基因名 |
突变 |
STRN4(NM_001039877,striatin, calmodulin binding protein 4,760aa) |
g.19:47226133C>T,c.1861G>A,p.D621N |
STRN4(NM_001039877,striatin, calmodulin binding protein 4,760aa) |
g.19:47223981C>T,c.2161G>A,p.V721M |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31495346C>T,c.46G>A,p.A16T |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31425444C>T,c.287G>A,p.R96Q |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31416441T>C,c.571A>G,p.T191A |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31405801T>C,c.746A>G,p.N249S |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31398496G>A,c.1010C>T,p.T337I |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31398430C>T,c.1076G>A,p.R359Q |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31388312C>T,c.1100G>A,p.R367K |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31381351T>C,c.1412A>G,p.N471S |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31371807G>T,c.2072C>A,p.P691H |
STRN3(NM_001083893,striatin, calmodulin binding protein 3,797aa) |
g.14:31364948A>G,c.2144T>C,p.M715T |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129125477T>C,c.2312T>C,p.I771T |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129122741C>G,c.2108C>G,p.A703G |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129110498T>A,c.1886T>A,p.V629D |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129103970C>T,c.1637C>T,p.P546L |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129100160G>A,c.1423G>A,p.A475T |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129098165G>A,c.1148G>A,p.R383Q |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129096466C>T,c.1021C>T,p.R341C |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129095138A>G,c.760A>G,p.T254A |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129094330G>A,c.668G>A,p.G223E |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129094310G>T,c.648G>T,p.E216D |
STRIP2(NM_020704,striatin interacting protein 2,834aa) |
g.7:129074435A>G,c.122A>G,p.E41G |
STRIP1(NM_033088,striatin interacting protein 1,837aa) |
g.1:110596437G>A,c.2417G>A,p.R806Q |
STRIP1(NM_033088,striatin interacting protein 1,837aa) |
g.1:110594374C>T,c.2131C>T,p.L711F |
STRIP1(NM_033088,striatin interacting protein 1,837aa) |
g.1:110592970C>G,c.1895C>G,p.S632C |
STRIP1(NM_033088,striatin interacting protein 1,837aa) |
g.1:110584374A>G,c.776A>G,p.N259S |
STRIP1(NM_033088,striatin interacting protein 1,837aa) |
g.1:110584195G>A,c.688G>A,p.V230I |