Samples with Characterized Mutations
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Records Return:
(14)
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Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
GM23417 | B-Lymphocyte | | G>C | 32854 | GTT>CTT | 10952 | VAL10952LEU | 32854 G>C |
GM23417 | B-Lymphocyte | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
GM24268 | B-Lymphocyte | | G>A | | GAG>AAG | 368 | E368K | GLU368LYS |
GM24370 | B-Lymphocyte | | | | | | | c.1115T>C (p.Phe372Ser) |
GM25936 | Fibroblast | | del1 | 35 | | 12 | fs13Ter | 1-BP DEL, 35G |
GM25936 | Fibroblast | | T>C | | M>T | 34 | M34T | MET34THR |
GM25936 | Fibroblast | | G>C | 32854 | GTT>CTT | 10952 | VAL10952LEU | 32854 G>C |
GM25936 | Fibroblast | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
GM25948 | B-Lymphocyte | | del1 | 35 | | 12 | fs13Ter | 1-BP DEL, 35G |
GM25948 | B-Lymphocyte | | G>C | 32854 | GTT>CTT | 10952 | VAL10952LEU | 32854 G>C |
GM25951 | B-Lymphocyte | | T>C | | M>T | 34 | M34T | MET34THR |
GM25951 | B-Lymphocyte | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
GM25993 | B-Lymphocyte | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
GM27125 | B-Lymphocyte | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
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