| 基因名 | 突变 |
|---|---|
| EFCC1(NM_024768,EF-hand and coiled-coil domain containing 1,598aa) | g.3:128753140G>A,c.1417G>A,p.G473S |
| EFCC1(NM_024768,EF-hand and coiled-coil domain containing 1,598aa) | g.3:128753056G>A,c.1333G>A,p.G445S |
| EFCC1(NM_024768,EF-hand and coiled-coil domain containing 1,598aa) | g.3:128753024C>T,c.1301C>T,p.A434V |
| EFCC1(NM_024768,EF-hand and coiled-coil domain containing 1,598aa) | g.3:128751670G>A,c.1144G>A,p.E382K |
| EFCC1(NM_024768,EF-hand and coiled-coil domain containing 1,598aa) | g.3:128722766C>A,c.826C>A,p.R276S |
| EFCC1(NM_024768,EF-hand and coiled-coil domain containing 1,598aa) | g.3:128722685G>A,c.745G>A,p.G249R |
| EFCC1(NM_024768,EF-hand and coiled-coil domain containing 1,598aa) | g.3:128720487A>G,c.16A>G,p.T6A |
| EFCAB9(NM_001171183,EF-hand calcium binding domain 9,197aa) | g.5:171630305G>A,c.550G>A,p.G184R |
| EFCAB9(NM_001171183,EF-hand calcium binding domain 9,197aa) | g.5:171627659A>C,c.375A>C,p.K125N |
| EFCAB9(NM_001171183,EF-hand calcium binding domain 9,197aa) | g.5:171627649T>C,c.365T>C,p.I122T |
| EFCAB9(NM_001171183,EF-hand calcium binding domain 9,197aa) | g.5:171621293C>G,c.117C>G,p.H39Q |
| EFCAB9(NM_001171183,EF-hand calcium binding domain 9,197aa) | g.5:171621214A>G,c.38A>G,p.Y13C |
| EFCAB7(NM_032437,EF-hand calcium binding domain 7,629aa) | g.1:64038174C>T,c.1877C>T,p.S626F |
| EFCAB7(NM_032437,EF-hand calcium binding domain 7,629aa) | g.1:64034059G>A,c.1576G>A,p.G526R |
| EFCAB7(NM_032437,EF-hand calcium binding domain 7,629aa) | g.1:64027454C>G,c.1423C>G,p.R475G |
| EFCAB7(NM_032437,EF-hand calcium binding domain 7,629aa) | g.1:64021096G>A,c.1124G>A,p.R375K |
| EFCAB7(NM_032437,EF-hand calcium binding domain 7,629aa) | g.1:64017419G>A,c.970G>A,p.V324I |
| EFCAB7(NM_032437,EF-hand calcium binding domain 7,629aa) | g.1:64011657A>G,c.875A>G,p.Y292C |
| EFCAB7(NM_032437,EF-hand calcium binding domain 7,629aa) | g.1:63999868T>C,c.785T>C,p.M262T |
| EFCAB7(NM_032437,EF-hand calcium binding domain 7,629aa) | g.1:63999826C>T,c.743C>T,p.T248I |
| EFCAB7(NM_032437,EF-hand calcium binding domain 7,629aa) | g.1:63999138A>G,c.500A>G,p.Y167C |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44178161G>A,c.38C>T,p.S13L |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44178147G>A,c.52C>T,p.R18X |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44178128C>T,c.71G>A,p.R24K |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44168935A>G,c.188T>C,p.I63T |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44168801G>A,c.322C>T,p.R108X |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44161261T>A,c.364A>T,p.T122S |
| EFCAB6(NM_022785,EF-hand calcium binding domain 6,1501aa) | g.22:44151683C>T,c.470G>A,p.R157H |