| 基因名 | 突变 |
|---|---|
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51376670T>C,c.2120A>G,p.E707G |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51375596G>A,c.2255C>T,p.S752F |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51372238T>A,c.2416A>T,p.I806L |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51372172C>T,c.2482G>A,p.V828M |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25277150C>T,c.2524C>T,p.R842W |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25274809G>T,c.2193G>T,p.E731D |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25273216G>A,c.2144G>A,p.R715Q |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25271184A>G,c.1895A>G,p.N632S |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25269072G>C,c.1780G>C,p.D594H |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25263834C>G,c.1541C>G,p.T514S |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25263816T>C,c.1523T>C,p.I508T |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25262769G>A,c.1504G>A,p.D502N |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25261727C>T,c.1382C>T,p.S461L |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25261669A>G,c.1324A>G,p.M442V |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25261594G>A,c.1249G>A,p.A417T |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25260939A>G,c.1130A>G,p.N377S |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25259006G>T,c.907G>T,p.A303S |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25257375G>A,c.754G>A,p.D252N |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25255336G>A,c.637G>A,p.G213S |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25252112A>G,c.518A>G,p.N173S |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25249776C>G,c.357C>G,p.D119E |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25239909C>T,c.280C>T,p.R94C |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25228988C>G,c.174C>G,p.H58Q |
| PYGB(NM_002862,phosphorylase, glycogen; brain,843aa) | g.20:25228984C>G,c.170C>G,p.A57G |
| PYDC2(NM_001083308,pyrin domain containing 2,97aa) | g.3:191179193A>G,c.242A>G,p.Q81R |
| PYDC2(NM_001083308,pyrin domain containing 2,97aa) | g.3:191179177T>G,c.226T>G,p.F76V |
| PYCRL(NM_023078,pyrroline-5-carboxylate reductase-like,286aa) | g.8:144691742G>A,c.13C>T,p.R5C |
| PYCRL(NM_023078,pyrroline-5-carboxylate reductase-like,286aa) | g.8:144690264C>T,c.160G>A,p.A54T |