| 基因名 | 突变 |
|---|---|
| VASH2(NM_024749,vasohibin 2,311aa) | g.1:213147400G>A,c.851G>A,p.R284Q |
| VASH2(NM_024749,vasohibin 2,311aa) | g.1:213146235G>A,c.679G>A,p.V227I |
| VASH1(NM_014909,vasohibin 1,365aa) | g.14:77244390G>A,c.1001G>A,p.R334H |
| VASH1(NM_014909,vasohibin 1,365aa) | g.14:77244315C>T,c.926C>T,p.T309M |
| VASH1(NM_014909,vasohibin 1,365aa) | g.14:77242563C>A,c.859C>A,p.R287S |
| VASH1(NM_014909,vasohibin 1,365aa) | g.14:77236376G>A,c.380G>A,p.R127H |
| VASH1(NM_014909,vasohibin 1,365aa) | g.14:77236375C>T,c.379C>T,p.R127C |
| VASH1(NM_014909,vasohibin 1,365aa) | g.14:77236357C>T,c.361C>T,p.R121C |
| VASH1(NM_014909,vasohibin 1,365aa) | g.14:77236328C>T,c.332C>T,p.T111M |
| VASH1(NM_014909,vasohibin 1,365aa) | g.14:77229235C>A,c.71C>A,p.A24D |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31762928G>A,c.67C>T,p.R23C |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31762844G>T,c.151C>A,p.P51T |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31762843G>C,c.152C>G,p.P51R |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31762843_31762844GG>CT,c.151_152CC>AG,p.P51S |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31762624G>A,c.371C>T,p.S124L |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31760654G>A,c.541C>T,p.R181C |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31760630G>A,c.565C>T,p.R189C |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31759739C>G,c.881G>C,p.G294A |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31759728C>G,c.892G>C,p.D298H |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31750542T>C,c.1843A>G,p.M615V |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31750517T>C,c.1868A>G,p.N623S |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31750509G>A,c.1876C>T,p.P626S |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31747833G>A,c.3023C>T,p.P1008L |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31747555C>T,c.3118G>A,p.V1040M |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31747510C>T,c.3163G>A,p.V1055I |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31746821G>A,c.3649C>T,p.R1217C |
| VARS(NM_006295,valyl-tRNA synthetase,1264aa) | g.6:31746806G>A,c.3664C>T,p.R1222C |
| VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) | g.6:30893941G>A,c.3236G>A,p.R1079Q |