| 基因名 | 突变 |
|---|---|
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143747464G>A,c.14C>T,p.P5L |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143747389G>A,c.89C>T,p.T30M |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143747023C>T,c.455G>A,p.S152N |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143746717T>C,c.761A>G,p.Y254C |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143746676del,c.802del,p.268fs |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143746349C>T,c.1129G>A,p.V377I |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143746094C>A,c.1384G>T,p.V462L |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143746088_143746089del,c.1389-1del,p.463Acceptordel |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143746050C>T,c.1426G>A,p.G476R |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143745990C>T,c.1486G>A,p.A496T |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143745981G>A,c.1495C>T,p.R499C |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143745974G>A,c.1502C>T,p.A501V |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143745969G>A,c.1507C>T,p.R503W |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143745968C>T,c.1508G>A,p.R503Q |
| JRK(NM_003724,jerky homolog (mouse),568aa) | g.8:143745885G>A,c.1591C>T,p.R531W |
| JRKL(NM_003772,jerky homolog-like (mouse),524aa) | g.11:96125281G>T,c.1468G>T,p.D490Y |
| JPH4(NM_032452,junctophilin 4,628aa) | g.14:24040628G>T,c.1312C>A,p.P438T |
| JPH4(NM_032452,junctophilin 4,628aa) | g.14:24040453G>A,c.1487C>T,p.P496L |
| JPH4(NM_032452,junctophilin 4,628aa) | g.14:24040430C>T,c.1510G>A,p.A504T |
| JPH4(NM_032452,junctophilin 4,628aa) | g.14:24040195G>C,c.1745C>G,p.A582G |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87723887G>T,c.1921G>T,p.D641Y |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87723611G>A,c.1645G>A,p.G549S |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87723568G>C,c.1602G>C,p.E534D |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87717867A>T,c.1280A>T,p.E427V |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678580G>A,c.1099G>A,p.V367I |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678575G>A,c.1094G>A,p.R365H |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678574C>T,c.1093C>T,p.R365C |
| JPH3(NM_020655,junctophilin 3,748aa) | g.16:87678548C>T,c.1067C>T,p.A356V |