| 基因名 | 突变 |
|---|---|
| SYNJ1(NM_203446,synaptojanin 1,1350aa) | g.21:34059352T>C,c.1001A>G,p.K334R |
| SYNJ1(NM_203446,synaptojanin 1,1350aa) | g.21:34053918del,c.1358del,p.453fs |
| SYNJ1(NM_203446,synaptojanin 1,1350aa) | g.21:34053877T>C,c.1399A>G,p.M467V |
| SYNJ1(NM_203446,synaptojanin 1,1350aa) | g.21:34045841G>A,c.1652C>T,p.A551V |
| SYNJ1(NM_203446,synaptojanin 1,1350aa) | g.21:34038789C>T,c.2023G>A,p.V675I |
| SYNJ1(NM_203446,synaptojanin 1,1350aa) | g.21:34029205C>T,c.2704G>A,p.V902I |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48878933C>T,c.395C>T,p.P132L |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48876969C>T,c.289C>T,p.R97C |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48876963G>A,c.283G>A,p.G95S |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48876898G>T,c.218G>T,p.G73V |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48876897G>A,c.217G>A,p.G73S |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48876888G>A,c.208G>A,p.V70M |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48876885G>A,c.205G>A,p.A69T |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48876829T>C,c.149T>C,p.M50T |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48869178C>T,c.79C>T,p.R27W |
| SYNGR4(NM_012451,synaptogyrin 4,234aa) | g.19:48869139G>A,c.40G>A,p.E14K |
| SYNGR3(NM_004209,synaptogyrin 3,229aa) | g.16:2042953C>G,c.570C>G,p.S190R |
| SYNGR3(NM_004209,synaptogyrin 3,229aa) | g.16:2042650C>A,c.351C>A,p.F117L |
| SYNGR2(NM_004710,synaptogyrin 2,224aa) | g.17:76167995A>C,c.653A>C,p.Y218S |
| SYNGR2(NM_004710,synaptogyrin 2,224aa) | g.17:76167848G>A,c.506G>A,p.R169H |
| SYNGR2(NM_004710,synaptogyrin 2,224aa) | g.17:76167090G>A,c.292G>A,p.A98T |
| SYNGR2(NM_004710,synaptogyrin 2,224aa) | g.17:76164779G>T,c.82G>T,p.A28S |
| SYNGR2(NM_004710,synaptogyrin 2,224aa) | g.17:76164758C>G,c.61C>G,p.L21V |
| SYNGR1(NM_004711,synaptogyrin 1,233aa) | g.22:39777886C>T,c.669C>T,p.T223T |
| SYNGR1(NM_004711,synaptogyrin 1,233aa) | g.22:39777825C>A,c.608C>A,p.T203N |
| SYNGR1(NM_004711,synaptogyrin 1,233aa) | g.22:39777824_39777825insACA,c.607_608insACA,p.203ins1aa |
| SYNGR1(NM_004711,synaptogyrin 1,233aa) | g.22:39777823_39777824insAAC,c.606_607insAAC,p.202_203ins1aa |
| SYNGR1(NM_004711,synaptogyrin 1,233aa) | g.22:39777822_39777823insCAA,c.605_606insCAA,p.202ins1aa |