| 基因名 | 突变 |
|---|---|
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158505068G>A,c.3070G>A,p.D1024N |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158504540G>A,c.2945G>A,p.R982Q |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158504534G>A,c.2939G>A,p.R980Q |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158504489C>T,c.2894C>T,p.P965L |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158502193C>T,c.2620C>T,p.R874W |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158497727G>A,c.2362G>A,p.A788T |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158495700T>G,c.2222T>G,p.F741C |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158492704C>T,c.2011C>T,p.R671C |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158492660C>T,c.1967C>T,p.T656M |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158490659G>A,c.1894G>A,p.V632I |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158487551T>C,c.1601T>C,p.M534T |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158485969G>A,c.1471G>A,p.G491S |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158484904G>C,c.1209G>C,p.E403D |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158484870G>A,c.1175G>A,p.R392Q |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158483177G>T,c.1108G>T,p.G370W |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158464399G>A,c.763G>A,p.V255I |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158454680G>A,c.679G>A,p.G227S |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158454638C>T,c.637C>T,p.R213C |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158454575C>T,c.574C>T,p.R192C |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158450040G>A,c.467G>A,p.W156X |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158438287C>T,c.179C>T,p.A60V |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158403039G>A,c.46G>A,p.E16K |
| SYNJ2BP(NM_018373,synaptojanin 2 binding protein,145aa) | g.14:70883656C>T,c.25G>A,p.V9I |
| SYNJ2BP(NM_018373,synaptojanin 2 binding protein,145aa) | g.14:70883637T>C,c.44A>G,p.N15S |
| SYNJ2BP(NM_018373,synaptojanin 2 binding protein,145aa) | g.14:70839722G>A,c.424C>T,p.R142W |
| SYNJ2BP(NM_018373,synaptojanin 2 binding protein,145aa) | g.14:70839721C>T,c.425G>A,p.R142Q |
| SYNJ1(NM_203446,synaptojanin 1,1350aa) | g.21:34074283G>A,c.316C>T,p.R106W |
| SYNJ1(NM_203446,synaptojanin 1,1350aa) | g.21:34060664C>T,c.920G>A,p.R307H |