| 基因名 | 突变 |
|---|---|
| JPH1(NM_020647,junctophilin 1,661aa) | g.8:75156799C>G,c.1870G>C,p.D624H |
| JOSD2(NM_001270639,Josephin domain containing 2,188aa) | g.19:51010939C>T,c.164G>A,p.R55Q |
| JOSD2(NM_001270639,Josephin domain containing 2,188aa) | g.19:51009440C>T,c.557G>A,p.R186Q |
| JOSD1(NM_014876,Josephin domain containing 1,202aa) | g.22:39095849G>C,c.144C>G,p.S48R |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78612017G>A,c.2854G>A,p.D952N |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78610486C>T,c.2471C>T,p.P824L |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78610174A>G,c.2159A>G,p.H720R |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78602238G>A,c.1922G>A,p.R641H |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78596625G>A,c.1820G>A,p.R607H |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78596580C>T,c.1775C>T,p.A592V |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78573790A>T,c.1090A>T,p.M364L |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78533410A>G,c.937A>G,p.T313A |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78532835G>C,c.362G>C,p.S121T |
| JMY(NM_152405,junction mediating and regulatory protein, p53 cofactor,988aa) | g.5:78532658C>T,c.185C>T,p.A62V |
| JMJD8(NM_001005920,jumonji domain containing 8,285aa) | g.16:734135G>A,c.170C>T,p.A57V |
| JMJD8(NM_001005920,jumonji domain containing 8,285aa) | g.16:733572C>T,c.412G>A,p.E138K |
| JMJD8(NM_001005920,jumonji domain containing 8,285aa) | g.16:733441T>G,c.455A>C,p.D152A |
| JMJD8(NM_001005920,jumonji domain containing 8,285aa) | g.16:733429A>T,c.467T>A,p.F156Y |
| JMJD8(NM_001005920,jumonji domain containing 8,285aa) | g.16:733424C>G,c.472G>C,p.G158R |
| JMJD8(NM_001005920,jumonji domain containing 8,285aa) | g.16:733017C>T,c.713G>A,p.R238Q |
| JMJD8(NM_001005920,jumonji domain containing 8,285aa) | g.16:732964G>A,c.766C>T,p.R256W |
| JMJD8(NM_001005920,jumonji domain containing 8,285aa) | g.16:732820C>T,c.832G>A,p.V278I |
| JMJD8(NM_001005920,jumonji domain containing 8,285aa) | g.16:732799C>T,c.853G>A,p.G285S |
| JMJD7(NM_001114632,jumonji domain containing 7,316aa) | g.15:42129298A>G,c.895A>G,p.K299E |
| JMJD7(NM_001114632,jumonji domain containing 7,316aa) | g.15:42129055G>A,c.779G>A,p.R260H |
| JMJD7(NM_001114632,jumonji domain containing 7,316aa) | g.15:42129054C>T,c.778C>T,p.R260C |
| JMJD7(NM_001114632,jumonji domain containing 7,316aa) | g.15:42129021C>T,c.745C>T,p.R249W |
| JMJD7(NM_001114632,jumonji domain containing 7,316aa) | g.15:42128442G>T,c.625+1G>T,p.209Donor |