| 基因名 | 突变 |
|---|---|
| S100A14(NM_020672,S100 calcium binding protein A14,104aa) | g.1:153588321C>T,c.14G>A,p.R5Q |
| S100A14(NM_020672,S100 calcium binding protein A14,104aa) | g.1:153587788C>T,c.100G>A,p.V34M |
| S100A14(NM_020672,S100 calcium binding protein A14,104aa) | g.1:153587769G>A,c.119C>T,p.T40M |
| S100A14(NM_020672,S100 calcium binding protein A14,104aa) | g.1:153587712G>A,c.176C>T,p.P59L |
| S100A13(NM_001024210,S100 calcium binding protein A13,98aa) | g.1:153598846C>T,c.103G>A,p.V35I |
| S100A13(NM_001024210,S100 calcium binding protein A13,98aa) | g.1:153591448T>G,c.220A>C,p.N74H |
| S100A12(NM_005621,S100 calcium binding protein A12,92aa) | g.1:153347007C>T,c.62G>A,p.R21Q |
| S100A12(NM_005621,S100 calcium binding protein A12,92aa) | g.1:153346951C>T,c.118G>A,p.E40K |
| S100A11(NM_005620,S100 calcium binding protein A11,105aa) | g.1:152006266G>A,c.14C>T,p.S5F |
| S100A11(NM_005620,S100 calcium binding protein A11,105aa) | g.1:152006245C>T,c.35G>A,p.R12Q |
| S100A11(NM_005620,S100 calcium binding protein A11,105aa) | g.1:152005146G>C,c.310C>G,p.R104G |
| S100A10(NM_002966,S100 calcium binding protein A10,97aa) | g.1:151955753G>C,c.180C>G,p.D60E |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34150083G>A,c.14110G>A,p.E4704K |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34147054G>A,c.13948G>A,p.A4650T |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34137080_34137082del,c.13314_13316del,p.4438_4439del |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34134195A>G,c.13168A>G,p.N4390D |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34134178C>T,c.13151C>T,p.P4384L |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34134154G>A,c.13127G>A,p.R4376Q |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34130644G>A,c.12463G>A,p.D4155N |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34130137C>T,c.11956C>T,p.P3986S |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34130045C>T,c.11864C>T,p.T3955M |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34127250A>C,c.11545A>C,p.N3849H |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34127220G>A,c.11515G>A,p.A3839T |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34113729A>G,c.10921A>G,p.M3641V |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34109067C>T,c.10507C>T,p.R3503C |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34105732G>A,c.10454G>A,p.R3485Q |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34094101T>C,c.9950T>C,p.I3317T |
| RYR3(NM_001036,ryanodine receptor 3,4870aa) | g.15:34093017C>T,c.9877C>T,p.R3293C |