Samples with Characterized Mutations
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Records Return:
(15)
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Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
GM22128 | B-Lymphocyte | | T>C | c.635 | L>P | 212 | L212P | LEU212PRO |
GM22129 | B-Lymphocyte | 1 | G>A | IVS1+5 (c.109+5) | | | | IVS1+5G>A |
GM22130 | B-Lymphocyte | | C>G | c.207 | H>Q | 69 | H69Q | HIS69GLN |
GM22147 | B-Lymphocyte | 1 | G>C | IVS1+5 (c.109+5) | | | | IVS1+5G>C |
GM22148 | B-Lymphocyte | | delC | c.124 | L>X | 42 | L42X | LEU42TER |
GM22149 | B-Lymphocyte | | C>T | c.367 | R>X | 123 | R123X | ARG123TER |
GM22150 | B-Lymphocyte | | G>A | c.236 | W>X | 79 | W79X | TRP79TER |
GM22163 | B-Lymphocyte | | delA | c.171 | G>A | 58 | G58AfsX25 | 171delA |
GM22164 | B-Lymphocyte | | C>T | c.697 | Q>X | 233 | Q233X | GLN233TER |
GM22165 | B-Lymphocyte | 1 | A>G | IVS1-2 (c.110-2) | | | | IVS1-2A>G |
GM22192 | B-Lymphocyte | | C>T | 280 | R>C | 94 | R94C | ARG94CYS |
GM22193 | B-Lymphocyte | | T>A | c.498 | L>X | 166 | L166X | LEU166TER |
GM22194 | B-Lymphocyte | | | | | | | COMPLETE DELETION |
GM22382 | B-Lymphocyte | | T>C | 383 | F>S | 128 | F128S | PHE128SER |
GM23986 | B-Lymphocyte | | A>G | c.553 | | | M185V | MET185VAL |
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