Samples with Characterized Mutations
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| Records Return:
(13)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00877 | Fibroblast | | T>C | 1448 | L>P | 483 | L483P | LEU483PRO (LEU444PRO), 1448T>C |
| GM00877 | Fibroblast | | T>C,G>C,G>C | 1448,1482,1497 | L>P,A>P,V>V | 444,456,460 | L444P,A456P,V460V | LEU444PRO; ALA456PRO; VAL460VAL |
| GM00878 | Fibroblast | | T>C,G>C,G>C | 1448,1482,1497 | L>P,A>P,V>V | 444,456,460 | L444P,A456P,V460V | LEU444PRO; ALA456PRO; VAL460VAL |
| GM01260 | Fibroblast | | T>C | 1448 | L>P | 483 | L483P | LEU483PRO (LEU444PRO), 1448T>C |
| GM01260 | Fibroblast | | C>G | 1361 | P>R | 415 | P415R | PRO415ARG, 5976C>G |
| GM02627 | Fibroblast | | G>A | 1090 | G>R | 325 | G325R | GLY325ARG |
| GM02627 | Fibroblast | | T>G | 1141 | C>G | 342 | C342G | CYS342GLY |
| GM08752 | B-Lymphocyte | | T>C | 1448 | L>P | 483 | L483P | LEU483PRO (LEU444PRO), 1448T>C |
| GM08753 | B-Lymphocyte | | T>C | 1448 | L>P | 483 | L483P | LEU483PRO (LEU444PRO), 1448T>C |
| GM08760 | Fibroblast | | T>C | 1448 | L>P | 483 | L483P | LEU483PRO (LEU444PRO), 1448T>C |
| GM20270 | Fibroblast | | T>C | 1448 | L>P | 483 | L483P | LEU483PRO (LEU444PRO), 1448T>C |
| GM20270 | Fibroblast | 2 | G>A | IVS2+1 | | | | IVS2DS, G>A, +1 |
| GM20273 | Fibroblast | | | | | | crossover between GBA and pseudogene | RECOMBINANT (EXON 9) |
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