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 |
| GM05002 | Fibroblast | | G>A | c.344 | C>Y | 115 | C115Y | CYS115TYR |
| GM05002 | Fibroblast | | C>T | c.743 | P>L | 248 | P248L | PRO248LEU |
| GM10650 | Fibroblast | 2 | T>C | c.127 (IVS2+48) | | | | IVS2+48T>C |
| GM10652 | Fibroblast | | T>C | c.572 | M>T | 191 | M191T | MET191THR |
| GM10653 | Fibroblast | | T>C | c.572 | M>T | 191 | M191T | MET191THR |
| GM10653 | Fibroblast | 2 | T>C | c.127 (IVS2+48) | | | | IVS2+48T>C |
| GM12029 | Fibroblast | | C>T | 1204 | R>W | 402 | R402W | ARG402TRP |
| GM16392 | Fibroblast | | C>T | 805 (c.769) | R>W | 257 | R257W | ARG257TRP |
| GM16393 | Fibroblast | | G>A | 1234 (c.1198) | V>M | 400 | V400M | VAL400MET |
| GM16393 | Fibroblast | | G>C | 716 (c.680) | R>P | 227 | R227P | ARG227PRO |
| GM16394 | Fibroblast | | C>T | 1204 | R>W | 402 | R402W | ARG402TRP |
| GM16394 | Fibroblast | | C>A | 298 (c.262) | R>S | 88 | R88S | ARG88SER |
| GM16395 | Fibroblast | | C>T | 805 (c.769) | R>W | 257 | R257W | ARG257TRP |
| GM16395 | Fibroblast | | G>A | c.881 | R>Q | 294 | R294Q | ARG294GLN |
| GM16396 | Fibroblast | | A>G | c.221 | Y>C | 74 | Y74C | TYR74CYS |
| GM16396 | Fibroblast | | delC | c.198 | | | | 198delC |
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