| 基因名 | 突变 |
|---|---|
| GPATCH3(NM_022078,G patch domain containing 3,525aa) | g.1:27217670C>T,c.1409G>A,p.R470H |
| GPATCH2(NM_018040,G patch domain containing 2,528aa) | g.1:217793263_217793264insT,c.634_635insA,p.212fs |
| GPATCH2(NM_018040,G patch domain containing 2,528aa) | g.1:217784321G>T,c.928C>A,p.P310T |
| GPATCH2(NM_018040,G patch domain containing 2,528aa) | g.1:217784318T>C,c.931A>G,p.T311A |
| GPATCH2(NM_018040,G patch domain containing 2,528aa) | g.1:217783701T>C,c.1060A>G,p.K354E |
| GPATCH2(NM_018040,G patch domain containing 2,528aa) | g.1:217604654T>C,c.1420A>G,p.M474V |
| GPATCH2(NM_018040,G patch domain containing 2,528aa) | g.1:217604632G>A,c.1442C>T,p.T481M |
| GPATCH2(NM_018040,G patch domain containing 2,528aa) | g.1:217604522C>T,c.1552G>A,p.A518T |
| GPATCH2(NM_018040,G patch domain containing 2,528aa) | g.1:217604492C>T,c.1582G>A,p.A528T |
| GPATCH2L(NM_017926,G patch domain containing 2-like,482aa) | g.14:76644342C>T,c.1064C>T,p.A355V |
| GPATCH2L(NM_017926,G patch domain containing 2-like,482aa) | g.14:76638261A>G,c.803A>G,p.K268R |
| GPATCH2L(NM_017926,G patch domain containing 2-like,482aa) | g.14:76620980A>G,c.274A>G,p.M92V |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33617599G>A,c.2725G>A,p.E909K |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33617567A>C,c.2693A>C,p.E898A |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33616077C>T,c.2588C>T,p.A863V |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33616059A>C,c.2570A>C,p.N857T |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33605312T>C,c.2183T>C,p.L728S |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33605300A>G,c.2171A>G,p.H724R |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33604735C>T,c.1955C>T,p.T652M |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33604705G>A,c.1925G>A,p.R642H |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33603432T>C,c.1805T>C,p.M602T |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33603404G>T,c.1777G>T,p.D593Y |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33602641C>T,c.1597C>T,p.R533C |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33600764T>C,c.1427T>C,p.L476P |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33597772C>T,c.1252C>T,p.R418W |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33597725C>T,c.1205C>T,p.T402M |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33588770A>G,c.962A>G,p.Y321C |
| GPATCH1(NM_018025,G patch domain containing 1,931aa) | g.19:33588698A>T,c.890A>T,p.D297V |