变换信息
| Gene网路 | 坐标表(GRCH37) | 坐标表(GRCH38) | 核极 | 蛋白质 | 传译 |
|---|---|---|---|---|---|
| ASXL1 | Chr20:3101211 | Chr20:32433408 | 1210C>T | P.ARG404Ter | 致病性 |
| ASXL1 | Chr20:31021250 | Chr20:32433447 | 1249C>T | P.R417* | 致病性 |
| ASXL1 | Chr20:31022286 | Chr20:32434483 | 1772dup | y591* | 致病性 |
| ASXL1 | Chr20:3102288 | Chr20:32434485 | 1773C>A | y591* | 致病性 |
| ASXL1 | Chr20:31022402 | Chr20:32434599 | c.1900_1922delAGAGAGGCGGCCACCACTGCCAT | P.E635Rfs*15 | 致病性 |
| ASXL1 | Chr20:31022440 | Chr20:32434637 | C.1926del | P.G645Vfs*58 | 致病性 |
| ASXL1 | Chr20:31022441 | Chr20:32434638 | 公元1934 | P.G645Vfs*58 | 致病性 |
| ASXL1 | Chr20:31022592 | Chr20:32434789 | 2077C>T | P.R693* | 致病性 |
| ASXL1 | Chr20:31022598 | Chr20:32434795 | c.2085_2086insAA | 696Nfs*8 | 致病性 |
| ASXL1 | Chr20:31022614 | Chr20:32434811 | c.2100_2121delTCCTCTAAATGGGGAGCATACC | P.701Rfs*17 | 致病性 |
| ASXL1 | Chr20:3102280 | Chr20:32434997 | C.2286delG | 762Fs*10 | 致病性 |
| ASXL1 | Chr20:31022824 | Chr20:32435021 | 2309C>G | P.S.770* | 致病性 |
| ASXL1 | Chr20:31022839 | Chr20:32435036 | 2324T>G | p.L.775* | 致病性 |
| ASXL1 | Chr20:31022847 | Chr20:32435044 | 2332C>T | Q778* | 致病性 |
| ASXL1 | Chr20:31022853 | 20:324350 | 2338C>T | Q780* | 致病性 |
| ASXL1 | Chr20:31022922 | Chr20:32435119 | 2407C>T | P.Q803* | 致病性 |
| ASXL1 | Chr20:31022936 | Chr20:32435133 | 2423del | P808Lfs*10 | 致病性 |
| ASXL1 | Chr20:31022983 | Chr20:32435180 | 2468T>A | 823* | 致病性 |
| ASXL1 | Chr20:31023000 | Chr20:32435197 | 2485C>T | 829* | 致病性 |
| ASXL1 | Chr20:31023159 | Chr20:32435356 | 2644C>T | Q882* | 致病性 |
| ASXL1 | Chr20:31023288 | Chr20:32435485 | 2773C>T | Q925* | 致病性 |
| ASXL1 | Chr20:31023408 | Chr20:32435605 | C.2893C>T | 965* | 致病性 |