Samples with Characterized Mutations
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| Records Return:
(16)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00006 | Fibroblast | | G>A | 1223 | R>Q | 408 | R408Q | ARG408GLN |
| GM00006 | Fibroblast | | C>T | 842 | P>L | 281 | P281L | PRO281LEU |
| GM00937 | Fibroblast | | C>G | 117 | F>L | 39 | F39L | PHE39LEU |
| GM00937 | Fibroblast | 10 | G>A | IVS10-11 | | | | IVS10-11G>A |
| GM01565 | B-Lymphocyte | | C>T | 356 | T>I | 67 | T67I | THR67ILE |
| GM01565 | B-Lymphocyte | | G>A | 755 | R>Q | 252 | R252Q | ARG252GLN |
| GM01565 | B-Lymphocyte | 12 | G>A | 1315+1 | | | | IVS12DS, G>A, +1 (c.1315+1 G>A) |
| GM02406 | Fibroblast | | C>T | 1222 | R>W | 408 | R408W | ARG408TRP |
| GM02406 | Fibroblast | | T>G | 896 | F>C | 299 | F299C | PHE299CYS |
| GM02659 | B-Lymphocyte | | C>T | 526 | R>X | 176 | R176X | ARG176TER |
| GM11110 | B-Lymphocyte | | A>G | 1241 | Y>C | 414 | TYR414CYS | TYR414CYS (c. 1241A>G) |
| GM11110 | B-Lymphocyte | 12 | G>A | 1315+1 | | | | IVS12DS, G>A, +1 (c.1315+1 G>A) |
| GM11195 | B-Lymphocyte | | del23 | 590_612 | | | | 23-BP DEL, NT590 (c.590_612del23) |
| GM11195 | B-Lymphocyte | 8 | G>A | IVS8+1 | | | | IVS8+1G>A (c.912+1G>A) |
| GM27578 | Stem cell | | C>T | 1222 | R>W | 408 | R408W | ARG408TRP |
| GM27578 | Stem cell | | T>G | 896 | F>C | 299 | F299C | PHE299CYS |
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