| 基因名 | 突变 |
|---|---|
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3728463G>A,c.2008C>T,p.R670W |
| EFCAB4B(NM_001144958,EF-hand calcium binding domain 4B,731aa) | g.12:3724583T>C,c.2134A>G,p.T712A |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:830670G>T,c.743G>T,p.S248I |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:830120A>G,c.593A>G,p.Q198R |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:830044G>A,c.517G>A,p.G173S |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:829539A>G,c.457A>G,p.K153E |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:828939G>A,c.253G>A,p.A85T |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:828916G>A,c.230G>A,p.R77Q |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:828886A>T,c.200A>T,p.Q67L |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:828864G>A,c.178G>A,p.D60N |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:828635G>A,c.28G>A,p.D10N |
| EFCAB4A(NM_173584,EF-hand calcium binding domain 4A,294aa) | g.11:827713A>T,c.-379+2A>T,p.5'UTRDonor |
| EFCAB3(NM_001144933,EF-hand calcium binding domain 3,490aa) | g.17:60493593A>G,c.1376A>G,p.H459R |
| EFCAB3(NM_001144933,EF-hand calcium binding domain 3,490aa) | g.17:60493386A>G,c.1169A>G,p.Y390C |
| EFCAB3(NM_001144933,EF-hand calcium binding domain 3,490aa) | g.17:60469326C>T,c.451C>T,p.R151X |
| EFCAB3(NM_001144933,EF-hand calcium binding domain 3,490aa) | g.17:60469287C>G,c.412C>G,p.H138D |
| EFCAB3(NM_001144933,EF-hand calcium binding domain 3,490aa) | g.17:60464729T>C,c.259T>C,p.C87R |
| EFCAB3(NM_001144933,EF-hand calcium binding domain 3,490aa) | g.17:60464702G>A,c.232G>A,p.D78N |
| EFCAB3(NM_001144933,EF-hand calcium binding domain 3,490aa) | g.17:60451185G>C,c.45G>C,p.K15N |
| EFCAB2(NM_001143943,EF-hand calcium binding domain 2,133aa) | g.1:245285240G>A,c.392G>A,p.R131H |
| EFCAB2(NM_001143943,EF-hand calcium binding domain 2,133aa) | g.1:245285231C>T,c.383C>T,p.S128L |
| EFCAB2(NM_001143943,EF-hand calcium binding domain 2,133aa) | g.1:245133746G>A,c.25+1G>A,p.9Donor |
| EFCAB1(NM_001142857,EF-hand calcium binding domain 1,159aa) | g.8:49643198G>A,c.64C>T,p.R22X |
| EFCAB1(NM_001142857,EF-hand calcium binding domain 1,159aa) | g.8:49642398C>T,c.196G>A,p.G66R |
| EFCAB14(NM_014774,EF-hand calcium binding domain 14,495aa) | g.1:47182101C>T,c.200G>A,p.R67Q |
| EFCAB14(NM_014774,EF-hand calcium binding domain 14,495aa) | g.1:47157524G>A,c.665C>T,p.T222M |
| EFCAB14(NM_014774,EF-hand calcium binding domain 14,495aa) | g.1:47154144G>A,c.868C>T,p.L290F |
| EFCAB14(NM_014774,EF-hand calcium binding domain 14,495aa) | g.1:47152520A>G,c.1010T>C,p.L337P |