Samples with Characterized Mutations
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| Records Return:
(21)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM23304 | B-Lymphocyte | | A>G | 5314 | R>G | 1772 | R1772G | ARG1772GLY |
| GM23316 | B-Lymphocyte | | c.6295_6351dup57 | | | | p.Ser2099_Val2117dup | c.6295_6351dup57 |
| GM23650 | Fibroblast | | | | | | | 7463_7475del13 |
| GM23650 | Fibroblast | | C>T | 1201 | R>C | 401 | R401C | ARG401CYS |
| GM23781 | B-Lymphocyte | | C>A | 11763 | | 3921 | Y3921* | c.11763 C>A |
| GM24356 | B-Lymphocyte | | | 4534 | | | | LYS4534del |
| GM26118 | B-Lymphocyte | | | | | | | ARG975TRP |
| GM26119 | B-Lymphocyte | | | | | | | ARG975TRP |
| GM26120 | B-Lymphocyte | | | | | | | ARG975TRP |
| GM26135 | B-Lymphocyte | | A>C | 13724 | Asn4575Thr | 4575 | p.Asn4575Thr | c.13724A>C |
| GM26136 | B-Lymphocyte | | A>C | 13724 | Asn4575Thr | 4575 | p.Asn4575Thr | c.13724A>C |
| GM26137 | B-Lymphocyte | | A>C | 13724 | Asn4575Thr | 4575 | p.Asn4575Thr | c.13724A>C |
| GM26153 | B-Lymphocyte | | A>C | 11600 | | | p.Lys3867Thr | Lys3867Thr |
| GM26153 | B-Lymphocyte | | C>T | 511 | | | p.Arg171Trp | ARG171TRP |
| GM26155 | B-Lymphocyte | | G>A | 14582 | | | p.Arg4861His | Arg4861His |
| GM26155 | B-Lymphocyte | | duplication | 13331_13351 | | | p.Gly4444-Gly4450dup | Gly4444-Gly4450dup |
| GM26158 | B-Lymphocyte | | G>A | 14582 | | | p.Arg4861His | Arg4861His |
| GM26159 | B-Lymphocyte | | G>A | 14582 | | | p.Arg4861His | Arg4861His |
| GM26186 | B-Lymphocyte | | c.14693T>C | 14693 | ATT>ACT | 4898 | p.I4898T | ILE4898THR |
| GM26199 | B-Lymphocyte | | c.14693T>C | 14693 | ATT>ACT | 4898 | p.I4898T | ILE4898THR |
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