| 基因名 | 突变 |
|---|---|
| IP6K2(NM_001190316,inositol hexakisphosphate kinase 2,185aa) | g.3:48732846G>A,c.44C>T,p.S15F |
| IP6K2(NM_001190316,inositol hexakisphosphate kinase 2,185aa) | g.3:48732816C>T,c.74G>A,p.R25Q |
| IP6K2(NM_001190316,inositol hexakisphosphate kinase 2,185aa) | g.3:48732733C>T,c.157G>A,p.A53T |
| IP6K2(NM_001190316,inositol hexakisphosphate kinase 2,185aa) | g.3:48732480T>C,c.410A>G,p.D137G |
| IP6K1(NM_001242829,inositol hexakisphosphate kinase 1,441aa) | g.3:49785409C>T,c.65G>A,p.R22Q |
| IP6K1(NM_001242829,inositol hexakisphosphate kinase 1,441aa) | g.3:49764614C>T,c.1267G>A,p.V423M |
| INVS(NM_014425,inversin,1065aa) | g.9:103062935del,c.3177del,p.1059fs |
| INVS(NM_014425,inversin,1065aa) | g.9:103059215C>T,c.2803C>T,p.H935Y |
| INVS(NM_014425,inversin,1065aa) | g.9:103055279C>T,c.2740C>T,p.R914C |
| INVS(NM_014425,inversin,1065aa) | g.9:103055234C>T,c.2695C>T,p.R899X |
| INVS(NM_014425,inversin,1065aa) | g.9:103054992C>T,c.2453C>T,p.A818V |
| INVS(NM_014425,inversin,1065aa) | g.9:103054941G>A,c.2402G>A,p.G801E |
| INVS(NM_014425,inversin,1065aa) | g.9:103054850G>A,c.2311G>A,p.D771N |
| INVS(NM_014425,inversin,1065aa) | g.9:103054817T>G,c.2278T>G,p.S760A |
| INVS(NM_014425,inversin,1065aa) | g.9:103046873A>G,c.2056A>G,p.R686G |
| INVS(NM_014425,inversin,1065aa) | g.9:103046765G>C,c.1948G>C,p.A650P |
| INVS(NM_014425,inversin,1065aa) | g.9:103046760A>G,c.1943A>G,p.N648S |
| INVS(NM_014425,inversin,1065aa) | g.9:103002466A>G,c.740A>G,p.N247S |
| INVS(NM_014425,inversin,1065aa) | g.9:103002451C>T,c.725C>T,p.S242L |
| INVS(NM_014425,inversin,1065aa) | g.9:102988356T>C,c.286T>C,p.F96L |
| INVS(NM_014425,inversin,1065aa) | g.9:102888676C>G,c.118C>G,p.L40V |
| INVS(NM_014425,inversin,1065aa) | g.9:102866870G>A,c.67G>A,p.V23I |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128628120T>C,c.2267T>C,p.L756P |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128628100A>C,c.2247A>C,p.L749F |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128628066G>A,c.2213G>A,p.R738Q |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128628054C>T,c.2201C>T,p.P734L |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128628045A>G,c.2192A>G,p.H731R |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128627927T>G,c.2074T>G,p.C692G |