| 基因名 | 突变 |
|---|---|
| VIL1(NM_007127,villin 1,827aa) | g.2:219300110C>A,c.1779C>A,p.N593K |
| VIL1(NM_007127,villin 1,827aa) | g.2:219299355G>A,c.1607G>A,p.R536Q |
| VIL1(NM_007127,villin 1,827aa) | g.2:219299328A>C,c.1580A>C,p.N527T |
| VIL1(NM_007127,villin 1,827aa) | g.2:219299262G>A,c.1514G>A,p.R505Q |
| VIL1(NM_007127,villin 1,827aa) | g.2:219296633G>A,c.1156G>A,p.V386M |
| VIL1(NM_007127,villin 1,827aa) | g.2:219294666C>T,c.944C>T,p.A315V |
| VIL1(NM_007127,villin 1,827aa) | g.2:219294321G>C,c.772G>C,p.V258L |
| VIL1(NM_007127,villin 1,827aa) | g.2:219294201A>G,c.761A>G,p.K254R |
| VIL1(NM_007127,villin 1,827aa) | g.2:219294189A>C,c.749A>C,p.K250T |
| VIL1(NM_007127,villin 1,827aa) | g.2:219294143G>A,c.703G>A,p.E235K |
| VIL1(NM_007127,villin 1,827aa) | g.2:219294124C>A,c.684C>A,p.H228Q |
| VIL1(NM_007127,villin 1,827aa) | g.2:219292692C>T,c.352C>T,p.R118W |
| VIL1(NM_007127,villin 1,827aa) | g.2:219290461C>T,c.274C>T,p.R92W |
| VHL(NM_000551,von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase,213aa) | g.3:10191605C>T,c.598C>T,p.R200W |
| VHL(NM_000551,von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase,213aa) | g.3:10183650C>T,c.119C>T,p.P40L |
| VHL(NM_000551,von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase,213aa) | g.3:10183605C>T,c.74C>T,p.P25L |
| VHLL(NM_001004319,von Hippel-Lindau tumor suppressor-like,139aa) | g.1:156268937G>A,c.44C>T,p.A15V |
| VHLL(NM_001004319,von Hippel-Lindau tumor suppressor-like,139aa) | g.1:156268884C>T,c.97G>A,p.E33K |
| VHLL(NM_001004319,von Hippel-Lindau tumor suppressor-like,139aa) | g.1:156268827C>T,c.154G>A,p.E52K |
| VGLL4(NM_001128219,vestigial like 4 (Drosophila),296aa) | g.3:11643465T>C,c.114A>G,p.I38M |
| VGLL4(NM_001128219,vestigial like 4 (Drosophila),296aa) | g.3:11643411_11643412insG,c.167_168insC,p.56fs |
| VGLL4(NM_001128219,vestigial like 4 (Drosophila),296aa) | g.3:11600860C>T,c.565G>A,p.A189T |
| VGLL4(NM_001128219,vestigial like 4 (Drosophila),296aa) | g.3:11600101G>T,c.820C>A,p.R274S |
| VGLL3(NM_016206,vestigial like 3 (Drosophila),326aa) | g.3:87039785G>T,c.109C>A,p.P37T |
| VGLL3(NM_016206,vestigial like 3 (Drosophila),326aa) | g.3:87018099T>A,c.578A>T,p.H193L |
| VGLL3(NM_016206,vestigial like 3 (Drosophila),326aa) | g.3:87017998T>G,c.679A>C,p.M227L |
| VGLL3(NM_016206,vestigial like 3 (Drosophila),326aa) | g.3:87017755C>T,c.922G>A,p.V308M |
| VGLL3(NM_016206,vestigial like 3 (Drosophila),326aa) | g.3:87017746C>T,c.931G>A,p.D311N |