| 基因名 | 突变 |
|---|---|
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139326282G>A,c.1543C>T,p.R515W |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139325467G>A,c.1652C>T,p.T551M |
| INPP5E(NM_019892,inositol polyphosphate-5-phosphatase, 72 kDa,644aa) | g.9:139324801G>C,c.1730C>G,p.P577R |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38411444C>T,c.136G>A,p.G46S |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38409489G>A,c.229C>T,p.R77W |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38409317A>T,c.275T>A,p.I92N |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38406456C>A,c.295G>T,p.V99F |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38397630_38397631insA,c.486_487insT,p.162fs |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38357078A>G,c.581T>C,p.M194T |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38338795A>G,c.1994T>C,p.M665T |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38338663T>G,c.2126A>C,p.H709P |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38330043G>A,c.2567C>T,p.A856V |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38330035G>A,c.2575C>T,p.R859X |
| INPP5B(NM_005540,inositol polyphosphate-5-phosphatase, 75kDa,913aa) | g.1:38329999C>G,c.2611G>C,p.D871H |
| INPP5A(NM_005539,inositol polyphosphate-5-phosphatase, 40kDa,412aa) | g.10:134523914G>A,c.601G>A,p.V201M |
| INPP5A(NM_005539,inositol polyphosphate-5-phosphatase, 40kDa,412aa) | g.10:134459388A>G,c.134A>G,p.K45R |
| INPP4B(NM_003866,inositol polyphosphate-4-phosphatase, type II, 105kDa,924aa) | g.4:143352340C>T,c.73G>A,p.G25R |
| INPP4B(NM_003866,inositol polyphosphate-4-phosphatase, type II, 105kDa,924aa) | g.4:143130076T>C,c.940A>G,p.I314V |
| INPP4B(NM_003866,inositol polyphosphate-4-phosphatase, type II, 105kDa,924aa) | g.4:143094942T>G,c.1202A>C,p.Y401S |
| INPP4B(NM_003866,inositol polyphosphate-4-phosphatase, type II, 105kDa,924aa) | g.4:143067053C>T,c.1660G>A,p.G554S |
| INPP4B(NM_003866,inositol polyphosphate-4-phosphatase, type II, 105kDa,924aa) | g.4:143045853A>G,c.1781T>C,p.V594A |
| INPP4B(NM_003866,inositol polyphosphate-4-phosphatase, type II, 105kDa,924aa) | g.4:143043366C>T,c.2050G>A,p.V684I |
| INPP4B(NM_003866,inositol polyphosphate-4-phosphatase, type II, 105kDa,924aa) | g.4:143007401G>A,c.2383C>T,p.H795Y |
| INPP4A(NM_001134224,inositol polyphosphate-4-phosphatase, type I, 107kDa,977aa) | g.2:99185068G>A,c.2470G>A,p.V824M |
| INPP4A(NM_001134224,inositol polyphosphate-4-phosphatase, type I, 107kDa,977aa) | g.2:99172244A>G,c.1810A>G,p.T604A |
| INPP4A(NM_001134224,inositol polyphosphate-4-phosphatase, type I, 107kDa,977aa) | g.2:99172121T>C,c.1687T>C,p.F563L |
| INPP4A(NM_001134224,inositol polyphosphate-4-phosphatase, type I, 107kDa,977aa) | g.2:99172078_99172092del,c.1644_1658del,p.548_553del |
| INPP4A(NM_001134224,inositol polyphosphate-4-phosphatase, type I, 107kDa,977aa) | g.2:99170912G>A,c.1541G>A,p.S514N |