Samples with Characterized Mutations
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| Records Return:
(18)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00113 | Fibroblast | | A>C | 174 | K>Q | 4 | K4Q | LYS4GLN |
| GM01494 | Fibroblast | | A>C | 174 | K>Q | 4 | K4Q | LYS4GLN |
| GM01494 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM01759 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM01759 | Fibroblast | | A>T | 733 | | D190 | D190fsX211 | 733A>T |
| GM02065 | Fibroblast | | delACTCA | 2215_2219 | | S685 | S685fsX745 | 5-BP DEL, 2215ACTCA |
| GM02065 | Fibroblast | 17 | T>G | IVS17+6 | | P1084 | P1084fsX1085 | IVS17DS,T>G,+6 |
| GM02425 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM02425 | Fibroblast | | A>T | 733 | | D190 | D190fsX211 | 733A>T |
| GM02558 | Fibroblast | | C>T | 996 | Q>X | 278 | Q278X | GLN278TER |
| GM02558 | Fibroblast | 17 | T>G | IVS17+6 | | P1084 | P1084fsX1085 | IVS17DS,T>G,+6 |
| GM02559 | Fibroblast | | C>T | 996 | Q>X | 278 | Q278X | GLN278TER |
| GM02559 | Fibroblast | 17 | T>G | IVS17+6 | | P1084 | P1084fsX1085 | IVS17DS,T>G,+6 |
| GM03685 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM03685 | Fibroblast | 17 | T>G | IVS17+6 | | P1084 | P1084fsX1085 | IVS17DS,T>G,+6 |
| GM07255 | Fibroblast | | A>C | 174 | K>Q | 4 | K4Q | LYS4GLN |
| GM07256 | Fibroblast | | delTC | 3665_3666 | | L1168 | L1168fsX1172 | 2-BP DEL, 3665TC |
| GM20136 | Fibroblast | | G>A | last nt in exon 7 | | | | G>A,EX7 |
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