Samples with Characterized Mutations
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| Records Return:
(14)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM03021 | Fibroblast | | | | | | | c.1115_1118delGGAA (p.Arg372Thrfs*5) |
| GM03021 | Fibroblast | | | | | | | c.2573T>C (p.Leu858Pro) |
| GM03616 | Fibroblast | | | | | | | c.1494delA (p.Asp499Ilefs) |
| GM03616 | Fibroblast | | | | | | | c.2751delA (p.Lys917Asnfs) |
| GM13370 | Fibroblast | | C>T | 984 | R>X | 263 | R263X | ARG263TER |
| GM13370 | Fibroblast | | delA | 2170_2172 | | 659 | fs660Ter | 1-BP DEL, FS660TER |
| GM13371 | Fibroblast | | delA | 2170_2172 | | 659 | fs660Ter | 1-BP DEL, FS660TER |
| GM16023 | B-Lymphocyte | | C>T | 603 | Q>X | 136 | Q136X | GLN136TER |
| GM16180 | Fibroblast | | delTC | 1116 | L308fsX320 | 308 | | 1116delTC |
| GM16181 | Fibroblast | | C>T | 243 | Q>X | 16 | Q16X | GLN16TER |
| GM16181 | Fibroblast | | delTG | 2801 | V869fsX879 | 869 | | 2801delTG |
| GM16398 | Fibroblast | | G>A | 2817 | A>T | 874 | A874T | ALA874THR |
| GM16398 | Fibroblast | | C>T | 603 | Q>X | 136 | Q136X | GLN136TER |
| GM16464 | B-Lymphocyte | | G>A | 2817 | A>T | 874 | A874T | ALA874THR |
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