| 基因名 | 突变 |
|---|---|
| POLA1(NM_016937,polymerase (DNA directed), alpha 1, catalytic subunit,1462aa) | g.X:24844604G>C,c.3604G>C,p.D1202H |
| POLA1(NM_016937,polymerase (DNA directed), alpha 1, catalytic subunit,1462aa) | g.X:24759542A>G,c.2249A>G,p.K750R |
| POLA1(NM_016937,polymerase (DNA directed), alpha 1, catalytic subunit,1462aa) | g.X:24759511T>C,c.2218T>C,p.Y740H |
| POLA1(NM_016937,polymerase (DNA directed), alpha 1, catalytic subunit,1462aa) | g.X:24757642A>G,c.2173A>G,p.M725V |
| POLA1(NM_016937,polymerase (DNA directed), alpha 1, catalytic subunit,1462aa) | g.X:24746000G>A,c.1615G>A,p.V539M |
| POLA1(NM_016937,polymerase (DNA directed), alpha 1, catalytic subunit,1462aa) | g.X:24742468C>T,c.1199C>T,p.T400M |
| POLA1(NM_016937,polymerase (DNA directed), alpha 1, catalytic subunit,1462aa) | g.X:24735520A>G,c.802A>G,p.M268V |
| POLA1(NM_016937,polymerase (DNA directed), alpha 1, catalytic subunit,1462aa) | g.X:24721384G>A,c.167G>A,p.G56D |
| POGZ(NM_015100,pogo transposable element with ZNF domain,1410aa) | g.1:151403296T>G,c.305A>C,p.Q102P |
| POGZ(NM_015100,pogo transposable element with ZNF domain,1410aa) | g.1:151397526T>C,c.1090A>G,p.I364V |
| POGZ(NM_015100,pogo transposable element with ZNF domain,1410aa) | g.1:151384132T>C,c.1895A>G,p.N632S |
| POGZ(NM_015100,pogo transposable element with ZNF domain,1410aa) | g.1:151377952G>A,c.3559C>T,p.P1187S |
| POGZ(NM_015100,pogo transposable element with ZNF domain,1410aa) | g.1:151377422A>C,c.4089T>G,p.H1363Q |
| POGLUT1(NM_152305,protein O-glucosyltransferase 1,392aa) | g.3:119211265A>T,c.1159A>T,p.M387L |
| POGLUT1(NM_152305,protein O-glucosyltransferase 1,392aa) | g.3:119211217T>C,c.1111T>C,p.S371P |
| POGLUT1(NM_152305,protein O-glucosyltransferase 1,392aa) | g.3:119204198A>G,c.602A>G,p.K201R |
| POGLUT1(NM_152305,protein O-glucosyltransferase 1,392aa) | g.3:119196201G>A,c.362G>A,p.R121H |
| POGK(NM_017542,pogo transposable element with KRAB domain,609aa) | g.1:166819585T>C,c.1769T>C,p.L590S |
| POGK(NM_017542,pogo transposable element with KRAB domain,609aa) | g.1:166818363G>C,c.547G>C,p.A183P |
| POGK(NM_017542,pogo transposable element with KRAB domain,609aa) | g.1:166816813A>C,c.342A>C,p.Q114H |
| POGK(NM_017542,pogo transposable element with KRAB domain,609aa) | g.1:166815888G>A,c.172G>A,p.D58N |
| POGK(NM_017542,pogo transposable element with KRAB domain,609aa) | g.1:166810278G>A,c.85G>A,p.G29S |
| POGK(NM_017542,pogo transposable element with KRAB domain,609aa) | g.1:166810264G>A,c.71G>A,p.R24Q |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46705795C>A,c.180G>T,p.R60S |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46705617T>C,c.358A>G,p.I120V |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46703410C>T,c.415G>A,p.V139I |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46702319C>T,c.583G>A,p.V195I |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46702264C>T,c.638G>A,p.R213Q |