| 基因名 | 突变 |
|---|---|
| ESYT3(NM_031913,extended synaptotagmin-like protein 3,886aa) | g.3:138176414C>T,c.509C>T,p.P170L |
| ESYT3(NM_031913,extended synaptotagmin-like protein 3,886aa) | g.3:138170893C>T,c.331C>T,p.H111Y |
| ESYT3(NM_031913,extended synaptotagmin-like protein 3,886aa) | g.3:138153666C>G,c.26C>G,p.P9R |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158622164G>C,c.90C>G,p.I30M |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158622031C>G,c.223G>C,p.G75R |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158590740A>T,c.544T>A,p.C182S |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158590695C>T,c.589G>A,p.V197M |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158590691C>T,c.593G>A,p.R198Q |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158590665A>C,c.619T>G,p.F207V |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158581070C>T,c.767G>A,p.R256Q |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158557372T>C,c.1241A>G,p.Y414C |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158552754C>T,c.1462G>A,p.D488N |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158540920T>C,c.1690A>G,p.I564V |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158536345A>G,c.1750T>C,p.S584P |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158536323G>A,c.1772C>T,p.P591L |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158536267T>C,c.1828A>G,p.S610G |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158534424A>G,c.2039T>C,p.I680T |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158534371C>T,c.2092G>A,p.G698S |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158531807G>A,c.2255C>T,p.T752M |
| ESYT2(NM_020728,extended synaptotagmin-like protein 2,893aa) | g.7:158528253C>T,c.2527G>A,p.D843N |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56537398A>G,c.3290A>G,p.Q1097R |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56536809G>A,c.3026G>A,p.R1009Q |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56536651A>G,c.2951A>G,p.Q984R |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56536090G>A,c.2644G>A,p.V882M |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56536073G>A,c.2627G>A,p.R876Q |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56532718C>G,c.2543C>G,p.S848W |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56532009C>T,c.2320C>T,p.R774C |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56527238G>A,c.1282G>A,p.V428I |