| 基因名 | 突变 |
|---|---|
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678544C>T,c.1063C>T,p.R355W |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678524G>A,c.1043G>A,p.R348H |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678514G>A,c.1033G>A,p.G345S |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678440G>A,c.959G>A,p.R320H |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678302C>T,c.821C>T,p.A274V |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678248C>T,c.767C>T,p.T256M |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678214C>T,c.733C>T,p.R245C |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678076G>A,c.595G>A,p.V199M |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678052G>A,c.571G>A,p.V191M |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678005C>T,c.524C>T,p.T175M |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87677887G>A,c.406G>A,p.G136S |
| JPH2(NM_020433,junctophilin 2,696aa) | g.20:42788607C>T,c.820G>A,p.D274N |
| JPH2(NM_020433,junctophilin 2,696aa) | g.20:42747253C>T,c.1180G>A,p.A394T |
| JPH2(NM_020433,junctophilin 2,696aa) | g.20:42747247C>T,c.1186G>A,p.A396T |
| JPH2(NM_020433,junctophilin 2,696aa) | g.20:42744802C>T,c.1513G>A,p.G505S |
| JPH2(NM_020433,junctophilin 2,696aa) | g.20:42744419C>G,c.1896G>C,p.E632D |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75233365G>A,c.158C>T,p.T53I |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75171713C>T,c.1165G>A,p.D389N |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75171682C>T,c.1196G>A,p.R399H |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75171671C>T,c.1207G>A,p.D403N |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75157254T>G,c.1415A>C,p.H472P |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75157184G>T,c.1485C>A,p.N495K |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75157149G>A,c.1520C>T,p.T507M |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75157110G>A,c.1559C>T,p.T520M |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75157093C>T,c.1576G>A,p.V526I |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75157057T>A,c.1612A>T,p.I538F |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75157053G>C,c.1616C>G,p.P539R |
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75156913C>T,c.1756G>A,p.A586T |