| 基因名 | 突变 |
|---|---|
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57467100G>C,c.1041G>C,p.X347Y |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57467093A>G,c.1034A>G,p.Y345C |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57467084A>G,c.1025A>G,p.D342G |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398270C>T,c.973C>T,p.Q325X |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398264A>G,c.967A>G,p.T323A |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398243A>G,c.946A>G,p.I316V |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398226T>G,c.929T>G,p.V310G |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398226T>A,c.929T>A,p.V310D |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398207G>T,c.910G>T,p.G304X |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398201T>C,c.904T>C,p.C302R |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398163A>G,c.866A>G,p.H289R |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398157A>G,c.860A>G,p.Y287C |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57398154T>C,c.857T>C,p.L286P |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57393144A>T,c.794A>T,p.Q265L |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57393125A>G,c.775A>G,p.S259G |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57246898G>A,c.625G>A,p.V209I |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57246884A>G,c.611A>G,p.D204G |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57244780G>A,c.541G>A,p.E181K |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57244745C>T,c.506C>T,p.S169L |
| PRIM1(NM_000946,primase, DNA, polypeptide 1 (49kDa),420aa) | g.12:57146069T>G,c.14A>C,p.D5A |
| PRIM1(NM_000946,primase, DNA, polypeptide 1 (49kDa),420aa) | g.12:57146013A>T,c.70T>A,p.S24T |
| PRIM1(NM_000946,primase, DNA, polypeptide 1 (49kDa),420aa) | g.12:57146012G>C,c.71C>G,p.S24C |
| PRIM1(NM_000946,primase, DNA, polypeptide 1 (49kDa),420aa) | g.12:57133108T>C,c.1022A>G,p.Q341R |
| PRIM1(NM_000946,primase, DNA, polypeptide 1 (49kDa),420aa) | g.12:57133082T>C,c.1048A>G,p.I350V |
| PRIM1(NM_000946,primase, DNA, polypeptide 1 (49kDa),420aa) | g.12:57132236C>T,c.1126G>A,p.V376I |
| PRICKLE4(NM_013397,prickle homolog 4 (Drosophila),384aa) | g.6:41754718G>A,c.1006G>A,p.D336N |
| PRICKLE4(NM_013397,prickle homolog 4 (Drosophila),384aa) | g.6:41754575_41754576insTCT,c.863_864insTCT,p.288ins1aa |
| PRICKLE4(NM_013397,prickle homolog 4 (Drosophila),384aa) | g.6:41754574_41754575insTTC,c.862_863insTTC,p.288ins1aa |