | | | | Ex9 del |
| GM23782 | B-Lymphocyte | 9 | A>G | 955-2 | CAG>CGG | 319_333 | GLY319_LYS333DEL | 955-2A>G |
| GM24221 | B-Lymphocyte | | G>A | | | | | 877G>A |
| GM24231 | B-Lymphocyte | | | | | | | 1770+1delG |
| GM24231 | B-Lymphocyte | | | | | | | ARG784HIS |
| GM24232 | B-Lymphocyte | | A>T | 2386 | K>X | 796 | K796X | LYS796TER |
| GM24232 | B-Lymphocyte | 6 | C>G | 856-3 | | | | IVS6-3C>G |
| GM24240 | B-Lymphocyte | 18 | A>G | | | | | c.6310-2A>G |
| GM24259 | Fibroblast | | G>A | 1002+1 | | | | 1002+1G>A |
| GM24384 | Fibroblast | | G>A | 1182+3 | | | | 1182+3G>A |
| GM24384 | Fibroblast | | C>G | 1814 | | | | 1814-6C>G |
| GM24384 | Fibroblast | | G>A | 850 | GLY>ARG | 284 | | 850G>A |
| GM24391 | B-Lymphocyte | | | | | | | c.5044delC |
| GM24391 | B-Lymphocyte | | G>T | | | | | c.7066G>T |
| GM24405 | Fibroblast | 12 | | | G>A | | | 957+1G>A |
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