Samples with Characterized Mutations
|
| Records Return:
(21)
|
|
|
|
| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00435 | Fibroblast | | C>T | 2047 | R>W | 683 | R683W | ARG683TRP |
| GM00436 | Fibroblast | | C>G | 1411 | L>V | 461 | L461V | LEU461VAL |
| GM00436 | Fibroblast | | del45 | 2224_2268 | | 716 | Deletion of AA 716-730 | 45 bp deletion (c.2224-2268) |
| GM00436 | Fibroblast | | G>A | 217 | G>R | 47 | G47R | GLY47ARG |
| GM03248 | Fibroblast | | G>A | 1805 | G>D | 602 | G602D | GLY602ASP |
| GM03249 | B-Lymphocyte | | G>A | 1805 | G>D | 602 | G602D | GLY602ASP |
| GM03615 | Fibroblast | | C>T | 2047 | R>W | 683 | R683W | ARG683TRP |
| GM08207 | Fibroblast | | C>T | 2047 | R>W | 683 | R683W | ARG683TRP |
| GM08207 | Fibroblast | | del78 | 106_183 | | 36_61 | Deletion of AA 36-61 | 78 bp deletion (106-183) |
| GM10428 | Fibroblast | | C>T | 2047 | R>W | 683 | R683W | ARG683TRP |
| GM10428 | Fibroblast | | G>A | 2041 | | | | ASP681ASN |
| GM10430 | Fibroblast | | C>T | 2047 | R>W | 683 | R683W | ARG683TRP |
| GM10430 | Fibroblast | | del78 | 106_183 | | 36_61 | Deletion of AA 36-61 | 78 bp deletion (106-183) |
| GM11613 | Fibroblast | | C>T | 1354 | | | | GLN452TER |
| GM11613 | Fibroblast | | C>T | 2047 | R>W | 683 | R683W | ARG683TRP |
| GM16955 | Fibroblast | | | | | | 8-base insertion in cDNA, c.594-595ins CCCCCCAG | c.595-10G>A, p.I199Pfs*52 |
| GM16955 | Fibroblast | | C>T | 2047 | R>W | 683 | R683W | ARG683TRP |
| GM16957 | Fibroblast | | | | | | 8-base insertion in cDNA, c.594-595ins CCCCCCAG | c.595-10G>A, p.I199Pfs*52 |
| GM16957 | Fibroblast | | C>T | 2047 | R>W | 683 | R683W | ARG683TRP |
| GM17424 | Fibroblast | | C>T | 2050 | R>C | 658 | R658C | ARG658CYS |
|
|
|