基因名 |
突变 |
TRPV1(NM_080706,transient receptor potential cation channel, subfamily V, member 1,839aa) |
g.17:3483776C>T,c.1522G>A,p.V508M |
TRPV1(NM_080706,transient receptor potential cation channel, subfamily V, member 1,839aa) |
g.17:3483770T>C,c.1528A>G,p.S510G |
TRPV1(NM_080706,transient receptor potential cation channel, subfamily V, member 1,839aa) |
g.17:3480447T>C,c.1753A>G,p.I585V |
TRPV1(NM_080706,transient receptor potential cation channel, subfamily V, member 1,839aa) |
g.17:3477181G>A,c.1849C>T,p.R617W |
TRPV1(NM_080706,transient receptor potential cation channel, subfamily V, member 1,839aa) |
g.17:3474857C>T,c.2308G>A,p.V770I |
TRPV1(NM_080706,transient receptor potential cation channel, subfamily V, member 1,839aa) |
g.17:3470230G>A,c.2399C>T,p.A800V |
TRPV1(NM_080706,transient receptor potential cation channel, subfamily V, member 1,839aa) |
g.17:3470198C>T,c.2431G>A,p.E811K |
TRPT1(NM_001160389,tRNA phosphotransferase 1,255aa) |
g.11:63993287C>T,c.46G>A,p.G16S |
TRPT1(NM_001160389,tRNA phosphotransferase 1,255aa) |
g.11:63992308G>A,c.292C>T,p.L98F |
TRPT1(NM_001160389,tRNA phosphotransferase 1,255aa) |
g.11:63991801T>C,c.521A>G,p.H174R |
TRPT1(NM_001160389,tRNA phosphotransferase 1,255aa) |
g.11:63991581G>A,c.667C>T,p.R223C |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116632155T>C,c.170A>G,p.E57G |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116631783T>C,c.542A>G,p.Q181R |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116616894A>C,c.1302T>G,p.D434E |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116599487C>A,c.2441G>T,p.R814L |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116599443G>C,c.2485C>G,p.P829A |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116599289G>A,c.2639C>T,p.P880L |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116426988T>A,c.3148A>T,p.I1050F |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116426934C>T,c.3202G>A,p.V1068I |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116426741A>C,c.3395T>G,p.L1132R |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116426723G>A,c.3413C>T,p.P1138L |
TRPS1(NM_014112,trichorhinophalangeal syndrome I,1294aa) |
g.8:116426433T>C,c.3703A>G,p.I1235V |
TRPM8(NM_024080,transient receptor potential cation channel, subfamily M, member 8,1104aa) |
g.2:234905097A>T,c.3067A>T,p.M1023L |
TRPM8(NM_024080,transient receptor potential cation channel, subfamily M, member 8,1104aa) |
g.2:234879015C>G,c.2300C>G,p.P767R |
TRPM8(NM_024080,transient receptor potential cation channel, subfamily M, member 8,1104aa) |
g.2:234878910C>T,c.2195C>T,p.T732I |
TRPM8(NM_024080,transient receptor potential cation channel, subfamily M, member 8,1104aa) |
g.2:234875314C>T,c.1940C>T,p.S647F |
TRPM8(NM_024080,transient receptor potential cation channel, subfamily M, member 8,1104aa) |
g.2:234871987A>C,c.1715A>C,p.N572T |
TRPM8(NM_024080,transient receptor potential cation channel, subfamily M, member 8,1104aa) |
g.2:234869681G>A,c.1624G>A,p.G542S |