| 基因名 | 突变 |
|---|---|
| SKA1(NM_001039535,spindle and kinetochore associated complex subunit 1,255aa) | g.18:47908556G>A,c.271G>A,p.V91I |
| SIX6(NM_007374,SIX homeobox 6,246aa) | g.14:60977866C>T,c.637C>T,p.P213S |
| SIX6(NM_007374,SIX homeobox 6,246aa) | g.14:60977843T>G,c.614T>G,p.L205R |
| SIX6(NM_007374,SIX homeobox 6,246aa) | g.14:60976537C>A,c.421C>A,p.H141N |
| SIX6(NM_007374,SIX homeobox 6,246aa) | g.14:60976501G>A,c.385G>A,p.E129K |
| SIX6(NM_007374,SIX homeobox 6,246aa) | g.14:60976133T>C,c.17T>C,p.I6T |
| SIX5(NM_175875,SIX homeobox 5,739aa) | g.19:46271397T>C,c.706A>G,p.T236A |
| SIX5(NM_175875,SIX homeobox 5,739aa) | g.19:46269313G>C,c.1666C>G,p.L556V |
| SIX5(NM_175875,SIX homeobox 5,739aa) | g.19:46269196C>T,c.1783G>A,p.V595M |
| SIX5(NM_175875,SIX homeobox 5,739aa) | g.19:46269076G>A,c.1903C>T,p.P635S |
| SIX5(NM_175875,SIX homeobox 5,739aa) | g.19:46269000G>A,c.1979C>T,p.A660V |
| SIX5(NM_175875,SIX homeobox 5,739aa) | g.19:46268902C>T,c.2077G>A,p.V693M |
| SIX4(NM_017420,SIX homeobox 4,781aa) | g.14:61186964C>G,c.1063G>C,p.V355L |
| SIX4(NM_017420,SIX homeobox 4,781aa) | g.14:61186733T>C,c.1294A>G,p.T432A |
| SIX4(NM_017420,SIX homeobox 4,781aa) | g.14:61186559C>T,c.1468G>A,p.G490R |
| SIX4(NM_017420,SIX homeobox 4,781aa) | g.14:61180693T>A,c.1778A>T,p.N593I |
| SIX4(NM_017420,SIX homeobox 4,781aa) | g.14:61180673A>C,c.1798T>G,p.S600A |
| SIX4(NM_017420,SIX homeobox 4,781aa) | g.14:61180657T>G,c.1814A>C,p.H605P |
| SIX4(NM_017420,SIX homeobox 4,781aa) | g.14:61180336C>T,c.2135G>A,p.R712H |
| SIX3(NM_005413,SIX homeobox 3,332aa) | g.2:45171842A>G,c.942A>G,p.A314A |
| SIX3(NM_005413,SIX homeobox 3,332aa) | g.2:45171724T>C,c.824T>C,p.I275T |
| SIX3(NM_005413,SIX homeobox 3,332aa) | g.2:45169819C>T,c.576C>T,p.R192R |
| SIX3(NM_005413,SIX homeobox 3,332aa) | g.2:45169352G>T,c.109G>T,p.G37C |
| SIX3(NM_005413,SIX homeobox 3,332aa) | g.2:45169333G>T,c.90G>T,p.A30A |
| SIX2(NM_016932,SIX homeobox 2,291aa) | g.2:45236124G>C,c.126C>G,p.H42Q |
| SIX2(NM_016932,SIX homeobox 2,291aa) | g.2:45233481G>A,c.704C>T,p.P235L |
| SIX2(NM_016932,SIX homeobox 2,291aa) | g.2:45233463G>A,c.722C>T,p.P241L |
| SIX2(NM_016932,SIX homeobox 2,291aa) | g.2:45233412G>A,c.773C>T,p.P258L |