Samples with Characterized Mutations
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Records Return:
(9)
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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 |
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