基因名 |
突变 |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102900798T>G,c.1644T>G,p.N548K |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102900760G>C,c.1606G>C,p.G536R |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102900631C>T,c.1477C>T,p.P493S |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102898363C>T,c.1315C>T,p.P439S |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102898252G>A,c.1204G>A,p.V402M |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102898204G>A,c.1156G>A,p.A386T |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102894593G>A,c.958G>A,p.V320I |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102891578G>A,c.901G>A,p.V301M |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102891495G>A,c.818G>A,p.R273H |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102881033A>G,c.541A>G,p.S181G |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102843111A>G,c.53A>G,p.Y18C |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97875443G>C,c.16C>G,p.L6V |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97875382T>G,c.77A>C,p.E26A |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97875349C>T,c.110G>A,p.R37H |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97874212T>A,c.393A>T,p.E131D |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97867832T>C,c.1024A>G,p.M342V |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97863152G>A,c.1253C>T,p.S418L |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97863099C>T,c.1306G>A,p.D436N |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97863084T>A,c.1321A>T,p.T441S |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97863033C>T,c.1372G>A,p.V458M |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97863017G>A,c.1388C>T,p.P463L |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97862807A>G,c.1598T>C,p.L533P |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97862265G>C,c.1692C>G,p.H564Q |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97861243T>C,c.1847A>G,p.Q616R |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97861163G>A,c.1927C>T,p.R643W |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97860573C>T,c.2087G>A,p.R696H |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97860285G>T,c.2270C>A,p.P757H |
TECPR1(NM_015395,tectonin beta-propeller repeat containing 1,1165aa) |
g.7:97858360A>T,c.2401T>A,p.C801S |