Samples with Characterized Mutations
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(10)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00629 | Fibroblast | | C>G | 209 | S>W | 66 | S66W | SER66TRP |
| GM00643 | Fibroblast | | delC | 1091 | | | | 1-BP DEL, 1091C |
| GM00879 | Fibroblast | | G>A | 1351 | E>K | 447 | E447K | GLU447LYS |
| GM00879 | Fibroblast | | G>A | 746 | R>H | 245 | R245H | ARG245HIS |
| GM01094 | Fibroblast | | del9 | 1307 | | | | 9-BP DEL, NT1307 |
| GM01881 | Fibroblast | | | | V>M | 131 | V131M | VAL131MET |
| GM01881 | Fibroblast | | C>G | 209 | S>W | 66 | S66W | SER66TRP |
| GM06110 | Fibroblast | | G>A | 746 | R>H | 245 | R245H | ARG245HIS |
| GM27162 | Stem cell | | G>A | 746 | R>H | 245 | R245H | ARG245HIS |
| GM29817 | Stem cell | | G>A | 746 | R>H | 245 | R245H | ARG245HIS |
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