Samples with Characterized Mutations
|
| Records Return:
(29)
|
|
|
|
| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM01492 | Fibroblast | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM02085 | Fibroblast | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM02520 | Fibroblast | | delC | 2923 | | | fs:974+23-X | 2923delC |
| GM02520 | Fibroblast | | | | | | del exon 15 (fs:941+26-X) | DEL EX15 |
| GM02548 | Fibroblast | | C>T | 2328 | Q>X | 752 | Q752X | GLN752TER |
| GM02548 | Fibroblast | | insA | 1544 | | | fs:514+1-X | 1544insA |
| GM02932 | Fibroblast | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM03402 | Fibroblast | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM03403 | B-Lymphocyte | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM03498 | Fibroblast | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM03498 | Fibroblast | | delT | 3233 | | | | 3233delT |
| GM03509 | Fibroblast | | C>A | 1784 | S>X | 595 | S595X | SER595TER |
| GM03510 | Fibroblast | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM04408 | B-Lymphocyte | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM04408 | B-Lymphocyte | | delT | 3233 | | | | 3233delT |
| GM05289 | Fibroblast | | insA | 1544 | | | fs:514+1-X | 1544insA |
| GM08505 | Fibroblast | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM09960 | B-Lymphocyte | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM16377 | B-Lymphocyte | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
| GM16859 | Fibroblast | | del6/ins7 | c.2281 | | 736 | stop codon at 2292 | 6-BP DEL/7-BP INS |
|
|
|