| 基因名 | 突变 |
|---|---|
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119951821G>T,c.1891G>T,p.A631S |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119951647A>G,c.1717A>G,p.T573A |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119951510C>A,c.1580C>A,p.T527N |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119951092A>T,c.1162A>T,p.N388Y |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119948179C>T,c.655C>T,p.P219S |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119948059G>A,c.535G>A,p.A179T |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119948046A>C,c.522A>C,p.Q174H |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119947985G>C,c.461G>C,p.G154A |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119947962_119947964del,c.438_440del,p.146_147del |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119947922T>C,c.398T>C,p.L133P |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119944589G>A,c.110G>A,p.R37Q |
| SYNPO2L(NM_001114133,synaptopodin 2-like,977aa) | g.10:75415677C>T,c.4G>A,p.G2S |
| SYNPO2L(NM_001114133,synaptopodin 2-like,977aa) | g.10:75413196C>T,c.473G>A,p.R158H |
| SYNPO2L(NM_001114133,synaptopodin 2-like,977aa) | g.10:75408269T>C,c.1141A>G,p.S381G |
| SYNPO2L(NM_001114133,synaptopodin 2-like,977aa) | g.10:75407887G>T,c.1523C>A,p.P508H |
| SYNPO2L(NM_001114133,synaptopodin 2-like,977aa) | g.10:75407711G>A,c.1699C>T,p.P567S |
| SYNPO2L(NM_001114133,synaptopodin 2-like,977aa) | g.10:75407290G>A,c.2120C>T,p.P707L |
| SYNPO2L(NM_001114133,synaptopodin 2-like,977aa) | g.10:75406912G>T,c.2498C>A,p.S833Y |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158517308A>G,c.4403A>G,p.E1468G |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158517193C>T,c.4288C>T,p.L1430F |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158516905C>G,c.4000C>G,p.P1334A |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158516749C>T,c.3844C>T,p.R1282X |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158516737G>A,c.3832G>A,p.V1278M |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158514030C>T,c.3638C>T,p.P1213L |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158509779T>C,c.3431T>C,p.L1144P |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158509760A>G,c.3412A>G,p.I1138V |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158508015C>A,c.3337C>A,p.P1113T |
| SYNJ2(NM_003898,synaptojanin 2,1496aa) | g.6:158505107G>A,c.3109G>A,p.G1037R |