| 基因名 | 突变 |
|---|---|
| EHD4(NM_139265,EH-domain containing 4,541aa) | g.15:42193121C>T,c.1348G>A,p.V450I |
| EHD4(NM_139265,EH-domain containing 4,541aa) | g.15:42193088T>A,c.1381A>T,p.I461F |
| EHD4(NM_139265,EH-domain containing 4,541aa) | g.15:42192923C>T,c.1546G>A,p.D516N |
| EHD3(NM_014600,EH-domain containing 3,535aa) | g.2:31489072G>C,c.1110G>C,p.K370N |
| EHD3(NM_014600,EH-domain containing 3,535aa) | g.2:31472283G>A,c.451G>A,p.V151I |
| EHD2(NM_014601,EH-domain containing 2,543aa) | g.19:48244642C>T,c.1585C>T,p.R529C |
| EHD2(NM_014601,EH-domain containing 2,543aa) | g.19:48244462G>A,c.1405G>A,p.G469S |
| EHD2(NM_014601,EH-domain containing 2,543aa) | g.19:48244447G>A,c.1390G>A,p.D464N |
| EHD2(NM_014601,EH-domain containing 2,543aa) | g.19:48244184C>T,c.1127C>T,p.P376L |
| EHD2(NM_014601,EH-domain containing 2,543aa) | g.19:48239695A>C,c.985A>C,p.K329Q |
| EHD2(NM_014601,EH-domain containing 2,543aa) | g.19:48229404C>T,c.838C>T,p.R280C |
| EHD2(NM_014601,EH-domain containing 2,543aa) | g.19:48229243C>T,c.677C>T,p.T226M |
| EHD2(NM_014601,EH-domain containing 2,543aa) | g.19:48220012C>T,c.143C>T,p.P48L |
| EHD2(NM_014601,EH-domain containing 2,543aa) | g.19:48219912C>T,c.43C>T,p.P15S |
| EHD1(NM_006795,EH-domain containing 1,534aa) | g.11:64622868C>T,c.1006G>A,p.G336R |
| EHD1(NM_006795,EH-domain containing 1,534aa) | g.11:64622843C>T,c.1031G>A,p.R344H |
| EHD1(NM_006795,EH-domain containing 1,534aa) | g.11:64622327T>G,c.1083A>C,p.E361D |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63220783A>C,c.3065A>C,p.Q1022P |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63220672C>T,c.2954C>T,p.T985I |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63176139A>C,c.2263A>C,p.K755Q |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63176050C>T,c.2174C>T,p.T725I |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63175852G>A,c.1976G>A,p.S659N |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63175645A>T,c.1769A>T,p.D590V |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63175539G>A,c.1663G>A,p.V555I |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63101587C>G,c.1210C>G,p.P404A |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63092036A>G,c.1033A>G,p.I345V |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63091973G>A,c.970G>A,p.D324N |
| EHBP1(NM_015252,EH domain binding protein 1,1231aa) | g.2:63058253G>T,c.594G>T,p.E198D |