基因名 |
突变 |
SYDE1(NM_033025,synapse defective 1, Rho GTPase, homolog 1 (C. elegans),735aa) |
g.19:15220100G>A,c.322G>A,p.G108S |
SYDE1(NM_033025,synapse defective 1, Rho GTPase, homolog 1 (C. elegans),735aa) |
g.19:15220020G>A,c.242G>A,p.R81H |
SYDE1(NM_033025,synapse defective 1, Rho GTPase, homolog 1 (C. elegans),735aa) |
g.19:15219984G>A,c.206G>A,p.R69Q |
SYCP3(NM_001177949,synaptonemal complex protein 3,236aa) |
g.12:102131655T>C,c.59A>G,p.Q20R |
SYCP3(NM_001177949,synaptonemal complex protein 3,236aa) |
g.12:102125434C>T,c.464G>A,p.R155Q |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58496438A>G,c.95T>C,p.I32T |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58494646C>G,c.304G>C,p.A102P |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58494645G>A,c.305C>T,p.A102V |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58476841G>T,c.1058C>A,p.T353K |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58476811C>T,c.1088G>A,p.S363N |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58470607G>A,c.1550C>T,p.T517M |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58467404T>G,c.2005A>C,p.K669Q |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58467328T>C,c.2081A>G,p.N694S |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58467157G>A,c.2252C>T,p.T751I |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58467105T>G,c.2304A>C,p.R768S |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58467101C>T,c.2308G>A,p.A770T |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58467098C>T,c.2311G>A,p.E771K |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58467097T>G,c.2312A>C,p.E771A |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58467061G>A,c.2348C>T,p.S783L |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58461802T>C,c.2452A>G,p.I818V |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58457150A>G,c.2600T>C,p.V867A |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58455447A>G,c.2852T>C,p.I951T |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58455402T>C,c.2897A>G,p.Y966C |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58452582A>G,c.3008T>C,p.M1003T |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58452567G>A,c.3023C>T,p.P1008L |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58452543C>T,c.3047G>A,p.R1016Q |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58452528G>T,c.3062C>A,p.T1021K |
SYCP2(NM_014258,synaptonemal complex protein 2,1530aa) |
g.20:58449002A>G,c.3464T>C,p.V1155A |