Samples with Characterized Mutations
|
| Records Return:
(27)
|
|
|
|
| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM23304 | B-Lymphocyte | | A>G | 5314 | R>G | 1772 | R1772G | ARG1772GLY |
| GM23316 | B-Lymphocyte | | c.6295_6351dup57 | | | | p.Ser2099_Val2117dup | c.6295_6351dup57 |
| GM23650 | Fibroblast | | | | | | | 7463_7475del13 |
| GM23650 | Fibroblast | | C>T | 1201 | R>C | 401 | R401C | ARG401CYS |
| GM23781 | B-Lymphocyte | | C>A | 11763 | | 3921 | Y3921* | c.11763 C>A |
| GM24356 | B-Lymphocyte | | | 4534 | | | | LYS4534del |
| GM26118 | B-Lymphocyte | | | | | | | ARG975TRP |
| GM26119 | B-Lymphocyte | | | | | | | ARG975TRP |
| GM26120 | B-Lymphocyte | | | | | | | ARG975TRP |
| GM26121 | B-Lymphocyte | | C>T | 14126 | | | p.Thr4709Met | C.14126C>T p.(Thr4709Met) |
| GM26123 | B-Lymphocyte | | C>T | 14126 | | | p.Thr4709Met | C.14126C>T p.(Thr4709Met) |
| GM26127 | B-Lymphocyte | | | | | | | exon99_106dup |
| GM26127 | B-Lymphocyte | 47 | | | | | | c.7615-3T>A |
| GM26128 | B-Lymphocyte | 47 | | | | | | c.7615-3T>A |
| GM26129 | B-Lymphocyte | | | | | | | exon99_106dup |
| GM26135 | B-Lymphocyte | | A>C | 13724 | Asn4575Thr | 4575 | p.Asn4575Thr | c.13724A>C |
| GM26136 | B-Lymphocyte | | A>C | 13724 | Asn4575Thr | 4575 | p.Asn4575Thr | c.13724A>C |
| GM26137 | B-Lymphocyte | | A>C | 13724 | Asn4575Thr | 4575 | p.Asn4575Thr | c.13724A>C |
| GM26153 | B-Lymphocyte | | A>C | 11600 | | | p.Lys3867Thr | Lys3867Thr |
| GM26153 | B-Lymphocyte | | C>T | 511 | | | p.Arg171Trp | ARG171TRP |
|
|
|