Samples with Characterized Mutations
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(30)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM03223 | Fibroblast | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03224 | B-Lymphocyte | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03314 | Fibroblast | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03315 | B-Lymphocyte | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03900 | Fibroblast | | C>T | 646 | R>X | 216 | R216X | ARG216TER |
| GM03901 | Fibroblast | | C>T | 646 | R>X | 216 | R216X | ARG216TER |
| GM03942 | Fibroblast | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03943 | B-Lymphocyte | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03944 | Fibroblast | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03945 | B-Lymphocyte | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03946 | Fibroblast | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03947 | B-Lymphocyte | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03948 | Fibroblast | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03949 | B-Lymphocyte | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03950 | Fibroblast | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03951 | B-Lymphocyte | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03954 | Fibroblast | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM03955 | B-Lymphocyte | | C>T | 1621 | Q>X | 541 | Q541X | GLN541TER |
| GM06855 | Fibroblast | | delAG (delGA) | 4611_4612 (4612_4613) | P>X | 1537(1538) | P1542X | 2-BP DEL, CODON 1538 |
| GM06965 | Fibroblast | | delAG (delGA) | 4611_4612 (4612_4613) | P>X | 1537(1538) | P1542X | 2-BP DEL, CODON 1538 |
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