| 基因名 | 突变 |
|---|---|
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118486833G>A,c.262G>A,p.E88K |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118485295G>A,c.82G>A,p.E28K |
| PHLDA3(NM_012396,pleckstrin homology-like domain, family A, member 3,127aa) | g.1:201437832C>T,c.83G>A,p.R28Q |
| PHLDA3(NM_012396,pleckstrin homology-like domain, family A, member 3,127aa) | g.1:201437730T>C,c.185A>G,p.E62G |
| PHLDA3(NM_012396,pleckstrin homology-like domain, family A, member 3,127aa) | g.1:201437649del,c.266del,p.89fs |
| PHLDA2(NM_003311,pleckstrin homology-like domain, family A, member 2,152aa) | g.11:2950516T>G,c.79A>C,p.K27Q |
| PHLDA2(NM_003311,pleckstrin homology-like domain, family A, member 2,152aa) | g.11:2950287T>G,c.308A>C,p.N103T |
| PHLDA1(NM_007350,pleckstrin homology-like domain, family A, member 1,401aa) | g.12:76425476G>A,c.46C>T,p.P16S |
| PHLDA1(NM_007350,pleckstrin homology-like domain, family A, member 1,401aa) | g.12:76425209G>C,c.313C>G,p.R105G |
| PHLDA1(NM_007350,pleckstrin homology-like domain, family A, member 1,401aa) | g.12:76424938_76424940del,c.582_584del,p.194_195del |
| PHLDA1(NM_007350,pleckstrin homology-like domain, family A, member 1,401aa) | g.12:76424615C>T,c.907G>A,p.V303I |
| PHKG2(NM_000294,phosphorylase kinase, gamma 2 (testis),406aa) | g.16:30768272G>A,c.1075G>A,p.G359R |
| PHKG2(NM_000294,phosphorylase kinase, gamma 2 (testis),406aa) | g.16:30768183G>A,c.986G>A,p.R329Q |
| PHKG2(NM_000294,phosphorylase kinase, gamma 2 (testis),406aa) | g.16:30767797A>G,c.757A>G,p.S253G |
| PHKG2(NM_000294,phosphorylase kinase, gamma 2 (testis),406aa) | g.16:30767780A>G,c.740A>G,p.E247G |
| PHKG2(NM_000294,phosphorylase kinase, gamma 2 (testis),406aa) | g.16:30767746C>T,c.706C>T,p.R236W |
| PHKG2(NM_000294,phosphorylase kinase, gamma 2 (testis),406aa) | g.16:30762447G>A,c.116G>A,p.R39H |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56155414C>T,c.139G>A,p.A47T |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56155396C>T,c.157G>A,p.V53I |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56155390C>T,c.163G>A,p.G55S |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56155359C>T,c.194G>A,p.R65Q |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56150988G>A,c.626C>T,p.P209L |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56149919G>T,c.671C>A,p.A224D |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56149872C>T,c.718G>A,p.G240R |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56149680C>T,c.794G>A,p.R265Q |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56149351C>T,c.986G>A,p.R329Q |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56148943C>T,c.1064G>A,p.R355H |
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56148922C>T,c.1085G>A,p.R362Q |