| Genename | Variants |
|---|---|
| PLEK2(NM_016445,pleckstrin 2,353aa) | g.14:67862242C>T,c.266G>A,p.R89Q |
| PLEK2(NM_016445,pleckstrin 2,353aa) | g.14:67859892_67859893insC,c.455_456insG,p.152fs |
| PLEK2(NM_016445,pleckstrin 2,353aa) | g.14:67859434C>T,c.614G>A,p.R205H |
| PLEK2(NM_016445,pleckstrin 2,353aa) | g.14:67859398G>C,c.650C>G,p.S217C |
| PLEK2(NM_016445,pleckstrin 2,353aa) | g.14:67857436G>A,c.799C>T,p.R267C |
| PLEC(NM_201380,plectin,4684aa) | g.8:145024838G>A,c.37C>T,p.R13W |
| PLEC(NM_201380,plectin,4684aa) | g.8:145024784G>A,c.91C>T,p.R31W |
| PLEC(NM_201380,plectin,4684aa) | g.8:145024570C>T,c.305G>A,p.R102H |
| PLEC(NM_201380,plectin,4684aa) | g.8:145024372G>A,c.503C>T,p.P168L |
| PLEC(NM_201380,plectin,4684aa) | g.8:145009450G>A,c.1045C>T,p.R349W |
| PLEC(NM_201380,plectin,4684aa) | g.8:145009036C>T,c.1298G>A,p.R433Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:145009027G>A,c.1307C>T,p.T436M |
| PLEC(NM_201380,plectin,4684aa) | g.8:145008532C>T,c.1534G>A,p.V512M |
| PLEC(NM_201380,plectin,4684aa) | g.8:145008497G>C,c.1569C>G,p.S523R |
| PLEC(NM_201380,plectin,4684aa) | g.8:145008167G>A,c.1673C>T,p.S558L |
| PLEC(NM_201380,plectin,4684aa) | g.8:145007500G>A,c.1694C>T,p.A565V |
| PLEC(NM_201380,plectin,4684aa) | g.8:145007187G>A,c.1922C>T,p.A641V |
| PLEC(NM_201380,plectin,4684aa) | g.8:145007139G>A,c.1970C>T,p.S657F |
| PLEC(NM_201380,plectin,4684aa) | g.8:145006992C>T,c.2117G>A,p.R706Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:145006972G>A,c.2137C>T,p.R713W |
| PLEC(NM_201380,plectin,4684aa) | g.8:145006317G>A,c.2474C>T,p.P825L |
| PLEC(NM_201380,plectin,4684aa) | g.8:145006143T>C,c.2551A>G,p.I851V |
| PLEC(NM_201380,plectin,4684aa) | g.8:145005769C>T,c.2648G>A,p.R883H |
| PLEC(NM_201380,plectin,4684aa) | g.8:145004447T>C,c.2888A>G,p.D963G |
| PLEC(NM_201380,plectin,4684aa) | g.8:145004388C>T,c.2947G>A,p.G983S |
| PLEC(NM_201380,plectin,4684aa) | g.8:145004373C>T,c.2962G>A,p.V988M |
| PLEC(NM_201380,plectin,4684aa) | g.8:145004364C>T,c.2971G>A,p.V991M |
| PLEC(NM_201380,plectin,4684aa) | g.8:145004123C>T,c.3131G>A,p.R1044H |