Samples with Characterized Mutations
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| Records Return:
(12)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM26249 | B-Lymphocyte | | A>G | 1007 | Q>R | 336 | | p.Q336R; c.1007A>G |
| GM26250 | B-Lymphocyte | | A>G | 1007 | Q>R | 336 | | p.Q336R; c.1007A>G |
| GM26251 | B-Lymphocyte | | A>G | 1007 | Q>R | 336 | | p.Q336R; c.1007A>G |
| GM26636 | Fibroblast | | A>G | 1007 | Q>R | 336 | | p.Q336R; c.1007A>G |
| GM27291 | Stem cell | | A>G | 1007 | Q>R | 336 | | p.Q336R; c.1007A>G |
| GM27894 | Fibroblast | | A>G | 1007 | Q>R | 336 | | p.Q336R; c.1007A>G |
| GM27898 | Fibroblast | | del | 3200 | Leu>TyrfsTer | 1067 | p.Leu1067Tyrfs*10 | c.3200del (p.Leu1067TyrfsTer10) |
| GM27898 | Fibroblast | | G>A | 2595 | Trp>Ter | | p.Trp865* | c.2595G>A (p.Trp865Ter) |
| GM27900 | B-Lymphocyte | | del | 3200 | Leu>TyrfsTer | 1067 | p.Leu1067Tyrfs*10 | c.3200del (p.Leu1067TyrfsTer10) |
| GM27900 | B-Lymphocyte | | G>A | 2595 | Trp>Ter | | p.Trp865* | c.2595G>A (p.Trp865Ter) |
| GM30117 | B-Lymphocyte | | | 310 | | 105 | | c.310_311dup(p.Glu105Argfs*29) |
| GM30117 | B-Lymphocyte | | | 1777 | | 593 | | c.1777_1781del(p.Gly593*) |
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