Samples with Characterized Mutations
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| Records Return:
(6)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM06813 | Fibroblast | | delT;C>A | 646;648 | | | | 646delT |
| GM10680 | B-Lymphocyte | | | | D>N;D>N | 431;433 | D431N;D433N | ASP431ASN;ASP433ASN |
| GM23984 | B-Lymphocyte | | T>C | | | | | IVS2-14T>C |
| GM23984 | B-Lymphocyte | | | | | | | c.1088_1089delAA |
| GM24346 | Fibroblast | | | | | | | IVS11AS, A-G, -10 |
| GM24509 | Fibroblast | | G>C | | | | p.D394H | c.1180G>C; p.D394H |
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