| 基因名 | 突变 |
|---|---|
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296424_153296425insT,c.854_855insA,p.285fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296374G>C,c.905C>G,p.P302R |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296373del,c.906del,p.302fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296363G>A,c.916C>T,p.R306C |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296354G>A,c.925C>T,p.R309W |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296283G>A,c.996C>T,p.S332S |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296207C>T,c.1072G>A,p.A358T |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296153G>A,c.1126C>T,p.P376S |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296090C>T,c.1189G>A,p.E397K |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296045C>T,c.1234G>A,p.V412I |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153295964C>T,c.1315G>A,p.A439T |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153295949C>T,c.1330G>A,p.A444T |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153295906C>T,c.1373G>A,p.R458H |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153295841G>A,c.1438C>T,p.P480S |
| MECOM(NM_001164000,MDS1 and EVI1 complex locus,1042aa) | g.3:168840462T>C,c.320A>G,p.Q107R |
| MECOM(NM_001164000,MDS1 and EVI1 complex locus,1042aa) | g.3:168834158T>C,c.938A>G,p.H313R |
| MECOM(NM_001164000,MDS1 and EVI1 complex locus,1042aa) | g.3:168833357C>T,c.1739G>A,p.S580N |
| MECOM(NM_001164000,MDS1 and EVI1 complex locus,1042aa) | g.3:168833318C>T,c.1778G>A,p.S593N |
| MECOM(NM_001164000,MDS1 and EVI1 complex locus,1042aa) | g.3:168830581G>T,c.2007C>A,p.H669Q |
| MECOM(NM_001164000,MDS1 and EVI1 complex locus,1042aa) | g.3:168820008C>T,c.2020G>A,p.A674T |
| MECOM(NM_001164000,MDS1 and EVI1 complex locus,1042aa) | g.3:168819985_168819986insT,c.2042_2043insA,p.681fs |
| MECOM(NM_001164000,MDS1 and EVI1 complex locus,1042aa) | g.3:168806792G>A,c.2990C>T,p.S997L |
| MECOM(NM_001164000,MDS1 and EVI1 complex locus,1042aa) | g.3:168802737G>A,c.3089C>T,p.A1030V |
| MEA1(NM_014623,male-enhanced antigen 1,185aa) | g.6:42981051C>G,c.105G>C,p.E35D |
| MEA1(NM_014623,male-enhanced antigen 1,185aa) | g.6:42980987C>T,c.169G>A,p.E57K |
| MEA1(NM_014623,male-enhanced antigen 1,185aa) | g.6:42980709_42980711del,c.359_361del,p.120_121del |
| MEA1(NM_014623,male-enhanced antigen 1,185aa) | g.6:42980288G>A,c.478C>T,p.R160W |
| MEA1(NM_014623,male-enhanced antigen 1,185aa) | g.6:42980218G>T,c.548C>A,p.A183D |