| 基因名 | 突变 |
|---|---|
| PHKG1(NM_001258459,phosphorylase kinase, gamma 1 (muscle),419aa) | g.7:56148915G>C,c.1092C>G,p.I364M |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47732476C>T,c.3100C>T,p.R1034W |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47727384A>G,c.2840A>G,p.N947S |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47722995G>A,c.2653G>A,p.G885R |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47697618A>G,c.2288A>G,p.Y763C |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47697593G>A,c.2263G>A,p.V755I |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47694729A>G,c.2174A>G,p.N725S |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47684830C>A,c.1948C>A,p.Q650K |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47683077A>C,c.1738A>C,p.M580L |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47682466A>G,c.1610A>G,p.N537S |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47674986T>C,c.1478T>C,p.I493T |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47630386G>A,c.1286G>A,p.R429H |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47627463T>C,c.1100T>C,p.I367T |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47622940G>A,c.974G>A,p.R325H |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47622837C>T,c.871C>T,p.P291S |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47549473G>T,c.534G>T,p.M178I |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47549436A>G,c.497A>G,p.N166S |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47545670A>G,c.479A>G,p.Y160C |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47545661A>G,c.470A>G,p.Y157C |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47536996G>A,c.379G>A,p.D127N |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47536987C>T,c.370C>T,p.R124C |
| PHKB(NM_001031835,phosphorylase kinase, beta,1086aa) | g.16:47497874G>A,c.25G>A,p.V9I |
| PHKA2(NM_000292,phosphorylase kinase, alpha 2 (liver),1235aa) | g.X:18972497C>G,c.112G>C,p.E38Q |
| PHKA2(NM_000292,phosphorylase kinase, alpha 2 (liver),1235aa) | g.X:18942577C>T,c.1636G>A,p.E546K |
| PHKA2(NM_000292,phosphorylase kinase, alpha 2 (liver),1235aa) | g.X:18938161G>T,c.1952C>A,p.T651N |
| PHKA2(NM_000292,phosphorylase kinase, alpha 2 (liver),1235aa) | g.X:18936859T>C,c.2077A>G,p.I693V |
| PHKA2(NM_000292,phosphorylase kinase, alpha 2 (liver),1235aa) | g.X:18929070T>C,c.2146A>G,p.M716V |
| PHKA2(NM_000292,phosphorylase kinase, alpha 2 (liver),1235aa) | g.X:18917323C>T,c.3079G>A,p.A1027T |