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 |
| GM00863 | Fibroblast | | | | | | | Ex4 c.290C>G |
| GM00863 | Fibroblast | | | | | | | Ex4 c.353G>A |
| GM02109 | Fibroblast | | | | | | | Ex3 c.193C>T |
| GM02109 | Fibroblast | | | | | | | Ex4 c.256C>T |
| GM03111 | Fibroblast | | | | | | | Ex10 c.967_968delAG |
| GM03111 | Fibroblast | | | | | | | Ex8 c.894G>A(spl) |
| GM03557 | Fibroblast | | | | | | | Ex4 c.256C>T |
| GM03558 | Fibroblast | | | | | | | Ex3 c.193C>T |
| GM06122 | Fibroblast | | | | | | | Ex7 c.796G>T |
| GM06123 | Fibroblast | | | | | | | Ex6 c.594dupT |
| GM06144 | Fibroblast | | | | | | | Ex6 c.594dupT |
| GM06144 | Fibroblast | | | | | | | Ex7 c.796G>T |
| GM27446 | Stem cell | | | | | | | Ex6 c.594dupT |
| GM27446 | Stem cell | | | | | | | Ex7 c.796G>T |
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