| Genename | Variants |
|---|---|
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71801439C>T,c.3337C>T,p.R1113C |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71797762G>A,c.3116G>A,p.R1039Q |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71797041A>T,c.2953A>T,p.M985L |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71795459C>T,c.2852C>T,p.P951L |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71795108C>T,c.2590C>T,p.R864W |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71791332A>G,c.2551A>G,p.I851V |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71789052G>A,c.2384G>A,p.R795H |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71788922C>A,c.2254C>A,p.H752N |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71781056C>T,c.2101C>T,p.R701W |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71780951T>C,c.1996T>C,p.Y666H |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71780265T>C,c.1928T>C,p.M643T |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71778842C>T,c.1795C>T,p.R599W |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71762413G>A,c.1462G>A,p.E488K |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71755439G>A,c.1285G>A,p.V429M |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71753416G>C,c.1213G>C,p.V405L |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71748034T>G,c.1146T>G,p.P382P |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71748030C>T,c.1142C>T,p.A381V |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71744167C>T,c.997C>T,p.R333W |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71742841G>A,c.845G>A,p.R282Q |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71740953C>G,c.658C>G,p.L220V |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71740897C>A,c.602C>A,p.A201E |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71738977G>A,c.383G>A,p.G128E |
| DYSF(NM_001130981,dysferlin,2118aa) | g.2:71730412A>G,c.305A>G,p.N102S |
| DYRK4(NM_003845,dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4,520aa) | g.12:4722717A>T,c.1361A>T,p.D454V |
| DYRK4(NM_003845,dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4,520aa) | g.12:4721873C>T,c.1310C>T,p.S437L |
| DYRK4(NM_003845,dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4,520aa) | g.12:4719362del,c.1057del,p.353fs |
| DYRK4(NM_003845,dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4,520aa) | g.12:4714247A>T,c.949A>T,p.M317L |
| DYRK4(NM_003845,dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4,520aa) | g.12:4714091A>T,c.793A>T,p.I265F |