基因名 |
突变 |
SULF1(NM_001128205,sulfatase 1,871aa) |
g.8:70498639C>G,c.460C>G,p.P154A |
SULF1(NM_001128205,sulfatase 1,871aa) |
g.8:70488403G>A,c.371G>A,p.R124Q |
SULF1(NM_001128205,sulfatase 1,871aa) |
g.8:70488314G>A,c.282G>A,p.M94I |
SUGT1(NM_001130912,SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae),365aa) |
g.13:53241032C>T,c.701C>T,p.T234M |
SUGT1(NM_001130912,SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae),365aa) |
g.13:53240958G>T,c.627G>T,p.L209F |
SUGT1(NM_001130912,SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae),365aa) |
g.13:53227190G>C,c.48G>C,p.Q16H |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19136780C>T,c.377G>A,p.R126Q |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19136541C>T,c.616G>A,p.G206S |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19136501A>G,c.656T>C,p.V219A |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19136099G>C,c.1058C>G,p.T353S |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19129981C>T,c.1787G>A,p.R596H |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19121086C>T,c.1916G>A,p.R639Q |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19120943C>G,c.2059G>C,p.G687R |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19120937G>A,c.2065C>T,p.R689W |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19120837T>C,c.2165A>G,p.Q722R |
SUGP2(NM_001017392,SURP and G patch domain containing 2,1082aa) |
g.19:19115094C>T,c.2812G>A,p.A938T |
SUGP1(NM_172231,SURP and G patch domain containing 1,645aa) |
g.19:19416835C>T,c.361G>A,p.A121T |
SUGP1(NM_172231,SURP and G patch domain containing 1,645aa) |
g.19:19414533G>A,c.662C>T,p.A221V |
SUGP1(NM_172231,SURP and G patch domain containing 1,645aa) |
g.19:19414177G>A,c.743C>T,p.S248L |
SUGP1(NM_172231,SURP and G patch domain containing 1,645aa) |
g.19:19413092C>T,c.869G>A,p.R290H |
SUFU(NM_016169,suppressor of fused homolog (Drosophila),484aa) |
g.10:104375107G>A,c.1105G>A,p.V369I |
SUFU(NM_016169,suppressor of fused homolog (Drosophila),484aa) |
g.10:104375086C>T,c.1084C>T,p.R362C |
SUFU(NM_016169,suppressor of fused homolog (Drosophila),484aa) |
g.10:104359297G>T,c.1018G>T,p.A340S |
SUCO(NM_014283,SUN domain containing ossification factor,1254aa) |
g.1:172571280G>A,c.3095G>A,p.R1032H |
SUCO(NM_014283,SUN domain containing ossification factor,1254aa) |
g.1:172558622A>G,c.2381A>G,p.Y794C |
SUCO(NM_014283,SUN domain containing ossification factor,1254aa) |
g.1:172558319A>G,c.2078A>G,p.E693G |
SUCO(NM_014283,SUN domain containing ossification factor,1254aa) |
g.1:172558294T>G,c.2053T>G,p.L685V |
SUCO(NM_014283,SUN domain containing ossification factor,1254aa) |
g.1:172558213T>A,c.1972T>A,p.Y658N |