| 基因名 | 突变 |
|---|---|
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86044067A>C,c.1839A>C,p.K613N |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86041456G>A,c.1468G>A,p.E490K |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86027617A>T,c.728A>T,p.D243V |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86027418A>G,c.628A>G,p.T210A |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86021994G>A,c.269G>A,p.C90Y |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86021963A>G,c.238A>G,p.I80V |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86021932T>A,c.207T>A,p.H69Q |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86021913A>G,c.188A>G,p.H63R |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86019632G>C,c.102G>C,p.Q34H |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86019544C>A,c.14C>A,p.A5E |
| LRRCC1(NM_033402,leucine rich repeat and coiled-coil centrosomal protein 1,1032aa) | g.8:86019541C>T,c.11C>T,p.A4V |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7965776G>A,c.2369G>A,p.R790Q |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7965598G>A,c.2191G>A,p.D731N |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7965424G>A,c.2017G>A,p.G673S |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7965296G>A,c.1889G>A,p.R630Q |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7964859C>A,c.1452C>A,p.D484E |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7964768C>G,c.1361C>G,p.P454R |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7964620G>A,c.1213G>A,p.E405K |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7964482G>A,c.1075G>A,p.V359I |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7964053G>A,c.646G>A,p.E216K |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7963976T>C,c.569T>C,p.M190T |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7963951C>T,c.544C>T,p.R182W |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7963949A>G,c.542A>G,p.E181G |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7963948G>A,c.541G>A,p.E181K |
| LRRC8E(NM_001268284,leucine rich repeat containing 8 family, member E,796aa) | g.19:7963733C>T,c.326C>T,p.T109M |
| LRRC8D(NM_001134479,leucine rich repeat containing 8 family, member D,858aa) | g.1:90401041T>C,c.2414T>C,p.L805P |
| LRRC8D(NM_001134479,leucine rich repeat containing 8 family, member D,858aa) | g.1:90400410G>T,c.1783G>T,p.V595L |
| LRRC8D(NM_001134479,leucine rich repeat containing 8 family, member D,858aa) | g.1:90398976C>T,c.349C>T,p.R117C |