| 基因名 | 突变 |
|---|---|
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44088950C>T,c.1696G>A,p.V566I |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44037749G>A,c.1813C>T,p.R605C |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52357072T>G,c.1856T>G,p.I619S |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52357071A>C,c.1855A>C,p.I619L |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52355109A>C,c.1812A>C,p.E604D |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52343941T>C,c.1385T>C,p.I462T |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52343899T>C,c.1343T>C,p.M448T |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52329890C>T,c.1114C>T,p.R372W |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52329834G>A,c.1058G>A,p.R353Q |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52319085A>G,c.916A>G,p.K306E |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52319055C>T,c.886C>T,p.R296C |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52319050G>A,c.881G>A,p.R294H |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52318948G>A,c.779G>A,p.R260Q |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52318900G>A,c.731G>A,p.R244Q |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52317597T>C,c.685T>C,p.F229L |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52317573C>T,c.661C>T,p.R221C |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52317558C>T,c.646C>T,p.R216X |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52317555C>T,c.643C>T,p.L215F |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52303361G>A,c.545G>A,p.R182H |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52303291C>T,c.475C>T,p.R159W |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52303160A>G,c.344A>G,p.Y115C |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52288769C>T,c.89C>T,p.T30M |
| EFHC1(NM_018100,EF-hand domain (C-terminal) containing 1,640aa) | g.6:52285209A>G,c.1A>G,p.M1V |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19975378C>T,c.133G>A,p.E45K |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19975234T>C,c.277A>G,p.S93G |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19975215C>A,c.296G>T,p.G99V |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19974937C>T,c.574G>A,p.V192M |
| EFHB(NM_144715,EF-hand domain family, member B,833aa) | g.3:19962044G>A,c.805C>T,p.P269S |