| 基因名 | 突变 |
|---|---|
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64527364G>A,c.7C>T,p.R3W |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64527223G>A,c.148C>T,p.R50X |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64527159G>A,c.212C>T,p.T71M |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64525266C>T,c.645G>A,p.K215K |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64525251C>T,c.660G>A,p.Q220Q |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64522964G>A,c.727C>T,p.R243C |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64522939T>C,c.752A>G,p.N251S |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64522752T>C,c.848A>G,p.N283S |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64521406G>A,c.1184C>T,p.T395M |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64519958T>C,c.1537A>G,p.I513V |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64519937G>A,c.1558C>T,p.R520C |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64519543C>A,c.1621G>T,p.E541X |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64519456G>A,c.1708C>T,p.R570W |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64518016G>A,c.2009C>T,p.A670V |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64514718T>C,c.2290A>G,p.N764D |
| PYGM(NM_005609,phosphorylase, glycogen, muscle,842aa) | g.11:64514214G>A,c.2446C>T,p.R816C |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51404516T>C,c.283A>G,p.T95A |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51390736T>C,c.611A>G,p.Y204C |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51387782C>T,c.664G>A,p.V222I |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51387755C>T,c.691G>A,p.V231M |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51387748C>T,c.698G>A,p.G233D |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51387742A>G,c.704T>C,p.M235T |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51382637G>A,c.1145C>T,p.P382L |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51382586C>T,c.1196G>A,p.R399Q |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51378591T>C,c.1828-2A>G,p.610Acceptor |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51378591del,c.1828-2del,p.610Acceptordel |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51378589del,c.1828del,p.610fs |
| PYGL(NM_002863,phosphorylase, glycogen, liver,847aa) | g.14:51378517C>G,c.1900G>C,p.D634H |