基因名 |
突变 |
TSPAN11(NM_001080509,tetraspanin 11,253aa) |
g.12:31116933G>A,c.257G>A,p.R86Q |
TSPAN11(NM_001080509,tetraspanin 11,253aa) |
g.12:31116827G>A,c.151G>A,p.V51I |
TSPAN11(NM_001080509,tetraspanin 11,253aa) |
g.12:31106941A>C,c.16A>C,p.T6P |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79615225G>T,c.969G>T,p.R323S |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79615163C>G,c.907C>G,p.L303V |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79615022G>C,c.766G>C,p.D256H |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79614951C>T,c.695C>T,p.P232L |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79614939A>C,c.683A>C,p.N228T |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79614938A>G,c.682A>G,p.N228D |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79614934_79614937del,c.681del,p.227fs |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79614933_79614936del,c.681-2del,p.227Acceptordel |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79612633T>C,c.652T>C,p.Y218H |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79612621G>A,c.640G>A,p.G214R |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79612606G>A,c.625G>A,p.G209R |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79612580G>A,c.599G>A,p.R200H |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79612541G>A,c.560G>A,p.R187H |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79612414G>A,c.433G>A,p.E145K |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79612397A>G,c.416A>G,p.Y139C |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79612382T>C,c.401T>C,p.V134A |
TSPAN10(NM_031945,tetraspanin 10,355aa) |
g.17:79612333G>A,c.352G>A,p.A118T |
TSN(NM_004622,translin,228aa) |
g.2:122522918C>T,c.662C>T,p.T221M |
TSNAX(NM_005999,translin-associated factor X,290aa) |
g.1:231665034A>G,c.50A>G,p.N17S |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67861882G>A,c.1963G>A,p.E655K |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67861862G>A,c.1943G>A,p.R648H |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67861861C>T,c.1942C>T,p.R648C |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67861837C>T,c.1918C>T,p.R640W |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67860637C>T,c.1282C>T,p.R428C |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67860371G>A,c.1145G>A,p.R382Q |