| 基因名 | 突变 |
|---|---|
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166900411C>T,c.1811G>A,p.R604H |
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166892788C>T,c.3199G>A,p.A1067T |
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166872146G>C,c.3521C>G,p.T1174S |
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166866307T>A,c.3924A>T,p.E1308D |
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166859170C>T,c.4096G>A,p.V1366I |
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166850751C>T,c.4757G>A,p.G1586E |
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166850715T>A,c.4793A>T,p.Y1598F |
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166850674C>T,c.4834G>A,p.V1612I |
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166848003G>C,c.5782C>G,p.R1928G |
| SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) | g.2:166847834G>T,c.5951C>A,p.P1984H |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38991759G>A,c.95C>T,p.A32V |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38962696T>G,c.763A>C,p.N255H |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38950586T>C,c.1201A>G,p.M401V |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38950530C>A,c.1257G>T,p.K419N |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38949471C>T,c.1442G>A,p.G481E |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38941480T>C,c.1927A>G,p.I643V |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38938400G>A,c.2339C>T,p.A780V |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38936338G>A,c.2521C>T,p.R841W |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38936134C>T,c.2725G>A,p.V909I |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38936055T>G,c.2804A>C,p.Q935P |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38924849C>T,c.3094G>A,p.V1032M |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38924806C>T,c.3137G>A,p.R1046Q |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38913706A>G,c.3473T>C,p.L1158P |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38888862A>G,c.4699T>C,p.C1567R |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38888735G>A,c.4826C>T,p.T1609I |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38888354C>A,c.5207G>T,p.G1736V |
| SCN11A(NM_014139,sodium channel, voltage-gated, type XI, alpha subunit,1791aa) | g.3:38888196G>A,c.5365C>T,p.H1789Y |
| SCN10A(NM_006514,sodium channel, voltage-gated, type X, alpha subunit,1956aa) | g.3:38835449G>A,c.53C>T,p.P18L |