基因名 |
突变 |
SYK(NM_003177,spleen tyrosine kinase,635aa) |
g.9:93637093del,c.1143del,p.381fs |
SYK(NM_003177,spleen tyrosine kinase,635aa) |
g.9:93626890A>G,c.737A>G,p.Y246C |
SYF2(NM_015484,SYF2 pre-mRNA-splicing factor,243aa) |
g.1:25554719G>A,c.266C>T,p.A89V |
SYF2(NM_015484,SYF2 pre-mRNA-splicing factor,243aa) |
g.1:25554663C>T,c.322G>A,p.A108T |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85666474G>A,c.206C>T,p.P69L |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85666327T>C,c.353A>G,p.E118G |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85666163C>A,c.517G>T,p.D173Y |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85666156T>G,c.524A>C,p.Q175P |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85666118C>T,c.562G>A,p.V188I |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85665973A>T,c.707T>A,p.V236D |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85656421C>T,c.760G>A,p.A254T |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85656369A>G,c.812T>C,p.I271T |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85655931C>T,c.1250G>A,p.R417Q |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85655916G>A,c.1265C>T,p.S422L |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85648692C>T,c.1633G>A,p.V545I |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85648620C>T,c.1705G>A,p.V569I |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85648497T>C,c.1828A>G,p.M610V |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85647999G>C,c.2326C>G,p.H776D |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85647905A>G,c.2420T>C,p.I807T |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85647900G>T,c.2425C>A,p.Q809K |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85634847C>A,c.2733G>T,p.E911D |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85624837T>C,c.3181A>G,p.M1061V |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85624549C>T,c.3469G>A,p.V1157I |
SYDE2(NM_032184,synapse defective 1, Rho GTPase, homolog 2 (C. elegans),1194aa) |
g.1:85624470C>T,c.3548G>A,p.R1183H |
SYDE1(NM_033025,synapse defective 1, Rho GTPase, homolog 1 (C. elegans),735aa) |
g.19:15224587A>C,c.2021A>C,p.D674A |
SYDE1(NM_033025,synapse defective 1, Rho GTPase, homolog 1 (C. elegans),735aa) |
g.19:15224482G>C,c.1916G>C,p.G639A |
SYDE1(NM_033025,synapse defective 1, Rho GTPase, homolog 1 (C. elegans),735aa) |
g.19:15224475C>T,c.1909C>T,p.P637S |
SYDE1(NM_033025,synapse defective 1, Rho GTPase, homolog 1 (C. elegans),735aa) |
g.19:15220850G>A,c.766G>A,p.A256T |