| 基因名 | 突变 |
|---|---|
| PAPD4(NM_001114394,PAP associated domain containing 4,484aa) | g.5:78981043A>C,c.1402A>C,p.K468Q |
| PAPD4(NM_001114394,PAP associated domain containing 4,484aa) | g.5:78919248C>T,c.401C>T,p.P134L |
| PAPD4(NM_001114394,PAP associated domain containing 4,484aa) | g.5:78919157A>G,c.310A>G,p.N104D |
| PAPD4(NM_001114394,PAP associated domain containing 4,484aa) | g.5:78915497G>A,c.26G>A,p.R9H |
| PAOX(NM_152911,polyamine oxidase (exo-N4-amino),511aa) | g.10:135204906C>T,c.1483C>T,p.R495C |
| PAOX(NM_152911,polyamine oxidase (exo-N4-amino),511aa) | g.10:135203236C>G,c.1377C>G,p.D459E |
| PAOX(NM_152911,polyamine oxidase (exo-N4-amino),511aa) | g.10:135197680G>A,c.1085G>A,p.R362Q |
| PAOX(NM_152911,polyamine oxidase (exo-N4-amino),511aa) | g.10:135197650C>T,c.1055C>T,p.A352V |
| PAOX(NM_152911,polyamine oxidase (exo-N4-amino),511aa) | g.10:135195148G>A,c.853G>A,p.V285I |
| PAOX(NM_152911,polyamine oxidase (exo-N4-amino),511aa) | g.10:135195005C>T,c.710C>T,p.P237L |
| PAOX(NM_152911,polyamine oxidase (exo-N4-amino),511aa) | g.10:135193559G>A,c.238G>A,p.V80I |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124489781C>T,c.1129C>T,p.P377S |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124489545A>G,c.893A>G,p.D298G |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124489274A>G,c.622A>G,p.T208A |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124487338C>T,c.493C>T,p.R165W |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124487291A>C,c.446A>C,p.K149T |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124487281G>A,c.436G>A,p.E146K |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124482977G>C,c.283G>C,p.G95R |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124482918G>A,c.224G>A,p.R75Q |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124482903G>C,c.209G>C,p.S70T |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124481626_124481628del,c.174_176del,p.58_59del |
| PANX3(NM_052959,pannexin 3,392aa) | g.11:124481601T>A,c.149T>A,p.M50K |
| PANX2(NM_052839,pannexin 2,677aa) | g.22:50617594G>A,c.1922G>A,p.G641D |
| PANX2(NM_052839,pannexin 2,677aa) | g.22:50616322C>T,c.1181C>T,p.T394I |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93914006C>T,c.1252C>T,p.R418X |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93913418T>C,c.1196T>C,p.L399P |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93913409C>T,c.1187C>T,p.T396M |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93913392G>T,c.1170G>T,p.E390D |