| 基因名 | 突变 |
|---|---|
| EPB41L1(NM_001258329,erythrocyte membrane protein band 4.1-like 1,880aa) | g.20:34797455C>T,c.1714C>T,p.R572C |
| EPB41L1(NM_001258329,erythrocyte membrane protein band 4.1-like 1,880aa) | g.20:34785938A>G,c.1643A>G,p.K548R |
| EPB41L1(NM_001258329,erythrocyte membrane protein band 4.1-like 1,880aa) | g.20:34785935C>G,c.1640C>G,p.P547R |
| EPB41L1(NM_001258329,erythrocyte membrane protein band 4.1-like 1,880aa) | g.20:34765884G>A,c.353G>A,p.R118Q |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46611660G>A,c.2474G>A,p.R825Q |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46609629C>A,c.2353C>A,p.P785T |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46609572A>C,c.2296A>C,p.T766P |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46609196C>T,c.2255C>T,p.P752L |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46607774G>A,c.1963G>A,p.G655R |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46607645G>A,c.1834G>A,p.G612R |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46607635C>G,c.1824C>G,p.F608L |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46603764T>A,c.1121T>A,p.F374Y |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46603747G>A,c.1104G>A,p.M368I |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46597004T>G,c.818T>G,p.L273R |
| EPAS1(NM_001430,endothelial PAS domain protein 1,870aa) | g.2:46587788G>T,c.466G>T,p.G156W |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132562165A>G,c.9319A>G,p.M3107V |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132562126G>A,c.9280G>A,p.A3094T |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132554046G>A,c.8881G>A,p.A2961T |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132551493G>A,c.8728G>A,p.G2910S |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132549405G>A,c.8527G>A,p.V2843M |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132549334C>T,c.8456C>T,p.P2819L |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132549307A>C,c.8429A>C,p.Q2810P |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132549300A>G,c.8422A>G,p.T2808A |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132549264C>T,c.8386C>T,p.P2796S |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132549255C>T,c.8377C>T,p.P2793S |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132547166A>G,c.8254A>G,p.T2752A |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132547161C>T,c.8249C>T,p.T2750M |
| EP400(NM_015409,E1A binding protein p400,3123aa) | g.12:132547068_132547069insGCA,c.8156_8157insGCA,p.2719ins1aa |