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 |
| GM00372 | Fibroblast | | insG | 84 | | | L-12Xfs | 1-BP INS, 84G |
| GM00372 | Fibroblast | | A>G | 1226 | N>S | 370 | N370S | ASN370SER |
| GM00852 | Fibroblast | | insG | 84 | | | L-12Xfs | 1-BP INS, 84G |
| GM00852 | Fibroblast | | A>G | 1226 | N>S | 370 | N370S | ASN370SER |
| GM01607 | Fibroblast | | A>G | 1226 | N>S | 370 | N370S | ASN370SER |
| GM01607 | Fibroblast | | G>T | 1297 | V>L | 394 | V394L | VAL394LEU, 1297G>T |
| GM04394 | Fibroblast | | T>C | 1448 | L>P | 483 | L483P | LEU483PRO (LEU444PRO), 1448T>C |
| GM07968 | Fibroblast | | T>C | 1448 | L>P | 483 | L483P | LEU483PRO (LEU444PRO), 1448T>C |
| GM10870 | B-Lymphocyte | | A>G | 1226 | N>S | 370 | N370S | ASN370SER |
| GM10871 | B-Lymphocyte | | A>G | 1226 | N>S | 370 | N370S | ASN370SER |
| GM10873 | B-Lymphocyte | | A>G | 1226 | N>S | 370 | N370S | ASN370SER |
| GM10874 | B-Lymphocyte | | G>A | 476 | R>Q | 120 | R120Q | ARG119GLN, 3060G>A |
| GM10874 | B-Lymphocyte | | A>G | 1226 | N>S | 370 | N370S | ASN370SER |
| GM10915 | Fibroblast | | T>C | 1448 | L>P | 483 | L483P | LEU483PRO (LEU444PRO), 1448T>C |
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