Samples with Characterized Mutations
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| Records Return:
(48)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM02343 | Fibroblast | | C>T | 693 | Y>Y | 231 | Y231Y | TYR231TYR |
| GM02343 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04585 | B-Lymphocyte | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04586 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04587 | B-Lymphocyte | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04589 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04637 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04663 | Fibroblast | | C>T | 693 | Y>Y | 231 | Y231Y | TYR231TYR |
| GM04663 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04895 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04896 | B-Lymphocyte | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04897 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04898 | B-Lymphocyte | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04899 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04900 | B-Lymphocyte | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04956 | B-Lymphocyte | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04957 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04959 | Fibroblast | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM04960 | B-Lymphocyte | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
| GM05041 | B-Lymphocyte | 20 | T>C | 2204+6 | | | deletion exon 20 | c.2204+6T>C (IVS20+6T>C) |
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