| 基因名 | 突变 |
|---|---|
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28380655G>T,c.1683G>T,p.R561S |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28378221G>A,c.1286G>A,p.R429Q |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28378202A>G,c.1267A>G,p.M423V |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28378141_28378142insT,c.1206_1207insT,p.402fs |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28378137T>G,c.1202T>G,p.V401G |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28361389T>G,c.1186T>G,p.C396G |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28320335C>A,c.920C>A,p.S307X |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28320302G>A,c.887G>A,p.W296X |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28320248T>A,c.833T>A,p.I278K |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28296327T>G,c.709T>G,p.L237V |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28296269T>G,c.651T>G,p.Y217X |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28296201_28296203del,c.583_585del,p.195del |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28268857G>A,c.42+1G>A,p.14Donor |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28268817G>A,c.3G>A,p.M1I |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3806147T>C,c.19A>G,p.R7G |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3806145_3806147del,c.19_21del,p.7del |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3789452C>T,c.292G>A,p.A98T |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3788222G>A,c.383C>T,p.A128V |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3788198T>G,c.407A>C,p.H136P |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3788145C>T,c.460G>A,p.E154K |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3782647A>T,c.636T>A,p.H212Q |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3782630A>T,c.653T>A,p.L218Q |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3768803T>G,c.689A>C,p.D230A |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3765493G>T,c.842C>A,p.T281N |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3763469G>T,c.955C>A,p.L319M |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3747496G>A,c.1396C>T,p.R466W |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3747472C>T,c.1420G>A,p.V474I |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3728522C>T,c.1949G>A,p.R650Q |