Samples with Characterized Mutations
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| Records Return:
(10)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM02525 | Fibroblast | | del6,450 | | | | del ex1-ex7 | 6,450-BP DEL |
| GM02526 | Fibroblast | | del6,450 | | | | del ex1-ex7 | 6,450-BP DEL |
| GM02526 | Fibroblast | 3 | A>G | 486-2 | | | exon 4 skipped | IVS3AS,A>G,-2 |
| GM02527 | Fibroblast | 3 | A>G | 486-2 | | | exon 4 skipped | IVS3AS,A>G,-2 |
| GM02528 | Fibroblast | | A>G | 1226 | N>S | 370 | N370S | ASN370SER |
| GM02528 | Fibroblast | 3 | A>G | 486-2 | | | exon 4 skipped | IVS3AS,A>G,-2 |
| GM02529 | Amniotic fluid-derived cell line | | del6,450 | | | | del ex1-ex7 | 6,450-BP DEL |
| GM02529 | Amniotic fluid-derived cell line | 3 | A>G | 486-2 | | | exon 4 skipped | IVS3AS,A>G,-2 |
| GM02533 | B-Lymphocyte | | del6,450 | | | | del ex1-ex7 | 6,450-BP DEL |
| GM02533 | B-Lymphocyte | 3 | A>G | 486-2 | | | exon 4 skipped | IVS3AS,A>G,-2 |
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