基因名 |
突变 |
SPOPL(NM_001001664,speckle-type POZ protein-like,392aa) |
g.2:139316900G>A,c.707G>A,p.S236N |
SPOPL(NM_001001664,speckle-type POZ protein-like,392aa) |
g.2:139316631A>G,c.520A>G,p.T174A |
SPOPL(NM_001001664,speckle-type POZ protein-like,392aa) |
g.2:139307829A>G,c.43A>G,p.T15A |
SPOPL(NM_001001664,speckle-type POZ protein-like,392aa) |
g.2:139307824T>C,c.38T>C,p.M13T |
SPON2(NM_001199021,spondin 2, extracellular matrix protein,331aa) |
g.4:1165808G>A,c.52C>T,p.L18F |
SPON2(NM_001199021,spondin 2, extracellular matrix protein,331aa) |
g.4:1165748T>C,c.112A>G,p.R38G |
SPON2(NM_001199021,spondin 2, extracellular matrix protein,331aa) |
g.4:1165741A>G,c.119T>C,p.L40P |
SPON2(NM_001199021,spondin 2, extracellular matrix protein,331aa) |
g.4:1165131C>T,c.364G>A,p.A122T |
SPON2(NM_001199021,spondin 2, extracellular matrix protein,331aa) |
g.4:1165130G>T,c.365C>A,p.A122E |
SPON2(NM_001199021,spondin 2, extracellular matrix protein,331aa) |
g.4:1164786C>G,c.636+1G>C,p.212Donor |
SPON2(NM_001199021,spondin 2, extracellular matrix protein,331aa) |
g.4:1164277C>G,c.724G>C,p.V242L |
SPOCK3(NM_001204352,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3,385aa) |
g.4:167921525T>C,c.181A>G,p.I61V |
SPOCK3(NM_001204352,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3,385aa) |
g.4:167921516G>A,c.190C>T,p.R64W |
SPOCK3(NM_001204352,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3,385aa) |
g.4:167713405T>C,c.481A>G,p.R161G |
SPOCK3(NM_001204352,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3,385aa) |
g.4:167663190G>A,c.808C>T,p.L270F |
SPOCK3(NM_001204352,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3,385aa) |
g.4:167656090G>C,c.1140C>G,p.D380E |
SPOCK2(NM_001244950,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2,424aa) |
g.10:73848038C>T,c.49G>A,p.A17T |
SPOCK2(NM_001244950,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2,424aa) |
g.10:73832011C>T,c.250G>A,p.D84N |
SPOCK2(NM_001244950,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2,424aa) |
g.10:73832007G>A,c.254C>T,p.T85I |
SPOCK2(NM_001244950,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2,424aa) |
g.10:73827383C>T,c.697G>A,p.G233S |
SPOCK2(NM_001244950,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2,424aa) |
g.10:73826840T>C,c.748A>G,p.I250V |
SPOCK2(NM_001244950,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2,424aa) |
g.10:73826785G>A,c.803C>T,p.T268M |
SPOCK2(NM_001244950,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2,424aa) |
g.10:73822881C>T,c.1031G>A,p.R344Q |
SPOCK2(NM_001244950,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2,424aa) |
g.10:73822855C>T,c.1057G>A,p.G353S |
SPOCK2(NM_001244950,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2,424aa) |
g.10:73822535C>T,c.1258G>A,p.G420R |
SPOCK1(NM_004598,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1,439aa) |
g.5:136834138T>C,c.110A>G,p.N37S |
SPOCK1(NM_004598,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1,439aa) |
g.5:136476288G>T,c.328C>A,p.R110S |
SPOCK1(NM_004598,sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1,439aa) |
g.5:136476273G>C,c.343C>G,p.P115A |