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 |
| GM00008 | Fibroblast | | DEL5, 257 | 1 | | | deleted exons 1-10 | 57-KB DEL |
| GM00046 | Fibroblast | | DEL5, 257 | 1 | | | deleted exons 1-10 | 57-KB DEL |
| GM00046 | Fibroblast | | del5 | 545 | I>R | 69 | I69R stop at 73 | 5-BP DEL, NT545 |
| GM00706 | Fibroblast | | DEL5, 257 | 1 | | | deleted exons 1-10 | 57-KB DEL |
| GM00760 | Fibroblast | | G>A | 414 | TGG>TGA | 753 | W138* | TRP138TER |
| GM00760 | Fibroblast | | DEL5, 257 | 1 | | | deleted exons 1-10 | 57-KB DEL |
| GM00908 | Fibroblast | | T>C | 473 | | | L158P | LEU158PRO |
| GM00908 | Fibroblast | | DEL5, 257 | 1 | | | deleted exons 1-10 | 57-KB DEL |
| GM00909 | Fibroblast | | DEL5, 257 | 1 | | | deleted exons 1-10 | 57-KB DEL |
| GM00910 | Fibroblast | | T>C | 473 | | | L158P | LEU158PRO |
| GM02066 | Fibroblast | | G>A | 1015 | G>R | 339 | GLY339ARG | c.1015G>A |
| GM02066 | Fibroblast | | G>A | 225+5 | | | PRO48LEUfs*7 | c.225+5G>A |
| GM02894 | Fibroblast | | DEL5, 257 | 1 | | | deleted exons 1-10 | 57-KB DEL |
| GM17885 | Fibroblast | | DEL5, 257 | 1 | | | deleted exons 1-10 | 57-KB DEL |
| GM17885 | Fibroblast | | G>A | 1261 | G>R | 308 | G308R | 1261G>A |
| GM17886 | Fibroblast | | del4 | 357 | T>X | 7 | T7Xfs | DEL357GACT or 4-BP DEL, 18GACT |
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