| 基因名 | 突变 |
|---|---|
| ESPN(NM_031475,espin,854aa) | g.1:6488329G>A,c.338G>A,p.R113H |
| ESPN(NM_031475,espin,854aa) | g.1:6488328C>T,c.337C>T,p.R113C |
| ESPN(NM_031475,espin,854aa) | g.1:6485305T>A,c.290T>A,p.V97E |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239040254C>T,c.2899C>T,p.R967W |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239040233G>A,c.2878G>A,p.G960S |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239040218G>A,c.2863G>A,p.A955T |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239040113G>A,c.2758G>A,p.E920K |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239040107G>A,c.2752G>A,p.G918S |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239040104G>A,c.2749G>A,p.D917N |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239040093G>A,c.2738G>A,p.R913Q |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239040089C>T,c.2734C>T,p.R912C |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239040065G>A,c.2710G>A,p.V904M |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039981A>G,c.2626A>G,p.K876E |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039970C>T,c.2615C>T,p.A872V |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039864G>A,c.2509G>A,p.E837K |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039841A>G,c.2486A>G,p.Q829R |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039637T>C,c.2282T>C,p.V761A |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039312C>T,c.1957C>T,p.R653W |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039298G>T,c.1943G>T,p.W648L |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039283G>A,c.1928G>A,p.R643H |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039183G>A,c.1828G>A,p.V610M |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039075G>T,c.1720G>T,p.A574S |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039057A>G,c.1702A>G,p.I568V |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239039033G>A,c.1678G>A,p.G560R |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239038917G>A,c.1562G>A,p.R521H |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239038877G>C,c.1522G>C,p.V508L |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239038829C>G,c.1474C>G,p.Q492E |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239037394C>T,c.1262C>T,p.A421V |