| 基因名 | 突变 |
|---|---|
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124393413C>T,c.7145C>T,p.A2382V |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124393380C>T,c.7112C>T,p.A2371V |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124390734G>A,c.6928G>A,p.E2310K |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124390722G>A,c.6916G>A,p.G2306R |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124390692G>T,c.6886G>T,p.G2296C |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124390569C>A,c.6763C>A,p.P2255T |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124390534G>A,c.6728G>A,p.R2243Q |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124385471G>C,c.6518G>C,p.R2173T |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124385342A>G,c.6389A>G,p.Y2130C |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124377338G>A,c.6094G>A,p.V2032I |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124377326T>G,c.6082T>G,p.S2028A |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124377323C>T,c.6079C>T,p.R2027C |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124369671C>T,c.5678C>T,p.S1893L |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124356082G>A,c.5593G>A,p.A1865T |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124281844C>A,c.5084C>A,p.P1695Q |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124281793G>A,c.5033G>A,p.R1678Q |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124281690C>T,c.4930C>T,p.L1644F |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124201668G>A,c.4199G>A,p.R1400Q |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124117557T>A,c.2179T>A,p.S727T |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124048784T>A,c.1355T>A,p.L452Q |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124045010G>T,c.1270G>T,p.A424S |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:123988085G>C,c.946G>C,p.E316Q |
| KAL1(NM_000216,Kallmann syndrome 1 sequence,680aa) | g.X:8565162C>T,c.454G>A,p.E152K |
| KAL1(NM_000216,Kallmann syndrome 1 sequence,680aa) | g.X:8565153T>C,c.463A>G,p.N155D |
| KAL1(NM_000216,Kallmann syndrome 1 sequence,680aa) | g.X:8565144A>G,c.472T>C,p.S158P |
| KAL1(NM_000216,Kallmann syndrome 1 sequence,680aa) | g.X:8504901G>T,c.1532C>A,p.S511Y |
| KAL1(NM_000216,Kallmann syndrome 1 sequence,680aa) | g.X:8504833C>T,c.1600G>A,p.V534I |
| KAL1(NM_000216,Kallmann syndrome 1 sequence,680aa) | g.X:8504818C>T,c.1615G>A,p.E539K |