基因名 |
突变 |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39137510G>A,c.1198C>T,p.R400W |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39136423G>A,c.1268C>T,p.S423F |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39136283C>T,c.1408G>A,p.V470M |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39136274C>T,c.1417G>A,p.D473N |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39135797G>A,c.1571C>T,p.S524L |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39135783C>T,c.1585G>A,p.A529T |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39134699G>T,c.1903C>A,p.R635S |
SUN2(NM_001199579,Sad1 and UNC84 domain containing 2,738aa) |
g.22:39134207C>T,c.2074G>A,p.G692S |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:912954G>A,c.2344G>A,p.E782K |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:912156C>T,c.2198C>T,p.T733M |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:909148G>A,c.2143G>A,p.V715I |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:905627G>A,c.1903G>A,p.E635K |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:899831G>A,c.1591G>A,p.E531K |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:899820G>T,c.1580G>T,p.G527V |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:897496G>A,c.1426G>A,p.E476K |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:893208G>A,c.1216G>A,p.G406R |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:892279G>C,c.885G>C,p.L295F |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:891100G>T,c.738G>T,p.W246C |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:883115G>A,c.616G>A,p.G206R |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:883107C>T,c.608C>T,p.A203V |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:883098C>T,c.599C>T,p.A200V |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:883080G>A,c.581G>A,p.R194H |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:883035C>T,c.536C>T,p.A179V |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:883034G>A,c.535G>A,p.A179T |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:881668C>T,c.352C>T,p.H118Y |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:881635G>A,c.319G>A,p.V107M |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:881597G>A,c.281G>A,p.R94H |
SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) |
g.7:878614G>C,c.257G>C,p.R86P |