Samples with Characterized Mutations
|
| Records Return:
(11)
|
|
|
| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM07157 | B-Lymphocyte | | T>C | 608 | W>R | 162 (alt. 163) | W162R (alt. W163R) | TRP162ARG |
| GM09545 | B-Lymphocyte | | C>T | 643 | P>S | 215 | P215S | PRO215SER |
| GM09546 | Fibroblast | | C>T | 643 | P>S | 215 | P215S | PRO215SER |
| GM09547 | B-Lymphocyte | | C>T; G>C | 2850; 4180 | R>C; S>T | 296; 486 | R296C; S486T | ARG296CYS AND SER486THR |
| GM09548 | B-Lymphocyte | | C>T | 643 | P>S | 215 | P215S | PRO215SER |
| GM11005 | B-Lymphocyte | | | | | | | DUP |
| GM13433 | B-Lymphocyte | | C>T | 40 | P>L | 14 | P14L | PRO14LEU |
| GM13434 | B-Lymphocyte | | | | | | | PARTIAL DEL EX 3 AND 4 |
| GM13435 | B-Lymphocyte | | C>G | 381 | G>G | 127 | G127G | GLY127GLY |
| GM13436 | B-Lymphocyte | | C>T | 125 | T>I | 42 | T42I | THR42ILE |
| GM13437 | B-Lymphocyte | | C>A | 344 | T>K | 115 | T115K | THR115LYS |
|
|
|