| 基因名 | 突变 |
|---|---|
| EOMES(NM_001278182,eomesodermin,705aa) | g.3:27763770G>C,c.16C>G,p.Q6E |
| EOMES(NM_001278182,eomesodermin,705aa) | g.3:27763427G>C,c.359C>G,p.A120G |
| EOMES(NM_001278182,eomesodermin,705aa) | g.3:27763427_27763428insCGGCGC,c.358_359insGCGCCG,p.120ins2aa |
| EOMES(NM_001278182,eomesodermin,705aa) | g.3:27763427_27763428insCGC,c.358_359insGCG,p.120ins1aa |
| EOMES(NM_001278182,eomesodermin,705aa) | g.3:27763405_27763406insGCG,c.380_381insCGC,p.127ins1aa |
| EOMES(NM_001278182,eomesodermin,705aa) | g.3:27759289C>T,c.1390G>A,p.A464T |
| EOMES(NM_001278182,eomesodermin,705aa) | g.3:27759216C>T,c.1463G>A,p.R488Q |
| EOMES(NM_001278182,eomesodermin,705aa) | g.3:27758730T>C,c.1949A>G,p.N650S |
| EOGT(NM_001278689,EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase,527aa) | g.3:69058927G>C,c.71C>G,p.P24R |
| EOGT(NM_001278689,EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase,527aa) | g.3:69056869C>T,c.415G>A,p.E139K |
| EOGT(NM_001278689,EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase,527aa) | g.3:69036634G>A,c.1114C>T,p.R372W |
| EOGT(NM_001278689,EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase,527aa) | g.3:69031963T>C,c.1213A>G,p.R405G |
| EOGT(NM_001278689,EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase,527aa) | g.3:69026778A>C,c.1575T>G,p.D525E |
| ENTPD8(NM_001033113,ectonucleoside triphosphate diphosphohydrolase 8,495aa) | g.9:140332724C>T,c.14G>A,p.R5Q |
| ENTPD8(NM_001033113,ectonucleoside triphosphate diphosphohydrolase 8,495aa) | g.9:140332478A>G,c.185T>C,p.L62P |
| ENTPD8(NM_001033113,ectonucleoside triphosphate diphosphohydrolase 8,495aa) | g.9:140331479G>A,c.397C>T,p.R133W |
| ENTPD8(NM_001033113,ectonucleoside triphosphate diphosphohydrolase 8,495aa) | g.9:140331374C>T,c.502G>A,p.E168K |
| ENTPD8(NM_001033113,ectonucleoside triphosphate diphosphohydrolase 8,495aa) | g.9:140331113C>T,c.646G>A,p.V216M |
| ENTPD8(NM_001033113,ectonucleoside triphosphate diphosphohydrolase 8,495aa) | g.9:140330497C>T,c.1018G>A,p.V340I |
| ENTPD8(NM_001033113,ectonucleoside triphosphate diphosphohydrolase 8,495aa) | g.9:140330209C>T,c.1123G>A,p.A375T |
| ENTPD8(NM_001033113,ectonucleoside triphosphate diphosphohydrolase 8,495aa) | g.9:140329691C>A,c.1261G>T,p.E421X |
| ENTPD8(NM_001033113,ectonucleoside triphosphate diphosphohydrolase 8,495aa) | g.9:140329670C>T,c.1282G>A,p.E428K |
| ENTPD7(NM_020354,ectonucleoside triphosphate diphosphohydrolase 7,604aa) | g.10:101462388C>T,c.1541C>T,p.T514M |
| ENTPD7(NM_020354,ectonucleoside triphosphate diphosphohydrolase 7,604aa) | g.10:101451259T>C,c.827T>C,p.V276A |
| ENTPD7(NM_020354,ectonucleoside triphosphate diphosphohydrolase 7,604aa) | g.10:101421324A>G,c.130A>G,p.M44V |
| ENTPD7(NM_020354,ectonucleoside triphosphate diphosphohydrolase 7,604aa) | g.10:101421279G>A,c.85G>A,p.V29M |
| ENTPD6(NM_001247,ectonucleoside triphosphate diphosphohydrolase 6 (putative),484aa) | g.20:25203612T>C,c.1184T>C,p.I395T |
| ENTPD6(NM_001247,ectonucleoside triphosphate diphosphohydrolase 6 (putative),484aa) | g.20:25199235G>A,c.928G>A,p.V310M |