Samples with Characterized Mutations
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| Records Return:
(19)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00080 | Fibroblast | | delC | 1744 | | C528 | C528fsX546 | 1744delC |
| GM00081 | Fibroblast | | delA | 1012 | | T284 | T284fsX288 | 1012delA |
| GM01586 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM01589 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM01590 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM02013 | Fibroblast | | dupCTAC | 3395_3398 | | Y1079 | Y1079fsX1081 | 4-BP DUP, 3395CTAC |
| GM02013 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM02014 | Fibroblast | | dupCTAC | 3395_3398 | | Y1079 | Y1079fsX1081 | 4-BP DUP, 3395CTAC |
| GM02046 | Fibroblast | | delTinsAAA | 2352 | | L730 | L730fsX737 | 2352delTinsAAA |
| GM02047 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM02273 | Fibroblast | | C>T | 136 | R>X | 46 | R46X | ARG46TER |
| GM02273 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM02274 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM02660 | B-Lymphocyte | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM02687 | B-Lymphocyte | | tripTATA | 1902_1905 | | S581 | S581fsX588 | 4-BP TRIP, 1902TATA |
| GM03066 | Fibroblast | | delC | 1744 | | C528 | C528fsX546 | 1744delC |
| GM03066 | Fibroblast | | delA | 1012 | | T284 | T284fsX288 | 1012delA |
| GM03112 | Fibroblast | | delTinsAAA | 2352 | | L730 | L730fsX737 | 2352delTinsAAA |
| GM03112 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
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