| 基因名 | 突变 |
|---|---|
| SYCP1(NM_003176,synaptonemal complex protein 1,976aa) | g.1:115454199G>A,c.1525G>A,p.E509K |
| SYCP1(NM_003176,synaptonemal complex protein 1,976aa) | g.1:115453062G>T,c.1365G>T,p.K455N |
| SYCP1(NM_003176,synaptonemal complex protein 1,976aa) | g.1:115428895C>G,c.1155C>G,p.C385W |
| SYCP1(NM_003176,synaptonemal complex protein 1,976aa) | g.1:115428783C>T,c.1043C>T,p.A348V |
| SYCP1(NM_003176,synaptonemal complex protein 1,976aa) | g.1:115417175A>G,c.647A>G,p.N216S |
| SYCP1(NM_003176,synaptonemal complex protein 1,976aa) | g.1:115403368C>T,c.536C>T,p.T179I |
| SYCP1(NM_003176,synaptonemal complex protein 1,976aa) | g.1:115400087A>G,c.260A>G,p.Y87C |
| SYCN(NM_001080468,syncollin,134aa) | g.19:39694627C>T,c.268G>A,p.V90M |
| SYCE3(NM_001123225,synaptonemal complex central element protein 3,88aa) | g.22:50989747G>C,c.194C>G,p.A65G |
| SYCE3(NM_001123225,synaptonemal complex central element protein 3,88aa) | g.22:50989742C>T,c.199G>A,p.V67I |
| SYCE3(NM_001123225,synaptonemal complex central element protein 3,88aa) | g.22:50989678A>G,c.263T>C,p.L88P |
| SYCE2(NM_001105578,synaptonemal complex central element protein 2,218aa) | g.19:13015347G>A,c.265C>T,p.H89Y |
| SYCE2(NM_001105578,synaptonemal complex central element protein 2,218aa) | g.19:13010934G>C,c.496C>G,p.Q166E |
| SYCE2(NM_001105578,synaptonemal complex central element protein 2,218aa) | g.19:13010891T>G,c.539A>C,p.K180T |
| SYCE2(NM_001105578,synaptonemal complex central element protein 2,218aa) | g.19:13010874C>T,c.556G>A,p.G186S |
| SYCE1(NM_001143763,synaptonemal complex central element protein 1,318aa) | g.10:135372404G>A,c.248C>T,p.A83V |
| SYCE1(NM_001143763,synaptonemal complex central element protein 1,318aa) | g.10:135372380C>T,c.271+1G>A,p.91Donor |
| SYCE1(NM_001143763,synaptonemal complex central element protein 1,318aa) | g.10:135371369T>C,c.373A>G,p.R125G |
| SYCE1(NM_001143763,synaptonemal complex central element protein 1,318aa) | g.10:135370639C>A,c.396G>T,p.E132D |
| SYCE1(NM_001143763,synaptonemal complex central element protein 1,318aa) | g.10:135369532T>C,c.548A>G,p.K183R |
| SYCE1(NM_001143763,synaptonemal complex central element protein 1,318aa) | g.10:135369153G>A,c.778C>T,p.R260C |
| SYCE1L(NM_001129979,synaptonemal complex central element protein 1-like,242aa) | g.16:77246517C>A,c.628C>A,p.P210T |
| SYCE1L(NM_001129979,synaptonemal complex central element protein 1-like,242aa) | g.16:77246218G>A,c.533G>A,p.R178Q |
| SYCE1L(NM_001129979,synaptonemal complex central element protein 1-like,242aa) | g.16:77245174G>A,c.423+1G>A,p.141Donor |
| SYCE1L(NM_001129979,synaptonemal complex central element protein 1-like,242aa) | g.16:77245139T>C,c.389T>C,p.L130P |
| SYCE1L(NM_001129979,synaptonemal complex central element protein 1-like,242aa) | g.16:77243358G>A,c.349G>A,p.E117K |
| SYCE1L(NM_001129979,synaptonemal complex central element protein 1-like,242aa) | g.16:77242145C>T,c.160C>T,p.R54W |
| SYCE1L(NM_001129979,synaptonemal complex central element protein 1-like,242aa) | g.16:77233394A>G,c.46A>G,p.T16A |