| 基因名 | 突变 |
|---|---|
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44151656A>G,c.497T>C,p.V166A |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44131803C>T,c.578G>A,p.R193Q |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44131786T>C,c.595A>G,p.R199G |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44127659G>T,c.677C>A,p.T226N |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44107407C>T,c.979G>A,p.D327N |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44083442T>C,c.1051A>G,p.T351A |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44079680G>A,c.1198C>T,p.H400Y |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44067926G>A,c.1567C>T,p.R523C |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44067917G>A,c.1576C>T,p.R526X |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44064909G>C,c.1657C>G,p.Q553E |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44063048T>C,c.1919A>G,p.K640R |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44063042C>T,c.1925G>A,p.R642Q |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44031042T>C,c.2038A>G,p.T680A |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44028100G>A,c.2117C>T,p.P706L |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44022493G>A,c.2299C>T,p.H767Y |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44022441C>T,c.2351G>A,p.R784H |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44022394G>A,c.2398C>T,p.R800W |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44022345G>A,c.2447C>T,p.A816V |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44004449C>T,c.2594G>A,p.G865D |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44004441G>A,c.2602C>T,p.R868X |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43996082T>C,c.2743A>G,p.N915D |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43976396G>A,c.3176C>T,p.A1059V |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43972314C>T,c.3283G>A,p.G1095R |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43950949G>A,c.3448C>T,p.P1150S |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43950936G>A,c.3461C>T,p.P1154L |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43950853T>G,c.3544A>C,p.T1182P |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43950819G>A,c.3578C>T,p.T1193M |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:43936219C>T,c.3667G>A,p.E1223K |