基因名 |
突变 |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35399202G>A,c.3872G>A,p.R1291H |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35398900G>T,c.3696G>T,p.E1232D |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35398633G>A,c.3668G>A,p.G1223E |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35398605G>A,c.3640G>A,p.V1214I |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35397166C>G,c.3288C>G,p.F1096L |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35396599C>T,c.3188C>T,p.A1063V |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35396556C>T,c.3145C>T,p.R1049W |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35396477T>G,c.3066T>G,p.H1022Q |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35389944G>C,c.2949G>C,p.K983N |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35381577A>T,c.2269A>T,p.I757F |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35380531T>G,c.2023T>G,p.S675A |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35380489C>T,c.1981C>T,p.R661C |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35378376A>G,c.1901A>G,p.K634R |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35377549G>A,c.1673G>A,p.R558Q |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35376184G>A,c.1528G>A,p.E510K |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35310565G>A,c.863G>A,p.R288Q |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35295880C>A,c.714C>A,p.D238E |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35295864G>A,c.698G>A,p.R233Q |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35295828G>T,c.662G>T,p.R221L |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35295780C>T,c.614C>T,p.T205I |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35295716G>A,c.550G>A,p.V184I |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35237737C>T,c.308C>T,p.T103M |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35236555C>T,c.242C>T,p.A81V |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35231123T>A,c.59T>A,p.F20Y |
UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) |
g.19:17783275G>A,c.182C>T,p.T61M |
UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) |
g.19:17777509G>A,c.473C>T,p.S158L |
UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) |
g.19:17767083G>A,c.892C>T,p.R298W |
UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) |
g.19:17766900C>T,c.1075G>A,p.A359T |