| 基因名 | 突变 |
|---|---|
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82581490_82581491insATC,c.8778_8779insGAT,p.2926_2927ins1aa |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82581488_82581489insTCA,c.8780_8781insTGA,p.2927ins1aa |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82581254A>C,c.9015T>G,p.F3005L |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82580536G>A,c.9368C>T,p.T3123M |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82580429T>C,c.9475A>G,p.I3159V |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82580374G>A,c.9530C>T,p.T3177M |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82580313A>T,c.9591T>A,p.D3197E |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82580293A>T,c.9611T>A,p.V3204D |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82579610C>T,c.10294G>A,p.D3432N |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82546183C>T,c.11119G>A,p.G3707S |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82545755A>T,c.11547T>A,p.S3849R |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82544838T>C,c.12464A>G,p.Y4155C |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82544502A>G,c.12800T>C,p.L4267S |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82544089T>C,c.13213A>G,p.M4405V |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82508724C>T,c.13583G>A,p.G4528E |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82475912T>C,c.13802A>G,p.H4601R |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82467547G>T,c.14209C>A,p.L4737I |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82453708A>C,c.14440T>G,p.S4814A |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82451900T>C,c.14702A>G,p.K4901R |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82435065C>T,c.14872G>A,p.V4958M |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82390084T>C,c.15159A>G,p.I5053M |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82390077T>A,c.15166A>T,p.M5056L |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82387895T>C,c.15425A>G,p.H5142R |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24573045C>T,c.1795C>T,p.P599S |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24573006G>A,c.1756G>A,p.G586S |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24572932G>A,c.1682G>A,p.R561Q |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24572929G>A,c.1679G>A,p.R560Q |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24572812G>A,c.1562G>A,p.R521H |