| 基因名 | 突变 |
|---|---|
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43936117C>T,c.3769G>A,p.V1257M |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43936087C>T,c.3799G>A,p.V1267I |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43936074G>C,c.3812C>G,p.T1271S |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43933357C>A,c.3948G>T,p.R1316S |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43933296C>T,c.4009G>A,p.V1337M |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43933285_43933286del,c.4019_4020del,p.1340fs |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43930707T>C,c.4094A>G,p.Q1365R |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43926845C>T,c.4234-1G>A,p.1412Acceptor |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43926741T>C,c.4337A>G,p.Y1446C |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43926729C>A,c.4349G>T,p.G1450V |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43924750G>A,c.4489C>T,p.R1497W |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43924749C>T,c.4490G>A,p.R1497Q |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28417656G>A,c.3901G>A,p.E1301K |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28417534G>A,c.3779G>A,p.G1260E |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28417521C>T,c.3766C>T,p.R1256C |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28407957C>A,c.3384C>A,p.H1128Q |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28407931G>T,c.3358G>T,p.A1120S |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28407223T>C,c.3161T>C,p.L1054P |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28405505T>G,c.3010T>G,p.F1004V |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28405431G>A,c.2936G>A,p.R979Q |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28405430C>T,c.2935C>T,p.R979W |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28405349C>T,c.2854C>T,p.Q952X |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28386587C>T,c.2605C>T,p.R869X |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28384837G>A,c.2509G>A,p.E837K |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28384727G>T,c.2399G>T,p.C800F |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28384703C>T,c.2375C>T,p.S792L |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28380758C>A,c.1786C>A,p.Q596K |
| EFCAB5(NM_198529,EF-hand calcium binding domain 5,1503aa) | g.17:28380738G>A,c.1766G>A,p.R589H |