基因名 |
突变 |
ACTRT3(NM_032487,actin-related protein T3,372aa) |
g.3:169485588G>C,c.751C>G,p.L251V |
ACTRT3(NM_032487,actin-related protein T3,372aa) |
g.3:169485336A>G,c.1003T>C,p.S335P |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2939331G>A,c.1081G>A,p.A361T |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2939191G>A,c.941G>A,p.R314Q |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2938989G>A,c.739G>A,p.G247R |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2938924T>G,c.674T>G,p.L225W |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2938887G>A,c.637G>A,p.V213M |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2938480G>A,c.230G>A,p.R77H |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2938416T>C,c.166T>C,p.Y56H |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2938410A>C,c.160A>C,p.K54Q |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2938408_2938410del,c.158_160del,p.53_54del |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2938345G>A,c.95G>A,p.R32Q |
ACTRT2(NM_080431,actin-related protein T2,377aa) |
g.1:2938266G>A,c.16G>A,p.A6T |
ACTRT1(NM_138289,actin-related protein T1,376aa) |
g.X:127186091C>T,c.95G>A,p.R32H |
ACTRT1(NM_138289,actin-related protein T1,376aa) |
g.X:127186074C>T,c.112G>A,p.V38I |
ACTRT1(NM_138289,actin-related protein T1,376aa) |
g.X:127186017C>T,c.169G>A,p.V57M |
ACTRT1(NM_138289,actin-related protein T1,376aa) |
g.X:127185755G>A,c.431C>T,p.A144V |
ACTRT1(NM_138289,actin-related protein T1,376aa) |
g.X:127185657C>T,c.529G>A,p.A177T |
ACTRT1(NM_138289,actin-related protein T1,376aa) |
g.X:127185494C>A,c.692G>T,p.R231L |
ACTRT1(NM_138289,actin-related protein T1,376aa) |
g.X:127185426C>T,c.760G>A,p.E254K |
ACTRT1(NM_138289,actin-related protein T1,376aa) |
g.X:127185311T>C,c.875A>G,p.N292S |
ACTRT1(NM_138289,actin-related protein T1,376aa) |
g.X:127185233A>G,c.953T>C,p.V318A |
ACTR8(NM_022899,ARP8 actin-related protein 8 homolog (yeast),624aa) |
g.3:53914093G>A,c.167C>T,p.T56I |
ACTR8(NM_022899,ARP8 actin-related protein 8 homolog (yeast),624aa) |
g.3:53912418T>C,c.371A>G,p.N124S |
ACTR8(NM_022899,ARP8 actin-related protein 8 homolog (yeast),624aa) |
g.3:53906548G>A,c.1165C>T,p.P389S |
ACTR8(NM_022899,ARP8 actin-related protein 8 homolog (yeast),624aa) |
g.3:53906527C>T,c.1186G>A,p.A396T |
ACTR8(NM_022899,ARP8 actin-related protein 8 homolog (yeast),624aa) |
g.3:53906434C>A,c.1279G>T,p.A427S |
ACTR8(NM_022899,ARP8 actin-related protein 8 homolog (yeast),624aa) |
g.3:53902856C>G,c.1765G>C,p.G589R |