变换信息
| Gene网路 | 坐标表(GRCH37) | 坐标表(GRCH38) | 核极 | 蛋白质 | 传译 |
|---|---|---|---|---|---|
| CBL | Chr11:119148891 | Chr11:1192781 | 1111T>A | y371n | 致病性 |
| CBL | Chr11:119148919 | Chr11:119278209 | 1139T>C | P.L380P | 致病性 |
| CBL | Chr11:119148928 | Chr11:119278218 | 1148T>A | P.I383K | 致病性 |
| CBL | Chr11:119148949 | Chr11:119278239 | 1169A>T | P.D390V | 致病性 |
| CBL | Chr11:119149236 | Chr11:119278526 | 1244G>T | P.G415V | 致病性 |
| CBL | Chr11:119149238 | Chr11:119278528 | c.1247_1267delGTCCTTTCTGCCGATGTGAAA | P.C416_E422del | 致病性 |
| CBL | Chr11:119149250 | Chr11:119278540 | 1258C>G | P.R420G | 致病性 |