Samples with Characterized Mutations
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(31)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide Change | Nucleotide Number | Codon Change | Codon Number | Consequence | Mutation |
| GM14620 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14621 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14631 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14640 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14641 | B-Lymphocyte | | T>C | 20009404 | R>Q | 506 | R506Q | 20009404T>C |
| GM14641 | B-Lymphocyte | | C>G | 187 | H>D | 63 | H63D | c.187C>G (p.HIS63ASP) |
| GM14641 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14646 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14650 | B-Lymphocyte | | T>C | 20009404 | R>Q | 506 | R506Q | 20009404T>C |
| GM14650 | B-Lymphocyte | | C>G | 187 | H>D | 63 | H63D | c.187C>G (p.HIS63ASP) |
| GM14650 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14651 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14652 | B-Lymphocyte | | C>G | 187 | H>D | 63 | H63D | c.187C>G (p.HIS63ASP) |
| GM14652 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14654 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14655 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14657 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14685 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
| GM14686 | B-Lymphocyte | | C>G | 187 | H>D | 63 | H63D | c.187C>G (p.HIS63ASP) |
| GM14688 | B-Lymphocyte | | G>A | 845 | C>Y | 282 | C282Y | CYS282TYR |
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