| 基因名 | 突变 |
|---|---|
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:649232C>T,c.2051G>A,p.R684Q |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:649164G>A,c.2119C>T,p.R707C |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:649067A>G,c.2216T>C,p.I739T |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:649037G>A,c.2246C>T,p.P749L |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:648664G>T,c.2619C>A,p.H873Q |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:648498C>T,c.2785G>A,p.D929N |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:648416G>A,c.2867C>T,p.A956V |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:648279A>G,c.3004T>C,p.Y1002H |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:648216T>G,c.3067A>C,p.S1023R |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:648215C>T,c.3068G>A,p.S1023N |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:648186G>A,c.3097C>T,p.R1033C |
| GEMIN4(NM_015721,gem (nuclear organelle) associated protein 4,1058aa) | g.17:648144G>A,c.3139C>T,p.R1047W |
| GEMIN2(NM_003616,gem (nuclear organelle) associated protein 2,280aa) | g.14:39597536A>G,c.617A>G,p.D206G |
| GEMIN2(NM_003616,gem (nuclear organelle) associated protein 2,280aa) | g.14:39597494C>A,c.575C>A,p.T192N |
| GEMIN2(NM_003616,gem (nuclear organelle) associated protein 2,280aa) | g.14:39587798A>T,c.400A>T,p.T134S |
| GEMIN2(NM_003616,gem (nuclear organelle) associated protein 2,280aa) | g.14:39583567G>A,c.58G>A,p.A20T |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90785060C>T,c.920C>T,p.T307I |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90785027C>T,c.887C>T,p.P296L |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90785018G>A,c.878G>A,p.R293Q |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784988A>G,c.848A>G,p.H283R |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784964G>A,c.824G>A,p.R275Q |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784961G>T,c.821G>T,p.C274F |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784930C>A,c.790C>A,p.P264T |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784862G>A,c.722G>A,p.G241E |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784778C>T,c.638C>T,p.S213L |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784744C>T,c.604C>T,p.R202C |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784639G>A,c.499G>A,p.V167M |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784632G>T,c.492G>T,p.W164C |