基因名 |
突变 |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91835729G>A,c.1999G>A,p.G667S |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91827271A>G,c.1528A>G,p.I510V |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91811774G>A,c.1312G>A,p.A438T |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91811709G>A,c.1247G>A,p.R416H |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91795651C>T,c.685C>T,p.R229W |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91795601T>C,c.635T>C,p.I212T |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91795147G>A,c.550G>A,p.V184I |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91795124G>A,c.527G>A,p.R176Q |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91795076C>T,c.479C>T,p.A160V |
SV2B(NM_014848,synaptic vesicle glycoprotein 2B,683aa) |
g.15:91769533G>A,c.40G>A,p.A14T |
SV2A(NM_014849,synaptic vesicle glycoprotein 2A,742aa) |
g.1:149885023C>G,c.370G>C,p.G124R |
SV2A(NM_014849,synaptic vesicle glycoprotein 2A,742aa) |
g.1:149880793G>A,c.1330C>T,p.R444W |
SV2A(NM_014849,synaptic vesicle glycoprotein 2A,742aa) |
g.1:149878400C>T,c.1687G>A,p.E563K |
SUZ12(NM_015355,SUZ12 polycomb repressive complex 2 subunit,739aa) |
g.17:30320963G>A,c.1373G>A,p.R458H |
SUZ12(NM_015355,SUZ12 polycomb repressive complex 2 subunit,739aa) |
g.17:30264476G>A,c.211G>A,p.V71M |
SUV420H2(NM_032701,suppressor of variegation 4-20 homolog 2 (Drosophila),462aa) |
g.19:55858647C>T,c.1219C>T,p.R407C |
SUV420H2(NM_032701,suppressor of variegation 4-20 homolog 2 (Drosophila),462aa) |
g.19:55858441C>T,c.1013C>T,p.P338L |
SUV420H2(NM_032701,suppressor of variegation 4-20 homolog 2 (Drosophila),462aa) |
g.19:55858359G>A,c.931G>A,p.A311T |
SUV420H2(NM_032701,suppressor of variegation 4-20 homolog 2 (Drosophila),462aa) |
g.19:55857920C>T,c.760C>T,p.R254W |
SUV420H2(NM_032701,suppressor of variegation 4-20 homolog 2 (Drosophila),462aa) |
g.19:55855167G>A,c.506G>A,p.R169Q |
SUV420H2(NM_032701,suppressor of variegation 4-20 homolog 2 (Drosophila),462aa) |
g.19:55855098G>A,c.437G>A,p.R146Q |
SUV420H2(NM_032701,suppressor of variegation 4-20 homolog 2 (Drosophila),462aa) |
g.19:55854179A>T,c.346A>T,p.M116L |
SUV420H1(NM_017635,suppressor of variegation 4-20 homolog 1 (Drosophila),885aa) |
g.11:67957518A>T,c.26T>A,p.I9N |
SUV420H1(NM_017635,suppressor of variegation 4-20 homolog 1 (Drosophila),885aa) |
g.11:67926515T>C,c.1298A>G,p.N433S |
SUV420H1(NM_017635,suppressor of variegation 4-20 homolog 1 (Drosophila),885aa) |
g.11:67926220G>C,c.1593C>G,p.S531R |
SUV420H1(NM_017635,suppressor of variegation 4-20 homolog 1 (Drosophila),885aa) |
g.11:67926218G>A,c.1595C>T,p.S532L |
SUV420H1(NM_017635,suppressor of variegation 4-20 homolog 1 (Drosophila),885aa) |
g.11:67926130C>A,c.1683G>T,p.L561F |
SUV420H1(NM_017635,suppressor of variegation 4-20 homolog 1 (Drosophila),885aa) |
g.11:67926107G>A,c.1706C>T,p.T569M |