| 基因名 | 突变 |
|---|---|
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236917299G>A,c.1268G>A,p.R423H |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236917271G>A,c.1240G>A,p.D414N |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236912494A>G,c.962A>G,p.N321S |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236910986G>A,c.802G>A,p.A268T |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236910983G>A,c.799G>A,p.D267N |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236907977A>C,c.683A>C,p.E228A |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236907962C>T,c.668C>T,p.S223L |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236906323C>T,c.611C>T,p.T204M |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236906250T>A,c.538T>A,p.W180R |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236902672T>C,c.323T>C,p.M108T |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236902618G>A,c.269G>A,p.R90H |
| ACTN2(NM_001278344,actinin, alpha 2,686aa) | g.1:236899900del,c.91del,p.31fs |
| ACTN1(NM_001130004,actinin, alpha 1,914aa) | g.14:69392352G>A,c.143C>T,p.A48V |
| ACTN1(NM_001130004,actinin, alpha 1,914aa) | g.14:69347534G>A,c.2126C>T,p.T709I |
| ACTN1(NM_001130004,actinin, alpha 1,914aa) | g.14:69345218G>A,c.2384C>T,p.T795M |
| ACTN1(NM_001130004,actinin, alpha 1,914aa) | g.14:69343818T>C,c.2567A>G,p.K856R |
| ACTN1(NM_001130004,actinin, alpha 1,914aa) | g.14:69341730T>C,c.2591A>G,p.Y864C |
| ACTN1(NM_001130004,actinin, alpha 1,914aa) | g.14:69341658G>A,c.2663C>T,p.P888L |
| ACTN1(NM_001130004,actinin, alpha 1,914aa) | g.14:69341653T>A,c.2668A>T,p.T890S |
| ACTL9(NM_178525,actin-like 9,416aa) | g.19:8809015A>C,c.37T>G,p.S13A |
| ACTL9(NM_178525,actin-like 9,416aa) | g.19:8808942A>G,c.110T>C,p.F37S |
| ACTL9(NM_178525,actin-like 9,416aa) | g.19:8808900A>G,c.152T>C,p.V51A |
| ACTL9(NM_178525,actin-like 9,416aa) | g.19:8808849T>C,c.203A>G,p.Q68R |
| ACTL9(NM_178525,actin-like 9,416aa) | g.19:8808822G>T,c.230C>A,p.T77N |
| ACTL9(NM_178525,actin-like 9,416aa) | g.19:8808796G>A,c.256C>T,p.P86S |
| ACTL9(NM_178525,actin-like 9,416aa) | g.19:8808373G>T,c.679C>A,p.H227N |
| ACTL9(NM_178525,actin-like 9,416aa) | g.19:8808264G>C,c.788C>G,p.S263C |
| ACTL9(NM_178525,actin-like 9,416aa) | g.19:8808240C>G,c.812G>C,p.R271P |