| 基因名 | 突变 |
|---|---|
| PRPF39(NM_017922,PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae),669aa) | g.14:45579875A>G,c.1427A>G,p.H476R |
| PRPF39(NM_017922,PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae),669aa) | g.14:45579796T>A,c.1348T>A,p.C450S |
| PRPF39(NM_017922,PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae),669aa) | g.14:45579419G>C,c.1299G>C,p.Q433H |
| PRPF39(NM_017922,PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae),669aa) | g.14:45564466A>T,c.24A>T,p.E8D |
| PRPF38B(NM_018061,PRP38 pre-mRNA processing factor 38 (yeast) domain containing B,546aa) | g.1:109242622A>G,c.1621A>G,p.N541D |
| PRPF38B(NM_018061,PRP38 pre-mRNA processing factor 38 (yeast) domain containing B,546aa) | g.1:109242392A>G,c.1391A>G,p.K464R |
| PRPF38B(NM_018061,PRP38 pre-mRNA processing factor 38 (yeast) domain containing B,546aa) | g.1:109242232C>T,c.1231C>T,p.R411W |
| PRPF38B(NM_018061,PRP38 pre-mRNA processing factor 38 (yeast) domain containing B,546aa) | g.1:109242056G>A,c.1055G>A,p.R352K |
| PRPF38A(NM_032864,PRP38 pre-mRNA processing factor 38 (yeast) domain containing A,312aa) | g.1:52881047G>C,c.885G>C,p.K295N |
| PRPF31(NM_015629,pre-mRNA processing factor 31,499aa) | g.19:54627232G>A,c.632G>A,p.R211Q |
| PRPF19(NM_014502,pre-mRNA processing factor 19,504aa) | g.11:60670996T>C,c.181A>G,p.I61V |
| PRPF19(NM_014502,pre-mRNA processing factor 19,504aa) | g.11:60668786C>T,c.623G>A,p.R208Q |
| PRPF19(NM_014502,pre-mRNA processing factor 19,504aa) | g.11:60666340C>T,c.1048G>A,p.G350S |
| PRPF18(NM_003675,pre-mRNA processing factor 18,342aa) | g.10:13653615G>A,c.511G>A,p.A171T |
| PRPF18(NM_003675,pre-mRNA processing factor 18,342aa) | g.10:13642257A>G,c.158A>G,p.E53G |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113826163C>T,c.1013C>T,p.T338M |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113826100G>A,c.950G>A,p.R317H |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113826090C>T,c.940C>T,p.L314F |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113826078G>A,c.928G>A,p.A310T |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113825992A>T,c.842A>T,p.E281V |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113825985G>A,c.835G>A,p.A279T |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113825970C>T,c.820C>T,p.R274W |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113824745G>A,c.658G>A,p.E220K |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113818928G>T,c.541G>T,p.G181C |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113817412T>C,c.415T>C,p.Y139H |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113817332C>G,c.335C>G,p.P112R |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113817331C>G,c.334C>G,p.P112A |
| PROZ(NM_001256134,protein Z, vitamin K-dependent plasma glycoprotein,422aa) | g.13:113814442T>A,c.251T>A,p.I84N |