Samples with Characterized Mutations
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| Records Return:
(7)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00449 | Fibroblast | | A>T | IVS4+4 | del111 | | exon 4 deleted | IVS,A>T,+4 |
| GM04510 | B-Lymphocyte | | A>T | IVS4+4 | del111 | | exon 4 deleted | IVS,A>T,+4 |
| GM12794 | B-Lymphocyte | | delG | 322 | | | | 1-BP DEL, 322G |
| GM13020 | B-Lymphocyte | | T>C | 1916 | L>P | 554 | L554P | LEU554PRO |
| GM13021 | B-Lymphocyte | | T>C | 1916 | L>P | 554 | L554P | LEU554PRO |
| GM20731 | B-Lymphocyte | | A>T | IVS4+4 | del111 | | exon 4 deleted | IVS,A>T,+4 |
| GM20732 | B-Lymphocyte | | A>T | IVS4+4 | del111 | | exon 4 deleted | IVS,A>T,+4 |
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