Samples with Characterized Mutations
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| Records Return:
(31)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM23309 | Fibroblast | | del2 | 2049_2050 | | | | 2049_2050delAG |
| GM23310 | Fibroblast | | C>T | 7732 | R>X | 2578 | R2578X | ARG2578TER |
| GM23311 | Fibroblast | | del2 | 2049_2050 | | | | 2049_2050delAG |
| GM23311 | Fibroblast | | C>T | 7732 | R>X | 2578 | R2578X | ARG2578TER |
| GM23327 | Fibroblast | | del1 | 47 | | | | 47delG |
| GM23327 | Fibroblast | | T>C | 2 | | | | 2T>C |
| GM23506 | B-Lymphocyte | | dup1 | 8669 | L>F | 2890 | Leu2890PhefsX16 | 8669dupT |
| GM23506 | B-Lymphocyte | | T>A | 2370 | P>P | 790 | P790P | 2370T>A |
| GM23507 | B-Lymphocyte | | C>A | 2901 | C>X | 967 | C967X | CYS967TER |
| GM23507 | B-Lymphocyte | 45 | G>T | 6429+1 | | | | 6429+1G>T |
| GM23670 | B-Lymphocyte | | | | | | | 7491delA |
| GM23670 | B-Lymphocyte | 58 | | | | | | 8244+3_+6delAAGT |
| GM23717 | Stem cell | | del2 | 2049_2050 | | | | 2049_2050delAG |
| GM23717 | Stem cell | | C>T | 7732 | R>X | 2578 | R2578X | ARG2578TER |
| GM24219 | Fibroblast | | | | | | | 939_940delAT |
| GM24219 | Fibroblast | | C>T | 3976 | | | | 3976C>T |
| GM24230 | Fibroblast | | | | | | | 7297C>T |
| GM24230 | Fibroblast | | T>G | | | | Leu12Arg | 35T>G |
| GM24249 | B-Lymphocyte | | | | | | | 7297C>T |
| GM24249 | B-Lymphocyte | | T>G | | | | Leu12Arg | 35T>G |
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