Samples with Characterized Mutations
|
| Records Return:
(17)
|
|
|
| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM23417 | B-Lymphocyte | | G>C | 32854 | GTT>CTT | 10952 | VAL10952LEU | 32854 G>C |
| GM23417 | B-Lymphocyte | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
| GM24268 | B-Lymphocyte | | G>A | | GAG>AAG | 368 | E368K | GLU368LYS |
| GM24370 | B-Lymphocyte | | | | | | | c.1115T>C (p.Phe372Ser) |
| GM25936 | Fibroblast | | del1 | 35 | | 12 | fs13Ter | 1-BP DEL, 35G |
| GM25936 | Fibroblast | | T>C | | M>T | 34 | M34T | MET34THR |
| GM25936 | Fibroblast | | G>C | 32854 | GTT>CTT | 10952 | VAL10952LEU | 32854 G>C |
| GM25936 | Fibroblast | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
| GM25948 | B-Lymphocyte | | del1 | 35 | | 12 | fs13Ter | 1-BP DEL, 35G |
| GM25948 | B-Lymphocyte | | G>C | 32854 | GTT>CTT | 10952 | VAL10952LEU | 32854 G>C |
| GM25950 | Fibroblast | | | | | | | c.44998_45001del (p.N22897fs) |
| GM25950 | Fibroblast | | | | | | | c.106244delG (p.G32772fs) |
| GM25950 | Fibroblast | 52 | | | | | | c.15721+1G>A |
| GM25951 | B-Lymphocyte | | T>C | | M>T | 34 | M34T | MET34THR |
| GM25951 | B-Lymphocyte | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
| GM25993 | B-Lymphocyte | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
| GM27125 | B-Lymphocyte | 191 | G>A | 37112-1 | | | | 37112-1G>A (IVS191-1G>A) |
|
|
|