| 基因名 | 突变 |
|---|---|
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712967G>A,c.2201G>A,p.R734Q |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712852A>C,c.2086A>C,p.T696P |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712784C>G,c.2018C>G,p.T673S |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712766G>A,c.2000G>A,p.R667H |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712757C>T,c.1991C>T,p.A664V |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712681G>A,c.1915G>A,p.V639I |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712156T>G,c.1390T>G,p.S464A |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712123A>G,c.1357A>G,p.K453E |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712060G>C,c.1294G>C,p.E432Q |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:712040_712041insAGCTGT,c.1274_1275insAGCTGT,p.425ins2aa |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711982G>A,c.1216G>A,p.E406K |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711962G>A,c.1196G>A,p.R399Q |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711755C>G,c.989C>G,p.S330C |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711623T>A,c.857T>A,p.V286E |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711556C>T,c.790C>T,p.R264C |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711484C>T,c.718C>T,p.R240C |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711396C>G,c.630C>G,p.H210Q |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711359C>T,c.593C>T,p.S198F |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711331G>A,c.565G>A,p.G189S |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:711112A>G,c.346A>G,p.T116A |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:710966G>A,c.200G>A,p.R67Q |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:710915A>T,c.149A>T,p.D50V |
| KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) | g.9:710818A>G,c.52A>G,p.I18V |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124438307A>G,c.8951A>G,p.Q2984R |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124438274A>G,c.8918A>G,p.N2973S |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124418847G>A,c.7963G>A,p.E2655K |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124416460C>T,c.7720C>T,p.R2574C |
| KALRN(NM_001024660,kalirin, RhoGEF kinase,2986aa) | g.3:124397114G>A,c.7271G>A,p.G2424E |