| 基因名 | 突变 |
|---|---|
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31530073C>T,c.1585C>T,p.L529F |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31529993C>T,c.1505C>T,p.A502V |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31524578C>T,c.1027C>T,p.R343C |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31524488C>T,c.937C>T,p.R313C |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31524249G>A,c.845G>A,p.G282E |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31523368G>A,c.533G>A,p.R178H |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31522450G>A,c.256G>A,p.D86N |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31519044G>A,c.44G>A,p.R15Q |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121587063_121587065del,c.3170_3172del,p.1057_1058del |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121587043G>C,c.3150G>C,p.E1050D |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121586882A>G,c.2989A>G,p.N997D |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121586555G>A,c.2662G>A,p.V888I |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121586520C>T,c.2627C>T,p.A876V |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121586520C>G,c.2627C>G,p.A876G |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121586448C>T,c.2555C>T,p.S852F |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121586423C>G,c.2530C>G,p.Q844E |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121567473A>C,c.1470A>C,p.E490D |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121565909A>G,c.1357A>G,p.I453V |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121556976T>C,c.872T>C,p.M291T |
| INPP5F(NM_014937,inositol polyphosphate-5-phosphatase F,1132aa) | g.10:121556259G>A,c.702G>A,p.M234I |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139333568C>A,c.304G>T,p.D102Y |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139333269G>C,c.603C>G,p.I201M |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139329253C>T,c.875G>A,p.R292H |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139328547C>T,c.976G>A,p.E326K |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139327495C>T,c.1192G>A,p.V398M |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139327014C>T,c.1304G>A,p.R435Q |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139326368C>T,c.1457G>A,p.R486H |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139326324C>G,c.1501G>C,p.V501L |