基因名 |
突变 |
SUOX(NM_000456,sulfite oxidase,545aa) |
g.12:56397864C>T,c.691C>T,p.R231C |
SUOX(NM_000456,sulfite oxidase,545aa) |
g.12:56397802C>T,c.629C>T,p.P210L |
SUOX(NM_000456,sulfite oxidase,545aa) |
g.12:56396497G>A,c.221G>A,p.R74Q |
SUOX(NM_000456,sulfite oxidase,545aa) |
g.12:56396395G>A,c.119G>A,p.R40H |
SUN5(NM_080675,Sad1 and UNC84 domain containing 5,379aa) |
g.20:31592101C>T,c.46G>A,p.E16K |
SUN5(NM_080675,Sad1 and UNC84 domain containing 5,379aa) |
g.20:31590686C>A,c.117G>T,p.E39D |
SUN5(NM_080675,Sad1 and UNC84 domain containing 5,379aa) |
g.20:31589084G>C,c.212C>G,p.S71C |
SUN5(NM_080675,Sad1 and UNC84 domain containing 5,379aa) |
g.20:31583483C>T,c.476G>A,p.R159Q |
SUN5(NM_080675,Sad1 and UNC84 domain containing 5,379aa) |
g.20:31583439C>T,c.520G>A,p.A174T |
SUN5(NM_080675,Sad1 and UNC84 domain containing 5,379aa) |
g.20:31573666C>T,c.773G>A,p.R258H |
SUN5(NM_080675,Sad1 and UNC84 domain containing 5,379aa) |
g.20:31571665C>G,c.1075G>C,p.V359L |
SUN3(NM_001030019,Sad1 and UNC84 domain containing 3,357aa) |
g.7:48068426G>C,c.110C>G,p.P37R |
SUN3(NM_001030019,Sad1 and UNC84 domain containing 3,357aa) |
g.7:48065498G>A,c.160C>T,p.L54F |
SUN3(NM_001030019,Sad1 and UNC84 domain containing 3,357aa) |
g.7:48046775G>A,c.479C>T,p.P160L |
SUN3(NM_001030019,Sad1 and UNC84 domain containing 3,357aa) |
g.7:48045605C>T,c.538G>A,p.D180N |
SUN3(NM_001030019,Sad1 and UNC84 domain containing 3,357aa) |
g.7:48033944T>G,c.829A>C,p.I277L |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39148608G>A,c.26C>T,p.T9M |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39148606G>A,c.28C>T,p.R10C |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39148537T>C,c.97A>G,p.T33A |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39147335C>G,c.166G>C,p.A56P |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39147235A>C,c.266T>G,p.L89R |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39146319G>A,c.494C>T,p.S165L |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39144768G>A,c.698C>T,p.T233M |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39141766C>T,c.799G>A,p.V267I |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39141729T>C,c.836A>G,p.D279G |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39138538C>T,c.899G>A,p.R300Q |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39138332G>A,c.1105C>T,p.R369C |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39137513C>T,c.1195G>A,p.V399I |