基因名 |
突变 |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20073682G>A,c.587C>T,p.A196V |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20073656C>T,c.613G>A,p.G205S |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20073053C>A,c.653G>T,p.G218V |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20072082C>T,c.820G>A,p.G274S |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20067396G>A,c.916C>T,p.R306C |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20067395C>T,c.917G>A,p.R306H |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20066405T>C,c.1091A>G,p.N364S |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20066321T>G,c.1175A>C,p.Q392P |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20063896G>T,c.1233C>A,p.Y411X |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20027271C>T,c.1372G>A,p.G458S |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20020994C>T,c.1433G>A,p.R478H |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20020986C>T,c.1441G>A,p.G481S |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20009837G>C,c.1601C>G,p.A534G |
TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) |
g.1:20009790C>T,c.1648G>A,p.A550T |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114203785G>A,c.1966G>A,p.A656T |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114201633C>T,c.1709C>T,p.T570M |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114188476G>A,c.1460G>A,p.R487Q |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114188464G>A,c.1448G>A,p.G483E |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114175038G>A,c.1333G>A,p.A445T |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114175032G>A,c.1327G>A,p.A443T |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114174993C>G,c.1288C>G,p.L430V |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114152684G>A,c.472G>A,p.A158T |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114150281G>A,c.385G>A,p.V129M |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114150180C>T,c.284C>T,p.T95M |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114150039A>G,c.143A>G,p.Q48R |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114150029C>G,c.133C>G,p.Q45E |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114150012G>A,c.116G>A,p.R39Q |
TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) |
g.13:114149952C>T,c.56C>T,p.A19V |