| 基因名 | 突变 |
|---|---|
| MBD3L3(NM_001164425,methyl-CpG binding domain protein 3-like 3,208aa) | g.19:7056553C>T,c.407G>A,p.R136H |
| MBD3L2(NM_144614,methyl-CpG binding domain protein 3-like 2,208aa) | g.19:7051608G>A,c.602G>A,p.R201Q |
| MBD3L1(NM_145208,methyl-CpG binding domain protein 3-like 1,194aa) | g.19:8953922C>T,c.568C>T,p.R190C |
| MBD3L1(NM_145208,methyl-CpG binding domain protein 3-like 1,194aa) | g.19:8953632T>A,c.278T>A,p.L93X |
| MBD3L1(NM_145208,methyl-CpG binding domain protein 3-like 1,194aa) | g.19:8953520G>C,c.166G>C,p.E56Q |
| MBD3L1(NM_145208,methyl-CpG binding domain protein 3-like 1,194aa) | g.19:8953516_8953517insTGGGAGGAGAGC,c.162_163insTGGGAGGAGAGC,p.54_55ins4aa |
| MBD3L1(NM_145208,methyl-CpG binding domain protein 3-like 1,194aa) | g.19:8953383G>C,c.29G>C,p.R10P |
| MBD1(NM_015846,methyl-CpG binding domain protein 1,605aa) | g.18:47803301C>T,c.293G>A,p.R98H |
| MBD1(NM_015846,methyl-CpG binding domain protein 1,605aa) | g.18:47802329G>A,c.539C>T,p.A180V |
| MBD1(NM_015846,methyl-CpG binding domain protein 1,605aa) | g.18:47801382C>T,c.943G>A,p.E315K |
| MBD1(NM_015846,methyl-CpG binding domain protein 1,605aa) | g.18:47800179G>C,c.1201C>G,p.P401A |
| MB21D2(NM_178496,Mab-21 domain containing 2,491aa) | g.3:192635598G>A,c.32C>T,p.A11V |
| MB21D2(NM_178496,Mab-21 domain containing 2,491aa) | g.3:192635425T>G,c.205A>C,p.M69L |
| MB21D2(NM_178496,Mab-21 domain containing 2,491aa) | g.3:192517421T>C,c.230A>G,p.D77G |
| MB21D2(NM_178496,Mab-21 domain containing 2,491aa) | g.3:192516329T>A,c.1322A>T,p.Q441L |
| MB21D2(NM_178496,Mab-21 domain containing 2,491aa) | g.3:192516321C>T,c.1330G>A,p.G444R |
| MB21D2(NM_178496,Mab-21 domain containing 2,491aa) | g.3:192516315C>G,c.1336G>C,p.D446H |
| MB21D2(NM_178496,Mab-21 domain containing 2,491aa) | g.3:192516279_192516280insT,c.1371_1372insA,p.457fs |
| MB21D1(NM_138441,Mab-21 domain containing 1,522aa) | g.6:74161801G>T,c.104C>A,p.T35N |
| MB21D1(NM_138441,Mab-21 domain containing 1,522aa) | g.6:74161762G>T,c.143C>A,p.A48E |
| MB21D1(NM_138441,Mab-21 domain containing 1,522aa) | g.6:74161604C>T,c.301G>A,p.G101R |
| MB21D1(NM_138441,Mab-21 domain containing 1,522aa) | g.6:74155412A>G,c.716T>C,p.L239P |
| MB21D1(NM_138441,Mab-21 domain containing 1,522aa) | g.6:74155346G>T,c.782C>A,p.P261H |
| MB21D1(NM_138441,Mab-21 domain containing 1,522aa) | g.6:74150030C>T,c.1016G>A,p.R339H |
| MAX(NM_145113,MYC associated factor X,103aa) | g.14:65569033C>A,c.25G>T,p.V9L |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3846753G>C,c.1582G>C,p.V528L |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3846666C>T,c.1495C>T,p.R499W |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3846397C>T,c.1226C>T,p.S409F |