| 基因名 | 突变 |
|---|---|
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99032781C>T,c.85G>A,p.A29T |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99032559G>A,c.307C>T,p.R103C |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99032529G>A,c.337C>T,p.R113W |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99032517G>A,c.349C>T,p.R117W |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99030992C>T,c.503G>A,p.R168Q |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99030941C>T,c.554G>A,p.R185Q |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99030926T>C,c.569A>G,p.K190R |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99026740G>A,c.901C>T,p.R301W |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99022945C>A,c.1210G>T,p.A404S |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99022933C>T,c.1222G>A,p.G408S |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99022873C>T,c.1282G>A,p.A428T |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99022641G>A,c.1514C>T,p.S505F |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99017694C>T,c.1999G>A,p.A667T |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99017660C>T,c.2033G>A,p.R678Q |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99017631C>T,c.2062G>A,p.G688S |
| PTCD1(NM_015545,pentatricopeptide repeat domain 1,700aa) | g.7:99017613C>T,c.2080G>A,p.G694R |
| PTBP3(NM_001244898,polypyrimidine tract binding protein 3,558aa) | g.9:115038264G>A,c.166C>T,p.R56X |
| PTBP3(NM_001244898,polypyrimidine tract binding protein 3,558aa) | g.9:115024842T>G,c.491A>C,p.Q164P |
| PTBP3(NM_001244898,polypyrimidine tract binding protein 3,558aa) | g.9:115024779C>A,c.554G>T,p.S185I |
| PTBP3(NM_001244898,polypyrimidine tract binding protein 3,558aa) | g.9:114994474T>C,c.1027A>G,p.I343V |
| PTBP3(NM_001244898,polypyrimidine tract binding protein 3,558aa) | g.9:114989862C>T,c.1295G>A,p.R432H |
| PTBP3(NM_001244898,polypyrimidine tract binding protein 3,558aa) | g.9:114989781T>C,c.1376A>G,p.N459S |
| PTBP3(NM_001244898,polypyrimidine tract binding protein 3,558aa) | g.9:114986453T>C,c.1504A>G,p.I502V |
| PTBP2(NM_021190,polypyrimidine tract binding protein 2,531aa) | g.1:97236339C>T,c.364C>T,p.R122C |
| PTBP1(NM_002819,polypyrimidine tract binding protein 1,557aa) | g.19:804613G>A,c.517G>A,p.A173T |
| PTBP1(NM_002819,polypyrimidine tract binding protein 1,557aa) | g.19:804080G>A,c.160G>A,p.A54T |
| PTAR1(NM_001099666,protein prenyltransferase alpha subunit repeat containing 1,402aa) | g.9:72365864T>C,c.89A>G,p.D30G |
| PTAR1(NM_001099666,protein prenyltransferase alpha subunit repeat containing 1,402aa) | g.9:72356723G>A,c.308C>T,p.T103I |