变换信息
| Gene网路 | 坐标表(GRCH37) | 坐标表(GRCH38) | 核极 | 蛋白质 | 传译 |
|---|---|---|---|---|---|
| RUNX1 | Chr21:36171597 | Chr21:34799300 | C.967+1->TSA | exon8 | 致病性 |
| RUNX1 | Chr21:36259172 | Chr21:34886875 | 319C>T | P.R107C | 致病性 |
| RUNX1 | Chr21:36252877 | Chr21:34880580 | 485G>A | p.ARG162Lys | 致病性 |
| RUNX1 | Chr21:36252866 | Chr21:34880569 | C.496C>T | 166* | 致病性 |
| RUNX1 | Chr21:36252865 | Chr21:34880568 | 497G>A | 166Q | 致病性 |
| RUNX1 | Chr21:36231783 | Chr21:34859486 | C.601C>T | P.R201* | 致病性 |
| RUNX1 | Chr21:36231782 | Chr21:34859485 | C.602G>A | P.R201Q | 致病性 |
| RUNX1 | Chr21:36231774 | Chr21:34859477 | 610C>T | p.R204* | 致病性 |
| RUNX1 | Chr21:36171607 | Chr21:34799310 | C.958C>T | P.R320* | 致病性 |
Germline变量生成baybet必威体育ASH与ClinGen协作解决 myeloid恶意问题显示如下:
- Germline变换RUNX1