| 基因名 | 突变 |
|---|---|
| PPAN(NM_020230,peter pan homolog (Drosophila),473aa) | g.19:10221804G>T,c.1385G>T,p.G462V |
| PPAN(NM_020230,peter pan homolog (Drosophila),473aa) | g.19:10221768G>A,c.1349G>A,p.R450Q |
| PPA2(NM_176869,pyrophosphatase (inorganic) 2,334aa) | g.4:106395144T>C,c.64A>G,p.T22A |
| PPA2(NM_176869,pyrophosphatase (inorganic) 2,334aa) | g.4:106374784T>C,c.238A>G,p.M80V |
| PPA2(NM_176869,pyrophosphatase (inorganic) 2,334aa) | g.4:106359121C>T,c.514G>A,p.E172K |
| PPA2(NM_176869,pyrophosphatase (inorganic) 2,334aa) | g.4:106320250C>A,c.727G>T,p.V243L |
| PPA2(NM_176869,pyrophosphatase (inorganic) 2,334aa) | g.4:106317429C>G,c.846G>C,p.K282N |
| PPA2(NM_176869,pyrophosphatase (inorganic) 2,334aa) | g.4:106307762G>A,c.901C>T,p.R301C |
| PPA1(NM_021129,pyrophosphatase (inorganic) 1,289aa) | g.10:71990141G>T,c.79C>A,p.Q27K |
| PPA1(NM_021129,pyrophosphatase (inorganic) 1,289aa) | g.10:71990096C>T,c.123+1G>A,p.41Donor |
| PPA1(NM_021129,pyrophosphatase (inorganic) 1,289aa) | g.10:71968982G>A,c.704C>T,p.T235M |
| PPA1(NM_021129,pyrophosphatase (inorganic) 1,289aa) | g.10:71966066C>T,c.749G>A,p.S250N |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20043579C>G,c.33G>C,p.W11C |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20043502C>T,c.110G>A,p.R37H |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20043350G>C,c.262C>G,p.L88V |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20043007C>T,c.605G>A,p.C202Y |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20042834C>T,c.778G>A,p.A260T |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20042833G>C,c.779C>G,p.A260G |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20042806A>G,c.806T>C,p.I269T |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20027675C>T,c.1091-1G>A,p.364Acceptor |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20027536A>G,c.1229T>C,p.V410A |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20027251G>A,c.1514C>T,p.T505I |
| PP2D1(NM_001252657,protein phosphatase 2C-like domain containing 1,630aa) | g.3:20026915A>G,c.1850T>C,p.M617T |
| POU6F2(NM_007252,POU class 6 homeobox 2,691aa) | g.7:39504235A>C,c.2026A>C,p.T676P |
| POU6F2(NM_007252,POU class 6 homeobox 2,691aa) | g.7:39504124G>A,c.1915G>A,p.E639K |
| POU6F2(NM_007252,POU class 6 homeobox 2,691aa) | g.7:39500302C>T,c.1559C>T,p.S520L |
| POU6F2(NM_007252,POU class 6 homeobox 2,691aa) | g.7:39446247A>G,c.934A>G,p.M312V |
| POU6F2(NM_007252,POU class 6 homeobox 2,691aa) | g.7:39379589C>T,c.860C>T,p.P287L |