| 基因名 | 突变 |
|---|---|
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112898842C>T,c.1018C>T,p.R340W |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112898599G>A,c.775G>A,p.A259T |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112898576C>T,c.752C>T,p.P251L |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112778251G>T,c.514G>T,p.V172L |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112694303C>T,c.491C>T,p.A164V |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112687354C>T,c.386C>T,p.T129M |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112687351G>C,c.383G>C,p.S128T |
| PALM2-AKAP2(NM_007203,PALM2-AKAP2 readthrough,1103aa) | g.9:112629822G>A,c.97G>A,p.E33K |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169846390G>A,c.3365G>A,p.R1122Q |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169837051G>A,c.2723G>A,p.R908H |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169819786T>C,c.2393T>C,p.M798T |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169632959C>T,c.1849C>T,p.R617C |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169611812G>A,c.1394G>A,p.R465H |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169606649C>A,c.1274C>A,p.T425N |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169606648A>T,c.1273A>T,p.T425S |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169589472C>T,c.1040C>T,p.T347M |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169433419G>A,c.764G>A,p.R255H |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169433327G>A,c.672G>A,p.M224I |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169433326T>C,c.671T>C,p.M224T |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169433083G>A,c.428G>A,p.R143H |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169433067C>T,c.412C>T,p.R138X |
| PALLD(NM_001166108,palladin, cytoskeletal associated protein,1123aa) | g.4:169433020C>T,c.365C>T,p.P122L |
| PALD1(NM_014431,phosphatase domain containing, paladin 1,856aa) | g.10:72326470C>T,c.2552C>T,p.A851V |
| PALD1(NM_014431,phosphatase domain containing, paladin 1,856aa) | g.10:72326400G>A,c.2482G>A,p.G828R |
| PALD1(NM_014431,phosphatase domain containing, paladin 1,856aa) | g.10:72307101C>T,c.2161C>T,p.R721C |
| PALD1(NM_014431,phosphatase domain containing, paladin 1,856aa) | g.10:72300891G>A,c.1942G>A,p.A648T |
| PALD1(NM_014431,phosphatase domain containing, paladin 1,856aa) | g.10:72300886G>A,c.1937G>A,p.R646Q |
| PALD1(NM_014431,phosphatase domain containing, paladin 1,856aa) | g.10:72300885C>T,c.1936C>T,p.R646W |